Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121605219T>ACA383038873SORL1c.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)
11g.121605219T>CCA477221766SORL1c.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=)
11g.121605219T>GCA383038876SORL1c.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)
11g.121605220G>ACA383038879SORL1c.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)
11g.121605220G>CCA383038881SORL1c.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)
11g.121605220G>TCA383038884SORL1c.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
11g.121605221T>ACA383038887SORL1c.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)
11g.121605221T>CCA383038889SORL1c.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)
11g.121605221T>GCA383038892SORL1c.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)
11g.121605222A>CCA477221767SORL1c.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=)
11g.121605222A>GCA477221768SORL1c.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
11g.121605222A>TCA477221769SORL1c.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=)
11g.121605223T>ACA383038894SORL1c.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)
11g.121605223T>CCA383038896SORL1c.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)
11g.121605223T>GCA383038898SORL1c.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)
11g.121605224A=CA2004922206SORL1c.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=)
11g.121605224A>CCA383038902SORL1c.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)
11g.121605224A>GCA6329733SORL1c.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
11g.121605224A>TCA383038903SORL1c.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)
11g.121605225T>ACA383038904SORL1c.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)
11g.121605225T>CCA477221770SORL1c.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=)
11g.121605225T>GCA383038905SORL1c.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)
11g.121605226A=CA2004922210SORL1c.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=)
11g.121605226A>CCA383038906SORL1c.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)
11g.121605226A>GCA383038907SORL1c.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
11g.121605226A>TCA383038908SORL1c.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)
11g.121605227A=CA2004922214SORL1c.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=)
11g.121605227A>CCA383038909SORL1c.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)
11g.121605227A>GCA229873655SORL1c.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
11g.121605227A>TCA383038910SORL1c.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)
11g.121605228T>ACA383038911SORL1c.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)
11g.121605228T>CCA477221771SORL1c.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=)
11g.121605228T>GCA383038912SORL1c.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)
11g.121605229G>ACA383038913SORL1c.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
11g.121605229G>CCA383038914SORL1c.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)
11g.121605229G>TCA383038915SORL1c.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)
11g.121605230T>ACA383038916SORL1c.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)
11g.121605230T>CCA383038917SORL1c.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)
11g.121605230T>GCA383038918SORL1c.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
11g.121605231C>ACA477221773SORL1c.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=)
11g.121605231C=CA2004922216SORL1c.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=)
11g.121605231C>GCA6329734SORL1c.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
11g.121605231C>TCA477221772SORL1c.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=)
11g.121605232T>ACA383038920SORL1c.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)
11g.121605232T>CCA383038919SORL1c.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)
11g.121605232T>GCA383038921SORL1c.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)
11g.121605233A>CCA383038922SORL1c.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)
11g.121605233A>GCA383038923SORL1c.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)
11g.121605233A>TCA383038924SORL1c.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)
11g.121605234C>ACA383038925SORL1c.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

Number of alleles fetched