Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47937190_47937209delinsATAACCCTCTTTTCCATATCCA1455551870CNGA1,NIPAL1c.1273_1292delinsGATATGGAAAAGAGGGTTAT (p.Asp425=)
c.1285_1304delinsGATATGGAAAAGAGGGTTAT (p.Asp429=)
c.1492_1511delinsGATATGGAAAAGAGGGTTAT (p.Asp498=)
n.479-21834_479-21815delinsATAACCCTCTTTTCCATATC
n.563+22486_563+22505delinsATAACCCTCTTTTCCATATC
c.1510_1529delinsGATATGGAAAAGAGGGTTAT (p.Asp504=)
4g.47937192_47937210delCA1455551871CNGA1,NIPAL1c.1273_1291del (p.Asp425LeufsTer20)
c.1285_1303del (p.Asp429LeufsTer20)
c.1492_1510del (p.Asp498LeufsTer20)
n.479-21832_479-21814del
n.563+22488_563+22506del
c.1510_1528del (p.Asp504LeufsTer20)
 dbSNP
4g.47937203C>ACA356826195CNGA1,NIPAL1c.1279G>T (p.Glu427Ter)
c.1291G>T (p.Glu431Ter)
c.1498G>T (p.Glu500Ter)
n.479-21821C>A
n.563+22499C>A
c.1516G>T (p.Glu506Ter)
4g.47937203C=CA1455551876CNGA1,NIPAL1c.1279G= (p.Glu427=)
c.1291G= (p.Glu431=)
c.1498G= (p.Glu500=)
n.479-21821C=
n.563+22499C=
c.1516G= (p.Glu506=)
4g.47937203C>GCA356826197CNGA1,NIPAL1c.1279G>C (p.Glu427Gln)
c.1291G>C (p.Glu431Gln)
c.1498G>C (p.Glu500Gln)
n.479-21821C>G
n.563+22499C>G
c.1516G>C (p.Glu506Gln)
4g.47937203C>TCA2911104CNGA1,NIPAL1c.1279G>A (p.Glu427Lys)
c.1291G>A (p.Glu431Lys)
c.1498G>A (p.Glu500Lys)
n.479-21821C>T
n.563+22499C>T
c.1516G>A (p.Glu506Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47937204C>ACA356826203CNGA1,NIPAL1c.1278G>T (p.Met426Ile)
c.1290G>T (p.Met430Ile)
c.1497G>T (p.Met499Ile)
n.479-21820C>A
n.563+22500C>A
c.1515G>T (p.Met505Ile)
4g.47937204C>GCA356826205CNGA1,NIPAL1c.1278G>C (p.Met426Ile)
c.1290G>C (p.Met430Ile)
c.1497G>C (p.Met499Ile)
n.479-21820C>G
n.563+22500C>G
c.1515G>C (p.Met505Ile)
4g.47937204C>TCA356826201CNGA1,NIPAL1c.1278G>A (p.Met426Ile)
c.1290G>A (p.Met430Ile)
c.1497G>A (p.Met499Ile)
n.479-21820C>T
n.563+22500C>T
c.1515G>A (p.Met505Ile)
4g.47937204_47937205delinsCACA1455551877CNGA1,NIPAL1c.1277_1278delinsTG (p.Met426=)
c.1289_1290delinsTG (p.Met430=)
c.1496_1497delinsTG (p.Met499=)
n.479-21820_479-21819delinsCA
n.563+22500_563+22501delinsCA
c.1514_1515delinsTG (p.Met505=)
4g.47937205delCA551650453CNGA1,NIPAL1c.1277del (p.Met426ArgfsTer25)
c.1289del (p.Met430ArgfsTer25)
c.1496del (p.Met499ArgfsTer25)
n.479-21819del
n.563+22501del
c.1514del (p.Met505ArgfsTer25)
 dbSNP gnomAD v2 gnomAD v4
4g.47937205A=CA1455551878CNGA1,NIPAL1c.1277T= (p.Met426=)
c.1289T= (p.Met430=)
c.1496T= (p.Met499=)
n.479-21819A=
n.563+22501A=
c.1514T= (p.Met505=)
4g.47937205A>CCA356826208CNGA1,NIPAL1c.1277T>G (p.Met426Arg)
c.1289T>G (p.Met430Arg)
c.1496T>G (p.Met499Arg)
n.479-21819A>C
n.563+22501A>C
c.1514T>G (p.Met505Arg)
4g.47937205A>GCA356826212CNGA1,NIPAL1c.1277T>C (p.Met426Thr)
c.1289T>C (p.Met430Thr)
c.1496T>C (p.Met499Thr)
n.479-21819A>G
n.563+22501A>G
c.1514T>C (p.Met505Thr)
 dbSNP gnomAD v4
4g.47937205A>TCA356826214CNGA1,NIPAL1c.1277T>A (p.Met426Lys)
c.1289T>A (p.Met430Lys)
c.1496T>A (p.Met499Lys)
n.479-21819A>T
n.563+22501A>T
c.1514T>A (p.Met505Lys)
4g.47937206T>ACA356826216CNGA1,NIPAL1c.1276A>T (p.Met426Leu)
c.1288A>T (p.Met430Leu)
c.1495A>T (p.Met499Leu)
n.479-21818T>A
n.563+22502T>A
c.1513A>T (p.Met505Leu)
 dbSNP gnomAD v4
4g.47937206T>CCA356826219CNGA1,NIPAL1c.1276A>G (p.Met426Val)
c.1288A>G (p.Met430Val)
c.1495A>G (p.Met499Val)
n.479-21818T>C
n.563+22502T>C
c.1513A>G (p.Met505Val)
4g.47937206T>GCA356826222CNGA1,NIPAL1c.1276A>C (p.Met426Leu)
c.1288A>C (p.Met430Leu)
c.1495A>C (p.Met499Leu)
n.479-21818T>G
n.563+22502T>G
c.1513A>C (p.Met505Leu)
4g.47937206T=CA1455551879CNGA1,NIPAL1c.1276A= (p.Met426=)
c.1288A= (p.Met430=)
c.1495A= (p.Met499=)
n.479-21818T=
n.563+22502T=
c.1513A= (p.Met505=)
4g.47937207A=CA1455551880CNGA1,NIPAL1c.1275T= (p.Asp425=)
c.1287T= (p.Asp429=)
c.1494T= (p.Asp498=)
n.479-21817A=
n.563+22503A=
c.1512T= (p.Asp504=)
4g.47937207A>CCA356826223CNGA1,NIPAL1c.1275T>G (p.Asp425Glu)
c.1287T>G (p.Asp429Glu)
c.1494T>G (p.Asp498Glu)
n.479-21817A>C
n.563+22503A>C
c.1512T>G (p.Asp504Glu)
 gnomAD v4
4g.47937207A>GCA96688838CNGA1,NIPAL1c.1275T>C (p.Asp425=)
c.1287T>C (p.Asp429=)
c.1494T>C (p.Asp498=)
n.479-21817A>G
n.563+22503A>G
c.1512T>C (p.Asp504=)
 dbSNP
4g.47937207A>TCA356826225CNGA1,NIPAL1c.1275T>A (p.Asp425Glu)
c.1287T>A (p.Asp429Glu)
c.1494T>A (p.Asp498Glu)
n.479-21817A>T
n.563+22503A>T
c.1512T>A (p.Asp504Glu)
4g.47937208T>ACA356826230CNGA1,NIPAL1c.1274A>T (p.Asp425Val)
c.1286A>T (p.Asp429Val)
c.1493A>T (p.Asp498Val)
n.479-21816T>A
n.563+22504T>A
c.1511A>T (p.Asp504Val)
4g.47937208T>CCA96688839CNGA1,NIPAL1c.1274A>G (p.Asp425Gly)
c.1286A>G (p.Asp429Gly)
c.1493A>G (p.Asp498Gly)
n.479-21816T>C
n.563+22504T>C
c.1511A>G (p.Asp504Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937208T>GCA356826233CNGA1,NIPAL1c.1274A>C (p.Asp425Ala)
c.1286A>C (p.Asp429Ala)
c.1493A>C (p.Asp498Ala)
n.479-21816T>G
n.563+22504T>G
c.1511A>C (p.Asp504Ala)
4g.47937208T=CA1455551881CNGA1,NIPAL1c.1274A= (p.Asp425=)
c.1286A= (p.Asp429=)
c.1493A= (p.Asp498=)
n.479-21816T=
n.563+22504T=
c.1511A= (p.Asp504=)
4g.47937209C>ACA2911105CNGA1,NIPAL1c.1273G>T (p.Asp425Tyr)
c.1285G>T (p.Asp429Tyr)
c.1492G>T (p.Asp498Tyr)
n.479-21815C>A
n.563+22505C>A
c.1510G>T (p.Asp504Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937209C=CA1455551882CNGA1,NIPAL1c.1273G= (p.Asp425=)
c.1285G= (p.Asp429=)
c.1492G= (p.Asp498=)
n.479-21815C=
n.563+22505C=
c.1510G= (p.Asp504=)
4g.47937209C>GCA356826242CNGA1,NIPAL1c.1273G>C (p.Asp425His)
c.1285G>C (p.Asp429His)
c.1492G>C (p.Asp498His)
n.479-21815C>G
n.563+22505C>G
c.1510G>C (p.Asp504His)
4g.47937209C>TCA356826245CNGA1,NIPAL1c.1273G>A (p.Asp425Asn)
c.1285G>A (p.Asp429Asn)
c.1492G>A (p.Asp498Asn)
n.479-21815C>T
n.563+22505C>T
c.1510G>A (p.Asp504Asn)
4g.47937210T>ACA356826252CNGA1,NIPAL1c.1272A>T (p.Lys424Asn)
c.1284A>T (p.Lys428Asn)
c.1491A>T (p.Lys497Asn)
n.479-21814T>A
n.563+22506T>A
c.1509A>T (p.Lys503Asn)
4g.47937210T>CCA439404135CNGA1,NIPAL1c.1272A>G (p.Lys424=)
c.1284A>G (p.Lys428=)
c.1491A>G (p.Lys497=)
n.479-21814T>C
n.563+22506T>C
c.1509A>G (p.Lys503=)
4g.47937210T>GCA356826249CNGA1,NIPAL1c.1272A>C (p.Lys424Asn)
c.1284A>C (p.Lys428Asn)
c.1491A>C (p.Lys497Asn)
n.479-21814T>G
n.563+22506T>G
c.1509A>C (p.Lys503Asn)
4g.47937212delCA2761332300CNGA1,NIPAL1c.1272del (p.Asp425IlefsTer26)
c.1284del (p.Asp429IlefsTer26)
c.1491del (p.Asp498IlefsTer26)
n.479-21812del
n.563+22508del
c.1509del (p.Asp504IlefsTer26)
4g.47937211T>ACA356826256CNGA1,NIPAL1c.1271A>T (p.Lys424Ile)
c.1283A>T (p.Lys428Ile)
c.1490A>T (p.Lys497Ile)
n.479-21813T>A
n.563+22507T>A
c.1508A>T (p.Lys503Ile)
 COSMIC
4g.47937211T>CCA356826259CNGA1,NIPAL1c.1271A>G (p.Lys424Arg)
c.1283A>G (p.Lys428Arg)
c.1490A>G (p.Lys497Arg)
n.479-21813T>C
n.563+22507T>C
c.1508A>G (p.Lys503Arg)
4g.47937211T>GCA356826262CNGA1,NIPAL1c.1271A>C (p.Lys424Thr)
c.1283A>C (p.Lys428Thr)
c.1490A>C (p.Lys497Thr)
n.479-21813T>G
n.563+22507T>G
c.1508A>C (p.Lys503Thr)
4g.47937212T>ACA356826265CNGA1,NIPAL1c.1270A>T (p.Lys424Ter)
c.1282A>T (p.Lys428Ter)
c.1489A>T (p.Lys497Ter)
n.479-21812T>A
n.563+22508T>A
c.1507A>T (p.Lys503Ter)
4g.47937212T>CCA356826268CNGA1,NIPAL1c.1270A>G (p.Lys424Glu)
c.1282A>G (p.Lys428Glu)
c.1489A>G (p.Lys497Glu)
n.479-21812T>C
n.563+22508T>C
c.1507A>G (p.Lys503Glu)
4g.47937212T>GCA356826271CNGA1,NIPAL1c.1270A>C (p.Lys424Gln)
c.1282A>C (p.Lys428Gln)
c.1489A>C (p.Lys497Gln)
n.479-21812T>G
n.563+22508T>G
c.1507A>C (p.Lys503Gln)
4g.47937213G>ACA439404138CNGA1,NIPAL1c.1269C>T (p.Ser423=)
c.1281C>T (p.Ser427=)
c.1488C>T (p.Ser496=)
n.479-21811G>A
n.563+22509G>A
c.1506C>T (p.Ser502=)
4g.47937213G>CCA356826276CNGA1,NIPAL1c.1269C>G (p.Ser423Arg)
c.1281C>G (p.Ser427Arg)
c.1488C>G (p.Ser496Arg)
n.479-21811G>C
n.563+22509G>C
c.1506C>G (p.Ser502Arg)
4g.47937213G>TCA356826275CNGA1,NIPAL1c.1269C>A (p.Ser423Arg)
c.1281C>A (p.Ser427Arg)
c.1488C>A (p.Ser496Arg)
n.479-21811G>T
n.563+22509G>T
c.1506C>A (p.Ser502Arg)
4g.47937214C>ACA356826279CNGA1,NIPAL1c.1268G>T (p.Ser423Ile)
c.1280G>T (p.Ser427Ile)
c.1487G>T (p.Ser496Ile)
n.479-21810C>A
n.563+22510C>A
c.1505G>T (p.Ser502Ile)
4g.47937214C>GCA356826281CNGA1,NIPAL1c.1268G>C (p.Ser423Thr)
c.1280G>C (p.Ser427Thr)
c.1487G>C (p.Ser496Thr)
n.479-21810C>G
n.563+22510C>G
c.1505G>C (p.Ser502Thr)
4g.47937214C>TCA356826282CNGA1,NIPAL1c.1268G>A (p.Ser423Asn)
c.1280G>A (p.Ser427Asn)
c.1487G>A (p.Ser496Asn)
n.479-21810C>T
n.563+22510C>T
c.1505G>A (p.Ser502Asn)
4g.47937215T>ACA356826285CNGA1,NIPAL1c.1267A>T (p.Ser423Cys)
c.1279A>T (p.Ser427Cys)
c.1486A>T (p.Ser496Cys)
n.479-21809T>A
n.563+22511T>A
c.1504A>T (p.Ser502Cys)
4g.47937215T>CCA356826287CNGA1,NIPAL1c.1267A>G (p.Ser423Gly)
c.1279A>G (p.Ser427Gly)
c.1486A>G (p.Ser496Gly)
n.479-21809T>C
n.563+22511T>C
c.1504A>G (p.Ser502Gly)
4g.47937215T>GCA356826288CNGA1,NIPAL1c.1267A>C (p.Ser423Arg)
c.1279A>C (p.Ser427Arg)
c.1486A>C (p.Ser496Arg)
n.479-21809T>G
n.563+22511T>G
c.1504A>C (p.Ser502Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.47937215T=CA1455551883CNGA1,NIPAL1c.1267A= (p.Ser423=)
c.1279A= (p.Ser427=)
c.1486A= (p.Ser496=)
n.479-21809T=
n.563+22511T=
c.1504A= (p.Ser502=)
4g.47937216T>ACA439404142CNGA1,NIPAL1c.1266A>T (p.Val422=)
c.1278A>T (p.Val426=)
c.1485A>T (p.Val495=)
n.479-21808T>A
n.563+22512T>A
c.1503A>T (p.Val501=)
4g.47937216T>CCA439404143CNGA1,NIPAL1c.1266A>G (p.Val422=)
c.1278A>G (p.Val426=)
c.1485A>G (p.Val495=)
n.479-21808T>C
n.563+22512T>C
c.1503A>G (p.Val501=)
4g.47937216T>GCA439404146CNGA1,NIPAL1c.1266A>C (p.Val422=)
c.1278A>C (p.Val426=)
c.1485A>C (p.Val495=)
n.479-21808T>G
n.563+22512T>G
c.1503A>C (p.Val501=)
4g.47937217A>CCA356826294CNGA1,NIPAL1c.1265T>G (p.Val422Gly)
c.1277T>G (p.Val426Gly)
c.1484T>G (p.Val495Gly)
n.479-21807A>C
n.563+22513A>C
c.1502T>G (p.Val501Gly)
4g.47937217A>GCA356826292CNGA1,NIPAL1c.1265T>C (p.Val422Ala)
c.1277T>C (p.Val426Ala)
c.1484T>C (p.Val495Ala)
n.479-21807A>G
n.563+22513A>G
c.1502T>C (p.Val501Ala)
4g.47937217A>TCA356826293CNGA1,NIPAL1c.1265T>A (p.Val422Glu)
c.1277T>A (p.Val426Glu)
c.1484T>A (p.Val495Glu)
n.479-21807A>T
n.563+22513A>T
c.1502T>A (p.Val501Glu)
4g.47937218C>ACA356826297CNGA1,NIPAL1c.1264G>T (p.Val422Leu)
c.1276G>T (p.Val426Leu)
c.1483G>T (p.Val495Leu)
n.479-21806C>A
n.563+22514C>A
c.1501G>T (p.Val501Leu)
4g.47937218C>GCA356826298CNGA1,NIPAL1c.1264G>C (p.Val422Leu)
c.1276G>C (p.Val426Leu)
c.1483G>C (p.Val495Leu)
n.479-21806C>G
n.563+22514C>G
c.1501G>C (p.Val501Leu)
4g.47937218C>TCA356826301CNGA1,NIPAL1c.1264G>A (p.Val422Ile)
c.1276G>A (p.Val426Ile)
c.1483G>A (p.Val495Ile)
n.479-21806C>T
n.563+22514C>T
c.1501G>A (p.Val501Ile)
4g.47937219A=CA1455551884CNGA1,NIPAL1c.1263T= (p.Asn421=)
c.1275T= (p.Asn425=)
c.1482T= (p.Asn494=)
n.479-21805A=
n.563+22515A=
c.1500T= (p.Asn500=)
4g.47937219A>CCA356826303CNGA1,NIPAL1c.1263T>G (p.Asn421Lys)
c.1275T>G (p.Asn425Lys)
c.1482T>G (p.Asn494Lys)
n.479-21805A>C
n.563+22515A>C
c.1500T>G (p.Asn500Lys)
4g.47937219A>GCA439404148CNGA1,NIPAL1c.1263T>C (p.Asn421=)
c.1275T>C (p.Asn425=)
c.1482T>C (p.Asn494=)
n.479-21805A>G
n.563+22515A>G
c.1500T>C (p.Asn500=)
 dbSNP
4g.47937219A>TCA356826305CNGA1,NIPAL1c.1263T>A (p.Asn421Lys)
c.1275T>A (p.Asn425Lys)
c.1482T>A (p.Asn494Lys)
n.479-21805A>T
n.563+22515A>T
c.1500T>A (p.Asn500Lys)
4g.47937220T>ACA356826308CNGA1,NIPAL1c.1262A>T (p.Asn421Ile)
c.1274A>T (p.Asn425Ile)
c.1481A>T (p.Asn494Ile)
n.479-21804T>A
n.563+22516T>A
c.1499A>T (p.Asn500Ile)
4g.47937220T>CCA356826311CNGA1,NIPAL1c.1262A>G (p.Asn421Ser)
c.1274A>G (p.Asn425Ser)
c.1481A>G (p.Asn494Ser)
n.479-21804T>C
n.563+22516T>C
c.1499A>G (p.Asn500Ser)
4g.47937220T>GCA356826312CNGA1,NIPAL1c.1262A>C (p.Asn421Thr)
c.1274A>C (p.Asn425Thr)
c.1481A>C (p.Asn494Thr)
n.479-21804T>G
n.563+22516T>G
c.1499A>C (p.Asn500Thr)
4g.47937221T>ACA356826315CNGA1,NIPAL1c.1261A>T (p.Asn421Tyr)
c.1273A>T (p.Asn425Tyr)
c.1480A>T (p.Asn494Tyr)
n.479-21803T>A
n.563+22517T>A
c.1498A>T (p.Asn500Tyr)
4g.47937221T>CCA356826317CNGA1,NIPAL1c.1261A>G (p.Asn421Asp)
c.1273A>G (p.Asn425Asp)
c.1480A>G (p.Asn494Asp)
n.479-21803T>C
n.563+22517T>C
c.1498A>G (p.Asn500Asp)
4g.47937221T>GCA356826319CNGA1,NIPAL1c.1261A>C (p.Asn421His)
c.1273A>C (p.Asn425His)
c.1480A>C (p.Asn494His)
n.479-21803T>G
n.563+22517T>G
c.1498A>C (p.Asn500His)
4g.47937222T>ACA439404152CNGA1,NIPAL1c.1260A>T (p.Arg420=)
c.1272A>T (p.Arg424=)
c.1479A>T (p.Arg493=)
n.479-21802T>A
n.563+22518T>A
c.1497A>T (p.Arg499=)
4g.47937222T>CCA439404153CNGA1,NIPAL1c.1260A>G (p.Arg420=)
c.1272A>G (p.Arg424=)
c.1479A>G (p.Arg493=)
n.479-21802T>C
n.563+22518T>C
c.1497A>G (p.Arg499=)
4g.47937222T>GCA439404154CNGA1,NIPAL1c.1260A>C (p.Arg420=)
c.1272A>C (p.Arg424=)
c.1479A>C (p.Arg493=)
n.479-21802T>G
n.563+22518T>G
c.1497A>C (p.Arg499=)
4g.47937223C>ACA356826323CNGA1,NIPAL1c.1259G>T (p.Arg420Leu)
c.1271G>T (p.Arg424Leu)
c.1478G>T (p.Arg493Leu)
n.479-21801C>A
n.563+22519C>A
c.1496G>T (p.Arg499Leu)
 dbSNP gnomAD v4
4g.47937223C=CA1455551885CNGA1,NIPAL1c.1259G= (p.Arg420=)
c.1271G= (p.Arg424=)
c.1478G= (p.Arg493=)
n.479-21801C=
n.563+22519C=
c.1496G= (p.Arg499=)
4g.47937223C>GCA356826324CNGA1,NIPAL1c.1259G>C (p.Arg420Pro)
c.1271G>C (p.Arg424Pro)
c.1478G>C (p.Arg493Pro)
n.479-21801C>G
n.563+22519C>G
c.1496G>C (p.Arg499Pro)
4g.47937223C>TCA2911106CNGA1,NIPAL1c.1259G>A (p.Arg420Gln)
c.1271G>A (p.Arg424Gln)
c.1478G>A (p.Arg493Gln)
n.479-21801C>T
n.563+22519C>T
c.1496G>A (p.Arg499Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47937224G>ACA2911107CNGA1,NIPAL1c.1258C>T (p.Arg420Ter)
c.1270C>T (p.Arg424Ter)
c.1477C>T (p.Arg493Ter)
n.479-21800G>A
n.563+22520G>A
c.1495C>T (p.Arg499Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.47937224G>CCA356826328CNGA1,NIPAL1c.1258C>G (p.Arg420Gly)
c.1270C>G (p.Arg424Gly)
c.1477C>G (p.Arg493Gly)
n.479-21800G>C
n.563+22520G>C
c.1495C>G (p.Arg499Gly)
4g.47937224G=CA1455551886CNGA1,NIPAL1c.1258C= (p.Arg420=)
c.1270C= (p.Arg424=)
c.1477C= (p.Arg493=)
n.479-21800G=
n.563+22520G=
c.1495C= (p.Arg499=)
4g.47937224G>TCA439404155CNGA1,NIPAL1c.1258C>A (p.Arg420=)
c.1270C>A (p.Arg424=)
c.1477C>A (p.Arg493=)
n.479-21800G>T
n.563+22520G>T
c.1495C>A (p.Arg499=)
4g.47937225A>CCA356826333CNGA1,NIPAL1c.1257T>G (p.Phe419Leu)
c.1269T>G (p.Phe423Leu)
c.1476T>G (p.Phe492Leu)
n.479-21799A>C
n.563+22521A>C
c.1494T>G (p.Phe498Leu)
4g.47937225A>GCA439404156CNGA1,NIPAL1c.1257T>C (p.Phe419=)
c.1269T>C (p.Phe423=)
c.1476T>C (p.Phe492=)
n.479-21799A>G
n.563+22521A>G
c.1494T>C (p.Phe498=)
4g.47937225A>TCA356826335CNGA1,NIPAL1c.1257T>A (p.Phe419Leu)
c.1269T>A (p.Phe423Leu)
c.1476T>A (p.Phe492Leu)
n.479-21799A>T
n.563+22521A>T
c.1494T>A (p.Phe498Leu)
4g.47937226A>CCA356826338CNGA1,NIPAL1c.1256T>G (p.Phe419Cys)
c.1268T>G (p.Phe423Cys)
c.1475T>G (p.Phe492Cys)
n.479-21798A>C
n.563+22522A>C
c.1493T>G (p.Phe498Cys)
4g.47937226A>GCA356826340CNGA1,NIPAL1c.1256T>C (p.Phe419Ser)
c.1268T>C (p.Phe423Ser)
c.1475T>C (p.Phe492Ser)
n.479-21798A>G
n.563+22522A>G
c.1493T>C (p.Phe498Ser)
4g.47937226A>TCA356826342CNGA1,NIPAL1c.1256T>A (p.Phe419Tyr)
c.1268T>A (p.Phe423Tyr)
c.1475T>A (p.Phe492Tyr)
n.479-21798A>T
n.563+22522A>T
c.1493T>A (p.Phe498Tyr)
4g.47937227A>CCA356826345CNGA1,NIPAL1c.1255T>G (p.Phe419Val)
c.1267T>G (p.Phe423Val)
c.1474T>G (p.Phe492Val)
n.479-21797A>C
n.563+22523A>C
c.1492T>G (p.Phe498Val)
4g.47937227A>GCA356826347CNGA1,NIPAL1c.1255T>C (p.Phe419Leu)
c.1267T>C (p.Phe423Leu)
c.1474T>C (p.Phe492Leu)
n.479-21797A>G
n.563+22523A>G
c.1492T>C (p.Phe498Leu)
 COSMIC
4g.47937227A>TCA356826349CNGA1,NIPAL1c.1255T>A (p.Phe419Ile)
c.1267T>A (p.Phe423Ile)
c.1474T>A (p.Phe492Ile)
n.479-21797A>T
n.563+22523A>T
c.1492T>A (p.Phe498Ile)
4g.47937227_47937240delCA2499217220CNGA1,NIPAL1c.1242_1255del (p.Lys414AsnfsTer14)
c.1254_1267del (p.Lys418AsnfsTer14)
c.1461_1474del (p.Lys487AsnfsTer14)
n.479-21797_479-21784del
n.563+22523_563+22536del
c.1479_1492del (p.Lys493AsnfsTer14)
 ClinVar dbSNP
4g.47937228A>CCA356826351CNGA1,NIPAL1c.1254T>G (p.His418Gln)
c.1266T>G (p.His422Gln)
c.1473T>G (p.His491Gln)
n.479-21796A>C
n.563+22524A>C
c.1491T>G (p.His497Gln)
4g.47937228A>GCA439404159CNGA1,NIPAL1c.1254T>C (p.His418=)
c.1266T>C (p.His422=)
c.1473T>C (p.His491=)
n.479-21796A>G
n.563+22524A>G
c.1491T>C (p.His497=)
4g.47937228A>TCA356826353CNGA1,NIPAL1c.1254T>A (p.His418Gln)
c.1266T>A (p.His422Gln)
c.1473T>A (p.His491Gln)
n.479-21796A>T
n.563+22524A>T
c.1491T>A (p.His497Gln)
4g.47937229T>ACA356826356CNGA1,NIPAL1c.1253A>T (p.His418Leu)
c.1265A>T (p.His422Leu)
c.1472A>T (p.His491Leu)
n.479-21795T>A
n.563+22525T>A
c.1490A>T (p.His497Leu)
4g.47937229T>CCA356826357CNGA1,NIPAL1c.1253A>G (p.His418Arg)
c.1265A>G (p.His422Arg)
c.1472A>G (p.His491Arg)
n.479-21795T>C
n.563+22525T>C
c.1490A>G (p.His497Arg)
4g.47937229T>GCA356826360CNGA1,NIPAL1c.1253A>C (p.His418Pro)
c.1265A>C (p.His422Pro)
c.1472A>C (p.His491Pro)
n.479-21795T>G
n.563+22525T>G
c.1490A>C (p.His497Pro)
4g.47937230G>ACA356826362CNGA1,NIPAL1c.1252C>T (p.His418Tyr)
c.1264C>T (p.His422Tyr)
c.1471C>T (p.His491Tyr)
n.479-21794G>A
n.563+22526G>A
c.1489C>T (p.His497Tyr)
4g.47937230G>CCA356826365CNGA1,NIPAL1c.1252C>G (p.His418Asp)
c.1264C>G (p.His422Asp)
c.1471C>G (p.His491Asp)
n.479-21794G>C
n.563+22526G>C
c.1489C>G (p.His497Asp)
4g.47937230G>TCA356826364CNGA1,NIPAL1c.1252C>A (p.His418Asn)
c.1264C>A (p.His422Asn)
c.1471C>A (p.His491Asn)
n.479-21794G>T
n.563+22526G>T
c.1489C>A (p.His497Asn)
4g.47937231C>ACA356826369CNGA1,NIPAL1c.1251G>T (p.Met417Ile)
c.1263G>T (p.Met421Ile)
c.1470G>T (p.Met490Ile)
n.479-21793C>A
n.563+22527C>A
c.1488G>T (p.Met496Ile)
4g.47937231C>GCA356826372CNGA1,NIPAL1c.1251G>C (p.Met417Ile)
c.1263G>C (p.Met421Ile)
c.1470G>C (p.Met490Ile)
n.479-21793C>G
n.563+22527C>G
c.1488G>C (p.Met496Ile)
4g.47937231C>TCA356826370CNGA1,NIPAL1c.1251G>A (p.Met417Ile)
c.1263G>A (p.Met421Ile)
c.1470G>A (p.Met490Ile)
n.479-21793C>T
n.563+22527C>T
c.1488G>A (p.Met496Ile)
4g.47937232A=CA1455551887CNGA1,NIPAL1c.1250T= (p.Met417=)
c.1262T= (p.Met421=)
c.1469T= (p.Met490=)
n.479-21792A=
n.563+22528A=
c.1487T= (p.Met496=)
4g.47937232A>CCA356826375CNGA1,NIPAL1c.1250T>G (p.Met417Arg)
c.1262T>G (p.Met421Arg)
c.1469T>G (p.Met490Arg)
n.479-21792A>C
n.563+22528A>C
c.1487T>G (p.Met496Arg)
4g.47937232A>GCA96688843CNGA1,NIPAL1c.1250T>C (p.Met417Thr)
c.1262T>C (p.Met421Thr)
c.1469T>C (p.Met490Thr)
n.479-21792A>G
n.563+22528A>G
c.1487T>C (p.Met496Thr)
 dbSNP gnomAD v4
4g.47937232A>TCA356826378CNGA1,NIPAL1c.1250T>A (p.Met417Lys)
c.1262T>A (p.Met421Lys)
c.1469T>A (p.Met490Lys)
n.479-21792A>T
n.563+22528A>T
c.1487T>A (p.Met496Lys)
4g.47937233T>ACA356826380CNGA1,NIPAL1c.1249A>T (p.Met417Leu)
c.1261A>T (p.Met421Leu)
c.1468A>T (p.Met490Leu)
n.479-21791T>A
n.563+22529T>A
c.1486A>T (p.Met496Leu)
4g.47937233T>CCA356826381CNGA1,NIPAL1c.1249A>G (p.Met417Val)
c.1261A>G (p.Met421Val)
c.1468A>G (p.Met490Val)
n.479-21791T>C
n.563+22529T>C
c.1486A>G (p.Met496Val)
4g.47937233T>GCA356826383CNGA1,NIPAL1c.1249A>C (p.Met417Leu)
c.1261A>C (p.Met421Leu)
c.1468A>C (p.Met490Leu)
n.479-21791T>G
n.563+22529T>G
c.1486A>C (p.Met496Leu)
 gnomAD v4
4g.47937234A=CA1455551888CNGA1,NIPAL1c.1248T= (p.Tyr416=)
c.1260T= (p.Tyr420=)
c.1467T= (p.Tyr489=)
n.479-21790A=
n.563+22530A=
c.1485T= (p.Tyr495=)
4g.47937234A>CCA356826385CNGA1,NIPAL1c.1248T>G (p.Tyr416Ter)
c.1260T>G (p.Tyr420Ter)
c.1467T>G (p.Tyr489Ter)
n.479-21790A>C
n.563+22530A>C
c.1485T>G (p.Tyr495Ter)
4g.47937234A>GCA439404171CNGA1,NIPAL1c.1248T>C (p.Tyr416=)
c.1260T>C (p.Tyr420=)
c.1467T>C (p.Tyr489=)
n.479-21790A>G
n.563+22530A>G
c.1485T>C (p.Tyr495=)
 ClinVar dbSNP gnomAD v4
4g.47937234A>TCA356826387CNGA1,NIPAL1c.1248T>A (p.Tyr416Ter)
c.1260T>A (p.Tyr420Ter)
c.1467T>A (p.Tyr489Ter)
n.479-21790A>T
n.563+22530A>T
c.1485T>A (p.Tyr495Ter)
4g.47937235T>ACA356826390CNGA1,NIPAL1c.1247A>T (p.Tyr416Phe)
c.1259A>T (p.Tyr420Phe)
c.1466A>T (p.Tyr489Phe)
n.479-21789T>A
n.563+22531T>A
c.1484A>T (p.Tyr495Phe)
4g.47937235T>CCA356826393CNGA1,NIPAL1c.1247A>G (p.Tyr416Cys)
c.1259A>G (p.Tyr420Cys)
c.1466A>G (p.Tyr489Cys)
n.479-21789T>C
n.563+22531T>C
c.1484A>G (p.Tyr495Cys)
4g.47937235T>GCA356826395CNGA1,NIPAL1c.1247A>C (p.Tyr416Ser)
c.1259A>C (p.Tyr420Ser)
c.1466A>C (p.Tyr489Ser)
n.479-21789T>G
n.563+22531T>G
c.1484A>C (p.Tyr495Ser)
4g.47937236A=CA1455551889CNGA1,NIPAL1c.1246T= (p.Tyr416=)
c.1258T= (p.Tyr420=)
c.1465T= (p.Tyr489=)
n.479-21788A=
n.563+22532A=
c.1483T= (p.Tyr495=)
4g.47937236A>CCA356826401CNGA1,NIPAL1c.1246T>G (p.Tyr416Asp)
c.1258T>G (p.Tyr420Asp)
c.1465T>G (p.Tyr489Asp)
n.479-21788A>C
n.563+22532A>C
c.1483T>G (p.Tyr495Asp)
4g.47937236A>GCA356826398CNGA1,NIPAL1c.1246T>C (p.Tyr416His)
c.1258T>C (p.Tyr420His)
c.1465T>C (p.Tyr489His)
n.479-21788A>G
n.563+22532A>G
c.1483T>C (p.Tyr495His)
 dbSNP
4g.47937236A>TCA356826400CNGA1,NIPAL1c.1246T>A (p.Tyr416Asn)
c.1258T>A (p.Tyr420Asn)
c.1465T>A (p.Tyr489Asn)
n.479-21788A>T
n.563+22532A>T
c.1483T>A (p.Tyr495Asn)
4g.47937237T>ACA356826404CNGA1,NIPAL1c.1245A>T (p.Gln415His)
c.1257A>T (p.Gln419His)
c.1464A>T (p.Gln488His)
n.479-21787T>A
n.563+22533T>A
c.1482A>T (p.Gln494His)
4g.47937237T>CCA439404173CNGA1,NIPAL1c.1245A>G (p.Gln415=)
c.1257A>G (p.Gln419=)
c.1464A>G (p.Gln488=)
n.479-21787T>C
n.563+22533T>C
c.1482A>G (p.Gln494=)
4g.47937237T>GCA356826406CNGA1,NIPAL1c.1245A>C (p.Gln415His)
c.1257A>C (p.Gln419His)
c.1464A>C (p.Gln488His)
n.479-21787T>G
n.563+22533T>G
c.1482A>C (p.Gln494His)
4g.47937238T>ACA356826408CNGA1,NIPAL1c.1244A>T (p.Gln415Leu)
c.1256A>T (p.Gln419Leu)
c.1463A>T (p.Gln488Leu)
n.479-21786T>A
n.563+22534T>A
c.1481A>T (p.Gln494Leu)
4g.47937238T>CCA356826410CNGA1,NIPAL1c.1244A>G (p.Gln415Arg)
c.1256A>G (p.Gln419Arg)
c.1463A>G (p.Gln488Arg)
n.479-21786T>C
n.563+22534T>C
c.1481A>G (p.Gln494Arg)
4g.47937238T>GCA356826412CNGA1,NIPAL1c.1244A>C (p.Gln415Pro)
c.1256A>C (p.Gln419Pro)
c.1463A>C (p.Gln488Pro)
n.479-21786T>G
n.563+22534T>G
c.1481A>C (p.Gln494Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47937238T=CA1455551890CNGA1,NIPAL1c.1244A= (p.Gln415=)
c.1256A= (p.Gln419=)
c.1463A= (p.Gln488=)
n.479-21786T=
n.563+22534T=
c.1481A= (p.Gln494=)
4g.47937239G>ACA356826415CNGA1,NIPAL1c.1243C>T (p.Gln415Ter)
c.1255C>T (p.Gln419Ter)
c.1462C>T (p.Gln488Ter)
n.479-21785G>A
n.563+22535G>A
c.1480C>T (p.Gln494Ter)
 gnomAD v4
4g.47937239G>CCA356826417CNGA1,NIPAL1c.1243C>G (p.Gln415Glu)
c.1255C>G (p.Gln419Glu)
c.1462C>G (p.Gln488Glu)
n.479-21785G>C
n.563+22535G>C
c.1480C>G (p.Gln494Glu)
4g.47937239G=CA1455551891CNGA1,NIPAL1c.1243C= (p.Gln415=)
c.1255C= (p.Gln419=)
c.1462C= (p.Gln488=)
n.479-21785G=
n.563+22535G=
c.1480C= (p.Gln494=)
4g.47937239G>TCA356826419CNGA1,NIPAL1c.1243C>A (p.Gln415Lys)
c.1255C>A (p.Gln419Lys)
c.1462C>A (p.Gln488Lys)
n.479-21785G>T
n.563+22535G>T
c.1480C>A (p.Gln494Lys)
 dbSNP gnomAD v3 gnomAD v4
4g.47937240C>ACA356826422CNGA1,NIPAL1c.1242G>T (p.Lys414Asn)
c.1254G>T (p.Lys418Asn)
c.1461G>T (p.Lys487Asn)
n.479-21784C>A
n.563+22536C>A
c.1479G>T (p.Lys493Asn)
4g.47937240C>GCA356826424CNGA1,NIPAL1c.1242G>C (p.Lys414Asn)
c.1254G>C (p.Lys418Asn)
c.1461G>C (p.Lys487Asn)
n.479-21784C>G
n.563+22536C>G
c.1479G>C (p.Lys493Asn)
4g.47937240C>TCA439404177CNGA1,NIPAL1c.1242G>A (p.Lys414=)
c.1254G>A (p.Lys418=)
c.1461G>A (p.Lys487=)
n.479-21784C>T
n.563+22536C>T
c.1479G>A (p.Lys493=)
4g.47937241T>ACA356826429CNGA1,NIPAL1c.1241A>T (p.Lys414Met)
c.1253A>T (p.Lys418Met)
c.1460A>T (p.Lys487Met)
n.479-21783T>A
n.563+22537T>A
c.1478A>T (p.Lys493Met)
4g.47937241T>CCA356826432CNGA1,NIPAL1c.1241A>G (p.Lys414Arg)
c.1253A>G (p.Lys418Arg)
c.1460A>G (p.Lys487Arg)
n.479-21783T>C
n.563+22537T>C
c.1478A>G (p.Lys493Arg)
 dbSNP
4g.47937241T>GCA356826428CNGA1,NIPAL1c.1241A>C (p.Lys414Thr)
c.1253A>C (p.Lys418Thr)
c.1460A>C (p.Lys487Thr)
n.479-21783T>G
n.563+22537T>G
c.1478A>C (p.Lys493Thr)
4g.47937241T=CA1455551892CNGA1,NIPAL1c.1241A= (p.Lys414=)
c.1253A= (p.Lys418=)
c.1460A= (p.Lys487=)
n.479-21783T=
n.563+22537T=
c.1478A= (p.Lys493=)
4g.47937242T>ACA356826434CNGA1,NIPAL1c.1240A>T (p.Lys414Ter)
c.1252A>T (p.Lys418Ter)
c.1459A>T (p.Lys487Ter)
n.479-21782T>A
n.563+22538T>A
c.1477A>T (p.Lys493Ter)
4g.47937242T>CCA356826436CNGA1,NIPAL1c.1240A>G (p.Lys414Glu)
c.1252A>G (p.Lys418Glu)
c.1459A>G (p.Lys487Glu)
n.479-21782T>C
n.563+22538T>C
c.1477A>G (p.Lys493Glu)
 dbSNP gnomAD v2 gnomAD v4
4g.47937242T>GCA356826438CNGA1,NIPAL1c.1240A>C (p.Lys414Gln)
c.1252A>C (p.Lys418Gln)
c.1459A>C (p.Lys487Gln)
n.479-21782T>G
n.563+22538T>G
c.1477A>C (p.Lys493Gln)
4g.47937242T=CA1455551893CNGA1,NIPAL1c.1240A= (p.Lys414=)
c.1252A= (p.Lys418=)
c.1459A= (p.Lys487=)
n.479-21782T=
n.563+22538T=
c.1477A= (p.Lys493=)
4g.47937243G>ACA439404178CNGA1,NIPAL1c.1239C>T (p.Ile413=)
c.1251C>T (p.Ile417=)
c.1458C>T (p.Ile486=)
n.479-21781G>A
n.563+22539G>A
c.1476C>T (p.Ile492=)
4g.47937243G>CCA356826442CNGA1,NIPAL1c.1239C>G (p.Ile413Met)
c.1251C>G (p.Ile417Met)
c.1458C>G (p.Ile486Met)
n.479-21781G>C
n.563+22539G>C
c.1476C>G (p.Ile492Met)
 dbSNP
4g.47937243G=CA1455551894CNGA1,NIPAL1c.1239C= (p.Ile413=)
c.1251C= (p.Ile417=)
c.1458C= (p.Ile486=)
n.479-21781G=
n.563+22539G=
c.1476C= (p.Ile492=)
4g.47937243G>TCA439404179CNGA1,NIPAL1c.1239C>A (p.Ile413=)
c.1251C>A (p.Ile417=)
c.1458C>A (p.Ile486=)
n.479-21781G>T
n.563+22539G>T
c.1476C>A (p.Ile492=)
 gnomAD v4
4g.47937244A>CCA356826445CNGA1,NIPAL1c.1238T>G (p.Ile413Ser)
c.1250T>G (p.Ile417Ser)
c.1457T>G (p.Ile486Ser)
n.479-21780A>C
n.563+22540A>C
c.1475T>G (p.Ile492Ser)
4g.47937244A>GCA356826446CNGA1,NIPAL1c.1238T>C (p.Ile413Thr)
c.1250T>C (p.Ile417Thr)
c.1457T>C (p.Ile486Thr)
n.479-21780A>G
n.563+22540A>G
c.1475T>C (p.Ile492Thr)
4g.47937244A>TCA356826447CNGA1,NIPAL1c.1238T>A (p.Ile413Asn)
c.1250T>A (p.Ile417Asn)
c.1457T>A (p.Ile486Asn)
n.479-21780A>T
n.563+22540A>T
c.1475T>A (p.Ile492Asn)
4g.47937245T>ACA356826449CNGA1,NIPAL1c.1237A>T (p.Ile413Phe)
c.1249A>T (p.Ile417Phe)
c.1456A>T (p.Ile486Phe)
n.479-21779T>A
n.563+22541T>A
c.1474A>T (p.Ile492Phe)
 gnomAD v4
4g.47937245T>CCA2911108CNGA1,NIPAL1c.1237A>G (p.Ile413Val)
c.1249A>G (p.Ile417Val)
c.1456A>G (p.Ile486Val)
n.479-21779T>C
n.563+22541T>C
c.1474A>G (p.Ile492Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937245T>GCA356826452CNGA1,NIPAL1c.1237A>C (p.Ile413Leu)
c.1249A>C (p.Ile417Leu)
c.1456A>C (p.Ile486Leu)
n.479-21779T>G
n.563+22541T>G
c.1474A>C (p.Ile492Leu)
4g.47937245T=CA1455551895CNGA1,NIPAL1c.1237A= (p.Ile413=)
c.1249A= (p.Ile417=)
c.1456A= (p.Ile486=)
n.479-21779T=
n.563+22541T=
c.1474A= (p.Ile492=)
4g.47937246A>CCA439404186CNGA1,NIPAL1c.1236T>G (p.Ala412=)
c.1248T>G (p.Ala416=)
c.1455T>G (p.Ala485=)
n.479-21778A>C
n.563+22542A>C
c.1473T>G (p.Ala491=)
4g.47937246A>GCA439404185CNGA1,NIPAL1c.1236T>C (p.Ala412=)
c.1248T>C (p.Ala416=)
c.1455T>C (p.Ala485=)
n.479-21778A>G
n.563+22542A>G
c.1473T>C (p.Ala491=)
4g.47937246A>TCA439404184CNGA1,NIPAL1c.1236T>A (p.Ala412=)
c.1248T>A (p.Ala416=)
c.1455T>A (p.Ala485=)
n.479-21778A>T
n.563+22542A>T
c.1473T>A (p.Ala491=)
4g.47937247G>ACA356826456CNGA1,NIPAL1c.1235C>T (p.Ala412Val)
c.1247C>T (p.Ala416Val)
c.1454C>T (p.Ala485Val)
n.479-21777G>A
n.563+22543G>A
c.1472C>T (p.Ala491Val)
 gnomAD v4
4g.47937247G>CCA356826457CNGA1,NIPAL1c.1235C>G (p.Ala412Gly)
c.1247C>G (p.Ala416Gly)
c.1454C>G (p.Ala485Gly)
n.479-21777G>C
n.563+22543G>C
c.1472C>G (p.Ala491Gly)
4g.47937247G>TCA356826459CNGA1,NIPAL1c.1235C>A (p.Ala412Asp)
c.1247C>A (p.Ala416Asp)
c.1454C>A (p.Ala485Asp)
n.479-21777G>T
n.563+22543G>T
c.1472C>A (p.Ala491Asp)
4g.47937248C>ACA356826466CNGA1,NIPAL1c.1234G>T (p.Ala412Ser)
c.1246G>T (p.Ala416Ser)
c.1453G>T (p.Ala485Ser)
n.479-21776C>A
n.563+22544C>A
c.1471G>T (p.Ala491Ser)
4g.47937248C=CA1455551896CNGA1,NIPAL1c.1234G= (p.Ala412=)
c.1246G= (p.Ala416=)
c.1453G= (p.Ala485=)
n.479-21776C=
n.563+22544C=
c.1471G= (p.Ala491=)
4g.47937248C>GCA356826463CNGA1,NIPAL1c.1234G>C (p.Ala412Pro)
c.1246G>C (p.Ala416Pro)
c.1453G>C (p.Ala485Pro)
n.479-21776C>G
n.563+22544C>G
c.1471G>C (p.Ala491Pro)
4g.47937248C>TCA356826462CNGA1,NIPAL1c.1234G>A (p.Ala412Thr)
c.1246G>A (p.Ala416Thr)
c.1453G>A (p.Ala485Thr)
n.479-21776C>T
n.563+22544C>T
c.1471G>A (p.Ala491Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47937249A>CCA356826468CNGA1,NIPAL1c.1233T>G (p.Asp411Glu)
c.1245T>G (p.Asp415Glu)
c.1452T>G (p.Asp484Glu)
n.479-21775A>C
n.563+22545A>C
c.1470T>G (p.Asp490Glu)
4g.47937249A>GCA439404189CNGA1,NIPAL1c.1233T>C (p.Asp411=)
c.1245T>C (p.Asp415=)
c.1452T>C (p.Asp484=)
n.479-21775A>G
n.563+22545A>G
c.1470T>C (p.Asp490=)
 gnomAD v4
4g.47937249A>TCA356826470CNGA1,NIPAL1c.1233T>A (p.Asp411Glu)
c.1245T>A (p.Asp415Glu)
c.1452T>A (p.Asp484Glu)
n.479-21775A>T
n.563+22545A>T
c.1470T>A (p.Asp490Glu)
 gnomAD v4
4g.47937250T>ACA356826473CNGA1,NIPAL1c.1232A>T (p.Asp411Val)
c.1244A>T (p.Asp415Val)
c.1451A>T (p.Asp484Val)
n.479-21774T>A
n.563+22546T>A
c.1469A>T (p.Asp490Val)
4g.47937250T>CCA356826475CNGA1,NIPAL1c.1232A>G (p.Asp411Gly)
c.1244A>G (p.Asp415Gly)
c.1451A>G (p.Asp484Gly)
n.479-21774T>C
n.563+22546T>C
c.1469A>G (p.Asp490Gly)
4g.47937250T>GCA356826477CNGA1,NIPAL1c.1232A>C (p.Asp411Ala)
c.1244A>C (p.Asp415Ala)
c.1451A>C (p.Asp484Ala)
n.479-21774T>G
n.563+22546T>G
c.1469A>C (p.Asp490Ala)
4g.47937251C>ACA356826480CNGA1,NIPAL1c.1231G>T (p.Asp411Tyr)
c.1243G>T (p.Asp415Tyr)
c.1450G>T (p.Asp484Tyr)
n.479-21773C>A
n.563+22547C>A
c.1468G>T (p.Asp490Tyr)
4g.47937251C>GCA356826482CNGA1,NIPAL1c.1231G>C (p.Asp411His)
c.1243G>C (p.Asp415His)
c.1450G>C (p.Asp484His)
n.479-21773C>G
n.563+22547C>G
c.1468G>C (p.Asp490His)
4g.47937251C>TCA356826483CNGA1,NIPAL1c.1231G>A (p.Asp411Asn)
c.1243G>A (p.Asp415Asn)
c.1450G>A (p.Asp484Asn)
n.479-21773C>T
n.563+22547C>T
c.1468G>A (p.Asp490Asn)
4g.47937252A>CCA356826487CNGA1,NIPAL1c.1230T>G (p.Ile410Met)
c.1242T>G (p.Ile414Met)
c.1449T>G (p.Ile483Met)
n.479-21772A>C
n.563+22548A>C
c.1467T>G (p.Ile489Met)
4g.47937252A>GCA439404190CNGA1,NIPAL1c.1230T>C (p.Ile410=)
c.1242T>C (p.Ile414=)
c.1449T>C (p.Ile483=)
n.479-21772A>G
n.563+22548A>G
c.1467T>C (p.Ile489=)
4g.47937252A>TCA439404191CNGA1,NIPAL1c.1230T>A (p.Ile410=)
c.1242T>A (p.Ile414=)
c.1449T>A (p.Ile483=)
n.479-21772A>T
n.563+22548A>T
c.1467T>A (p.Ile489=)
4g.47937253delCA2670552353CNGA1,NIPAL1c.1230del (p.Ile410MetfsTer13)
c.1242del (p.Ile414MetfsTer13)
c.1449del (p.Ile483MetfsTer13)
n.479-21771del
n.563+22549del
c.1467del (p.Ile489MetfsTer13)
 gnomAD v4
4g.47937253A=CA1455551897CNGA1,NIPAL1c.1229T= (p.Ile410=)
c.1241T= (p.Ile414=)
c.1448T= (p.Ile483=)
n.479-21771A=
n.563+22549A=
c.1466T= (p.Ile489=)
4g.47937253A>CCA356826490CNGA1,NIPAL1c.1229T>G (p.Ile410Ser)
c.1241T>G (p.Ile414Ser)
c.1448T>G (p.Ile483Ser)
n.479-21771A>C
n.563+22549A>C
c.1466T>G (p.Ile489Ser)
4g.47937253A>GCA356826491CNGA1,NIPAL1c.1229T>C (p.Ile410Thr)
c.1241T>C (p.Ile414Thr)
c.1448T>C (p.Ile483Thr)
n.479-21771A>G
n.563+22549A>G
c.1466T>C (p.Ile489Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47937253A>TCA356826494CNGA1,NIPAL1c.1229T>A (p.Ile410Asn)
c.1241T>A (p.Ile414Asn)
c.1448T>A (p.Ile483Asn)
n.479-21771A>T
n.563+22549A>T
c.1466T>A (p.Ile489Asn)
4g.47937254T>ACA356826501CNGA1,NIPAL1c.1228A>T (p.Ile410Phe)
c.1240A>T (p.Ile414Phe)
c.1447A>T (p.Ile483Phe)
n.479-21770T>A
n.563+22550T>A
c.1465A>T (p.Ile489Phe)
4g.47937254T>CCA2911109CNGA1,NIPAL1c.1228A>G (p.Ile410Val)
c.1240A>G (p.Ile414Val)
c.1447A>G (p.Ile483Val)
n.479-21770T>C
n.563+22550T>C
c.1465A>G (p.Ile489Val)
 dbSNP ExAC gnomAD v2
4g.47937254T>GCA356826497CNGA1,NIPAL1c.1228A>C (p.Ile410Leu)
c.1240A>C (p.Ile414Leu)
c.1447A>C (p.Ile483Leu)
n.479-21770T>G
n.563+22550T>G
c.1465A>C (p.Ile489Leu)
4g.47937254T=CA1455551898CNGA1,NIPAL1c.1228A= (p.Ile410=)
c.1240A= (p.Ile414=)
c.1447A= (p.Ile483=)
n.479-21770T=
n.563+22550T=
c.1465A= (p.Ile489=)
4g.47937255delCA2538638686CNGA1,NIPAL1c.1228del (p.Ile410LeufsTer13)
c.1240del (p.Ile414LeufsTer13)
c.1447del (p.Ile483LeufsTer13)
n.479-21769del
n.563+22551del
c.1465del (p.Ile489LeufsTer13)
4g.47937255T>ACA356826504CNGA1,NIPAL1c.1227A>T (p.Arg409Ser)
c.1239A>T (p.Arg413Ser)
c.1446A>T (p.Arg482Ser)
n.479-21769T>A
n.563+22551T>A
c.1464A>T (p.Arg488Ser)
4g.47937255T>CCA439404192CNGA1,NIPAL1c.1227A>G (p.Arg409=)
c.1239A>G (p.Arg413=)
c.1446A>G (p.Arg482=)
n.479-21769T>C
n.563+22551T>C
c.1464A>G (p.Arg488=)
4g.47937255T>GCA356826505CNGA1,NIPAL1c.1227A>C (p.Arg409Ser)
c.1239A>C (p.Arg413Ser)
c.1446A>C (p.Arg482Ser)
n.479-21769T>G
n.563+22551T>G
c.1464A>C (p.Arg488Ser)
4g.47937256C>ACA356826509CNGA1,NIPAL1c.1226G>T (p.Arg409Ile)
c.1238G>T (p.Arg413Ile)
c.1445G>T (p.Arg482Ile)
n.479-21768C>A
n.563+22552C>A
c.1463G>T (p.Arg488Ile)
 dbSNP gnomAD v4 COSMIC COSMIC
4g.47937256C=CA1455551899CNGA1,NIPAL1c.1226G= (p.Arg409=)
c.1238G= (p.Arg413=)
c.1445G= (p.Arg482=)
n.479-21768C=
n.563+22552C=
c.1463G= (p.Arg488=)
4g.47937256C>GCA356826513CNGA1,NIPAL1c.1226G>C (p.Arg409Thr)
c.1238G>C (p.Arg413Thr)
c.1445G>C (p.Arg482Thr)
n.479-21768C>G
n.563+22552C>G
c.1463G>C (p.Arg488Thr)
4g.47937256C>TCA356826510CNGA1,NIPAL1c.1226G>A (p.Arg409Lys)
c.1238G>A (p.Arg413Lys)
c.1445G>A (p.Arg482Lys)
n.479-21768C>T
n.563+22552C>T
c.1463G>A (p.Arg488Lys)
 dbSNP gnomAD v4
4g.47937257T>ACA356826516CNGA1,NIPAL1c.1225A>T (p.Arg409Ter)
c.1237A>T (p.Arg413Ter)
c.1444A>T (p.Arg482Ter)
n.479-21767T>A
n.563+22553T>A
c.1462A>T (p.Arg488Ter)
4g.47937257T>CCA356826518CNGA1,NIPAL1c.1225A>G (p.Arg409Gly)
c.1237A>G (p.Arg413Gly)
c.1444A>G (p.Arg482Gly)
n.479-21767T>C
n.563+22553T>C
c.1462A>G (p.Arg488Gly)
4g.47937257T>GCA439404196CNGA1,NIPAL1c.1225A>C (p.Arg409=)
c.1237A>C (p.Arg413=)
c.1444A>C (p.Arg482=)
n.479-21767T>G
n.563+22553T>G
c.1462A>C (p.Arg488=)
4g.47937258T>ACA439404197CNGA1,NIPAL1c.1224A>T (p.Ala408=)
c.1236A>T (p.Ala412=)
c.1443A>T (p.Ala481=)
n.479-21766T>A
n.563+22554T>A
c.1461A>T (p.Ala487=)
4g.47937258T>CCA439404198CNGA1,NIPAL1c.1224A>G (p.Ala408=)
c.1236A>G (p.Ala412=)
c.1443A>G (p.Ala481=)
n.479-21766T>C
n.563+22554T>C
c.1461A>G (p.Ala487=)
4g.47937258T>GCA439404200CNGA1,NIPAL1c.1224A>C (p.Ala408=)
c.1236A>C (p.Ala412=)
c.1443A>C (p.Ala481=)
n.479-21766T>G
n.563+22554T>G
c.1461A>C (p.Ala487=)
4g.47937259G>ACA96688850CNGA1,NIPAL1c.1223C>T (p.Ala408Val)
c.1235C>T (p.Ala412Val)
c.1442C>T (p.Ala481Val)
n.479-21765G>A
n.563+22555G>A
c.1460C>T (p.Ala487Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937259G>CCA356826522CNGA1,NIPAL1c.1223C>G (p.Ala408Gly)
c.1235C>G (p.Ala412Gly)
c.1442C>G (p.Ala481Gly)
n.479-21765G>C
n.563+22555G>C
c.1460C>G (p.Ala487Gly)
 dbSNP
4g.47937259G=CA1455551900CNGA1,NIPAL1c.1223C= (p.Ala408=)
c.1235C= (p.Ala412=)
c.1442C= (p.Ala481=)
n.479-21765G=
n.563+22555G=
c.1460C= (p.Ala487=)
4g.47937259G>TCA356826524CNGA1,NIPAL1c.1223C>A (p.Ala408Glu)
c.1235C>A (p.Ala412Glu)
c.1442C>A (p.Ala481Glu)
n.479-21765G>T
n.563+22555G>T
c.1460C>A (p.Ala487Glu)
4g.47937259dupCA2512017241CNGA1,NIPAL1c.1223dup (p.Arg409LysfsTer3)
c.1235dup (p.Arg413LysfsTer3)
c.1442dup (p.Arg482LysfsTer3)
n.479-21765dup
n.563+22555dup
c.1460dup (p.Arg488LysfsTer3)
4g.47937260C>ACA356826528CNGA1,NIPAL1c.1222G>T (p.Ala408Ser)
c.1234G>T (p.Ala412Ser)
c.1441G>T (p.Ala481Ser)
n.479-21764C>A
n.563+22556C>A
c.1459G>T (p.Ala487Ser)
4g.47937260C>GCA356826530CNGA1,NIPAL1c.1222G>C (p.Ala408Pro)
c.1234G>C (p.Ala412Pro)
c.1441G>C (p.Ala481Pro)
n.479-21764C>G
n.563+22556C>G
c.1459G>C (p.Ala487Pro)
 ClinVar
4g.47937260C>TCA356826532CNGA1,NIPAL1c.1222G>A (p.Ala408Thr)
c.1234G>A (p.Ala412Thr)
c.1441G>A (p.Ala481Thr)
n.479-21764C>T
n.563+22556C>T
c.1459G>A (p.Ala487Thr)
4g.47937261T>ACA356826535CNGA1,NIPAL1c.1221A>T (p.Gln407His)
c.1233A>T (p.Gln411His)
c.1440A>T (p.Gln480His)
n.479-21763T>A
n.563+22557T>A
c.1458A>T (p.Gln486His)
4g.47937261T>CCA439404204CNGA1,NIPAL1c.1221A>G (p.Gln407=)
c.1233A>G (p.Gln411=)
c.1440A>G (p.Gln480=)
n.479-21763T>C
n.563+22557T>C
c.1458A>G (p.Gln486=)
4g.47937261T>GCA356826538CNGA1,NIPAL1c.1221A>C (p.Gln407His)
c.1233A>C (p.Gln411His)
c.1440A>C (p.Gln480His)
n.479-21763T>G
n.563+22557T>G
c.1458A>C (p.Gln486His)
4g.47937262T>ACA356826540CNGA1,NIPAL1c.1220A>T (p.Gln407Leu)
c.1232A>T (p.Gln411Leu)
c.1439A>T (p.Gln480Leu)
n.479-21762T>A
n.563+22558T>A
c.1457A>T (p.Gln486Leu)
4g.47937262T>CCA2911110CNGA1,NIPAL1c.1220A>G (p.Gln407Arg)
c.1232A>G (p.Gln411Arg)
c.1439A>G (p.Gln480Arg)
n.479-21762T>C
n.563+22558T>C
c.1457A>G (p.Gln486Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937262T>GCA356826544CNGA1,NIPAL1c.1220A>C (p.Gln407Pro)
c.1232A>C (p.Gln411Pro)
c.1439A>C (p.Gln480Pro)
n.479-21762T>G
n.563+22558T>G
c.1457A>C (p.Gln486Pro)
4g.47937262T=CA1455551901CNGA1,NIPAL1c.1220A= (p.Gln407=)
c.1232A= (p.Gln411=)
c.1439A= (p.Gln480=)
n.479-21762T=
n.563+22558T=
c.1457A= (p.Gln486=)
4g.47937263G>ACA356826547CNGA1,NIPAL1c.1219C>T (p.Gln407Ter)
c.1231C>T (p.Gln411Ter)
c.1438C>T (p.Gln480Ter)
n.479-21761G>A
n.563+22559G>A
c.1456C>T (p.Gln486Ter)
4g.47937263G>CCA356826549CNGA1,NIPAL1c.1219C>G (p.Gln407Glu)
c.1231C>G (p.Gln411Glu)
c.1438C>G (p.Gln480Glu)
n.479-21761G>C
n.563+22559G>C
c.1456C>G (p.Gln486Glu)
4g.47937263G>TCA356826550CNGA1,NIPAL1c.1219C>A (p.Gln407Lys)
c.1231C>A (p.Gln411Lys)
c.1438C>A (p.Gln480Lys)
n.479-21761G>T
n.563+22559G>T
c.1456C>A (p.Gln486Lys)
4g.47937264A=CA1455551902CNGA1,NIPAL1c.1218T= (p.Phe406=)
c.1230T= (p.Phe410=)
c.1437T= (p.Phe479=)
n.479-21760A=
n.563+22560A=
c.1455T= (p.Phe485=)
4g.47937264A>CCA356826554CNGA1,NIPAL1c.1218T>G (p.Phe406Leu)
c.1230T>G (p.Phe410Leu)
c.1437T>G (p.Phe479Leu)
n.479-21760A>C
n.563+22560A>C
c.1455T>G (p.Phe485Leu)
 dbSNP gnomAD v4
4g.47937264A>GCA439404206CNGA1,NIPAL1c.1218T>C (p.Phe406=)
c.1230T>C (p.Phe410=)
c.1437T>C (p.Phe479=)
n.479-21760A>G
n.563+22560A>G
c.1455T>C (p.Phe485=)
4g.47937264A>TCA356826553CNGA1,NIPAL1c.1218T>A (p.Phe406Leu)
c.1230T>A (p.Phe410Leu)
c.1437T>A (p.Phe479Leu)
n.479-21760A>T
n.563+22560A>T
c.1455T>A (p.Phe485Leu)
4g.47937265A>CCA356826558CNGA1,NIPAL1c.1217T>G (p.Phe406Cys)
c.1229T>G (p.Phe410Cys)
c.1436T>G (p.Phe479Cys)
n.479-21759A>C
n.563+22561A>C
c.1454T>G (p.Phe485Cys)
4g.47937265A>GCA356826559CNGA1,NIPAL1c.1217T>C (p.Phe406Ser)
c.1229T>C (p.Phe410Ser)
c.1436T>C (p.Phe479Ser)
n.479-21759A>G
n.563+22561A>G
c.1454T>C (p.Phe485Ser)
4g.47937265A>TCA356826561CNGA1,NIPAL1c.1217T>A (p.Phe406Tyr)
c.1229T>A (p.Phe410Tyr)
c.1436T>A (p.Phe479Tyr)
n.479-21759A>T
n.563+22561A>T
c.1454T>A (p.Phe485Tyr)
4g.47937266A>CCA356826565CNGA1,NIPAL1c.1216T>G (p.Phe406Val)
c.1228T>G (p.Phe410Val)
c.1435T>G (p.Phe479Val)
n.479-21758A>C
n.563+22562A>C
c.1453T>G (p.Phe485Val)
4g.47937266A>GCA356826567CNGA1,NIPAL1c.1216T>C (p.Phe406Leu)
c.1228T>C (p.Phe410Leu)
c.1435T>C (p.Phe479Leu)
n.479-21758A>G
n.563+22562A>G
c.1453T>C (p.Phe485Leu)
4g.47937266A>TCA356826568CNGA1,NIPAL1c.1216T>A (p.Phe406Ile)
c.1228T>A (p.Phe410Ile)
c.1435T>A (p.Phe479Ile)
n.479-21758A>T
n.563+22562A>T
c.1453T>A (p.Phe485Ile)
 gnomAD v4
4g.47937267T>ACA356826573CNGA1,NIPAL1c.1215A>T (p.Glu405Asp)
c.1227A>T (p.Glu409Asp)
c.1434A>T (p.Glu478Asp)
n.479-21757T>A
n.563+22563T>A
c.1452A>T (p.Glu484Asp)
4g.47937267T>CCA439404208CNGA1,NIPAL1c.1215A>G (p.Glu405=)
c.1227A>G (p.Glu409=)
c.1434A>G (p.Glu478=)
n.479-21757T>C
n.563+22563T>C
c.1452A>G (p.Glu484=)
4g.47937267T>GCA356826572CNGA1,NIPAL1c.1215A>C (p.Glu405Asp)
c.1227A>C (p.Glu409Asp)
c.1434A>C (p.Glu478Asp)
n.479-21757T>G
n.563+22563T>G
c.1452A>C (p.Glu484Asp)
4g.47937267_47937272delinsTTCTGCCA1455551903CNGA1,NIPAL1c.1210_1215delinsGCAGAA (p.Ala404=)
c.1222_1227delinsGCAGAA (p.Ala408=)
c.1429_1434delinsGCAGAA (p.Ala477=)
n.479-21757_479-21752delinsTTCTGC
n.563+22563_563+22568delinsTTCTGC
c.1447_1452delinsGCAGAA (p.Ala483=)
4g.47937268T>ACA356826576CNGA1,NIPAL1c.1214A>T (p.Glu405Val)
c.1226A>T (p.Glu409Val)
c.1433A>T (p.Glu478Val)
n.479-21756T>A
n.563+22564T>A
c.1451A>T (p.Glu484Val)
 dbSNP gnomAD v2 gnomAD v4
4g.47937268T>CCA356826577CNGA1,NIPAL1c.1214A>G (p.Glu405Gly)
c.1226A>G (p.Glu409Gly)
c.1433A>G (p.Glu478Gly)
n.479-21756T>C
n.563+22564T>C
c.1451A>G (p.Glu484Gly)
4g.47937268T>GCA356826580CNGA1,NIPAL1c.1214A>C (p.Glu405Ala)
c.1226A>C (p.Glu409Ala)
c.1433A>C (p.Glu478Ala)
n.479-21756T>G
n.563+22564T>G
c.1451A>C (p.Glu484Ala)
4g.47937268T=CA1455551904CNGA1,NIPAL1c.1214A= (p.Glu405=)
c.1226A= (p.Glu409=)
c.1433A= (p.Glu478=)
n.479-21756T=
n.563+22564T=
c.1451A= (p.Glu484=)
4g.47937272_47937276delCA1139658482CNGA1,NIPAL1c.1210_1214del (p.Ala404IlefsTer6)
c.1222_1226del (p.Ala408IlefsTer6)
c.1429_1433del (p.Ala477IlefsTer6)
n.479-21752_479-21748del
n.563+22568_563+22572del
c.1447_1451del (p.Ala483IlefsTer6)
 ClinVar dbSNP
4g.47937269C>ACA356826583CNGA1,NIPAL1c.1213G>T (p.Glu405Ter)
c.1225G>T (p.Glu409Ter)
c.1432G>T (p.Glu478Ter)
n.479-21755C>A
n.563+22565C>A
c.1450G>T (p.Glu484Ter)
4g.47937269C>GCA356826585CNGA1,NIPAL1c.1213G>C (p.Glu405Gln)
c.1225G>C (p.Glu409Gln)
c.1432G>C (p.Glu478Gln)
n.479-21755C>G
n.563+22565C>G
c.1450G>C (p.Glu484Gln)
4g.47937269C>TCA356826587CNGA1,NIPAL1c.1213G>A (p.Glu405Lys)
c.1225G>A (p.Glu409Lys)
c.1432G>A (p.Glu478Lys)
n.479-21755C>T
n.563+22565C>T
c.1450G>A (p.Glu484Lys)
4g.47937270T>ACA439404210CNGA1,NIPAL1c.1212A>T (p.Ala404=)
c.1224A>T (p.Ala408=)
c.1431A>T (p.Ala477=)
n.479-21754T>A
n.563+22566T>A
c.1449A>T (p.Ala483=)
4g.47937270T>CCA439404211CNGA1,NIPAL1c.1212A>G (p.Ala404=)
c.1224A>G (p.Ala408=)
c.1431A>G (p.Ala477=)
n.479-21754T>C
n.563+22566T>C
c.1449A>G (p.Ala483=)
4g.47937270T>GCA439404212CNGA1,NIPAL1c.1212A>C (p.Ala404=)
c.1224A>C (p.Ala408=)
c.1431A>C (p.Ala477=)
n.479-21754T>G
n.563+22566T>G
c.1449A>C (p.Ala483=)
4g.47937271G>ACA356826593CNGA1,NIPAL1c.1211C>T (p.Ala404Val)
c.1223C>T (p.Ala408Val)
c.1430C>T (p.Ala477Val)
n.479-21753G>A
n.563+22567G>A
c.1448C>T (p.Ala483Val)
4g.47937271G>CCA356826590CNGA1,NIPAL1c.1211C>G (p.Ala404Gly)
c.1223C>G (p.Ala408Gly)
c.1430C>G (p.Ala477Gly)
n.479-21753G>C
n.563+22567G>C
c.1448C>G (p.Ala483Gly)
4g.47937271G=CA1455551905CNGA1,NIPAL1c.1211C= (p.Ala404=)
c.1223C= (p.Ala408=)
c.1430C= (p.Ala477=)
n.479-21753G=
n.563+22567G=
c.1448C= (p.Ala483=)
4g.47937271G>TCA356826591CNGA1,NIPAL1c.1211C>A (p.Ala404Glu)
c.1223C>A (p.Ala408Glu)
c.1430C>A (p.Ala477Glu)
n.479-21753G>T
n.563+22567G>T
c.1448C>A (p.Ala483Glu)
 dbSNP gnomAD v4 COSMIC COSMIC
4g.47937272C>ACA356826596CNGA1,NIPAL1c.1210G>T (p.Ala404Ser)
c.1222G>T (p.Ala408Ser)
c.1429G>T (p.Ala477Ser)
n.479-21752C>A
n.563+22568C>A
c.1447G>T (p.Ala483Ser)
4g.47937272C=CA1455551906CNGA1,NIPAL1c.1210G= (p.Ala404=)
c.1222G= (p.Ala408=)
c.1429G= (p.Ala477=)
n.479-21752C=
n.563+22568C=
c.1447G= (p.Ala483=)
4g.47937272C>GCA356826598CNGA1,NIPAL1c.1210G>C (p.Ala404Pro)
c.1222G>C (p.Ala408Pro)
c.1429G>C (p.Ala477Pro)
n.479-21752C>G
n.563+22568C>G
c.1447G>C (p.Ala483Pro)
4g.47937272C>TCA356826600CNGA1,NIPAL1c.1210G>A (p.Ala404Thr)
c.1222G>A (p.Ala408Thr)
c.1429G>A (p.Ala477Thr)
n.479-21752C>T
n.563+22568C>T
c.1447G>A (p.Ala483Thr)
 dbSNP
4g.47937273T>ACA356826603CNGA1,NIPAL1c.1209A>T (p.Arg403Ser)
c.1221A>T (p.Arg407Ser)
c.1428A>T (p.Arg476Ser)
n.479-21751T>A
n.563+22569T>A
c.1446A>T (p.Arg482Ser)
4g.47937273T>CCA439404288CNGA1,NIPAL1c.1209A>G (p.Arg403=)
c.1221A>G (p.Arg407=)
c.1428A>G (p.Arg476=)
n.479-21751T>C
n.563+22569T>C
c.1446A>G (p.Arg482=)
 gnomAD v4
4g.47937273T>GCA356826605CNGA1,NIPAL1c.1209A>C (p.Arg403Ser)
c.1221A>C (p.Arg407Ser)
c.1428A>C (p.Arg476Ser)
n.479-21751T>G
n.563+22569T>G
c.1446A>C (p.Arg482Ser)
4g.47937274C>ACA356826608CNGA1,NIPAL1c.1208G>T (p.Arg403Ile)
c.1220G>T (p.Arg407Ile)
c.1427G>T (p.Arg476Ile)
n.479-21750C>A
n.563+22570C>A
c.1445G>T (p.Arg482Ile)
4g.47937274C>GCA356826610CNGA1,NIPAL1c.1208G>C (p.Arg403Thr)
c.1220G>C (p.Arg407Thr)
c.1427G>C (p.Arg476Thr)
n.479-21750C>G
n.563+22570C>G
c.1445G>C (p.Arg482Thr)
4g.47937274C>TCA356826612CNGA1,NIPAL1c.1208G>A (p.Arg403Lys)
c.1220G>A (p.Arg407Lys)
c.1427G>A (p.Arg476Lys)
n.479-21750C>T
n.563+22570C>T
c.1445G>A (p.Arg482Lys)
4g.47937275T>ACA356826614CNGA1,NIPAL1c.1207A>T (p.Arg403Ter)
c.1219A>T (p.Arg407Ter)
c.1426A>T (p.Arg476Ter)
n.479-21749T>A
n.563+22571T>A
c.1444A>T (p.Arg482Ter)
4g.47937275T>CCA356826616CNGA1,NIPAL1c.1207A>G (p.Arg403Gly)
c.1219A>G (p.Arg407Gly)
c.1426A>G (p.Arg476Gly)
n.479-21749T>C
n.563+22571T>C
c.1444A>G (p.Arg482Gly)
4g.47937275T>GCA439404290CNGA1,NIPAL1c.1207A>C (p.Arg403=)
c.1219A>C (p.Arg407=)
c.1426A>C (p.Arg476=)
n.479-21749T>G
n.563+22571T>G
c.1444A>C (p.Arg482=)
4g.47937276G>ACA439404291CNGA1,NIPAL1c.1206C>T (p.Ala402=)
c.1218C>T (p.Ala406=)
c.1425C>T (p.Ala475=)
n.479-21748G>A
n.563+22572G>A
c.1443C>T (p.Ala481=)
 gnomAD v4
4g.47937276G>CCA439404293CNGA1,NIPAL1c.1206C>G (p.Ala402=)
c.1218C>G (p.Ala406=)
c.1425C>G (p.Ala475=)
n.479-21748G>C
n.563+22572G>C
c.1443C>G (p.Ala481=)
4g.47937276G>TCA439404294CNGA1,NIPAL1c.1206C>A (p.Ala402=)
c.1218C>A (p.Ala406=)
c.1425C>A (p.Ala475=)
n.479-21748G>T
n.563+22572G>T
c.1443C>A (p.Ala481=)
4g.47937277G>ACA356826619CNGA1,NIPAL1c.1205C>T (p.Ala402Val)
c.1217C>T (p.Ala406Val)
c.1424C>T (p.Ala475Val)
n.479-21747G>A
n.563+22573G>A
c.1442C>T (p.Ala481Val)
 ClinVar dbSNP gnomAD v4
4g.47937277G>CCA356826622CNGA1,NIPAL1c.1205C>G (p.Ala402Gly)
c.1217C>G (p.Ala406Gly)
c.1424C>G (p.Ala475Gly)
n.479-21747G>C
n.563+22573G>C
c.1442C>G (p.Ala481Gly)
4g.47937277G>TCA356826623CNGA1,NIPAL1c.1205C>A (p.Ala402Asp)
c.1217C>A (p.Ala406Asp)
c.1424C>A (p.Ala475Asp)
n.479-21747G>T
n.563+22573G>T
c.1442C>A (p.Ala481Asp)
4g.47937278C>ACA2911111CNGA1,NIPAL1c.1204G>T (p.Ala402Ser)
c.1216G>T (p.Ala406Ser)
c.1423G>T (p.Ala475Ser)
n.479-21746C>A
n.563+22574C>A
c.1441G>T (p.Ala481Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937278C=CA1455551907CNGA1,NIPAL1c.1204G= (p.Ala402=)
c.1216G= (p.Ala406=)
c.1423G= (p.Ala475=)
n.479-21746C=
n.563+22574C=
c.1441G= (p.Ala481=)
4g.47937278C>GCA356826627CNGA1,NIPAL1c.1204G>C (p.Ala402Pro)
c.1216G>C (p.Ala406Pro)
c.1423G>C (p.Ala475Pro)
n.479-21746C>G
n.563+22574C>G
c.1441G>C (p.Ala481Pro)
4g.47937278C>TCA356826629CNGA1,NIPAL1c.1204G>A (p.Ala402Thr)
c.1216G>A (p.Ala406Thr)
c.1423G>A (p.Ala475Thr)
n.479-21746C>T
n.563+22574C>T
c.1441G>A (p.Ala481Thr)
4g.47937279T>ACA2911112CNGA1,NIPAL1c.1203A>T (p.Ala401=)
c.1215A>T (p.Ala405=)
c.1422A>T (p.Ala474=)
n.479-21745T>A
n.563+22575T>A
c.1440A>T (p.Ala480=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937279T>CCA439404298CNGA1,NIPAL1c.1203A>G (p.Ala401=)
c.1215A>G (p.Ala405=)
c.1422A>G (p.Ala474=)
n.479-21745T>C
n.563+22575T>C
c.1440A>G (p.Ala480=)
4g.47937279T>GCA439404299CNGA1,NIPAL1c.1203A>C (p.Ala401=)
c.1215A>C (p.Ala405=)
c.1422A>C (p.Ala474=)
n.479-21745T>G
n.563+22575T>G
c.1440A>C (p.Ala480=)
4g.47937279T=CA1455551908CNGA1,NIPAL1c.1203A= (p.Ala401=)
c.1215A= (p.Ala405=)
c.1422A= (p.Ala474=)
n.479-21745T=
n.563+22575T=
c.1440A= (p.Ala480=)
4g.47937280G>ACA356826635CNGA1,NIPAL1c.1202C>T (p.Ala401Val)
c.1214C>T (p.Ala405Val)
c.1421C>T (p.Ala474Val)
n.479-21744G>A
n.563+22576G>A
c.1439C>T (p.Ala480Val)
4g.47937280G>CCA356826638CNGA1,NIPAL1c.1202C>G (p.Ala401Gly)
c.1214C>G (p.Ala405Gly)
c.1421C>G (p.Ala474Gly)
n.479-21744G>C
n.563+22576G>C
c.1439C>G (p.Ala480Gly)
4g.47937280G=CA1455551909CNGA1,NIPAL1c.1202C= (p.Ala401=)
c.1214C= (p.Ala405=)
c.1421C= (p.Ala474=)
n.479-21744G=
n.563+22576G=
c.1439C= (p.Ala480=)
4g.47937280G>TCA2911113CNGA1,NIPAL1c.1202C>A (p.Ala401Glu)
c.1214C>A (p.Ala405Glu)
c.1421C>A (p.Ala474Glu)
n.479-21744G>T
n.563+22576G>T
c.1439C>A (p.Ala480Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937281C>ACA356826642CNGA1,NIPAL1c.1201G>T (p.Ala401Ser)
c.1213G>T (p.Ala405Ser)
c.1420G>T (p.Ala474Ser)
n.479-21743C>A
n.563+22577C>A
c.1438G>T (p.Ala480Ser)
4g.47937281C>GCA356826644CNGA1,NIPAL1c.1201G>C (p.Ala401Pro)
c.1213G>C (p.Ala405Pro)
c.1420G>C (p.Ala474Pro)
n.479-21743C>G
n.563+22577C>G
c.1438G>C (p.Ala480Pro)
4g.47937281C>TCA356826646CNGA1,NIPAL1c.1201G>A (p.Ala401Thr)
c.1213G>A (p.Ala405Thr)
c.1420G>A (p.Ala474Thr)
n.479-21743C>T
n.563+22577C>T
c.1438G>A (p.Ala480Thr)
4g.47937282A>CCA356826648CNGA1,NIPAL1c.1200T>G (p.Asn400Lys)
c.1212T>G (p.Asn404Lys)
c.1419T>G (p.Asn473Lys)
n.479-21742A>C
n.563+22578A>C
c.1437T>G (p.Asn479Lys)
4g.47937282A>GCA439404302CNGA1,NIPAL1c.1200T>C (p.Asn400=)
c.1212T>C (p.Asn404=)
c.1419T>C (p.Asn473=)
n.479-21742A>G
n.563+22578A>G
c.1437T>C (p.Asn479=)
4g.47937282A>TCA356826651CNGA1,NIPAL1c.1200T>A (p.Asn400Lys)
c.1212T>A (p.Asn404Lys)
c.1419T>A (p.Asn473Lys)
n.479-21742A>T
n.563+22578A>T
c.1437T>A (p.Asn479Lys)
4g.47937283T>ACA356826654CNGA1,NIPAL1c.1199A>T (p.Asn400Ile)
c.1211A>T (p.Asn404Ile)
c.1418A>T (p.Asn473Ile)
n.479-21741T>A
n.563+22579T>A
c.1436A>T (p.Asn479Ile)
4g.47937283T>CCA356826656CNGA1,NIPAL1c.1199A>G (p.Asn400Ser)
c.1211A>G (p.Asn404Ser)
c.1418A>G (p.Asn473Ser)
n.479-21741T>C
n.563+22579T>C
c.1436A>G (p.Asn479Ser)
4g.47937283T>GCA356826658CNGA1,NIPAL1c.1199A>C (p.Asn400Thr)
c.1211A>C (p.Asn404Thr)
c.1418A>C (p.Asn473Thr)
n.479-21741T>G
n.563+22579T>G
c.1436A>C (p.Asn479Thr)
4g.47937284T>ACA356826661CNGA1,NIPAL1c.1198A>T (p.Asn400Tyr)
c.1210A>T (p.Asn404Tyr)
c.1417A>T (p.Asn473Tyr)
n.479-21740T>A
n.563+22580T>A
c.1435A>T (p.Asn479Tyr)
4g.47937284T>CCA356826664CNGA1,NIPAL1c.1198A>G (p.Asn400Asp)
c.1210A>G (p.Asn404Asp)
c.1417A>G (p.Asn473Asp)
n.479-21740T>C
n.563+22580T>C
c.1435A>G (p.Asn479Asp)
4g.47937284T>GCA356826662CNGA1,NIPAL1c.1198A>C (p.Asn400His)
c.1210A>C (p.Asn404His)
c.1417A>C (p.Asn473His)
n.479-21740T>G
n.563+22580T>G
c.1435A>C (p.Asn479His)
4g.47937288_47937299delCA2761332301CNGA1,NIPAL1c.1187_1198del (p.Ile396_Met399del)
c.1199_1210del (p.Ile400_Met403del)
c.1406_1417del (p.Ile469_Met472del)
n.479-21736_479-21725del
n.563+22584_563+22595del
c.1424_1435del (p.Ile475_Met478del)
4g.47937285C>ACA356826667CNGA1,NIPAL1c.1197G>T (p.Met399Ile)
c.1209G>T (p.Met403Ile)
c.1416G>T (p.Met472Ile)
n.479-21739C>A
n.563+22581C>A
c.1434G>T (p.Met478Ile)
4g.47937285C>GCA356826672CNGA1,NIPAL1c.1197G>C (p.Met399Ile)
c.1209G>C (p.Met403Ile)
c.1416G>C (p.Met472Ile)
n.479-21739C>G
n.563+22581C>G
c.1434G>C (p.Met478Ile)
4g.47937285C>TCA356826670CNGA1,NIPAL1c.1197G>A (p.Met399Ile)
c.1209G>A (p.Met403Ile)
c.1416G>A (p.Met472Ile)
n.479-21739C>T
n.563+22581C>T
c.1434G>A (p.Met478Ile)
 COSMIC COSMIC
4g.47937286A>CCA356826675CNGA1,NIPAL1c.1196T>G (p.Met399Arg)
c.1208T>G (p.Met403Arg)
c.1415T>G (p.Met472Arg)
n.479-21738A>C
n.563+22582A>C
c.1433T>G (p.Met478Arg)
4g.47937286A>GCA356826677CNGA1,NIPAL1c.1196T>C (p.Met399Thr)
c.1208T>C (p.Met403Thr)
c.1415T>C (p.Met472Thr)
n.479-21738A>G
n.563+22582A>G
c.1433T>C (p.Met478Thr)
4g.47937286A>TCA356826680CNGA1,NIPAL1c.1196T>A (p.Met399Lys)
c.1208T>A (p.Met403Lys)
c.1415T>A (p.Met472Lys)
n.479-21738A>T
n.563+22582A>T
c.1433T>A (p.Met478Lys)
4g.47937287T>ACA356826683CNGA1,NIPAL1c.1195A>T (p.Met399Leu)
c.1207A>T (p.Met403Leu)
c.1414A>T (p.Met472Leu)
n.479-21737T>A
n.563+22583T>A
c.1432A>T (p.Met478Leu)
4g.47937287T>CCA2911114CNGA1,NIPAL1c.1195A>G (p.Met399Val)
c.1207A>G (p.Met403Val)
c.1414A>G (p.Met472Val)
n.479-21737T>C
n.563+22583T>C
c.1432A>G (p.Met478Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937287T>GCA356826686CNGA1,NIPAL1c.1195A>C (p.Met399Leu)
c.1207A>C (p.Met403Leu)
c.1414A>C (p.Met472Leu)
n.479-21737T>G
n.563+22583T>G
c.1432A>C (p.Met478Leu)
4g.47937287T=CA1455551910CNGA1,NIPAL1c.1195A= (p.Met399=)
c.1207A= (p.Met403=)
c.1414A= (p.Met472=)
n.479-21737T=
n.563+22583T=
c.1432A= (p.Met478=)
4g.47937288G>ACA439404307CNGA1,NIPAL1c.1194C>T (p.Asn398=)
c.1206C>T (p.Asn402=)
c.1413C>T (p.Asn471=)
n.479-21736G>A
n.563+22584G>A
c.1431C>T (p.Asn477=)
4g.47937288G>CCA356826689CNGA1,NIPAL1c.1194C>G (p.Asn398Lys)
c.1206C>G (p.Asn402Lys)
c.1413C>G (p.Asn471Lys)
n.479-21736G>C
n.563+22584G>C
c.1431C>G (p.Asn477Lys)
4g.47937288G>TCA356826690CNGA1,NIPAL1c.1194C>A (p.Asn398Lys)
c.1206C>A (p.Asn402Lys)
c.1413C>A (p.Asn471Lys)
n.479-21736G>T
n.563+22584G>T
c.1431C>A (p.Asn477Lys)
4g.47937289T>ACA356826694CNGA1,NIPAL1c.1193A>T (p.Asn398Ile)
c.1205A>T (p.Asn402Ile)
c.1412A>T (p.Asn471Ile)
n.479-21735T>A
n.563+22585T>A
c.1430A>T (p.Asn477Ile)
4g.47937289T>CCA356826695CNGA1,NIPAL1c.1193A>G (p.Asn398Ser)
c.1205A>G (p.Asn402Ser)
c.1412A>G (p.Asn471Ser)
n.479-21735T>C
n.563+22585T>C
c.1430A>G (p.Asn477Ser)
4g.47937289T>GCA356826698CNGA1,NIPAL1c.1193A>C (p.Asn398Thr)
c.1205A>C (p.Asn402Thr)
c.1412A>C (p.Asn471Thr)
n.479-21735T>G
n.563+22585T>G
c.1430A>C (p.Asn477Thr)
4g.47937290T>ACA356826703CNGA1,NIPAL1c.1192A>T (p.Asn398Tyr)
c.1204A>T (p.Asn402Tyr)
c.1411A>T (p.Asn471Tyr)
n.479-21734T>A
n.563+22586T>A
c.1429A>T (p.Asn477Tyr)
4g.47937290T>CCA356826700CNGA1,NIPAL1c.1192A>G (p.Asn398Asp)
c.1204A>G (p.Asn402Asp)
c.1411A>G (p.Asn471Asp)
n.479-21734T>C
n.563+22586T>C
c.1429A>G (p.Asn477Asp)
4g.47937290T>GCA2911115CNGA1,NIPAL1c.1192A>C (p.Asn398His)
c.1204A>C (p.Asn402His)
c.1411A>C (p.Asn471His)
n.479-21734T>G
n.563+22586T>G
c.1429A>C (p.Asn477His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937290T=CA1455551911CNGA1,NIPAL1c.1192A= (p.Asn398=)
c.1204A= (p.Asn402=)
c.1411A= (p.Asn471=)
n.479-21734T=
n.563+22586T=
c.1429A= (p.Asn477=)
4g.47937291G>ACA439404310CNGA1,NIPAL1c.1191C>T (p.Ser397=)
c.1203C>T (p.Ser401=)
c.1410C>T (p.Ser470=)
n.479-21733G>A
n.563+22587G>A
c.1428C>T (p.Ser476=)
4g.47937291G>CCA439404312CNGA1,NIPAL1c.1191C>G (p.Ser397=)
c.1203C>G (p.Ser401=)
c.1410C>G (p.Ser470=)
n.479-21733G>C
n.563+22587G>C
c.1428C>G (p.Ser476=)
4g.47937291G>TCA439404313CNGA1,NIPAL1c.1191C>A (p.Ser397=)
c.1203C>A (p.Ser401=)
c.1410C>A (p.Ser470=)
n.479-21733G>T
n.563+22587G>T
c.1428C>A (p.Ser476=)
4g.47937292G>ACA356826707CNGA1,NIPAL1c.1190C>T (p.Ser397Phe)
c.1202C>T (p.Ser401Phe)
c.1409C>T (p.Ser470Phe)
n.479-21732G>A
n.563+22588G>A
c.1427C>T (p.Ser476Phe)
4g.47937292G>CCA356826709CNGA1,NIPAL1c.1190C>G (p.Ser397Cys)
c.1202C>G (p.Ser401Cys)
c.1409C>G (p.Ser470Cys)
n.479-21732G>C
n.563+22588G>C
c.1427C>G (p.Ser476Cys)
4g.47937292G>TCA356826712CNGA1,NIPAL1c.1190C>A (p.Ser397Tyr)
c.1202C>A (p.Ser401Tyr)
c.1409C>A (p.Ser470Tyr)
n.479-21732G>T
n.563+22588G>T
c.1427C>A (p.Ser476Tyr)
4g.47937293A>CCA356826715CNGA1,NIPAL1c.1189T>G (p.Ser397Ala)
c.1201T>G (p.Ser401Ala)
c.1408T>G (p.Ser470Ala)
n.479-21731A>C
n.563+22589A>C
c.1426T>G (p.Ser476Ala)
4g.47937293A>GCA356826716CNGA1,NIPAL1c.1189T>C (p.Ser397Pro)
c.1201T>C (p.Ser401Pro)
c.1408T>C (p.Ser470Pro)
n.479-21731A>G
n.563+22589A>G
c.1426T>C (p.Ser476Pro)
4g.47937293A>TCA356826718CNGA1,NIPAL1c.1189T>A (p.Ser397Thr)
c.1201T>A (p.Ser401Thr)
c.1408T>A (p.Ser470Thr)
n.479-21731A>T
n.563+22589A>T
c.1426T>A (p.Ser476Thr)
4g.47937294A>CCA356826720CNGA1,NIPAL1c.1188T>G (p.Ile396Met)
c.1200T>G (p.Ile400Met)
c.1407T>G (p.Ile469Met)
n.479-21730A>C
n.563+22590A>C
c.1425T>G (p.Ile475Met)
4g.47937294A>GCA439404316CNGA1,NIPAL1c.1188T>C (p.Ile396=)
c.1200T>C (p.Ile400=)
c.1407T>C (p.Ile469=)
n.479-21730A>G
n.563+22590A>G
c.1425T>C (p.Ile475=)
4g.47937294A>TCA439404314CNGA1,NIPAL1c.1188T>A (p.Ile396=)
c.1200T>A (p.Ile400=)
c.1407T>A (p.Ile469=)
n.479-21730A>T
n.563+22590A>T
c.1425T>A (p.Ile475=)
4g.47937295A>CCA356826723CNGA1,NIPAL1c.1187T>G (p.Ile396Ser)
c.1199T>G (p.Ile400Ser)
c.1406T>G (p.Ile469Ser)
n.479-21729A>C
n.563+22591A>C
c.1424T>G (p.Ile475Ser)
4g.47937295A>GCA356826725CNGA1,NIPAL1c.1187T>C (p.Ile396Thr)
c.1199T>C (p.Ile400Thr)
c.1406T>C (p.Ile469Thr)
n.479-21729A>G
n.563+22591A>G
c.1424T>C (p.Ile475Thr)
 ClinVar
4g.47937295A>TCA356826728CNGA1,NIPAL1c.1187T>A (p.Ile396Asn)
c.1199T>A (p.Ile400Asn)
c.1406T>A (p.Ile469Asn)
n.479-21729A>T
n.563+22591A>T
c.1424T>A (p.Ile475Asn)
4g.47937296T>ACA356826733CNGA1,NIPAL1c.1186A>T (p.Ile396Phe)
c.1198A>T (p.Ile400Phe)
c.1405A>T (p.Ile469Phe)
n.479-21728T>A
n.563+22592T>A
c.1423A>T (p.Ile475Phe)
4g.47937296T>CCA356826734CNGA1,NIPAL1c.1186A>G (p.Ile396Val)
c.1198A>G (p.Ile400Val)
c.1405A>G (p.Ile469Val)
n.479-21728T>C
n.563+22592T>C
c.1423A>G (p.Ile475Val)
 dbSNP
4g.47937296T>GCA356826731CNGA1,NIPAL1c.1186A>C (p.Ile396Leu)
c.1198A>C (p.Ile400Leu)
c.1405A>C (p.Ile469Leu)
n.479-21728T>G
n.563+22592T>G
c.1423A>C (p.Ile475Leu)
 COSMIC
4g.47937296T=CA1455551912CNGA1,NIPAL1c.1186A= (p.Ile396=)
c.1198A= (p.Ile400=)
c.1405A= (p.Ile469=)
n.479-21728T=
n.563+22592T=
c.1423A= (p.Ile475=)
4g.47937297C>ACA356826738CNGA1,NIPAL1c.1185G>T (p.Met395Ile)
c.1197G>T (p.Met399Ile)
c.1404G>T (p.Met468Ile)
n.479-21727C>A
n.563+22593C>A
c.1422G>T (p.Met474Ile)
4g.47937297C=CA1455551913CNGA1,NIPAL1c.1185G= (p.Met395=)
c.1197G= (p.Met399=)
c.1404G= (p.Met468=)
n.479-21727C=
n.563+22593C=
c.1422G= (p.Met474=)
4g.47937297C>GCA356826740CNGA1,NIPAL1c.1185G>C (p.Met395Ile)
c.1197G>C (p.Met399Ile)
c.1404G>C (p.Met468Ile)
n.479-21727C>G
n.563+22593C>G
c.1422G>C (p.Met474Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.47937297C>TCA356826742CNGA1,NIPAL1c.1185G>A (p.Met395Ile)
c.1197G>A (p.Met399Ile)
c.1404G>A (p.Met468Ile)
n.479-21727C>T
n.563+22593C>T
c.1422G>A (p.Met474Ile)
 COSMIC COSMIC
4g.47937298A=CA1455551914CNGA1,NIPAL1c.1184T= (p.Met395=)
c.1196T= (p.Met399=)
c.1403T= (p.Met468=)
n.479-21726A=
n.563+22594A=
c.1421T= (p.Met474=)
4g.47937298A>CCA356826745CNGA1,NIPAL1c.1184T>G (p.Met395Arg)
c.1196T>G (p.Met399Arg)
c.1403T>G (p.Met468Arg)
n.479-21726A>C
n.563+22594A>C
c.1421T>G (p.Met474Arg)
4g.47937298A>GCA356826747CNGA1,NIPAL1c.1184T>C (p.Met395Thr)
c.1196T>C (p.Met399Thr)
c.1403T>C (p.Met468Thr)
n.479-21726A>G
n.563+22594A>G
c.1421T>C (p.Met474Thr)
 dbSNP gnomAD v3 gnomAD v4
4g.47937298A>TCA356826748CNGA1,NIPAL1c.1184T>A (p.Met395Lys)
c.1196T>A (p.Met399Lys)
c.1403T>A (p.Met468Lys)
n.479-21726A>T
n.563+22594A>T
c.1421T>A (p.Met474Lys)
 dbSNP
4g.47937299T>ACA356826751CNGA1,NIPAL1c.1183A>T (p.Met395Leu)
c.1195A>T (p.Met399Leu)
c.1402A>T (p.Met468Leu)
n.479-21725T>A
n.563+22595T>A
c.1420A>T (p.Met474Leu)
4g.47937299T>CCA356826753CNGA1,NIPAL1c.1183A>G (p.Met395Val)
c.1195A>G (p.Met399Val)
c.1402A>G (p.Met468Val)
n.479-21725T>C
n.563+22595T>C
c.1420A>G (p.Met474Val)
4g.47937299T>GCA356826755CNGA1,NIPAL1c.1183A>C (p.Met395Leu)
c.1195A>C (p.Met399Leu)
c.1402A>C (p.Met468Leu)
n.479-21725T>G
n.563+22595T>G
c.1420A>C (p.Met474Leu)
4g.47937300A>CCA439404321CNGA1,NIPAL1c.1182T>G (p.Ser394=)
c.1194T>G (p.Ser398=)
c.1401T>G (p.Ser467=)
n.479-21724A>C
n.563+22596A>C
c.1419T>G (p.Ser473=)
4g.47937300A>GCA439404323CNGA1,NIPAL1c.1182T>C (p.Ser394=)
c.1194T>C (p.Ser398=)
c.1401T>C (p.Ser467=)
n.479-21724A>G
n.563+22596A>G
c.1419T>C (p.Ser473=)
4g.47937300A>TCA439404322CNGA1,NIPAL1c.1182T>A (p.Ser394=)
c.1194T>A (p.Ser398=)
c.1401T>A (p.Ser467=)
n.479-21724A>T
n.563+22596A>T
c.1419T>A (p.Ser473=)
4g.47937301G>ACA356826757CNGA1,NIPAL1c.1181C>T (p.Ser394Phe)
c.1193C>T (p.Ser398Phe)
c.1400C>T (p.Ser467Phe)
n.479-21723G>A
n.563+22597G>A
c.1418C>T (p.Ser473Phe)
 gnomAD v4
4g.47937301G>CCA356826759CNGA1,NIPAL1c.1181C>G (p.Ser394Cys)
c.1193C>G (p.Ser398Cys)
c.1400C>G (p.Ser467Cys)
n.479-21723G>C
n.563+22597G>C
c.1418C>G (p.Ser473Cys)
4g.47937301G>TCA356826761CNGA1,NIPAL1c.1181C>A (p.Ser394Tyr)
c.1193C>A (p.Ser398Tyr)
c.1400C>A (p.Ser467Tyr)
n.479-21723G>T
n.563+22597G>T
c.1418C>A (p.Ser473Tyr)
4g.47937302A=CA1455551915CNGA1,NIPAL1c.1180T= (p.Ser394=)
c.1192T= (p.Ser398=)
c.1399T= (p.Ser467=)
n.479-21722A=
n.563+22598A=
c.1417T= (p.Ser473=)
4g.47937302A>CCA356826767CNGA1,NIPAL1c.1180T>G (p.Ser394Ala)
c.1192T>G (p.Ser398Ala)
c.1399T>G (p.Ser467Ala)
n.479-21722A>C
n.563+22598A>C
c.1417T>G (p.Ser473Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.47937302A>GCA356826764CNGA1,NIPAL1c.1180T>C (p.Ser394Pro)
c.1192T>C (p.Ser398Pro)
c.1399T>C (p.Ser467Pro)
n.479-21722A>G
n.563+22598A>G
c.1417T>C (p.Ser473Pro)
4g.47937302A>TCA356826766CNGA1,NIPAL1c.1180T>A (p.Ser394Thr)
c.1192T>A (p.Ser398Thr)
c.1399T>A (p.Ser467Thr)
n.479-21722A>T
n.563+22598A>T
c.1417T>A (p.Ser473Thr)
4g.47937303A>CCA439404325CNGA1,NIPAL1c.1179T>G (p.Gly393=)
c.1191T>G (p.Gly397=)
c.1398T>G (p.Gly466=)
n.479-21721A>C
n.563+22599A>C
c.1416T>G (p.Gly472=)
4g.47937303A>GCA439404326CNGA1,NIPAL1c.1179T>C (p.Gly393=)
c.1191T>C (p.Gly397=)
c.1398T>C (p.Gly466=)
n.479-21721A>G
n.563+22599A>G
c.1416T>C (p.Gly472=)
4g.47937303A>TCA439404327CNGA1,NIPAL1c.1179T>A (p.Gly393=)
c.1191T>A (p.Gly397=)
c.1398T>A (p.Gly466=)
n.479-21721A>T
n.563+22599A>T
c.1416T>A (p.Gly472=)

Number of alleles fetched