Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
11g.121605234C=CA2004922219SORL1c.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=)
11g.121605234C>GCA383038926SORL1c.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)
11g.121605234C>TCA477221774SORL1c.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
11g.121605235T>ACA383038927SORL1c.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)
11g.121605235T>CCA383038928SORL1c.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
11g.121605235T>GCA383038929SORL1c.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)
11g.121605235T=CA2004922222SORL1c.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=)
11g.121605236A>CCA383038930SORL1c.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)
11g.121605236A>GCA383038931SORL1c.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)
11g.121605236A>TCA383038932SORL1c.4775A>T (p.Tyr1592Phe)
c.1607A>T (p.Tyr536Phe)
c.620A>T (p.Tyr207Phe)
c.1313A>T (p.Tyr438Phe)
c.1505A>T (p.Tyr502Phe)
c.4661A>T (p.Tyr1554Phe)
c.3236A>T (p.Tyr1079Phe)
c.2135A>T (p.Tyr712Phe)
c.4463A>T (p.Tyr1488Phe)
c.4250A>T (p.Tyr1417Phe)
11g.121605237C>ACA383038933SORL1c.4776C>A (p.Tyr1592Ter)
c.1608C>A (p.Tyr536Ter)
c.621C>A (p.Tyr207Ter)
c.1314C>A (p.Tyr438Ter)
c.1506C>A (p.Tyr502Ter)
c.4662C>A (p.Tyr1554Ter)
c.3237C>A (p.Tyr1079Ter)
c.2136C>A (p.Tyr712Ter)
c.4464C>A (p.Tyr1488Ter)
c.4251C>A (p.Tyr1417Ter)
11g.121605237C=CA2004922225SORL1c.4776C= (p.Tyr1592=)
c.1608C= (p.Tyr536=)
c.621C= (p.Tyr207=)
c.1314C= (p.Tyr438=)
c.1506C= (p.Tyr502=)
c.4662C= (p.Tyr1554=)
c.3237C= (p.Tyr1079=)
c.2136C= (p.Tyr712=)
c.4464C= (p.Tyr1488=)
c.4251C= (p.Tyr1417=)
11g.121605237C>GCA383038934SORL1c.4776C>G (p.Tyr1592Ter)
c.1608C>G (p.Tyr536Ter)
c.621C>G (p.Tyr207Ter)
c.1314C>G (p.Tyr438Ter)
c.1506C>G (p.Tyr502Ter)
c.4662C>G (p.Tyr1554Ter)
c.3237C>G (p.Tyr1079Ter)
c.2136C>G (p.Tyr712Ter)
c.4464C>G (p.Tyr1488Ter)
c.4251C>G (p.Tyr1417Ter)
11g.121605237C>TCA229873667SORL1c.4776C>T (p.Tyr1592=)
c.1608C>T (p.Tyr536=)
c.621C>T (p.Tyr207=)
c.1314C>T (p.Tyr438=)
c.1506C>T (p.Tyr502=)
c.4662C>T (p.Tyr1554=)
c.3237C>T (p.Tyr1079=)
c.2136C>T (p.Tyr712=)
c.4464C>T (p.Tyr1488=)
c.4251C>T (p.Tyr1417=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121605238A>CCA477221775SORL1c.4777A>C (p.Arg1593=)
c.1609A>C (p.Arg537=)
c.622A>C (p.Arg208=)
c.1315A>C (p.Arg439=)
c.1507A>C (p.Arg503=)
c.4663A>C (p.Arg1555=)
c.3238A>C (p.Arg1080=)
c.2137A>C (p.Arg713=)
c.4465A>C (p.Arg1489=)
c.4252A>C (p.Arg1418=)
11g.121605238A>GCA383038935SORL1c.4777A>G (p.Arg1593Gly)
c.1609A>G (p.Arg537Gly)
c.622A>G (p.Arg208Gly)
c.1315A>G (p.Arg439Gly)
c.1507A>G (p.Arg503Gly)
c.4663A>G (p.Arg1555Gly)
c.3238A>G (p.Arg1080Gly)
c.2137A>G (p.Arg713Gly)
c.4465A>G (p.Arg1489Gly)
c.4252A>G (p.Arg1418Gly)
11g.121605238A>TCA383038936SORL1c.4777A>T (p.Arg1593Trp)
c.1609A>T (p.Arg537Trp)
c.622A>T (p.Arg208Trp)
c.1315A>T (p.Arg439Trp)
c.1507A>T (p.Arg503Trp)
c.4663A>T (p.Arg1555Trp)
c.3238A>T (p.Arg1080Trp)
c.2137A>T (p.Arg713Trp)
c.4465A>T (p.Arg1489Trp)
c.4252A>T (p.Arg1418Trp)
11g.121605239G>ACA383038937SORL1c.4778G>A (p.Arg1593Lys)
c.1610G>A (p.Arg537Lys)
c.623G>A (p.Arg208Lys)
c.1316G>A (p.Arg439Lys)
c.1508G>A (p.Arg503Lys)
c.4664G>A (p.Arg1555Lys)
c.3239G>A (p.Arg1080Lys)
c.2138G>A (p.Arg713Lys)
c.4466G>A (p.Arg1489Lys)
c.4253G>A (p.Arg1418Lys)
11g.121605239G>CCA383038938SORL1c.4778G>C (p.Arg1593Thr)
c.1610G>C (p.Arg537Thr)
c.623G>C (p.Arg208Thr)
c.1316G>C (p.Arg439Thr)
c.1508G>C (p.Arg503Thr)
c.4664G>C (p.Arg1555Thr)
c.3239G>C (p.Arg1080Thr)
c.2138G>C (p.Arg713Thr)
c.4466G>C (p.Arg1489Thr)
c.4253G>C (p.Arg1418Thr)
11g.121605239G>TCA383038939SORL1c.4778G>T (p.Arg1593Met)
c.1610G>T (p.Arg537Met)
c.623G>T (p.Arg208Met)
c.1316G>T (p.Arg439Met)
c.1508G>T (p.Arg503Met)
c.4664G>T (p.Arg1555Met)
c.3239G>T (p.Arg1080Met)
c.2138G>T (p.Arg713Met)
c.4466G>T (p.Arg1489Met)
c.4253G>T (p.Arg1418Met)
11g.121605240G>ACA383038940SORL1c.4778+1G>A (n.4778+1G>A)
c.1610+1G>A (n.1610+1G>A)
c.623+1G>A (n.623+1G>A)
c.1316+1G>A (n.1316+1G>A)
c.1508+1G>A (n.1508+1G>A)
c.4664+1G>A (n.4664+1G>A)
c.3239+1G>A (n.3239+1G>A)
c.2138+1G>A (n.2138+1G>A)
c.4466+1G>A (n.4466+1G>A)
c.4253+1G>A (n.4253+1G>A)
11g.121605240G>CCA383038941SORL1c.4778+1G>C (n.4778+1G>C)
c.1610+1G>C (n.1610+1G>C)
c.623+1G>C (n.623+1G>C)
c.1316+1G>C (n.1316+1G>C)
c.1508+1G>C (n.1508+1G>C)
c.4664+1G>C (n.4664+1G>C)
c.3239+1G>C (n.3239+1G>C)
c.2138+1G>C (n.2138+1G>C)
c.4466+1G>C (n.4466+1G>C)
c.4253+1G>C (n.4253+1G>C)

Number of alleles fetched