Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37045477G>ACA443906705NIPBLc.6378G>A (p.Glu2126=)
c.1-19101G>A (p.=)
c.5634G>A (p.Glu1878=)
c.6180G>A (p.Glu2060=)
c.5997G>A (p.Glu1999=)
c.5718G>A (p.Glu1906=)
c.4761G>A (p.Glu1587=)
c.4752G>A (p.Glu1584=)
5g.37045477G>CCA359504172NIPBLc.6378G>C (p.Glu2126Asp)
c.1-19101G>C (p.=)
c.5634G>C (p.Glu1878Asp)
c.6180G>C (p.Glu2060Asp)
c.5997G>C (p.Glu1999Asp)
c.5718G>C (p.Glu1906Asp)
c.4761G>C (p.Glu1587Asp)
c.4752G>C (p.Glu1584Asp)
5g.37045477G=CA1539618483NIPBLc.6378G= (p.Glu2126=)
c.1-19101G= (p.=)
c.5634G= (p.Glu1878=)
c.6180G= (p.Glu2060=)
c.5997G= (p.Glu1999=)
c.5718G= (p.Glu1906=)
c.4761G= (p.Glu1587=)
c.4752G= (p.Glu1584=)
5g.37045477G>TCA359504175NIPBLc.6378G>T (p.Glu2126Asp)
c.1-19101G>T (p.=)
c.5634G>T (p.Glu1878Asp)
c.6180G>T (p.Glu2060Asp)
c.5997G>T (p.Glu1999Asp)
c.5718G>T (p.Glu1906Asp)
c.4761G>T (p.Glu1587Asp)
c.4752G>T (p.Glu1584Asp)
5g.37045478G>ACA359504177NIPBLc.6379G>A (p.Asp2127Asn)
c.1-19100G>A (p.=)
c.5635G>A (p.Asp1879Asn)
c.6181G>A (p.Asp2061Asn)
c.5998G>A (p.Asp2000Asn)
c.5719G>A (p.Asp1907Asn)
c.4762G>A (p.Asp1588Asn)
c.4753G>A (p.Asp1585Asn)
5g.37045478G>CCA359504180NIPBLc.6379G>C (p.Asp2127His)
c.1-19100G>C (p.=)
c.5635G>C (p.Asp1879His)
c.6181G>C (p.Asp2061His)
c.5998G>C (p.Asp2000His)
c.5719G>C (p.Asp1907His)
c.4762G>C (p.Asp1588His)
c.4753G>C (p.Asp1585His)
5g.37045478G>TCA359504182NIPBLc.6379G>T (p.Asp2127Tyr)
c.1-19100G>T (p.=)
c.5635G>T (p.Asp1879Tyr)
c.6181G>T (p.Asp2061Tyr)
c.5998G>T (p.Asp2000Tyr)
c.5719G>T (p.Asp1907Tyr)
c.4762G>T (p.Asp1588Tyr)
c.4753G>T (p.Asp1585Tyr)
5g.37045479A>CCA359504190NIPBLc.6380A>C (p.Asp2127Ala)
c.1-19099A>C (p.=)
c.5636A>C (p.Asp1879Ala)
c.6182A>C (p.Asp2061Ala)
c.5999A>C (p.Asp2000Ala)
c.5720A>C (p.Asp1907Ala)
c.4763A>C (p.Asp1588Ala)
c.4754A>C (p.Asp1585Ala)
5g.37045479A>GCA359504184NIPBLc.6380A>G (p.Asp2127Gly)
c.1-19099A>G (p.=)
c.5636A>G (p.Asp1879Gly)
c.6182A>G (p.Asp2061Gly)
c.5999A>G (p.Asp2000Gly)
c.5720A>G (p.Asp1907Gly)
c.4763A>G (p.Asp1588Gly)
c.4754A>G (p.Asp1585Gly)
5g.37045479A>TCA359504188NIPBLc.6380A>T (p.Asp2127Val)
c.1-19099A>T (p.=)
c.5636A>T (p.Asp1879Val)
c.6182A>T (p.Asp2061Val)
c.5999A>T (p.Asp2000Val)
c.5720A>T (p.Asp1907Val)
c.4763A>T (p.Asp1588Val)
c.4754A>T (p.Asp1585Val)
5g.37045480C>ACA359504193NIPBLc.6381C>A (p.Asp2127Glu)
c.1-19098C>A (p.=)
c.5637C>A (p.Asp1879Glu)
c.6183C>A (p.Asp2061Glu)
c.6000C>A (p.Asp2000Glu)
c.5721C>A (p.Asp1907Glu)
c.4764C>A (p.Asp1588Glu)
c.4755C>A (p.Asp1585Glu)
5g.37045480C>GCA359504197NIPBLc.6381C>G (p.Asp2127Glu)
c.1-19098C>G (p.=)
c.5637C>G (p.Asp1879Glu)
c.6183C>G (p.Asp2061Glu)
c.6000C>G (p.Asp2000Glu)
c.5721C>G (p.Asp1907Glu)
c.4764C>G (p.Asp1588Glu)
c.4755C>G (p.Asp1585Glu)
5g.37045480C>TCA443906721NIPBLc.6381C>T (p.Asp2127=)
c.1-19098C>T (p.=)
c.5637C>T (p.Asp1879=)
c.6183C>T (p.Asp2061=)
c.6000C>T (p.Asp2000=)
c.5721C>T (p.Asp1907=)
c.4764C>T (p.Asp1588=)
c.4755C>T (p.Asp1585=)
5g.37045481C>ACA359504200NIPBLc.6382C>A (p.Pro2128Thr)
c.1-19097C>A (p.=)
c.5638C>A (p.Pro1880Thr)
c.6184C>A (p.Pro2062Thr)
c.6001C>A (p.Pro2001Thr)
c.5722C>A (p.Pro1908Thr)
c.4765C>A (p.Pro1589Thr)
c.4756C>A (p.Pro1586Thr)
5g.37045481C>GCA359504202NIPBLc.6382C>G (p.Pro2128Ala)
c.1-19097C>G (p.=)
c.5638C>G (p.Pro1880Ala)
c.6184C>G (p.Pro2062Ala)
c.6001C>G (p.Pro2001Ala)
c.5722C>G (p.Pro1908Ala)
c.4765C>G (p.Pro1589Ala)
c.4756C>G (p.Pro1586Ala)
5g.37045481C>TCA359504203NIPBLc.6382C>T (p.Pro2128Ser)
c.1-19097C>T (p.=)
c.5638C>T (p.Pro1880Ser)
c.6184C>T (p.Pro2062Ser)
c.6001C>T (p.Pro2001Ser)
c.5722C>T (p.Pro1908Ser)
c.4765C>T (p.Pro1589Ser)
c.4756C>T (p.Pro1586Ser)
5g.37045482C>ACA359504206NIPBLc.6383C>A (p.Pro2128Gln)
c.1-19096C>A (p.=)
c.5639C>A (p.Pro1880Gln)
c.6185C>A (p.Pro2062Gln)
c.6002C>A (p.Pro2001Gln)
c.5723C>A (p.Pro1908Gln)
c.4766C>A (p.Pro1589Gln)
c.4757C>A (p.Pro1586Gln)
5g.37045482C>GCA359504209NIPBLc.6383C>G (p.Pro2128Arg)
c.1-19096C>G (p.=)
c.5639C>G (p.Pro1880Arg)
c.6185C>G (p.Pro2062Arg)
c.6002C>G (p.Pro2001Arg)
c.5723C>G (p.Pro1908Arg)
c.4766C>G (p.Pro1589Arg)
c.4757C>G (p.Pro1586Arg)
5g.37045482C>TCA359504219NIPBLc.6383C>T (p.Pro2128Leu)
c.1-19096C>T (p.=)
c.5639C>T (p.Pro1880Leu)
c.6185C>T (p.Pro2062Leu)
c.6002C>T (p.Pro2001Leu)
c.5723C>T (p.Pro1908Leu)
c.4766C>T (p.Pro1589Leu)
c.4757C>T (p.Pro1586Leu)
5g.37045483A=CA1539618486NIPBLc.6384A= (p.Pro2128=)
c.1-19095A= (p.=)
c.5640A= (p.Pro1880=)
c.6186A= (p.Pro2062=)
c.6003A= (p.Pro2001=)
c.5724A= (p.Pro1908=)
c.4767A= (p.Pro1589=)
c.4758A= (p.Pro1586=)
5g.37045483A>CCA117046385NIPBLc.6384A>C (p.Pro2128=)
c.1-19095A>C (p.=)
c.5640A>C (p.Pro1880=)
c.6186A>C (p.Pro2062=)
c.6003A>C (p.Pro2001=)
c.5724A>C (p.Pro1908=)
c.4767A>C (p.Pro1589=)
c.4758A>C (p.Pro1586=)
dbSNP
5g.37045483A>GCA443906731NIPBLc.6384A>G (p.Pro2128=)
c.1-19095A>G (p.=)
c.5640A>G (p.Pro1880=)
c.6186A>G (p.Pro2062=)
c.6003A>G (p.Pro2001=)
c.5724A>G (p.Pro1908=)
c.4767A>G (p.Pro1589=)
c.4758A>G (p.Pro1586=)
5g.37045483A>TCA443906734NIPBLc.6384A>T (p.Pro2128=)
c.1-19095A>T (p.=)
c.5640A>T (p.Pro1880=)
c.6186A>T (p.Pro2062=)
c.6003A>T (p.Pro2001=)
c.5724A>T (p.Pro1908=)
c.4767A>T (p.Pro1589=)
c.4758A>T (p.Pro1586=)
5g.37045484A>CCA359504223NIPBLc.6385A>C (p.Asn2129His)
c.1-19094A>C (p.=)
c.5641A>C (p.Asn1881His)
c.6187A>C (p.Asn2063His)
c.6004A>C (p.Asn2002His)
c.5725A>C (p.Asn1909His)
c.4768A>C (p.Asn1590His)
c.4759A>C (p.Asn1587His)
5g.37045484A>GCA359504224NIPBLc.6385A>G (p.Asn2129Asp)
c.1-19094A>G (p.=)
c.5641A>G (p.Asn1881Asp)
c.6187A>G (p.Asn2063Asp)
c.6004A>G (p.Asn2002Asp)
c.5725A>G (p.Asn1909Asp)
c.4768A>G (p.Asn1590Asp)
c.4759A>G (p.Asn1587Asp)
5g.37045484A>TCA359504227NIPBLc.6385A>T (p.Asn2129Tyr)
c.1-19094A>T (p.=)
c.5641A>T (p.Asn1881Tyr)
c.6187A>T (p.Asn2063Tyr)
c.6004A>T (p.Asn2002Tyr)
c.5725A>T (p.Asn1909Tyr)
c.4768A>T (p.Asn1590Tyr)
c.4759A>T (p.Asn1587Tyr)
5g.37045485A=CA1539618489NIPBLc.6386A= (p.Asn2129=)
c.1-19093A= (p.=)
c.5642A= (p.Asn1881=)
c.6188A= (p.Asn2063=)
c.6005A= (p.Asn2002=)
c.5726A= (p.Asn1909=)
c.4769A= (p.Asn1590=)
c.4760A= (p.Asn1587=)
5g.37045485A>CCA359504235NIPBLc.6386A>C (p.Asn2129Thr)
c.1-19093A>C (p.=)
c.5642A>C (p.Asn1881Thr)
c.6188A>C (p.Asn2063Thr)
c.6005A>C (p.Asn2002Thr)
c.5726A>C (p.Asn1909Thr)
c.4769A>C (p.Asn1590Thr)
c.4760A>C (p.Asn1587Thr)
5g.37045485A>GCA359504236NIPBLc.6386A>G (p.Asn2129Ser)
c.1-19093A>G (p.=)
c.5642A>G (p.Asn1881Ser)
c.6188A>G (p.Asn2063Ser)
c.6005A>G (p.Asn2002Ser)
c.5726A>G (p.Asn1909Ser)
c.4769A>G (p.Asn1590Ser)
c.4760A>G (p.Asn1587Ser)
COSMIC COSMIC
5g.37045485A>TCA359504232NIPBLc.6386A>T (p.Asn2129Ile)
c.1-19093A>T (p.=)
c.5642A>T (p.Asn1881Ile)
c.6188A>T (p.Asn2063Ile)
c.6005A>T (p.Asn2002Ile)
c.5726A>T (p.Asn1909Ile)
c.4769A>T (p.Asn1590Ile)
c.4760A>T (p.Asn1587Ile)
5g.37045486T>ACA359504238NIPBLc.6387T>A (p.Asn2129Lys)
c.1-19092T>A (p.=)
c.5643T>A (p.Asn1881Lys)
c.6189T>A (p.Asn2063Lys)
c.6006T>A (p.Asn2002Lys)
c.5727T>A (p.Asn1909Lys)
c.4770T>A (p.Asn1590Lys)
c.4761T>A (p.Asn1587Lys)
5g.37045486T>CCA443906748NIPBLc.6387T>C (p.Asn2129=)
c.1-19092T>C (p.=)
c.5643T>C (p.Asn1881=)
c.6189T>C (p.Asn2063=)
c.6006T>C (p.Asn2002=)
c.5727T>C (p.Asn1909=)
c.4770T>C (p.Asn1590=)
c.4761T>C (p.Asn1587=)
5g.37045486T>GCA359504240NIPBLc.6387T>G (p.Asn2129Lys)
c.1-19092T>G (p.=)
c.5643T>G (p.Asn1881Lys)
c.6189T>G (p.Asn2063Lys)
c.6006T>G (p.Asn2002Lys)
c.5727T>G (p.Asn1909Lys)
c.4770T>G (p.Asn1590Lys)
c.4761T>G (p.Asn1587Lys)
5g.37045487A>CCA359504243NIPBLc.6388A>C (p.Asn2130His)
c.1-19091A>C (p.=)
c.5644A>C (p.Asn1882His)
c.6190A>C (p.Asn2064His)
c.6007A>C (p.Asn2003His)
c.5728A>C (p.Asn1910His)
c.4771A>C (p.Asn1591His)
c.4762A>C (p.Asn1588His)
5g.37045487A>GCA359504246NIPBLc.6388A>G (p.Asn2130Asp)
c.1-19091A>G (p.=)
c.5644A>G (p.Asn1882Asp)
c.6190A>G (p.Asn2064Asp)
c.6007A>G (p.Asn2003Asp)
c.5728A>G (p.Asn1910Asp)
c.4771A>G (p.Asn1591Asp)
c.4762A>G (p.Asn1588Asp)
5g.37045487A>TCA359504249NIPBLc.6388A>T (p.Asn2130Tyr)
c.1-19091A>T (p.=)
c.5644A>T (p.Asn1882Tyr)
c.6190A>T (p.Asn2064Tyr)
c.6007A>T (p.Asn2003Tyr)
c.5728A>T (p.Asn1910Tyr)
c.4771A>T (p.Asn1591Tyr)
c.4762A>T (p.Asn1588Tyr)
5g.37045488A=CA1539618494NIPBLc.6389A= (p.Asn2130=)
c.1-19090A= (p.=)
c.5645A= (p.Asn1882=)
c.6191A= (p.Asn2064=)
c.6008A= (p.Asn2003=)
c.5729A= (p.Asn1910=)
c.4772A= (p.Asn1591=)
c.4763A= (p.Asn1588=)
5g.37045488A>CCA359504257NIPBLc.6389A>C (p.Asn2130Thr)
c.1-19090A>C (p.=)
c.5645A>C (p.Asn1882Thr)
c.6191A>C (p.Asn2064Thr)
c.6008A>C (p.Asn2003Thr)
c.5729A>C (p.Asn1910Thr)
c.4772A>C (p.Asn1591Thr)
c.4763A>C (p.Asn1588Thr)
5g.37045488A>GCA3236996NIPBLc.6389A>G (p.Asn2130Ser)
c.1-19090A>G (p.=)
c.5645A>G (p.Asn1882Ser)
c.6191A>G (p.Asn2064Ser)
c.6008A>G (p.Asn2003Ser)
c.5729A>G (p.Asn1910Ser)
c.4772A>G (p.Asn1591Ser)
c.4763A>G (p.Asn1588Ser)
dbSNP ExAC gnomAD
5g.37045488A>TCA359504253NIPBLc.6389A>T (p.Asn2130Ile)
c.1-19090A>T (p.=)
c.5645A>T (p.Asn1882Ile)
c.6191A>T (p.Asn2064Ile)
c.6008A>T (p.Asn2003Ile)
c.5729A>T (p.Asn1910Ile)
c.4772A>T (p.Asn1591Ile)
c.4763A>T (p.Asn1588Ile)
5g.37045489C>ACA359504260NIPBLc.6390C>A (p.Asn2130Lys)
c.1-19089C>A (p.=)
c.5646C>A (p.Asn1882Lys)
c.6192C>A (p.Asn2064Lys)
c.6009C>A (p.Asn2003Lys)
c.5730C>A (p.Asn1910Lys)
c.4773C>A (p.Asn1591Lys)
c.4764C>A (p.Asn1588Lys)
5g.37045489C=CA1539618498NIPBLc.6390C= (p.Asn2130=)
c.1-19089C= (p.=)
c.5646C= (p.Asn1882=)
c.6192C= (p.Asn2064=)
c.6009C= (p.Asn2003=)
c.5730C= (p.Asn1910=)
c.4773C= (p.Asn1591=)
c.4764C= (p.Asn1588=)
5g.37045489C>GCA359504262NIPBLc.6390C>G (p.Asn2130Lys)
c.1-19089C>G (p.=)
c.5646C>G (p.Asn1882Lys)
c.6192C>G (p.Asn2064Lys)
c.6009C>G (p.Asn2003Lys)
c.5730C>G (p.Asn1910Lys)
c.4773C>G (p.Asn1591Lys)
c.4764C>G (p.Asn1588Lys)
5g.37045489C>TCA3236997NIPBLc.6390C>T (p.Asn2130=)
c.1-19089C>T (p.=)
c.5646C>T (p.Asn1882=)
c.6192C>T (p.Asn2064=)
c.6009C>T (p.Asn2003=)
c.5730C>T (p.Asn1910=)
c.4773C>T (p.Asn1591=)
c.4764C>T (p.Asn1588=)
ClinVar dbSNP ExAC gnomAD
5g.37045490A>CCA359504266NIPBLc.6391A>C (p.Thr2131Pro)
c.1-19088A>C (p.=)
c.5647A>C (p.Thr1883Pro)
c.6193A>C (p.Thr2065Pro)
c.6010A>C (p.Thr2004Pro)
c.5731A>C (p.Thr1911Pro)
c.4774A>C (p.Thr1592Pro)
c.4765A>C (p.Thr1589Pro)
5g.37045490A>GCA359504270NIPBLc.6391A>G (p.Thr2131Ala)
c.1-19088A>G (p.=)
c.5647A>G (p.Thr1883Ala)
c.6193A>G (p.Thr2065Ala)
c.6010A>G (p.Thr2004Ala)
c.5731A>G (p.Thr1911Ala)
c.4774A>G (p.Thr1592Ala)
c.4765A>G (p.Thr1589Ala)
5g.37045490A>TCA359504271NIPBLc.6391A>T (p.Thr2131Ser)
c.1-19088A>T (p.=)
c.5647A>T (p.Thr1883Ser)
c.6193A>T (p.Thr2065Ser)
c.6010A>T (p.Thr2004Ser)
c.5731A>T (p.Thr1911Ser)
c.4774A>T (p.Thr1592Ser)
c.4765A>T (p.Thr1589Ser)
5g.37045491C>ACA359504274NIPBLc.6392C>A (p.Thr2131Asn)
c.1-19087C>A (p.=)
c.5648C>A (p.Thr1883Asn)
c.6194C>A (p.Thr2065Asn)
c.6011C>A (p.Thr2004Asn)
c.5732C>A (p.Thr1911Asn)
c.4775C>A (p.Thr1592Asn)
c.4766C>A (p.Thr1589Asn)
5g.37045491C>GCA359504280NIPBLc.6392C>G (p.Thr2131Ser)
c.1-19087C>G (p.=)
c.5648C>G (p.Thr1883Ser)
c.6194C>G (p.Thr2065Ser)
c.6011C>G (p.Thr2004Ser)
c.5732C>G (p.Thr1911Ser)
c.4775C>G (p.Thr1592Ser)
c.4766C>G (p.Thr1589Ser)
5g.37045491C>TCA359504277NIPBLc.6392C>T (p.Thr2131Ile)
c.1-19087C>T (p.=)
c.5648C>T (p.Thr1883Ile)
c.6194C>T (p.Thr2065Ile)
c.6011C>T (p.Thr2004Ile)
c.5732C>T (p.Thr1911Ile)
c.4775C>T (p.Thr1592Ile)
c.4766C>T (p.Thr1589Ile)

Number of alleles fetched