Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47937161dupCA2911096CNGA1,NIPAL1c.1327dup (p.Thr443AsnfsTer3)
c.1339dup (p.Thr447AsnfsTer3)
c.1546dup (p.Thr516AsnfsTer3)
n.479-21863dup
n.563+22457dup
c.1564dup (p.Thr522AsnfsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.47937161delCA439404042CNGA1,NIPAL1c.1327del (p.Thr443GlnfsTer8)
c.1339del (p.Thr447GlnfsTer8)
c.1546del (p.Thr516GlnfsTer8)
n.479-21863del
n.563+22457del
c.1564del (p.Thr522GlnfsTer8)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.47937160T>ACA356826026CNGA1,NIPAL1c.1322A>T (p.Lys441Ile)
c.1334A>T (p.Lys445Ile)
c.1541A>T (p.Lys514Ile)
n.479-21864T>A
n.563+22456T>A
c.1559A>T (p.Lys520Ile)
4g.47937160T>CCA356826024CNGA1,NIPAL1c.1322A>G (p.Lys441Arg)
c.1334A>G (p.Lys445Arg)
c.1541A>G (p.Lys514Arg)
n.479-21864T>C
n.563+22456T>C
c.1559A>G (p.Lys520Arg)
4g.47937160T>GCA356826025CNGA1,NIPAL1c.1322A>C (p.Lys441Thr)
c.1334A>C (p.Lys445Thr)
c.1541A>C (p.Lys514Thr)
n.479-21864T>G
n.563+22456T>G
c.1559A>C (p.Lys520Thr)
4g.47937161T>ACA356826027CNGA1,NIPAL1c.1321A>T (p.Lys441Ter)
c.1333A>T (p.Lys445Ter)
c.1540A>T (p.Lys514Ter)
n.479-21863T>A
n.563+22457T>A
c.1558A>T (p.Lys520Ter)
4g.47937161T>CCA356826028CNGA1,NIPAL1c.1321A>G (p.Lys441Glu)
c.1333A>G (p.Lys445Glu)
c.1540A>G (p.Lys514Glu)
n.479-21863T>C
n.563+22457T>C
c.1558A>G (p.Lys520Glu)
4g.47937161T>GCA356826029CNGA1,NIPAL1c.1321A>C (p.Lys441Gln)
c.1333A>C (p.Lys445Gln)
c.1540A>C (p.Lys514Gln)
n.479-21863T>G
n.563+22457T>G
c.1558A>C (p.Lys520Gln)
4g.47937162G>ACA96688776CNGA1,NIPAL1c.1320C>T (p.Asn440=)
c.1332C>T (p.Asn444=)
c.1539C>T (p.Asn513=)
n.479-21862G>A
n.563+22458G>A
c.1557C>T (p.Asn519=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937162G>CCA356826030CNGA1,NIPAL1c.1320C>G (p.Asn440Lys)
c.1332C>G (p.Asn444Lys)
c.1539C>G (p.Asn513Lys)
n.479-21862G>C
n.563+22458G>C
c.1557C>G (p.Asn519Lys)
4g.47937162G=CA1455551860CNGA1,NIPAL1c.1320C= (p.Asn440=)
c.1332C= (p.Asn444=)
c.1539C= (p.Asn513=)
n.479-21862G=
n.563+22458G=
c.1557C= (p.Asn519=)
4g.47937162G>TCA356826031CNGA1,NIPAL1c.1320C>A (p.Asn440Lys)
c.1332C>A (p.Asn444Lys)
c.1539C>A (p.Asn513Lys)
n.479-21862G>T
n.563+22458G>T
c.1557C>A (p.Asn519Lys)
 gnomAD v4
4g.47937163T>ACA356826034CNGA1,NIPAL1c.1319A>T (p.Asn440Ile)
c.1331A>T (p.Asn444Ile)
c.1538A>T (p.Asn513Ile)
n.479-21861T>A
n.563+22459T>A
c.1556A>T (p.Asn519Ile)
4g.47937163T>CCA356826033CNGA1,NIPAL1c.1319A>G (p.Asn440Ser)
c.1331A>G (p.Asn444Ser)
c.1538A>G (p.Asn513Ser)
n.479-21861T>C
n.563+22459T>C
c.1556A>G (p.Asn519Ser)
4g.47937163T>GCA356826032CNGA1,NIPAL1c.1319A>C (p.Asn440Thr)
c.1331A>C (p.Asn444Thr)
c.1538A>C (p.Asn513Thr)
n.479-21861T>G
n.563+22459T>G
c.1556A>C (p.Asn519Thr)
4g.47937164T>ACA356826035CNGA1,NIPAL1c.1318A>T (p.Asn440Tyr)
c.1330A>T (p.Asn444Tyr)
c.1537A>T (p.Asn513Tyr)
n.479-21860T>A
n.563+22460T>A
c.1555A>T (p.Asn519Tyr)
4g.47937164T>CCA356826036CNGA1,NIPAL1c.1318A>G (p.Asn440Asp)
c.1330A>G (p.Asn444Asp)
c.1537A>G (p.Asn513Asp)
n.479-21860T>C
n.563+22460T>C
c.1555A>G (p.Asn519Asp)
4g.47937164T>GCA356826037CNGA1,NIPAL1c.1318A>C (p.Asn440His)
c.1330A>C (p.Asn444His)
c.1537A>C (p.Asn513His)
n.479-21860T>G
n.563+22460T>G
c.1555A>C (p.Asn519His)
4g.47937165G>ACA439404064CNGA1,NIPAL1c.1317C>T (p.Thr439=)
c.1329C>T (p.Thr443=)
c.1536C>T (p.Thr512=)
n.479-21859G>A
n.563+22461G>A
c.1554C>T (p.Thr518=)
 ClinVar
4g.47937165G>CCA439404066CNGA1,NIPAL1c.1317C>G (p.Thr439=)
c.1329C>G (p.Thr443=)
c.1536C>G (p.Thr512=)
n.479-21859G>C
n.563+22461G>C
c.1554C>G (p.Thr518=)
4g.47937165G>TCA439404068CNGA1,NIPAL1c.1317C>A (p.Thr439=)
c.1329C>A (p.Thr443=)
c.1536C>A (p.Thr512=)
n.479-21859G>T
n.563+22461G>T
c.1554C>A (p.Thr518=)
4g.47937166G>ACA356826038CNGA1,NIPAL1c.1316C>T (p.Thr439Ile)
c.1328C>T (p.Thr443Ile)
c.1535C>T (p.Thr512Ile)
n.479-21858G>A
n.563+22462G>A
c.1553C>T (p.Thr518Ile)
4g.47937166G>CCA356826039CNGA1,NIPAL1c.1316C>G (p.Thr439Ser)
c.1328C>G (p.Thr443Ser)
c.1535C>G (p.Thr512Ser)
n.479-21858G>C
n.563+22462G>C
c.1553C>G (p.Thr518Ser)
4g.47937166G>TCA356826040CNGA1,NIPAL1c.1316C>A (p.Thr439Asn)
c.1328C>A (p.Thr443Asn)
c.1535C>A (p.Thr512Asn)
n.479-21858G>T
n.563+22462G>T
c.1553C>A (p.Thr518Asn)
4g.47937167T>ACA356826041CNGA1,NIPAL1c.1315A>T (p.Thr439Ser)
c.1327A>T (p.Thr443Ser)
c.1534A>T (p.Thr512Ser)
n.479-21857T>A
n.563+22463T>A
c.1552A>T (p.Thr518Ser)
4g.47937167T>CCA356826043CNGA1,NIPAL1c.1315A>G (p.Thr439Ala)
c.1327A>G (p.Thr443Ala)
c.1534A>G (p.Thr512Ala)
n.479-21857T>C
n.563+22463T>C
c.1552A>G (p.Thr518Ala)
4g.47937167T>GCA356826042CNGA1,NIPAL1c.1315A>C (p.Thr439Pro)
c.1327A>C (p.Thr443Pro)
c.1534A>C (p.Thr512Pro)
n.479-21857T>G
n.563+22463T>G
c.1552A>C (p.Thr518Pro)
4g.47937168C>ACA356826044CNGA1,NIPAL1c.1314G>T (p.Trp438Cys)
c.1326G>T (p.Trp442Cys)
c.1533G>T (p.Trp511Cys)
n.479-21856C>A
n.563+22464C>A
c.1551G>T (p.Trp517Cys)
4g.47937168C>GCA356826045CNGA1,NIPAL1c.1314G>C (p.Trp438Cys)
c.1326G>C (p.Trp442Cys)
c.1533G>C (p.Trp511Cys)
n.479-21856C>G
n.563+22464C>G
c.1551G>C (p.Trp517Cys)
4g.47937168C>TCA356826046CNGA1,NIPAL1c.1314G>A (p.Trp438Ter)
c.1326G>A (p.Trp442Ter)
c.1533G>A (p.Trp511Ter)
n.479-21856C>T
n.563+22464C>T
c.1551G>A (p.Trp517Ter)
4g.47937169C>ACA356826047CNGA1,NIPAL1c.1313G>T (p.Trp438Leu)
c.1325G>T (p.Trp442Leu)
c.1532G>T (p.Trp511Leu)
n.479-21855C>A
n.563+22465C>A
c.1550G>T (p.Trp517Leu)
4g.47937169C=CA1455551861CNGA1,NIPAL1c.1313G= (p.Trp438=)
c.1325G= (p.Trp442=)
c.1532G= (p.Trp511=)
n.479-21855C=
n.563+22465C=
c.1550G= (p.Trp517=)
4g.47937169C>GCA356826048CNGA1,NIPAL1c.1313G>C (p.Trp438Ser)
c.1325G>C (p.Trp442Ser)
c.1532G>C (p.Trp511Ser)
n.479-21855C>G
n.563+22465C>G
c.1550G>C (p.Trp517Ser)
4g.47937169C>TCA356826049CNGA1,NIPAL1c.1313G>A (p.Trp438Ter)
c.1325G>A (p.Trp442Ter)
c.1532G>A (p.Trp511Ter)
n.479-21855C>T
n.563+22465C>T
c.1550G>A (p.Trp517Ter)
 dbSNP
4g.47937170A=CA1455551862CNGA1,NIPAL1c.1312T= (p.Trp438=)
c.1324T= (p.Trp442=)
c.1531T= (p.Trp511=)
n.479-21854A=
n.563+22466A=
c.1549T= (p.Trp517=)
4g.47937170A>CCA2911098CNGA1,NIPAL1c.1312T>G (p.Trp438Gly)
c.1324T>G (p.Trp442Gly)
c.1531T>G (p.Trp511Gly)
n.479-21854A>C
n.563+22466A>C
c.1549T>G (p.Trp517Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937170A>GCA356826050CNGA1,NIPAL1c.1312T>C (p.Trp438Arg)
c.1324T>C (p.Trp442Arg)
c.1531T>C (p.Trp511Arg)
n.479-21854A>G
n.563+22466A>G
c.1549T>C (p.Trp517Arg)
 COSMIC
4g.47937170A>TCA356826051CNGA1,NIPAL1c.1312T>A (p.Trp438Arg)
c.1324T>A (p.Trp442Arg)
c.1531T>A (p.Trp511Arg)
n.479-21854A>T
n.563+22466A>T
c.1549T>A (p.Trp517Arg)
4g.47937171C>ACA439404079CNGA1,NIPAL1c.1311G>T (p.Leu437=)
c.1323G>T (p.Leu441=)
c.1530G>T (p.Leu510=)
n.479-21853C>A
n.563+22467C>A
c.1548G>T (p.Leu516=)
4g.47937171C=CA1455551863CNGA1,NIPAL1c.1311G= (p.Leu437=)
c.1323G= (p.Leu441=)
c.1530G= (p.Leu510=)
n.479-21853C=
n.563+22467C=
c.1548G= (p.Leu516=)
4g.47937171C>GCA439404081CNGA1,NIPAL1c.1311G>C (p.Leu437=)
c.1323G>C (p.Leu441=)
c.1530G>C (p.Leu510=)
n.479-21853C>G
n.563+22467C>G
c.1548G>C (p.Leu516=)
4g.47937171C>TCA96688804CNGA1,NIPAL1c.1311G>A (p.Leu437=)
c.1323G>A (p.Leu441=)
c.1530G>A (p.Leu510=)
n.479-21853C>T
n.563+22467C>T
c.1548G>A (p.Leu516=)
 dbSNP
4g.47937172A>CCA356826052CNGA1,NIPAL1c.1310T>G (p.Leu437Arg)
c.1322T>G (p.Leu441Arg)
c.1529T>G (p.Leu510Arg)
n.479-21852A>C
n.563+22468A>C
c.1547T>G (p.Leu516Arg)
4g.47937172A>GCA356826053CNGA1,NIPAL1c.1310T>C (p.Leu437Pro)
c.1322T>C (p.Leu441Pro)
c.1529T>C (p.Leu510Pro)
n.479-21852A>G
n.563+22468A>G
c.1547T>C (p.Leu516Pro)
 gnomAD v4
4g.47937172A>TCA356826054CNGA1,NIPAL1c.1310T>A (p.Leu437Gln)
c.1322T>A (p.Leu441Gln)
c.1529T>A (p.Leu510Gln)
n.479-21852A>T
n.563+22468A>T
c.1547T>A (p.Leu516Gln)
4g.47937173G>ACA2911100CNGA1,NIPAL1c.1309C>T (p.Leu437=)
c.1321C>T (p.Leu441=)
c.1528C>T (p.Leu510=)
n.479-21851G>A
n.563+22469G>A
c.1546C>T (p.Leu516=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937173G>CCA2911099CNGA1,NIPAL1c.1309C>G (p.Leu437Val)
c.1321C>G (p.Leu441Val)
c.1528C>G (p.Leu510Val)
n.479-21851G>C
n.563+22469G>C
c.1546C>G (p.Leu516Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937173G=CA1455551864CNGA1,NIPAL1c.1309C= (p.Leu437=)
c.1321C= (p.Leu441=)
c.1528C= (p.Leu510=)
n.479-21851G=
n.563+22469G=
c.1546C= (p.Leu516=)
4g.47937173G>TCA356826055CNGA1,NIPAL1c.1309C>A (p.Leu437Met)
c.1321C>A (p.Leu441Met)
c.1528C>A (p.Leu510Met)
n.479-21851G>T
n.563+22469G>T
c.1546C>A (p.Leu516Met)
4g.47937174G>ACA439404085CNGA1,NIPAL1c.1308C>T (p.Tyr436=)
c.1320C>T (p.Tyr440=)
c.1527C>T (p.Tyr509=)
n.479-21850G>A
n.563+22470G>A
c.1545C>T (p.Tyr515=)
4g.47937174G>CCA356826056CNGA1,NIPAL1c.1308C>G (p.Tyr436Ter)
c.1320C>G (p.Tyr440Ter)
c.1527C>G (p.Tyr509Ter)
n.479-21850G>C
n.563+22470G>C
c.1545C>G (p.Tyr515Ter)
4g.47937174G>TCA356826058CNGA1,NIPAL1c.1308C>A (p.Tyr436Ter)
c.1320C>A (p.Tyr440Ter)
c.1527C>A (p.Tyr509Ter)
n.479-21850G>T
n.563+22470G>T
c.1545C>A (p.Tyr515Ter)
 gnomAD v4
4g.47937175T>ACA356826061CNGA1,NIPAL1c.1307A>T (p.Tyr436Phe)
c.1319A>T (p.Tyr440Phe)
c.1526A>T (p.Tyr509Phe)
n.479-21849T>A
n.563+22471T>A
c.1544A>T (p.Tyr515Phe)
4g.47937175T>CCA356826062CNGA1,NIPAL1c.1307A>G (p.Tyr436Cys)
c.1319A>G (p.Tyr440Cys)
c.1526A>G (p.Tyr509Cys)
n.479-21849T>C
n.563+22471T>C
c.1544A>G (p.Tyr515Cys)
4g.47937175T>GCA356826064CNGA1,NIPAL1c.1307A>C (p.Tyr436Ser)
c.1319A>C (p.Tyr440Ser)
c.1526A>C (p.Tyr509Ser)
n.479-21849T>G
n.563+22471T>G
c.1544A>C (p.Tyr515Ser)
4g.47937176A=CA1455551865CNGA1,NIPAL1c.1306T= (p.Tyr436=)
c.1318T= (p.Tyr440=)
c.1525T= (p.Tyr509=)
n.479-21848A=
n.563+22472A=
c.1543T= (p.Tyr515=)
4g.47937176A>CCA356826069CNGA1,NIPAL1c.1306T>G (p.Tyr436Asp)
c.1318T>G (p.Tyr440Asp)
c.1525T>G (p.Tyr509Asp)
n.479-21848A>C
n.563+22472A>C
c.1543T>G (p.Tyr515Asp)
4g.47937176A>GCA356826066CNGA1,NIPAL1c.1306T>C (p.Tyr436His)
c.1318T>C (p.Tyr440His)
c.1525T>C (p.Tyr509His)
n.479-21848A>G
n.563+22472A>G
c.1543T>C (p.Tyr515His)
4g.47937176A>TCA356826068CNGA1,NIPAL1c.1306T>A (p.Tyr436Asn)
c.1318T>A (p.Tyr440Asn)
c.1525T>A (p.Tyr509Asn)
n.479-21848A>T
n.563+22472A>T
c.1543T>A (p.Tyr515Asn)
 dbSNP gnomAD v3 gnomAD v4
4g.47937177G>ACA439404090CNGA1,NIPAL1c.1305C>T (p.Asp435=)
c.1317C>T (p.Asp439=)
c.1524C>T (p.Asp508=)
n.479-21847G>A
n.563+22473G>A
c.1542C>T (p.Asp514=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47937177G>CCA356826071CNGA1,NIPAL1c.1305C>G (p.Asp435Glu)
c.1317C>G (p.Asp439Glu)
c.1524C>G (p.Asp508Glu)
n.479-21847G>C
n.563+22473G>C
c.1542C>G (p.Asp514Glu)
 gnomAD v4
4g.47937177G=CA1455551866CNGA1,NIPAL1c.1305C= (p.Asp435=)
c.1317C= (p.Asp439=)
c.1524C= (p.Asp508=)
n.479-21847G=
n.563+22473G=
c.1542C= (p.Asp514=)
4g.47937177G>TCA356826072CNGA1,NIPAL1c.1305C>A (p.Asp435Glu)
c.1317C>A (p.Asp439Glu)
c.1524C>A (p.Asp508Glu)
n.479-21847G>T
n.563+22473G>T
c.1542C>A (p.Asp514Glu)
4g.47937177_47937179delCA2761332298CNGA1,NIPAL1c.1303_1305del (p.Asp435del)
c.1315_1317del (p.Asp439del)
c.1522_1524del (p.Asp508del)
n.479-21847_479-21845del
n.563+22473_563+22475del
c.1540_1542del (p.Asp514del)
4g.47937178T>ACA356826075CNGA1,NIPAL1c.1304A>T (p.Asp435Val)
c.1316A>T (p.Asp439Val)
c.1523A>T (p.Asp508Val)
n.479-21846T>A
n.563+22474T>A
c.1541A>T (p.Asp514Val)
4g.47937178T>CCA356826077CNGA1,NIPAL1c.1304A>G (p.Asp435Gly)
c.1316A>G (p.Asp439Gly)
c.1523A>G (p.Asp508Gly)
n.479-21846T>C
n.563+22474T>C
c.1541A>G (p.Asp514Gly)
 dbSNP
4g.47937178T>GCA356826078CNGA1,NIPAL1c.1304A>C (p.Asp435Ala)
c.1316A>C (p.Asp439Ala)
c.1523A>C (p.Asp508Ala)
n.479-21846T>G
n.563+22474T>G
c.1541A>C (p.Asp514Ala)
4g.47937178T=CA1455551867CNGA1,NIPAL1c.1304A= (p.Asp435=)
c.1316A= (p.Asp439=)
c.1523A= (p.Asp508=)
n.479-21846T=
n.563+22474T=
c.1541A= (p.Asp514=)
4g.47937179C>ACA356826084CNGA1,NIPAL1c.1303G>T (p.Asp435Tyr)
c.1315G>T (p.Asp439Tyr)
c.1522G>T (p.Asp508Tyr)
n.479-21845C>A
n.563+22475C>A
c.1540G>T (p.Asp514Tyr)
4g.47937179C=CA1455551868CNGA1,NIPAL1c.1303G= (p.Asp435=)
c.1315G= (p.Asp439=)
c.1522G= (p.Asp508=)
n.479-21845C=
n.563+22475C=
c.1540G= (p.Asp514=)
4g.47937179C>GCA356826081CNGA1,NIPAL1c.1303G>C (p.Asp435His)
c.1315G>C (p.Asp439His)
c.1522G>C (p.Asp508His)
n.479-21845C>G
n.563+22475C>G
c.1540G>C (p.Asp514His)
4g.47937179C>TCA356826083CNGA1,NIPAL1c.1303G>A (p.Asp435Asn)
c.1315G>A (p.Asp439Asn)
c.1522G>A (p.Asp508Asn)
n.479-21845C>T
n.563+22475C>T
c.1540G>A (p.Asp514Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.47937180A>CCA356826087CNGA1,NIPAL1c.1302T>G (p.Phe434Leu)
c.1314T>G (p.Phe438Leu)
c.1521T>G (p.Phe507Leu)
n.479-21844A>C
n.563+22476A>C
c.1539T>G (p.Phe513Leu)
4g.47937180A>GCA439404093CNGA1,NIPAL1c.1302T>C (p.Phe434=)
c.1314T>C (p.Phe438=)
c.1521T>C (p.Phe507=)
n.479-21844A>G
n.563+22476A>G
c.1539T>C (p.Phe513=)
4g.47937180A>TCA356826089CNGA1,NIPAL1c.1302T>A (p.Phe434Leu)
c.1314T>A (p.Phe438Leu)
c.1521T>A (p.Phe507Leu)
n.479-21844A>T
n.563+22476A>T
c.1539T>A (p.Phe513Leu)
4g.47937181A>CCA356826091CNGA1,NIPAL1c.1301T>G (p.Phe434Cys)
c.1313T>G (p.Phe438Cys)
c.1520T>G (p.Phe507Cys)
n.479-21843A>C
n.563+22477A>C
c.1538T>G (p.Phe513Cys)
4g.47937181A>GCA356826093CNGA1,NIPAL1c.1301T>C (p.Phe434Ser)
c.1313T>C (p.Phe438Ser)
c.1520T>C (p.Phe507Ser)
n.479-21843A>G
n.563+22477A>G
c.1538T>C (p.Phe513Ser)
4g.47937181A>TCA356826094CNGA1,NIPAL1c.1301T>A (p.Phe434Tyr)
c.1313T>A (p.Phe438Tyr)
c.1520T>A (p.Phe507Tyr)
n.479-21843A>T
n.563+22477A>T
c.1538T>A (p.Phe513Tyr)
4g.47937181_47937183delCA2761332299CNGA1,NIPAL1c.1299_1301del (p.Trp433_Phe434delinsCys)
c.1311_1313del (p.Trp437_Phe438delinsCys)
c.1518_1520del (p.Trp506_Phe507delinsCys)
n.479-21843_479-21841del
n.563+22477_563+22479del
c.1536_1538del (p.Trp512_Phe513delinsCys)
4g.47937182A>CCA356826096CNGA1,NIPAL1c.1300T>G (p.Phe434Val)
c.1312T>G (p.Phe438Val)
c.1519T>G (p.Phe507Val)
n.479-21842A>C
n.563+22478A>C
c.1537T>G (p.Phe513Val)
4g.47937182A>GCA356826098CNGA1,NIPAL1c.1300T>C (p.Phe434Leu)
c.1312T>C (p.Phe438Leu)
c.1519T>C (p.Phe507Leu)
n.479-21842A>G
n.563+22478A>G
c.1537T>C (p.Phe513Leu)
4g.47937182A>TCA356826100CNGA1,NIPAL1c.1300T>A (p.Phe434Ile)
c.1312T>A (p.Phe438Ile)
c.1519T>A (p.Phe507Ile)
n.479-21842A>T
n.563+22478A>T
c.1537T>A (p.Phe513Ile)
4g.47937183C>ACA356826102CNGA1,NIPAL1c.1299G>T (p.Trp433Cys)
c.1311G>T (p.Trp437Cys)
c.1518G>T (p.Trp506Cys)
n.479-21841C>A
n.563+22479C>A
c.1536G>T (p.Trp512Cys)
4g.47937183C>GCA356826104CNGA1,NIPAL1c.1299G>C (p.Trp433Cys)
c.1311G>C (p.Trp437Cys)
c.1518G>C (p.Trp506Cys)
n.479-21841C>G
n.563+22479C>G
c.1536G>C (p.Trp512Cys)
4g.47937183C>TCA356826106CNGA1,NIPAL1c.1299G>A (p.Trp433Ter)
c.1311G>A (p.Trp437Ter)
c.1518G>A (p.Trp506Ter)
n.479-21841C>T
n.563+22479C>T
c.1536G>A (p.Trp512Ter)
4g.47937184dupCA2670552351CNGA1,NIPAL1c.1299dup (p.Phe434ValfsTer2)
c.1311dup (p.Phe438ValfsTer2)
c.1518dup (p.Phe507ValfsTer2)
n.479-21840dup
n.563+22480dup
c.1536dup (p.Phe513ValfsTer2)
 gnomAD v4
4g.47937184C>ACA2911101CNGA1,NIPAL1c.1298G>T (p.Trp433Leu)
c.1310G>T (p.Trp437Leu)
c.1517G>T (p.Trp506Leu)
n.479-21840C>A
n.563+22480C>A
c.1535G>T (p.Trp512Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47937184C=CA1455551869CNGA1,NIPAL1c.1298G= (p.Trp433=)
c.1310G= (p.Trp437=)
c.1517G= (p.Trp506=)
n.479-21840C=
n.563+22480C=
c.1535G= (p.Trp512=)
4g.47937184C>GCA356826109CNGA1,NIPAL1c.1298G>C (p.Trp433Ser)
c.1310G>C (p.Trp437Ser)
c.1517G>C (p.Trp506Ser)
n.479-21840C>G
n.563+22480C>G
c.1535G>C (p.Trp512Ser)
4g.47937184C>TCA2911102CNGA1,NIPAL1c.1298G>A (p.Trp433Ter)
c.1310G>A (p.Trp437Ter)
c.1517G>A (p.Trp506Ter)
n.479-21840C>T
n.563+22480C>T
c.1535G>A (p.Trp512Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937185A>CCA356826116CNGA1,NIPAL1c.1297T>G (p.Trp433Gly)
c.1309T>G (p.Trp437Gly)
c.1516T>G (p.Trp506Gly)
n.479-21839A>C
n.563+22481A>C
c.1534T>G (p.Trp512Gly)
4g.47937185A>GCA356826113CNGA1,NIPAL1c.1297T>C (p.Trp433Arg)
c.1309T>C (p.Trp437Arg)
c.1516T>C (p.Trp506Arg)
n.479-21839A>G
n.563+22481A>G
c.1534T>C (p.Trp512Arg)
4g.47937185A>TCA356826114CNGA1,NIPAL1c.1297T>A (p.Trp433Arg)
c.1309T>A (p.Trp437Arg)
c.1516T>A (p.Trp506Arg)
n.479-21839A>T
n.563+22481A>T
c.1534T>A (p.Trp512Arg)
4g.47937186T>ACA356826119CNGA1,NIPAL1c.1296A>T (p.Lys432Asn)
c.1308A>T (p.Lys436Asn)
c.1515A>T (p.Lys505Asn)
n.479-21838T>A
n.563+22482T>A
c.1533A>T (p.Lys511Asn)
4g.47937186T>CCA439404100CNGA1,NIPAL1c.1296A>G (p.Lys432=)
c.1308A>G (p.Lys436=)
c.1515A>G (p.Lys505=)
n.479-21838T>C
n.563+22482T>C
c.1533A>G (p.Lys511=)
4g.47937186T>GCA356826120CNGA1,NIPAL1c.1296A>C (p.Lys432Asn)
c.1308A>C (p.Lys436Asn)
c.1515A>C (p.Lys505Asn)
n.479-21838T>G
n.563+22482T>G
c.1533A>C (p.Lys511Asn)
4g.47937187T>ACA356826123CNGA1,NIPAL1c.1295A>T (p.Lys432Ile)
c.1307A>T (p.Lys436Ile)
c.1514A>T (p.Lys505Ile)
n.479-21837T>A
n.563+22483T>A
c.1532A>T (p.Lys511Ile)
4g.47937187T>CCA356826124CNGA1,NIPAL1c.1295A>G (p.Lys432Arg)
c.1307A>G (p.Lys436Arg)
c.1514A>G (p.Lys505Arg)
n.479-21837T>C
n.563+22483T>C
c.1532A>G (p.Lys511Arg)
4g.47937187T>GCA356826127CNGA1,NIPAL1c.1295A>C (p.Lys432Thr)
c.1307A>C (p.Lys436Thr)
c.1514A>C (p.Lys505Thr)
n.479-21837T>G
n.563+22483T>G
c.1532A>C (p.Lys511Thr)
4g.47937188T>ACA356826129CNGA1,NIPAL1c.1294A>T (p.Lys432Ter)
c.1306A>T (p.Lys436Ter)
c.1513A>T (p.Lys505Ter)
n.479-21836T>A
n.563+22484T>A
c.1531A>T (p.Lys511Ter)
4g.47937188T>CCA356826131CNGA1,NIPAL1c.1294A>G (p.Lys432Glu)
c.1306A>G (p.Lys436Glu)
c.1513A>G (p.Lys505Glu)
n.479-21836T>C
n.563+22484T>C
c.1531A>G (p.Lys511Glu)
4g.47937188T>GCA356826133CNGA1,NIPAL1c.1294A>C (p.Lys432Gln)
c.1306A>C (p.Lys436Gln)
c.1513A>C (p.Lys505Gln)
n.479-21836T>G
n.563+22484T>G
c.1531A>C (p.Lys511Gln)
4g.47937191_47937193dupCA2670552352CNGA1,NIPAL1c.1292_1294dup (p.Ile431_Lys432insIle)
c.1304_1306dup (p.Ile435_Lys436insIle)
c.1511_1513dup (p.Ile504_Lys505insIle)
n.479-21833_479-21831dup
n.563+22487_563+22489dup
c.1529_1531dup (p.Ile510_Lys511insIle)
 gnomAD v4
4g.47937189A>CCA356826135CNGA1,NIPAL1c.1293T>G (p.Ile431Met)
c.1305T>G (p.Ile435Met)
c.1512T>G (p.Ile504Met)
n.479-21835A>C
n.563+22485A>C
c.1530T>G (p.Ile510Met)
4g.47937189A>GCA439404105CNGA1,NIPAL1c.1293T>C (p.Ile431=)
c.1305T>C (p.Ile435=)
c.1512T>C (p.Ile504=)
n.479-21835A>G
n.563+22485A>G
c.1530T>C (p.Ile510=)
4g.47937189A>TCA439404107CNGA1,NIPAL1c.1293T>A (p.Ile431=)
c.1305T>A (p.Ile435=)
c.1512T>A (p.Ile504=)
n.479-21835A>T
n.563+22485A>T
c.1530T>A (p.Ile510=)
4g.47937190A>CCA356826136CNGA1,NIPAL1c.1292T>G (p.Ile431Ser)
c.1304T>G (p.Ile435Ser)
c.1511T>G (p.Ile504Ser)
n.479-21834A>C
n.563+22486A>C
c.1529T>G (p.Ile510Ser)
4g.47937190A>GCA356826138CNGA1,NIPAL1c.1292T>C (p.Ile431Thr)
c.1304T>C (p.Ile435Thr)
c.1511T>C (p.Ile504Thr)
n.479-21834A>G
n.563+22486A>G
c.1529T>C (p.Ile510Thr)
4g.47937190A>TCA356826140CNGA1,NIPAL1c.1292T>A (p.Ile431Asn)
c.1304T>A (p.Ile435Asn)
c.1511T>A (p.Ile504Asn)
n.479-21834A>T
n.563+22486A>T
c.1529T>A (p.Ile510Asn)
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.47937191T>ACA356826146CNGA1,NIPAL1c.1291A>T (p.Ile431Phe)
c.1303A>T (p.Ile435Phe)
c.1510A>T (p.Ile504Phe)
n.479-21833T>A
n.563+22487T>A
c.1528A>T (p.Ile510Phe)
4g.47937191T>CCA356826144CNGA1,NIPAL1c.1291A>G (p.Ile431Val)
c.1303A>G (p.Ile435Val)
c.1510A>G (p.Ile504Val)
n.479-21833T>C
n.563+22487T>C
c.1528A>G (p.Ile510Val)
4g.47937191T>GCA356826142CNGA1,NIPAL1c.1291A>C (p.Ile431Leu)
c.1303A>C (p.Ile435Leu)
c.1510A>C (p.Ile504Leu)
n.479-21833T>G
n.563+22487T>G
c.1528A>C (p.Ile510Leu)
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.47937192A>CCA439404114CNGA1,NIPAL1c.1290T>G (p.Val430=)
c.1302T>G (p.Val434=)
c.1509T>G (p.Val503=)
n.479-21832A>C
n.563+22488A>C
c.1527T>G (p.Val509=)
4g.47937192A>GCA439404110CNGA1,NIPAL1c.1290T>C (p.Val430=)
c.1302T>C (p.Val434=)
c.1509T>C (p.Val503=)
n.479-21832A>G
n.563+22488A>G
c.1527T>C (p.Val509=)
4g.47937192A>TCA439404112CNGA1,NIPAL1c.1290T>A (p.Val430=)
c.1302T>A (p.Val434=)
c.1509T>A (p.Val503=)
n.479-21832A>T
n.563+22488A>T
c.1527T>A (p.Val509=)
4g.47937193A>CCA356826153CNGA1,NIPAL1c.1289T>G (p.Val430Gly)
c.1301T>G (p.Val434Gly)
c.1508T>G (p.Val503Gly)
n.479-21831A>C
n.563+22489A>C
c.1526T>G (p.Val509Gly)
4g.47937193A>GCA356826149CNGA1,NIPAL1c.1289T>C (p.Val430Ala)
c.1301T>C (p.Val434Ala)
c.1508T>C (p.Val503Ala)
n.479-21831A>G
n.563+22489A>G
c.1526T>C (p.Val509Ala)
4g.47937193A>TCA356826151CNGA1,NIPAL1c.1289T>A (p.Val430Asp)
c.1301T>A (p.Val434Asp)
c.1508T>A (p.Val503Asp)
n.479-21831A>T
n.563+22489A>T
c.1526T>A (p.Val509Asp)
4g.47937194C>ACA356826155CNGA1,NIPAL1c.1288G>T (p.Val430Phe)
c.1300G>T (p.Val434Phe)
c.1507G>T (p.Val503Phe)
n.479-21830C>A
n.563+22490C>A
c.1525G>T (p.Val509Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.47937194C=CA1455551872CNGA1,NIPAL1c.1288G= (p.Val430=)
c.1300G= (p.Val434=)
c.1507G= (p.Val503=)
n.479-21830C=
n.563+22490C=
c.1525G= (p.Val509=)
4g.47937194C>GCA356826156CNGA1,NIPAL1c.1288G>C (p.Val430Leu)
c.1300G>C (p.Val434Leu)
c.1507G>C (p.Val503Leu)
n.479-21830C>G
n.563+22490C>G
c.1525G>C (p.Val509Leu)
4g.47937194C>TCA96688817CNGA1,NIPAL1c.1288G>A (p.Val430Ile)
c.1300G>A (p.Val434Ile)
c.1507G>A (p.Val503Ile)
n.479-21830C>T
n.563+22490C>T
c.1525G>A (p.Val509Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47937195C>ACA356826159CNGA1,NIPAL1c.1287G>T (p.Arg429Ser)
c.1299G>T (p.Arg433Ser)
c.1506G>T (p.Arg502Ser)
n.479-21829C>A
n.563+22491C>A
c.1524G>T (p.Arg508Ser)
4g.47937195C=CA1455551873CNGA1,NIPAL1c.1287G= (p.Arg429=)
c.1299G= (p.Arg433=)
c.1506G= (p.Arg502=)
n.479-21829C=
n.563+22491C=
c.1524G= (p.Arg508=)
4g.47937195C>GCA356826161CNGA1,NIPAL1c.1287G>C (p.Arg429Ser)
c.1299G>C (p.Arg433Ser)
c.1506G>C (p.Arg502Ser)
n.479-21829C>G
n.563+22491C>G
c.1524G>C (p.Arg508Ser)
 ClinVar dbSNP gnomAD v4
4g.47937195C>TCA439404120CNGA1,NIPAL1c.1287G>A (p.Arg429=)
c.1299G>A (p.Arg433=)
c.1506G>A (p.Arg502=)
n.479-21829C>T
n.563+22491C>T
c.1524G>A (p.Arg508=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47937196C>ACA96688828CNGA1,NIPAL1c.1286G>T (p.Arg429Met)
c.1298G>T (p.Arg433Met)
c.1505G>T (p.Arg502Met)
n.479-21828C>A
n.563+22492C>A
c.1523G>T (p.Arg508Met)
 dbSNP
4g.47937196C=CA1455551874CNGA1,NIPAL1c.1286G= (p.Arg429=)
c.1298G= (p.Arg433=)
c.1505G= (p.Arg502=)
n.479-21828C=
n.563+22492C=
c.1523G= (p.Arg508=)
4g.47937196C>GCA356826163CNGA1,NIPAL1c.1286G>C (p.Arg429Thr)
c.1298G>C (p.Arg433Thr)
c.1505G>C (p.Arg502Thr)
n.479-21828C>G
n.563+22492C>G
c.1523G>C (p.Arg508Thr)
 dbSNP
4g.47937196C>TCA2911103CNGA1,NIPAL1c.1286G>A (p.Arg429Lys)
c.1298G>A (p.Arg433Lys)
c.1505G>A (p.Arg502Lys)
n.479-21828C>T
n.563+22492C>T
c.1523G>A (p.Arg508Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.47937197T>ACA356826165CNGA1,NIPAL1c.1285A>T (p.Arg429Trp)
c.1297A>T (p.Arg433Trp)
c.1504A>T (p.Arg502Trp)
n.479-21827T>A
n.563+22493T>A
c.1522A>T (p.Arg508Trp)
 ClinVar
4g.47937197T>CCA356826167CNGA1,NIPAL1c.1285A>G (p.Arg429Gly)
c.1297A>G (p.Arg433Gly)
c.1504A>G (p.Arg502Gly)
n.479-21827T>C
n.563+22493T>C
c.1522A>G (p.Arg508Gly)
4g.47937197T>GCA439404122CNGA1,NIPAL1c.1285A>C (p.Arg429=)
c.1297A>C (p.Arg433=)
c.1504A>C (p.Arg502=)
n.479-21827T>G
n.563+22493T>G
c.1522A>C (p.Arg508=)
4g.47937198C>ACA356826169CNGA1,NIPAL1c.1284G>T (p.Lys428Asn)
c.1296G>T (p.Lys432Asn)
c.1503G>T (p.Lys501Asn)
n.479-21826C>A
n.563+22494C>A
c.1521G>T (p.Lys507Asn)
 COSMIC
4g.47937198C>GCA356826171CNGA1,NIPAL1c.1284G>C (p.Lys428Asn)
c.1296G>C (p.Lys432Asn)
c.1503G>C (p.Lys501Asn)
n.479-21826C>G
n.563+22494C>G
c.1521G>C (p.Lys507Asn)
4g.47937198C>TCA439404123CNGA1,NIPAL1c.1284G>A (p.Lys428=)
c.1296G>A (p.Lys432=)
c.1503G>A (p.Lys501=)
n.479-21826C>T
n.563+22494C>T
c.1521G>A (p.Lys507=)
 COSMIC
4g.47937199T>ACA356826172CNGA1,NIPAL1c.1283A>T (p.Lys428Met)
c.1295A>T (p.Lys432Met)
c.1502A>T (p.Lys501Met)
n.479-21825T>A
n.563+22495T>A
c.1520A>T (p.Lys507Met)
4g.47937199T>CCA356826176CNGA1,NIPAL1c.1283A>G (p.Lys428Arg)
c.1295A>G (p.Lys432Arg)
c.1502A>G (p.Lys501Arg)
n.479-21825T>C
n.563+22495T>C
c.1520A>G (p.Lys507Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.47937199T>GCA356826174CNGA1,NIPAL1c.1283A>C (p.Lys428Thr)
c.1295A>C (p.Lys432Thr)
c.1502A>C (p.Lys501Thr)
n.479-21825T>G
n.563+22495T>G
c.1520A>C (p.Lys507Thr)
4g.47937199T=CA1455551875CNGA1,NIPAL1c.1283A= (p.Lys428=)
c.1295A= (p.Lys432=)
c.1502A= (p.Lys501=)
n.479-21825T=
n.563+22495T=
c.1520A= (p.Lys507=)
4g.47937200T>ACA356826178CNGA1,NIPAL1c.1282A>T (p.Lys428Ter)
c.1294A>T (p.Lys432Ter)
c.1501A>T (p.Lys501Ter)
n.479-21824T>A
n.563+22496T>A
c.1519A>T (p.Lys507Ter)
4g.47937200T>CCA356826180CNGA1,NIPAL1c.1282A>G (p.Lys428Glu)
c.1294A>G (p.Lys432Glu)
c.1501A>G (p.Lys501Glu)
n.479-21824T>C
n.563+22496T>C
c.1519A>G (p.Lys507Glu)
4g.47937200T>GCA356826182CNGA1,NIPAL1c.1282A>C (p.Lys428Gln)
c.1294A>C (p.Lys432Gln)
c.1501A>C (p.Lys501Gln)
n.479-21824T>G
n.563+22496T>G
c.1519A>C (p.Lys507Gln)
4g.47937201T>ACA356826185CNGA1,NIPAL1c.1281A>T (p.Glu427Asp)
c.1293A>T (p.Glu431Asp)
c.1500A>T (p.Glu500Asp)
n.479-21823T>A
n.563+22497T>A
c.1518A>T (p.Glu506Asp)
4g.47937201T>CCA439404126CNGA1,NIPAL1c.1281A>G (p.Glu427=)
c.1293A>G (p.Glu431=)
c.1500A>G (p.Glu500=)
n.479-21823T>C
n.563+22497T>C
c.1518A>G (p.Glu506=)
4g.47937201T>GCA356826186CNGA1,NIPAL1c.1281A>C (p.Glu427Asp)
c.1293A>C (p.Glu431Asp)
c.1500A>C (p.Glu500Asp)
n.479-21823T>G
n.563+22497T>G
c.1518A>C (p.Glu506Asp)
4g.47937202T>ACA356826189CNGA1,NIPAL1c.1280A>T (p.Glu427Val)
c.1292A>T (p.Glu431Val)
c.1499A>T (p.Glu500Val)
n.479-21822T>A
n.563+22498T>A
c.1517A>T (p.Glu506Val)
4g.47937202T>CCA356826191CNGA1,NIPAL1c.1280A>G (p.Glu427Gly)
c.1292A>G (p.Glu431Gly)
c.1499A>G (p.Glu500Gly)
n.479-21822T>C
n.563+22498T>C
c.1517A>G (p.Glu506Gly)
4g.47937202T>GCA356826192CNGA1,NIPAL1c.1280A>C (p.Glu427Ala)
c.1292A>C (p.Glu431Ala)
c.1499A>C (p.Glu500Ala)
n.479-21822T>G
n.563+22498T>G
c.1517A>C (p.Glu506Ala)
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)

Number of alleles fetched