Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
11 | g.121605227A>T | CA383038910 | SORL1 | c.4766A>T (p.Asn1589Ile) c.1598A>T (p.Asn533Ile) c.611A>T (p.Asn204Ile) c.1304A>T (p.Asn435Ile) c.1496A>T (p.Asn499Ile) c.4652A>T (p.Asn1551Ile) c.3227A>T (p.Asn1076Ile) c.2126A>T (p.Asn709Ile) c.4454A>T (p.Asn1485Ile) c.4241A>T (p.Asn1414Ile) | |
11 | g.121605228T>A | CA383038911 | SORL1 | c.4767T>A (p.Asn1589Lys) c.1599T>A (p.Asn533Lys) c.612T>A (p.Asn204Lys) c.1305T>A (p.Asn435Lys) c.1497T>A (p.Asn499Lys) c.4653T>A (p.Asn1551Lys) c.3228T>A (p.Asn1076Lys) c.2127T>A (p.Asn709Lys) c.4455T>A (p.Asn1485Lys) c.4242T>A (p.Asn1414Lys) | |
11 | g.121605228T>C | CA477221771 | SORL1 | c.4767T>C (p.Asn1589=) c.1599T>C (p.Asn533=) c.612T>C (p.Asn204=) c.1305T>C (p.Asn435=) c.1497T>C (p.Asn499=) c.4653T>C (p.Asn1551=) c.3228T>C (p.Asn1076=) c.2127T>C (p.Asn709=) c.4455T>C (p.Asn1485=) c.4242T>C (p.Asn1414=) | |
11 | g.121605228T>G | CA383038912 | SORL1 | c.4767T>G (p.Asn1589Lys) c.1599T>G (p.Asn533Lys) c.612T>G (p.Asn204Lys) c.1305T>G (p.Asn435Lys) c.1497T>G (p.Asn499Lys) c.4653T>G (p.Asn1551Lys) c.3228T>G (p.Asn1076Lys) c.2127T>G (p.Asn709Lys) c.4455T>G (p.Asn1485Lys) c.4242T>G (p.Asn1414Lys) | |
11 | g.121605229G>A | CA383038913 | SORL1 | c.4768G>A (p.Val1590Ile) c.1600G>A (p.Val534Ile) c.613G>A (p.Val205Ile) c.1306G>A (p.Val436Ile) c.1498G>A (p.Val500Ile) c.4654G>A (p.Val1552Ile) c.3229G>A (p.Val1077Ile) c.2128G>A (p.Val710Ile) c.4456G>A (p.Val1486Ile) c.4243G>A (p.Val1415Ile) | gnomAD v4 |
11 | g.121605229G>C | CA383038914 | SORL1 | c.4768G>C (p.Val1590Leu) c.1600G>C (p.Val534Leu) c.613G>C (p.Val205Leu) c.1306G>C (p.Val436Leu) c.1498G>C (p.Val500Leu) c.4654G>C (p.Val1552Leu) c.3229G>C (p.Val1077Leu) c.2128G>C (p.Val710Leu) c.4456G>C (p.Val1486Leu) c.4243G>C (p.Val1415Leu) | |
11 | g.121605229G>T | CA383038915 | SORL1 | c.4768G>T (p.Val1590Phe) c.1600G>T (p.Val534Phe) c.613G>T (p.Val205Phe) c.1306G>T (p.Val436Phe) c.1498G>T (p.Val500Phe) c.4654G>T (p.Val1552Phe) c.3229G>T (p.Val1077Phe) c.2128G>T (p.Val710Phe) c.4456G>T (p.Val1486Phe) c.4243G>T (p.Val1415Phe) | |
11 | g.121605230T>A | CA383038916 | SORL1 | c.4769T>A (p.Val1590Asp) c.1601T>A (p.Val534Asp) c.614T>A (p.Val205Asp) c.1307T>A (p.Val436Asp) c.1499T>A (p.Val500Asp) c.4655T>A (p.Val1552Asp) c.3230T>A (p.Val1077Asp) c.2129T>A (p.Val710Asp) c.4457T>A (p.Val1486Asp) c.4244T>A (p.Val1415Asp) | |
11 | g.121605230T>C | CA383038917 | SORL1 | c.4769T>C (p.Val1590Ala) c.1601T>C (p.Val534Ala) c.614T>C (p.Val205Ala) c.1307T>C (p.Val436Ala) c.1499T>C (p.Val500Ala) c.4655T>C (p.Val1552Ala) c.3230T>C (p.Val1077Ala) c.2129T>C (p.Val710Ala) c.4457T>C (p.Val1486Ala) c.4244T>C (p.Val1415Ala) | |
11 | g.121605230T>G | CA383038918 | SORL1 | c.4769T>G (p.Val1590Gly) c.1601T>G (p.Val534Gly) c.614T>G (p.Val205Gly) c.1307T>G (p.Val436Gly) c.1499T>G (p.Val500Gly) c.4655T>G (p.Val1552Gly) c.3230T>G (p.Val1077Gly) c.2129T>G (p.Val710Gly) c.4457T>G (p.Val1486Gly) c.4244T>G (p.Val1415Gly) | COSMIC |
11 | g.121605231C>A | CA477221773 | SORL1 | c.4770C>A (p.Val1590=) c.1602C>A (p.Val534=) c.615C>A (p.Val205=) c.1308C>A (p.Val436=) c.1500C>A (p.Val500=) c.4656C>A (p.Val1552=) c.3231C>A (p.Val1077=) c.2130C>A (p.Val710=) c.4458C>A (p.Val1486=) c.4245C>A (p.Val1415=) | |
11 | g.121605231C= | CA2004922216 | SORL1 | c.4770C= (p.Val1590=) c.1602C= (p.Val534=) c.615C= (p.Val205=) c.1308C= (p.Val436=) c.1500C= (p.Val500=) c.4656C= (p.Val1552=) c.3231C= (p.Val1077=) c.2130C= (p.Val710=) c.4458C= (p.Val1486=) c.4245C= (p.Val1415=) | |
11 | g.121605231C>G | CA6329734 | SORL1 | c.4770C>G (p.Val1590=) c.1602C>G (p.Val534=) c.615C>G (p.Val205=) c.1308C>G (p.Val436=) c.1500C>G (p.Val500=) c.4656C>G (p.Val1552=) c.3231C>G (p.Val1077=) c.2130C>G (p.Val710=) c.4458C>G (p.Val1486=) c.4245C>G (p.Val1415=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121605231C>T | CA477221772 | SORL1 | c.4770C>T (p.Val1590=) c.1602C>T (p.Val534=) c.615C>T (p.Val205=) c.1308C>T (p.Val436=) c.1500C>T (p.Val500=) c.4656C>T (p.Val1552=) c.3231C>T (p.Val1077=) c.2130C>T (p.Val710=) c.4458C>T (p.Val1486=) c.4245C>T (p.Val1415=) | |
11 | g.121605232T>A | CA383038920 | SORL1 | c.4771T>A (p.Tyr1591Asn) c.1603T>A (p.Tyr535Asn) c.616T>A (p.Tyr206Asn) c.1309T>A (p.Tyr437Asn) c.1501T>A (p.Tyr501Asn) c.4657T>A (p.Tyr1553Asn) c.3232T>A (p.Tyr1078Asn) c.2131T>A (p.Tyr711Asn) c.4459T>A (p.Tyr1487Asn) c.4246T>A (p.Tyr1416Asn) | |
11 | g.121605232T>C | CA383038919 | SORL1 | c.4771T>C (p.Tyr1591His) c.1603T>C (p.Tyr535His) c.616T>C (p.Tyr206His) c.1309T>C (p.Tyr437His) c.1501T>C (p.Tyr501His) c.4657T>C (p.Tyr1553His) c.3232T>C (p.Tyr1078His) c.2131T>C (p.Tyr711His) c.4459T>C (p.Tyr1487His) c.4246T>C (p.Tyr1416His) | |
11 | g.121605232T>G | CA383038921 | SORL1 | c.4771T>G (p.Tyr1591Asp) c.1603T>G (p.Tyr535Asp) c.616T>G (p.Tyr206Asp) c.1309T>G (p.Tyr437Asp) c.1501T>G (p.Tyr501Asp) c.4657T>G (p.Tyr1553Asp) c.3232T>G (p.Tyr1078Asp) c.2131T>G (p.Tyr711Asp) c.4459T>G (p.Tyr1487Asp) c.4246T>G (p.Tyr1416Asp) | |
11 | g.121605233A>C | CA383038922 | SORL1 | c.4772A>C (p.Tyr1591Ser) c.1604A>C (p.Tyr535Ser) c.617A>C (p.Tyr206Ser) c.1310A>C (p.Tyr437Ser) c.1502A>C (p.Tyr501Ser) c.4658A>C (p.Tyr1553Ser) c.3233A>C (p.Tyr1078Ser) c.2132A>C (p.Tyr711Ser) c.4460A>C (p.Tyr1487Ser) c.4247A>C (p.Tyr1416Ser) | |
11 | g.121605233A>G | CA383038923 | SORL1 | c.4772A>G (p.Tyr1591Cys) c.1604A>G (p.Tyr535Cys) c.617A>G (p.Tyr206Cys) c.1310A>G (p.Tyr437Cys) c.1502A>G (p.Tyr501Cys) c.4658A>G (p.Tyr1553Cys) c.3233A>G (p.Tyr1078Cys) c.2132A>G (p.Tyr711Cys) c.4460A>G (p.Tyr1487Cys) c.4247A>G (p.Tyr1416Cys) | |
11 | g.121605233A>T | CA383038924 | SORL1 | c.4772A>T (p.Tyr1591Phe) c.1604A>T (p.Tyr535Phe) c.617A>T (p.Tyr206Phe) c.1310A>T (p.Tyr437Phe) c.1502A>T (p.Tyr501Phe) c.4658A>T (p.Tyr1553Phe) c.3233A>T (p.Tyr1078Phe) c.2132A>T (p.Tyr711Phe) c.4460A>T (p.Tyr1487Phe) c.4247A>T (p.Tyr1416Phe) | |
11 | g.121605234C>A | CA383038925 | SORL1 | c.4773C>A (p.Tyr1591Ter) c.1605C>A (p.Tyr535Ter) c.618C>A (p.Tyr206Ter) c.1311C>A (p.Tyr437Ter) c.1503C>A (p.Tyr501Ter) c.4659C>A (p.Tyr1553Ter) c.3234C>A (p.Tyr1078Ter) c.2133C>A (p.Tyr711Ter) c.4461C>A (p.Tyr1487Ter) c.4248C>A (p.Tyr1416Ter) | gnomAD v4 |
11 | g.121605234C= | CA2004922219 | SORL1 | c.4773C= (p.Tyr1591=) c.1605C= (p.Tyr535=) c.618C= (p.Tyr206=) c.1311C= (p.Tyr437=) c.1503C= (p.Tyr501=) c.4659C= (p.Tyr1553=) c.3234C= (p.Tyr1078=) c.2133C= (p.Tyr711=) c.4461C= (p.Tyr1487=) c.4248C= (p.Tyr1416=) | |
11 | g.121605234C>G | CA383038926 | SORL1 | c.4773C>G (p.Tyr1591Ter) c.1605C>G (p.Tyr535Ter) c.618C>G (p.Tyr206Ter) c.1311C>G (p.Tyr437Ter) c.1503C>G (p.Tyr501Ter) c.4659C>G (p.Tyr1553Ter) c.3234C>G (p.Tyr1078Ter) c.2133C>G (p.Tyr711Ter) c.4461C>G (p.Tyr1487Ter) c.4248C>G (p.Tyr1416Ter) | |
11 | g.121605234C>T | CA477221774 | SORL1 | c.4773C>T (p.Tyr1591=) c.1605C>T (p.Tyr535=) c.618C>T (p.Tyr206=) c.1311C>T (p.Tyr437=) c.1503C>T (p.Tyr501=) c.4659C>T (p.Tyr1553=) c.3234C>T (p.Tyr1078=) c.2133C>T (p.Tyr711=) c.4461C>T (p.Tyr1487=) c.4248C>T (p.Tyr1416=) | dbSNP gnomAD v4 |
11 | g.121605235T>A | CA383038927 | SORL1 | c.4774T>A (p.Tyr1592Asn) c.1606T>A (p.Tyr536Asn) c.619T>A (p.Tyr207Asn) c.1312T>A (p.Tyr438Asn) c.1504T>A (p.Tyr502Asn) c.4660T>A (p.Tyr1554Asn) c.3235T>A (p.Tyr1079Asn) c.2134T>A (p.Tyr712Asn) c.4462T>A (p.Tyr1488Asn) c.4249T>A (p.Tyr1417Asn) | |
11 | g.121605235T>C | CA383038928 | SORL1 | c.4774T>C (p.Tyr1592His) c.1606T>C (p.Tyr536His) c.619T>C (p.Tyr207His) c.1312T>C (p.Tyr438His) c.1504T>C (p.Tyr502His) c.4660T>C (p.Tyr1554His) c.3235T>C (p.Tyr1079His) c.2134T>C (p.Tyr712His) c.4462T>C (p.Tyr1488His) c.4249T>C (p.Tyr1417His) | dbSNP gnomAD v4 |
11 | g.121605235T>G | CA383038929 | SORL1 | c.4774T>G (p.Tyr1592Asp) c.1606T>G (p.Tyr536Asp) c.619T>G (p.Tyr207Asp) c.1312T>G (p.Tyr438Asp) c.1504T>G (p.Tyr502Asp) c.4660T>G (p.Tyr1554Asp) c.3235T>G (p.Tyr1079Asp) c.2134T>G (p.Tyr712Asp) c.4462T>G (p.Tyr1488Asp) c.4249T>G (p.Tyr1417Asp) | |
11 | g.121605235T= | CA2004922222 | SORL1 | c.4774T= (p.Tyr1592=) c.1606T= (p.Tyr536=) c.619T= (p.Tyr207=) c.1312T= (p.Tyr438=) c.1504T= (p.Tyr502=) c.4660T= (p.Tyr1554=) c.3235T= (p.Tyr1079=) c.2134T= (p.Tyr712=) c.4462T= (p.Tyr1488=) c.4249T= (p.Tyr1417=) | |
11 | g.121605236A>C | CA383038930 | SORL1 | c.4775A>C (p.Tyr1592Ser) c.1607A>C (p.Tyr536Ser) c.620A>C (p.Tyr207Ser) c.1313A>C (p.Tyr438Ser) c.1505A>C (p.Tyr502Ser) c.4661A>C (p.Tyr1554Ser) c.3236A>C (p.Tyr1079Ser) c.2135A>C (p.Tyr712Ser) c.4463A>C (p.Tyr1488Ser) c.4250A>C (p.Tyr1417Ser) | |
11 | g.121605236A>G | CA383038931 | SORL1 | c.4775A>G (p.Tyr1592Cys) c.1607A>G (p.Tyr536Cys) c.620A>G (p.Tyr207Cys) c.1313A>G (p.Tyr438Cys) c.1505A>G (p.Tyr502Cys) c.4661A>G (p.Tyr1554Cys) c.3236A>G (p.Tyr1079Cys) c.2135A>G (p.Tyr712Cys) c.4463A>G (p.Tyr1488Cys) c.4250A>G (p.Tyr1417Cys) |