Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37052373C>ACA359511052NIPBLc.7070C>A (p.Ala2357Glu)
n.952C>A
c.1-12205C>A (n.1-12205C>A)
c.6326C>A (p.Ala2109Glu)
c.6872C>A (p.Ala2291Glu)
c.6689C>A (p.Ala2230Glu)
c.6410C>A (p.Ala2137Glu)
c.5453C>A (p.Ala1818Glu)
c.5444C>A (p.Ala1815Glu)
5g.37052373C>GCA359511056NIPBLc.7070C>G (p.Ala2357Gly)
n.952C>G
c.1-12205C>G (n.1-12205C>G)
c.6326C>G (p.Ala2109Gly)
c.6872C>G (p.Ala2291Gly)
c.6689C>G (p.Ala2230Gly)
c.6410C>G (p.Ala2137Gly)
c.5453C>G (p.Ala1818Gly)
c.5444C>G (p.Ala1815Gly)
5g.37052373C>TCA359511057NIPBLc.7070C>T (p.Ala2357Val)
n.952C>T
c.1-12205C>T (n.1-12205C>T)
c.6326C>T (p.Ala2109Val)
c.6872C>T (p.Ala2291Val)
c.6689C>T (p.Ala2230Val)
c.6410C>T (p.Ala2137Val)
c.5453C>T (p.Ala1818Val)
c.5444C>T (p.Ala1815Val)
5g.37052374A>CCA443911267NIPBLc.7071A>C (p.Ala2357=)
n.953A>C
c.1-12204A>C (n.1-12204A>C)
c.6327A>C (p.Ala2109=)
c.6873A>C (p.Ala2291=)
c.6690A>C (p.Ala2230=)
c.6411A>C (p.Ala2137=)
c.5454A>C (p.Ala1818=)
c.5445A>C (p.Ala1815=)
5g.37052374A>GCA443911269NIPBLc.7071A>G (p.Ala2357=)
n.953A>G
c.1-12204A>G (n.1-12204A>G)
c.6327A>G (p.Ala2109=)
c.6873A>G (p.Ala2291=)
c.6690A>G (p.Ala2230=)
c.6411A>G (p.Ala2137=)
c.5454A>G (p.Ala1818=)
c.5445A>G (p.Ala1815=)
 gnomAD v4
5g.37052374A>TCA443911271NIPBLc.7071A>T (p.Ala2357=)
n.953A>T
c.1-12204A>T (n.1-12204A>T)
c.6327A>T (p.Ala2109=)
c.6873A>T (p.Ala2291=)
c.6690A>T (p.Ala2230=)
c.6411A>T (p.Ala2137=)
c.5454A>T (p.Ala1818=)
c.5445A>T (p.Ala1815=)
5g.37052374_37052377delCA2506879002NIPBLc.7071_7074del (p.Val2358LeufsTer3)
n.953_956del
c.1-12204_1-12201del (n.1-12204_1-12201del)
c.6327_6330del (p.Val2110LeufsTer3)
c.6873_6876del (p.Val2292LeufsTer3)
c.6690_6693del (p.Val2231LeufsTer3)
c.6411_6414del (p.Val2138LeufsTer3)
c.5454_5457del (p.Val1819LeufsTer3)
c.5445_5448del (p.Val1816LeufsTer3)
5g.37052375G>ACA359511064NIPBLc.7072G>A (p.Val2358Met)
n.954G>A
c.1-12203G>A (n.1-12203G>A)
c.6328G>A (p.Val2110Met)
c.6874G>A (p.Val2292Met)
c.6691G>A (p.Val2231Met)
c.6412G>A (p.Val2138Met)
c.5455G>A (p.Val1819Met)
c.5446G>A (p.Val1816Met)
5g.37052375G>CCA359511061NIPBLc.7072G>C (p.Val2358Leu)
n.954G>C
c.1-12203G>C (n.1-12203G>C)
c.6328G>C (p.Val2110Leu)
c.6874G>C (p.Val2292Leu)
c.6691G>C (p.Val2231Leu)
c.6412G>C (p.Val2138Leu)
c.5455G>C (p.Val1819Leu)
c.5446G>C (p.Val1816Leu)
 gnomAD v4
5g.37052375G>TCA359511060NIPBLc.7072G>T (p.Val2358Leu)
n.954G>T
c.1-12203G>T (n.1-12203G>T)
c.6328G>T (p.Val2110Leu)
c.6874G>T (p.Val2292Leu)
c.6691G>T (p.Val2231Leu)
c.6412G>T (p.Val2138Leu)
c.5455G>T (p.Val1819Leu)
c.5446G>T (p.Val1816Leu)
5g.37052376T>ACA359511067NIPBLc.7073T>A (p.Val2358Glu)
n.955T>A
c.1-12202T>A (n.1-12202T>A)
c.6329T>A (p.Val2110Glu)
c.6875T>A (p.Val2292Glu)
c.6692T>A (p.Val2231Glu)
c.6413T>A (p.Val2138Glu)
c.5456T>A (p.Val1819Glu)
c.5447T>A (p.Val1816Glu)
5g.37052376T>CCA359511069NIPBLc.7073T>C (p.Val2358Ala)
n.955T>C
c.1-12202T>C (n.1-12202T>C)
c.6329T>C (p.Val2110Ala)
c.6875T>C (p.Val2292Ala)
c.6692T>C (p.Val2231Ala)
c.6413T>C (p.Val2138Ala)
c.5456T>C (p.Val1819Ala)
c.5447T>C (p.Val1816Ala)
5g.37052376T>GCA359511071NIPBLc.7073T>G (p.Val2358Gly)
n.955T>G
c.1-12202T>G (n.1-12202T>G)
c.6329T>G (p.Val2110Gly)
c.6875T>G (p.Val2292Gly)
c.6692T>G (p.Val2231Gly)
c.6413T>G (p.Val2138Gly)
c.5456T>G (p.Val1819Gly)
c.5447T>G (p.Val1816Gly)
5g.37052377G>ACA443911283NIPBLc.7074G>A (p.Val2358=)
n.956G>A
c.1-12201G>A (n.1-12201G>A)
c.6330G>A (p.Val2110=)
c.6876G>A (p.Val2292=)
c.6693G>A (p.Val2231=)
c.6414G>A (p.Val2138=)
c.5457G>A (p.Val1819=)
c.5448G>A (p.Val1816=)
5g.37052377G>CCA443911285NIPBLc.7074G>C (p.Val2358=)
n.956G>C
c.1-12201G>C (n.1-12201G>C)
c.6330G>C (p.Val2110=)
c.6876G>C (p.Val2292=)
c.6693G>C (p.Val2231=)
c.6414G>C (p.Val2138=)
c.5457G>C (p.Val1819=)
c.5448G>C (p.Val1816=)
5g.37052377G>TCA443911288NIPBLc.7074G>T (p.Val2358=)
n.956G>T
c.1-12201G>T (n.1-12201G>T)
c.6330G>T (p.Val2110=)
c.6876G>T (p.Val2292=)
c.6693G>T (p.Val2231=)
c.6414G>T (p.Val2138=)
c.5457G>T (p.Val1819=)
c.5448G>T (p.Val1816=)
5g.37052378G>ACA359511073NIPBLc.7075G>A (p.Ala2359Thr)
n.957G>A
c.1-12200G>A (n.1-12200G>A)
c.6331G>A (p.Ala2111Thr)
c.6877G>A (p.Ala2293Thr)
c.6694G>A (p.Ala2232Thr)
c.6415G>A (p.Ala2139Thr)
c.5458G>A (p.Ala1820Thr)
c.5449G>A (p.Ala1817Thr)
5g.37052378G>CCA359511075NIPBLc.7075G>C (p.Ala2359Pro)
n.957G>C
c.1-12200G>C (n.1-12200G>C)
c.6331G>C (p.Ala2111Pro)
c.6877G>C (p.Ala2293Pro)
c.6694G>C (p.Ala2232Pro)
c.6415G>C (p.Ala2139Pro)
c.5458G>C (p.Ala1820Pro)
c.5449G>C (p.Ala1817Pro)
5g.37052378G>TCA359511076NIPBLc.7075G>T (p.Ala2359Ser)
n.957G>T
c.1-12200G>T (n.1-12200G>T)
c.6331G>T (p.Ala2111Ser)
c.6877G>T (p.Ala2293Ser)
c.6694G>T (p.Ala2232Ser)
c.6415G>T (p.Ala2139Ser)
c.5458G>T (p.Ala1820Ser)
c.5449G>T (p.Ala1817Ser)
5g.37052379C>ACA359511077NIPBLc.7076C>A (p.Ala2359Asp)
n.958C>A
c.1-12199C>A (n.1-12199C>A)
c.6332C>A (p.Ala2111Asp)
c.6878C>A (p.Ala2293Asp)
c.6695C>A (p.Ala2232Asp)
c.6416C>A (p.Ala2139Asp)
c.5459C>A (p.Ala1820Asp)
c.5450C>A (p.Ala1817Asp)
5g.37052379C=CA1539572081NIPBLc.7076C= (p.Ala2359=)
n.958C=
c.1-12199C= (n.1-12199C=)
c.6332C= (p.Ala2111=)
c.6878C= (p.Ala2293=)
c.6695C= (p.Ala2232=)
c.6416C= (p.Ala2139=)
c.5459C= (p.Ala1820=)
c.5450C= (p.Ala1817=)
5g.37052379C>GCA359511079NIPBLc.7076C>G (p.Ala2359Gly)
n.958C>G
c.1-12199C>G (n.1-12199C>G)
c.6332C>G (p.Ala2111Gly)
c.6878C>G (p.Ala2293Gly)
c.6695C>G (p.Ala2232Gly)
c.6416C>G (p.Ala2139Gly)
c.5459C>G (p.Ala1820Gly)
c.5450C>G (p.Ala1817Gly)
 dbSNP gnomAD v4
5g.37052379C>TCA359511078NIPBLc.7076C>T (p.Ala2359Val)
n.958C>T
c.1-12199C>T (n.1-12199C>T)
c.6332C>T (p.Ala2111Val)
c.6878C>T (p.Ala2293Val)
c.6695C>T (p.Ala2232Val)
c.6416C>T (p.Ala2139Val)
c.5459C>T (p.Ala1820Val)
c.5450C>T (p.Ala1817Val)
 gnomAD v4
5g.37052380T>ACA443911298NIPBLc.7077T>A (p.Ala2359=)
n.959T>A
c.1-12198T>A (n.1-12198T>A)
c.6333T>A (p.Ala2111=)
c.6879T>A (p.Ala2293=)
c.6696T>A (p.Ala2232=)
c.6417T>A (p.Ala2139=)
c.5460T>A (p.Ala1820=)
c.5451T>A (p.Ala1817=)
5g.37052380T>CCA3237137NIPBLc.7077T>C (p.Ala2359=)
n.959T>C
c.1-12198T>C (n.1-12198T>C)
c.6333T>C (p.Ala2111=)
c.6879T>C (p.Ala2293=)
c.6696T>C (p.Ala2232=)
c.6417T>C (p.Ala2139=)
c.5460T>C (p.Ala1820=)
c.5451T>C (p.Ala1817=)
 dbSNP ExAC
5g.37052380T>GCA443911301NIPBLc.7077T>G (p.Ala2359=)
n.959T>G
c.1-12198T>G (n.1-12198T>G)
c.6333T>G (p.Ala2111=)
c.6879T>G (p.Ala2293=)
c.6696T>G (p.Ala2232=)
c.6417T>G (p.Ala2139=)
c.5460T>G (p.Ala1820=)
c.5451T>G (p.Ala1817=)
5g.37052380T=CA1539572086NIPBLc.7077T= (p.Ala2359=)
n.959T=
c.1-12198T= (n.1-12198T=)
c.6333T= (p.Ala2111=)
c.6879T= (p.Ala2293=)
c.6696T= (p.Ala2232=)
c.6417T= (p.Ala2139=)
c.5460T= (p.Ala1820=)
c.5451T= (p.Ala1817=)
5g.37052381G>ACA359511081NIPBLc.7078G>A (p.Gly2360Ser)
n.960G>A
c.1-12197G>A (n.1-12197G>A)
c.6334G>A (p.Gly2112Ser)
c.6880G>A (p.Gly2294Ser)
c.6697G>A (p.Gly2233Ser)
c.6418G>A (p.Gly2140Ser)
c.5461G>A (p.Gly1821Ser)
c.5452G>A (p.Gly1818Ser)
5g.37052381G>CCA359511082NIPBLc.7078G>C (p.Gly2360Arg)
n.960G>C
c.1-12197G>C (n.1-12197G>C)
c.6334G>C (p.Gly2112Arg)
c.6880G>C (p.Gly2294Arg)
c.6697G>C (p.Gly2233Arg)
c.6418G>C (p.Gly2140Arg)
c.5461G>C (p.Gly1821Arg)
c.5452G>C (p.Gly1818Arg)
5g.37052381G>TCA359511084NIPBLc.7078G>T (p.Gly2360Cys)
n.960G>T
c.1-12197G>T (n.1-12197G>T)
c.6334G>T (p.Gly2112Cys)
c.6880G>T (p.Gly2294Cys)
c.6697G>T (p.Gly2233Cys)
c.6418G>T (p.Gly2140Cys)
c.5461G>T (p.Gly1821Cys)
c.5452G>T (p.Gly1818Cys)
5g.37052381_37052382insCTTACAAATTCA2512060369NIPBLc.7078_7079insCTTACAAATT (p.Gly2360AlafsTer33)
n.960_961insCTTACAAATT
c.1-12197_1-12196insCTTACAAATT (n.1-12197_1-12196insCTTACAAATT)
c.6334_6335insCTTACAAATT (p.Gly2112AlafsTer33)
c.6880_6881insCTTACAAATT (p.Gly2294AlafsTer33)
c.6697_6698insCTTACAAATT (p.Gly2233AlafsTer33)
c.6418_6419insCTTACAAATT (p.Gly2140AlafsTer33)
c.5461_5462insCTTACAAATT (p.Gly1821AlafsTer33)
c.5452_5453insCTTACAAATT (p.Gly1818AlafsTer33)
5g.37052382G>ACA359511090NIPBLc.7079G>A (p.Gly2360Asp)
n.961G>A
c.1-12196G>A (n.1-12196G>A)
c.6335G>A (p.Gly2112Asp)
c.6881G>A (p.Gly2294Asp)
c.6698G>A (p.Gly2233Asp)
c.6419G>A (p.Gly2140Asp)
c.5462G>A (p.Gly1821Asp)
c.5453G>A (p.Gly1818Asp)
 ClinVar dbSNP
5g.37052382G>CCA359511094NIPBLc.7079G>C (p.Gly2360Ala)
n.961G>C
c.1-12196G>C (n.1-12196G>C)
c.6335G>C (p.Gly2112Ala)
c.6881G>C (p.Gly2294Ala)
c.6698G>C (p.Gly2233Ala)
c.6419G>C (p.Gly2140Ala)
c.5462G>C (p.Gly1821Ala)
c.5453G>C (p.Gly1818Ala)
5g.37052382G>TCA359511095NIPBLc.7079G>T (p.Gly2360Val)
n.961G>T
c.1-12196G>T (n.1-12196G>T)
c.6335G>T (p.Gly2112Val)
c.6881G>T (p.Gly2294Val)
c.6698G>T (p.Gly2233Val)
c.6419G>T (p.Gly2140Val)
c.5462G>T (p.Gly1821Val)
c.5453G>T (p.Gly1818Val)
5g.37052382_37052383insAAATCA2506877374NIPBLc.7079_7080insAAAT (p.Met2361AsnfsTer30)
n.961_962insAAAT
c.1-12196_1-12195insAAAT (n.1-12196_1-12195insAAAT)
c.6335_6336insAAAT (p.Met2113AsnfsTer30)
c.6881_6882insAAAT (p.Met2295AsnfsTer30)
c.6698_6699insAAAT (p.Met2234AsnfsTer30)
c.6419_6420insAAAT (p.Met2141AsnfsTer30)
c.5462_5463insAAAT (p.Met1822AsnfsTer30)
c.5453_5454insAAAT (p.Met1819AsnfsTer30)
5g.37052383T>ACA443911314NIPBLc.7080T>A (p.Gly2360=)
n.962T>A
c.1-12195T>A (n.1-12195T>A)
c.6336T>A (p.Gly2112=)
c.6882T>A (p.Gly2294=)
c.6699T>A (p.Gly2233=)
c.6420T>A (p.Gly2140=)
c.5463T>A (p.Gly1821=)
c.5454T>A (p.Gly1818=)
5g.37052383T>CCA443911319NIPBLc.7080T>C (p.Gly2360=)
n.962T>C
c.1-12195T>C (n.1-12195T>C)
c.6336T>C (p.Gly2112=)
c.6882T>C (p.Gly2294=)
c.6699T>C (p.Gly2233=)
c.6420T>C (p.Gly2140=)
c.5463T>C (p.Gly1821=)
c.5454T>C (p.Gly1818=)
5g.37052383T>GCA3237138NIPBLc.7080T>G (p.Gly2360=)
n.962T>G
c.1-12195T>G (n.1-12195T>G)
c.6336T>G (p.Gly2112=)
c.6882T>G (p.Gly2294=)
c.6699T>G (p.Gly2233=)
c.6420T>G (p.Gly2140=)
c.5463T>G (p.Gly1821=)
c.5454T>G (p.Gly1818=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37052383T=CA1539572088NIPBLc.7080T= (p.Gly2360=)
n.962T=
c.1-12195T= (n.1-12195T=)
c.6336T= (p.Gly2112=)
c.6882T= (p.Gly2294=)
c.6699T= (p.Gly2233=)
c.6420T= (p.Gly2140=)
c.5463T= (p.Gly1821=)
c.5454T= (p.Gly1818=)
5g.37052384A=CA1539572096NIPBLc.7081A= (p.Met2361=)
n.963A=
c.1-12194A= (n.1-12194A=)
c.6337A= (p.Met2113=)
c.6883A= (p.Met2295=)
c.6700A= (p.Met2234=)
c.6421A= (p.Met2141=)
c.5464A= (p.Met1822=)
c.5455A= (p.Met1819=)
5g.37052384A>CCA359511097NIPBLc.7081A>C (p.Met2361Leu)
n.963A>C
c.1-12194A>C (n.1-12194A>C)
c.6337A>C (p.Met2113Leu)
c.6883A>C (p.Met2295Leu)
c.6700A>C (p.Met2234Leu)
c.6421A>C (p.Met2141Leu)
c.5464A>C (p.Met1822Leu)
c.5455A>C (p.Met1819Leu)
5g.37052384A>GCA359511098NIPBLc.7081A>G (p.Met2361Val)
n.963A>G
c.1-12194A>G (n.1-12194A>G)
c.6337A>G (p.Met2113Val)
c.6883A>G (p.Met2295Val)
c.6700A>G (p.Met2234Val)
c.6421A>G (p.Met2141Val)
c.5464A>G (p.Met1822Val)
c.5455A>G (p.Met1819Val)
 dbSNP gnomAD v2 gnomAD v4
5g.37052384A>TCA359511099NIPBLc.7081A>T (p.Met2361Leu)
n.963A>T
c.1-12194A>T (n.1-12194A>T)
c.6337A>T (p.Met2113Leu)
c.6883A>T (p.Met2295Leu)
c.6700A>T (p.Met2234Leu)
c.6421A>T (p.Met2141Leu)
c.5464A>T (p.Met1822Leu)
c.5455A>T (p.Met1819Leu)
 dbSNP
5g.37052385T>ACA359511100NIPBLc.7082T>A (p.Met2361Lys)
n.964T>A
c.1-12193T>A (n.1-12193T>A)
c.6338T>A (p.Met2113Lys)
c.6884T>A (p.Met2295Lys)
c.6701T>A (p.Met2234Lys)
c.6422T>A (p.Met2141Lys)
c.5465T>A (p.Met1822Lys)
c.5456T>A (p.Met1819Lys)
5g.37052385T>CCA359511102NIPBLc.7082T>C (p.Met2361Thr)
n.964T>C
c.1-12193T>C (n.1-12193T>C)
c.6338T>C (p.Met2113Thr)
c.6884T>C (p.Met2295Thr)
c.6701T>C (p.Met2234Thr)
c.6422T>C (p.Met2141Thr)
c.5465T>C (p.Met1822Thr)
c.5456T>C (p.Met1819Thr)
5g.37052385T>GCA359511101NIPBLc.7082T>G (p.Met2361Arg)
n.964T>G
c.1-12193T>G (n.1-12193T>G)
c.6338T>G (p.Met2113Arg)
c.6884T>G (p.Met2295Arg)
c.6701T>G (p.Met2234Arg)
c.6422T>G (p.Met2141Arg)
c.5465T>G (p.Met1822Arg)
c.5456T>G (p.Met1819Arg)
5g.37052385_37052386insAAAACACA2514751731NIPBLc.7082_7083insAAAACA (p.Met2361delinsIleLysGln)
n.964_965insAAAACA
c.1-12193_1-12192insAAAACA (n.1-12193_1-12192insAAAACA)
c.6338_6339insAAAACA (p.Met2113delinsIleLysGln)
c.6884_6885insAAAACA (p.Met2295delinsIleLysGln)
c.6701_6702insAAAACA (p.Met2234delinsIleLysGln)
c.6422_6423insAAAACA (p.Met2141delinsIleLysGln)
c.5465_5466insAAAACA (p.Met1822delinsIleLysGln)
c.5456_5457insAAAACA (p.Met1819delinsIleLysGln)
5g.37052386G>ACA359511103NIPBLc.7083G>A (p.Met2361Ile)
n.965G>A
c.1-12192G>A (n.1-12192G>A)
c.6339G>A (p.Met2113Ile)
c.6885G>A (p.Met2295Ile)
c.6702G>A (p.Met2234Ile)
c.6423G>A (p.Met2141Ile)
c.5466G>A (p.Met1822Ile)
c.5457G>A (p.Met1819Ile)
5g.37052386G>CCA359511104NIPBLc.7083G>C (p.Met2361Ile)
n.965G>C
c.1-12192G>C (n.1-12192G>C)
c.6339G>C (p.Met2113Ile)
c.6885G>C (p.Met2295Ile)
c.6702G>C (p.Met2234Ile)
c.6423G>C (p.Met2141Ile)
c.5466G>C (p.Met1822Ile)
c.5457G>C (p.Met1819Ile)
5g.37052386G>TCA359511106NIPBLc.7083G>T (p.Met2361Ile)
n.965G>T
c.1-12192G>T (n.1-12192G>T)
c.6339G>T (p.Met2113Ile)
c.6885G>T (p.Met2295Ile)
c.6702G>T (p.Met2234Ile)
c.6423G>T (p.Met2141Ile)
c.5466G>T (p.Met1822Ile)
c.5457G>T (p.Met1819Ile)
5g.37052387A>CCA359511107NIPBLc.7084A>C (p.Lys2362Gln)
n.966A>C
c.1-12191A>C (n.1-12191A>C)
c.6340A>C (p.Lys2114Gln)
c.6886A>C (p.Lys2296Gln)
c.6703A>C (p.Lys2235Gln)
c.6424A>C (p.Lys2142Gln)
c.5467A>C (p.Lys1823Gln)
c.5458A>C (p.Lys1820Gln)
5g.37052387A>GCA359511108NIPBLc.7084A>G (p.Lys2362Glu)
n.966A>G
c.1-12191A>G (n.1-12191A>G)
c.6340A>G (p.Lys2114Glu)
c.6886A>G (p.Lys2296Glu)
c.6703A>G (p.Lys2235Glu)
c.6424A>G (p.Lys2142Glu)
c.5467A>G (p.Lys1823Glu)
c.5458A>G (p.Lys1820Glu)
5g.37052387A>TCA359511109NIPBLc.7084A>T (p.Lys2362Ter)
n.966A>T
c.1-12191A>T (n.1-12191A>T)
c.6340A>T (p.Lys2114Ter)
c.6886A>T (p.Lys2296Ter)
c.6703A>T (p.Lys2235Ter)
c.6424A>T (p.Lys2142Ter)
c.5467A>T (p.Lys1823Ter)
c.5458A>T (p.Lys1820Ter)
5g.37052388A>CCA359511110NIPBLc.7085A>C (p.Lys2362Thr)
n.967A>C
c.1-12190A>C (n.1-12190A>C)
c.6341A>C (p.Lys2114Thr)
c.6887A>C (p.Lys2296Thr)
c.6704A>C (p.Lys2235Thr)
c.6425A>C (p.Lys2142Thr)
c.5468A>C (p.Lys1823Thr)
c.5459A>C (p.Lys1820Thr)
5g.37052388A>GCA359511111NIPBLc.7085A>G (p.Lys2362Arg)
n.967A>G
c.1-12190A>G (n.1-12190A>G)
c.6341A>G (p.Lys2114Arg)
c.6887A>G (p.Lys2296Arg)
c.6704A>G (p.Lys2235Arg)
c.6425A>G (p.Lys2142Arg)
c.5468A>G (p.Lys1823Arg)
c.5459A>G (p.Lys1820Arg)
5g.37052388A>TCA359511113NIPBLc.7085A>T (p.Lys2362Met)
n.967A>T
c.1-12190A>T (n.1-12190A>T)
c.6341A>T (p.Lys2114Met)
c.6887A>T (p.Lys2296Met)
c.6704A>T (p.Lys2235Met)
c.6425A>T (p.Lys2142Met)
c.5468A>T (p.Lys1823Met)
c.5459A>T (p.Lys1820Met)
5g.37052389G>ACA443911346NIPBLc.7086G>A (p.Lys2362=)
n.968G>A
c.1-12189G>A (n.1-12189G>A)
c.6342G>A (p.Lys2114=)
c.6888G>A (p.Lys2296=)
c.6705G>A (p.Lys2235=)
c.6426G>A (p.Lys2142=)
c.5469G>A (p.Lys1823=)
c.5460G>A (p.Lys1820=)
 gnomAD v4
5g.37052389G>CCA359511115NIPBLc.7086G>C (p.Lys2362Asn)
n.968G>C
c.1-12189G>C (n.1-12189G>C)
c.6342G>C (p.Lys2114Asn)
c.6888G>C (p.Lys2296Asn)
c.6705G>C (p.Lys2235Asn)
c.6426G>C (p.Lys2142Asn)
c.5469G>C (p.Lys1823Asn)
c.5460G>C (p.Lys1820Asn)
5g.37052389G>TCA359511116NIPBLc.7086G>T (p.Lys2362Asn)
n.968G>T
c.1-12189G>T (n.1-12189G>T)
c.6342G>T (p.Lys2114Asn)
c.6888G>T (p.Lys2296Asn)
c.6705G>T (p.Lys2235Asn)
c.6426G>T (p.Lys2142Asn)
c.5469G>T (p.Lys1823Asn)
c.5460G>T (p.Lys1820Asn)
5g.37052390A>CCA359511119NIPBLc.7087A>C (p.Met2363Leu)
n.969A>C
c.1-12188A>C (n.1-12188A>C)
c.6343A>C (p.Met2115Leu)
c.6889A>C (p.Met2297Leu)
c.6706A>C (p.Met2236Leu)
c.6427A>C (p.Met2143Leu)
c.5470A>C (p.Met1824Leu)
c.5461A>C (p.Met1821Leu)
5g.37052390A>GCA359511118NIPBLc.7087A>G (p.Met2363Val)
n.969A>G
c.1-12188A>G (n.1-12188A>G)
c.6343A>G (p.Met2115Val)
c.6889A>G (p.Met2297Val)
c.6706A>G (p.Met2236Val)
c.6427A>G (p.Met2143Val)
c.5470A>G (p.Met1824Val)
c.5461A>G (p.Met1821Val)
5g.37052390A>TCA359511117NIPBLc.7087A>T (p.Met2363Leu)
n.969A>T
c.1-12188A>T (n.1-12188A>T)
c.6343A>T (p.Met2115Leu)
c.6889A>T (p.Met2297Leu)
c.6706A>T (p.Met2236Leu)
c.6427A>T (p.Met2143Leu)
c.5470A>T (p.Met1824Leu)
c.5461A>T (p.Met1821Leu)
5g.37052390_37052391insAACTATCACA2508479204NIPBLc.7087_7088insAACTATCA (p.Met2363LysfsTer16)
n.969_970insAACTATCA
c.1-12188_1-12187insAACTATCA (n.1-12188_1-12187insAACTATCA)
c.6343_6344insAACTATCA (p.Met2115LysfsTer16)
c.6889_6890insAACTATCA (p.Met2297LysfsTer16)
c.6706_6707insAACTATCA (p.Met2236LysfsTer16)
c.6427_6428insAACTATCA (p.Met2143LysfsTer16)
c.5470_5471insAACTATCA (p.Met1824LysfsTer16)
c.5461_5462insAACTATCA (p.Met1821LysfsTer16)
5g.37052391T>ACA359511121NIPBLc.7088T>A (p.Met2363Lys)
n.970T>A
c.1-12187T>A (n.1-12187T>A)
c.6344T>A (p.Met2115Lys)
c.6890T>A (p.Met2297Lys)
c.6707T>A (p.Met2236Lys)
c.6428T>A (p.Met2143Lys)
c.5471T>A (p.Met1824Lys)
c.5462T>A (p.Met1821Lys)
5g.37052391T>CCA359511123NIPBLc.7088T>C (p.Met2363Thr)
n.970T>C
c.1-12187T>C (n.1-12187T>C)
c.6344T>C (p.Met2115Thr)
c.6890T>C (p.Met2297Thr)
c.6707T>C (p.Met2236Thr)
c.6428T>C (p.Met2143Thr)
c.5471T>C (p.Met1824Thr)
c.5462T>C (p.Met1821Thr)
5g.37052391T>GCA359511125NIPBLc.7088T>G (p.Met2363Arg)
n.970T>G
c.1-12187T>G (n.1-12187T>G)
c.6344T>G (p.Met2115Arg)
c.6890T>G (p.Met2297Arg)
c.6707T>G (p.Met2236Arg)
c.6428T>G (p.Met2143Arg)
c.5471T>G (p.Met1824Arg)
c.5462T>G (p.Met1821Arg)
5g.37052392G>ACA359511128NIPBLc.7089G>A (p.Met2363Ile)
n.971G>A
c.1-12186G>A (n.1-12186G>A)
c.6345G>A (p.Met2115Ile)
c.6891G>A (p.Met2297Ile)
c.6708G>A (p.Met2236Ile)
c.6429G>A (p.Met2143Ile)
c.5472G>A (p.Met1824Ile)
c.5463G>A (p.Met1821Ile)
5g.37052392G>CCA359511129NIPBLc.7089G>C (p.Met2363Ile)
n.971G>C
c.1-12186G>C (n.1-12186G>C)
c.6345G>C (p.Met2115Ile)
c.6891G>C (p.Met2297Ile)
c.6708G>C (p.Met2236Ile)
c.6429G>C (p.Met2143Ile)
c.5472G>C (p.Met1824Ile)
c.5463G>C (p.Met1821Ile)
5g.37052392G>TCA359511131NIPBLc.7089G>T (p.Met2363Ile)
n.971G>T
c.1-12186G>T (n.1-12186G>T)
c.6345G>T (p.Met2115Ile)
c.6891G>T (p.Met2297Ile)
c.6708G>T (p.Met2236Ile)
c.6429G>T (p.Met2143Ile)
c.5472G>T (p.Met1824Ile)
c.5463G>T (p.Met1821Ile)
5g.37052393T>ACA359511132NIPBLc.7090T>A (p.Ser2364Thr)
n.972T>A
c.1-12185T>A (n.1-12185T>A)
c.6346T>A (p.Ser2116Thr)
c.6892T>A (p.Ser2298Thr)
c.6709T>A (p.Ser2237Thr)
c.6430T>A (p.Ser2144Thr)
c.5473T>A (p.Ser1825Thr)
c.5464T>A (p.Ser1822Thr)
5g.37052393T>CCA359511134NIPBLc.7090T>C (p.Ser2364Pro)
n.972T>C
c.1-12185T>C (n.1-12185T>C)
c.6346T>C (p.Ser2116Pro)
c.6892T>C (p.Ser2298Pro)
c.6709T>C (p.Ser2237Pro)
c.6430T>C (p.Ser2144Pro)
c.5473T>C (p.Ser1825Pro)
c.5464T>C (p.Ser1822Pro)
5g.37052393T>GCA359511135NIPBLc.7090T>G (p.Ser2364Ala)
n.972T>G
c.1-12185T>G (n.1-12185T>G)
c.6346T>G (p.Ser2116Ala)
c.6892T>G (p.Ser2298Ala)
c.6709T>G (p.Ser2237Ala)
c.6430T>G (p.Ser2144Ala)
c.5473T>G (p.Ser1825Ala)
c.5464T>G (p.Ser1822Ala)
5g.37052394C>ACA359511136NIPBLc.7091C>A (p.Ser2364Tyr)
n.973C>A
c.1-12184C>A (n.1-12184C>A)
c.6347C>A (p.Ser2116Tyr)
c.6893C>A (p.Ser2298Tyr)
c.6710C>A (p.Ser2237Tyr)
c.6431C>A (p.Ser2144Tyr)
c.5474C>A (p.Ser1825Tyr)
c.5465C>A (p.Ser1822Tyr)
5g.37052394C>GCA359511137NIPBLc.7091C>G (p.Ser2364Cys)
n.973C>G
c.1-12184C>G (n.1-12184C>G)
c.6347C>G (p.Ser2116Cys)
c.6893C>G (p.Ser2298Cys)
c.6710C>G (p.Ser2237Cys)
c.6431C>G (p.Ser2144Cys)
c.5474C>G (p.Ser1825Cys)
c.5465C>G (p.Ser1822Cys)
5g.37052394C>TCA359511138NIPBLc.7091C>T (p.Ser2364Phe)
n.973C>T
c.1-12184C>T (n.1-12184C>T)
c.6347C>T (p.Ser2116Phe)
c.6893C>T (p.Ser2298Phe)
c.6710C>T (p.Ser2237Phe)
c.6431C>T (p.Ser2144Phe)
c.5474C>T (p.Ser1825Phe)
c.5465C>T (p.Ser1822Phe)
5g.37052394_37052401delCA2501076810NIPBLc.7091_7098del (p.Ser2364CysfsTer23)
n.973_980del
c.1-12184_1-12177del (n.1-12184_1-12177del)
c.6347_6354del (p.Ser2116CysfsTer23)
c.6893_6900del (p.Ser2298CysfsTer23)
c.6710_6717del (p.Ser2237CysfsTer23)
c.6431_6438del (p.Ser2144CysfsTer23)
c.5474_5481del (p.Ser1825CysfsTer23)
c.5465_5472del (p.Ser1822CysfsTer23)
5g.37052395T>ACA443911374NIPBLc.7092T>A (p.Ser2364=)
n.974T>A
c.1-12183T>A (n.1-12183T>A)
c.6348T>A (p.Ser2116=)
c.6894T>A (p.Ser2298=)
c.6711T>A (p.Ser2237=)
c.6432T>A (p.Ser2144=)
c.5475T>A (p.Ser1825=)
c.5466T>A (p.Ser1822=)
5g.37052395T>CCA443911375NIPBLc.7092T>C (p.Ser2364=)
n.974T>C
c.1-12183T>C (n.1-12183T>C)
c.6348T>C (p.Ser2116=)
c.6894T>C (p.Ser2298=)
c.6711T>C (p.Ser2237=)
c.6432T>C (p.Ser2144=)
c.5475T>C (p.Ser1825=)
c.5466T>C (p.Ser1822=)
5g.37052395T>GCA443911378NIPBLc.7092T>G (p.Ser2364=)
n.974T>G
c.1-12183T>G (n.1-12183T>G)
c.6348T>G (p.Ser2116=)
c.6894T>G (p.Ser2298=)
c.6711T>G (p.Ser2237=)
c.6432T>G (p.Ser2144=)
c.5475T>G (p.Ser1825=)
c.5466T>G (p.Ser1822=)
5g.37052396T>ACA359511143NIPBLc.7093T>A (p.Tyr2365Asn)
n.975T>A
c.1-12182T>A (n.1-12182T>A)
c.6349T>A (p.Tyr2117Asn)
c.6895T>A (p.Tyr2299Asn)
c.6712T>A (p.Tyr2238Asn)
c.6433T>A (p.Tyr2145Asn)
c.5476T>A (p.Tyr1826Asn)
c.5467T>A (p.Tyr1823Asn)
5g.37052396T>CCA359511141NIPBLc.7093T>C (p.Tyr2365His)
n.975T>C
c.1-12182T>C (n.1-12182T>C)
c.6349T>C (p.Tyr2117His)
c.6895T>C (p.Tyr2299His)
c.6712T>C (p.Tyr2238His)
c.6433T>C (p.Tyr2145His)
c.5476T>C (p.Tyr1826His)
c.5467T>C (p.Tyr1823His)
5g.37052396T>GCA359511139NIPBLc.7093T>G (p.Tyr2365Asp)
n.975T>G
c.1-12182T>G (n.1-12182T>G)
c.6349T>G (p.Tyr2117Asp)
c.6895T>G (p.Tyr2299Asp)
c.6712T>G (p.Tyr2238Asp)
c.6433T>G (p.Tyr2145Asp)
c.5476T>G (p.Tyr1826Asp)
c.5467T>G (p.Tyr1823Asp)
5g.37052396T=CA1539572105NIPBLc.7093T= (p.Tyr2365=)
n.975T=
c.1-12182T= (n.1-12182T=)
c.6349T= (p.Tyr2117=)
c.6895T= (p.Tyr2299=)
c.6712T= (p.Tyr2238=)
c.6433T= (p.Tyr2145=)
c.5476T= (p.Tyr1826=)
c.5467T= (p.Tyr1823=)
5g.37052397A>CCA359511144NIPBLc.7094A>C (p.Tyr2365Ser)
n.976A>C
c.1-12181A>C (n.1-12181A>C)
c.6350A>C (p.Tyr2117Ser)
c.6896A>C (p.Tyr2299Ser)
c.6713A>C (p.Tyr2238Ser)
c.6434A>C (p.Tyr2145Ser)
c.5477A>C (p.Tyr1826Ser)
c.5468A>C (p.Tyr1823Ser)
5g.37052397A>GCA359511146NIPBLc.7094A>G (p.Tyr2365Cys)
n.976A>G
c.1-12181A>G (n.1-12181A>G)
c.6350A>G (p.Tyr2117Cys)
c.6896A>G (p.Tyr2299Cys)
c.6713A>G (p.Tyr2238Cys)
c.6434A>G (p.Tyr2145Cys)
c.5477A>G (p.Tyr1826Cys)
c.5468A>G (p.Tyr1823Cys)
5g.37052397A>TCA359511149NIPBLc.7094A>T (p.Tyr2365Phe)
n.976A>T
c.1-12181A>T (n.1-12181A>T)
c.6350A>T (p.Tyr2117Phe)
c.6896A>T (p.Tyr2299Phe)
c.6713A>T (p.Tyr2238Phe)
c.6434A>T (p.Tyr2145Phe)
c.5477A>T (p.Tyr1826Phe)
c.5468A>T (p.Tyr1823Phe)
5g.37052397_37052420dupCA810284540NIPBLc.7094_7117dup (p.Asn2372_Thr2373insAsnGlnValGlnGlnAlaIleAsn)
n.976_999dup
c.1-12181_1-12158dup (n.1-12181_1-12158dup)
c.6350_6373dup (p.Asn2124_Thr2125insAsnGlnValGlnGlnAlaIleAsn)
c.6896_6919dup (p.Asn2306_Thr2307insAsnGlnValGlnGlnAlaIleAsn)
c.6713_6736dup (p.Asn2245_Thr2246insAsnGlnValGlnGlnAlaIleAsn)
c.6434_6457dup (p.Asn2152_Thr2153insAsnGlnValGlnGlnAlaIleAsn)
c.5477_5500dup (p.Asn1833_Thr1834insAsnGlnValGlnGlnAlaIleAsn)
c.5468_5491dup (p.Asn1830_Thr1831insAsnGlnValGlnGlnAlaIleAsn)
 dbSNP gnomAD v3 gnomAD v4
5g.37052398C>ACA359511152NIPBLc.7095C>A (p.Tyr2365Ter)
n.977C>A
c.1-12180C>A (n.1-12180C>A)
c.6351C>A (p.Tyr2117Ter)
c.6897C>A (p.Tyr2299Ter)
c.6714C>A (p.Tyr2238Ter)
c.6435C>A (p.Tyr2145Ter)
c.5478C>A (p.Tyr1826Ter)
c.5469C>A (p.Tyr1823Ter)
5g.37052398C>GCA359511154NIPBLc.7095C>G (p.Tyr2365Ter)
n.977C>G
c.1-12180C>G (n.1-12180C>G)
c.6351C>G (p.Tyr2117Ter)
c.6897C>G (p.Tyr2299Ter)
c.6714C>G (p.Tyr2238Ter)
c.6435C>G (p.Tyr2145Ter)
c.5478C>G (p.Tyr1826Ter)
c.5469C>G (p.Tyr1823Ter)
5g.37052398C>TCA443911393NIPBLc.7095C>T (p.Tyr2365=)
n.977C>T
c.1-12180C>T (n.1-12180C>T)
c.6351C>T (p.Tyr2117=)
c.6897C>T (p.Tyr2299=)
c.6714C>T (p.Tyr2238=)
c.6435C>T (p.Tyr2145=)
c.5478C>T (p.Tyr1826=)
c.5469C>T (p.Tyr1823=)
5g.37052399C>ACA359511158NIPBLc.7096C>A (p.Gln2366Lys)
n.978C>A
c.1-12179C>A (n.1-12179C>A)
c.6352C>A (p.Gln2118Lys)
c.6898C>A (p.Gln2300Lys)
c.6715C>A (p.Gln2239Lys)
c.6436C>A (p.Gln2146Lys)
c.5479C>A (p.Gln1827Lys)
c.5470C>A (p.Gln1824Lys)
5g.37052399C>GCA359511160NIPBLc.7096C>G (p.Gln2366Glu)
n.978C>G
c.1-12179C>G (n.1-12179C>G)
c.6352C>G (p.Gln2118Glu)
c.6898C>G (p.Gln2300Glu)
c.6715C>G (p.Gln2239Glu)
c.6436C>G (p.Gln2146Glu)
c.5479C>G (p.Gln1827Glu)
c.5470C>G (p.Gln1824Glu)
5g.37052399C>TCA359511162NIPBLc.7096C>T (p.Gln2366Ter)
n.978C>T
c.1-12179C>T (n.1-12179C>T)
c.6352C>T (p.Gln2118Ter)
c.6898C>T (p.Gln2300Ter)
c.6715C>T (p.Gln2239Ter)
c.6436C>T (p.Gln2146Ter)
c.5479C>T (p.Gln1827Ter)
c.5470C>T (p.Gln1824Ter)
5g.37052400A=CA1539572117NIPBLc.7097A= (p.Gln2366=)
n.979A=
c.1-12178A= (n.1-12178A=)
c.6353A= (p.Gln2118=)
c.6899A= (p.Gln2300=)
c.6716A= (p.Gln2239=)
c.6437A= (p.Gln2146=)
c.5480A= (p.Gln1827=)
c.5471A= (p.Gln1824=)
5g.37052400A>CCA359511163NIPBLc.7097A>C (p.Gln2366Pro)
n.979A>C
c.1-12178A>C (n.1-12178A>C)
c.6353A>C (p.Gln2118Pro)
c.6899A>C (p.Gln2300Pro)
c.6716A>C (p.Gln2239Pro)
c.6437A>C (p.Gln2146Pro)
c.5480A>C (p.Gln1827Pro)
c.5471A>C (p.Gln1824Pro)
 ClinVar
5g.37052400A>GCA3237139NIPBLc.7097A>G (p.Gln2366Arg)
n.979A>G
c.1-12178A>G (n.1-12178A>G)
c.6353A>G (p.Gln2118Arg)
c.6899A>G (p.Gln2300Arg)
c.6716A>G (p.Gln2239Arg)
c.6437A>G (p.Gln2146Arg)
c.5480A>G (p.Gln1827Arg)
c.5471A>G (p.Gln1824Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052400A>TCA359511165NIPBLc.7097A>T (p.Gln2366Leu)
n.979A>T
c.1-12178A>T (n.1-12178A>T)
c.6353A>T (p.Gln2118Leu)
c.6899A>T (p.Gln2300Leu)
c.6716A>T (p.Gln2239Leu)
c.6437A>T (p.Gln2146Leu)
c.5480A>T (p.Gln1827Leu)
c.5471A>T (p.Gln1824Leu)
 dbSNP
5g.37052401G>ACA117051473NIPBLc.7098G>A (p.Gln2366=)
n.980G>A
c.1-12177G>A (n.1-12177G>A)
c.6354G>A (p.Gln2118=)
c.6900G>A (p.Gln2300=)
c.6717G>A (p.Gln2239=)
c.6438G>A (p.Gln2146=)
c.5481G>A (p.Gln1827=)
c.5472G>A (p.Gln1824=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37052401G>CCA359511167NIPBLc.7098G>C (p.Gln2366His)
n.980G>C
c.1-12177G>C (n.1-12177G>C)
c.6354G>C (p.Gln2118His)
c.6900G>C (p.Gln2300His)
c.6717G>C (p.Gln2239His)
c.6438G>C (p.Gln2146His)
c.5481G>C (p.Gln1827His)
c.5472G>C (p.Gln1824His)
5g.37052401G=CA1539572124NIPBLc.7098G= (p.Gln2366=)
n.980G=
c.1-12177G= (n.1-12177G=)
c.6354G= (p.Gln2118=)
c.6900G= (p.Gln2300=)
c.6717G= (p.Gln2239=)
c.6438G= (p.Gln2146=)
c.5481G= (p.Gln1827=)
c.5472G= (p.Gln1824=)
5g.37052401G>TCA359511169NIPBLc.7098G>T (p.Gln2366His)
n.980G>T
c.1-12177G>T (n.1-12177G>T)
c.6354G>T (p.Gln2118His)
c.6900G>T (p.Gln2300His)
c.6717G>T (p.Gln2239His)
c.6438G>T (p.Gln2146His)
c.5481G>T (p.Gln1827His)
c.5472G>T (p.Gln1824His)
 COSMIC
5g.37052402G>ACA359511179NIPBLc.7099G>A (p.Val2367Ile)
n.981G>A
c.1-12176G>A (n.1-12176G>A)
c.6355G>A (p.Val2119Ile)
c.6901G>A (p.Val2301Ile)
c.6718G>A (p.Val2240Ile)
c.6439G>A (p.Val2147Ile)
c.5482G>A (p.Val1828Ile)
c.5473G>A (p.Val1825Ile)
5g.37052402G>CCA359511177NIPBLc.7099G>C (p.Val2367Leu)
n.981G>C
c.1-12176G>C (n.1-12176G>C)
c.6355G>C (p.Val2119Leu)
c.6901G>C (p.Val2301Leu)
c.6718G>C (p.Val2240Leu)
c.6439G>C (p.Val2147Leu)
c.5482G>C (p.Val1828Leu)
c.5473G>C (p.Val1825Leu)
5g.37052402G>TCA359511173NIPBLc.7099G>T (p.Val2367Leu)
n.981G>T
c.1-12176G>T (n.1-12176G>T)
c.6355G>T (p.Val2119Leu)
c.6901G>T (p.Val2301Leu)
c.6718G>T (p.Val2240Leu)
c.6439G>T (p.Val2147Leu)
c.5482G>T (p.Val1828Leu)
c.5473G>T (p.Val1825Leu)
5g.37052403T>ACA359511181NIPBLc.7100T>A (p.Val2367Glu)
n.982T>A
c.1-12175T>A (n.1-12175T>A)
c.6356T>A (p.Val2119Glu)
c.6902T>A (p.Val2301Glu)
c.6719T>A (p.Val2240Glu)
c.6440T>A (p.Val2147Glu)
c.5483T>A (p.Val1828Glu)
c.5474T>A (p.Val1825Glu)
5g.37052403T>CCA359511189NIPBLc.7100T>C (p.Val2367Ala)
n.982T>C
c.1-12175T>C (n.1-12175T>C)
c.6356T>C (p.Val2119Ala)
c.6902T>C (p.Val2301Ala)
c.6719T>C (p.Val2240Ala)
c.6440T>C (p.Val2147Ala)
c.5483T>C (p.Val1828Ala)
c.5474T>C (p.Val1825Ala)
 COSMIC COSMIC
5g.37052403T>GCA359511191NIPBLc.7100T>G (p.Val2367Gly)
n.982T>G
c.1-12175T>G (n.1-12175T>G)
c.6356T>G (p.Val2119Gly)
c.6902T>G (p.Val2301Gly)
c.6719T>G (p.Val2240Gly)
c.6440T>G (p.Val2147Gly)
c.5483T>G (p.Val1828Gly)
c.5474T>G (p.Val1825Gly)
 dbSNP
5g.37052403T=CA1539572135NIPBLc.7100T= (p.Val2367=)
n.982T=
c.1-12175T= (n.1-12175T=)
c.6356T= (p.Val2119=)
c.6902T= (p.Val2301=)
c.6719T= (p.Val2240=)
c.6440T= (p.Val2147=)
c.5483T= (p.Val1828=)
c.5474T= (p.Val1825=)
5g.37052404A>CCA443911420NIPBLc.7101A>C (p.Val2367=)
n.983A>C
c.1-12174A>C (n.1-12174A>C)
c.6357A>C (p.Val2119=)
c.6903A>C (p.Val2301=)
c.6720A>C (p.Val2240=)
c.6441A>C (p.Val2147=)
c.5484A>C (p.Val1828=)
c.5475A>C (p.Val1825=)
5g.37052404A>GCA443911425NIPBLc.7101A>G (p.Val2367=)
n.983A>G
c.1-12174A>G (n.1-12174A>G)
c.6357A>G (p.Val2119=)
c.6903A>G (p.Val2301=)
c.6720A>G (p.Val2240=)
c.6441A>G (p.Val2147=)
c.5484A>G (p.Val1828=)
c.5475A>G (p.Val1825=)
5g.37052404A>TCA443911422NIPBLc.7101A>T (p.Val2367=)
n.983A>T
c.1-12174A>T (n.1-12174A>T)
c.6357A>T (p.Val2119=)
c.6903A>T (p.Val2301=)
c.6720A>T (p.Val2240=)
c.6441A>T (p.Val2147=)
c.5484A>T (p.Val1828=)
c.5475A>T (p.Val1825=)
5g.37052405C>ACA359511195NIPBLc.7102C>A (p.Gln2368Lys)
n.984C>A
c.1-12173C>A (n.1-12173C>A)
c.6358C>A (p.Gln2120Lys)
c.6904C>A (p.Gln2302Lys)
c.6721C>A (p.Gln2241Lys)
c.6442C>A (p.Gln2148Lys)
c.5485C>A (p.Gln1829Lys)
c.5476C>A (p.Gln1826Lys)
5g.37052405C=CA1539572140NIPBLc.7102C= (p.Gln2368=)
n.984C=
c.1-12173C= (n.1-12173C=)
c.6358C= (p.Gln2120=)
c.6904C= (p.Gln2302=)
c.6721C= (p.Gln2241=)
c.6442C= (p.Gln2148=)
c.5485C= (p.Gln1829=)
c.5476C= (p.Gln1826=)
5g.37052405C>GCA359511197NIPBLc.7102C>G (p.Gln2368Glu)
n.984C>G
c.1-12173C>G (n.1-12173C>G)
c.6358C>G (p.Gln2120Glu)
c.6904C>G (p.Gln2302Glu)
c.6721C>G (p.Gln2241Glu)
c.6442C>G (p.Gln2148Glu)
c.5485C>G (p.Gln1829Glu)
c.5476C>G (p.Gln1826Glu)
5g.37052405C>TCA272285NIPBLc.7102C>T (p.Gln2368Ter)
n.984C>T
c.1-12173C>T (n.1-12173C>T)
c.6358C>T (p.Gln2120Ter)
c.6904C>T (p.Gln2302Ter)
c.6721C>T (p.Gln2241Ter)
c.6442C>T (p.Gln2148Ter)
c.5485C>T (p.Gln1829Ter)
c.5476C>T (p.Gln1826Ter)
 ClinVar dbSNP
5g.37052406A>CCA359511201NIPBLc.7103A>C (p.Gln2368Pro)
n.985A>C
c.1-12172A>C (n.1-12172A>C)
c.6359A>C (p.Gln2120Pro)
c.6905A>C (p.Gln2302Pro)
c.6722A>C (p.Gln2241Pro)
c.6443A>C (p.Gln2148Pro)
c.5486A>C (p.Gln1829Pro)
c.5477A>C (p.Gln1826Pro)
5g.37052406A>GCA359511204NIPBLc.7103A>G (p.Gln2368Arg)
n.985A>G
c.1-12172A>G (n.1-12172A>G)
c.6359A>G (p.Gln2120Arg)
c.6905A>G (p.Gln2302Arg)
c.6722A>G (p.Gln2241Arg)
c.6443A>G (p.Gln2148Arg)
c.5486A>G (p.Gln1829Arg)
c.5477A>G (p.Gln1826Arg)
5g.37052406A>TCA359511207NIPBLc.7103A>T (p.Gln2368Leu)
n.985A>T
c.1-12172A>T (n.1-12172A>T)
c.6359A>T (p.Gln2120Leu)
c.6905A>T (p.Gln2302Leu)
c.6722A>T (p.Gln2241Leu)
c.6443A>T (p.Gln2148Leu)
c.5486A>T (p.Gln1829Leu)
c.5477A>T (p.Gln1826Leu)
5g.37052407A=CA1539572148NIPBLc.7104A= (p.Gln2368=)
n.986A=
c.1-12171A= (n.1-12171A=)
c.6360A= (p.Gln2120=)
c.6906A= (p.Gln2302=)
c.6723A= (p.Gln2241=)
c.6444A= (p.Gln2148=)
c.5487A= (p.Gln1829=)
c.5478A= (p.Gln1826=)
5g.37052407A>CCA359511210NIPBLc.7104A>C (p.Gln2368His)
n.986A>C
c.1-12171A>C (n.1-12171A>C)
c.6360A>C (p.Gln2120His)
c.6906A>C (p.Gln2302His)
c.6723A>C (p.Gln2241His)
c.6444A>C (p.Gln2148His)
c.5487A>C (p.Gln1829His)
c.5478A>C (p.Gln1826His)
5g.37052407A>GCA443911439NIPBLc.7104A>G (p.Gln2368=)
n.986A>G
c.1-12171A>G (n.1-12171A>G)
c.6360A>G (p.Gln2120=)
c.6906A>G (p.Gln2302=)
c.6723A>G (p.Gln2241=)
c.6444A>G (p.Gln2148=)
c.5487A>G (p.Gln1829=)
c.5478A>G (p.Gln1826=)
 dbSNP gnomAD v4
5g.37052407A>TCA359511212NIPBLc.7104A>T (p.Gln2368His)
n.986A>T
c.1-12171A>T (n.1-12171A>T)
c.6360A>T (p.Gln2120His)
c.6906A>T (p.Gln2302His)
c.6723A>T (p.Gln2241His)
c.6444A>T (p.Gln2148His)
c.5487A>T (p.Gln1829His)
c.5478A>T (p.Gln1826His)
5g.37052408C>ACA359511213NIPBLc.7105C>A (p.Gln2369Lys)
n.987C>A
c.1-12170C>A (n.1-12170C>A)
c.6361C>A (p.Gln2121Lys)
c.6907C>A (p.Gln2303Lys)
c.6724C>A (p.Gln2242Lys)
c.6445C>A (p.Gln2149Lys)
c.5488C>A (p.Gln1830Lys)
c.5479C>A (p.Gln1827Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.37052408C=CA1539572152NIPBLc.7105C= (p.Gln2369=)
n.987C=
c.1-12170C= (n.1-12170C=)
c.6361C= (p.Gln2121=)
c.6907C= (p.Gln2303=)
c.6724C= (p.Gln2242=)
c.6445C= (p.Gln2149=)
c.5488C= (p.Gln1830=)
c.5479C= (p.Gln1827=)
5g.37052408C>GCA359511215NIPBLc.7105C>G (p.Gln2369Glu)
n.987C>G
c.1-12170C>G (n.1-12170C>G)
c.6361C>G (p.Gln2121Glu)
c.6907C>G (p.Gln2303Glu)
c.6724C>G (p.Gln2242Glu)
c.6445C>G (p.Gln2149Glu)
c.5488C>G (p.Gln1830Glu)
c.5479C>G (p.Gln1827Glu)
5g.37052408C>TCA359511216NIPBLc.7105C>T (p.Gln2369Ter)
n.987C>T
c.1-12170C>T (n.1-12170C>T)
c.6361C>T (p.Gln2121Ter)
c.6907C>T (p.Gln2303Ter)
c.6724C>T (p.Gln2242Ter)
c.6445C>T (p.Gln2149Ter)
c.5488C>T (p.Gln1830Ter)
c.5479C>T (p.Gln1827Ter)
5g.37052408_37052409delinsCACA1539572154NIPBLc.7105_7106delinsCA (p.Gln2369=)
n.987_988delinsCA
c.1-12170_1-12169delinsCA (n.1-12170_1-12169delinsCA)
c.6361_6362delinsCA (p.Gln2121=)
c.6907_6908delinsCA (p.Gln2303=)
c.6724_6725delinsCA (p.Gln2242=)
c.6445_6446delinsCA (p.Gln2149=)
c.5488_5489delinsCA (p.Gln1830=)
c.5479_5480delinsCA (p.Gln1827=)
5g.37052409delCA272288NIPBLc.7106del (p.Gln2369ArgfsTer7)
n.988del
c.1-12169del (n.1-12169del)
c.6362del (p.Gln2121ArgfsTer7)
c.6908del (p.Gln2303ArgfsTer7)
c.6725del (p.Gln2242ArgfsTer7)
c.6446del (p.Gln2149ArgfsTer7)
c.5489del (p.Gln1830ArgfsTer7)
c.5480del (p.Gln1827ArgfsTer7)
 ClinVar dbSNP
5g.37052409A>CCA359511224NIPBLc.7106A>C (p.Gln2369Pro)
n.988A>C
c.1-12169A>C (n.1-12169A>C)
c.6362A>C (p.Gln2121Pro)
c.6908A>C (p.Gln2303Pro)
c.6725A>C (p.Gln2242Pro)
c.6446A>C (p.Gln2149Pro)
c.5489A>C (p.Gln1830Pro)
c.5480A>C (p.Gln1827Pro)
5g.37052409A>GCA359511228NIPBLc.7106A>G (p.Gln2369Arg)
n.988A>G
c.1-12169A>G (n.1-12169A>G)
c.6362A>G (p.Gln2121Arg)
c.6908A>G (p.Gln2303Arg)
c.6725A>G (p.Gln2242Arg)
c.6446A>G (p.Gln2149Arg)
c.5489A>G (p.Gln1830Arg)
c.5480A>G (p.Gln1827Arg)
5g.37052409A>TCA359511230NIPBLc.7106A>T (p.Gln2369Leu)
n.988A>T
c.1-12169A>T (n.1-12169A>T)
c.6362A>T (p.Gln2121Leu)
c.6908A>T (p.Gln2303Leu)
c.6725A>T (p.Gln2242Leu)
c.6446A>T (p.Gln2149Leu)
c.5489A>T (p.Gln1830Leu)
c.5480A>T (p.Gln1827Leu)
5g.37052410G>ACA443911457NIPBLc.7107G>A (p.Gln2369=)
n.989G>A
c.1-12168G>A (n.1-12168G>A)
c.6363G>A (p.Gln2121=)
c.6909G>A (p.Gln2303=)
c.6726G>A (p.Gln2242=)
c.6447G>A (p.Gln2149=)
c.5490G>A (p.Gln1830=)
c.5481G>A (p.Gln1827=)
5g.37052410G>CCA359511231NIPBLc.7107G>C (p.Gln2369His)
n.989G>C
c.1-12168G>C (n.1-12168G>C)
c.6363G>C (p.Gln2121His)
c.6909G>C (p.Gln2303His)
c.6726G>C (p.Gln2242His)
c.6447G>C (p.Gln2149His)
c.5490G>C (p.Gln1830His)
c.5481G>C (p.Gln1827His)
5g.37052410G>TCA359511232NIPBLc.7107G>T (p.Gln2369His)
n.989G>T
c.1-12168G>T (n.1-12168G>T)
c.6363G>T (p.Gln2121His)
c.6909G>T (p.Gln2303His)
c.6726G>T (p.Gln2242His)
c.6447G>T (p.Gln2149His)
c.5490G>T (p.Gln1830His)
c.5481G>T (p.Gln1827His)
5g.37052411G>ACA359511234NIPBLc.7108G>A (p.Ala2370Thr)
n.990G>A
c.1-12167G>A (n.1-12167G>A)
c.6364G>A (p.Ala2122Thr)
c.6910G>A (p.Ala2304Thr)
c.6727G>A (p.Ala2243Thr)
c.6448G>A (p.Ala2150Thr)
c.5491G>A (p.Ala1831Thr)
c.5482G>A (p.Ala1828Thr)
5g.37052411G>CCA359511237NIPBLc.7108G>C (p.Ala2370Pro)
n.990G>C
c.1-12167G>C (n.1-12167G>C)
c.6364G>C (p.Ala2122Pro)
c.6910G>C (p.Ala2304Pro)
c.6727G>C (p.Ala2243Pro)
c.6448G>C (p.Ala2150Pro)
c.5491G>C (p.Ala1831Pro)
c.5482G>C (p.Ala1828Pro)
5g.37052411G>TCA359511239NIPBLc.7108G>T (p.Ala2370Ser)
n.990G>T
c.1-12167G>T (n.1-12167G>T)
c.6364G>T (p.Ala2122Ser)
c.6910G>T (p.Ala2304Ser)
c.6727G>T (p.Ala2243Ser)
c.6448G>T (p.Ala2150Ser)
c.5491G>T (p.Ala1831Ser)
c.5482G>T (p.Ala1828Ser)
 gnomAD v4
5g.37052412C>ACA359511240NIPBLc.7109C>A (p.Ala2370Glu)
n.991C>A
c.1-12166C>A (n.1-12166C>A)
c.6365C>A (p.Ala2122Glu)
c.6911C>A (p.Ala2304Glu)
c.6728C>A (p.Ala2243Glu)
c.6449C>A (p.Ala2150Glu)
c.5492C>A (p.Ala1831Glu)
c.5483C>A (p.Ala1828Glu)
5g.37052412C>GCA359511242NIPBLc.7109C>G (p.Ala2370Gly)
n.991C>G
c.1-12166C>G (n.1-12166C>G)
c.6365C>G (p.Ala2122Gly)
c.6911C>G (p.Ala2304Gly)
c.6728C>G (p.Ala2243Gly)
c.6449C>G (p.Ala2150Gly)
c.5492C>G (p.Ala1831Gly)
c.5483C>G (p.Ala1828Gly)
5g.37052412C>TCA359511245NIPBLc.7109C>T (p.Ala2370Val)
n.991C>T
c.1-12166C>T (n.1-12166C>T)
c.6365C>T (p.Ala2122Val)
c.6911C>T (p.Ala2304Val)
c.6728C>T (p.Ala2243Val)
c.6449C>T (p.Ala2150Val)
c.5492C>T (p.Ala1831Val)
c.5483C>T (p.Ala1828Val)
5g.37052413A>CCA443911476NIPBLc.7110A>C (p.Ala2370=)
n.992A>C
c.1-12165A>C (n.1-12165A>C)
c.6366A>C (p.Ala2122=)
c.6912A>C (p.Ala2304=)
c.6729A>C (p.Ala2243=)
c.6450A>C (p.Ala2150=)
c.5493A>C (p.Ala1831=)
c.5484A>C (p.Ala1828=)
5g.37052413A>GCA443911478NIPBLc.7110A>G (p.Ala2370=)
n.992A>G
c.1-12165A>G (n.1-12165A>G)
c.6366A>G (p.Ala2122=)
c.6912A>G (p.Ala2304=)
c.6729A>G (p.Ala2243=)
c.6450A>G (p.Ala2150=)
c.5493A>G (p.Ala1831=)
c.5484A>G (p.Ala1828=)
 gnomAD v4
5g.37052413A>TCA443911474NIPBLc.7110A>T (p.Ala2370=)
n.992A>T
c.1-12165A>T (n.1-12165A>T)
c.6366A>T (p.Ala2122=)
c.6912A>T (p.Ala2304=)
c.6729A>T (p.Ala2243=)
c.6450A>T (p.Ala2150=)
c.5493A>T (p.Ala1831=)
c.5484A>T (p.Ala1828=)
5g.37052414A=CA1539572167NIPBLc.7111A= (p.Ile2371=)
n.993A=
c.1-12164A= (n.1-12164A=)
c.6367A= (p.Ile2123=)
c.6913A= (p.Ile2305=)
c.6730A= (p.Ile2244=)
c.6451A= (p.Ile2151=)
c.5494A= (p.Ile1832=)
c.5485A= (p.Ile1829=)
5g.37052414A>CCA359511248NIPBLc.7111A>C (p.Ile2371Leu)
n.993A>C
c.1-12164A>C (n.1-12164A>C)
c.6367A>C (p.Ile2123Leu)
c.6913A>C (p.Ile2305Leu)
c.6730A>C (p.Ile2244Leu)
c.6451A>C (p.Ile2151Leu)
c.5494A>C (p.Ile1832Leu)
c.5485A>C (p.Ile1829Leu)
5g.37052414A>GCA3237140NIPBLc.7111A>G (p.Ile2371Val)
n.993A>G
c.1-12164A>G (n.1-12164A>G)
c.6367A>G (p.Ile2123Val)
c.6913A>G (p.Ile2305Val)
c.6730A>G (p.Ile2244Val)
c.6451A>G (p.Ile2151Val)
c.5494A>G (p.Ile1832Val)
c.5485A>G (p.Ile1829Val)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.37052414A>TCA359511250NIPBLc.7111A>T (p.Ile2371Phe)
n.993A>T
c.1-12164A>T (n.1-12164A>T)
c.6367A>T (p.Ile2123Phe)
c.6913A>T (p.Ile2305Phe)
c.6730A>T (p.Ile2244Phe)
c.6451A>T (p.Ile2151Phe)
c.5494A>T (p.Ile1832Phe)
c.5485A>T (p.Ile1829Phe)
5g.37052415T>ACA359511254NIPBLc.7112T>A (p.Ile2371Asn)
n.994T>A
c.1-12163T>A (n.1-12163T>A)
c.6368T>A (p.Ile2123Asn)
c.6914T>A (p.Ile2305Asn)
c.6731T>A (p.Ile2244Asn)
c.6452T>A (p.Ile2151Asn)
c.5495T>A (p.Ile1832Asn)
c.5486T>A (p.Ile1829Asn)
5g.37052415T>CCA359511251NIPBLc.7112T>C (p.Ile2371Thr)
n.994T>C
c.1-12163T>C (n.1-12163T>C)
c.6368T>C (p.Ile2123Thr)
c.6914T>C (p.Ile2305Thr)
c.6731T>C (p.Ile2244Thr)
c.6452T>C (p.Ile2151Thr)
c.5495T>C (p.Ile1832Thr)
c.5486T>C (p.Ile1829Thr)
5g.37052415T>GCA359511253NIPBLc.7112T>G (p.Ile2371Ser)
n.994T>G
c.1-12163T>G (n.1-12163T>G)
c.6368T>G (p.Ile2123Ser)
c.6914T>G (p.Ile2305Ser)
c.6731T>G (p.Ile2244Ser)
c.6452T>G (p.Ile2151Ser)
c.5495T>G (p.Ile1832Ser)
c.5486T>G (p.Ile1829Ser)
5g.37052416C>ACA443911491NIPBLc.7113C>A (p.Ile2371=)
n.995C>A
c.1-12162C>A (n.1-12162C>A)
c.6369C>A (p.Ile2123=)
c.6915C>A (p.Ile2305=)
c.6732C>A (p.Ile2244=)
c.6453C>A (p.Ile2151=)
c.5496C>A (p.Ile1832=)
c.5487C>A (p.Ile1829=)
 COSMIC COSMIC
5g.37052416C=CA1539572170NIPBLc.7113C= (p.Ile2371=)
n.995C=
c.1-12162C= (n.1-12162C=)
c.6369C= (p.Ile2123=)
c.6915C= (p.Ile2305=)
c.6732C= (p.Ile2244=)
c.6453C= (p.Ile2151=)
c.5496C= (p.Ile1832=)
c.5487C= (p.Ile1829=)
5g.37052416C>GCA359511255NIPBLc.7113C>G (p.Ile2371Met)
n.995C>G
c.1-12162C>G (n.1-12162C>G)
c.6369C>G (p.Ile2123Met)
c.6915C>G (p.Ile2305Met)
c.6732C>G (p.Ile2244Met)
c.6453C>G (p.Ile2151Met)
c.5496C>G (p.Ile1832Met)
c.5487C>G (p.Ile1829Met)
5g.37052416C>TCA443911494NIPBLc.7113C>T (p.Ile2371=)
n.995C>T
c.1-12162C>T (n.1-12162C>T)
c.6369C>T (p.Ile2123=)
c.6915C>T (p.Ile2305=)
c.6732C>T (p.Ile2244=)
c.6453C>T (p.Ile2151=)
c.5496C>T (p.Ile1832=)
c.5487C>T (p.Ile1829=)
 dbSNP gnomAD v2 gnomAD v4
5g.37052417A>CCA359511258NIPBLc.7114A>C (p.Asn2372His)
n.996A>C
c.1-12161A>C (n.1-12161A>C)
c.6370A>C (p.Asn2124His)
c.6916A>C (p.Asn2306His)
c.6733A>C (p.Asn2245His)
c.6454A>C (p.Asn2152His)
c.5497A>C (p.Asn1833His)
c.5488A>C (p.Asn1830His)
5g.37052417A>GCA359511261NIPBLc.7114A>G (p.Asn2372Asp)
n.996A>G
c.1-12161A>G (n.1-12161A>G)
c.6370A>G (p.Asn2124Asp)
c.6916A>G (p.Asn2306Asp)
c.6733A>G (p.Asn2245Asp)
c.6454A>G (p.Asn2152Asp)
c.5497A>G (p.Asn1833Asp)
c.5488A>G (p.Asn1830Asp)
5g.37052417A>TCA359511262NIPBLc.7114A>T (p.Asn2372Tyr)
n.996A>T
c.1-12161A>T (n.1-12161A>T)
c.6370A>T (p.Asn2124Tyr)
c.6916A>T (p.Asn2306Tyr)
c.6733A>T (p.Asn2245Tyr)
c.6454A>T (p.Asn2152Tyr)
c.5497A>T (p.Asn1833Tyr)
c.5488A>T (p.Asn1830Tyr)
5g.37052418A>CCA359511265NIPBLc.7115A>C (p.Asn2372Thr)
n.997A>C
c.1-12160A>C (n.1-12160A>C)
c.6371A>C (p.Asn2124Thr)
c.6917A>C (p.Asn2306Thr)
c.6734A>C (p.Asn2245Thr)
c.6455A>C (p.Asn2152Thr)
c.5498A>C (p.Asn1833Thr)
c.5489A>C (p.Asn1830Thr)
5g.37052418A>GCA359511266NIPBLc.7115A>G (p.Asn2372Ser)
n.997A>G
c.1-12160A>G (n.1-12160A>G)
c.6371A>G (p.Asn2124Ser)
c.6917A>G (p.Asn2306Ser)
c.6734A>G (p.Asn2245Ser)
c.6455A>G (p.Asn2152Ser)
c.5498A>G (p.Asn1833Ser)
c.5489A>G (p.Asn1830Ser)
5g.37052418A>TCA359511268NIPBLc.7115A>T (p.Asn2372Ile)
n.997A>T
c.1-12160A>T (n.1-12160A>T)
c.6371A>T (p.Asn2124Ile)
c.6917A>T (p.Asn2306Ile)
c.6734A>T (p.Asn2245Ile)
c.6455A>T (p.Asn2152Ile)
c.5498A>T (p.Asn1833Ile)
c.5489A>T (p.Asn1830Ile)
5g.37052419C>ACA359511272NIPBLc.7116C>A (p.Asn2372Lys)
n.998C>A
c.1-12159C>A (n.1-12159C>A)
c.6372C>A (p.Asn2124Lys)
c.6918C>A (p.Asn2306Lys)
c.6735C>A (p.Asn2245Lys)
c.6456C>A (p.Asn2152Lys)
c.5499C>A (p.Asn1833Lys)
c.5490C>A (p.Asn1830Lys)
5g.37052419C>GCA359511274NIPBLc.7116C>G (p.Asn2372Lys)
n.998C>G
c.1-12159C>G (n.1-12159C>G)
c.6372C>G (p.Asn2124Lys)
c.6918C>G (p.Asn2306Lys)
c.6735C>G (p.Asn2245Lys)
c.6456C>G (p.Asn2152Lys)
c.5499C>G (p.Asn1833Lys)
c.5490C>G (p.Asn1830Lys)
5g.37052419C>TCA443911510NIPBLc.7116C>T (p.Asn2372=)
n.998C>T
c.1-12159C>T (n.1-12159C>T)
c.6372C>T (p.Asn2124=)
c.6918C>T (p.Asn2306=)
c.6735C>T (p.Asn2245=)
c.6456C>T (p.Asn2152=)
c.5499C>T (p.Asn1833=)
c.5490C>T (p.Asn1830=)
 gnomAD v4
5g.37052420A=CA1539572173NIPBLc.7117A= (p.Thr2373=)
n.999A=
c.1-12158A= (n.1-12158A=)
c.6373A= (p.Thr2125=)
c.6919A= (p.Thr2307=)
c.6736A= (p.Thr2246=)
c.6457A= (p.Thr2153=)
c.5500A= (p.Thr1834=)
c.5491A= (p.Thr1831=)
5g.37052420A>CCA359511275NIPBLc.7117A>C (p.Thr2373Pro)
n.999A>C
c.1-12158A>C (n.1-12158A>C)
c.6373A>C (p.Thr2125Pro)
c.6919A>C (p.Thr2307Pro)
c.6736A>C (p.Thr2246Pro)
c.6457A>C (p.Thr2153Pro)
c.5500A>C (p.Thr1834Pro)
c.5491A>C (p.Thr1831Pro)
5g.37052420A>GCA3237141NIPBLc.7117A>G (p.Thr2373Ala)
n.999A>G
c.1-12158A>G (n.1-12158A>G)
c.6373A>G (p.Thr2125Ala)
c.6919A>G (p.Thr2307Ala)
c.6736A>G (p.Thr2246Ala)
c.6457A>G (p.Thr2153Ala)
c.5500A>G (p.Thr1834Ala)
c.5491A>G (p.Thr1831Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052420A>TCA359511280NIPBLc.7117A>T (p.Thr2373Ser)
n.999A>T
c.1-12158A>T (n.1-12158A>T)
c.6373A>T (p.Thr2125Ser)
c.6919A>T (p.Thr2307Ser)
c.6736A>T (p.Thr2246Ser)
c.6457A>T (p.Thr2153Ser)
c.5500A>T (p.Thr1834Ser)
c.5491A>T (p.Thr1831Ser)
5g.37052421C>ACA359511285NIPBLc.7118C>A (p.Thr2373Lys)
n.1000C>A
c.1-12157C>A (n.1-12157C>A)
c.6374C>A (p.Thr2125Lys)
c.6920C>A (p.Thr2307Lys)
c.6737C>A (p.Thr2246Lys)
c.6458C>A (p.Thr2153Lys)
c.5501C>A (p.Thr1834Lys)
c.5492C>A (p.Thr1831Lys)
5g.37052421C=CA1539572181NIPBLc.7118C= (p.Thr2373=)
n.1000C=
c.1-12157C= (n.1-12157C=)
c.6374C= (p.Thr2125=)
c.6920C= (p.Thr2307=)
c.6737C= (p.Thr2246=)
c.6458C= (p.Thr2153=)
c.5501C= (p.Thr1834=)
c.5492C= (p.Thr1831=)
5g.37052421C>GCA359511284NIPBLc.7118C>G (p.Thr2373Arg)
n.1000C>G
c.1-12157C>G (n.1-12157C>G)
c.6374C>G (p.Thr2125Arg)
c.6920C>G (p.Thr2307Arg)
c.6737C>G (p.Thr2246Arg)
c.6458C>G (p.Thr2153Arg)
c.5501C>G (p.Thr1834Arg)
c.5492C>G (p.Thr1831Arg)
5g.37052421C>TCA3237142NIPBLc.7118C>T (p.Thr2373Ile)
n.1000C>T
c.1-12157C>T (n.1-12157C>T)
c.6374C>T (p.Thr2125Ile)
c.6920C>T (p.Thr2307Ile)
c.6737C>T (p.Thr2246Ile)
c.6458C>T (p.Thr2153Ile)
c.5501C>T (p.Thr1834Ile)
c.5492C>T (p.Thr1831Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052422A=CA1539572187NIPBLc.7119A= (p.Thr2373=)
n.1001A=
c.1-12156A= (n.1-12156A=)
c.6375A= (p.Thr2125=)
c.6921A= (p.Thr2307=)
c.6738A= (p.Thr2246=)
c.6459A= (p.Thr2153=)
c.5502A= (p.Thr1834=)
c.5493A= (p.Thr1831=)
5g.37052422A>CCA443911522NIPBLc.7119A>C (p.Thr2373=)
n.1001A>C
c.1-12156A>C (n.1-12156A>C)
c.6375A>C (p.Thr2125=)
c.6921A>C (p.Thr2307=)
c.6738A>C (p.Thr2246=)
c.6459A>C (p.Thr2153=)
c.5502A>C (p.Thr1834=)
c.5493A>C (p.Thr1831=)
5g.37052422A>GCA3237143NIPBLc.7119A>G (p.Thr2373=)
n.1001A>G
c.1-12156A>G (n.1-12156A>G)
c.6375A>G (p.Thr2125=)
c.6921A>G (p.Thr2307=)
c.6738A>G (p.Thr2246=)
c.6459A>G (p.Thr2153=)
c.5502A>G (p.Thr1834=)
c.5493A>G (p.Thr1831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052422A>TCA443911526NIPBLc.7119A>T (p.Thr2373=)
n.1001A>T
c.1-12156A>T (n.1-12156A>T)
c.6375A>T (p.Thr2125=)
c.6921A>T (p.Thr2307=)
c.6738A>T (p.Thr2246=)
c.6459A>T (p.Thr2153=)
c.5502A>T (p.Thr1834=)
c.5493A>T (p.Thr1831=)
5g.37052423T>ACA359511290NIPBLc.7120T>A (p.Cys2374Ser)
n.1002T>A
c.1-12155T>A (n.1-12155T>A)
c.6376T>A (p.Cys2126Ser)
c.6922T>A (p.Cys2308Ser)
c.6739T>A (p.Cys2247Ser)
c.6460T>A (p.Cys2154Ser)
c.5503T>A (p.Cys1835Ser)
c.5494T>A (p.Cys1832Ser)
5g.37052423T>CCA359511294NIPBLc.7120T>C (p.Cys2374Arg)
n.1002T>C
c.1-12155T>C (n.1-12155T>C)
c.6376T>C (p.Cys2126Arg)
c.6922T>C (p.Cys2308Arg)
c.6739T>C (p.Cys2247Arg)
c.6460T>C (p.Cys2154Arg)
c.5503T>C (p.Cys1835Arg)
c.5494T>C (p.Cys1832Arg)
5g.37052423T>GCA359511291NIPBLc.7120T>G (p.Cys2374Gly)
n.1002T>G
c.1-12155T>G (n.1-12155T>G)
c.6376T>G (p.Cys2126Gly)
c.6922T>G (p.Cys2308Gly)
c.6739T>G (p.Cys2247Gly)
c.6460T>G (p.Cys2154Gly)
c.5503T>G (p.Cys1835Gly)
c.5494T>G (p.Cys1832Gly)
5g.37052424G>ACA359511297NIPBLc.7121G>A (p.Cys2374Tyr)
n.1003G>A
c.1-12154G>A (n.1-12154G>A)
c.6377G>A (p.Cys2126Tyr)
c.6923G>A (p.Cys2308Tyr)
c.6740G>A (p.Cys2247Tyr)
c.6461G>A (p.Cys2154Tyr)
c.5504G>A (p.Cys1835Tyr)
c.5495G>A (p.Cys1832Tyr)
5g.37052424G>CCA359511307NIPBLc.7121G>C (p.Cys2374Ser)
n.1003G>C
c.1-12154G>C (n.1-12154G>C)
c.6377G>C (p.Cys2126Ser)
c.6923G>C (p.Cys2308Ser)
c.6740G>C (p.Cys2247Ser)
c.6461G>C (p.Cys2154Ser)
c.5504G>C (p.Cys1835Ser)
c.5495G>C (p.Cys1832Ser)
5g.37052424G>TCA359511306NIPBLc.7121G>T (p.Cys2374Phe)
n.1003G>T
c.1-12154G>T (n.1-12154G>T)
c.6377G>T (p.Cys2126Phe)
c.6923G>T (p.Cys2308Phe)
c.6740G>T (p.Cys2247Phe)
c.6461G>T (p.Cys2154Phe)
c.5504G>T (p.Cys1835Phe)
c.5495G>T (p.Cys1832Phe)
5g.37052425C>ACA359511309NIPBLc.7122C>A (p.Cys2374Ter)
n.1004C>A
c.1-12153C>A (n.1-12153C>A)
c.6378C>A (p.Cys2126Ter)
c.6924C>A (p.Cys2308Ter)
c.6741C>A (p.Cys2247Ter)
c.6462C>A (p.Cys2154Ter)
c.5505C>A (p.Cys1835Ter)
c.5496C>A (p.Cys1832Ter)
5g.37052425C>GCA359511310NIPBLc.7122C>G (p.Cys2374Trp)
n.1004C>G
c.1-12153C>G (n.1-12153C>G)
c.6378C>G (p.Cys2126Trp)
c.6924C>G (p.Cys2308Trp)
c.6741C>G (p.Cys2247Trp)
c.6462C>G (p.Cys2154Trp)
c.5505C>G (p.Cys1835Trp)
c.5496C>G (p.Cys1832Trp)
5g.37052425C>TCA443911541NIPBLc.7122C>T (p.Cys2374=)
n.1004C>T
c.1-12153C>T (n.1-12153C>T)
c.6378C>T (p.Cys2126=)
c.6924C>T (p.Cys2308=)
c.6741C>T (p.Cys2247=)
c.6462C>T (p.Cys2154=)
c.5505C>T (p.Cys1835=)
c.5496C>T (p.Cys1832=)
5g.37052426C>ACA359511312NIPBLc.7123C>A (p.Leu2375Ile)
n.1005C>A
c.1-12152C>A (n.1-12152C>A)
c.6379C>A (p.Leu2127Ile)
c.6925C>A (p.Leu2309Ile)
c.6742C>A (p.Leu2248Ile)
c.6463C>A (p.Leu2155Ile)
c.5506C>A (p.Leu1836Ile)
c.5497C>A (p.Leu1833Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37052426C=CA1539572193NIPBLc.7123C= (p.Leu2375=)
n.1005C=
c.1-12152C= (n.1-12152C=)
c.6379C= (p.Leu2127=)
c.6925C= (p.Leu2309=)
c.6742C= (p.Leu2248=)
c.6463C= (p.Leu2155=)
c.5506C= (p.Leu1836=)
c.5497C= (p.Leu1833=)
5g.37052426C>GCA359511313NIPBLc.7123C>G (p.Leu2375Val)
n.1005C>G
c.1-12152C>G (n.1-12152C>G)
c.6379C>G (p.Leu2127Val)
c.6925C>G (p.Leu2309Val)
c.6742C>G (p.Leu2248Val)
c.6463C>G (p.Leu2155Val)
c.5506C>G (p.Leu1836Val)
c.5497C>G (p.Leu1833Val)
5g.37052426C>TCA443911548NIPBLc.7123C>T (p.Leu2375=)
n.1005C>T
c.1-12152C>T (n.1-12152C>T)
c.6379C>T (p.Leu2127=)
c.6925C>T (p.Leu2309=)
c.6742C>T (p.Leu2248=)
c.6463C>T (p.Leu2155=)
c.5506C>T (p.Leu1836=)
c.5497C>T (p.Leu1833=)
 gnomAD v4
5g.37052427T>ACA359511325NIPBLc.7124T>A (p.Leu2375Gln)
n.1006T>A
c.1-12151T>A (n.1-12151T>A)
c.6380T>A (p.Leu2127Gln)
c.6926T>A (p.Leu2309Gln)
c.6743T>A (p.Leu2248Gln)
c.6464T>A (p.Leu2155Gln)
c.5507T>A (p.Leu1836Gln)
c.5498T>A (p.Leu1833Gln)
5g.37052427T>CCA359511326NIPBLc.7124T>C (p.Leu2375Pro)
n.1006T>C
c.1-12151T>C (n.1-12151T>C)
c.6380T>C (p.Leu2127Pro)
c.6926T>C (p.Leu2309Pro)
c.6743T>C (p.Leu2248Pro)
c.6464T>C (p.Leu2155Pro)
c.5507T>C (p.Leu1836Pro)
c.5498T>C (p.Leu1833Pro)
5g.37052427T>GCA3237144NIPBLc.7124T>G (p.Leu2375Arg)
n.1006T>G
c.1-12151T>G (n.1-12151T>G)
c.6380T>G (p.Leu2127Arg)
c.6926T>G (p.Leu2309Arg)
c.6743T>G (p.Leu2248Arg)
c.6464T>G (p.Leu2155Arg)
c.5507T>G (p.Leu1836Arg)
c.5498T>G (p.Leu1833Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37052427T=CA1539572199NIPBLc.7124T= (p.Leu2375=)
n.1006T=
c.1-12151T= (n.1-12151T=)
c.6380T= (p.Leu2127=)
c.6926T= (p.Leu2309=)
c.6743T= (p.Leu2248=)
c.6464T= (p.Leu2155=)
c.5507T= (p.Leu1836=)
c.5498T= (p.Leu1833=)
5g.37052428A>CCA443911557NIPBLc.7125A>C (p.Leu2375=)
n.1007A>C
c.1-12150A>C (n.1-12150A>C)
c.6381A>C (p.Leu2127=)
c.6927A>C (p.Leu2309=)
c.6744A>C (p.Leu2248=)
c.6465A>C (p.Leu2155=)
c.5508A>C (p.Leu1836=)
c.5499A>C (p.Leu1833=)
5g.37052428A>GCA443911559NIPBLc.7125A>G (p.Leu2375=)
n.1007A>G
c.1-12150A>G (n.1-12150A>G)
c.6381A>G (p.Leu2127=)
c.6927A>G (p.Leu2309=)
c.6744A>G (p.Leu2248=)
c.6465A>G (p.Leu2155=)
c.5508A>G (p.Leu1836=)
c.5499A>G (p.Leu1833=)
5g.37052428A>TCA443911555NIPBLc.7125A>T (p.Leu2375=)
n.1007A>T
c.1-12150A>T (n.1-12150A>T)
c.6381A>T (p.Leu2127=)
c.6927A>T (p.Leu2309=)
c.6744A>T (p.Leu2248=)
c.6465A>T (p.Leu2155=)
c.5508A>T (p.Leu1836=)
c.5499A>T (p.Leu1833=)
5g.37052429A>CCA359511327NIPBLc.7126A>C (p.Lys2376Gln)
n.1008A>C
c.1-12149A>C (n.1-12149A>C)
c.6382A>C (p.Lys2128Gln)
c.6928A>C (p.Lys2310Gln)
c.6745A>C (p.Lys2249Gln)
c.6466A>C (p.Lys2156Gln)
c.5509A>C (p.Lys1837Gln)
c.5500A>C (p.Lys1834Gln)
5g.37052429A>GCA359511328NIPBLc.7126A>G (p.Lys2376Glu)
n.1008A>G
c.1-12149A>G (n.1-12149A>G)
c.6382A>G (p.Lys2128Glu)
c.6928A>G (p.Lys2310Glu)
c.6745A>G (p.Lys2249Glu)
c.6466A>G (p.Lys2156Glu)
c.5509A>G (p.Lys1837Glu)
c.5500A>G (p.Lys1834Glu)
5g.37052429A>TCA359511329NIPBLc.7126A>T (p.Lys2376Ter)
n.1008A>T
c.1-12149A>T (n.1-12149A>T)
c.6382A>T (p.Lys2128Ter)
c.6928A>T (p.Lys2310Ter)
c.6745A>T (p.Lys2249Ter)
c.6466A>T (p.Lys2156Ter)
c.5509A>T (p.Lys1837Ter)
c.5500A>T (p.Lys1834Ter)
5g.37052430A>CCA359511331NIPBLc.7127A>C (p.Lys2376Thr)
n.1009A>C
c.1-12148A>C (n.1-12148A>C)
c.6383A>C (p.Lys2128Thr)
c.6929A>C (p.Lys2310Thr)
c.6746A>C (p.Lys2249Thr)
c.6467A>C (p.Lys2156Thr)
c.5510A>C (p.Lys1837Thr)
c.5501A>C (p.Lys1834Thr)
5g.37052430A>GCA359511334NIPBLc.7127A>G (p.Lys2376Arg)
n.1009A>G
c.1-12148A>G (n.1-12148A>G)
c.6383A>G (p.Lys2128Arg)
c.6929A>G (p.Lys2310Arg)
c.6746A>G (p.Lys2249Arg)
c.6467A>G (p.Lys2156Arg)
c.5510A>G (p.Lys1837Arg)
c.5501A>G (p.Lys1834Arg)
5g.37052430A>TCA359511337NIPBLc.7127A>T (p.Lys2376Ile)
n.1009A>T
c.1-12148A>T (n.1-12148A>T)
c.6383A>T (p.Lys2128Ile)
c.6929A>T (p.Lys2310Ile)
c.6746A>T (p.Lys2249Ile)
c.6467A>T (p.Lys2156Ile)
c.5510A>T (p.Lys1837Ile)
c.5501A>T (p.Lys1834Ile)
5g.37052431A>CCA359511341NIPBLc.7128A>C (p.Lys2376Asn)
n.1010A>C
c.1-12147A>C (n.1-12147A>C)
c.6384A>C (p.Lys2128Asn)
c.6930A>C (p.Lys2310Asn)
c.6747A>C (p.Lys2249Asn)
c.6468A>C (p.Lys2156Asn)
c.5511A>C (p.Lys1837Asn)
c.5502A>C (p.Lys1834Asn)
 gnomAD v4
5g.37052431A>GCA443911572NIPBLc.7128A>G (p.Lys2376=)
n.1010A>G
c.1-12147A>G (n.1-12147A>G)
c.6384A>G (p.Lys2128=)
c.6930A>G (p.Lys2310=)
c.6747A>G (p.Lys2249=)
c.6468A>G (p.Lys2156=)
c.5511A>G (p.Lys1837=)
c.5502A>G (p.Lys1834=)
5g.37052431A>TCA359511343NIPBLc.7128A>T (p.Lys2376Asn)
n.1010A>T
c.1-12147A>T (n.1-12147A>T)
c.6384A>T (p.Lys2128Asn)
c.6930A>T (p.Lys2310Asn)
c.6747A>T (p.Lys2249Asn)
c.6468A>T (p.Lys2156Asn)
c.5511A>T (p.Lys1837Asn)
c.5502A>T (p.Lys1834Asn)
5g.37052432G>ACA359511345NIPBLc.7129G>A (p.Asp2377Asn)
n.1011G>A
c.1-12146G>A (n.1-12146G>A)
c.6385G>A (p.Asp2129Asn)
c.6931G>A (p.Asp2311Asn)
c.6748G>A (p.Asp2250Asn)
c.6469G>A (p.Asp2157Asn)
c.5512G>A (p.Asp1838Asn)
c.5503G>A (p.Asp1835Asn)
5g.37052432G>CCA3237145NIPBLc.7129G>C (p.Asp2377His)
n.1011G>C
c.1-12146G>C (n.1-12146G>C)
c.6385G>C (p.Asp2129His)
c.6931G>C (p.Asp2311His)
c.6748G>C (p.Asp2250His)
c.6469G>C (p.Asp2157His)
c.5512G>C (p.Asp1838His)
c.5503G>C (p.Asp1835His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052432G=CA1539572205NIPBLc.7129G= (p.Asp2377=)
n.1011G=
c.1-12146G= (n.1-12146G=)
c.6385G= (p.Asp2129=)
c.6931G= (p.Asp2311=)
c.6748G= (p.Asp2250=)
c.6469G= (p.Asp2157=)
c.5512G= (p.Asp1838=)
c.5503G= (p.Asp1835=)
5g.37052432G>TCA359511348NIPBLc.7129G>T (p.Asp2377Tyr)
n.1011G>T
c.1-12146G>T (n.1-12146G>T)
c.6385G>T (p.Asp2129Tyr)
c.6931G>T (p.Asp2311Tyr)
c.6748G>T (p.Asp2250Tyr)
c.6469G>T (p.Asp2157Tyr)
c.5512G>T (p.Asp1838Tyr)
c.5503G>T (p.Asp1835Tyr)
5g.37052433A>CCA359511350NIPBLc.7130A>C (p.Asp2377Ala)
n.1012A>C
c.1-12145A>C (n.1-12145A>C)
c.6386A>C (p.Asp2129Ala)
c.6932A>C (p.Asp2311Ala)
c.6749A>C (p.Asp2250Ala)
c.6470A>C (p.Asp2157Ala)
c.5513A>C (p.Asp1838Ala)
c.5504A>C (p.Asp1835Ala)
5g.37052433A>GCA359511351NIPBLc.7130A>G (p.Asp2377Gly)
n.1012A>G
c.1-12145A>G (n.1-12145A>G)
c.6386A>G (p.Asp2129Gly)
c.6932A>G (p.Asp2311Gly)
c.6749A>G (p.Asp2250Gly)
c.6470A>G (p.Asp2157Gly)
c.5513A>G (p.Asp1838Gly)
c.5504A>G (p.Asp1835Gly)
5g.37052433A>TCA359511352NIPBLc.7130A>T (p.Asp2377Val)
n.1012A>T
c.1-12145A>T (n.1-12145A>T)
c.6386A>T (p.Asp2129Val)
c.6932A>T (p.Asp2311Val)
c.6749A>T (p.Asp2250Val)
c.6470A>T (p.Asp2157Val)
c.5513A>T (p.Asp1838Val)
c.5504A>T (p.Asp1835Val)
5g.37052434T>ACA359511353NIPBLc.7131T>A (p.Asp2377Glu)
n.1013T>A
c.1-12144T>A (n.1-12144T>A)
c.6387T>A (p.Asp2129Glu)
c.6933T>A (p.Asp2311Glu)
c.6750T>A (p.Asp2250Glu)
c.6471T>A (p.Asp2157Glu)
c.5514T>A (p.Asp1838Glu)
c.5505T>A (p.Asp1835Glu)
5g.37052434T>CCA443911589NIPBLc.7131T>C (p.Asp2377=)
n.1013T>C
c.1-12144T>C (n.1-12144T>C)
c.6387T>C (p.Asp2129=)
c.6933T>C (p.Asp2311=)
c.6750T>C (p.Asp2250=)
c.6471T>C (p.Asp2157=)
c.5514T>C (p.Asp1838=)
c.5505T>C (p.Asp1835=)
5g.37052434T>GCA359511355NIPBLc.7131T>G (p.Asp2377Glu)
n.1013T>G
c.1-12144T>G (n.1-12144T>G)
c.6387T>G (p.Asp2129Glu)
c.6933T>G (p.Asp2311Glu)
c.6750T>G (p.Asp2250Glu)
c.6471T>G (p.Asp2157Glu)
c.5514T>G (p.Asp1838Glu)
c.5505T>G (p.Asp1835Glu)
5g.37052435C>ACA359511359NIPBLc.7132C>A (p.Pro2378Thr)
n.1014C>A
c.1-12143C>A (n.1-12143C>A)
c.6388C>A (p.Pro2130Thr)
c.6934C>A (p.Pro2312Thr)
c.6751C>A (p.Pro2251Thr)
c.6472C>A (p.Pro2158Thr)
c.5515C>A (p.Pro1839Thr)
c.5506C>A (p.Pro1836Thr)
 gnomAD v4
5g.37052435C=CA1539572211NIPBLc.7132C= (p.Pro2378=)
n.1014C=
c.1-12143C= (n.1-12143C=)
c.6388C= (p.Pro2130=)
c.6934C= (p.Pro2312=)
c.6751C= (p.Pro2251=)
c.6472C= (p.Pro2158=)
c.5515C= (p.Pro1839=)
c.5506C= (p.Pro1836=)
5g.37052435C>GCA3237146NIPBLc.7132C>G (p.Pro2378Ala)
n.1014C>G
c.1-12143C>G (n.1-12143C>G)
c.6388C>G (p.Pro2130Ala)
c.6934C>G (p.Pro2312Ala)
c.6751C>G (p.Pro2251Ala)
c.6472C>G (p.Pro2158Ala)
c.5515C>G (p.Pro1839Ala)
c.5506C>G (p.Pro1836Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37052435C>TCA359511363NIPBLc.7132C>T (p.Pro2378Ser)
n.1014C>T
c.1-12143C>T (n.1-12143C>T)
c.6388C>T (p.Pro2130Ser)
c.6934C>T (p.Pro2312Ser)
c.6751C>T (p.Pro2251Ser)
c.6472C>T (p.Pro2158Ser)
c.5515C>T (p.Pro1839Ser)
c.5506C>T (p.Pro1836Ser)
5g.37052436C>ACA359511369NIPBLc.7133C>A (p.Pro2378His)
n.1015C>A
c.1-12142C>A (n.1-12142C>A)
c.6389C>A (p.Pro2130His)
c.6935C>A (p.Pro2312His)
c.6752C>A (p.Pro2251His)
c.6473C>A (p.Pro2158His)
c.5516C>A (p.Pro1839His)
c.5507C>A (p.Pro1836His)
5g.37052436C=CA1539572216NIPBLc.7133C= (p.Pro2378=)
n.1015C=
c.1-12142C= (n.1-12142C=)
c.6389C= (p.Pro2130=)
c.6935C= (p.Pro2312=)
c.6752C= (p.Pro2251=)
c.6473C= (p.Pro2158=)
c.5516C= (p.Pro1839=)
c.5507C= (p.Pro1836=)
5g.37052436C>GCA359511367NIPBLc.7133C>G (p.Pro2378Arg)
n.1015C>G
c.1-12142C>G (n.1-12142C>G)
c.6389C>G (p.Pro2130Arg)
c.6935C>G (p.Pro2312Arg)
c.6752C>G (p.Pro2251Arg)
c.6473C>G (p.Pro2158Arg)
c.5516C>G (p.Pro1839Arg)
c.5507C>G (p.Pro1836Arg)
5g.37052436C>TCA359511365NIPBLc.7133C>T (p.Pro2378Leu)
n.1015C>T
c.1-12142C>T (n.1-12142C>T)
c.6389C>T (p.Pro2130Leu)
c.6935C>T (p.Pro2312Leu)
c.6752C>T (p.Pro2251Leu)
c.6473C>T (p.Pro2158Leu)
c.5516C>T (p.Pro1839Leu)
c.5507C>T (p.Pro1836Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.37052437T>ACA443911601NIPBLc.7134T>A (p.Pro2378=)
n.1016T>A
c.1-12141T>A (n.1-12141T>A)
c.6390T>A (p.Pro2130=)
c.6936T>A (p.Pro2312=)
c.6753T>A (p.Pro2251=)
c.6474T>A (p.Pro2158=)
c.5517T>A (p.Pro1839=)
c.5508T>A (p.Pro1836=)
5g.37052437T>CCA443911604NIPBLc.7134T>C (p.Pro2378=)
n.1016T>C
c.1-12141T>C (n.1-12141T>C)
c.6390T>C (p.Pro2130=)
c.6936T>C (p.Pro2312=)
c.6753T>C (p.Pro2251=)
c.6474T>C (p.Pro2158=)
c.5517T>C (p.Pro1839=)
c.5508T>C (p.Pro1836=)
 dbSNP gnomAD v4
5g.37052437T>GCA443911606NIPBLc.7134T>G (p.Pro2378=)
n.1016T>G
c.1-12141T>G (n.1-12141T>G)
c.6390T>G (p.Pro2130=)
c.6936T>G (p.Pro2312=)
c.6753T>G (p.Pro2251=)
c.6474T>G (p.Pro2158=)
c.5517T>G (p.Pro1839=)
c.5508T>G (p.Pro1836=)
5g.37052437T=CA1539572219NIPBLc.7134T= (p.Pro2378=)
n.1016T=
c.1-12141T= (n.1-12141T=)
c.6390T= (p.Pro2130=)
c.6936T= (p.Pro2312=)
c.6753T= (p.Pro2251=)
c.6474T= (p.Pro2158=)
c.5517T= (p.Pro1839=)
c.5508T= (p.Pro1836=)
5g.37052438G>ACA359511377NIPBLc.7135G>A (p.Val2379Ile)
n.1017G>A
c.1-12140G>A (n.1-12140G>A)
c.6391G>A (p.Val2131Ile)
c.6937G>A (p.Val2313Ile)
c.6754G>A (p.Val2252Ile)
c.6475G>A (p.Val2159Ile)
c.5518G>A (p.Val1840Ile)
c.5509G>A (p.Val1837Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.37052438G>CCA359511372NIPBLc.7135G>C (p.Val2379Leu)
n.1017G>C
c.1-12140G>C (n.1-12140G>C)
c.6391G>C (p.Val2131Leu)
c.6937G>C (p.Val2313Leu)
c.6754G>C (p.Val2252Leu)
c.6475G>C (p.Val2159Leu)
c.5518G>C (p.Val1840Leu)
c.5509G>C (p.Val1837Leu)
5g.37052438G=CA1539572229NIPBLc.7135G= (p.Val2379=)
n.1017G=
c.1-12140G= (n.1-12140G=)
c.6391G= (p.Val2131=)
c.6937G= (p.Val2313=)
c.6754G= (p.Val2252=)
c.6475G= (p.Val2159=)
c.5518G= (p.Val1840=)
c.5509G= (p.Val1837=)
5g.37052438G>TCA359511375NIPBLc.7135G>T (p.Val2379Leu)
n.1017G>T
c.1-12140G>T (n.1-12140G>T)
c.6391G>T (p.Val2131Leu)
c.6937G>T (p.Val2313Leu)
c.6754G>T (p.Val2252Leu)
c.6475G>T (p.Val2159Leu)
c.5518G>T (p.Val1840Leu)
c.5509G>T (p.Val1837Leu)
5g.37052439T>ACA359511380NIPBLc.7136T>A (p.Val2379Glu)
n.1018T>A
c.1-12139T>A (n.1-12139T>A)
c.6392T>A (p.Val2131Glu)
c.6938T>A (p.Val2313Glu)
c.6755T>A (p.Val2252Glu)
c.6476T>A (p.Val2159Glu)
c.5519T>A (p.Val1840Glu)
c.5510T>A (p.Val1837Glu)
5g.37052439T>CCA359511382NIPBLc.7136T>C (p.Val2379Ala)
n.1018T>C
c.1-12139T>C (n.1-12139T>C)
c.6392T>C (p.Val2131Ala)
c.6938T>C (p.Val2313Ala)
c.6755T>C (p.Val2252Ala)
c.6476T>C (p.Val2159Ala)
c.5519T>C (p.Val1840Ala)
c.5510T>C (p.Val1837Ala)
5g.37052439T>GCA359511384NIPBLc.7136T>G (p.Val2379Gly)
n.1018T>G
c.1-12139T>G (n.1-12139T>G)
c.6392T>G (p.Val2131Gly)
c.6938T>G (p.Val2313Gly)
c.6755T>G (p.Val2252Gly)
c.6476T>G (p.Val2159Gly)
c.5519T>G (p.Val1840Gly)
c.5510T>G (p.Val1837Gly)
5g.37052440A>CCA443911615NIPBLc.7137A>C (p.Val2379=)
n.1019A>C
c.1-12138A>C (n.1-12138A>C)
c.6393A>C (p.Val2131=)
c.6939A>C (p.Val2313=)
c.6756A>C (p.Val2252=)
c.6477A>C (p.Val2159=)
c.5520A>C (p.Val1840=)
c.5511A>C (p.Val1837=)
5g.37052440A>GCA443911617NIPBLc.7137A>G (p.Val2379=)
n.1019A>G
c.1-12138A>G (n.1-12138A>G)
c.6393A>G (p.Val2131=)
c.6939A>G (p.Val2313=)
c.6756A>G (p.Val2252=)
c.6477A>G (p.Val2159=)
c.5520A>G (p.Val1840=)
c.5511A>G (p.Val1837=)
 gnomAD v4
5g.37052440A>TCA443911620NIPBLc.7137A>T (p.Val2379=)
n.1019A>T
c.1-12138A>T (n.1-12138A>T)
c.6393A>T (p.Val2131=)
c.6939A>T (p.Val2313=)
c.6756A>T (p.Val2252=)
c.6477A>T (p.Val2159=)
c.5520A>T (p.Val1840=)
c.5511A>T (p.Val1837=)
5g.37052441A>CCA443911622NIPBLc.7138A>C (p.Arg2380=)
n.1020A>C
c.1-12137A>C (n.1-12137A>C)
c.6394A>C (p.Arg2132=)
c.6940A>C (p.Arg2314=)
c.6757A>C (p.Arg2253=)
c.6478A>C (p.Arg2160=)
c.5521A>C (p.Arg1841=)
c.5512A>C (p.Arg1838=)
5g.37052441A>GCA359511385NIPBLc.7138A>G (p.Arg2380Gly)
n.1020A>G
c.1-12137A>G (n.1-12137A>G)
c.6394A>G (p.Arg2132Gly)
c.6940A>G (p.Arg2314Gly)
c.6757A>G (p.Arg2253Gly)
c.6478A>G (p.Arg2160Gly)
c.5521A>G (p.Arg1841Gly)
c.5512A>G (p.Arg1838Gly)
5g.37052441A>TCA359511386NIPBLc.7138A>T (p.Arg2380Trp)
n.1020A>T
c.1-12137A>T (n.1-12137A>T)
c.6394A>T (p.Arg2132Trp)
c.6940A>T (p.Arg2314Trp)
c.6757A>T (p.Arg2253Trp)
c.6478A>T (p.Arg2160Trp)
c.5521A>T (p.Arg1841Trp)
c.5512A>T (p.Arg1838Trp)
5g.37052442G>ACA359511387NIPBLc.7139G>A (p.Arg2380Lys)
n.1021G>A
c.1-12136G>A (n.1-12136G>A)
c.6395G>A (p.Arg2132Lys)
c.6941G>A (p.Arg2314Lys)
c.6758G>A (p.Arg2253Lys)
c.6479G>A (p.Arg2160Lys)
c.5522G>A (p.Arg1841Lys)
c.5513G>A (p.Arg1838Lys)
5g.37052442G>CCA359511388NIPBLc.7139G>C (p.Arg2380Thr)
n.1021G>C
c.1-12136G>C (n.1-12136G>C)
c.6395G>C (p.Arg2132Thr)
c.6941G>C (p.Arg2314Thr)
c.6758G>C (p.Arg2253Thr)
c.6479G>C (p.Arg2160Thr)
c.5522G>C (p.Arg1841Thr)
c.5513G>C (p.Arg1838Thr)
5g.37052442G>TCA359511389NIPBLc.7139G>T (p.Arg2380Met)
n.1021G>T
c.1-12136G>T (n.1-12136G>T)
c.6395G>T (p.Arg2132Met)
c.6941G>T (p.Arg2314Met)
c.6758G>T (p.Arg2253Met)
c.6479G>T (p.Arg2160Met)
c.5522G>T (p.Arg1841Met)
c.5513G>T (p.Arg1838Met)
5g.37052443G>ACA443911632NIPBLc.7140G>A (p.Arg2380=)
n.1022G>A
c.1-12135G>A (n.1-12135G>A)
c.6396G>A (p.Arg2132=)
c.6942G>A (p.Arg2314=)
c.6759G>A (p.Arg2253=)
c.6480G>A (p.Arg2160=)
c.5523G>A (p.Arg1841=)
c.5514G>A (p.Arg1838=)
5g.37052443G>CCA359511390NIPBLc.7140G>C (p.Arg2380Ser)
n.1022G>C
c.1-12135G>C (n.1-12135G>C)
c.6396G>C (p.Arg2132Ser)
c.6942G>C (p.Arg2314Ser)
c.6759G>C (p.Arg2253Ser)
c.6480G>C (p.Arg2160Ser)
c.5523G>C (p.Arg1841Ser)
c.5514G>C (p.Arg1838Ser)
5g.37052443G>TCA359511391NIPBLc.7140G>T (p.Arg2380Ser)
n.1022G>T
c.1-12135G>T (n.1-12135G>T)
c.6396G>T (p.Arg2132Ser)
c.6942G>T (p.Arg2314Ser)
c.6759G>T (p.Arg2253Ser)
c.6480G>T (p.Arg2160Ser)
c.5523G>T (p.Arg1841Ser)
c.5514G>T (p.Arg1838Ser)
5g.37052444G>ACA272289NIPBLc.7141G>A (p.Gly2381Ser)
n.1023G>A
c.1-12134G>A (n.1-12134G>A)
c.6397G>A (p.Gly2133Ser)
c.6943G>A (p.Gly2315Ser)
c.6760G>A (p.Gly2254Ser)
c.6481G>A (p.Gly2161Ser)
c.5524G>A (p.Gly1842Ser)
c.5515G>A (p.Gly1839Ser)
 ClinVar dbSNP
5g.37052444G>CCA359511395NIPBLc.7141G>C (p.Gly2381Arg)
n.1023G>C
c.1-12134G>C (n.1-12134G>C)
c.6397G>C (p.Gly2133Arg)
c.6943G>C (p.Gly2315Arg)
c.6760G>C (p.Gly2254Arg)
c.6481G>C (p.Gly2161Arg)
c.5524G>C (p.Gly1842Arg)
c.5515G>C (p.Gly1839Arg)
 ClinVar
5g.37052444G=CA1539572234NIPBLc.7141G= (p.Gly2381=)
n.1023G=
c.1-12134G= (n.1-12134G=)
c.6397G= (p.Gly2133=)
c.6943G= (p.Gly2315=)
c.6760G= (p.Gly2254=)
c.6481G= (p.Gly2161=)
c.5524G= (p.Gly1842=)
c.5515G= (p.Gly1839=)
5g.37052444G>TCA359511393NIPBLc.7141G>T (p.Gly2381Cys)
n.1023G>T
c.1-12134G>T (n.1-12134G>T)
c.6397G>T (p.Gly2133Cys)
c.6943G>T (p.Gly2315Cys)
c.6760G>T (p.Gly2254Cys)
c.6481G>T (p.Gly2161Cys)
c.5524G>T (p.Gly1842Cys)
c.5515G>T (p.Gly1839Cys)
5g.37052445G>ACA359511397NIPBLc.7142G>A (p.Gly2381Asp)
n.1024G>A
c.1-12133G>A (n.1-12133G>A)
c.6398G>A (p.Gly2133Asp)
c.6944G>A (p.Gly2315Asp)
c.6761G>A (p.Gly2254Asp)
c.6482G>A (p.Gly2161Asp)
c.5525G>A (p.Gly1842Asp)
c.5516G>A (p.Gly1839Asp)
5g.37052445G>CCA359511398NIPBLc.7142G>C (p.Gly2381Ala)
n.1024G>C
c.1-12133G>C (n.1-12133G>C)
c.6398G>C (p.Gly2133Ala)
c.6944G>C (p.Gly2315Ala)
c.6761G>C (p.Gly2254Ala)
c.6482G>C (p.Gly2161Ala)
c.5525G>C (p.Gly1842Ala)
c.5516G>C (p.Gly1839Ala)
5g.37052445G>TCA359511401NIPBLc.7142G>T (p.Gly2381Val)
n.1024G>T
c.1-12133G>T (n.1-12133G>T)
c.6398G>T (p.Gly2133Val)
c.6944G>T (p.Gly2315Val)
c.6761G>T (p.Gly2254Val)
c.6482G>T (p.Gly2161Val)
c.5525G>T (p.Gly1842Val)
c.5516G>T (p.Gly1839Val)
5g.37052446T>ACA443911644NIPBLc.7143T>A (p.Gly2381=)
n.1025T>A
c.1-12132T>A (n.1-12132T>A)
c.6399T>A (p.Gly2133=)
c.6945T>A (p.Gly2315=)
c.6762T>A (p.Gly2254=)
c.6483T>A (p.Gly2161=)
c.5526T>A (p.Gly1842=)
c.5517T>A (p.Gly1839=)
5g.37052446T>CCA443911646NIPBLc.7143T>C (p.Gly2381=)
n.1025T>C
c.1-12132T>C (n.1-12132T>C)
c.6399T>C (p.Gly2133=)
c.6945T>C (p.Gly2315=)
c.6762T>C (p.Gly2254=)
c.6483T>C (p.Gly2161=)
c.5526T>C (p.Gly1842=)
c.5517T>C (p.Gly1839=)
5g.37052446T>GCA443911648NIPBLc.7143T>G (p.Gly2381=)
n.1025T>G
c.1-12132T>G (n.1-12132T>G)
c.6399T>G (p.Gly2133=)
c.6945T>G (p.Gly2315=)
c.6762T>G (p.Gly2254=)
c.6483T>G (p.Gly2161=)
c.5526T>G (p.Gly1842=)
c.5517T>G (p.Gly1839=)
5g.37052447T>ACA359511412NIPBLc.7144T>A (p.Phe2382Ile)
n.1026T>A
c.1-12131T>A (n.1-12131T>A)
c.6400T>A (p.Phe2134Ile)
c.6946T>A (p.Phe2316Ile)
c.6763T>A (p.Phe2255Ile)
c.6484T>A (p.Phe2162Ile)
c.5527T>A (p.Phe1843Ile)
c.5518T>A (p.Phe1840Ile)
5g.37052447T>CCA359511416NIPBLc.7144T>C (p.Phe2382Leu)
n.1026T>C
c.1-12131T>C (n.1-12131T>C)
c.6400T>C (p.Phe2134Leu)
c.6946T>C (p.Phe2316Leu)
c.6763T>C (p.Phe2255Leu)
c.6484T>C (p.Phe2162Leu)
c.5527T>C (p.Phe1843Leu)
c.5518T>C (p.Phe1840Leu)
5g.37052447T>GCA359511418NIPBLc.7144T>G (p.Phe2382Val)
n.1026T>G
c.1-12131T>G (n.1-12131T>G)
c.6400T>G (p.Phe2134Val)
c.6946T>G (p.Phe2316Val)
c.6763T>G (p.Phe2255Val)
c.6484T>G (p.Phe2162Val)
c.5527T>G (p.Phe1843Val)
c.5518T>G (p.Phe1840Val)
5g.37052448T>ACA359511419NIPBLc.7145T>A (p.Phe2382Tyr)
n.1027T>A
c.1-12130T>A (n.1-12130T>A)
c.6401T>A (p.Phe2134Tyr)
c.6947T>A (p.Phe2316Tyr)
c.6764T>A (p.Phe2255Tyr)
c.6485T>A (p.Phe2162Tyr)
c.5528T>A (p.Phe1843Tyr)
c.5519T>A (p.Phe1840Tyr)
5g.37052448T>CCA359511422NIPBLc.7145T>C (p.Phe2382Ser)
n.1027T>C
c.1-12130T>C (n.1-12130T>C)
c.6401T>C (p.Phe2134Ser)
c.6947T>C (p.Phe2316Ser)
c.6764T>C (p.Phe2255Ser)
c.6485T>C (p.Phe2162Ser)
c.5528T>C (p.Phe1843Ser)
c.5519T>C (p.Phe1840Ser)
5g.37052448T>GCA359511426NIPBLc.7145T>G (p.Phe2382Cys)
n.1027T>G
c.1-12130T>G (n.1-12130T>G)
c.6401T>G (p.Phe2134Cys)
c.6947T>G (p.Phe2316Cys)
c.6764T>G (p.Phe2255Cys)
c.6485T>G (p.Phe2162Cys)
c.5528T>G (p.Phe1843Cys)
c.5519T>G (p.Phe1840Cys)
5g.37052449C>ACA359511428NIPBLc.7146C>A (p.Phe2382Leu)
n.1028C>A
c.1-12129C>A (n.1-12129C>A)
c.6402C>A (p.Phe2134Leu)
c.6948C>A (p.Phe2316Leu)
c.6765C>A (p.Phe2255Leu)
c.6486C>A (p.Phe2162Leu)
c.5529C>A (p.Phe1843Leu)
c.5520C>A (p.Phe1840Leu)
5g.37052449C>GCA359511430NIPBLc.7146C>G (p.Phe2382Leu)
n.1028C>G
c.1-12129C>G (n.1-12129C>G)
c.6402C>G (p.Phe2134Leu)
c.6948C>G (p.Phe2316Leu)
c.6765C>G (p.Phe2255Leu)
c.6486C>G (p.Phe2162Leu)
c.5529C>G (p.Phe1843Leu)
c.5520C>G (p.Phe1840Leu)
5g.37052449C>TCA443911661NIPBLc.7146C>T (p.Phe2382=)
n.1028C>T
c.1-12129C>T (n.1-12129C>T)
c.6402C>T (p.Phe2134=)
c.6948C>T (p.Phe2316=)
c.6765C>T (p.Phe2255=)
c.6486C>T (p.Phe2162=)
c.5529C>T (p.Phe1843=)
c.5520C>T (p.Phe1840=)
 COSMIC
5g.37052450A>CCA443911666NIPBLc.7147A>C (p.Arg2383=)
n.1029A>C
c.1-12128A>C (n.1-12128A>C)
c.6403A>C (p.Arg2135=)
c.6949A>C (p.Arg2317=)
c.6766A>C (p.Arg2256=)
c.6487A>C (p.Arg2163=)
c.5530A>C (p.Arg1844=)
c.5521A>C (p.Arg1841=)
5g.37052450A>GCA359511433NIPBLc.7147A>G (p.Arg2383Gly)
n.1029A>G
c.1-12128A>G (n.1-12128A>G)
c.6403A>G (p.Arg2135Gly)
c.6949A>G (p.Arg2317Gly)
c.6766A>G (p.Arg2256Gly)
c.6487A>G (p.Arg2163Gly)
c.5530A>G (p.Arg1844Gly)
c.5521A>G (p.Arg1841Gly)
5g.37052450A>TCA359511434NIPBLc.7147A>T (p.Arg2383Ter)
n.1029A>T
c.1-12128A>T (n.1-12128A>T)
c.6403A>T (p.Arg2135Ter)
c.6949A>T (p.Arg2317Ter)
c.6766A>T (p.Arg2256Ter)
c.6487A>T (p.Arg2163Ter)
c.5530A>T (p.Arg1844Ter)
c.5521A>T (p.Arg1841Ter)
5g.37052454_37052458delCA2695204433NIPBLc.7151_7155del (p.Gln2384ArgfsTer4)
n.1033_1037del
c.1-12124_1-12120del (n.1-12124_1-12120del)
c.6407_6411del (p.Gln2136ArgfsTer4)
c.6953_6957del (p.Gln2318ArgfsTer4)
c.6770_6774del (p.Gln2257ArgfsTer4)
c.6491_6495del (p.Gln2164ArgfsTer4)
c.5534_5538del (p.Gln1845ArgfsTer4)
c.5525_5529del (p.Gln1842ArgfsTer4)
5g.37052451G>ACA359511439NIPBLc.7148G>A (p.Arg2383Lys)
n.1030G>A
c.1-12127G>A (n.1-12127G>A)
c.6404G>A (p.Arg2135Lys)
c.6950G>A (p.Arg2317Lys)
c.6767G>A (p.Arg2256Lys)
c.6488G>A (p.Arg2163Lys)
c.5531G>A (p.Arg1844Lys)
c.5522G>A (p.Arg1841Lys)
5g.37052451G>CCA359511440NIPBLc.7148G>C (p.Arg2383Thr)
n.1030G>C
c.1-12127G>C (n.1-12127G>C)
c.6404G>C (p.Arg2135Thr)
c.6950G>C (p.Arg2317Thr)
c.6767G>C (p.Arg2256Thr)
c.6488G>C (p.Arg2163Thr)
c.5531G>C (p.Arg1844Thr)
c.5522G>C (p.Arg1841Thr)
5g.37052451G>TCA359511437NIPBLc.7148G>T (p.Arg2383Ile)
n.1030G>T
c.1-12127G>T (n.1-12127G>T)
c.6404G>T (p.Arg2135Ile)
c.6950G>T (p.Arg2317Ile)
c.6767G>T (p.Arg2256Ile)
c.6488G>T (p.Arg2163Ile)
c.5531G>T (p.Arg1844Ile)
c.5522G>T (p.Arg1841Ile)
5g.37052452A=CA1539572242NIPBLc.7149A= (p.Arg2383=)
n.1031A=
c.1-12126A= (n.1-12126A=)
c.6405A= (p.Arg2135=)
c.6951A= (p.Arg2317=)
c.6768A= (p.Arg2256=)
c.6489A= (p.Arg2163=)
c.5532A= (p.Arg1844=)
c.5523A= (p.Arg1841=)
5g.37052452A>CCA359511443NIPBLc.7149A>C (p.Arg2383Ser)
n.1031A>C
c.1-12126A>C (n.1-12126A>C)
c.6405A>C (p.Arg2135Ser)
c.6951A>C (p.Arg2317Ser)
c.6768A>C (p.Arg2256Ser)
c.6489A>C (p.Arg2163Ser)
c.5532A>C (p.Arg1844Ser)
c.5523A>C (p.Arg1841Ser)
5g.37052452A>GCA3237147NIPBLc.7149A>G (p.Arg2383=)
n.1031A>G
c.1-12126A>G (n.1-12126A>G)
c.6405A>G (p.Arg2135=)
c.6951A>G (p.Arg2317=)
c.6768A>G (p.Arg2256=)
c.6489A>G (p.Arg2163=)
c.5532A>G (p.Arg1844=)
c.5523A>G (p.Arg1841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37052452A>TCA359511447NIPBLc.7149A>T (p.Arg2383Ser)
n.1031A>T
c.1-12126A>T (n.1-12126A>T)
c.6405A>T (p.Arg2135Ser)
c.6951A>T (p.Arg2317Ser)
c.6768A>T (p.Arg2256Ser)
c.6489A>T (p.Arg2163Ser)
c.5532A>T (p.Arg1844Ser)
c.5523A>T (p.Arg1841Ser)
5g.37052453C>ACA359511450NIPBLc.7150C>A (p.Gln2384Lys)
n.1032C>A
c.1-12125C>A (n.1-12125C>A)
c.6406C>A (p.Gln2136Lys)
c.6952C>A (p.Gln2318Lys)
c.6769C>A (p.Gln2257Lys)
c.6490C>A (p.Gln2164Lys)
c.5533C>A (p.Gln1845Lys)
c.5524C>A (p.Gln1842Lys)
5g.37052453C=CA1539572246NIPBLc.7150C= (p.Gln2384=)
n.1032C=
c.1-12125C= (n.1-12125C=)
c.6406C= (p.Gln2136=)
c.6952C= (p.Gln2318=)
c.6769C= (p.Gln2257=)
c.6490C= (p.Gln2164=)
c.5533C= (p.Gln1845=)
c.5524C= (p.Gln1842=)
5g.37052453C>GCA359511452NIPBLc.7150C>G (p.Gln2384Glu)
n.1032C>G
c.1-12125C>G (n.1-12125C>G)
c.6406C>G (p.Gln2136Glu)
c.6952C>G (p.Gln2318Glu)
c.6769C>G (p.Gln2257Glu)
c.6490C>G (p.Gln2164Glu)
c.5533C>G (p.Gln1845Glu)
c.5524C>G (p.Gln1842Glu)
5g.37052453C>TCA10654758NIPBLc.7150C>T (p.Gln2384Ter)
n.1032C>T
c.1-12125C>T (n.1-12125C>T)
c.6406C>T (p.Gln2136Ter)
c.6952C>T (p.Gln2318Ter)
c.6769C>T (p.Gln2257Ter)
c.6490C>T (p.Gln2164Ter)
c.5533C>T (p.Gln1845Ter)
c.5524C>T (p.Gln1842Ter)
 ClinVar dbSNP
5g.37052454A>CCA359511457NIPBLc.7151A>C (p.Gln2384Pro)
n.1033A>C
c.1-12124A>C (n.1-12124A>C)
c.6407A>C (p.Gln2136Pro)
c.6953A>C (p.Gln2318Pro)
c.6770A>C (p.Gln2257Pro)
c.6491A>C (p.Gln2164Pro)
c.5534A>C (p.Gln1845Pro)
c.5525A>C (p.Gln1842Pro)
5g.37052454A>GCA359511458NIPBLc.7151A>G (p.Gln2384Arg)
n.1033A>G
c.1-12124A>G (n.1-12124A>G)
c.6407A>G (p.Gln2136Arg)
c.6953A>G (p.Gln2318Arg)
c.6770A>G (p.Gln2257Arg)
c.6491A>G (p.Gln2164Arg)
c.5534A>G (p.Gln1845Arg)
c.5525A>G (p.Gln1842Arg)
5g.37052454A>TCA359511460NIPBLc.7151A>T (p.Gln2384Leu)
n.1033A>T
c.1-12124A>T (n.1-12124A>T)
c.6407A>T (p.Gln2136Leu)
c.6953A>T (p.Gln2318Leu)
c.6770A>T (p.Gln2257Leu)
c.6491A>T (p.Gln2164Leu)
c.5534A>T (p.Gln1845Leu)
c.5525A>T (p.Gln1842Leu)
5g.37052455A=CA1539572249NIPBLc.7152A= (p.Gln2384=)
n.1034A=
c.1-12123A= (n.1-12123A=)
c.6408A= (p.Gln2136=)
c.6954A= (p.Gln2318=)
c.6771A= (p.Gln2257=)
c.6492A= (p.Gln2164=)
c.5535A= (p.Gln1845=)
c.5526A= (p.Gln1842=)
5g.37052455A>CCA359511462NIPBLc.7152A>C (p.Gln2384His)
n.1034A>C
c.1-12123A>C (n.1-12123A>C)
c.6408A>C (p.Gln2136His)
c.6954A>C (p.Gln2318His)
c.6771A>C (p.Gln2257His)
c.6492A>C (p.Gln2164His)
c.5535A>C (p.Gln1845His)
c.5526A>C (p.Gln1842His)
5g.37052455A>GCA443911690NIPBLc.7152A>G (p.Gln2384=)
n.1034A>G
c.1-12123A>G (n.1-12123A>G)
c.6408A>G (p.Gln2136=)
c.6954A>G (p.Gln2318=)
c.6771A>G (p.Gln2257=)
c.6492A>G (p.Gln2164=)
c.5535A>G (p.Gln1845=)
c.5526A>G (p.Gln1842=)
 dbSNP gnomAD v2
5g.37052455A>TCA359511463NIPBLc.7152A>T (p.Gln2384His)
n.1034A>T
c.1-12123A>T (n.1-12123A>T)
c.6408A>T (p.Gln2136His)
c.6954A>T (p.Gln2318His)
c.6771A>T (p.Gln2257His)
c.6492A>T (p.Gln2164His)
c.5535A>T (p.Gln1845His)
c.5526A>T (p.Gln1842His)
5g.37052456G>ACA359511465NIPBLc.7153G>A (p.Asp2385Asn)
n.1035G>A
c.1-12122G>A (n.1-12122G>A)
c.6409G>A (p.Asp2137Asn)
c.6955G>A (p.Asp2319Asn)
c.6772G>A (p.Asp2258Asn)
c.6493G>A (p.Asp2165Asn)
c.5536G>A (p.Asp1846Asn)
c.5527G>A (p.Asp1843Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.37052456G>CCA359511468NIPBLc.7153G>C (p.Asp2385His)
n.1035G>C
c.1-12122G>C (n.1-12122G>C)
c.6409G>C (p.Asp2137His)
c.6955G>C (p.Asp2319His)
c.6772G>C (p.Asp2258His)
c.6493G>C (p.Asp2165His)
c.5536G>C (p.Asp1846His)
c.5527G>C (p.Asp1843His)
5g.37052456G=CA1539572252NIPBLc.7153G= (p.Asp2385=)
n.1035G=
c.1-12122G= (n.1-12122G=)
c.6409G= (p.Asp2137=)
c.6955G= (p.Asp2319=)
c.6772G= (p.Asp2258=)
c.6493G= (p.Asp2165=)
c.5536G= (p.Asp1846=)
c.5527G= (p.Asp1843=)
5g.37052456G>TCA359511470NIPBLc.7153G>T (p.Asp2385Tyr)
n.1035G>T
c.1-12122G>T (n.1-12122G>T)
c.6409G>T (p.Asp2137Tyr)
c.6955G>T (p.Asp2319Tyr)
c.6772G>T (p.Asp2258Tyr)
c.6493G>T (p.Asp2165Tyr)
c.5536G>T (p.Asp1846Tyr)
c.5527G>T (p.Asp1843Tyr)
 gnomAD v4
5g.37052457A>CCA359511477NIPBLc.7154A>C (p.Asp2385Ala)
n.1036A>C
c.1-12121A>C (n.1-12121A>C)
c.6410A>C (p.Asp2137Ala)
c.6956A>C (p.Asp2319Ala)
c.6773A>C (p.Asp2258Ala)
c.6494A>C (p.Asp2165Ala)
c.5537A>C (p.Asp1846Ala)
c.5528A>C (p.Asp1843Ala)
5g.37052457A>GCA359511476NIPBLc.7154A>G (p.Asp2385Gly)
n.1036A>G
c.1-12121A>G (n.1-12121A>G)
c.6410A>G (p.Asp2137Gly)
c.6956A>G (p.Asp2319Gly)
c.6773A>G (p.Asp2258Gly)
c.6494A>G (p.Asp2165Gly)
c.5537A>G (p.Asp1846Gly)
c.5528A>G (p.Asp1843Gly)
 gnomAD v4
5g.37052457A>TCA359511473NIPBLc.7154A>T (p.Asp2385Val)
n.1036A>T
c.1-12121A>T (n.1-12121A>T)
c.6410A>T (p.Asp2137Val)
c.6956A>T (p.Asp2319Val)
c.6773A>T (p.Asp2258Val)
c.6494A>T (p.Asp2165Val)
c.5537A>T (p.Asp1846Val)
c.5528A>T (p.Asp1843Val)
5g.37052458C>ACA359511479NIPBLc.7155C>A (p.Asp2385Glu)
n.1037C>A
c.1-12120C>A (n.1-12120C>A)
c.6411C>A (p.Asp2137Glu)
c.6957C>A (p.Asp2319Glu)
c.6774C>A (p.Asp2258Glu)
c.6495C>A (p.Asp2165Glu)
c.5538C>A (p.Asp1846Glu)
c.5529C>A (p.Asp1843Glu)
5g.37052458C=CA1539572257NIPBLc.7155C= (p.Asp2385=)
n.1037C=
c.1-12120C= (n.1-12120C=)
c.6411C= (p.Asp2137=)
c.6957C= (p.Asp2319=)
c.6774C= (p.Asp2258=)
c.6495C= (p.Asp2165=)
c.5538C= (p.Asp1846=)
c.5529C= (p.Asp1843=)
5g.37052458C>GCA359511480NIPBLc.7155C>G (p.Asp2385Glu)
n.1037C>G
c.1-12120C>G (n.1-12120C>G)
c.6411C>G (p.Asp2137Glu)
c.6957C>G (p.Asp2319Glu)
c.6774C>G (p.Asp2258Glu)
c.6495C>G (p.Asp2165Glu)
c.5538C>G (p.Asp1846Glu)
c.5529C>G (p.Asp1843Glu)
5g.37052458C>TCA3237148NIPBLc.7155C>T (p.Asp2385=)
n.1037C>T
c.1-12120C>T (n.1-12120C>T)
c.6411C>T (p.Asp2137=)
c.6957C>T (p.Asp2319=)
c.6774C>T (p.Asp2258=)
c.6495C>T (p.Asp2165=)
c.5538C>T (p.Asp1846=)
c.5529C>T (p.Asp1843=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052459G>ACA359511485NIPBLc.7156G>A (p.Glu2386Lys)
n.1038G>A
c.1-12119G>A (n.1-12119G>A)
c.6412G>A (p.Glu2138Lys)
c.6958G>A (p.Glu2320Lys)
c.6775G>A (p.Glu2259Lys)
c.6496G>A (p.Glu2166Lys)
c.5539G>A (p.Glu1847Lys)
c.5530G>A (p.Glu1844Lys)
 gnomAD v4 COSMIC COSMIC
5g.37052459G>CCA359511487NIPBLc.7156G>C (p.Glu2386Gln)
n.1038G>C
c.1-12119G>C (n.1-12119G>C)
c.6412G>C (p.Glu2138Gln)
c.6958G>C (p.Glu2320Gln)
c.6775G>C (p.Glu2259Gln)
c.6496G>C (p.Glu2166Gln)
c.5539G>C (p.Glu1847Gln)
c.5530G>C (p.Glu1844Gln)
5g.37052459G>TCA359511488NIPBLc.7156G>T (p.Glu2386Ter)
n.1038G>T
c.1-12119G>T (n.1-12119G>T)
c.6412G>T (p.Glu2138Ter)
c.6958G>T (p.Glu2320Ter)
c.6775G>T (p.Glu2259Ter)
c.6496G>T (p.Glu2166Ter)
c.5539G>T (p.Glu1847Ter)
c.5530G>T (p.Glu1844Ter)
5g.37052460A>CCA359511491NIPBLc.7157A>C (p.Glu2386Ala)
n.1039A>C
c.1-12118A>C (n.1-12118A>C)
c.6413A>C (p.Glu2138Ala)
c.6959A>C (p.Glu2320Ala)
c.6776A>C (p.Glu2259Ala)
c.6497A>C (p.Glu2166Ala)
c.5540A>C (p.Glu1847Ala)
c.5531A>C (p.Glu1844Ala)
5g.37052460A>GCA359511492NIPBLc.7157A>G (p.Glu2386Gly)
n.1039A>G
c.1-12118A>G (n.1-12118A>G)
c.6413A>G (p.Glu2138Gly)
c.6959A>G (p.Glu2320Gly)
c.6776A>G (p.Glu2259Gly)
c.6497A>G (p.Glu2166Gly)
c.5540A>G (p.Glu1847Gly)
c.5531A>G (p.Glu1844Gly)
5g.37052460A>TCA359511495NIPBLc.7157A>T (p.Glu2386Val)
n.1039A>T
c.1-12118A>T (n.1-12118A>T)
c.6413A>T (p.Glu2138Val)
c.6959A>T (p.Glu2320Val)
c.6776A>T (p.Glu2259Val)
c.6497A>T (p.Glu2166Val)
c.5540A>T (p.Glu1847Val)
c.5531A>T (p.Glu1844Val)
5g.37052461G>ACA443911714NIPBLc.7158G>A (p.Glu2386=)
n.1040G>A
c.1-12117G>A (n.1-12117G>A)
c.6414G>A (p.Glu2138=)
c.6960G>A (p.Glu2320=)
c.6777G>A (p.Glu2259=)
c.6498G>A (p.Glu2166=)
c.5541G>A (p.Glu1847=)
c.5532G>A (p.Glu1844=)
 gnomAD v4
5g.37052461G>CCA359511498NIPBLc.7158G>C (p.Glu2386Asp)
n.1040G>C
c.1-12117G>C (n.1-12117G>C)
c.6414G>C (p.Glu2138Asp)
c.6960G>C (p.Glu2320Asp)
c.6777G>C (p.Glu2259Asp)
c.6498G>C (p.Glu2166Asp)
c.5541G>C (p.Glu1847Asp)
c.5532G>C (p.Glu1844Asp)
 gnomAD v4
5g.37052461G>TCA359511501NIPBLc.7158G>T (p.Glu2386Asp)
n.1040G>T
c.1-12117G>T (n.1-12117G>T)
c.6414G>T (p.Glu2138Asp)
c.6960G>T (p.Glu2320Asp)
c.6777G>T (p.Glu2259Asp)
c.6498G>T (p.Glu2166Asp)
c.5541G>T (p.Glu1847Asp)
c.5532G>T (p.Glu1844Asp)
5g.37052462T>ACA359511505NIPBLc.7159T>A (p.Ser2387Thr)
n.1041T>A
c.1-12116T>A (n.1-12116T>A)
c.6415T>A (p.Ser2139Thr)
c.6961T>A (p.Ser2321Thr)
c.6778T>A (p.Ser2260Thr)
c.6499T>A (p.Ser2167Thr)
c.5542T>A (p.Ser1848Thr)
c.5533T>A (p.Ser1845Thr)
5g.37052462T>CCA359511503NIPBLc.7159T>C (p.Ser2387Pro)
n.1041T>C
c.1-12116T>C (n.1-12116T>C)
c.6415T>C (p.Ser2139Pro)
c.6961T>C (p.Ser2321Pro)
c.6778T>C (p.Ser2260Pro)
c.6499T>C (p.Ser2167Pro)
c.5542T>C (p.Ser1848Pro)
c.5533T>C (p.Ser1845Pro)
5g.37052462T>GCA359511502NIPBLc.7159T>G (p.Ser2387Ala)
n.1041T>G
c.1-12116T>G (n.1-12116T>G)
c.6415T>G (p.Ser2139Ala)
c.6961T>G (p.Ser2321Ala)
c.6778T>G (p.Ser2260Ala)
c.6499T>G (p.Ser2167Ala)
c.5542T>G (p.Ser1848Ala)
c.5533T>G (p.Ser1845Ala)
 dbSNP
5g.37052462T=CA1539572263NIPBLc.7159T= (p.Ser2387=)
n.1041T=
c.1-12116T= (n.1-12116T=)
c.6415T= (p.Ser2139=)
c.6961T= (p.Ser2321=)
c.6778T= (p.Ser2260=)
c.6499T= (p.Ser2167=)
c.5542T= (p.Ser1848=)
c.5533T= (p.Ser1845=)
5g.37052463C>ACA359511507NIPBLc.7160C>A (p.Ser2387Tyr)
n.1042C>A
c.1-12115C>A (n.1-12115C>A)
c.6416C>A (p.Ser2139Tyr)
c.6962C>A (p.Ser2321Tyr)
c.6779C>A (p.Ser2260Tyr)
c.6500C>A (p.Ser2167Tyr)
c.5543C>A (p.Ser1848Tyr)
c.5534C>A (p.Ser1845Tyr)
5g.37052463C>GCA359511508NIPBLc.7160C>G (p.Ser2387Cys)
n.1042C>G
c.1-12115C>G (n.1-12115C>G)
c.6416C>G (p.Ser2139Cys)
c.6962C>G (p.Ser2321Cys)
c.6779C>G (p.Ser2260Cys)
c.6500C>G (p.Ser2167Cys)
c.5543C>G (p.Ser1848Cys)
c.5534C>G (p.Ser1845Cys)
5g.37052463C>TCA359511510NIPBLc.7160C>T (p.Ser2387Phe)
n.1042C>T
c.1-12115C>T (n.1-12115C>T)
c.6416C>T (p.Ser2139Phe)
c.6962C>T (p.Ser2321Phe)
c.6779C>T (p.Ser2260Phe)
c.6500C>T (p.Ser2167Phe)
c.5543C>T (p.Ser1848Phe)
c.5534C>T (p.Ser1845Phe)
5g.37052464C>ACA443911729NIPBLc.7161C>A (p.Ser2387=)
n.1043C>A
c.1-12114C>A (n.1-12114C>A)
c.6417C>A (p.Ser2139=)
c.6963C>A (p.Ser2321=)
c.6780C>A (p.Ser2260=)
c.6501C>A (p.Ser2167=)
c.5544C>A (p.Ser1848=)
c.5535C>A (p.Ser1845=)
5g.37052464C=CA1539572268NIPBLc.7161C= (p.Ser2387=)
n.1043C=
c.1-12114C= (n.1-12114C=)
c.6417C= (p.Ser2139=)
c.6963C= (p.Ser2321=)
c.6780C= (p.Ser2260=)
c.6501C= (p.Ser2167=)
c.5544C= (p.Ser1848=)
c.5535C= (p.Ser1845=)
5g.37052464C>GCA443911731NIPBLc.7161C>G (p.Ser2387=)
n.1043C>G
c.1-12114C>G (n.1-12114C>G)
c.6417C>G (p.Ser2139=)
c.6963C>G (p.Ser2321=)
c.6780C>G (p.Ser2260=)
c.6501C>G (p.Ser2167=)
c.5544C>G (p.Ser1848=)
c.5535C>G (p.Ser1845=)
 gnomAD v4
5g.37052464C>TCA443911733NIPBLc.7161C>T (p.Ser2387=)
n.1043C>T
c.1-12114C>T (n.1-12114C>T)
c.6417C>T (p.Ser2139=)
c.6963C>T (p.Ser2321=)
c.6780C>T (p.Ser2260=)
c.6501C>T (p.Ser2167=)
c.5544C>T (p.Ser1848=)
c.5535C>T (p.Ser1845=)
 dbSNP
5g.37052465T>ACA359511511NIPBLc.7162T>A (p.Ser2388Thr)
n.1044T>A
c.1-12113T>A (n.1-12113T>A)
c.6418T>A (p.Ser2140Thr)
c.6964T>A (p.Ser2322Thr)
c.6781T>A (p.Ser2261Thr)
c.6502T>A (p.Ser2168Thr)
c.5545T>A (p.Ser1849Thr)
c.5536T>A (p.Ser1846Thr)
5g.37052465T>CCA359511514NIPBLc.7162T>C (p.Ser2388Pro)
n.1044T>C
c.1-12113T>C (n.1-12113T>C)
c.6418T>C (p.Ser2140Pro)
c.6964T>C (p.Ser2322Pro)
c.6781T>C (p.Ser2261Pro)
c.6502T>C (p.Ser2168Pro)
c.5545T>C (p.Ser1849Pro)
c.5536T>C (p.Ser1846Pro)
5g.37052465T>GCA359511515NIPBLc.7162T>G (p.Ser2388Ala)
n.1044T>G
c.1-12113T>G (n.1-12113T>G)
c.6418T>G (p.Ser2140Ala)
c.6964T>G (p.Ser2322Ala)
c.6781T>G (p.Ser2261Ala)
c.6502T>G (p.Ser2168Ala)
c.5545T>G (p.Ser1849Ala)
c.5536T>G (p.Ser1846Ala)
5g.37052466C>ACA359511520NIPBLc.7163C>A (p.Ser2388Tyr)
n.1045C>A
c.1-12112C>A (n.1-12112C>A)
c.6419C>A (p.Ser2140Tyr)
c.6965C>A (p.Ser2322Tyr)
c.6782C>A (p.Ser2261Tyr)
c.6503C>A (p.Ser2168Tyr)
c.5546C>A (p.Ser1849Tyr)
c.5537C>A (p.Ser1846Tyr)
5g.37052466C=CA1539572274NIPBLc.7163C= (p.Ser2388=)
n.1045C=
c.1-12112C= (n.1-12112C=)
c.6419C= (p.Ser2140=)
c.6965C= (p.Ser2322=)
c.6782C= (p.Ser2261=)
c.6503C= (p.Ser2168=)
c.5546C= (p.Ser1849=)
c.5537C= (p.Ser1846=)
5g.37052466C>GCA359511517NIPBLc.7163C>G (p.Ser2388Cys)
n.1045C>G
c.1-12112C>G (n.1-12112C>G)
c.6419C>G (p.Ser2140Cys)
c.6965C>G (p.Ser2322Cys)
c.6782C>G (p.Ser2261Cys)
c.6503C>G (p.Ser2168Cys)
c.5546C>G (p.Ser1849Cys)
c.5537C>G (p.Ser1846Cys)
 dbSNP gnomAD v4
5g.37052466C>TCA359511518NIPBLc.7163C>T (p.Ser2388Phe)
n.1045C>T
c.1-12112C>T (n.1-12112C>T)
c.6419C>T (p.Ser2140Phe)
c.6965C>T (p.Ser2322Phe)
c.6782C>T (p.Ser2261Phe)
c.6503C>T (p.Ser2168Phe)
c.5546C>T (p.Ser1849Phe)
c.5537C>T (p.Ser1846Phe)
5g.37052467T>ACA3237150NIPBLc.7164T>A (p.Ser2388=)
n.1046T>A
c.1-12111T>A (n.1-12111T>A)
c.6420T>A (p.Ser2140=)
c.6966T>A (p.Ser2322=)
c.6783T>A (p.Ser2261=)
c.6504T>A (p.Ser2168=)
c.5547T>A (p.Ser1849=)
c.5538T>A (p.Ser1846=)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.37052467T>CCA3237149NIPBLc.7164T>C (p.Ser2388=)
n.1046T>C
c.1-12111T>C (n.1-12111T>C)
c.6420T>C (p.Ser2140=)
c.6966T>C (p.Ser2322=)
c.6783T>C (p.Ser2261=)
c.6504T>C (p.Ser2168=)
c.5547T>C (p.Ser1849=)
c.5538T>C (p.Ser1846=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052467T>GCA443911748NIPBLc.7164T>G (p.Ser2388=)
n.1046T>G
c.1-12111T>G (n.1-12111T>G)
c.6420T>G (p.Ser2140=)
c.6966T>G (p.Ser2322=)
c.6783T>G (p.Ser2261=)
c.6504T>G (p.Ser2168=)
c.5547T>G (p.Ser1849=)
c.5538T>G (p.Ser1846=)
5g.37052467T=CA1539572281NIPBLc.7164T= (p.Ser2388=)
n.1046T=
c.1-12111T= (n.1-12111T=)
c.6420T= (p.Ser2140=)
c.6966T= (p.Ser2322=)
c.6783T= (p.Ser2261=)
c.6504T= (p.Ser2168=)
c.5547T= (p.Ser1849=)
c.5538T= (p.Ser1846=)
5g.37052468A=CA1539572287NIPBLc.7165A= (p.Ser2389=)
n.1047A=
c.1-12110A= (n.1-12110A=)
c.6421A= (p.Ser2141=)
c.6967A= (p.Ser2323=)
c.6784A= (p.Ser2262=)
c.6505A= (p.Ser2169=)
c.5548A= (p.Ser1850=)
c.5539A= (p.Ser1847=)
5g.37052468A>CCA359511526NIPBLc.7165A>C (p.Ser2389Arg)
n.1047A>C
c.1-12110A>C (n.1-12110A>C)
c.6421A>C (p.Ser2141Arg)
c.6967A>C (p.Ser2323Arg)
c.6784A>C (p.Ser2262Arg)
c.6505A>C (p.Ser2169Arg)
c.5548A>C (p.Ser1850Arg)
c.5539A>C (p.Ser1847Arg)
5g.37052468A>GCA359511529NIPBLc.7165A>G (p.Ser2389Gly)
n.1047A>G
c.1-12110A>G (n.1-12110A>G)
c.6421A>G (p.Ser2141Gly)
c.6967A>G (p.Ser2323Gly)
c.6784A>G (p.Ser2262Gly)
c.6505A>G (p.Ser2169Gly)
c.5548A>G (p.Ser1850Gly)
c.5539A>G (p.Ser1847Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.37052468A>TCA359511532NIPBLc.7165A>T (p.Ser2389Cys)
n.1047A>T
c.1-12110A>T (n.1-12110A>T)
c.6421A>T (p.Ser2141Cys)
c.6967A>T (p.Ser2323Cys)
c.6784A>T (p.Ser2262Cys)
c.6505A>T (p.Ser2169Cys)
c.5548A>T (p.Ser1850Cys)
c.5539A>T (p.Ser1847Cys)
5g.37052469G>ACA359511534NIPBLc.7166G>A (p.Ser2389Asn)
n.1048G>A
c.1-12109G>A (n.1-12109G>A)
c.6422G>A (p.Ser2141Asn)
c.6968G>A (p.Ser2323Asn)
c.6785G>A (p.Ser2262Asn)
c.6506G>A (p.Ser2169Asn)
c.5549G>A (p.Ser1850Asn)
c.5540G>A (p.Ser1847Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.37052469G>CCA359511539NIPBLc.7166G>C (p.Ser2389Thr)
n.1048G>C
c.1-12109G>C (n.1-12109G>C)
c.6422G>C (p.Ser2141Thr)
c.6968G>C (p.Ser2323Thr)
c.6785G>C (p.Ser2262Thr)
c.6506G>C (p.Ser2169Thr)
c.5549G>C (p.Ser1850Thr)
c.5540G>C (p.Ser1847Thr)
5g.37052469G=CA1539572290NIPBLc.7166G= (p.Ser2389=)
n.1048G=
c.1-12109G= (n.1-12109G=)
c.6422G= (p.Ser2141=)
c.6968G= (p.Ser2323=)
c.6785G= (p.Ser2262=)
c.6506G= (p.Ser2169=)
c.5549G= (p.Ser1850=)
c.5540G= (p.Ser1847=)
5g.37052469G>TCA3237151NIPBLc.7166G>T (p.Ser2389Ile)
n.1048G>T
c.1-12109G>T (n.1-12109G>T)
c.6422G>T (p.Ser2141Ile)
c.6968G>T (p.Ser2323Ile)
c.6785G>T (p.Ser2262Ile)
c.6506G>T (p.Ser2169Ile)
c.5549G>T (p.Ser1850Ile)
c.5540G>T (p.Ser1847Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37052470C>ACA359511544NIPBLc.7167C>A (p.Ser2389Arg)
n.1049C>A
c.1-12108C>A (n.1-12108C>A)
c.6423C>A (p.Ser2141Arg)
c.6969C>A (p.Ser2323Arg)
c.6786C>A (p.Ser2262Arg)
c.6507C>A (p.Ser2169Arg)
c.5550C>A (p.Ser1850Arg)
c.5541C>A (p.Ser1847Arg)
5g.37052470C=CA1539572292NIPBLc.7167C= (p.Ser2389=)
n.1049C=
c.1-12108C= (n.1-12108C=)
c.6423C= (p.Ser2141=)
c.6969C= (p.Ser2323=)
c.6786C= (p.Ser2262=)
c.6507C= (p.Ser2169=)
c.5550C= (p.Ser1850=)
c.5541C= (p.Ser1847=)
5g.37052470C>GCA359511546NIPBLc.7167C>G (p.Ser2389Arg)
n.1049C>G
c.1-12108C>G (n.1-12108C>G)
c.6423C>G (p.Ser2141Arg)
c.6969C>G (p.Ser2323Arg)
c.6786C>G (p.Ser2262Arg)
c.6507C>G (p.Ser2169Arg)
c.5550C>G (p.Ser1850Arg)
c.5541C>G (p.Ser1847Arg)
5g.37052470C>TCA443911760NIPBLc.7167C>T (p.Ser2389=)
n.1049C>T
c.1-12108C>T (n.1-12108C>T)
c.6423C>T (p.Ser2141=)
c.6969C>T (p.Ser2323=)
c.6786C>T (p.Ser2262=)
c.6507C>T (p.Ser2169=)
c.5550C>T (p.Ser1850=)
c.5541C>T (p.Ser1847=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37052471G>ACA272292NIPBLc.7168G>A (p.Ala2390Thr)
n.1050G>A
c.1-12107G>A (n.1-12107G>A)
c.6424G>A (p.Ala2142Thr)
c.6970G>A (p.Ala2324Thr)
c.6787G>A (p.Ala2263Thr)
c.6508G>A (p.Ala2170Thr)
c.5551G>A (p.Ala1851Thr)
c.5542G>A (p.Ala1848Thr)
 ClinVar dbSNP COSMIC COSMIC
5g.37052471G>CCA359511551NIPBLc.7168G>C (p.Ala2390Pro)
n.1050G>C
c.1-12107G>C (n.1-12107G>C)
c.6424G>C (p.Ala2142Pro)
c.6970G>C (p.Ala2324Pro)
c.6787G>C (p.Ala2263Pro)
c.6508G>C (p.Ala2170Pro)
c.5551G>C (p.Ala1851Pro)
c.5542G>C (p.Ala1848Pro)
5g.37052471G=CA1539572303NIPBLc.7168G= (p.Ala2390=)
n.1050G=
c.1-12107G= (n.1-12107G=)
c.6424G= (p.Ala2142=)
c.6970G= (p.Ala2324=)
c.6787G= (p.Ala2263=)
c.6508G= (p.Ala2170=)
c.5551G= (p.Ala1851=)
c.5542G= (p.Ala1848=)
5g.37052471G>TCA359511555NIPBLc.7168G>T (p.Ala2390Ser)
n.1050G>T
c.1-12107G>T (n.1-12107G>T)
c.6424G>T (p.Ala2142Ser)
c.6970G>T (p.Ala2324Ser)
c.6787G>T (p.Ala2263Ser)
c.6508G>T (p.Ala2170Ser)
c.5551G>T (p.Ala1851Ser)
c.5542G>T (p.Ala1848Ser)
 ClinVar COSMIC COSMIC
5g.37052472C>ACA359511558NIPBLc.7169C>A (p.Ala2390Asp)
n.1051C>A
c.1-12106C>A (n.1-12106C>A)
c.6425C>A (p.Ala2142Asp)
c.6971C>A (p.Ala2324Asp)
c.6788C>A (p.Ala2263Asp)
c.6509C>A (p.Ala2170Asp)
c.5552C>A (p.Ala1851Asp)
c.5543C>A (p.Ala1848Asp)
5g.37052472C>GCA359511561NIPBLc.7169C>G (p.Ala2390Gly)
n.1051C>G
c.1-12106C>G (n.1-12106C>G)
c.6425C>G (p.Ala2142Gly)
c.6971C>G (p.Ala2324Gly)
c.6788C>G (p.Ala2263Gly)
c.6509C>G (p.Ala2170Gly)
c.5552C>G (p.Ala1851Gly)
c.5543C>G (p.Ala1848Gly)
5g.37052472C>TCA359511567NIPBLc.7169C>T (p.Ala2390Val)
n.1051C>T
c.1-12106C>T (n.1-12106C>T)
c.6425C>T (p.Ala2142Val)
c.6971C>T (p.Ala2324Val)
c.6788C>T (p.Ala2263Val)
c.6509C>T (p.Ala2170Val)
c.5552C>T (p.Ala1851Val)
c.5543C>T (p.Ala1848Val)
 ClinVar
5g.37052473T>ACA443911777NIPBLc.7170T>A (p.Ala2390=)
n.1052T>A
c.1-12105T>A (n.1-12105T>A)
c.6426T>A (p.Ala2142=)
c.6972T>A (p.Ala2324=)
c.6789T>A (p.Ala2263=)
c.6510T>A (p.Ala2170=)
c.5553T>A (p.Ala1851=)
c.5544T>A (p.Ala1848=)
5g.37052473T>CCA443911773NIPBLc.7170T>C (p.Ala2390=)
n.1052T>C
c.1-12105T>C (n.1-12105T>C)
c.6426T>C (p.Ala2142=)
c.6972T>C (p.Ala2324=)
c.6789T>C (p.Ala2263=)
c.6510T>C (p.Ala2170=)
c.5553T>C (p.Ala1851=)
c.5544T>C (p.Ala1848=)
5g.37052473T>GCA443911775NIPBLc.7170T>G (p.Ala2390=)
n.1052T>G
c.1-12105T>G (n.1-12105T>G)
c.6426T>G (p.Ala2142=)
c.6972T>G (p.Ala2324=)
c.6789T>G (p.Ala2263=)
c.6510T>G (p.Ala2170=)
c.5553T>G (p.Ala1851=)
c.5544T>G (p.Ala1848=)

Number of alleles fetched