Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37038679C>ACA359498370NIPBLc.6049C>A (p.Pro2017Thr)
c.1-25899C>A (n.1-25899C>A)
c.5305C>A (p.Pro1769Thr)
c.5851C>A (p.Pro1951Thr)
c.5668C>A (p.Pro1890Thr)
c.5389C>A (p.Pro1797Thr)
c.4432C>A (p.Pro1478Thr)
c.4423C>A (p.Pro1475Thr)
5g.37038679C>GCA359498376NIPBLc.6049C>G (p.Pro2017Ala)
c.1-25899C>G (n.1-25899C>G)
c.5305C>G (p.Pro1769Ala)
c.5851C>G (p.Pro1951Ala)
c.5668C>G (p.Pro1890Ala)
c.5389C>G (p.Pro1797Ala)
c.4432C>G (p.Pro1478Ala)
c.4423C>G (p.Pro1475Ala)
5g.37038679C>TCA359498379NIPBLc.6049C>T (p.Pro2017Ser)
c.1-25899C>T (n.1-25899C>T)
c.5305C>T (p.Pro1769Ser)
c.5851C>T (p.Pro1951Ser)
c.5668C>T (p.Pro1890Ser)
c.5389C>T (p.Pro1797Ser)
c.4432C>T (p.Pro1478Ser)
c.4423C>T (p.Pro1475Ser)
5g.37038680C>ACA359498406NIPBLc.6050C>A (p.Pro2017His)
c.1-25898C>A (n.1-25898C>A)
c.5306C>A (p.Pro1769His)
c.5852C>A (p.Pro1951His)
c.5669C>A (p.Pro1890His)
c.5390C>A (p.Pro1797His)
c.4433C>A (p.Pro1478His)
c.4424C>A (p.Pro1475His)
5g.37038680C>GCA359498402NIPBLc.6050C>G (p.Pro2017Arg)
c.1-25898C>G (n.1-25898C>G)
c.5306C>G (p.Pro1769Arg)
c.5852C>G (p.Pro1951Arg)
c.5669C>G (p.Pro1890Arg)
c.5390C>G (p.Pro1797Arg)
c.4433C>G (p.Pro1478Arg)
c.4424C>G (p.Pro1475Arg)
5g.37038680C>TCA359498393NIPBLc.6050C>T (p.Pro2017Leu)
c.1-25898C>T (n.1-25898C>T)
c.5306C>T (p.Pro1769Leu)
c.5852C>T (p.Pro1951Leu)
c.5669C>T (p.Pro1890Leu)
c.5390C>T (p.Pro1797Leu)
c.4433C>T (p.Pro1478Leu)
c.4424C>T (p.Pro1475Leu)
5g.37038681C>ACA443905826NIPBLc.6051C>A (p.Pro2017=)
c.1-25897C>A (n.1-25897C>A)
c.5307C>A (p.Pro1769=)
c.5853C>A (p.Pro1951=)
c.5670C>A (p.Pro1890=)
c.5391C>A (p.Pro1797=)
c.4434C>A (p.Pro1478=)
c.4425C>A (p.Pro1475=)
 dbSNP gnomAD v3 gnomAD v4
5g.37038681C=CA1539611504NIPBLc.6051C= (p.Pro2017=)
c.1-25897C= (n.1-25897C=)
c.5307C= (p.Pro1769=)
c.5853C= (p.Pro1951=)
c.5670C= (p.Pro1890=)
c.5391C= (p.Pro1797=)
c.4434C= (p.Pro1478=)
c.4425C= (p.Pro1475=)
5g.37038681C>GCA117038359NIPBLc.6051C>G (p.Pro2017=)
c.1-25897C>G (n.1-25897C>G)
c.5307C>G (p.Pro1769=)
c.5853C>G (p.Pro1951=)
c.5670C>G (p.Pro1890=)
c.5391C>G (p.Pro1797=)
c.4434C>G (p.Pro1478=)
c.4425C>G (p.Pro1475=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37038681C>TCA443905827NIPBLc.6051C>T (p.Pro2017=)
c.1-25897C>T (n.1-25897C>T)
c.5307C>T (p.Pro1769=)
c.5853C>T (p.Pro1951=)
c.5670C>T (p.Pro1890=)
c.5391C>T (p.Pro1797=)
c.4434C>T (p.Pro1478=)
c.4425C>T (p.Pro1475=)
5g.37038682C>ACA359498410NIPBLc.6052C>A (p.Gln2018Lys)
c.1-25896C>A (n.1-25896C>A)
c.5308C>A (p.Gln1770Lys)
c.5854C>A (p.Gln1952Lys)
c.5671C>A (p.Gln1891Lys)
c.5392C>A (p.Gln1798Lys)
c.4435C>A (p.Gln1479Lys)
c.4426C>A (p.Gln1476Lys)
5g.37038682C>GCA359498412NIPBLc.6052C>G (p.Gln2018Glu)
c.1-25896C>G (n.1-25896C>G)
c.5308C>G (p.Gln1770Glu)
c.5854C>G (p.Gln1952Glu)
c.5671C>G (p.Gln1891Glu)
c.5392C>G (p.Gln1798Glu)
c.4435C>G (p.Gln1479Glu)
c.4426C>G (p.Gln1476Glu)
5g.37038682C>TCA359498415NIPBLc.6052C>T (p.Gln2018Ter)
c.1-25896C>T (n.1-25896C>T)
c.5308C>T (p.Gln1770Ter)
c.5854C>T (p.Gln1952Ter)
c.5671C>T (p.Gln1891Ter)
c.5392C>T (p.Gln1798Ter)
c.4435C>T (p.Gln1479Ter)
c.4426C>T (p.Gln1476Ter)
5g.37038683A>CCA359498419NIPBLc.6053A>C (p.Gln2018Pro)
c.1-25895A>C (n.1-25895A>C)
c.5309A>C (p.Gln1770Pro)
c.5855A>C (p.Gln1952Pro)
c.5672A>C (p.Gln1891Pro)
c.5393A>C (p.Gln1798Pro)
c.4436A>C (p.Gln1479Pro)
c.4427A>C (p.Gln1476Pro)
5g.37038683A>GCA359498422NIPBLc.6053A>G (p.Gln2018Arg)
c.1-25895A>G (n.1-25895A>G)
c.5309A>G (p.Gln1770Arg)
c.5855A>G (p.Gln1952Arg)
c.5672A>G (p.Gln1891Arg)
c.5393A>G (p.Gln1798Arg)
c.4436A>G (p.Gln1479Arg)
c.4427A>G (p.Gln1476Arg)
5g.37038683A>TCA359498426NIPBLc.6053A>T (p.Gln2018Leu)
c.1-25895A>T (n.1-25895A>T)
c.5309A>T (p.Gln1770Leu)
c.5855A>T (p.Gln1952Leu)
c.5672A>T (p.Gln1891Leu)
c.5393A>T (p.Gln1798Leu)
c.4436A>T (p.Gln1479Leu)
c.4427A>T (p.Gln1476Leu)
5g.37038684G>ACA443905828NIPBLc.6054G>A (p.Gln2018=)
c.1-25894G>A (n.1-25894G>A)
c.5310G>A (p.Gln1770=)
c.5856G>A (p.Gln1952=)
c.5673G>A (p.Gln1891=)
c.5394G>A (p.Gln1798=)
c.4437G>A (p.Gln1479=)
c.4428G>A (p.Gln1476=)
5g.37038684G>CCA359498447NIPBLc.6054G>C (p.Gln2018His)
c.1-25894G>C (n.1-25894G>C)
c.5310G>C (p.Gln1770His)
c.5856G>C (p.Gln1952His)
c.5673G>C (p.Gln1891His)
c.5394G>C (p.Gln1798His)
c.4437G>C (p.Gln1479His)
c.4428G>C (p.Gln1476His)
5g.37038684G>TCA359498456NIPBLc.6054G>T (p.Gln2018His)
c.1-25894G>T (n.1-25894G>T)
c.5310G>T (p.Gln1770His)
c.5856G>T (p.Gln1952His)
c.5673G>T (p.Gln1891His)
c.5394G>T (p.Gln1798His)
c.4437G>T (p.Gln1479His)
c.4428G>T (p.Gln1476His)
5g.37038685C>ACA359498459NIPBLc.6055C>A (p.Leu2019Ile)
c.1-25893C>A (n.1-25893C>A)
c.5311C>A (p.Leu1771Ile)
c.5857C>A (p.Leu1953Ile)
c.5674C>A (p.Leu1892Ile)
c.5395C>A (p.Leu1799Ile)
c.4438C>A (p.Leu1480Ile)
c.4429C>A (p.Leu1477Ile)
5g.37038685C>GCA359498464NIPBLc.6055C>G (p.Leu2019Val)
c.1-25893C>G (n.1-25893C>G)
c.5311C>G (p.Leu1771Val)
c.5857C>G (p.Leu1953Val)
c.5674C>G (p.Leu1892Val)
c.5395C>G (p.Leu1799Val)
c.4438C>G (p.Leu1480Val)
c.4429C>G (p.Leu1477Val)
5g.37038685C>TCA359498473NIPBLc.6055C>T (p.Leu2019Phe)
c.1-25893C>T (n.1-25893C>T)
c.5311C>T (p.Leu1771Phe)
c.5857C>T (p.Leu1953Phe)
c.5674C>T (p.Leu1892Phe)
c.5395C>T (p.Leu1799Phe)
c.4438C>T (p.Leu1480Phe)
c.4429C>T (p.Leu1477Phe)
5g.37038686T>ACA359498488NIPBLc.6056T>A (p.Leu2019His)
c.1-25892T>A (n.1-25892T>A)
c.5312T>A (p.Leu1771His)
c.5858T>A (p.Leu1953His)
c.5675T>A (p.Leu1892His)
c.5396T>A (p.Leu1799His)
c.4439T>A (p.Leu1480His)
c.4430T>A (p.Leu1477His)
5g.37038686T>CCA359498484NIPBLc.6056T>C (p.Leu2019Pro)
c.1-25892T>C (n.1-25892T>C)
c.5312T>C (p.Leu1771Pro)
c.5858T>C (p.Leu1953Pro)
c.5675T>C (p.Leu1892Pro)
c.5396T>C (p.Leu1799Pro)
c.4439T>C (p.Leu1480Pro)
c.4430T>C (p.Leu1477Pro)
5g.37038686T>GCA359498481NIPBLc.6056T>G (p.Leu2019Arg)
c.1-25892T>G (n.1-25892T>G)
c.5312T>G (p.Leu1771Arg)
c.5858T>G (p.Leu1953Arg)
c.5675T>G (p.Leu1892Arg)
c.5396T>G (p.Leu1799Arg)
c.4439T>G (p.Leu1480Arg)
c.4430T>G (p.Leu1477Arg)
5g.37038687C>ACA443905829NIPBLc.6057C>A (p.Leu2019=)
c.1-25891C>A (n.1-25891C>A)
c.5313C>A (p.Leu1771=)
c.5859C>A (p.Leu1953=)
c.5676C>A (p.Leu1892=)
c.5397C>A (p.Leu1799=)
c.4440C>A (p.Leu1480=)
c.4431C>A (p.Leu1477=)
5g.37038687C=CA1539611507NIPBLc.6057C= (p.Leu2019=)
c.1-25891C= (n.1-25891C=)
c.5313C= (p.Leu1771=)
c.5859C= (p.Leu1953=)
c.5676C= (p.Leu1892=)
c.5397C= (p.Leu1799=)
c.4440C= (p.Leu1480=)
c.4431C= (p.Leu1477=)
5g.37038687C>GCA443905830NIPBLc.6057C>G (p.Leu2019=)
c.1-25891C>G (n.1-25891C>G)
c.5313C>G (p.Leu1771=)
c.5859C>G (p.Leu1953=)
c.5676C>G (p.Leu1892=)
c.5397C>G (p.Leu1799=)
c.4440C>G (p.Leu1480=)
c.4431C>G (p.Leu1477=)
5g.37038687C>TCA179886NIPBLc.6057C>T (p.Leu2019=)
c.1-25891C>T (n.1-25891C>T)
c.5313C>T (p.Leu1771=)
c.5859C>T (p.Leu1953=)
c.5676C>T (p.Leu1892=)
c.5397C>T (p.Leu1799=)
c.4440C>T (p.Leu1480=)
c.4431C>T (p.Leu1477=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.37038688A>CCA359498496NIPBLc.6058A>C (p.Met2020Leu)
c.1-25890A>C (n.1-25890A>C)
c.5314A>C (p.Met1772Leu)
c.5860A>C (p.Met1954Leu)
c.5677A>C (p.Met1893Leu)
c.5398A>C (p.Met1800Leu)
c.4441A>C (p.Met1481Leu)
c.4432A>C (p.Met1478Leu)
 gnomAD v4
5g.37038688A>GCA359498498NIPBLc.6058A>G (p.Met2020Val)
c.1-25890A>G (n.1-25890A>G)
c.5314A>G (p.Met1772Val)
c.5860A>G (p.Met1954Val)
c.5677A>G (p.Met1893Val)
c.5398A>G (p.Met1800Val)
c.4441A>G (p.Met1481Val)
c.4432A>G (p.Met1478Val)
 gnomAD v4
5g.37038688A>TCA359498502NIPBLc.6058A>T (p.Met2020Leu)
c.1-25890A>T (n.1-25890A>T)
c.5314A>T (p.Met1772Leu)
c.5860A>T (p.Met1954Leu)
c.5677A>T (p.Met1893Leu)
c.5398A>T (p.Met1800Leu)
c.4441A>T (p.Met1481Leu)
c.4432A>T (p.Met1478Leu)
5g.37038689T>ACA359498505NIPBLc.6059T>A (p.Met2020Lys)
c.1-25889T>A (n.1-25889T>A)
c.5315T>A (p.Met1772Lys)
c.5861T>A (p.Met1954Lys)
c.5678T>A (p.Met1893Lys)
c.5399T>A (p.Met1800Lys)
c.4442T>A (p.Met1481Lys)
c.4433T>A (p.Met1478Lys)
5g.37038689T>CCA359498508NIPBLc.6059T>C (p.Met2020Thr)
c.1-25889T>C (n.1-25889T>C)
c.5315T>C (p.Met1772Thr)
c.5861T>C (p.Met1954Thr)
c.5678T>C (p.Met1893Thr)
c.5399T>C (p.Met1800Thr)
c.4442T>C (p.Met1481Thr)
c.4433T>C (p.Met1478Thr)
5g.37038689T>GCA359498511NIPBLc.6059T>G (p.Met2020Arg)
c.1-25889T>G (n.1-25889T>G)
c.5315T>G (p.Met1772Arg)
c.5861T>G (p.Met1954Arg)
c.5678T>G (p.Met1893Arg)
c.5399T>G (p.Met1800Arg)
c.4442T>G (p.Met1481Arg)
c.4433T>G (p.Met1478Arg)
5g.37038690G>ACA359498521NIPBLc.6060G>A (p.Met2020Ile)
c.1-25888G>A (n.1-25888G>A)
c.5316G>A (p.Met1772Ile)
c.5862G>A (p.Met1954Ile)
c.5679G>A (p.Met1893Ile)
c.5400G>A (p.Met1800Ile)
c.4443G>A (p.Met1481Ile)
c.4434G>A (p.Met1478Ile)
5g.37038690G>CCA359498525NIPBLc.6060G>C (p.Met2020Ile)
c.1-25888G>C (n.1-25888G>C)
c.5316G>C (p.Met1772Ile)
c.5862G>C (p.Met1954Ile)
c.5679G>C (p.Met1893Ile)
c.5400G>C (p.Met1800Ile)
c.4443G>C (p.Met1481Ile)
c.4434G>C (p.Met1478Ile)
5g.37038690G>TCA359498528NIPBLc.6060G>T (p.Met2020Ile)
c.1-25888G>T (n.1-25888G>T)
c.5316G>T (p.Met1772Ile)
c.5862G>T (p.Met1954Ile)
c.5679G>T (p.Met1893Ile)
c.5400G>T (p.Met1800Ile)
c.4443G>T (p.Met1481Ile)
c.4434G>T (p.Met1478Ile)
5g.37038691G>ACA359498534NIPBLc.6061G>A (p.Val2021Ile)
c.1-25887G>A (n.1-25887G>A)
c.5317G>A (p.Val1773Ile)
c.5863G>A (p.Val1955Ile)
c.5680G>A (p.Val1894Ile)
c.5401G>A (p.Val1801Ile)
c.4444G>A (p.Val1482Ile)
c.4435G>A (p.Val1479Ile)
5g.37038691G>CCA359498538NIPBLc.6061G>C (p.Val2021Leu)
c.1-25887G>C (n.1-25887G>C)
c.5317G>C (p.Val1773Leu)
c.5863G>C (p.Val1955Leu)
c.5680G>C (p.Val1894Leu)
c.5401G>C (p.Val1801Leu)
c.4444G>C (p.Val1482Leu)
c.4435G>C (p.Val1479Leu)
5g.37038691G>TCA359498541NIPBLc.6061G>T (p.Val2021Phe)
c.1-25887G>T (n.1-25887G>T)
c.5317G>T (p.Val1773Phe)
c.5863G>T (p.Val1955Phe)
c.5680G>T (p.Val1894Phe)
c.5401G>T (p.Val1801Phe)
c.4444G>T (p.Val1482Phe)
c.4435G>T (p.Val1479Phe)
5g.37038692T>ACA359498551NIPBLc.6062T>A (p.Val2021Asp)
c.1-25886T>A (n.1-25886T>A)
c.5318T>A (p.Val1773Asp)
c.5864T>A (p.Val1955Asp)
c.5681T>A (p.Val1894Asp)
c.5402T>A (p.Val1801Asp)
c.4445T>A (p.Val1482Asp)
c.4436T>A (p.Val1479Asp)
5g.37038692T>CCA359498556NIPBLc.6062T>C (p.Val2021Ala)
c.1-25886T>C (n.1-25886T>C)
c.5318T>C (p.Val1773Ala)
c.5864T>C (p.Val1955Ala)
c.5681T>C (p.Val1894Ala)
c.5402T>C (p.Val1801Ala)
c.4445T>C (p.Val1482Ala)
c.4436T>C (p.Val1479Ala)
5g.37038692T>GCA359498547NIPBLc.6062T>G (p.Val2021Gly)
c.1-25886T>G (n.1-25886T>G)
c.5318T>G (p.Val1773Gly)
c.5864T>G (p.Val1955Gly)
c.5681T>G (p.Val1894Gly)
c.5402T>G (p.Val1801Gly)
c.4445T>G (p.Val1482Gly)
c.4436T>G (p.Val1479Gly)
5g.37038693T>ACA443905834NIPBLc.6063T>A (p.Val2021=)
c.1-25885T>A (n.1-25885T>A)
c.5319T>A (p.Val1773=)
c.5865T>A (p.Val1955=)
c.5682T>A (p.Val1894=)
c.5403T>A (p.Val1801=)
c.4446T>A (p.Val1482=)
c.4437T>A (p.Val1479=)
5g.37038693T>CCA443905831NIPBLc.6063T>C (p.Val2021=)
c.1-25885T>C (n.1-25885T>C)
c.5319T>C (p.Val1773=)
c.5865T>C (p.Val1955=)
c.5682T>C (p.Val1894=)
c.5403T>C (p.Val1801=)
c.4446T>C (p.Val1482=)
c.4437T>C (p.Val1479=)
5g.37038693T>GCA443905832NIPBLc.6063T>G (p.Val2021=)
c.1-25885T>G (n.1-25885T>G)
c.5319T>G (p.Val1773=)
c.5865T>G (p.Val1955=)
c.5682T>G (p.Val1894=)
c.5403T>G (p.Val1801=)
c.4446T>G (p.Val1482=)
c.4437T>G (p.Val1479=)
5g.37038694_37038699delCA2695204437NIPBLc.6064_6069del (p.Lys2022_His2023del)
c.1-25884_1-25879del (n.1-25884_1-25879del)
c.5320_5325del (p.Lys1774_His1775del)
c.5866_5871del (p.Lys1956_His1957del)
c.5683_5688del (p.Lys1895_His1896del)
c.5404_5409del (p.Lys1802_His1803del)
c.4447_4452del (p.Lys1483_His1484del)
c.4438_4443del (p.Lys1480_His1481del)
5g.37038694A>CCA359498563NIPBLc.6064A>C (p.Lys2022Gln)
c.1-25884A>C (n.1-25884A>C)
c.5320A>C (p.Lys1774Gln)
c.5866A>C (p.Lys1956Gln)
c.5683A>C (p.Lys1895Gln)
c.5404A>C (p.Lys1802Gln)
c.4447A>C (p.Lys1483Gln)
c.4438A>C (p.Lys1480Gln)
5g.37038694A>GCA359498557NIPBLc.6064A>G (p.Lys2022Glu)
c.1-25884A>G (n.1-25884A>G)
c.5320A>G (p.Lys1774Glu)
c.5866A>G (p.Lys1956Glu)
c.5683A>G (p.Lys1895Glu)
c.5404A>G (p.Lys1802Glu)
c.4447A>G (p.Lys1483Glu)
c.4438A>G (p.Lys1480Glu)

Number of alleles fetched