| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121605213T>A | CA6329731 | SORL1 | c.4752T>A (p.Ala1584=) c.1584T>A (p.Ala528=) c.597T>A (p.Ala199=) c.1290T>A (p.Ala430=) c.1482T>A (p.Ala494=) c.4638T>A (p.Ala1546=) c.3213T>A (p.Ala1071=) c.2112T>A (p.Ala704=) c.4440T>A (p.Ala1480=) c.4227T>A (p.Ala1409=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121605213T>C | CA477221762 | SORL1 | c.4752T>C (p.Ala1584=) c.1584T>C (p.Ala528=) c.597T>C (p.Ala199=) c.1290T>C (p.Ala430=) c.1482T>C (p.Ala494=) c.4638T>C (p.Ala1546=) c.3213T>C (p.Ala1071=) c.2112T>C (p.Ala704=) c.4440T>C (p.Ala1480=) c.4227T>C (p.Ala1409=) | |
| 11 | g.121605213T>G | CA477221761 | SORL1 | c.4752T>G (p.Ala1584=) c.1584T>G (p.Ala528=) c.597T>G (p.Ala199=) c.1290T>G (p.Ala430=) c.1482T>G (p.Ala494=) c.4638T>G (p.Ala1546=) c.3213T>G (p.Ala1071=) c.2112T>G (p.Ala704=) c.4440T>G (p.Ala1480=) c.4227T>G (p.Ala1409=) | |
| 11 | g.121605213T= | CA2004922194 | SORL1 | c.4752T= (p.Ala1584=) c.1584T= (p.Ala528=) c.597T= (p.Ala199=) c.1290T= (p.Ala430=) c.1482T= (p.Ala494=) c.4638T= (p.Ala1546=) c.3213T= (p.Ala1071=) c.2112T= (p.Ala704=) c.4440T= (p.Ala1480=) c.4227T= (p.Ala1409=) | |
| 11 | g.121605214T>A | CA383038844 | SORL1 | c.4753T>A (p.Ser1585Thr) c.1585T>A (p.Ser529Thr) c.598T>A (p.Ser200Thr) c.1291T>A (p.Ser431Thr) c.1483T>A (p.Ser495Thr) c.4639T>A (p.Ser1547Thr) c.3214T>A (p.Ser1072Thr) c.2113T>A (p.Ser705Thr) c.4441T>A (p.Ser1481Thr) c.4228T>A (p.Ser1410Thr) | |
| 11 | g.121605214T>C | CA383038847 | SORL1 | c.4753T>C (p.Ser1585Pro) c.1585T>C (p.Ser529Pro) c.598T>C (p.Ser200Pro) c.1291T>C (p.Ser431Pro) c.1483T>C (p.Ser495Pro) c.4639T>C (p.Ser1547Pro) c.3214T>C (p.Ser1072Pro) c.2113T>C (p.Ser705Pro) c.4441T>C (p.Ser1481Pro) c.4228T>C (p.Ser1410Pro) | gnomAD v4 |
| 11 | g.121605214T>G | CA229873646 | SORL1 | c.4753T>G (p.Ser1585Ala) c.1585T>G (p.Ser529Ala) c.598T>G (p.Ser200Ala) c.1291T>G (p.Ser431Ala) c.1483T>G (p.Ser495Ala) c.4639T>G (p.Ser1547Ala) c.3214T>G (p.Ser1072Ala) c.2113T>G (p.Ser705Ala) c.4441T>G (p.Ser1481Ala) c.4228T>G (p.Ser1410Ala) | dbSNP gnomAD v4 |
| 11 | g.121605214T= | CA2004922200 | SORL1 | c.4753T= (p.Ser1585=) c.1585T= (p.Ser529=) c.598T= (p.Ser200=) c.1291T= (p.Ser431=) c.1483T= (p.Ser495=) c.4639T= (p.Ser1547=) c.3214T= (p.Ser1072=) c.2113T= (p.Ser705=) c.4441T= (p.Ser1481=) c.4228T= (p.Ser1410=) | |
| 11 | g.121605215C>A | CA383038850 | SORL1 | c.4754C>A (p.Ser1585Tyr) c.1586C>A (p.Ser529Tyr) c.599C>A (p.Ser200Tyr) c.1292C>A (p.Ser431Tyr) c.1484C>A (p.Ser495Tyr) c.4640C>A (p.Ser1547Tyr) c.3215C>A (p.Ser1072Tyr) c.2114C>A (p.Ser705Tyr) c.4442C>A (p.Ser1481Tyr) c.4229C>A (p.Ser1410Tyr) | |
| 11 | g.121605215C>G | CA383038852 | SORL1 | c.4754C>G (p.Ser1585Cys) c.1586C>G (p.Ser529Cys) c.599C>G (p.Ser200Cys) c.1292C>G (p.Ser431Cys) c.1484C>G (p.Ser495Cys) c.4640C>G (p.Ser1547Cys) c.3215C>G (p.Ser1072Cys) c.2114C>G (p.Ser705Cys) c.4442C>G (p.Ser1481Cys) c.4229C>G (p.Ser1410Cys) | |
| 11 | g.121605215C>T | CA383038854 | SORL1 | c.4754C>T (p.Ser1585Phe) c.1586C>T (p.Ser529Phe) c.599C>T (p.Ser200Phe) c.1292C>T (p.Ser431Phe) c.1484C>T (p.Ser495Phe) c.4640C>T (p.Ser1547Phe) c.3215C>T (p.Ser1072Phe) c.2114C>T (p.Ser705Phe) c.4442C>T (p.Ser1481Phe) c.4229C>T (p.Ser1410Phe) | COSMIC |
| 11 | g.121605216T>A | CA477221763 | SORL1 | c.4755T>A (p.Ser1585=) c.1587T>A (p.Ser529=) c.600T>A (p.Ser200=) c.1293T>A (p.Ser431=) c.1485T>A (p.Ser495=) c.4641T>A (p.Ser1547=) c.3216T>A (p.Ser1072=) c.2115T>A (p.Ser705=) c.4443T>A (p.Ser1481=) c.4230T>A (p.Ser1410=) | |
| 11 | g.121605216T>C | CA477221765 | SORL1 | c.4755T>C (p.Ser1585=) c.1587T>C (p.Ser529=) c.600T>C (p.Ser200=) c.1293T>C (p.Ser431=) c.1485T>C (p.Ser495=) c.4641T>C (p.Ser1547=) c.3216T>C (p.Ser1072=) c.2115T>C (p.Ser705=) c.4443T>C (p.Ser1481=) c.4230T>C (p.Ser1410=) | gnomAD v4 |
| 11 | g.121605216T>G | CA477221764 | SORL1 | c.4755T>G (p.Ser1585=) c.1587T>G (p.Ser529=) c.600T>G (p.Ser200=) c.1293T>G (p.Ser431=) c.1485T>G (p.Ser495=) c.4641T>G (p.Ser1547=) c.3216T>G (p.Ser1072=) c.2115T>G (p.Ser705=) c.4443T>G (p.Ser1481=) c.4230T>G (p.Ser1410=) | |
| 11 | g.121605217T>A | CA383038857 | SORL1 | c.4756T>A (p.Cys1586Ser) c.1588T>A (p.Cys530Ser) c.601T>A (p.Cys201Ser) c.1294T>A (p.Cys432Ser) c.1486T>A (p.Cys496Ser) c.4642T>A (p.Cys1548Ser) c.3217T>A (p.Cys1073Ser) c.2116T>A (p.Cys706Ser) c.4444T>A (p.Cys1482Ser) c.4231T>A (p.Cys1411Ser) | |
| 11 | g.121605217T>C | CA383038860 | SORL1 | c.4756T>C (p.Cys1586Arg) c.1588T>C (p.Cys530Arg) c.601T>C (p.Cys201Arg) c.1294T>C (p.Cys432Arg) c.1486T>C (p.Cys496Arg) c.4642T>C (p.Cys1548Arg) c.3217T>C (p.Cys1073Arg) c.2116T>C (p.Cys706Arg) c.4444T>C (p.Cys1482Arg) c.4231T>C (p.Cys1411Arg) | |
| 11 | g.121605217T>G | CA383038862 | SORL1 | c.4756T>G (p.Cys1586Gly) c.1588T>G (p.Cys530Gly) c.601T>G (p.Cys201Gly) c.1294T>G (p.Cys432Gly) c.1486T>G (p.Cys496Gly) c.4642T>G (p.Cys1548Gly) c.3217T>G (p.Cys1073Gly) c.2116T>G (p.Cys706Gly) c.4444T>G (p.Cys1482Gly) c.4231T>G (p.Cys1411Gly) | |
| 11 | g.121605218G>A | CA383038868 | SORL1 | c.4757G>A (p.Cys1586Tyr) c.1589G>A (p.Cys530Tyr) c.602G>A (p.Cys201Tyr) c.1295G>A (p.Cys432Tyr) c.1487G>A (p.Cys496Tyr) c.4643G>A (p.Cys1548Tyr) c.3218G>A (p.Cys1073Tyr) c.2117G>A (p.Cys706Tyr) c.4445G>A (p.Cys1482Tyr) c.4232G>A (p.Cys1411Tyr) | gnomAD v4 |
| 11 | g.121605218G>C | CA383038870 | SORL1 | c.4757G>C (p.Cys1586Ser) c.1589G>C (p.Cys530Ser) c.602G>C (p.Cys201Ser) c.1295G>C (p.Cys432Ser) c.1487G>C (p.Cys496Ser) c.4643G>C (p.Cys1548Ser) c.3218G>C (p.Cys1073Ser) c.2117G>C (p.Cys706Ser) c.4445G>C (p.Cys1482Ser) c.4232G>C (p.Cys1411Ser) | |
| 11 | g.121605218G= | CA2004922204 | SORL1 | c.4757G= (p.Cys1586=) c.1589G= (p.Cys530=) c.602G= (p.Cys201=) c.1295G= (p.Cys432=) c.1487G= (p.Cys496=) c.4643G= (p.Cys1548=) c.3218G= (p.Cys1073=) c.2117G= (p.Cys706=) c.4445G= (p.Cys1482=) c.4232G= (p.Cys1411=) | |
| 11 | g.121605218G>T | CA6329732 | SORL1 | c.4757G>T (p.Cys1586Phe) c.1589G>T (p.Cys530Phe) c.602G>T (p.Cys201Phe) c.1295G>T (p.Cys432Phe) c.1487G>T (p.Cys496Phe) c.4643G>T (p.Cys1548Phe) c.3218G>T (p.Cys1073Phe) c.2117G>T (p.Cys706Phe) c.4445G>T (p.Cys1482Phe) c.4232G>T (p.Cys1411Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121605219T>A | CA383038873 | SORL1 | c.4758T>A (p.Cys1586Ter) c.1590T>A (p.Cys530Ter) c.603T>A (p.Cys201Ter) c.1296T>A (p.Cys432Ter) c.1488T>A (p.Cys496Ter) c.4644T>A (p.Cys1548Ter) c.3219T>A (p.Cys1073Ter) c.2118T>A (p.Cys706Ter) c.4446T>A (p.Cys1482Ter) c.4233T>A (p.Cys1411Ter) | |
| 11 | g.121605219T>C | CA477221766 | SORL1 | c.4758T>C (p.Cys1586=) c.1590T>C (p.Cys530=) c.603T>C (p.Cys201=) c.1296T>C (p.Cys432=) c.1488T>C (p.Cys496=) c.4644T>C (p.Cys1548=) c.3219T>C (p.Cys1073=) c.2118T>C (p.Cys706=) c.4446T>C (p.Cys1482=) c.4233T>C (p.Cys1411=) | |
| 11 | g.121605219T>G | CA383038876 | SORL1 | c.4758T>G (p.Cys1586Trp) c.1590T>G (p.Cys530Trp) c.603T>G (p.Cys201Trp) c.1296T>G (p.Cys432Trp) c.1488T>G (p.Cys496Trp) c.4644T>G (p.Cys1548Trp) c.3219T>G (p.Cys1073Trp) c.2118T>G (p.Cys706Trp) c.4446T>G (p.Cys1482Trp) c.4233T>G (p.Cys1411Trp) | |
| 11 | g.121605220G>A | CA383038879 | SORL1 | c.4759G>A (p.Val1587Ile) c.1591G>A (p.Val531Ile) c.604G>A (p.Val202Ile) c.1297G>A (p.Val433Ile) c.1489G>A (p.Val497Ile) c.4645G>A (p.Val1549Ile) c.3220G>A (p.Val1074Ile) c.2119G>A (p.Val707Ile) c.4447G>A (p.Val1483Ile) c.4234G>A (p.Val1412Ile) | |
| 11 | g.121605220G>C | CA383038881 | SORL1 | c.4759G>C (p.Val1587Leu) c.1591G>C (p.Val531Leu) c.604G>C (p.Val202Leu) c.1297G>C (p.Val433Leu) c.1489G>C (p.Val497Leu) c.4645G>C (p.Val1549Leu) c.3220G>C (p.Val1074Leu) c.2119G>C (p.Val707Leu) c.4447G>C (p.Val1483Leu) c.4234G>C (p.Val1412Leu) | |
| 11 | g.121605220G>T | CA383038884 | SORL1 | c.4759G>T (p.Val1587Leu) c.1591G>T (p.Val531Leu) c.604G>T (p.Val202Leu) c.1297G>T (p.Val433Leu) c.1489G>T (p.Val497Leu) c.4645G>T (p.Val1549Leu) c.3220G>T (p.Val1074Leu) c.2119G>T (p.Val707Leu) c.4447G>T (p.Val1483Leu) c.4234G>T (p.Val1412Leu) | gnomAD v4 |
| 11 | g.121605221T>A | CA383038887 | SORL1 | c.4760T>A (p.Val1587Glu) c.1592T>A (p.Val531Glu) c.605T>A (p.Val202Glu) c.1298T>A (p.Val433Glu) c.1490T>A (p.Val497Glu) c.4646T>A (p.Val1549Glu) c.3221T>A (p.Val1074Glu) c.2120T>A (p.Val707Glu) c.4448T>A (p.Val1483Glu) c.4235T>A (p.Val1412Glu) | |
| 11 | g.121605221T>C | CA383038889 | SORL1 | c.4760T>C (p.Val1587Ala) c.1592T>C (p.Val531Ala) c.605T>C (p.Val202Ala) c.1298T>C (p.Val433Ala) c.1490T>C (p.Val497Ala) c.4646T>C (p.Val1549Ala) c.3221T>C (p.Val1074Ala) c.2120T>C (p.Val707Ala) c.4448T>C (p.Val1483Ala) c.4235T>C (p.Val1412Ala) | |
| 11 | g.121605221T>G | CA383038892 | SORL1 | c.4760T>G (p.Val1587Gly) c.1592T>G (p.Val531Gly) c.605T>G (p.Val202Gly) c.1298T>G (p.Val433Gly) c.1490T>G (p.Val497Gly) c.4646T>G (p.Val1549Gly) c.3221T>G (p.Val1074Gly) c.2120T>G (p.Val707Gly) c.4448T>G (p.Val1483Gly) c.4235T>G (p.Val1412Gly) | |
| 11 | g.121605222A>C | CA477221767 | SORL1 | c.4761A>C (p.Val1587=) c.1593A>C (p.Val531=) c.606A>C (p.Val202=) c.1299A>C (p.Val433=) c.1491A>C (p.Val497=) c.4647A>C (p.Val1549=) c.3222A>C (p.Val1074=) c.2121A>C (p.Val707=) c.4449A>C (p.Val1483=) c.4236A>C (p.Val1412=) | |
| 11 | g.121605222A>G | CA477221768 | SORL1 | c.4761A>G (p.Val1587=) c.1593A>G (p.Val531=) c.606A>G (p.Val202=) c.1299A>G (p.Val433=) c.1491A>G (p.Val497=) c.4647A>G (p.Val1549=) c.3222A>G (p.Val1074=) c.2121A>G (p.Val707=) c.4449A>G (p.Val1483=) c.4236A>G (p.Val1412=) | gnomAD v4 |
| 11 | g.121605222A>T | CA477221769 | SORL1 | c.4761A>T (p.Val1587=) c.1593A>T (p.Val531=) c.606A>T (p.Val202=) c.1299A>T (p.Val433=) c.1491A>T (p.Val497=) c.4647A>T (p.Val1549=) c.3222A>T (p.Val1074=) c.2121A>T (p.Val707=) c.4449A>T (p.Val1483=) c.4236A>T (p.Val1412=) | |
| 11 | g.121605223T>A | CA383038894 | SORL1 | c.4762T>A (p.Tyr1588Asn) c.1594T>A (p.Tyr532Asn) c.607T>A (p.Tyr203Asn) c.1300T>A (p.Tyr434Asn) c.1492T>A (p.Tyr498Asn) c.4648T>A (p.Tyr1550Asn) c.3223T>A (p.Tyr1075Asn) c.2122T>A (p.Tyr708Asn) c.4450T>A (p.Tyr1484Asn) c.4237T>A (p.Tyr1413Asn) | |
| 11 | g.121605223T>C | CA383038896 | SORL1 | c.4762T>C (p.Tyr1588His) c.1594T>C (p.Tyr532His) c.607T>C (p.Tyr203His) c.1300T>C (p.Tyr434His) c.1492T>C (p.Tyr498His) c.4648T>C (p.Tyr1550His) c.3223T>C (p.Tyr1075His) c.2122T>C (p.Tyr708His) c.4450T>C (p.Tyr1484His) c.4237T>C (p.Tyr1413His) | |
| 11 | g.121605223T>G | CA383038898 | SORL1 | c.4762T>G (p.Tyr1588Asp) c.1594T>G (p.Tyr532Asp) c.607T>G (p.Tyr203Asp) c.1300T>G (p.Tyr434Asp) c.1492T>G (p.Tyr498Asp) c.4648T>G (p.Tyr1550Asp) c.3223T>G (p.Tyr1075Asp) c.2122T>G (p.Tyr708Asp) c.4450T>G (p.Tyr1484Asp) c.4237T>G (p.Tyr1413Asp) | |
| 11 | g.121605224A= | CA2004922206 | SORL1 | c.4763A= (p.Tyr1588=) c.1595A= (p.Tyr532=) c.608A= (p.Tyr203=) c.1301A= (p.Tyr434=) c.1493A= (p.Tyr498=) c.4649A= (p.Tyr1550=) c.3224A= (p.Tyr1075=) c.2123A= (p.Tyr708=) c.4451A= (p.Tyr1484=) c.4238A= (p.Tyr1413=) | |
| 11 | g.121605224A>C | CA383038902 | SORL1 | c.4763A>C (p.Tyr1588Ser) c.1595A>C (p.Tyr532Ser) c.608A>C (p.Tyr203Ser) c.1301A>C (p.Tyr434Ser) c.1493A>C (p.Tyr498Ser) c.4649A>C (p.Tyr1550Ser) c.3224A>C (p.Tyr1075Ser) c.2123A>C (p.Tyr708Ser) c.4451A>C (p.Tyr1484Ser) c.4238A>C (p.Tyr1413Ser) | |
| 11 | g.121605224A>G | CA6329733 | SORL1 | c.4763A>G (p.Tyr1588Cys) c.1595A>G (p.Tyr532Cys) c.608A>G (p.Tyr203Cys) c.1301A>G (p.Tyr434Cys) c.1493A>G (p.Tyr498Cys) c.4649A>G (p.Tyr1550Cys) c.3224A>G (p.Tyr1075Cys) c.2123A>G (p.Tyr708Cys) c.4451A>G (p.Tyr1484Cys) c.4238A>G (p.Tyr1413Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121605224A>T | CA383038903 | SORL1 | c.4763A>T (p.Tyr1588Phe) c.1595A>T (p.Tyr532Phe) c.608A>T (p.Tyr203Phe) c.1301A>T (p.Tyr434Phe) c.1493A>T (p.Tyr498Phe) c.4649A>T (p.Tyr1550Phe) c.3224A>T (p.Tyr1075Phe) c.2123A>T (p.Tyr708Phe) c.4451A>T (p.Tyr1484Phe) c.4238A>T (p.Tyr1413Phe) | |
| 11 | g.121605225T>A | CA383038904 | SORL1 | c.4764T>A (p.Tyr1588Ter) c.1596T>A (p.Tyr532Ter) c.609T>A (p.Tyr203Ter) c.1302T>A (p.Tyr434Ter) c.1494T>A (p.Tyr498Ter) c.4650T>A (p.Tyr1550Ter) c.3225T>A (p.Tyr1075Ter) c.2124T>A (p.Tyr708Ter) c.4452T>A (p.Tyr1484Ter) c.4239T>A (p.Tyr1413Ter) | |
| 11 | g.121605225T>C | CA477221770 | SORL1 | c.4764T>C (p.Tyr1588=) c.1596T>C (p.Tyr532=) c.609T>C (p.Tyr203=) c.1302T>C (p.Tyr434=) c.1494T>C (p.Tyr498=) c.4650T>C (p.Tyr1550=) c.3225T>C (p.Tyr1075=) c.2124T>C (p.Tyr708=) c.4452T>C (p.Tyr1484=) c.4239T>C (p.Tyr1413=) | |
| 11 | g.121605225T>G | CA383038905 | SORL1 | c.4764T>G (p.Tyr1588Ter) c.1596T>G (p.Tyr532Ter) c.609T>G (p.Tyr203Ter) c.1302T>G (p.Tyr434Ter) c.1494T>G (p.Tyr498Ter) c.4650T>G (p.Tyr1550Ter) c.3225T>G (p.Tyr1075Ter) c.2124T>G (p.Tyr708Ter) c.4452T>G (p.Tyr1484Ter) c.4239T>G (p.Tyr1413Ter) | |
| 11 | g.121605226A= | CA2004922210 | SORL1 | c.4765A= (p.Asn1589=) c.1597A= (p.Asn533=) c.610A= (p.Asn204=) c.1303A= (p.Asn435=) c.1495A= (p.Asn499=) c.4651A= (p.Asn1551=) c.3226A= (p.Asn1076=) c.2125A= (p.Asn709=) c.4453A= (p.Asn1485=) c.4240A= (p.Asn1414=) | |
| 11 | g.121605226A>C | CA383038906 | SORL1 | c.4765A>C (p.Asn1589His) c.1597A>C (p.Asn533His) c.610A>C (p.Asn204His) c.1303A>C (p.Asn435His) c.1495A>C (p.Asn499His) c.4651A>C (p.Asn1551His) c.3226A>C (p.Asn1076His) c.2125A>C (p.Asn709His) c.4453A>C (p.Asn1485His) c.4240A>C (p.Asn1414His) | |
| 11 | g.121605226A>G | CA383038907 | SORL1 | c.4765A>G (p.Asn1589Asp) c.1597A>G (p.Asn533Asp) c.610A>G (p.Asn204Asp) c.1303A>G (p.Asn435Asp) c.1495A>G (p.Asn499Asp) c.4651A>G (p.Asn1551Asp) c.3226A>G (p.Asn1076Asp) c.2125A>G (p.Asn709Asp) c.4453A>G (p.Asn1485Asp) c.4240A>G (p.Asn1414Asp) | dbSNP gnomAD v4 |
| 11 | g.121605226A>T | CA383038908 | SORL1 | c.4765A>T (p.Asn1589Tyr) c.1597A>T (p.Asn533Tyr) c.610A>T (p.Asn204Tyr) c.1303A>T (p.Asn435Tyr) c.1495A>T (p.Asn499Tyr) c.4651A>T (p.Asn1551Tyr) c.3226A>T (p.Asn1076Tyr) c.2125A>T (p.Asn709Tyr) c.4453A>T (p.Asn1485Tyr) c.4240A>T (p.Asn1414Tyr) | |
| 11 | g.121605227A= | CA2004922214 | SORL1 | c.4766A= (p.Asn1589=) c.1598A= (p.Asn533=) c.611A= (p.Asn204=) c.1304A= (p.Asn435=) c.1496A= (p.Asn499=) c.4652A= (p.Asn1551=) c.3227A= (p.Asn1076=) c.2126A= (p.Asn709=) c.4454A= (p.Asn1485=) c.4241A= (p.Asn1414=) | |
| 11 | g.121605227A>C | CA383038909 | SORL1 | c.4766A>C (p.Asn1589Thr) c.1598A>C (p.Asn533Thr) c.611A>C (p.Asn204Thr) c.1304A>C (p.Asn435Thr) c.1496A>C (p.Asn499Thr) c.4652A>C (p.Asn1551Thr) c.3227A>C (p.Asn1076Thr) c.2126A>C (p.Asn709Thr) c.4454A>C (p.Asn1485Thr) c.4241A>C (p.Asn1414Thr) | |
| 11 | g.121605227A>G | CA229873655 | SORL1 | c.4766A>G (p.Asn1589Ser) c.1598A>G (p.Asn533Ser) c.611A>G (p.Asn204Ser) c.1304A>G (p.Asn435Ser) c.1496A>G (p.Asn499Ser) c.4652A>G (p.Asn1551Ser) c.3227A>G (p.Asn1076Ser) c.2126A>G (p.Asn709Ser) c.4454A>G (p.Asn1485Ser) c.4241A>G (p.Asn1414Ser) | dbSNP |