Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37020479_37020486delinsAGCCCAGTCA1539619138NIPBLc.5031_5038delinsAGCCCAGT (p.Ile1677=)
c.1-44099_1-44092delinsAGCCCAGT (n.1-44099_1-44092delinsAGCCCAGT)
c.4287_4294delinsAGCCCAGT (p.Ile1429=)
c.4833_4840delinsAGCCCAGT (p.Ile1611=)
c.4650_4657delinsAGCCCAGT (p.Ile1550=)
c.4371_4378delinsAGCCCAGT (p.Ile1457=)
c.3414_3421delinsAGCCCAGT (p.Ile1138=)
c.3405_3412delinsAGCCCAGT (p.Ile1135=)
5g.37020481_37020487delCA272131NIPBLc.5033_5039del (p.Ala1678GlyfsTer13)
c.1-44097_1-44091del (n.1-44097_1-44091del)
c.4289_4295del (p.Ala1430GlyfsTer13)
c.4835_4841del (p.Ala1612GlyfsTer13)
c.4652_4658del (p.Ala1551GlyfsTer13)
c.4373_4379del (p.Ala1458GlyfsTer13)
c.3416_3422del (p.Ala1139GlyfsTer13)
c.3407_3413del (p.Ala1136GlyfsTer13)
 ClinVar dbSNP
5g.37020486T>ACA359486378NIPBLc.5038T>A (p.Trp1680Arg)
c.1-44092T>A (n.1-44092T>A)
c.4294T>A (p.Trp1432Arg)
c.4840T>A (p.Trp1614Arg)
c.4657T>A (p.Trp1553Arg)
c.4378T>A (p.Trp1460Arg)
c.3421T>A (p.Trp1141Arg)
c.3412T>A (p.Trp1138Arg)
5g.37020486T>CCA359486380NIPBLc.5038T>C (p.Trp1680Arg)
c.1-44092T>C (n.1-44092T>C)
c.4294T>C (p.Trp1432Arg)
c.4840T>C (p.Trp1614Arg)
c.4657T>C (p.Trp1553Arg)
c.4378T>C (p.Trp1460Arg)
c.3421T>C (p.Trp1141Arg)
c.3412T>C (p.Trp1138Arg)
5g.37020486T>GCA359486382NIPBLc.5038T>G (p.Trp1680Gly)
c.1-44092T>G (n.1-44092T>G)
c.4294T>G (p.Trp1432Gly)
c.4840T>G (p.Trp1614Gly)
c.4657T>G (p.Trp1553Gly)
c.4378T>G (p.Trp1460Gly)
c.3421T>G (p.Trp1141Gly)
c.3412T>G (p.Trp1138Gly)
5g.37020487G>ACA359486389NIPBLc.5039G>A (p.Trp1680Ter)
c.1-44091G>A (n.1-44091G>A)
c.4295G>A (p.Trp1432Ter)
c.4841G>A (p.Trp1614Ter)
c.4658G>A (p.Trp1553Ter)
c.4379G>A (p.Trp1460Ter)
c.3422G>A (p.Trp1141Ter)
c.3413G>A (p.Trp1138Ter)
5g.37020487G>CCA359486390NIPBLc.5039G>C (p.Trp1680Ser)
c.1-44091G>C (n.1-44091G>C)
c.4295G>C (p.Trp1432Ser)
c.4841G>C (p.Trp1614Ser)
c.4658G>C (p.Trp1553Ser)
c.4379G>C (p.Trp1460Ser)
c.3422G>C (p.Trp1141Ser)
c.3413G>C (p.Trp1138Ser)
5g.37020487G>TCA359486387NIPBLc.5039G>T (p.Trp1680Leu)
c.1-44091G>T (n.1-44091G>T)
c.4295G>T (p.Trp1432Leu)
c.4841G>T (p.Trp1614Leu)
c.4658G>T (p.Trp1553Leu)
c.4379G>T (p.Trp1460Leu)
c.3422G>T (p.Trp1141Leu)
c.3413G>T (p.Trp1138Leu)
5g.37020488G>ACA359486393NIPBLc.5040G>A (p.Trp1680Ter)
c.1-44090G>A (n.1-44090G>A)
c.4296G>A (p.Trp1432Ter)
c.4842G>A (p.Trp1614Ter)
c.4659G>A (p.Trp1553Ter)
c.4380G>A (p.Trp1460Ter)
c.3423G>A (p.Trp1141Ter)
c.3414G>A (p.Trp1138Ter)
5g.37020488G>CCA359486395NIPBLc.5040G>C (p.Trp1680Cys)
c.1-44090G>C (n.1-44090G>C)
c.4296G>C (p.Trp1432Cys)
c.4842G>C (p.Trp1614Cys)
c.4659G>C (p.Trp1553Cys)
c.4380G>C (p.Trp1460Cys)
c.3423G>C (p.Trp1141Cys)
c.3414G>C (p.Trp1138Cys)
5g.37020488G>TCA359486397NIPBLc.5040G>T (p.Trp1680Cys)
c.1-44090G>T (n.1-44090G>T)
c.4296G>T (p.Trp1432Cys)
c.4842G>T (p.Trp1614Cys)
c.4659G>T (p.Trp1553Cys)
c.4380G>T (p.Trp1460Cys)
c.3423G>T (p.Trp1141Cys)
c.3414G>T (p.Trp1138Cys)
5g.37020489T>ACA359486400NIPBLc.5041T>A (p.Phe1681Ile)
c.1-44089T>A (n.1-44089T>A)
c.4297T>A (p.Phe1433Ile)
c.4843T>A (p.Phe1615Ile)
c.4660T>A (p.Phe1554Ile)
c.4381T>A (p.Phe1461Ile)
c.3424T>A (p.Phe1142Ile)
c.3415T>A (p.Phe1139Ile)
5g.37020489T>CCA359486401NIPBLc.5041T>C (p.Phe1681Leu)
c.1-44089T>C (n.1-44089T>C)
c.4297T>C (p.Phe1433Leu)
c.4843T>C (p.Phe1615Leu)
c.4660T>C (p.Phe1554Leu)
c.4381T>C (p.Phe1461Leu)
c.3424T>C (p.Phe1142Leu)
c.3415T>C (p.Phe1139Leu)
5g.37020489T>GCA359486403NIPBLc.5041T>G (p.Phe1681Val)
c.1-44089T>G (n.1-44089T>G)
c.4297T>G (p.Phe1433Val)
c.4843T>G (p.Phe1615Val)
c.4660T>G (p.Phe1554Val)
c.4381T>G (p.Phe1461Val)
c.3424T>G (p.Phe1142Val)
c.3415T>G (p.Phe1139Val)
5g.37020490T>ACA359486406NIPBLc.5042T>A (p.Phe1681Tyr)
c.1-44088T>A (n.1-44088T>A)
c.4298T>A (p.Phe1433Tyr)
c.4844T>A (p.Phe1615Tyr)
c.4661T>A (p.Phe1554Tyr)
c.4382T>A (p.Phe1461Tyr)
c.3425T>A (p.Phe1142Tyr)
c.3416T>A (p.Phe1139Tyr)
5g.37020490T>CCA359486411NIPBLc.5042T>C (p.Phe1681Ser)
c.1-44088T>C (n.1-44088T>C)
c.4298T>C (p.Phe1433Ser)
c.4844T>C (p.Phe1615Ser)
c.4661T>C (p.Phe1554Ser)
c.4382T>C (p.Phe1461Ser)
c.3425T>C (p.Phe1142Ser)
c.3416T>C (p.Phe1139Ser)
5g.37020490T>GCA359486409NIPBLc.5042T>G (p.Phe1681Cys)
c.1-44088T>G (n.1-44088T>G)
c.4298T>G (p.Phe1433Cys)
c.4844T>G (p.Phe1615Cys)
c.4661T>G (p.Phe1554Cys)
c.4382T>G (p.Phe1461Cys)
c.3425T>G (p.Phe1142Cys)
c.3416T>G (p.Phe1139Cys)
5g.37020491T>ACA359486412NIPBLc.5043T>A (p.Phe1681Leu)
c.1-44087T>A (n.1-44087T>A)
c.4299T>A (p.Phe1433Leu)
c.4845T>A (p.Phe1615Leu)
c.4662T>A (p.Phe1554Leu)
c.4383T>A (p.Phe1461Leu)
c.3426T>A (p.Phe1142Leu)
c.3417T>A (p.Phe1139Leu)
5g.37020491T>CCA443904913NIPBLc.5043T>C (p.Phe1681=)
c.1-44087T>C (n.1-44087T>C)
c.4299T>C (p.Phe1433=)
c.4845T>C (p.Phe1615=)
c.4662T>C (p.Phe1554=)
c.4383T>C (p.Phe1461=)
c.3426T>C (p.Phe1142=)
c.3417T>C (p.Phe1139=)
5g.37020491T>GCA359486414NIPBLc.5043T>G (p.Phe1681Leu)
c.1-44087T>G (n.1-44087T>G)
c.4299T>G (p.Phe1433Leu)
c.4845T>G (p.Phe1615Leu)
c.4662T>G (p.Phe1554Leu)
c.4383T>G (p.Phe1461Leu)
c.3426T>G (p.Phe1142Leu)
c.3417T>G (p.Phe1139Leu)
5g.37020492C>ACA443904914NIPBLc.5044C>A (p.Arg1682=)
c.1-44086C>A (n.1-44086C>A)
c.4300C>A (p.Arg1434=)
c.4846C>A (p.Arg1616=)
c.4663C>A (p.Arg1555=)
c.4384C>A (p.Arg1462=)
c.3427C>A (p.Arg1143=)
c.3418C>A (p.Arg1140=)
 gnomAD v4
5g.37020492C=CA1539619150NIPBLc.5044C= (p.Arg1682=)
c.1-44086C= (n.1-44086C=)
c.4300C= (p.Arg1434=)
c.4846C= (p.Arg1616=)
c.4663C= (p.Arg1555=)
c.4384C= (p.Arg1462=)
c.3427C= (p.Arg1143=)
c.3418C= (p.Arg1140=)
5g.37020492C>GCA359486415NIPBLc.5044C>G (p.Arg1682Gly)
c.1-44086C>G (n.1-44086C>G)
c.4300C>G (p.Arg1434Gly)
c.4846C>G (p.Arg1616Gly)
c.4663C>G (p.Arg1555Gly)
c.4384C>G (p.Arg1462Gly)
c.3427C>G (p.Arg1143Gly)
c.3418C>G (p.Arg1140Gly)
 ClinVar
5g.37020492C>TCA277162NIPBLc.5044C>T (p.Arg1682Ter)
c.1-44086C>T (n.1-44086C>T)
c.4300C>T (p.Arg1434Ter)
c.4846C>T (p.Arg1616Ter)
c.4663C>T (p.Arg1555Ter)
c.4384C>T (p.Arg1462Ter)
c.3427C>T (p.Arg1143Ter)
c.3418C>T (p.Arg1140Ter)
 ClinVar dbSNP COSMIC COSMIC
5g.37020493G>ACA359486418NIPBLc.5045G>A (p.Arg1682Gln)
c.1-44085G>A (n.1-44085G>A)
c.4301G>A (p.Arg1434Gln)
c.4847G>A (p.Arg1616Gln)
c.4664G>A (p.Arg1555Gln)
c.4385G>A (p.Arg1462Gln)
c.3428G>A (p.Arg1143Gln)
c.3419G>A (p.Arg1140Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.37020493G>CCA359486423NIPBLc.5045G>C (p.Arg1682Pro)
c.1-44085G>C (n.1-44085G>C)
c.4301G>C (p.Arg1434Pro)
c.4847G>C (p.Arg1616Pro)
c.4664G>C (p.Arg1555Pro)
c.4385G>C (p.Arg1462Pro)
c.3428G>C (p.Arg1143Pro)
c.3419G>C (p.Arg1140Pro)
5g.37020493G=CA1539619159NIPBLc.5045G= (p.Arg1682=)
c.1-44085G= (n.1-44085G=)
c.4301G= (p.Arg1434=)
c.4847G= (p.Arg1616=)
c.4664G= (p.Arg1555=)
c.4385G= (p.Arg1462=)
c.3428G= (p.Arg1143=)
c.3419G= (p.Arg1140=)
5g.37020493G>TCA359486420NIPBLc.5045G>T (p.Arg1682Leu)
c.1-44085G>T (n.1-44085G>T)
c.4301G>T (p.Arg1434Leu)
c.4847G>T (p.Arg1616Leu)
c.4664G>T (p.Arg1555Leu)
c.4385G>T (p.Arg1462Leu)
c.3428G>T (p.Arg1143Leu)
c.3419G>T (p.Arg1140Leu)
 gnomAD v4
5g.37020494A=CA1539619164NIPBLc.5046A= (p.Arg1682=)
c.1-44084A= (n.1-44084A=)
c.4302A= (p.Arg1434=)
c.4848A= (p.Arg1616=)
c.4665A= (p.Arg1555=)
c.4386A= (p.Arg1462=)
c.3429A= (p.Arg1143=)
c.3420A= (p.Arg1140=)
5g.37020494A>CCA443904915NIPBLc.5046A>C (p.Arg1682=)
c.1-44084A>C (n.1-44084A>C)
c.4302A>C (p.Arg1434=)
c.4848A>C (p.Arg1616=)
c.4665A>C (p.Arg1555=)
c.4386A>C (p.Arg1462=)
c.3429A>C (p.Arg1143=)
c.3420A>C (p.Arg1140=)
5g.37020494A>GCA443904916NIPBLc.5046A>G (p.Arg1682=)
c.1-44084A>G (n.1-44084A>G)
c.4302A>G (p.Arg1434=)
c.4848A>G (p.Arg1616=)
c.4665A>G (p.Arg1555=)
c.4386A>G (p.Arg1462=)
c.3429A>G (p.Arg1143=)
c.3420A>G (p.Arg1140=)
 dbSNP
5g.37020494A>TCA443904917NIPBLc.5046A>T (p.Arg1682=)
c.1-44084A>T (n.1-44084A>T)
c.4302A>T (p.Arg1434=)
c.4848A>T (p.Arg1616=)
c.4665A>T (p.Arg1555=)
c.4386A>T (p.Arg1462=)
c.3429A>T (p.Arg1143=)
c.3420A>T (p.Arg1140=)
5g.37020494_37020495insTGCA277377NIPBLc.5046_5047insTG (p.Asp1683TrpfsTer11)
c.1-44084_1-44083insTG (n.1-44084_1-44083insTG)
c.4302_4303insTG (p.Asp1435TrpfsTer11)
c.4848_4849insTG (p.Asp1617TrpfsTer11)
c.4665_4666insTG (p.Asp1556TrpfsTer11)
c.4386_4387insTG (p.Asp1463TrpfsTer11)
c.3429_3430insTG (p.Asp1144TrpfsTer11)
c.3420_3421insTG (p.Asp1141TrpfsTer11)
 ClinVar dbSNP
5g.37020495G>ACA359486430NIPBLc.5047G>A (p.Asp1683Asn)
c.1-44083G>A (n.1-44083G>A)
c.4303G>A (p.Asp1435Asn)
c.4849G>A (p.Asp1617Asn)
c.4666G>A (p.Asp1556Asn)
c.4387G>A (p.Asp1463Asn)
c.3430G>A (p.Asp1144Asn)
c.3421G>A (p.Asp1141Asn)
 COSMIC COSMIC
5g.37020495G>CCA359486433NIPBLc.5047G>C (p.Asp1683His)
c.1-44083G>C (n.1-44083G>C)
c.4303G>C (p.Asp1435His)
c.4849G>C (p.Asp1617His)
c.4666G>C (p.Asp1556His)
c.4387G>C (p.Asp1463His)
c.3430G>C (p.Asp1144His)
c.3421G>C (p.Asp1141His)
5g.37020495G>TCA359486429NIPBLc.5047G>T (p.Asp1683Tyr)
c.1-44083G>T (n.1-44083G>T)
c.4303G>T (p.Asp1435Tyr)
c.4849G>T (p.Asp1617Tyr)
c.4666G>T (p.Asp1556Tyr)
c.4387G>T (p.Asp1463Tyr)
c.3430G>T (p.Asp1144Tyr)
c.3421G>T (p.Asp1141Tyr)
5g.37020496A>CCA359486435NIPBLc.5048A>C (p.Asp1683Ala)
c.1-44082A>C (n.1-44082A>C)
c.4304A>C (p.Asp1435Ala)
c.4850A>C (p.Asp1617Ala)
c.4667A>C (p.Asp1556Ala)
c.4388A>C (p.Asp1463Ala)
c.3431A>C (p.Asp1144Ala)
c.3422A>C (p.Asp1141Ala)
5g.37020496A>GCA359486437NIPBLc.5048A>G (p.Asp1683Gly)
c.1-44082A>G (n.1-44082A>G)
c.4304A>G (p.Asp1435Gly)
c.4850A>G (p.Asp1617Gly)
c.4667A>G (p.Asp1556Gly)
c.4388A>G (p.Asp1463Gly)
c.3431A>G (p.Asp1144Gly)
c.3422A>G (p.Asp1141Gly)
5g.37020496A>TCA359486438NIPBLc.5048A>T (p.Asp1683Val)
c.1-44082A>T (n.1-44082A>T)
c.4304A>T (p.Asp1435Val)
c.4850A>T (p.Asp1617Val)
c.4667A>T (p.Asp1556Val)
c.4388A>T (p.Asp1463Val)
c.3431A>T (p.Asp1144Val)
c.3422A>T (p.Asp1141Val)
5g.37020499_37020500delCA2695204345NIPBLc.5051_5052del (p.Thr1684AsnfsTer14)
c.1-44079_1-44078del (n.1-44079_1-44078del)
c.4307_4308del (p.Thr1436AsnfsTer14)
c.4853_4854del (p.Thr1618AsnfsTer14)
c.4670_4671del (p.Thr1557AsnfsTer14)
c.4391_4392del (p.Thr1464AsnfsTer14)
c.3434_3435del (p.Thr1145AsnfsTer14)
c.3425_3426del (p.Thr1142AsnfsTer14)
5g.37020497C>ACA359486441NIPBLc.5049C>A (p.Asp1683Glu)
c.1-44081C>A (n.1-44081C>A)
c.4305C>A (p.Asp1435Glu)
c.4851C>A (p.Asp1617Glu)
c.4668C>A (p.Asp1556Glu)
c.4389C>A (p.Asp1463Glu)
c.3432C>A (p.Asp1144Glu)
c.3423C>A (p.Asp1141Glu)
5g.37020497C>GCA359486443NIPBLc.5049C>G (p.Asp1683Glu)
c.1-44081C>G (n.1-44081C>G)
c.4305C>G (p.Asp1435Glu)
c.4851C>G (p.Asp1617Glu)
c.4668C>G (p.Asp1556Glu)
c.4389C>G (p.Asp1463Glu)
c.3432C>G (p.Asp1144Glu)
c.3423C>G (p.Asp1141Glu)
5g.37020497C>TCA443904921NIPBLc.5049C>T (p.Asp1683=)
c.1-44081C>T (n.1-44081C>T)
c.4305C>T (p.Asp1435=)
c.4851C>T (p.Asp1617=)
c.4668C>T (p.Asp1556=)
c.4389C>T (p.Asp1463=)
c.3432C>T (p.Asp1144=)
c.3423C>T (p.Asp1141=)
 gnomAD v4
5g.37020498A>CCA359486446NIPBLc.5050A>C (p.Thr1684Pro)
c.1-44080A>C (n.1-44080A>C)
c.4306A>C (p.Thr1436Pro)
c.4852A>C (p.Thr1618Pro)
c.4669A>C (p.Thr1557Pro)
c.4390A>C (p.Thr1464Pro)
c.3433A>C (p.Thr1145Pro)
c.3424A>C (p.Thr1142Pro)
5g.37020498A>GCA359486448NIPBLc.5050A>G (p.Thr1684Ala)
c.1-44080A>G (n.1-44080A>G)
c.4306A>G (p.Thr1436Ala)
c.4852A>G (p.Thr1618Ala)
c.4669A>G (p.Thr1557Ala)
c.4390A>G (p.Thr1464Ala)
c.3433A>G (p.Thr1145Ala)
c.3424A>G (p.Thr1142Ala)
 gnomAD v4
5g.37020498A>TCA359486450NIPBLc.5050A>T (p.Thr1684Ser)
c.1-44080A>T (n.1-44080A>T)
c.4306A>T (p.Thr1436Ser)
c.4852A>T (p.Thr1618Ser)
c.4669A>T (p.Thr1557Ser)
c.4390A>T (p.Thr1464Ser)
c.3433A>T (p.Thr1145Ser)
c.3424A>T (p.Thr1142Ser)
5g.37020499C>ACA117027932NIPBLc.5051C>A (p.Thr1684Lys)
c.1-44079C>A (n.1-44079C>A)
c.4307C>A (p.Thr1436Lys)
c.4853C>A (p.Thr1618Lys)
c.4670C>A (p.Thr1557Lys)
c.4391C>A (p.Thr1464Lys)
c.3434C>A (p.Thr1145Lys)
c.3425C>A (p.Thr1142Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020499C=CA1539619177NIPBLc.5051C= (p.Thr1684=)
c.1-44079C= (n.1-44079C=)
c.4307C= (p.Thr1436=)
c.4853C= (p.Thr1618=)
c.4670C= (p.Thr1557=)
c.4391C= (p.Thr1464=)
c.3434C= (p.Thr1145=)
c.3425C= (p.Thr1142=)
5g.37020499C>GCA359486459NIPBLc.5051C>G (p.Thr1684Arg)
c.1-44079C>G (n.1-44079C>G)
c.4307C>G (p.Thr1436Arg)
c.4853C>G (p.Thr1618Arg)
c.4670C>G (p.Thr1557Arg)
c.4391C>G (p.Thr1464Arg)
c.3434C>G (p.Thr1145Arg)
c.3425C>G (p.Thr1142Arg)
5g.37020499C>TCA10581364NIPBLc.5051C>T (p.Thr1684Ile)
c.1-44079C>T (n.1-44079C>T)
c.4307C>T (p.Thr1436Ile)
c.4853C>T (p.Thr1618Ile)
c.4670C>T (p.Thr1557Ile)
c.4391C>T (p.Thr1464Ile)
c.3434C>T (p.Thr1145Ile)
c.3425C>T (p.Thr1142Ile)
 ClinVar dbSNP gnomAD v4
5g.37020500A=CA1539619184NIPBLc.5052A= (p.Thr1684=)
c.1-44078A= (n.1-44078A=)
c.4308A= (p.Thr1436=)
c.4854A= (p.Thr1618=)
c.4671A= (p.Thr1557=)
c.4392A= (p.Thr1464=)
c.3435A= (p.Thr1145=)
c.3426A= (p.Thr1142=)
5g.37020500A>CCA443904922NIPBLc.5052A>C (p.Thr1684=)
c.1-44078A>C (n.1-44078A>C)
c.4308A>C (p.Thr1436=)
c.4854A>C (p.Thr1618=)
c.4671A>C (p.Thr1557=)
c.4392A>C (p.Thr1464=)
c.3435A>C (p.Thr1145=)
c.3426A>C (p.Thr1142=)
5g.37020500A>GCA3236693NIPBLc.5052A>G (p.Thr1684=)
c.1-44078A>G (n.1-44078A>G)
c.4308A>G (p.Thr1436=)
c.4854A>G (p.Thr1618=)
c.4671A>G (p.Thr1557=)
c.4392A>G (p.Thr1464=)
c.3435A>G (p.Thr1145=)
c.3426A>G (p.Thr1142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020500A>TCA443904923NIPBLc.5052A>T (p.Thr1684=)
c.1-44078A>T (n.1-44078A>T)
c.4308A>T (p.Thr1436=)
c.4854A>T (p.Thr1618=)
c.4671A>T (p.Thr1557=)
c.4392A>T (p.Thr1464=)
c.3435A>T (p.Thr1145=)
c.3426A>T (p.Thr1142=)
5g.37020501A>CCA359486465NIPBLc.5053A>C (p.Thr1685Pro)
c.1-44077A>C (n.1-44077A>C)
c.4309A>C (p.Thr1437Pro)
c.4855A>C (p.Thr1619Pro)
c.4672A>C (p.Thr1558Pro)
c.4393A>C (p.Thr1465Pro)
c.3436A>C (p.Thr1146Pro)
c.3427A>C (p.Thr1143Pro)
 gnomAD v4
5g.37020501A>GCA359486468NIPBLc.5053A>G (p.Thr1685Ala)
c.1-44077A>G (n.1-44077A>G)
c.4309A>G (p.Thr1437Ala)
c.4855A>G (p.Thr1619Ala)
c.4672A>G (p.Thr1558Ala)
c.4393A>G (p.Thr1465Ala)
c.3436A>G (p.Thr1146Ala)
c.3427A>G (p.Thr1143Ala)
 gnomAD v4
5g.37020501A>TCA359486470NIPBLc.5053A>T (p.Thr1685Ser)
c.1-44077A>T (n.1-44077A>T)
c.4309A>T (p.Thr1437Ser)
c.4855A>T (p.Thr1619Ser)
c.4672A>T (p.Thr1558Ser)
c.4393A>T (p.Thr1465Ser)
c.3436A>T (p.Thr1146Ser)
c.3427A>T (p.Thr1143Ser)
5g.37020502C>ACA359486473NIPBLc.5054C>A (p.Thr1685Asn)
c.1-44076C>A (n.1-44076C>A)
c.4310C>A (p.Thr1437Asn)
c.4856C>A (p.Thr1619Asn)
c.4673C>A (p.Thr1558Asn)
c.4394C>A (p.Thr1465Asn)
c.3437C>A (p.Thr1146Asn)
c.3428C>A (p.Thr1143Asn)
5g.37020502C=CA1539619187NIPBLc.5054C= (p.Thr1685=)
c.1-44076C= (n.1-44076C=)
c.4310C= (p.Thr1437=)
c.4856C= (p.Thr1619=)
c.4673C= (p.Thr1558=)
c.4394C= (p.Thr1465=)
c.3437C= (p.Thr1146=)
c.3428C= (p.Thr1143=)
5g.37020502C>GCA359486475NIPBLc.5054C>G (p.Thr1685Ser)
c.1-44076C>G (n.1-44076C>G)
c.4310C>G (p.Thr1437Ser)
c.4856C>G (p.Thr1619Ser)
c.4673C>G (p.Thr1558Ser)
c.4394C>G (p.Thr1465Ser)
c.3437C>G (p.Thr1146Ser)
c.3428C>G (p.Thr1143Ser)
5g.37020502C>TCA3236694NIPBLc.5054C>T (p.Thr1685Ile)
c.1-44076C>T (n.1-44076C>T)
c.4310C>T (p.Thr1437Ile)
c.4856C>T (p.Thr1619Ile)
c.4673C>T (p.Thr1558Ile)
c.4394C>T (p.Thr1465Ile)
c.3437C>T (p.Thr1146Ile)
c.3428C>T (p.Thr1143Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020503T>ACA443904925NIPBLc.5055T>A (p.Thr1685=)
c.1-44075T>A (n.1-44075T>A)
c.4311T>A (p.Thr1437=)
c.4857T>A (p.Thr1619=)
c.4674T>A (p.Thr1558=)
c.4395T>A (p.Thr1465=)
c.3438T>A (p.Thr1146=)
c.3429T>A (p.Thr1143=)
5g.37020503T>CCA443904926NIPBLc.5055T>C (p.Thr1685=)
c.1-44075T>C (n.1-44075T>C)
c.4311T>C (p.Thr1437=)
c.4857T>C (p.Thr1619=)
c.4674T>C (p.Thr1558=)
c.4395T>C (p.Thr1465=)
c.3438T>C (p.Thr1146=)
c.3429T>C (p.Thr1143=)
5g.37020503T>GCA443904927NIPBLc.5055T>G (p.Thr1685=)
c.1-44075T>G (n.1-44075T>G)
c.4311T>G (p.Thr1437=)
c.4857T>G (p.Thr1619=)
c.4674T>G (p.Thr1558=)
c.4395T>G (p.Thr1465=)
c.3438T>G (p.Thr1146=)
c.3429T>G (p.Thr1143=)
 dbSNP gnomAD v3 gnomAD v4
5g.37020503T=CA1539619195NIPBLc.5055T= (p.Thr1685=)
c.1-44075T= (n.1-44075T=)
c.4311T= (p.Thr1437=)
c.4857T= (p.Thr1619=)
c.4674T= (p.Thr1558=)
c.4395T= (p.Thr1465=)
c.3438T= (p.Thr1146=)
c.3429T= (p.Thr1143=)
5g.37020504C>ACA359486481NIPBLc.5056C>A (p.Leu1686Met)
c.1-44074C>A (n.1-44074C>A)
c.4312C>A (p.Leu1438Met)
c.4858C>A (p.Leu1620Met)
c.4675C>A (p.Leu1559Met)
c.4396C>A (p.Leu1466Met)
c.3439C>A (p.Leu1147Met)
c.3430C>A (p.Leu1144Met)
5g.37020504C=CA1539619198NIPBLc.5056C= (p.Leu1686=)
c.1-44074C= (n.1-44074C=)
c.4312C= (p.Leu1438=)
c.4858C= (p.Leu1620=)
c.4675C= (p.Leu1559=)
c.4396C= (p.Leu1466=)
c.3439C= (p.Leu1147=)
c.3430C= (p.Leu1144=)
5g.37020504C>GCA359486484NIPBLc.5056C>G (p.Leu1686Val)
c.1-44074C>G (n.1-44074C>G)
c.4312C>G (p.Leu1438Val)
c.4858C>G (p.Leu1620Val)
c.4675C>G (p.Leu1559Val)
c.4396C>G (p.Leu1466Val)
c.3439C>G (p.Leu1147Val)
c.3430C>G (p.Leu1144Val)
 gnomAD v4
5g.37020504C>TCA3236695NIPBLc.5056C>T (p.Leu1686=)
c.1-44074C>T (n.1-44074C>T)
c.4312C>T (p.Leu1438=)
c.4858C>T (p.Leu1620=)
c.4675C>T (p.Leu1559=)
c.4396C>T (p.Leu1466=)
c.3439C>T (p.Leu1147=)
c.3430C>T (p.Leu1144=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020505T>ACA359486490NIPBLc.5057T>A (p.Leu1686Gln)
c.1-44073T>A (n.1-44073T>A)
c.4313T>A (p.Leu1438Gln)
c.4859T>A (p.Leu1620Gln)
c.4676T>A (p.Leu1559Gln)
c.4397T>A (p.Leu1466Gln)
c.3440T>A (p.Leu1147Gln)
c.3431T>A (p.Leu1144Gln)
5g.37020505T>CCA359486493NIPBLc.5057T>C (p.Leu1686Pro)
c.1-44073T>C (n.1-44073T>C)
c.4313T>C (p.Leu1438Pro)
c.4859T>C (p.Leu1620Pro)
c.4676T>C (p.Leu1559Pro)
c.4397T>C (p.Leu1466Pro)
c.3440T>C (p.Leu1147Pro)
c.3431T>C (p.Leu1144Pro)
 gnomAD v4
5g.37020505T>GCA359486496NIPBLc.5057T>G (p.Leu1686Arg)
c.1-44073T>G (n.1-44073T>G)
c.4313T>G (p.Leu1438Arg)
c.4859T>G (p.Leu1620Arg)
c.4676T>G (p.Leu1559Arg)
c.4397T>G (p.Leu1466Arg)
c.3440T>G (p.Leu1147Arg)
c.3431T>G (p.Leu1144Arg)
5g.37020506G>ACA443904933NIPBLc.5058G>A (p.Leu1686=)
c.1-44072G>A (n.1-44072G>A)
c.4314G>A (p.Leu1438=)
c.4860G>A (p.Leu1620=)
c.4677G>A (p.Leu1559=)
c.4398G>A (p.Leu1466=)
c.3441G>A (p.Leu1147=)
c.3432G>A (p.Leu1144=)
5g.37020506G>CCA443904932NIPBLc.5058G>C (p.Leu1686=)
c.1-44072G>C (n.1-44072G>C)
c.4314G>C (p.Leu1438=)
c.4860G>C (p.Leu1620=)
c.4677G>C (p.Leu1559=)
c.4398G>C (p.Leu1466=)
c.3441G>C (p.Leu1147=)
c.3432G>C (p.Leu1144=)
5g.37020506G>TCA443904931NIPBLc.5058G>T (p.Leu1686=)
c.1-44072G>T (n.1-44072G>T)
c.4314G>T (p.Leu1438=)
c.4860G>T (p.Leu1620=)
c.4677G>T (p.Leu1559=)
c.4398G>T (p.Leu1466=)
c.3441G>T (p.Leu1147=)
c.3432G>T (p.Leu1144=)
5g.37020507G>ACA359486501NIPBLc.5059G>A (p.Glu1687Lys)
c.1-44071G>A (n.1-44071G>A)
c.4315G>A (p.Glu1439Lys)
c.4861G>A (p.Glu1621Lys)
c.4678G>A (p.Glu1560Lys)
c.4399G>A (p.Glu1467Lys)
c.3442G>A (p.Glu1148Lys)
c.3433G>A (p.Glu1145Lys)
5g.37020507G>CCA359486505NIPBLc.5059G>C (p.Glu1687Gln)
c.1-44071G>C (n.1-44071G>C)
c.4315G>C (p.Glu1439Gln)
c.4861G>C (p.Glu1621Gln)
c.4678G>C (p.Glu1560Gln)
c.4399G>C (p.Glu1467Gln)
c.3442G>C (p.Glu1148Gln)
c.3433G>C (p.Glu1145Gln)
5g.37020507G>TCA359486499NIPBLc.5059G>T (p.Glu1687Ter)
c.1-44071G>T (n.1-44071G>T)
c.4315G>T (p.Glu1439Ter)
c.4861G>T (p.Glu1621Ter)
c.4678G>T (p.Glu1560Ter)
c.4399G>T (p.Glu1467Ter)
c.3442G>T (p.Glu1148Ter)
c.3433G>T (p.Glu1145Ter)
5g.37020508A=CA1539619201NIPBLc.5060A= (p.Glu1687=)
c.1-44070A= (n.1-44070A=)
c.4316A= (p.Glu1439=)
c.4862A= (p.Glu1621=)
c.4679A= (p.Glu1560=)
c.4400A= (p.Glu1467=)
c.3443A= (p.Glu1148=)
c.3434A= (p.Glu1145=)
5g.37020508A>CCA359486508NIPBLc.5060A>C (p.Glu1687Ala)
c.1-44070A>C (n.1-44070A>C)
c.4316A>C (p.Glu1439Ala)
c.4862A>C (p.Glu1621Ala)
c.4679A>C (p.Glu1560Ala)
c.4400A>C (p.Glu1467Ala)
c.3443A>C (p.Glu1148Ala)
c.3434A>C (p.Glu1145Ala)
5g.37020508A>GCA117027962NIPBLc.5060A>G (p.Glu1687Gly)
c.1-44070A>G (n.1-44070A>G)
c.4316A>G (p.Glu1439Gly)
c.4862A>G (p.Glu1621Gly)
c.4679A>G (p.Glu1560Gly)
c.4400A>G (p.Glu1467Gly)
c.3443A>G (p.Glu1148Gly)
c.3434A>G (p.Glu1145Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.37020508A>TCA359486511NIPBLc.5060A>T (p.Glu1687Val)
c.1-44070A>T (n.1-44070A>T)
c.4316A>T (p.Glu1439Val)
c.4862A>T (p.Glu1621Val)
c.4679A>T (p.Glu1560Val)
c.4400A>T (p.Glu1467Val)
c.3443A>T (p.Glu1148Val)
c.3434A>T (p.Glu1145Val)
5g.37020509A=CA1539619203NIPBLc.5061A= (p.Glu1687=)
c.1-44069A= (n.1-44069A=)
c.4317A= (p.Glu1439=)
c.4863A= (p.Glu1621=)
c.4680A= (p.Glu1560=)
c.4401A= (p.Glu1467=)
c.3444A= (p.Glu1148=)
c.3435A= (p.Glu1145=)
5g.37020509A>CCA359486514NIPBLc.5061A>C (p.Glu1687Asp)
c.1-44069A>C (n.1-44069A>C)
c.4317A>C (p.Glu1439Asp)
c.4863A>C (p.Glu1621Asp)
c.4680A>C (p.Glu1560Asp)
c.4401A>C (p.Glu1467Asp)
c.3444A>C (p.Glu1148Asp)
c.3435A>C (p.Glu1145Asp)
5g.37020509A>GCA443904935NIPBLc.5061A>G (p.Glu1687=)
c.1-44069A>G (n.1-44069A>G)
c.4317A>G (p.Glu1439=)
c.4863A>G (p.Glu1621=)
c.4680A>G (p.Glu1560=)
c.4401A>G (p.Glu1467=)
c.3444A>G (p.Glu1148=)
c.3435A>G (p.Glu1145=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020509A>TCA359486517NIPBLc.5061A>T (p.Glu1687Asp)
c.1-44069A>T (n.1-44069A>T)
c.4317A>T (p.Glu1439Asp)
c.4863A>T (p.Glu1621Asp)
c.4680A>T (p.Glu1560Asp)
c.4401A>T (p.Glu1467Asp)
c.3444A>T (p.Glu1148Asp)
c.3435A>T (p.Glu1145Asp)
5g.37020510A=CA1539619206NIPBLc.5062A= (p.Thr1688=)
c.1-44068A= (n.1-44068A=)
c.4318A= (p.Thr1440=)
c.4864A= (p.Thr1622=)
c.4681A= (p.Thr1561=)
c.4402A= (p.Thr1468=)
c.3445A= (p.Thr1149=)
c.3436A= (p.Thr1146=)
5g.37020510A>CCA359486527NIPBLc.5062A>C (p.Thr1688Pro)
c.1-44068A>C (n.1-44068A>C)
c.4318A>C (p.Thr1440Pro)
c.4864A>C (p.Thr1622Pro)
c.4681A>C (p.Thr1561Pro)
c.4402A>C (p.Thr1468Pro)
c.3445A>C (p.Thr1149Pro)
c.3436A>C (p.Thr1146Pro)
5g.37020510A>GCA359486524NIPBLc.5062A>G (p.Thr1688Ala)
c.1-44068A>G (n.1-44068A>G)
c.4318A>G (p.Thr1440Ala)
c.4864A>G (p.Thr1622Ala)
c.4681A>G (p.Thr1561Ala)
c.4402A>G (p.Thr1468Ala)
c.3445A>G (p.Thr1149Ala)
c.3436A>G (p.Thr1146Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.37020510A>TCA359486521NIPBLc.5062A>T (p.Thr1688Ser)
c.1-44068A>T (n.1-44068A>T)
c.4318A>T (p.Thr1440Ser)
c.4864A>T (p.Thr1622Ser)
c.4681A>T (p.Thr1561Ser)
c.4402A>T (p.Thr1468Ser)
c.3445A>T (p.Thr1149Ser)
c.3436A>T (p.Thr1146Ser)
5g.37020511C>ACA359486529NIPBLc.5063C>A (p.Thr1688Lys)
c.1-44067C>A (n.1-44067C>A)
c.4319C>A (p.Thr1440Lys)
c.4865C>A (p.Thr1622Lys)
c.4682C>A (p.Thr1561Lys)
c.4403C>A (p.Thr1468Lys)
c.3446C>A (p.Thr1149Lys)
c.3437C>A (p.Thr1146Lys)
5g.37020511C=CA1539619210NIPBLc.5063C= (p.Thr1688=)
c.1-44067C= (n.1-44067C=)
c.4319C= (p.Thr1440=)
c.4865C= (p.Thr1622=)
c.4682C= (p.Thr1561=)
c.4403C= (p.Thr1468=)
c.3446C= (p.Thr1149=)
c.3437C= (p.Thr1146=)
5g.37020511C>GCA359486532NIPBLc.5063C>G (p.Thr1688Arg)
c.1-44067C>G (n.1-44067C>G)
c.4319C>G (p.Thr1440Arg)
c.4865C>G (p.Thr1622Arg)
c.4682C>G (p.Thr1561Arg)
c.4403C>G (p.Thr1468Arg)
c.3446C>G (p.Thr1149Arg)
c.3437C>G (p.Thr1146Arg)
5g.37020511C>TCA3236696NIPBLc.5063C>T (p.Thr1688Ile)
c.1-44067C>T (n.1-44067C>T)
c.4319C>T (p.Thr1440Ile)
c.4865C>T (p.Thr1622Ile)
c.4682C>T (p.Thr1561Ile)
c.4403C>T (p.Thr1468Ile)
c.3446C>T (p.Thr1149Ile)
c.3437C>T (p.Thr1146Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020512A>CCA443904939NIPBLc.5064A>C (p.Thr1688=)
c.1-44066A>C (n.1-44066A>C)
c.4320A>C (p.Thr1440=)
c.4866A>C (p.Thr1622=)
c.4683A>C (p.Thr1561=)
c.4404A>C (p.Thr1468=)
c.3447A>C (p.Thr1149=)
c.3438A>C (p.Thr1146=)
5g.37020512A>GCA443904940NIPBLc.5064A>G (p.Thr1688=)
c.1-44066A>G (n.1-44066A>G)
c.4320A>G (p.Thr1440=)
c.4866A>G (p.Thr1622=)
c.4683A>G (p.Thr1561=)
c.4404A>G (p.Thr1468=)
c.3447A>G (p.Thr1149=)
c.3438A>G (p.Thr1146=)
5g.37020512A>TCA443904941NIPBLc.5064A>T (p.Thr1688=)
c.1-44066A>T (n.1-44066A>T)
c.4320A>T (p.Thr1440=)
c.4866A>T (p.Thr1622=)
c.4683A>T (p.Thr1561=)
c.4404A>T (p.Thr1468=)
c.3447A>T (p.Thr1149=)
c.3438A>T (p.Thr1146=)
5g.37020513G>ACA359486538NIPBLc.5065G>A (p.Glu1689Lys)
c.1-44065G>A (n.1-44065G>A)
c.4321G>A (p.Glu1441Lys)
c.4867G>A (p.Glu1623Lys)
c.4684G>A (p.Glu1562Lys)
c.4405G>A (p.Glu1469Lys)
c.3448G>A (p.Glu1150Lys)
c.3439G>A (p.Glu1147Lys)
5g.37020513G>CCA359486540NIPBLc.5065G>C (p.Glu1689Gln)
c.1-44065G>C (n.1-44065G>C)
c.4321G>C (p.Glu1441Gln)
c.4867G>C (p.Glu1623Gln)
c.4684G>C (p.Glu1562Gln)
c.4405G>C (p.Glu1469Gln)
c.3448G>C (p.Glu1150Gln)
c.3439G>C (p.Glu1147Gln)
5g.37020513G>TCA359486543NIPBLc.5065G>T (p.Glu1689Ter)
c.1-44065G>T (n.1-44065G>T)
c.4321G>T (p.Glu1441Ter)
c.4867G>T (p.Glu1623Ter)
c.4684G>T (p.Glu1562Ter)
c.4405G>T (p.Glu1469Ter)
c.3448G>T (p.Glu1150Ter)
c.3439G>T (p.Glu1147Ter)
5g.37020514A>CCA359486545NIPBLc.5066A>C (p.Glu1689Ala)
c.1-44064A>C (n.1-44064A>C)
c.4322A>C (p.Glu1441Ala)
c.4868A>C (p.Glu1623Ala)
c.4685A>C (p.Glu1562Ala)
c.4406A>C (p.Glu1469Ala)
c.3449A>C (p.Glu1150Ala)
c.3440A>C (p.Glu1147Ala)
5g.37020514A>GCA359486551NIPBLc.5066A>G (p.Glu1689Gly)
c.1-44064A>G (n.1-44064A>G)
c.4322A>G (p.Glu1441Gly)
c.4868A>G (p.Glu1623Gly)
c.4685A>G (p.Glu1562Gly)
c.4406A>G (p.Glu1469Gly)
c.3449A>G (p.Glu1150Gly)
c.3440A>G (p.Glu1147Gly)
5g.37020514A>TCA359486548NIPBLc.5066A>T (p.Glu1689Val)
c.1-44064A>T (n.1-44064A>T)
c.4322A>T (p.Glu1441Val)
c.4868A>T (p.Glu1623Val)
c.4685A>T (p.Glu1562Val)
c.4406A>T (p.Glu1469Val)
c.3449A>T (p.Glu1150Val)
c.3440A>T (p.Glu1147Val)
5g.37020515A=CA1539619213NIPBLc.5067A= (p.Glu1689=)
c.1-44063A= (n.1-44063A=)
c.4323A= (p.Glu1441=)
c.4869A= (p.Glu1623=)
c.4686A= (p.Glu1562=)
c.4407A= (p.Glu1469=)
c.3450A= (p.Glu1150=)
c.3441A= (p.Glu1147=)
5g.37020515A>CCA359486553NIPBLc.5067A>C (p.Glu1689Asp)
c.1-44063A>C (n.1-44063A>C)
c.4323A>C (p.Glu1441Asp)
c.4869A>C (p.Glu1623Asp)
c.4686A>C (p.Glu1562Asp)
c.4407A>C (p.Glu1469Asp)
c.3450A>C (p.Glu1150Asp)
c.3441A>C (p.Glu1147Asp)
5g.37020515A>GCA3236697NIPBLc.5067A>G (p.Glu1689=)
c.1-44063A>G (n.1-44063A>G)
c.4323A>G (p.Glu1441=)
c.4869A>G (p.Glu1623=)
c.4686A>G (p.Glu1562=)
c.4407A>G (p.Glu1469=)
c.3450A>G (p.Glu1150=)
c.3441A>G (p.Glu1147=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020515A>TCA359486555NIPBLc.5067A>T (p.Glu1689Asp)
c.1-44063A>T (n.1-44063A>T)
c.4323A>T (p.Glu1441Asp)
c.4869A>T (p.Glu1623Asp)
c.4686A>T (p.Glu1562Asp)
c.4407A>T (p.Glu1469Asp)
c.3450A>T (p.Glu1150Asp)
c.3441A>T (p.Glu1147Asp)
5g.37020516A>CCA359486558NIPBLc.5068A>C (p.Lys1690Gln)
c.1-44062A>C (n.1-44062A>C)
c.4324A>C (p.Lys1442Gln)
c.4870A>C (p.Lys1624Gln)
c.4687A>C (p.Lys1563Gln)
c.4408A>C (p.Lys1470Gln)
c.3451A>C (p.Lys1151Gln)
c.3442A>C (p.Lys1148Gln)
5g.37020516A>GCA359486561NIPBLc.5068A>G (p.Lys1690Glu)
c.1-44062A>G (n.1-44062A>G)
c.4324A>G (p.Lys1442Glu)
c.4870A>G (p.Lys1624Glu)
c.4687A>G (p.Lys1563Glu)
c.4408A>G (p.Lys1470Glu)
c.3451A>G (p.Lys1151Glu)
c.3442A>G (p.Lys1148Glu)
5g.37020516A>TCA359486563NIPBLc.5068A>T (p.Lys1690Ter)
c.1-44062A>T (n.1-44062A>T)
c.4324A>T (p.Lys1442Ter)
c.4870A>T (p.Lys1624Ter)
c.4687A>T (p.Lys1563Ter)
c.4408A>T (p.Lys1470Ter)
c.3451A>T (p.Lys1151Ter)
c.3442A>T (p.Lys1148Ter)
5g.37020517A>CCA359486567NIPBLc.5069A>C (p.Lys1690Thr)
c.1-44061A>C (n.1-44061A>C)
c.4325A>C (p.Lys1442Thr)
c.4871A>C (p.Lys1624Thr)
c.4688A>C (p.Lys1563Thr)
c.4409A>C (p.Lys1470Thr)
c.3452A>C (p.Lys1151Thr)
c.3443A>C (p.Lys1148Thr)
5g.37020517A>GCA359486568NIPBLc.5069A>G (p.Lys1690Arg)
c.1-44061A>G (n.1-44061A>G)
c.4325A>G (p.Lys1442Arg)
c.4871A>G (p.Lys1624Arg)
c.4688A>G (p.Lys1563Arg)
c.4409A>G (p.Lys1470Arg)
c.3452A>G (p.Lys1151Arg)
c.3443A>G (p.Lys1148Arg)
 COSMIC
5g.37020517A>TCA359486571NIPBLc.5069A>T (p.Lys1690Ile)
c.1-44061A>T (n.1-44061A>T)
c.4325A>T (p.Lys1442Ile)
c.4871A>T (p.Lys1624Ile)
c.4688A>T (p.Lys1563Ile)
c.4409A>T (p.Lys1470Ile)
c.3452A>T (p.Lys1151Ile)
c.3443A>T (p.Lys1148Ile)
5g.37020518A>CCA359486574NIPBLc.5070A>C (p.Lys1690Asn)
c.1-44060A>C (n.1-44060A>C)
c.4326A>C (p.Lys1442Asn)
c.4872A>C (p.Lys1624Asn)
c.4689A>C (p.Lys1563Asn)
c.4410A>C (p.Lys1470Asn)
c.3453A>C (p.Lys1151Asn)
c.3444A>C (p.Lys1148Asn)
5g.37020518A>GCA443904946NIPBLc.5070A>G (p.Lys1690=)
c.1-44060A>G (n.1-44060A>G)
c.4326A>G (p.Lys1442=)
c.4872A>G (p.Lys1624=)
c.4689A>G (p.Lys1563=)
c.4410A>G (p.Lys1470=)
c.3453A>G (p.Lys1151=)
c.3444A>G (p.Lys1148=)
5g.37020518A>TCA359486576NIPBLc.5070A>T (p.Lys1690Asn)
c.1-44060A>T (n.1-44060A>T)
c.4326A>T (p.Lys1442Asn)
c.4872A>T (p.Lys1624Asn)
c.4689A>T (p.Lys1563Asn)
c.4410A>T (p.Lys1470Asn)
c.3453A>T (p.Lys1151Asn)
c.3444A>T (p.Lys1148Asn)
5g.37020519G>ACA359486578NIPBLc.5071G>A (p.Ala1691Thr)
c.1-44059G>A (n.1-44059G>A)
c.4327G>A (p.Ala1443Thr)
c.4873G>A (p.Ala1625Thr)
c.4690G>A (p.Ala1564Thr)
c.4411G>A (p.Ala1471Thr)
c.3454G>A (p.Ala1152Thr)
c.3445G>A (p.Ala1149Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.37020519G>CCA359486582NIPBLc.5071G>C (p.Ala1691Pro)
c.1-44059G>C (n.1-44059G>C)
c.4327G>C (p.Ala1443Pro)
c.4873G>C (p.Ala1625Pro)
c.4690G>C (p.Ala1564Pro)
c.4411G>C (p.Ala1471Pro)
c.3454G>C (p.Ala1152Pro)
c.3445G>C (p.Ala1149Pro)
5g.37020519G=CA1539619216NIPBLc.5071G= (p.Ala1691=)
c.1-44059G= (n.1-44059G=)
c.4327G= (p.Ala1443=)
c.4873G= (p.Ala1625=)
c.4690G= (p.Ala1564=)
c.4411G= (p.Ala1471=)
c.3454G= (p.Ala1152=)
c.3445G= (p.Ala1149=)
5g.37020519G>TCA359486580NIPBLc.5071G>T (p.Ala1691Ser)
c.1-44059G>T (n.1-44059G>T)
c.4327G>T (p.Ala1443Ser)
c.4873G>T (p.Ala1625Ser)
c.4690G>T (p.Ala1564Ser)
c.4411G>T (p.Ala1471Ser)
c.3454G>T (p.Ala1152Ser)
c.3445G>T (p.Ala1149Ser)
 COSMIC COSMIC
5g.37020520C>ACA359486590NIPBLc.5072C>A (p.Ala1691Glu)
c.1-44058C>A (n.1-44058C>A)
c.4328C>A (p.Ala1443Glu)
c.4874C>A (p.Ala1625Glu)
c.4691C>A (p.Ala1564Glu)
c.4412C>A (p.Ala1471Glu)
c.3455C>A (p.Ala1152Glu)
c.3446C>A (p.Ala1149Glu)
5g.37020520C>GCA359486594NIPBLc.5072C>G (p.Ala1691Gly)
c.1-44058C>G (n.1-44058C>G)
c.4328C>G (p.Ala1443Gly)
c.4874C>G (p.Ala1625Gly)
c.4691C>G (p.Ala1564Gly)
c.4412C>G (p.Ala1471Gly)
c.3455C>G (p.Ala1152Gly)
c.3446C>G (p.Ala1149Gly)
5g.37020520C>TCA359486591NIPBLc.5072C>T (p.Ala1691Val)
c.1-44058C>T (n.1-44058C>T)
c.4328C>T (p.Ala1443Val)
c.4874C>T (p.Ala1625Val)
c.4691C>T (p.Ala1564Val)
c.4412C>T (p.Ala1471Val)
c.3455C>T (p.Ala1152Val)
c.3446C>T (p.Ala1149Val)
5g.37020521A>CCA443904949NIPBLc.5073A>C (p.Ala1691=)
c.1-44057A>C (n.1-44057A>C)
c.4329A>C (p.Ala1443=)
c.4875A>C (p.Ala1625=)
c.4692A>C (p.Ala1564=)
c.4413A>C (p.Ala1471=)
c.3456A>C (p.Ala1152=)
c.3447A>C (p.Ala1149=)
5g.37020521A>GCA443904950NIPBLc.5073A>G (p.Ala1691=)
c.1-44057A>G (n.1-44057A>G)
c.4329A>G (p.Ala1443=)
c.4875A>G (p.Ala1625=)
c.4692A>G (p.Ala1564=)
c.4413A>G (p.Ala1471=)
c.3456A>G (p.Ala1152=)
c.3447A>G (p.Ala1149=)
5g.37020521A>TCA443904951NIPBLc.5073A>T (p.Ala1691=)
c.1-44057A>T (n.1-44057A>T)
c.4329A>T (p.Ala1443=)
c.4875A>T (p.Ala1625=)
c.4692A>T (p.Ala1564=)
c.4413A>T (p.Ala1471=)
c.3456A>T (p.Ala1152=)
c.3447A>T (p.Ala1149=)
5g.37020522A=CA1539619219NIPBLc.5074A= (p.Met1692=)
c.1-44056A= (n.1-44056A=)
c.4330A= (p.Met1444=)
c.4876A= (p.Met1626=)
c.4693A= (p.Met1565=)
c.4414A= (p.Met1472=)
c.3457A= (p.Met1153=)
c.3448A= (p.Met1150=)
5g.37020522A>CCA359486597NIPBLc.5074A>C (p.Met1692Leu)
c.1-44056A>C (n.1-44056A>C)
c.4330A>C (p.Met1444Leu)
c.4876A>C (p.Met1626Leu)
c.4693A>C (p.Met1565Leu)
c.4414A>C (p.Met1472Leu)
c.3457A>C (p.Met1153Leu)
c.3448A>C (p.Met1150Leu)
5g.37020522A>GCA359486601NIPBLc.5074A>G (p.Met1692Val)
c.1-44056A>G (n.1-44056A>G)
c.4330A>G (p.Met1444Val)
c.4876A>G (p.Met1626Val)
c.4693A>G (p.Met1565Val)
c.4414A>G (p.Met1472Val)
c.3457A>G (p.Met1153Val)
c.3448A>G (p.Met1150Val)
 dbSNP gnomAD v3 gnomAD v4
5g.37020522A>TCA359486599NIPBLc.5074A>T (p.Met1692Leu)
c.1-44056A>T (n.1-44056A>T)
c.4330A>T (p.Met1444Leu)
c.4876A>T (p.Met1626Leu)
c.4693A>T (p.Met1565Leu)
c.4414A>T (p.Met1472Leu)
c.3457A>T (p.Met1153Leu)
c.3448A>T (p.Met1150Leu)
5g.37020523T>ACA359486603NIPBLc.5075T>A (p.Met1692Lys)
c.1-44055T>A (n.1-44055T>A)
c.4331T>A (p.Met1444Lys)
c.4877T>A (p.Met1626Lys)
c.4694T>A (p.Met1565Lys)
c.4415T>A (p.Met1472Lys)
c.3458T>A (p.Met1153Lys)
c.3449T>A (p.Met1150Lys)
5g.37020523T>CCA359486609NIPBLc.5075T>C (p.Met1692Thr)
c.1-44055T>C (n.1-44055T>C)
c.4331T>C (p.Met1444Thr)
c.4877T>C (p.Met1626Thr)
c.4694T>C (p.Met1565Thr)
c.4415T>C (p.Met1472Thr)
c.3458T>C (p.Met1153Thr)
c.3449T>C (p.Met1150Thr)
5g.37020523T>GCA359486606NIPBLc.5075T>G (p.Met1692Arg)
c.1-44055T>G (n.1-44055T>G)
c.4331T>G (p.Met1444Arg)
c.4877T>G (p.Met1626Arg)
c.4694T>G (p.Met1565Arg)
c.4415T>G (p.Met1472Arg)
c.3458T>G (p.Met1153Arg)
c.3449T>G (p.Met1150Arg)
5g.37020524G>ACA359486612NIPBLc.5076G>A (p.Met1692Ile)
c.1-44054G>A (n.1-44054G>A)
c.4332G>A (p.Met1444Ile)
c.4878G>A (p.Met1626Ile)
c.4695G>A (p.Met1565Ile)
c.4416G>A (p.Met1472Ile)
c.3459G>A (p.Met1153Ile)
c.3450G>A (p.Met1150Ile)
 COSMIC COSMIC
5g.37020524G>CCA359486615NIPBLc.5076G>C (p.Met1692Ile)
c.1-44054G>C (n.1-44054G>C)
c.4332G>C (p.Met1444Ile)
c.4878G>C (p.Met1626Ile)
c.4695G>C (p.Met1565Ile)
c.4416G>C (p.Met1472Ile)
c.3459G>C (p.Met1153Ile)
c.3450G>C (p.Met1150Ile)
5g.37020524G=CA1539619221NIPBLc.5076G= (p.Met1692=)
c.1-44054G= (n.1-44054G=)
c.4332G= (p.Met1444=)
c.4878G= (p.Met1626=)
c.4695G= (p.Met1565=)
c.4416G= (p.Met1472=)
c.3459G= (p.Met1153=)
c.3450G= (p.Met1150=)
5g.37020524G>TCA359486613NIPBLc.5076G>T (p.Met1692Ile)
c.1-44054G>T (n.1-44054G>T)
c.4332G>T (p.Met1444Ile)
c.4878G>T (p.Met1626Ile)
c.4695G>T (p.Met1565Ile)
c.4416G>T (p.Met1472Ile)
c.3459G>T (p.Met1153Ile)
c.3450G>T (p.Met1150Ile)
 dbSNP
5g.37020525A>CCA359486619NIPBLc.5077A>C (p.Lys1693Gln)
c.1-44053A>C (n.1-44053A>C)
c.4333A>C (p.Lys1445Gln)
c.4879A>C (p.Lys1627Gln)
c.4696A>C (p.Lys1566Gln)
c.4417A>C (p.Lys1473Gln)
c.3460A>C (p.Lys1154Gln)
c.3451A>C (p.Lys1151Gln)
5g.37020525A>GCA359486622NIPBLc.5077A>G (p.Lys1693Glu)
c.1-44053A>G (n.1-44053A>G)
c.4333A>G (p.Lys1445Glu)
c.4879A>G (p.Lys1627Glu)
c.4696A>G (p.Lys1566Glu)
c.4417A>G (p.Lys1473Glu)
c.3460A>G (p.Lys1154Glu)
c.3451A>G (p.Lys1151Glu)
5g.37020525A>TCA359486623NIPBLc.5077A>T (p.Lys1693Ter)
c.1-44053A>T (n.1-44053A>T)
c.4333A>T (p.Lys1445Ter)
c.4879A>T (p.Lys1627Ter)
c.4696A>T (p.Lys1566Ter)
c.4417A>T (p.Lys1473Ter)
c.3460A>T (p.Lys1154Ter)
c.3451A>T (p.Lys1151Ter)
5g.37020526A>CCA359486626NIPBLc.5078A>C (p.Lys1693Thr)
c.1-44052A>C (n.1-44052A>C)
c.4334A>C (p.Lys1445Thr)
c.4880A>C (p.Lys1627Thr)
c.4697A>C (p.Lys1566Thr)
c.4418A>C (p.Lys1473Thr)
c.3461A>C (p.Lys1154Thr)
c.3452A>C (p.Lys1151Thr)
5g.37020526A>GCA359486629NIPBLc.5078A>G (p.Lys1693Arg)
c.1-44052A>G (n.1-44052A>G)
c.4334A>G (p.Lys1445Arg)
c.4880A>G (p.Lys1627Arg)
c.4697A>G (p.Lys1566Arg)
c.4418A>G (p.Lys1473Arg)
c.3461A>G (p.Lys1154Arg)
c.3452A>G (p.Lys1151Arg)
 gnomAD v4
5g.37020526A>TCA359486631NIPBLc.5078A>T (p.Lys1693Ile)
c.1-44052A>T (n.1-44052A>T)
c.4334A>T (p.Lys1445Ile)
c.4880A>T (p.Lys1627Ile)
c.4697A>T (p.Lys1566Ile)
c.4418A>T (p.Lys1473Ile)
c.3461A>T (p.Lys1154Ile)
c.3452A>T (p.Lys1151Ile)
5g.37020527A=CA1539619223NIPBLc.5079A= (p.Lys1693=)
c.1-44051A= (n.1-44051A=)
c.4335A= (p.Lys1445=)
c.4881A= (p.Lys1627=)
c.4698A= (p.Lys1566=)
c.4419A= (p.Lys1473=)
c.3462A= (p.Lys1154=)
c.3453A= (p.Lys1151=)
5g.37020527A>CCA359486635NIPBLc.5079A>C (p.Lys1693Asn)
c.1-44051A>C (n.1-44051A>C)
c.4335A>C (p.Lys1445Asn)
c.4881A>C (p.Lys1627Asn)
c.4698A>C (p.Lys1566Asn)
c.4419A>C (p.Lys1473Asn)
c.3462A>C (p.Lys1154Asn)
c.3453A>C (p.Lys1151Asn)
 dbSNP
5g.37020527A>GCA443904957NIPBLc.5079A>G (p.Lys1693=)
c.1-44051A>G (n.1-44051A>G)
c.4335A>G (p.Lys1445=)
c.4881A>G (p.Lys1627=)
c.4698A>G (p.Lys1566=)
c.4419A>G (p.Lys1473=)
c.3462A>G (p.Lys1154=)
c.3453A>G (p.Lys1151=)
5g.37020527A>TCA359486638NIPBLc.5079A>T (p.Lys1693Asn)
c.1-44051A>T (n.1-44051A>T)
c.4335A>T (p.Lys1445Asn)
c.4881A>T (p.Lys1627Asn)
c.4698A>T (p.Lys1566Asn)
c.4419A>T (p.Lys1473Asn)
c.3462A>T (p.Lys1154Asn)
c.3453A>T (p.Lys1151Asn)
5g.37020528T>ACA359486641NIPBLc.5080T>A (p.Ser1694Thr)
c.1-44050T>A (n.1-44050T>A)
c.4336T>A (p.Ser1446Thr)
c.4882T>A (p.Ser1628Thr)
c.4699T>A (p.Ser1567Thr)
c.4420T>A (p.Ser1474Thr)
c.3463T>A (p.Ser1155Thr)
c.3454T>A (p.Ser1152Thr)
5g.37020528T>CCA359486643NIPBLc.5080T>C (p.Ser1694Pro)
c.1-44050T>C (n.1-44050T>C)
c.4336T>C (p.Ser1446Pro)
c.4882T>C (p.Ser1628Pro)
c.4699T>C (p.Ser1567Pro)
c.4420T>C (p.Ser1474Pro)
c.3463T>C (p.Ser1155Pro)
c.3454T>C (p.Ser1152Pro)
5g.37020528T>GCA359486646NIPBLc.5080T>G (p.Ser1694Ala)
c.1-44050T>G (n.1-44050T>G)
c.4336T>G (p.Ser1446Ala)
c.4882T>G (p.Ser1628Ala)
c.4699T>G (p.Ser1567Ala)
c.4420T>G (p.Ser1474Ala)
c.3463T>G (p.Ser1155Ala)
c.3454T>G (p.Ser1152Ala)
 gnomAD v4
5g.37020529C>ACA359486654NIPBLc.5081C>A (p.Ser1694Ter)
c.1-44049C>A (n.1-44049C>A)
c.4337C>A (p.Ser1446Ter)
c.4883C>A (p.Ser1628Ter)
c.4700C>A (p.Ser1567Ter)
c.4421C>A (p.Ser1474Ter)
c.3464C>A (p.Ser1155Ter)
c.3455C>A (p.Ser1152Ter)
5g.37020529C>GCA359486652NIPBLc.5081C>G (p.Ser1694Ter)
c.1-44049C>G (n.1-44049C>G)
c.4337C>G (p.Ser1446Ter)
c.4883C>G (p.Ser1628Ter)
c.4700C>G (p.Ser1567Ter)
c.4421C>G (p.Ser1474Ter)
c.3464C>G (p.Ser1155Ter)
c.3455C>G (p.Ser1152Ter)
5g.37020529C>TCA359486650NIPBLc.5081C>T (p.Ser1694Leu)
c.1-44049C>T (n.1-44049C>T)
c.4337C>T (p.Ser1446Leu)
c.4883C>T (p.Ser1628Leu)
c.4700C>T (p.Ser1567Leu)
c.4421C>T (p.Ser1474Leu)
c.3464C>T (p.Ser1155Leu)
c.3455C>T (p.Ser1152Leu)
5g.37020530A>CCA443904960NIPBLc.5082A>C (p.Ser1694=)
c.1-44048A>C (n.1-44048A>C)
c.4338A>C (p.Ser1446=)
c.4884A>C (p.Ser1628=)
c.4701A>C (p.Ser1567=)
c.4422A>C (p.Ser1474=)
c.3465A>C (p.Ser1155=)
c.3456A>C (p.Ser1152=)
5g.37020530A>GCA443904961NIPBLc.5082A>G (p.Ser1694=)
c.1-44048A>G (n.1-44048A>G)
c.4338A>G (p.Ser1446=)
c.4884A>G (p.Ser1628=)
c.4701A>G (p.Ser1567=)
c.4422A>G (p.Ser1474=)
c.3465A>G (p.Ser1155=)
c.3456A>G (p.Ser1152=)
5g.37020530A>TCA443904963NIPBLc.5082A>T (p.Ser1694=)
c.1-44048A>T (n.1-44048A>T)
c.4338A>T (p.Ser1446=)
c.4884A>T (p.Ser1628=)
c.4701A>T (p.Ser1567=)
c.4422A>T (p.Ser1474=)
c.3465A>T (p.Ser1155=)
c.3456A>T (p.Ser1152=)
5g.37020531C>ACA359486657NIPBLc.5083C>A (p.Gln1695Lys)
c.1-44047C>A (n.1-44047C>A)
c.4339C>A (p.Gln1447Lys)
c.4885C>A (p.Gln1629Lys)
c.4702C>A (p.Gln1568Lys)
c.4423C>A (p.Gln1475Lys)
c.3466C>A (p.Gln1156Lys)
c.3457C>A (p.Gln1153Lys)
 gnomAD v4
5g.37020531C>GCA359486659NIPBLc.5083C>G (p.Gln1695Glu)
c.1-44047C>G (n.1-44047C>G)
c.4339C>G (p.Gln1447Glu)
c.4885C>G (p.Gln1629Glu)
c.4702C>G (p.Gln1568Glu)
c.4423C>G (p.Gln1475Glu)
c.3466C>G (p.Gln1156Glu)
c.3457C>G (p.Gln1153Glu)
5g.37020531C>TCA359486661NIPBLc.5083C>T (p.Gln1695Ter)
c.1-44047C>T (n.1-44047C>T)
c.4339C>T (p.Gln1447Ter)
c.4885C>T (p.Gln1629Ter)
c.4702C>T (p.Gln1568Ter)
c.4423C>T (p.Gln1475Ter)
c.3466C>T (p.Gln1156Ter)
c.3457C>T (p.Gln1153Ter)
5g.37020532A>CCA359486665NIPBLc.5084A>C (p.Gln1695Pro)
c.1-44046A>C (n.1-44046A>C)
c.4340A>C (p.Gln1447Pro)
c.4886A>C (p.Gln1629Pro)
c.4703A>C (p.Gln1568Pro)
c.4424A>C (p.Gln1475Pro)
c.3467A>C (p.Gln1156Pro)
c.3458A>C (p.Gln1153Pro)
5g.37020532A>GCA359486667NIPBLc.5084A>G (p.Gln1695Arg)
c.1-44046A>G (n.1-44046A>G)
c.4340A>G (p.Gln1447Arg)
c.4886A>G (p.Gln1629Arg)
c.4703A>G (p.Gln1568Arg)
c.4424A>G (p.Gln1475Arg)
c.3467A>G (p.Gln1156Arg)
c.3458A>G (p.Gln1153Arg)
5g.37020532A>TCA359486670NIPBLc.5084A>T (p.Gln1695Leu)
c.1-44046A>T (n.1-44046A>T)
c.4340A>T (p.Gln1447Leu)
c.4886A>T (p.Gln1629Leu)
c.4703A>T (p.Gln1568Leu)
c.4424A>T (p.Gln1475Leu)
c.3467A>T (p.Gln1156Leu)
c.3458A>T (p.Gln1153Leu)
5g.37020535_37020536delCA2580073212NIPBLc.5087_5088del (p.Lys1696ArgfsTer2)
c.1-44043_1-44042del (n.1-44043_1-44042del)
c.4343_4344del (p.Lys1448ArgfsTer2)
c.4889_4890del (p.Lys1630ArgfsTer2)
c.4706_4707del (p.Lys1569ArgfsTer2)
c.4427_4428del (p.Lys1476ArgfsTer2)
c.3470_3471del (p.Lys1157ArgfsTer2)
c.3461_3462del (p.Lys1154ArgfsTer2)
 ClinVar
5g.37020533A=CA1539619225NIPBLc.5085A= (p.Gln1695=)
c.1-44045A= (n.1-44045A=)
c.4341A= (p.Gln1447=)
c.4887A= (p.Gln1629=)
c.4704A= (p.Gln1568=)
c.4425A= (p.Gln1475=)
c.3468A= (p.Gln1156=)
c.3459A= (p.Gln1153=)
5g.37020533A>CCA359486671NIPBLc.5085A>C (p.Gln1695His)
c.1-44045A>C (n.1-44045A>C)
c.4341A>C (p.Gln1447His)
c.4887A>C (p.Gln1629His)
c.4704A>C (p.Gln1568His)
c.4425A>C (p.Gln1475His)
c.3468A>C (p.Gln1156His)
c.3459A>C (p.Gln1153His)
 ClinVar
5g.37020533A>GCA117027973NIPBLc.5085A>G (p.Gln1695=)
c.1-44045A>G (n.1-44045A>G)
c.4341A>G (p.Gln1447=)
c.4887A>G (p.Gln1629=)
c.4704A>G (p.Gln1568=)
c.4425A>G (p.Gln1475=)
c.3468A>G (p.Gln1156=)
c.3459A>G (p.Gln1153=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020533A>TCA359486672NIPBLc.5085A>T (p.Gln1695His)
c.1-44045A>T (n.1-44045A>T)
c.4341A>T (p.Gln1447His)
c.4887A>T (p.Gln1629His)
c.4704A>T (p.Gln1568His)
c.4425A>T (p.Gln1475His)
c.3468A>T (p.Gln1156His)
c.3459A>T (p.Gln1153His)
5g.37020534A>CCA359486673NIPBLc.5086A>C (p.Lys1696Gln)
c.1-44044A>C (n.1-44044A>C)
c.4342A>C (p.Lys1448Gln)
c.4888A>C (p.Lys1630Gln)
c.4705A>C (p.Lys1569Gln)
c.4426A>C (p.Lys1476Gln)
c.3469A>C (p.Lys1157Gln)
c.3460A>C (p.Lys1154Gln)
5g.37020534A>GCA359486675NIPBLc.5086A>G (p.Lys1696Glu)
c.1-44044A>G (n.1-44044A>G)
c.4342A>G (p.Lys1448Glu)
c.4888A>G (p.Lys1630Glu)
c.4705A>G (p.Lys1569Glu)
c.4426A>G (p.Lys1476Glu)
c.3469A>G (p.Lys1157Glu)
c.3460A>G (p.Lys1154Glu)
5g.37020534A>TCA359486677NIPBLc.5086A>T (p.Lys1696Ter)
c.1-44044A>T (n.1-44044A>T)
c.4342A>T (p.Lys1448Ter)
c.4888A>T (p.Lys1630Ter)
c.4705A>T (p.Lys1569Ter)
c.4426A>T (p.Lys1476Ter)
c.3469A>T (p.Lys1157Ter)
c.3460A>T (p.Lys1154Ter)
5g.37020535A=CA1539619227NIPBLc.5087A= (p.Lys1696=)
c.1-44043A= (n.1-44043A=)
c.4343A= (p.Lys1448=)
c.4889A= (p.Lys1630=)
c.4706A= (p.Lys1569=)
c.4427A= (p.Lys1476=)
c.3470A= (p.Lys1157=)
c.3461A= (p.Lys1154=)
5g.37020535A>CCA359486684NIPBLc.5087A>C (p.Lys1696Thr)
c.1-44043A>C (n.1-44043A>C)
c.4343A>C (p.Lys1448Thr)
c.4889A>C (p.Lys1630Thr)
c.4706A>C (p.Lys1569Thr)
c.4427A>C (p.Lys1476Thr)
c.3470A>C (p.Lys1157Thr)
c.3461A>C (p.Lys1154Thr)
5g.37020535A>GCA3236698NIPBLc.5087A>G (p.Lys1696Arg)
c.1-44043A>G (n.1-44043A>G)
c.4343A>G (p.Lys1448Arg)
c.4889A>G (p.Lys1630Arg)
c.4706A>G (p.Lys1569Arg)
c.4427A>G (p.Lys1476Arg)
c.3470A>G (p.Lys1157Arg)
c.3461A>G (p.Lys1154Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020535A>TCA359486679NIPBLc.5087A>T (p.Lys1696Ile)
c.1-44043A>T (n.1-44043A>T)
c.4343A>T (p.Lys1448Ile)
c.4889A>T (p.Lys1630Ile)
c.4706A>T (p.Lys1569Ile)
c.4427A>T (p.Lys1476Ile)
c.3470A>T (p.Lys1157Ile)
c.3461A>T (p.Lys1154Ile)
5g.37020536A>CCA359486689NIPBLc.5088A>C (p.Lys1696Asn)
c.1-44042A>C (n.1-44042A>C)
c.4344A>C (p.Lys1448Asn)
c.4890A>C (p.Lys1630Asn)
c.4707A>C (p.Lys1569Asn)
c.4428A>C (p.Lys1476Asn)
c.3471A>C (p.Lys1157Asn)
c.3462A>C (p.Lys1154Asn)
5g.37020536A>GCA443904967NIPBLc.5088A>G (p.Lys1696=)
c.1-44042A>G (n.1-44042A>G)
c.4344A>G (p.Lys1448=)
c.4890A>G (p.Lys1630=)
c.4707A>G (p.Lys1569=)
c.4428A>G (p.Lys1476=)
c.3471A>G (p.Lys1157=)
c.3462A>G (p.Lys1154=)
5g.37020536A>TCA359486687NIPBLc.5088A>T (p.Lys1696Asn)
c.1-44042A>T (n.1-44042A>T)
c.4344A>T (p.Lys1448Asn)
c.4890A>T (p.Lys1630Asn)
c.4707A>T (p.Lys1569Asn)
c.4428A>T (p.Lys1476Asn)
c.3471A>T (p.Lys1157Asn)
c.3462A>T (p.Lys1154Asn)
5g.37020537G>ACA359486694NIPBLc.5089G>A (p.Asp1697Asn)
c.1-44041G>A (n.1-44041G>A)
c.4345G>A (p.Asp1449Asn)
c.4891G>A (p.Asp1631Asn)
c.4708G>A (p.Asp1570Asn)
c.4429G>A (p.Asp1477Asn)
c.3472G>A (p.Asp1158Asn)
c.3463G>A (p.Asp1155Asn)
5g.37020537G>CCA359486697NIPBLc.5089G>C (p.Asp1697His)
c.1-44041G>C (n.1-44041G>C)
c.4345G>C (p.Asp1449His)
c.4891G>C (p.Asp1631His)
c.4708G>C (p.Asp1570His)
c.4429G>C (p.Asp1477His)
c.3472G>C (p.Asp1158His)
c.3463G>C (p.Asp1155His)
 dbSNP gnomAD v4
5g.37020537G=CA1539619230NIPBLc.5089G= (p.Asp1697=)
c.1-44041G= (n.1-44041G=)
c.4345G= (p.Asp1449=)
c.4891G= (p.Asp1631=)
c.4708G= (p.Asp1570=)
c.4429G= (p.Asp1477=)
c.3472G= (p.Asp1158=)
c.3463G= (p.Asp1155=)
5g.37020537G>TCA359486699NIPBLc.5089G>T (p.Asp1697Tyr)
c.1-44041G>T (n.1-44041G>T)
c.4345G>T (p.Asp1449Tyr)
c.4891G>T (p.Asp1631Tyr)
c.4708G>T (p.Asp1570Tyr)
c.4429G>T (p.Asp1477Tyr)
c.3472G>T (p.Asp1158Tyr)
c.3463G>T (p.Asp1155Tyr)
5g.37020538A>CCA359486702NIPBLc.5090A>C (p.Asp1697Ala)
c.1-44040A>C (n.1-44040A>C)
c.4346A>C (p.Asp1449Ala)
c.4892A>C (p.Asp1631Ala)
c.4709A>C (p.Asp1570Ala)
c.4430A>C (p.Asp1477Ala)
c.3473A>C (p.Asp1158Ala)
c.3464A>C (p.Asp1155Ala)
5g.37020538A>GCA359486704NIPBLc.5090A>G (p.Asp1697Gly)
c.1-44040A>G (n.1-44040A>G)
c.4346A>G (p.Asp1449Gly)
c.4892A>G (p.Asp1631Gly)
c.4709A>G (p.Asp1570Gly)
c.4430A>G (p.Asp1477Gly)
c.3473A>G (p.Asp1158Gly)
c.3464A>G (p.Asp1155Gly)
 gnomAD v4
5g.37020538A>TCA359486707NIPBLc.5090A>T (p.Asp1697Val)
c.1-44040A>T (n.1-44040A>T)
c.4346A>T (p.Asp1449Val)
c.4892A>T (p.Asp1631Val)
c.4709A>T (p.Asp1570Val)
c.4430A>T (p.Asp1477Val)
c.3473A>T (p.Asp1158Val)
c.3464A>T (p.Asp1155Val)
 gnomAD v4
5g.37020539T>ACA359486709NIPBLc.5091T>A (p.Asp1697Glu)
c.1-44039T>A (n.1-44039T>A)
c.4347T>A (p.Asp1449Glu)
c.4893T>A (p.Asp1631Glu)
c.4710T>A (p.Asp1570Glu)
c.4431T>A (p.Asp1477Glu)
c.3474T>A (p.Asp1158Glu)
c.3465T>A (p.Asp1155Glu)
5g.37020539T>CCA443904970NIPBLc.5091T>C (p.Asp1697=)
c.1-44039T>C (n.1-44039T>C)
c.4347T>C (p.Asp1449=)
c.4893T>C (p.Asp1631=)
c.4710T>C (p.Asp1570=)
c.4431T>C (p.Asp1477=)
c.3474T>C (p.Asp1158=)
c.3465T>C (p.Asp1155=)
5g.37020539T>GCA359486712NIPBLc.5091T>G (p.Asp1697Glu)
c.1-44039T>G (n.1-44039T>G)
c.4347T>G (p.Asp1449Glu)
c.4893T>G (p.Asp1631Glu)
c.4710T>G (p.Asp1570Glu)
c.4431T>G (p.Asp1477Glu)
c.3474T>G (p.Asp1158Glu)
c.3465T>G (p.Asp1155Glu)
5g.37020539_37020542delinsTGAACA1539619232NIPBLc.5091_5094delinsTGAA (p.Asp1697=)
c.1-44039_1-44036delinsTGAA (n.1-44039_1-44036delinsTGAA)
c.4347_4350delinsTGAA (p.Asp1449=)
c.4893_4896delinsTGAA (p.Asp1631=)
c.4710_4713delinsTGAA (p.Asp1570=)
c.4431_4434delinsTGAA (p.Asp1477=)
c.3474_3477delinsTGAA (p.Asp1158=)
c.3465_3468delinsTGAA (p.Asp1155=)
5g.37020540G>ACA359486715NIPBLc.5092G>A (p.Glu1698Lys)
c.1-44038G>A (n.1-44038G>A)
c.4348G>A (p.Glu1450Lys)
c.4894G>A (p.Glu1632Lys)
c.4711G>A (p.Glu1571Lys)
c.4432G>A (p.Glu1478Lys)
c.3475G>A (p.Glu1159Lys)
c.3466G>A (p.Glu1156Lys)
5g.37020540G>CCA359486716NIPBLc.5092G>C (p.Glu1698Gln)
c.1-44038G>C (n.1-44038G>C)
c.4348G>C (p.Glu1450Gln)
c.4894G>C (p.Glu1632Gln)
c.4711G>C (p.Glu1571Gln)
c.4432G>C (p.Glu1478Gln)
c.3475G>C (p.Glu1159Gln)
c.3466G>C (p.Glu1156Gln)
5g.37020540G>TCA359486719NIPBLc.5092G>T (p.Glu1698Ter)
c.1-44038G>T (n.1-44038G>T)
c.4348G>T (p.Glu1450Ter)
c.4894G>T (p.Glu1632Ter)
c.4711G>T (p.Glu1571Ter)
c.4432G>T (p.Glu1478Ter)
c.3475G>T (p.Glu1159Ter)
c.3466G>T (p.Glu1156Ter)
5g.37020543_37020545delCA559015848NIPBLc.5095_5097del (p.Glu1699del)
c.1-44035_1-44033del (n.1-44035_1-44033del)
c.4351_4353del (p.Glu1451del)
c.4897_4899del (p.Glu1633del)
c.4714_4716del (p.Glu1572del)
c.4435_4437del (p.Glu1479del)
c.3478_3480del (p.Glu1160del)
c.3469_3471del (p.Glu1157del)
 dbSNP gnomAD v2 gnomAD v4
5g.37020541A>CCA359486728NIPBLc.5093A>C (p.Glu1698Ala)
c.1-44037A>C (n.1-44037A>C)
c.4349A>C (p.Glu1450Ala)
c.4895A>C (p.Glu1632Ala)
c.4712A>C (p.Glu1571Ala)
c.4433A>C (p.Glu1478Ala)
c.3476A>C (p.Glu1159Ala)
c.3467A>C (p.Glu1156Ala)
5g.37020541A>GCA359486726NIPBLc.5093A>G (p.Glu1698Gly)
c.1-44037A>G (n.1-44037A>G)
c.4349A>G (p.Glu1450Gly)
c.4895A>G (p.Glu1632Gly)
c.4712A>G (p.Glu1571Gly)
c.4433A>G (p.Glu1478Gly)
c.3476A>G (p.Glu1159Gly)
c.3467A>G (p.Glu1156Gly)
5g.37020541A>TCA359486723NIPBLc.5093A>T (p.Glu1698Val)
c.1-44037A>T (n.1-44037A>T)
c.4349A>T (p.Glu1450Val)
c.4895A>T (p.Glu1632Val)
c.4712A>T (p.Glu1571Val)
c.4433A>T (p.Glu1478Val)
c.3476A>T (p.Glu1159Val)
c.3467A>T (p.Glu1156Val)
5g.37020542A>CCA359486730NIPBLc.5094A>C (p.Glu1698Asp)
c.1-44036A>C (n.1-44036A>C)
c.4350A>C (p.Glu1450Asp)
c.4896A>C (p.Glu1632Asp)
c.4713A>C (p.Glu1571Asp)
c.4434A>C (p.Glu1478Asp)
c.3477A>C (p.Glu1159Asp)
c.3468A>C (p.Glu1156Asp)
5g.37020542A>GCA443904974NIPBLc.5094A>G (p.Glu1698=)
c.1-44036A>G (n.1-44036A>G)
c.4350A>G (p.Glu1450=)
c.4896A>G (p.Glu1632=)
c.4713A>G (p.Glu1571=)
c.4434A>G (p.Glu1478=)
c.3477A>G (p.Glu1159=)
c.3468A>G (p.Glu1156=)
5g.37020542A>TCA359486731NIPBLc.5094A>T (p.Glu1698Asp)
c.1-44036A>T (n.1-44036A>T)
c.4350A>T (p.Glu1450Asp)
c.4896A>T (p.Glu1632Asp)
c.4713A>T (p.Glu1571Asp)
c.4434A>T (p.Glu1478Asp)
c.3477A>T (p.Glu1159Asp)
c.3468A>T (p.Glu1156Asp)
5g.37020543G>ACA359486740NIPBLc.5095G>A (p.Glu1699Lys)
c.1-44035G>A (n.1-44035G>A)
c.4351G>A (p.Glu1451Lys)
c.4897G>A (p.Glu1633Lys)
c.4714G>A (p.Glu1572Lys)
c.4435G>A (p.Glu1479Lys)
c.3478G>A (p.Glu1160Lys)
c.3469G>A (p.Glu1157Lys)
5g.37020543G>CCA359486741NIPBLc.5095G>C (p.Glu1699Gln)
c.1-44035G>C (n.1-44035G>C)
c.4351G>C (p.Glu1451Gln)
c.4897G>C (p.Glu1633Gln)
c.4714G>C (p.Glu1572Gln)
c.4435G>C (p.Glu1479Gln)
c.3478G>C (p.Glu1160Gln)
c.3469G>C (p.Glu1157Gln)
5g.37020543G>TCA359486744NIPBLc.5095G>T (p.Glu1699Ter)
c.1-44035G>T (n.1-44035G>T)
c.4351G>T (p.Glu1451Ter)
c.4897G>T (p.Glu1633Ter)
c.4714G>T (p.Glu1572Ter)
c.4435G>T (p.Glu1479Ter)
c.3478G>T (p.Glu1160Ter)
c.3469G>T (p.Glu1157Ter)
5g.37020544A>CCA359486747NIPBLc.5096A>C (p.Glu1699Ala)
c.1-44034A>C (n.1-44034A>C)
c.4352A>C (p.Glu1451Ala)
c.4898A>C (p.Glu1633Ala)
c.4715A>C (p.Glu1572Ala)
c.4436A>C (p.Glu1479Ala)
c.3479A>C (p.Glu1160Ala)
c.3470A>C (p.Glu1157Ala)
5g.37020544A>GCA359486750NIPBLc.5096A>G (p.Glu1699Gly)
c.1-44034A>G (n.1-44034A>G)
c.4352A>G (p.Glu1451Gly)
c.4898A>G (p.Glu1633Gly)
c.4715A>G (p.Glu1572Gly)
c.4436A>G (p.Glu1479Gly)
c.3479A>G (p.Glu1160Gly)
c.3470A>G (p.Glu1157Gly)
5g.37020544A>TCA359486752NIPBLc.5096A>T (p.Glu1699Val)
c.1-44034A>T (n.1-44034A>T)
c.4352A>T (p.Glu1451Val)
c.4898A>T (p.Glu1633Val)
c.4715A>T (p.Glu1572Val)
c.4436A>T (p.Glu1479Val)
c.3479A>T (p.Glu1160Val)
c.3470A>T (p.Glu1157Val)
5g.37020545A>CCA359486756NIPBLc.5097A>C (p.Glu1699Asp)
c.1-44033A>C (n.1-44033A>C)
c.4353A>C (p.Glu1451Asp)
c.4899A>C (p.Glu1633Asp)
c.4716A>C (p.Glu1572Asp)
c.4437A>C (p.Glu1479Asp)
c.3480A>C (p.Glu1160Asp)
c.3471A>C (p.Glu1157Asp)
5g.37020545A>GCA443904978NIPBLc.5097A>G (p.Glu1699=)
c.1-44033A>G (n.1-44033A>G)
c.4353A>G (p.Glu1451=)
c.4899A>G (p.Glu1633=)
c.4716A>G (p.Glu1572=)
c.4437A>G (p.Glu1479=)
c.3480A>G (p.Glu1160=)
c.3471A>G (p.Glu1157=)
 gnomAD v4
5g.37020545A>TCA359486759NIPBLc.5097A>T (p.Glu1699Asp)
c.1-44033A>T (n.1-44033A>T)
c.4353A>T (p.Glu1451Asp)
c.4899A>T (p.Glu1633Asp)
c.4716A>T (p.Glu1572Asp)
c.4437A>T (p.Glu1479Asp)
c.3480A>T (p.Glu1160Asp)
c.3471A>T (p.Glu1157Asp)
5g.37020546T>ACA359486762NIPBLc.5098T>A (p.Ser1700Thr)
c.1-44032T>A (n.1-44032T>A)
c.4354T>A (p.Ser1452Thr)
c.4900T>A (p.Ser1634Thr)
c.4717T>A (p.Ser1573Thr)
c.4438T>A (p.Ser1480Thr)
c.3481T>A (p.Ser1161Thr)
c.3472T>A (p.Ser1158Thr)
5g.37020546T>CCA359486763NIPBLc.5098T>C (p.Ser1700Pro)
c.1-44032T>C (n.1-44032T>C)
c.4354T>C (p.Ser1452Pro)
c.4900T>C (p.Ser1634Pro)
c.4717T>C (p.Ser1573Pro)
c.4438T>C (p.Ser1480Pro)
c.3481T>C (p.Ser1161Pro)
c.3472T>C (p.Ser1158Pro)
5g.37020546T>GCA359486766NIPBLc.5098T>G (p.Ser1700Ala)
c.1-44032T>G (n.1-44032T>G)
c.4354T>G (p.Ser1452Ala)
c.4900T>G (p.Ser1634Ala)
c.4717T>G (p.Ser1573Ala)
c.4438T>G (p.Ser1480Ala)
c.3481T>G (p.Ser1161Ala)
c.3472T>G (p.Ser1158Ala)
5g.37020547C>ACA359486774NIPBLc.5099C>A (p.Ser1700Ter)
c.1-44031C>A (n.1-44031C>A)
c.4355C>A (p.Ser1452Ter)
c.4901C>A (p.Ser1634Ter)
c.4718C>A (p.Ser1573Ter)
c.4439C>A (p.Ser1480Ter)
c.3482C>A (p.Ser1161Ter)
c.3473C>A (p.Ser1158Ter)
5g.37020547C=CA1539619235NIPBLc.5099C= (p.Ser1700=)
c.1-44031C= (n.1-44031C=)
c.4355C= (p.Ser1452=)
c.4901C= (p.Ser1634=)
c.4718C= (p.Ser1573=)
c.4439C= (p.Ser1480=)
c.3482C= (p.Ser1161=)
c.3473C= (p.Ser1158=)
5g.37020547C>GCA359486772NIPBLc.5099C>G (p.Ser1700Ter)
c.1-44031C>G (n.1-44031C>G)
c.4355C>G (p.Ser1452Ter)
c.4901C>G (p.Ser1634Ter)
c.4718C>G (p.Ser1573Ter)
c.4439C>G (p.Ser1480Ter)
c.3482C>G (p.Ser1161Ter)
c.3473C>G (p.Ser1158Ter)
5g.37020547C>TCA117027979NIPBLc.5099C>T (p.Ser1700Leu)
c.1-44031C>T (n.1-44031C>T)
c.4355C>T (p.Ser1452Leu)
c.4901C>T (p.Ser1634Leu)
c.4718C>T (p.Ser1573Leu)
c.4439C>T (p.Ser1480Leu)
c.3482C>T (p.Ser1161Leu)
c.3473C>T (p.Ser1158Leu)
 dbSNP COSMIC COSMIC
5g.37020548A=CA1539619239NIPBLc.5100A= (p.Ser1700=)
c.1-44030A= (n.1-44030A=)
c.4356A= (p.Ser1452=)
c.4902A= (p.Ser1634=)
c.4719A= (p.Ser1573=)
c.4440A= (p.Ser1480=)
c.3483A= (p.Ser1161=)
c.3474A= (p.Ser1158=)
5g.37020548A>CCA443904984NIPBLc.5100A>C (p.Ser1700=)
c.1-44030A>C (n.1-44030A>C)
c.4356A>C (p.Ser1452=)
c.4902A>C (p.Ser1634=)
c.4719A>C (p.Ser1573=)
c.4440A>C (p.Ser1480=)
c.3483A>C (p.Ser1161=)
c.3474A>C (p.Ser1158=)
5g.37020548A>GCA443904982NIPBLc.5100A>G (p.Ser1700=)
c.1-44030A>G (n.1-44030A>G)
c.4356A>G (p.Ser1452=)
c.4902A>G (p.Ser1634=)
c.4719A>G (p.Ser1573=)
c.4440A>G (p.Ser1480=)
c.3483A>G (p.Ser1161=)
c.3474A>G (p.Ser1158=)
 dbSNP gnomAD v2 gnomAD v4
5g.37020548A>TCA443904983NIPBLc.5100A>T (p.Ser1700=)
c.1-44030A>T (n.1-44030A>T)
c.4356A>T (p.Ser1452=)
c.4902A>T (p.Ser1634=)
c.4719A>T (p.Ser1573=)
c.4440A>T (p.Ser1480=)
c.3483A>T (p.Ser1161=)
c.3474A>T (p.Ser1158=)
 dbSNP gnomAD v3 gnomAD v4
5g.37020549T>ACA359486776NIPBLc.5101T>A (p.Ser1701Thr)
c.1-44029T>A (n.1-44029T>A)
c.4357T>A (p.Ser1453Thr)
c.4903T>A (p.Ser1635Thr)
c.4720T>A (p.Ser1574Thr)
c.4441T>A (p.Ser1481Thr)
c.3484T>A (p.Ser1162Thr)
c.3475T>A (p.Ser1159Thr)
5g.37020549T>CCA3236699NIPBLc.5101T>C (p.Ser1701Pro)
c.1-44029T>C (n.1-44029T>C)
c.4357T>C (p.Ser1453Pro)
c.4903T>C (p.Ser1635Pro)
c.4720T>C (p.Ser1574Pro)
c.4441T>C (p.Ser1481Pro)
c.3484T>C (p.Ser1162Pro)
c.3475T>C (p.Ser1159Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020549T>GCA359486778NIPBLc.5101T>G (p.Ser1701Ala)
c.1-44029T>G (n.1-44029T>G)
c.4357T>G (p.Ser1453Ala)
c.4903T>G (p.Ser1635Ala)
c.4720T>G (p.Ser1574Ala)
c.4441T>G (p.Ser1481Ala)
c.3484T>G (p.Ser1162Ala)
c.3475T>G (p.Ser1159Ala)
5g.37020549T=CA1539619243NIPBLc.5101T= (p.Ser1701=)
c.1-44029T= (n.1-44029T=)
c.4357T= (p.Ser1453=)
c.4903T= (p.Ser1635=)
c.4720T= (p.Ser1574=)
c.4441T= (p.Ser1481=)
c.3484T= (p.Ser1162=)
c.3475T= (p.Ser1159=)
5g.37020550C>ACA359486781NIPBLc.5102C>A (p.Ser1701Tyr)
c.1-44028C>A (n.1-44028C>A)
c.4358C>A (p.Ser1453Tyr)
c.4904C>A (p.Ser1635Tyr)
c.4721C>A (p.Ser1574Tyr)
c.4442C>A (p.Ser1481Tyr)
c.3485C>A (p.Ser1162Tyr)
c.3476C>A (p.Ser1159Tyr)
5g.37020550C>GCA359486784NIPBLc.5102C>G (p.Ser1701Cys)
c.1-44028C>G (n.1-44028C>G)
c.4358C>G (p.Ser1453Cys)
c.4904C>G (p.Ser1635Cys)
c.4721C>G (p.Ser1574Cys)
c.4442C>G (p.Ser1481Cys)
c.3485C>G (p.Ser1162Cys)
c.3476C>G (p.Ser1159Cys)
 gnomAD v4
5g.37020550C>TCA359486785NIPBLc.5102C>T (p.Ser1701Phe)
c.1-44028C>T (n.1-44028C>T)
c.4358C>T (p.Ser1453Phe)
c.4904C>T (p.Ser1635Phe)
c.4721C>T (p.Ser1574Phe)
c.4442C>T (p.Ser1481Phe)
c.3485C>T (p.Ser1162Phe)
c.3476C>T (p.Ser1159Phe)
 gnomAD v4
5g.37020551T>ACA443904989NIPBLc.5103T>A (p.Ser1701=)
c.1-44027T>A (n.1-44027T>A)
c.4359T>A (p.Ser1453=)
c.4905T>A (p.Ser1635=)
c.4722T>A (p.Ser1574=)
c.4443T>A (p.Ser1481=)
c.3486T>A (p.Ser1162=)
c.3477T>A (p.Ser1159=)
5g.37020551T>CCA443904987NIPBLc.5103T>C (p.Ser1701=)
c.1-44027T>C (n.1-44027T>C)
c.4359T>C (p.Ser1453=)
c.4905T>C (p.Ser1635=)
c.4722T>C (p.Ser1574=)
c.4443T>C (p.Ser1481=)
c.3486T>C (p.Ser1162=)
c.3477T>C (p.Ser1159=)
 gnomAD v4
5g.37020551T>GCA443904986NIPBLc.5103T>G (p.Ser1701=)
c.1-44027T>G (n.1-44027T>G)
c.4359T>G (p.Ser1453=)
c.4905T>G (p.Ser1635=)
c.4722T>G (p.Ser1574=)
c.4443T>G (p.Ser1481=)
c.3486T>G (p.Ser1162=)
c.3477T>G (p.Ser1159=)
5g.37020552G>ACA359486791NIPBLc.5104G>A (p.Glu1702Lys)
c.1-44026G>A (n.1-44026G>A)
c.4360G>A (p.Glu1454Lys)
c.4906G>A (p.Glu1636Lys)
c.4723G>A (p.Glu1575Lys)
c.4444G>A (p.Glu1482Lys)
c.3487G>A (p.Glu1163Lys)
c.3478G>A (p.Glu1160Lys)
5g.37020552G>CCA359486788NIPBLc.5104G>C (p.Glu1702Gln)
c.1-44026G>C (n.1-44026G>C)
c.4360G>C (p.Glu1454Gln)
c.4906G>C (p.Glu1636Gln)
c.4723G>C (p.Glu1575Gln)
c.4444G>C (p.Glu1482Gln)
c.3487G>C (p.Glu1163Gln)
c.3478G>C (p.Glu1160Gln)
5g.37020552G>TCA359486789NIPBLc.5104G>T (p.Glu1702Ter)
c.1-44026G>T (n.1-44026G>T)
c.4360G>T (p.Glu1454Ter)
c.4906G>T (p.Glu1636Ter)
c.4723G>T (p.Glu1575Ter)
c.4444G>T (p.Glu1482Ter)
c.3487G>T (p.Glu1163Ter)
c.3478G>T (p.Glu1160Ter)
5g.37020553A>CCA359486794NIPBLc.5105A>C (p.Glu1702Ala)
c.1-44025A>C (n.1-44025A>C)
c.4361A>C (p.Glu1454Ala)
c.4907A>C (p.Glu1636Ala)
c.4724A>C (p.Glu1575Ala)
c.4445A>C (p.Glu1482Ala)
c.3488A>C (p.Glu1163Ala)
c.3479A>C (p.Glu1160Ala)
5g.37020553A>GCA359486797NIPBLc.5105A>G (p.Glu1702Gly)
c.1-44025A>G (n.1-44025A>G)
c.4361A>G (p.Glu1454Gly)
c.4907A>G (p.Glu1636Gly)
c.4724A>G (p.Glu1575Gly)
c.4445A>G (p.Glu1482Gly)
c.3488A>G (p.Glu1163Gly)
c.3479A>G (p.Glu1160Gly)
5g.37020553A>TCA359486799NIPBLc.5105A>T (p.Glu1702Val)
c.1-44025A>T (n.1-44025A>T)
c.4361A>T (p.Glu1454Val)
c.4907A>T (p.Glu1636Val)
c.4724A>T (p.Glu1575Val)
c.4445A>T (p.Glu1482Val)
c.3488A>T (p.Glu1163Val)
c.3479A>T (p.Glu1160Val)
5g.37020554A>CCA359486800NIPBLc.5106A>C (p.Glu1702Asp)
c.1-44024A>C (n.1-44024A>C)
c.4362A>C (p.Glu1454Asp)
c.4908A>C (p.Glu1636Asp)
c.4725A>C (p.Glu1575Asp)
c.4446A>C (p.Glu1482Asp)
c.3489A>C (p.Glu1163Asp)
c.3480A>C (p.Glu1160Asp)
5g.37020554A>GCA443904994NIPBLc.5106A>G (p.Glu1702=)
c.1-44024A>G (n.1-44024A>G)
c.4362A>G (p.Glu1454=)
c.4908A>G (p.Glu1636=)
c.4725A>G (p.Glu1575=)
c.4446A>G (p.Glu1482=)
c.3489A>G (p.Glu1163=)
c.3480A>G (p.Glu1160=)
 COSMIC COSMIC
5g.37020554A>TCA359486802NIPBLc.5106A>T (p.Glu1702Asp)
c.1-44024A>T (n.1-44024A>T)
c.4362A>T (p.Glu1454Asp)
c.4908A>T (p.Glu1636Asp)
c.4725A>T (p.Glu1575Asp)
c.4446A>T (p.Glu1482Asp)
c.3489A>T (p.Glu1163Asp)
c.3480A>T (p.Glu1160Asp)
5g.37020555G>ACA359486806NIPBLc.5107G>A (p.Gly1703Arg)
c.1-44023G>A (n.1-44023G>A)
c.4363G>A (p.Gly1455Arg)
c.4909G>A (p.Gly1637Arg)
c.4726G>A (p.Gly1576Arg)
c.4447G>A (p.Gly1483Arg)
c.3490G>A (p.Gly1164Arg)
c.3481G>A (p.Gly1161Arg)
5g.37020555G>CCA359486804NIPBLc.5107G>C (p.Gly1703Arg)
c.1-44023G>C (n.1-44023G>C)
c.4363G>C (p.Gly1455Arg)
c.4909G>C (p.Gly1637Arg)
c.4726G>C (p.Gly1576Arg)
c.4447G>C (p.Gly1483Arg)
c.3490G>C (p.Gly1164Arg)
c.3481G>C (p.Gly1161Arg)
5g.37020555G>TCA359486805NIPBLc.5107G>T (p.Gly1703Ter)
c.1-44023G>T (n.1-44023G>T)
c.4363G>T (p.Gly1455Ter)
c.4909G>T (p.Gly1637Ter)
c.4726G>T (p.Gly1576Ter)
c.4447G>T (p.Gly1483Ter)
c.3490G>T (p.Gly1164Ter)
c.3481G>T (p.Gly1161Ter)
5g.37020556G>ACA359486808NIPBLc.5108G>A (p.Gly1703Glu)
c.1-44022G>A (n.1-44022G>A)
c.4364G>A (p.Gly1455Glu)
c.4910G>A (p.Gly1637Glu)
c.4727G>A (p.Gly1576Glu)
c.4448G>A (p.Gly1483Glu)
c.3491G>A (p.Gly1164Glu)
c.3482G>A (p.Gly1161Glu)
 dbSNP gnomAD v2 gnomAD v4
5g.37020556G>CCA359486810NIPBLc.5108G>C (p.Gly1703Ala)
c.1-44022G>C (n.1-44022G>C)
c.4364G>C (p.Gly1455Ala)
c.4910G>C (p.Gly1637Ala)
c.4727G>C (p.Gly1576Ala)
c.4448G>C (p.Gly1483Ala)
c.3491G>C (p.Gly1164Ala)
c.3482G>C (p.Gly1161Ala)
5g.37020556G=CA1539619246NIPBLc.5108G= (p.Gly1703=)
c.1-44022G= (n.1-44022G=)
c.4364G= (p.Gly1455=)
c.4910G= (p.Gly1637=)
c.4727G= (p.Gly1576=)
c.4448G= (p.Gly1483=)
c.3491G= (p.Gly1164=)
c.3482G= (p.Gly1161=)
5g.37020556G>TCA359486812NIPBLc.5108G>T (p.Gly1703Val)
c.1-44022G>T (n.1-44022G>T)
c.4364G>T (p.Gly1455Val)
c.4910G>T (p.Gly1637Val)
c.4727G>T (p.Gly1576Val)
c.4448G>T (p.Gly1483Val)
c.3491G>T (p.Gly1164Val)
c.3482G>T (p.Gly1161Val)
5g.37020557A>CCA443904997NIPBLc.5109A>C (p.Gly1703=)
c.1-44021A>C (n.1-44021A>C)
c.4365A>C (p.Gly1455=)
c.4911A>C (p.Gly1637=)
c.4728A>C (p.Gly1576=)
c.4449A>C (p.Gly1483=)
c.3492A>C (p.Gly1164=)
c.3483A>C (p.Gly1161=)
5g.37020557A>GCA443904998NIPBLc.5109A>G (p.Gly1703=)
c.1-44021A>G (n.1-44021A>G)
c.4365A>G (p.Gly1455=)
c.4911A>G (p.Gly1637=)
c.4728A>G (p.Gly1576=)
c.4449A>G (p.Gly1483=)
c.3492A>G (p.Gly1164=)
c.3483A>G (p.Gly1161=)
5g.37020557A>TCA443904999NIPBLc.5109A>T (p.Gly1703=)
c.1-44021A>T (n.1-44021A>T)
c.4365A>T (p.Gly1455=)
c.4911A>T (p.Gly1637=)
c.4728A>T (p.Gly1576=)
c.4449A>T (p.Gly1483=)
c.3492A>T (p.Gly1164=)
c.3483A>T (p.Gly1161=)
5g.37020558A>CCA359486813NIPBLc.5110A>C (p.Thr1704Pro)
c.1-44020A>C (n.1-44020A>C)
c.4366A>C (p.Thr1456Pro)
c.4912A>C (p.Thr1638Pro)
c.4729A>C (p.Thr1577Pro)
c.4450A>C (p.Thr1484Pro)
c.3493A>C (p.Thr1165Pro)
c.3484A>C (p.Thr1162Pro)
5g.37020558A>GCA359486814NIPBLc.5110A>G (p.Thr1704Ala)
c.1-44020A>G (n.1-44020A>G)
c.4366A>G (p.Thr1456Ala)
c.4912A>G (p.Thr1638Ala)
c.4729A>G (p.Thr1577Ala)
c.4450A>G (p.Thr1484Ala)
c.3493A>G (p.Thr1165Ala)
c.3484A>G (p.Thr1162Ala)
 gnomAD v4
5g.37020558A>TCA359486815NIPBLc.5110A>T (p.Thr1704Ser)
c.1-44020A>T (n.1-44020A>T)
c.4366A>T (p.Thr1456Ser)
c.4912A>T (p.Thr1638Ser)
c.4729A>T (p.Thr1577Ser)
c.4450A>T (p.Thr1484Ser)
c.3493A>T (p.Thr1165Ser)
c.3484A>T (p.Thr1162Ser)
5g.37020559C>ACA359486818NIPBLc.5111C>A (p.Thr1704Lys)
c.1-44019C>A (n.1-44019C>A)
c.4367C>A (p.Thr1456Lys)
c.4913C>A (p.Thr1638Lys)
c.4730C>A (p.Thr1577Lys)
c.4451C>A (p.Thr1484Lys)
c.3494C>A (p.Thr1165Lys)
c.3485C>A (p.Thr1162Lys)
5g.37020559C>GCA359486819NIPBLc.5111C>G (p.Thr1704Arg)
c.1-44019C>G (n.1-44019C>G)
c.4367C>G (p.Thr1456Arg)
c.4913C>G (p.Thr1638Arg)
c.4730C>G (p.Thr1577Arg)
c.4451C>G (p.Thr1484Arg)
c.3494C>G (p.Thr1165Arg)
c.3485C>G (p.Thr1162Arg)
5g.37020559C>TCA359486821NIPBLc.5111C>T (p.Thr1704Ile)
c.1-44019C>T (n.1-44019C>T)
c.4367C>T (p.Thr1456Ile)
c.4913C>T (p.Thr1638Ile)
c.4730C>T (p.Thr1577Ile)
c.4451C>T (p.Thr1484Ile)
c.3494C>T (p.Thr1165Ile)
c.3485C>T (p.Thr1162Ile)
5g.37020560A>CCA443905003NIPBLc.5112A>C (p.Thr1704=)
c.1-44018A>C (n.1-44018A>C)
c.4368A>C (p.Thr1456=)
c.4914A>C (p.Thr1638=)
c.4731A>C (p.Thr1577=)
c.4452A>C (p.Thr1484=)
c.3495A>C (p.Thr1165=)
c.3486A>C (p.Thr1162=)
5g.37020560A>GCA443905004NIPBLc.5112A>G (p.Thr1704=)
c.1-44018A>G (n.1-44018A>G)
c.4368A>G (p.Thr1456=)
c.4914A>G (p.Thr1638=)
c.4731A>G (p.Thr1577=)
c.4452A>G (p.Thr1484=)
c.3495A>G (p.Thr1165=)
c.3486A>G (p.Thr1162=)
5g.37020560A>TCA443905005NIPBLc.5112A>T (p.Thr1704=)
c.1-44018A>T (n.1-44018A>T)
c.4368A>T (p.Thr1456=)
c.4914A>T (p.Thr1638=)
c.4731A>T (p.Thr1577=)
c.4452A>T (p.Thr1484=)
c.3495A>T (p.Thr1165=)
c.3486A>T (p.Thr1162=)
5g.37020561C>ACA359486823NIPBLc.5113C>A (p.His1705Asn)
c.1-44017C>A (n.1-44017C>A)
c.4369C>A (p.His1457Asn)
c.4915C>A (p.His1639Asn)
c.4732C>A (p.His1578Asn)
c.4453C>A (p.His1485Asn)
c.3496C>A (p.His1166Asn)
c.3487C>A (p.His1163Asn)
5g.37020561C=CA1539619249NIPBLc.5113C= (p.His1705=)
c.1-44017C= (n.1-44017C=)
c.4369C= (p.His1457=)
c.4915C= (p.His1639=)
c.4732C= (p.His1578=)
c.4453C= (p.His1485=)
c.3496C= (p.His1166=)
c.3487C= (p.His1163=)
5g.37020561C>GCA359486830NIPBLc.5113C>G (p.His1705Asp)
c.1-44017C>G (n.1-44017C>G)
c.4369C>G (p.His1457Asp)
c.4915C>G (p.His1639Asp)
c.4732C>G (p.His1578Asp)
c.4453C>G (p.His1485Asp)
c.3496C>G (p.His1166Asp)
c.3487C>G (p.His1163Asp)
5g.37020561C>TCA3236700NIPBLc.5113C>T (p.His1705Tyr)
c.1-44017C>T (n.1-44017C>T)
c.4369C>T (p.His1457Tyr)
c.4915C>T (p.His1639Tyr)
c.4732C>T (p.His1578Tyr)
c.4453C>T (p.His1485Tyr)
c.3496C>T (p.His1166Tyr)
c.3487C>T (p.His1163Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020562A=CA1539619251NIPBLc.5114A= (p.His1705=)
c.1-44016A= (n.1-44016A=)
c.4370A= (p.His1457=)
c.4916A= (p.His1639=)
c.4733A= (p.His1578=)
c.4454A= (p.His1485=)
c.3497A= (p.His1166=)
c.3488A= (p.His1163=)
5g.37020562A>CCA359486836NIPBLc.5114A>C (p.His1705Pro)
c.1-44016A>C (n.1-44016A>C)
c.4370A>C (p.His1457Pro)
c.4916A>C (p.His1639Pro)
c.4733A>C (p.His1578Pro)
c.4454A>C (p.His1485Pro)
c.3497A>C (p.His1166Pro)
c.3488A>C (p.His1163Pro)
5g.37020562A>GCA359486833NIPBLc.5114A>G (p.His1705Arg)
c.1-44016A>G (n.1-44016A>G)
c.4370A>G (p.His1457Arg)
c.4916A>G (p.His1639Arg)
c.4733A>G (p.His1578Arg)
c.4454A>G (p.His1485Arg)
c.3497A>G (p.His1166Arg)
c.3488A>G (p.His1163Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.37020562A>TCA359486834NIPBLc.5114A>T (p.His1705Leu)
c.1-44016A>T (n.1-44016A>T)
c.4370A>T (p.His1457Leu)
c.4916A>T (p.His1639Leu)
c.4733A>T (p.His1578Leu)
c.4454A>T (p.His1485Leu)
c.3497A>T (p.His1166Leu)
c.3488A>T (p.His1163Leu)
 gnomAD v4
5g.37020563T>ACA359486838NIPBLc.5115T>A (p.His1705Gln)
c.1-44015T>A (n.1-44015T>A)
c.4371T>A (p.His1457Gln)
c.4917T>A (p.His1639Gln)
c.4734T>A (p.His1578Gln)
c.4455T>A (p.His1485Gln)
c.3498T>A (p.His1166Gln)
c.3489T>A (p.His1163Gln)
5g.37020563T>CCA443905007NIPBLc.5115T>C (p.His1705=)
c.1-44015T>C (n.1-44015T>C)
c.4371T>C (p.His1457=)
c.4917T>C (p.His1639=)
c.4734T>C (p.His1578=)
c.4455T>C (p.His1485=)
c.3498T>C (p.His1166=)
c.3489T>C (p.His1163=)
 ClinVar dbSNP
5g.37020563T>GCA359486839NIPBLc.5115T>G (p.His1705Gln)
c.1-44015T>G (n.1-44015T>G)
c.4371T>G (p.His1457Gln)
c.4917T>G (p.His1639Gln)
c.4734T>G (p.His1578Gln)
c.4455T>G (p.His1485Gln)
c.3498T>G (p.His1166Gln)
c.3489T>G (p.His1163Gln)
5g.37020564C>ACA359486841NIPBLc.5116C>A (p.His1706Asn)
c.1-44014C>A (n.1-44014C>A)
c.4372C>A (p.His1458Asn)
c.4918C>A (p.His1640Asn)
c.4735C>A (p.His1579Asn)
c.4456C>A (p.His1486Asn)
c.3499C>A (p.His1167Asn)
c.3490C>A (p.His1164Asn)
5g.37020564C=CA1539619254NIPBLc.5116C= (p.His1706=)
c.1-44014C= (n.1-44014C=)
c.4372C= (p.His1458=)
c.4918C= (p.His1640=)
c.4735C= (p.His1579=)
c.4456C= (p.His1486=)
c.3499C= (p.His1167=)
c.3490C= (p.His1164=)
5g.37020564C>GCA3236701NIPBLc.5116C>G (p.His1706Asp)
c.1-44014C>G (n.1-44014C>G)
c.4372C>G (p.His1458Asp)
c.4918C>G (p.His1640Asp)
c.4735C>G (p.His1579Asp)
c.4456C>G (p.His1486Asp)
c.3499C>G (p.His1167Asp)
c.3490C>G (p.His1164Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020564C>TCA359486843NIPBLc.5116C>T (p.His1706Tyr)
c.1-44014C>T (n.1-44014C>T)
c.4372C>T (p.His1458Tyr)
c.4918C>T (p.His1640Tyr)
c.4735C>T (p.His1579Tyr)
c.4456C>T (p.His1486Tyr)
c.3499C>T (p.His1167Tyr)
c.3490C>T (p.His1164Tyr)
5g.37020565A>CCA359486849NIPBLc.5117A>C (p.His1706Pro)
c.1-44013A>C (n.1-44013A>C)
c.4373A>C (p.His1458Pro)
c.4919A>C (p.His1640Pro)
c.4736A>C (p.His1579Pro)
c.4457A>C (p.His1486Pro)
c.3500A>C (p.His1167Pro)
c.3491A>C (p.His1164Pro)
5g.37020565A>GCA359486848NIPBLc.5117A>G (p.His1706Arg)
c.1-44013A>G (n.1-44013A>G)
c.4373A>G (p.His1458Arg)
c.4919A>G (p.His1640Arg)
c.4736A>G (p.His1579Arg)
c.4457A>G (p.His1486Arg)
c.3500A>G (p.His1167Arg)
c.3491A>G (p.His1164Arg)
5g.37020565A>TCA359486846NIPBLc.5117A>T (p.His1706Leu)
c.1-44013A>T (n.1-44013A>T)
c.4373A>T (p.His1458Leu)
c.4919A>T (p.His1640Leu)
c.4736A>T (p.His1579Leu)
c.4457A>T (p.His1486Leu)
c.3500A>T (p.His1167Leu)
c.3491A>T (p.His1164Leu)
 gnomAD v4
5g.37020566T>ACA359486850NIPBLc.5118T>A (p.His1706Gln)
c.1-44012T>A (n.1-44012T>A)
c.4374T>A (p.His1458Gln)
c.4920T>A (p.His1640Gln)
c.4737T>A (p.His1579Gln)
c.4458T>A (p.His1486Gln)
c.3501T>A (p.His1167Gln)
c.3492T>A (p.His1164Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.37020566T>CCA3236702NIPBLc.5118T>C (p.His1706=)
c.1-44012T>C (n.1-44012T>C)
c.4374T>C (p.His1458=)
c.4920T>C (p.His1640=)
c.4737T>C (p.His1579=)
c.4458T>C (p.His1486=)
c.3501T>C (p.His1167=)
c.3492T>C (p.His1164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020566T>GCA359486853NIPBLc.5118T>G (p.His1706Gln)
c.1-44012T>G (n.1-44012T>G)
c.4374T>G (p.His1458Gln)
c.4920T>G (p.His1640Gln)
c.4737T>G (p.His1579Gln)
c.4458T>G (p.His1486Gln)
c.3501T>G (p.His1167Gln)
c.3492T>G (p.His1164Gln)
5g.37020566T=CA1539619257NIPBLc.5118T= (p.His1706=)
c.1-44012T= (n.1-44012T=)
c.4374T= (p.His1458=)
c.4920T= (p.His1640=)
c.4737T= (p.His1579=)
c.4458T= (p.His1486=)
c.3501T= (p.His1167=)
c.3492T= (p.His1164=)
5g.37020567G>ACA359486857NIPBLc.5119G>A (p.Ala1707Thr)
c.1-44011G>A (n.1-44011G>A)
c.4375G>A (p.Ala1459Thr)
c.4921G>A (p.Ala1641Thr)
c.4738G>A (p.Ala1580Thr)
c.4459G>A (p.Ala1487Thr)
c.3502G>A (p.Ala1168Thr)
c.3493G>A (p.Ala1165Thr)
5g.37020567G>CCA359486859NIPBLc.5119G>C (p.Ala1707Pro)
c.1-44011G>C (n.1-44011G>C)
c.4375G>C (p.Ala1459Pro)
c.4921G>C (p.Ala1641Pro)
c.4738G>C (p.Ala1580Pro)
c.4459G>C (p.Ala1487Pro)
c.3502G>C (p.Ala1168Pro)
c.3493G>C (p.Ala1165Pro)
5g.37020567G>TCA359486861NIPBLc.5119G>T (p.Ala1707Ser)
c.1-44011G>T (n.1-44011G>T)
c.4375G>T (p.Ala1459Ser)
c.4921G>T (p.Ala1641Ser)
c.4738G>T (p.Ala1580Ser)
c.4459G>T (p.Ala1487Ser)
c.3502G>T (p.Ala1168Ser)
c.3493G>T (p.Ala1165Ser)
5g.37020568C>ACA359486865NIPBLc.5120C>A (p.Ala1707Glu)
c.1-44010C>A (n.1-44010C>A)
c.4376C>A (p.Ala1459Glu)
c.4922C>A (p.Ala1641Glu)
c.4739C>A (p.Ala1580Glu)
c.4460C>A (p.Ala1487Glu)
c.3503C>A (p.Ala1168Glu)
c.3494C>A (p.Ala1165Glu)
5g.37020568C>GCA359486870NIPBLc.5120C>G (p.Ala1707Gly)
c.1-44010C>G (n.1-44010C>G)
c.4376C>G (p.Ala1459Gly)
c.4922C>G (p.Ala1641Gly)
c.4739C>G (p.Ala1580Gly)
c.4460C>G (p.Ala1487Gly)
c.3503C>G (p.Ala1168Gly)
c.3494C>G (p.Ala1165Gly)
5g.37020568C>TCA359486867NIPBLc.5120C>T (p.Ala1707Val)
c.1-44010C>T (n.1-44010C>T)
c.4376C>T (p.Ala1459Val)
c.4922C>T (p.Ala1641Val)
c.4739C>T (p.Ala1580Val)
c.4460C>T (p.Ala1487Val)
c.3503C>T (p.Ala1168Val)
c.3494C>T (p.Ala1165Val)
5g.37020569A>CCA443905008NIPBLc.5121A>C (p.Ala1707=)
c.1-44009A>C (n.1-44009A>C)
c.4377A>C (p.Ala1459=)
c.4923A>C (p.Ala1641=)
c.4740A>C (p.Ala1580=)
c.4461A>C (p.Ala1487=)
c.3504A>C (p.Ala1168=)
c.3495A>C (p.Ala1165=)
5g.37020569A>GCA443905009NIPBLc.5121A>G (p.Ala1707=)
c.1-44009A>G (n.1-44009A>G)
c.4377A>G (p.Ala1459=)
c.4923A>G (p.Ala1641=)
c.4740A>G (p.Ala1580=)
c.4461A>G (p.Ala1487=)
c.3504A>G (p.Ala1168=)
c.3495A>G (p.Ala1165=)
5g.37020569A>TCA443905010NIPBLc.5121A>T (p.Ala1707=)
c.1-44009A>T (n.1-44009A>T)
c.4377A>T (p.Ala1459=)
c.4923A>T (p.Ala1641=)
c.4740A>T (p.Ala1580=)
c.4461A>T (p.Ala1487=)
c.3504A>T (p.Ala1168=)
c.3495A>T (p.Ala1165=)
5g.37020570A>CCA359486871NIPBLc.5122A>C (p.Lys1708Gln)
c.1-44008A>C (n.1-44008A>C)
c.4378A>C (p.Lys1460Gln)
c.4924A>C (p.Lys1642Gln)
c.4741A>C (p.Lys1581Gln)
c.4462A>C (p.Lys1488Gln)
c.3505A>C (p.Lys1169Gln)
c.3496A>C (p.Lys1166Gln)
5g.37020570A>GCA359486873NIPBLc.5122A>G (p.Lys1708Glu)
c.1-44008A>G (n.1-44008A>G)
c.4378A>G (p.Lys1460Glu)
c.4924A>G (p.Lys1642Glu)
c.4741A>G (p.Lys1581Glu)
c.4462A>G (p.Lys1488Glu)
c.3505A>G (p.Lys1169Glu)
c.3496A>G (p.Lys1166Glu)
5g.37020570A>TCA359486875NIPBLc.5122A>T (p.Lys1708Ter)
c.1-44008A>T (n.1-44008A>T)
c.4378A>T (p.Lys1460Ter)
c.4924A>T (p.Lys1642Ter)
c.4741A>T (p.Lys1581Ter)
c.4462A>T (p.Lys1488Ter)
c.3505A>T (p.Lys1169Ter)
c.3496A>T (p.Lys1166Ter)
5g.37020571A>CCA359486879NIPBLc.5123A>C (p.Lys1708Thr)
c.1-44007A>C (n.1-44007A>C)
c.4379A>C (p.Lys1460Thr)
c.4925A>C (p.Lys1642Thr)
c.4742A>C (p.Lys1581Thr)
c.4463A>C (p.Lys1488Thr)
c.3506A>C (p.Lys1169Thr)
c.3497A>C (p.Lys1166Thr)
5g.37020571A>GCA359486881NIPBLc.5123A>G (p.Lys1708Arg)
c.1-44007A>G (n.1-44007A>G)
c.4379A>G (p.Lys1460Arg)
c.4925A>G (p.Lys1642Arg)
c.4742A>G (p.Lys1581Arg)
c.4463A>G (p.Lys1488Arg)
c.3506A>G (p.Lys1169Arg)
c.3497A>G (p.Lys1166Arg)
5g.37020571A>TCA359486882NIPBLc.5123A>T (p.Lys1708Met)
c.1-44007A>T (n.1-44007A>T)
c.4379A>T (p.Lys1460Met)
c.4925A>T (p.Lys1642Met)
c.4742A>T (p.Lys1581Met)
c.4463A>T (p.Lys1488Met)
c.3506A>T (p.Lys1169Met)
c.3497A>T (p.Lys1166Met)
5g.37020572G>ACA443905011NIPBLc.5124G>A (p.Lys1708=)
c.1-44006G>A (n.1-44006G>A)
c.4380G>A (p.Lys1460=)
c.4926G>A (p.Lys1642=)
c.4743G>A (p.Lys1581=)
c.4464G>A (p.Lys1488=)
c.3507G>A (p.Lys1169=)
c.3498G>A (p.Lys1166=)
5g.37020572G>CCA359486884NIPBLc.5124G>C (p.Lys1708Asn)
c.1-44006G>C (n.1-44006G>C)
c.4380G>C (p.Lys1460Asn)
c.4926G>C (p.Lys1642Asn)
c.4743G>C (p.Lys1581Asn)
c.4464G>C (p.Lys1488Asn)
c.3507G>C (p.Lys1169Asn)
c.3498G>C (p.Lys1166Asn)
 gnomAD v4
5g.37020572G>TCA359486887NIPBLc.5124G>T (p.Lys1708Asn)
c.1-44006G>T (n.1-44006G>T)
c.4380G>T (p.Lys1460Asn)
c.4926G>T (p.Lys1642Asn)
c.4743G>T (p.Lys1581Asn)
c.4464G>T (p.Lys1488Asn)
c.3507G>T (p.Lys1169Asn)
c.3498G>T (p.Lys1166Asn)
5g.37020573G>ACA359486889NIPBLc.5125G>A (p.Glu1709Lys)
c.1-44005G>A (n.1-44005G>A)
c.4381G>A (p.Glu1461Lys)
c.4927G>A (p.Glu1643Lys)
c.4744G>A (p.Glu1582Lys)
c.4465G>A (p.Glu1489Lys)
c.3508G>A (p.Glu1170Lys)
c.3499G>A (p.Glu1167Lys)
5g.37020573G>CCA359486891NIPBLc.5125G>C (p.Glu1709Gln)
c.1-44005G>C (n.1-44005G>C)
c.4381G>C (p.Glu1461Gln)
c.4927G>C (p.Glu1643Gln)
c.4744G>C (p.Glu1582Gln)
c.4465G>C (p.Glu1489Gln)
c.3508G>C (p.Glu1170Gln)
c.3499G>C (p.Glu1167Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.37020573G=CA1539619259NIPBLc.5125G= (p.Glu1709=)
c.1-44005G= (n.1-44005G=)
c.4381G= (p.Glu1461=)
c.4927G= (p.Glu1643=)
c.4744G= (p.Glu1582=)
c.4465G= (p.Glu1489=)
c.3508G= (p.Glu1170=)
c.3499G= (p.Glu1167=)
5g.37020573G>TCA359486895NIPBLc.5125G>T (p.Glu1709Ter)
c.1-44005G>T (n.1-44005G>T)
c.4381G>T (p.Glu1461Ter)
c.4927G>T (p.Glu1643Ter)
c.4744G>T (p.Glu1582Ter)
c.4465G>T (p.Glu1489Ter)
c.3508G>T (p.Glu1170Ter)
c.3499G>T (p.Glu1167Ter)
5g.37020574A>CCA359486897NIPBLc.5126A>C (p.Glu1709Ala)
c.1-44004A>C (n.1-44004A>C)
c.4382A>C (p.Glu1461Ala)
c.4928A>C (p.Glu1643Ala)
c.4745A>C (p.Glu1582Ala)
c.4466A>C (p.Glu1489Ala)
c.3509A>C (p.Glu1170Ala)
c.3500A>C (p.Glu1167Ala)
 ClinVar
5g.37020574A>GCA359486901NIPBLc.5126A>G (p.Glu1709Gly)
c.1-44004A>G (n.1-44004A>G)
c.4382A>G (p.Glu1461Gly)
c.4928A>G (p.Glu1643Gly)
c.4745A>G (p.Glu1582Gly)
c.4466A>G (p.Glu1489Gly)
c.3509A>G (p.Glu1170Gly)
c.3500A>G (p.Glu1167Gly)
5g.37020574A>TCA359486900NIPBLc.5126A>T (p.Glu1709Val)
c.1-44004A>T (n.1-44004A>T)
c.4382A>T (p.Glu1461Val)
c.4928A>T (p.Glu1643Val)
c.4745A>T (p.Glu1582Val)
c.4466A>T (p.Glu1489Val)
c.3509A>T (p.Glu1170Val)
c.3500A>T (p.Glu1167Val)
5g.37020575A=CA1539619260NIPBLc.5127A= (p.Glu1709=)
c.1-44003A= (n.1-44003A=)
c.4383A= (p.Glu1461=)
c.4929A= (p.Glu1643=)
c.4746A= (p.Glu1582=)
c.4467A= (p.Glu1489=)
c.3510A= (p.Glu1170=)
c.3501A= (p.Glu1167=)
5g.37020575A>CCA359486904NIPBLc.5127A>C (p.Glu1709Asp)
c.1-44003A>C (n.1-44003A>C)
c.4383A>C (p.Glu1461Asp)
c.4929A>C (p.Glu1643Asp)
c.4746A>C (p.Glu1582Asp)
c.4467A>C (p.Glu1489Asp)
c.3510A>C (p.Glu1170Asp)
c.3501A>C (p.Glu1167Asp)
5g.37020575A>GCA443905012NIPBLc.5127A>G (p.Glu1709=)
c.1-44003A>G (n.1-44003A>G)
c.4383A>G (p.Glu1461=)
c.4929A>G (p.Glu1643=)
c.4746A>G (p.Glu1582=)
c.4467A>G (p.Glu1489=)
c.3510A>G (p.Glu1170=)
c.3501A>G (p.Glu1167=)
 dbSNP gnomAD v2 gnomAD v4
5g.37020575A>TCA359486907NIPBLc.5127A>T (p.Glu1709Asp)
c.1-44003A>T (n.1-44003A>T)
c.4383A>T (p.Glu1461Asp)
c.4929A>T (p.Glu1643Asp)
c.4746A>T (p.Glu1582Asp)
c.4467A>T (p.Glu1489Asp)
c.3510A>T (p.Glu1170Asp)
c.3501A>T (p.Glu1167Asp)
5g.37020576A=CA1539619261NIPBLc.5128A= (p.Ile1710=)
c.1-44002A= (n.1-44002A=)
c.4384A= (p.Ile1462=)
c.4930A= (p.Ile1644=)
c.4747A= (p.Ile1583=)
c.4468A= (p.Ile1490=)
c.3511A= (p.Ile1171=)
c.3502A= (p.Ile1168=)
5g.37020576A>CCA359486912NIPBLc.5128A>C (p.Ile1710Leu)
c.1-44002A>C (n.1-44002A>C)
c.4384A>C (p.Ile1462Leu)
c.4930A>C (p.Ile1644Leu)
c.4747A>C (p.Ile1583Leu)
c.4468A>C (p.Ile1490Leu)
c.3511A>C (p.Ile1171Leu)
c.3502A>C (p.Ile1168Leu)
5g.37020576A>GCA359486916NIPBLc.5128A>G (p.Ile1710Val)
c.1-44002A>G (n.1-44002A>G)
c.4384A>G (p.Ile1462Val)
c.4930A>G (p.Ile1644Val)
c.4747A>G (p.Ile1583Val)
c.4468A>G (p.Ile1490Val)
c.3511A>G (p.Ile1171Val)
c.3502A>G (p.Ile1168Val)
 dbSNP gnomAD v3 gnomAD v4
5g.37020576A>TCA359486913NIPBLc.5128A>T (p.Ile1710Phe)
c.1-44002A>T (n.1-44002A>T)
c.4384A>T (p.Ile1462Phe)
c.4930A>T (p.Ile1644Phe)
c.4747A>T (p.Ile1583Phe)
c.4468A>T (p.Ile1490Phe)
c.3511A>T (p.Ile1171Phe)
c.3502A>T (p.Ile1168Phe)
5g.37020577T>ACA359486919NIPBLc.5129T>A (p.Ile1710Asn)
c.1-44001T>A (n.1-44001T>A)
c.4385T>A (p.Ile1462Asn)
c.4931T>A (p.Ile1644Asn)
c.4748T>A (p.Ile1583Asn)
c.4469T>A (p.Ile1490Asn)
c.3512T>A (p.Ile1171Asn)
c.3503T>A (p.Ile1168Asn)
5g.37020577T>CCA359486921NIPBLc.5129T>C (p.Ile1710Thr)
c.1-44001T>C (n.1-44001T>C)
c.4385T>C (p.Ile1462Thr)
c.4931T>C (p.Ile1644Thr)
c.4748T>C (p.Ile1583Thr)
c.4469T>C (p.Ile1490Thr)
c.3512T>C (p.Ile1171Thr)
c.3503T>C (p.Ile1168Thr)
5g.37020577T>GCA359486923NIPBLc.5129T>G (p.Ile1710Ser)
c.1-44001T>G (n.1-44001T>G)
c.4385T>G (p.Ile1462Ser)
c.4931T>G (p.Ile1644Ser)
c.4748T>G (p.Ile1583Ser)
c.4469T>G (p.Ile1490Ser)
c.3512T>G (p.Ile1171Ser)
c.3503T>G (p.Ile1168Ser)
5g.37020578T>ACA443905013NIPBLc.5130T>A (p.Ile1710=)
c.1-44000T>A (n.1-44000T>A)
c.4386T>A (p.Ile1462=)
c.4932T>A (p.Ile1644=)
c.4749T>A (p.Ile1583=)
c.4470T>A (p.Ile1490=)
c.3513T>A (p.Ile1171=)
c.3504T>A (p.Ile1168=)
5g.37020578T>CCA443905014NIPBLc.5130T>C (p.Ile1710=)
c.1-44000T>C (n.1-44000T>C)
c.4386T>C (p.Ile1462=)
c.4932T>C (p.Ile1644=)
c.4749T>C (p.Ile1583=)
c.4470T>C (p.Ile1490=)
c.3513T>C (p.Ile1171=)
c.3504T>C (p.Ile1168=)
5g.37020578T>GCA359486926NIPBLc.5130T>G (p.Ile1710Met)
c.1-44000T>G (n.1-44000T>G)
c.4386T>G (p.Ile1462Met)
c.4932T>G (p.Ile1644Met)
c.4749T>G (p.Ile1583Met)
c.4470T>G (p.Ile1490Met)
c.3513T>G (p.Ile1171Met)
c.3504T>G (p.Ile1168Met)
5g.37020579G>ACA359486929NIPBLc.5131G>A (p.Glu1711Lys)
c.1-43999G>A (n.1-43999G>A)
c.4387G>A (p.Glu1463Lys)
c.4933G>A (p.Glu1645Lys)
c.4750G>A (p.Glu1584Lys)
c.4471G>A (p.Glu1491Lys)
c.3514G>A (p.Glu1172Lys)
c.3505G>A (p.Glu1169Lys)
5g.37020579G>CCA359486932NIPBLc.5131G>C (p.Glu1711Gln)
c.1-43999G>C (n.1-43999G>C)
c.4387G>C (p.Glu1463Gln)
c.4933G>C (p.Glu1645Gln)
c.4750G>C (p.Glu1584Gln)
c.4471G>C (p.Glu1491Gln)
c.3514G>C (p.Glu1172Gln)
c.3505G>C (p.Glu1169Gln)
5g.37020579G>TCA359486933NIPBLc.5131G>T (p.Glu1711Ter)
c.1-43999G>T (n.1-43999G>T)
c.4387G>T (p.Glu1463Ter)
c.4933G>T (p.Glu1645Ter)
c.4750G>T (p.Glu1584Ter)
c.4471G>T (p.Glu1491Ter)
c.3514G>T (p.Glu1172Ter)
c.3505G>T (p.Glu1169Ter)
5g.37020580A>CCA359486936NIPBLc.5132A>C (p.Glu1711Ala)
c.1-43998A>C (n.1-43998A>C)
c.4388A>C (p.Glu1463Ala)
c.4934A>C (p.Glu1645Ala)
c.4751A>C (p.Glu1584Ala)
c.4472A>C (p.Glu1491Ala)
c.3515A>C (p.Glu1172Ala)
c.3506A>C (p.Glu1169Ala)
5g.37020580A>GCA359486939NIPBLc.5132A>G (p.Glu1711Gly)
c.1-43998A>G (n.1-43998A>G)
c.4388A>G (p.Glu1463Gly)
c.4934A>G (p.Glu1645Gly)
c.4751A>G (p.Glu1584Gly)
c.4472A>G (p.Glu1491Gly)
c.3515A>G (p.Glu1172Gly)
c.3506A>G (p.Glu1169Gly)
5g.37020580A>TCA359486940NIPBLc.5132A>T (p.Glu1711Val)
c.1-43998A>T (n.1-43998A>T)
c.4388A>T (p.Glu1463Val)
c.4934A>T (p.Glu1645Val)
c.4751A>T (p.Glu1584Val)
c.4472A>T (p.Glu1491Val)
c.3515A>T (p.Glu1172Val)
c.3506A>T (p.Glu1169Val)
5g.37020581G>ACA443905015NIPBLc.5133G>A (p.Glu1711=)
c.1-43997G>A (n.1-43997G>A)
c.4389G>A (p.Glu1463=)
c.4935G>A (p.Glu1645=)
c.4752G>A (p.Glu1584=)
c.4473G>A (p.Glu1491=)
c.3516G>A (p.Glu1172=)
c.3507G>A (p.Glu1169=)
5g.37020581G>CCA359486943NIPBLc.5133G>C (p.Glu1711Asp)
c.1-43997G>C (n.1-43997G>C)
c.4389G>C (p.Glu1463Asp)
c.4935G>C (p.Glu1645Asp)
c.4752G>C (p.Glu1584Asp)
c.4473G>C (p.Glu1491Asp)
c.3516G>C (p.Glu1172Asp)
c.3507G>C (p.Glu1169Asp)
5g.37020581G>TCA359486946NIPBLc.5133G>T (p.Glu1711Asp)
c.1-43997G>T (n.1-43997G>T)
c.4389G>T (p.Glu1463Asp)
c.4935G>T (p.Glu1645Asp)
c.4752G>T (p.Glu1584Asp)
c.4473G>T (p.Glu1491Asp)
c.3516G>T (p.Glu1172Asp)
c.3507G>T (p.Glu1169Asp)
5g.37020582A>CCA359486949NIPBLc.5134A>C (p.Thr1712Pro)
c.1-43996A>C (n.1-43996A>C)
c.4390A>C (p.Thr1464Pro)
c.4936A>C (p.Thr1646Pro)
c.4753A>C (p.Thr1585Pro)
c.4474A>C (p.Thr1492Pro)
c.3517A>C (p.Thr1173Pro)
c.3508A>C (p.Thr1170Pro)
5g.37020582A>GCA359486955NIPBLc.5134A>G (p.Thr1712Ala)
c.1-43996A>G (n.1-43996A>G)
c.4390A>G (p.Thr1464Ala)
c.4936A>G (p.Thr1646Ala)
c.4753A>G (p.Thr1585Ala)
c.4474A>G (p.Thr1492Ala)
c.3517A>G (p.Thr1173Ala)
c.3508A>G (p.Thr1170Ala)
5g.37020582A>TCA359486952NIPBLc.5134A>T (p.Thr1712Ser)
c.1-43996A>T (n.1-43996A>T)
c.4390A>T (p.Thr1464Ser)
c.4936A>T (p.Thr1646Ser)
c.4753A>T (p.Thr1585Ser)
c.4474A>T (p.Thr1492Ser)
c.3517A>T (p.Thr1173Ser)
c.3508A>T (p.Thr1170Ser)
5g.37020583C>ACA359486957NIPBLc.5135C>A (p.Thr1712Lys)
c.1-43995C>A (n.1-43995C>A)
c.4391C>A (p.Thr1464Lys)
c.4937C>A (p.Thr1646Lys)
c.4754C>A (p.Thr1585Lys)
c.4475C>A (p.Thr1492Lys)
c.3518C>A (p.Thr1173Lys)
c.3509C>A (p.Thr1170Lys)
 gnomAD v4
5g.37020583C>GCA359486959NIPBLc.5135C>G (p.Thr1712Arg)
c.1-43995C>G (n.1-43995C>G)
c.4391C>G (p.Thr1464Arg)
c.4937C>G (p.Thr1646Arg)
c.4754C>G (p.Thr1585Arg)
c.4475C>G (p.Thr1492Arg)
c.3518C>G (p.Thr1173Arg)
c.3509C>G (p.Thr1170Arg)
5g.37020583C>TCA359486962NIPBLc.5135C>T (p.Thr1712Ile)
c.1-43995C>T (n.1-43995C>T)
c.4391C>T (p.Thr1464Ile)
c.4937C>T (p.Thr1646Ile)
c.4754C>T (p.Thr1585Ile)
c.4475C>T (p.Thr1492Ile)
c.3518C>T (p.Thr1173Ile)
c.3509C>T (p.Thr1170Ile)
 gnomAD v4
5g.37020584A>CCA443905016NIPBLc.5136A>C (p.Thr1712=)
c.1-43994A>C (n.1-43994A>C)
c.4392A>C (p.Thr1464=)
c.4938A>C (p.Thr1646=)
c.4755A>C (p.Thr1585=)
c.4476A>C (p.Thr1492=)
c.3519A>C (p.Thr1173=)
c.3510A>C (p.Thr1170=)
5g.37020584A>GCA443905017NIPBLc.5136A>G (p.Thr1712=)
c.1-43994A>G (n.1-43994A>G)
c.4392A>G (p.Thr1464=)
c.4938A>G (p.Thr1646=)
c.4755A>G (p.Thr1585=)
c.4476A>G (p.Thr1492=)
c.3519A>G (p.Thr1173=)
c.3510A>G (p.Thr1170=)
5g.37020584A>TCA443905018NIPBLc.5136A>T (p.Thr1712=)
c.1-43994A>T (n.1-43994A>T)
c.4392A>T (p.Thr1464=)
c.4938A>T (p.Thr1646=)
c.4755A>T (p.Thr1585=)
c.4476A>T (p.Thr1492=)
c.3519A>T (p.Thr1173=)
c.3510A>T (p.Thr1170=)
5g.37020585A=CA1539619262NIPBLc.5137A= (p.Thr1713=)
c.1-43993A= (n.1-43993A=)
c.4393A= (p.Thr1465=)
c.4939A= (p.Thr1647=)
c.4756A= (p.Thr1586=)
c.4477A= (p.Thr1493=)
c.3520A= (p.Thr1174=)
c.3511A= (p.Thr1171=)
5g.37020585A>CCA359486967NIPBLc.5137A>C (p.Thr1713Pro)
c.1-43993A>C (n.1-43993A>C)
c.4393A>C (p.Thr1465Pro)
c.4939A>C (p.Thr1647Pro)
c.4756A>C (p.Thr1586Pro)
c.4477A>C (p.Thr1493Pro)
c.3520A>C (p.Thr1174Pro)
c.3511A>C (p.Thr1171Pro)
5g.37020585A>GCA3236703NIPBLc.5137A>G (p.Thr1713Ala)
c.1-43993A>G (n.1-43993A>G)
c.4393A>G (p.Thr1465Ala)
c.4939A>G (p.Thr1647Ala)
c.4756A>G (p.Thr1586Ala)
c.4477A>G (p.Thr1493Ala)
c.3520A>G (p.Thr1174Ala)
c.3511A>G (p.Thr1171Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020585A>TCA359486971NIPBLc.5137A>T (p.Thr1713Ser)
c.1-43993A>T (n.1-43993A>T)
c.4393A>T (p.Thr1465Ser)
c.4939A>T (p.Thr1647Ser)
c.4756A>T (p.Thr1586Ser)
c.4477A>T (p.Thr1493Ser)
c.3520A>T (p.Thr1174Ser)
c.3511A>T (p.Thr1171Ser)
 gnomAD v4
5g.37020586C>ACA359486973NIPBLc.5138C>A (p.Thr1713Asn)
c.1-43992C>A (n.1-43992C>A)
c.4394C>A (p.Thr1465Asn)
c.4940C>A (p.Thr1647Asn)
c.4757C>A (p.Thr1586Asn)
c.4478C>A (p.Thr1493Asn)
c.3521C>A (p.Thr1174Asn)
c.3512C>A (p.Thr1171Asn)
5g.37020586C>GCA359486975NIPBLc.5138C>G (p.Thr1713Ser)
c.1-43992C>G (n.1-43992C>G)
c.4394C>G (p.Thr1465Ser)
c.4940C>G (p.Thr1647Ser)
c.4757C>G (p.Thr1586Ser)
c.4478C>G (p.Thr1493Ser)
c.3521C>G (p.Thr1174Ser)
c.3512C>G (p.Thr1171Ser)
5g.37020586C>TCA359486978NIPBLc.5138C>T (p.Thr1713Ile)
c.1-43992C>T (n.1-43992C>T)
c.4394C>T (p.Thr1465Ile)
c.4940C>T (p.Thr1647Ile)
c.4757C>T (p.Thr1586Ile)
c.4478C>T (p.Thr1493Ile)
c.3521C>T (p.Thr1174Ile)
c.3512C>T (p.Thr1171Ile)
 gnomAD v4

Number of alleles fetched