Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18784849G>ACA2583621555COMPc.1914+47C>T (n.1914+47C>T)
c.1755+47C>T (n.1755+47C>T)
c.1815+47C>T (n.1815+47C>T)
 gnomAD v4
19g.18784849G=CA2326524845COMPc.1914+47C= (n.1914+47C=)
c.1755+47C= (n.1755+47C=)
c.1815+47C= (n.1815+47C=)
19g.18784852_18784854dupCA632626790COMPc.1914+44_1914+46dup (n.1914+44_1914+46dup)
c.1755+44_1755+46dup (n.1755+44_1755+46dup)
c.1815+44_1815+46dup (n.1815+44_1815+46dup)
 dbSNP gnomAD v2 gnomAD v4
19g.18784853G>ACA9316240COMPc.1914+43C>T (n.1914+43C>T)
c.1755+43C>T (n.1755+43C>T)
c.1815+43C>T (n.1815+43C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18784853G=CA2326524846COMPc.1914+43C= (n.1914+43C=)
c.1755+43C= (n.1755+43C=)
c.1815+43C= (n.1815+43C=)
19g.18784853G>TCA2583621556COMPc.1914+43C>A (n.1914+43C>A)
c.1755+43C>A (n.1755+43C>A)
c.1815+43C>A (n.1815+43C>A)
 gnomAD v4
19g.18784854G>TCA2583621557COMPc.1914+42C>A (n.1914+42C>A)
c.1755+42C>A (n.1755+42C>A)
c.1815+42C>A (n.1815+42C>A)
 gnomAD v4
19g.18784855G>CCA2583621558COMPc.1914+41C>G (n.1914+41C>G)
c.1755+41C>G (n.1755+41C>G)
c.1815+41C>G (n.1815+41C>G)
 gnomAD v4
19g.18784856C>TCA2583621559COMPc.1914+40G>A (n.1914+40G>A)
c.1755+40G>A (n.1755+40G>A)
c.1815+40G>A (n.1815+40G>A)
 gnomAD v4
19g.18784857A=CA2326524847COMPc.1914+39T= (n.1914+39T=)
c.1755+39T= (n.1755+39T=)
c.1815+39T= (n.1815+39T=)
19g.18784857A>GCA632626791COMPc.1914+39T>C (n.1914+39T>C)
c.1755+39T>C (n.1755+39T>C)
c.1815+39T>C (n.1815+39T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18784857A>TCA2735650107COMPc.1914+39T>A (n.1914+39T>A)
c.1755+39T>A (n.1755+39T>A)
c.1815+39T>A (n.1815+39T>A)
 dbSNP
19g.18784858T>CCA2813846951COMPc.1914+38A>G (n.1914+38A>G)
c.1755+38A>G (n.1755+38A>G)
c.1815+38A>G (n.1815+38A>G)
19g.18784859G>ACA632626792COMPc.1914+37C>T (n.1914+37C>T)
c.1755+37C>T (n.1755+37C>T)
c.1815+37C>T (n.1815+37C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18784859G=CA2326524848COMPc.1914+37C= (n.1914+37C=)
c.1755+37C= (n.1755+37C=)
c.1815+37C= (n.1815+37C=)
19g.18784859G>TCA2583621560COMPc.1914+37C>A (n.1914+37C>A)
c.1755+37C>A (n.1755+37C>A)
c.1815+37C>A (n.1815+37C>A)
 gnomAD v4
19g.18784861G>TCA2583621561COMPc.1914+35C>A (n.1914+35C>A)
c.1755+35C>A (n.1755+35C>A)
c.1815+35C>A (n.1815+35C>A)
 gnomAD v4
19g.18784862G>ACA2326524850COMPc.1914+34C>T (n.1914+34C>T)
c.1755+34C>T (n.1755+34C>T)
c.1815+34C>T (n.1815+34C>T)
 dbSNP gnomAD v4
19g.18784862G=CA2326524849COMPc.1914+34C= (n.1914+34C=)
c.1755+34C= (n.1755+34C=)
c.1815+34C= (n.1815+34C=)
19g.18784862G>TCA2583621562COMPc.1914+34C>A (n.1914+34C>A)
c.1755+34C>A (n.1755+34C>A)
c.1815+34C>A (n.1815+34C>A)
 gnomAD v4
19g.18784865C>ACA2583621563COMPc.1914+31G>T (n.1914+31G>T)
c.1755+31G>T (n.1755+31G>T)
c.1815+31G>T (n.1815+31G>T)
 gnomAD v4
19g.18784865C=CA2326524851COMPc.1914+31G= (n.1914+31G=)
c.1755+31G= (n.1755+31G=)
c.1815+31G= (n.1815+31G=)
19g.18784865C>GCA9316242COMPc.1914+31G>C (n.1914+31G>C)
c.1755+31G>C (n.1755+31G>C)
c.1815+31G>C (n.1815+31G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18784865C>TCA9316241COMPc.1914+31G>A (n.1914+31G>A)
c.1755+31G>A (n.1755+31G>A)
c.1815+31G>A (n.1815+31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784866G>ACA632626793COMPc.1914+30C>T (n.1914+30C>T)
c.1755+30C>T (n.1755+30C>T)
c.1815+30C>T (n.1815+30C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18784866G=CA2326524852COMPc.1914+30C= (n.1914+30C=)
c.1755+30C= (n.1755+30C=)
c.1815+30C= (n.1815+30C=)
19g.18784867C=CA2326524853COMPc.1914+29G= (n.1914+29G=)
c.1755+29G= (n.1755+29G=)
c.1815+29G= (n.1815+29G=)
19g.18784867C>TCA994240446COMPc.1914+29G>A (n.1914+29G>A)
c.1755+29G>A (n.1755+29G>A)
c.1815+29G>A (n.1815+29G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18784869G>TCA2583621564COMPc.1914+27C>A (n.1914+27C>A)
c.1755+27C>A (n.1755+27C>A)
c.1815+27C>A (n.1815+27C>A)
 gnomAD v4
19g.18784870A>TCA2576725710COMPc.1914+26T>A (n.1914+26T>A)
c.1755+26T>A (n.1755+26T>A)
c.1815+26T>A (n.1815+26T>A)
19g.18784870_18784871delinsAGCA2326524854COMPc.1914+25_1914+26delinsCT (n.1914+25_1914+26delinsCT)
c.1755+25_1755+26delinsCT (n.1755+25_1755+26delinsCT)
c.1815+25_1815+26delinsCT (n.1815+25_1815+26delinsCT)
19g.18784871G>CCA2326524855COMPc.1914+25C>G (n.1914+25C>G)
c.1755+25C>G (n.1755+25C>G)
c.1815+25C>G (n.1815+25C>G)
 dbSNP
19g.18784871G=CA2326524856COMPc.1914+25C= (n.1914+25C=)
c.1755+25C= (n.1755+25C=)
c.1815+25C= (n.1815+25C=)
19g.18784872delCA2326524857COMPc.1914+25del (n.1914+25del)
c.1755+25del (n.1755+25del)
c.1815+25del (n.1815+25del)
 dbSNP
19g.18784872G>TCA2576725711COMPc.1914+24C>A (n.1914+24C>A)
c.1755+24C>A (n.1755+24C>A)
c.1815+24C>A (n.1815+24C>A)
19g.18784873T>CCA9316243COMPc.1914+23A>G (n.1914+23A>G)
c.1755+23A>G (n.1755+23A>G)
c.1815+23A>G (n.1815+23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784873T=CA2326524858COMPc.1914+23A= (n.1914+23A=)
c.1755+23A= (n.1755+23A=)
c.1815+23A= (n.1815+23A=)
19g.18784876G>ACA2583621565COMPc.1914+20C>T (n.1914+20C>T)
c.1755+20C>T (n.1755+20C>T)
c.1815+20C>T (n.1815+20C>T)
 gnomAD v4
19g.18784877G>ACA2583621566COMPc.1914+19C>T (n.1914+19C>T)
c.1755+19C>T (n.1755+19C>T)
c.1815+19C>T (n.1815+19C>T)
 gnomAD v4
19g.18784878C>ACA2583621567COMPc.1914+18G>T (n.1914+18G>T)
c.1755+18G>T (n.1755+18G>T)
c.1815+18G>T (n.1815+18G>T)
 gnomAD v4
19g.18784878C=CA2326524859COMPc.1914+18G= (n.1914+18G=)
c.1755+18G= (n.1755+18G=)
c.1815+18G= (n.1815+18G=)
19g.18784878C>TCA632626794COMPc.1914+18G>A (n.1914+18G>A)
c.1755+18G>A (n.1755+18G>A)
c.1815+18G>A (n.1815+18G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18784880C>ACA306253459COMPc.1914+16G>T (n.1914+16G>T)
c.1755+16G>T (n.1755+16G>T)
c.1815+16G>T (n.1815+16G>T)
 dbSNP
19g.18784880C=CA2326524860COMPc.1914+16G= (n.1914+16G=)
c.1755+16G= (n.1755+16G=)
c.1815+16G= (n.1815+16G=)
19g.18784880C>TCA306253470COMPc.1914+16G>A (n.1914+16G>A)
c.1755+16G>A (n.1755+16G>A)
c.1815+16G>A (n.1815+16G>A)
 dbSNP gnomAD v4
19g.18784881G>ACA2326524862COMPc.1914+15C>T (n.1914+15C>T)
c.1755+15C>T (n.1755+15C>T)
c.1815+15C>T (n.1815+15C>T)
 dbSNP gnomAD v4
19g.18784881G=CA2326524861COMPc.1914+15C= (n.1914+15C=)
c.1755+15C= (n.1755+15C=)
c.1815+15C= (n.1815+15C=)
19g.18784882G>TCA2583621568COMPc.1914+14C>A (n.1914+14C>A)
c.1755+14C>A (n.1755+14C>A)
c.1815+14C>A (n.1815+14C>A)
 gnomAD v4
19g.18784884C>ACA2583621569COMPc.1914+12G>T (n.1914+12G>T)
c.1755+12G>T (n.1755+12G>T)
c.1815+12G>T (n.1815+12G>T)
 gnomAD v4
19g.18784884C=CA2326524863COMPc.1914+12G= (n.1914+12G=)
c.1755+12G= (n.1755+12G=)
c.1815+12G= (n.1815+12G=)
19g.18784884C>TCA2326524864COMPc.1914+12G>A (n.1914+12G>A)
c.1755+12G>A (n.1755+12G>A)
c.1815+12G>A (n.1815+12G>A)
 dbSNP gnomAD v4
19g.18784885G>ACA306253473COMPc.1914+11C>T (n.1914+11C>T)
c.1755+11C>T (n.1755+11C>T)
c.1815+11C>T (n.1815+11C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18784885G=CA2326524865COMPc.1914+11C= (n.1914+11C=)
c.1755+11C= (n.1755+11C=)
c.1815+11C= (n.1815+11C=)
19g.18784886G>CCA2583621570COMPc.1914+10C>G (n.1914+10C>G)
c.1755+10C>G (n.1755+10C>G)
c.1815+10C>G (n.1815+10C>G)
 gnomAD v4
19g.18784887C=CA2326524866COMPc.1914+9G= (n.1914+9G=)
c.1755+9G= (n.1755+9G=)
c.1815+9G= (n.1815+9G=)
19g.18784887C>TCA306253476COMPc.1914+9G>A (n.1914+9G>A)
c.1755+9G>A (n.1755+9G>A)
c.1815+9G>A (n.1815+9G>A)
 dbSNP gnomAD v4
19g.18784889delCA2576725712COMPc.1914+9del (n.1914+9del)
c.1755+9del (n.1755+9del)
c.1815+9del (n.1815+9del)
19g.18784888C>ACA2735623752COMPc.1914+8G>T (n.1914+8G>T)
c.1755+8G>T (n.1755+8G>T)
c.1815+8G>T (n.1815+8G>T)
 dbSNP
19g.18784888C=CA2326524867COMPc.1914+8G= (n.1914+8G=)
c.1755+8G= (n.1755+8G=)
c.1815+8G= (n.1815+8G=)
19g.18784888C>TCA9316244COMPc.1914+8G>A (n.1914+8G>A)
c.1755+8G>A (n.1755+8G>A)
c.1815+8G>A (n.1815+8G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18784891G>ACA2583621571COMPc.1914+5C>T (n.1914+5C>T)
c.1755+5C>T (n.1755+5C>T)
c.1815+5C>T (n.1815+5C>T)
 gnomAD v4
19g.18784892G>ACA2576725713COMPc.1914+4C>T (n.1914+4C>T)
c.1755+4C>T (n.1755+4C>T)
c.1815+4C>T (n.1815+4C>T)
 gnomAD v4
19g.18784893C>ACA2583621572COMPc.1914+3G>T (n.1914+3G>T)
c.1755+3G>T (n.1755+3G>T)
c.1815+3G>T (n.1815+3G>T)
 gnomAD v4
19g.18784893C=CA2326524868COMPc.1914+3G= (n.1914+3G=)
c.1755+3G= (n.1755+3G=)
c.1815+3G= (n.1815+3G=)
19g.18784893C>TCA632626795COMPc.1914+3G>A (n.1914+3G>A)
c.1755+3G>A (n.1755+3G>A)
c.1815+3G>A (n.1815+3G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18784894A>CCA404877685COMPc.1914+2T>G (n.1914+2T>G)
c.1755+2T>G (n.1755+2T>G)
c.1815+2T>G (n.1815+2T>G)
19g.18784894A>GCA404877686COMPc.1914+2T>C (n.1914+2T>C)
c.1755+2T>C (n.1755+2T>C)
c.1815+2T>C (n.1815+2T>C)
19g.18784894A>TCA404877689COMPc.1914+2T>A (n.1914+2T>A)
c.1755+2T>A (n.1755+2T>A)
c.1815+2T>A (n.1815+2T>A)
19g.18784895C>ACA404877696COMPc.1914+1G>T (n.1914+1G>T)
c.1755+1G>T (n.1755+1G>T)
c.1815+1G>T (n.1815+1G>T)
19g.18784895C>GCA404877693COMPc.1914+1G>C (n.1914+1G>C)
c.1755+1G>C (n.1755+1G>C)
c.1815+1G>C (n.1815+1G>C)
19g.18784895C>TCA404877694COMPc.1914+1G>A (n.1914+1G>A)
c.1755+1G>A (n.1755+1G>A)
c.1815+1G>A (n.1815+1G>A)
19g.18784896C>ACA404877700COMPc.1914G>T (p.Lys638Asn)
c.1755G>T (p.Lys585Asn)
c.1815G>T (p.Lys605Asn)
19g.18784896C>GCA404877702COMPc.1914G>C (p.Lys638Asn)
c.1755G>C (p.Lys585Asn)
c.1815G>C (p.Lys605Asn)
 ClinVar
19g.18784896C>TCA506052328COMPc.1914G>A (p.Lys638=)
c.1755G>A (p.Lys585=)
c.1815G>A (p.Lys605=)
19g.18784897T>ACA404877705COMPc.1913A>T (p.Lys638Met)
c.1754A>T (p.Lys585Met)
c.1814A>T (p.Lys605Met)
 gnomAD v4
19g.18784897T>CCA404877707COMPc.1913A>G (p.Lys638Arg)
c.1754A>G (p.Lys585Arg)
c.1814A>G (p.Lys605Arg)
19g.18784897T>GCA404877710COMPc.1913A>C (p.Lys638Thr)
c.1754A>C (p.Lys585Thr)
c.1814A>C (p.Lys605Thr)
19g.18784898T>ACA404877713COMPc.1912A>T (p.Lys638Ter)
c.1753A>T (p.Lys585Ter)
c.1813A>T (p.Lys605Ter)
19g.18784898T>CCA404877716COMPc.1912A>G (p.Lys638Glu)
c.1753A>G (p.Lys585Glu)
c.1813A>G (p.Lys605Glu)
19g.18784898T>GCA404877717COMPc.1912A>C (p.Lys638Gln)
c.1753A>C (p.Lys585Gln)
c.1813A>C (p.Lys605Gln)
19g.18784899G>ACA506052329COMPc.1911C>T (p.Leu637=)
c.1752C>T (p.Leu584=)
c.1812C>T (p.Leu604=)
19g.18784899G>CCA506052330COMPc.1911C>G (p.Leu637=)
c.1752C>G (p.Leu584=)
c.1812C>G (p.Leu604=)
19g.18784899G>TCA506052331COMPc.1911C>A (p.Leu637=)
c.1752C>A (p.Leu584=)
c.1812C>A (p.Leu604=)
19g.18784900A>CCA404877722COMPc.1910T>G (p.Leu637Arg)
c.1751T>G (p.Leu584Arg)
c.1811T>G (p.Leu604Arg)
19g.18784900A>GCA404877723COMPc.1910T>C (p.Leu637Pro)
c.1751T>C (p.Leu584Pro)
c.1811T>C (p.Leu604Pro)
19g.18784900A>TCA404877725COMPc.1910T>A (p.Leu637His)
c.1751T>A (p.Leu584His)
c.1811T>A (p.Leu604His)
19g.18784901G>ACA404877731COMPc.1909C>T (p.Leu637Phe)
c.1750C>T (p.Leu584Phe)
c.1810C>T (p.Leu604Phe)
19g.18784901G>CCA404877733COMPc.1909C>G (p.Leu637Val)
c.1750C>G (p.Leu584Val)
c.1810C>G (p.Leu604Val)
19g.18784901G>TCA404877728COMPc.1909C>A (p.Leu637Ile)
c.1750C>A (p.Leu584Ile)
c.1810C>A (p.Leu604Ile)
19g.18784902T>ACA404877737COMPc.1908A>T (p.Gln636His)
c.1749A>T (p.Gln583His)
c.1809A>T (p.Gln603His)
19g.18784902T>CCA506052332COMPc.1908A>G (p.Gln636=)
c.1749A>G (p.Gln583=)
c.1809A>G (p.Gln603=)
 COSMIC
19g.18784902T>GCA404877738COMPc.1908A>C (p.Gln636His)
c.1749A>C (p.Gln583His)
c.1809A>C (p.Gln603His)
19g.18784903T>ACA404877740COMPc.1907A>T (p.Gln636Leu)
c.1748A>T (p.Gln583Leu)
c.1808A>T (p.Gln603Leu)
19g.18784903T>CCA404877741COMPc.1907A>G (p.Gln636Arg)
c.1748A>G (p.Gln583Arg)
c.1808A>G (p.Gln603Arg)
19g.18784903T>GCA404877744COMPc.1907A>C (p.Gln636Pro)
c.1748A>C (p.Gln583Pro)
c.1808A>C (p.Gln603Pro)
19g.18784904G>ACA404877748COMPc.1906C>T (p.Gln636Ter)
c.1747C>T (p.Gln583Ter)
c.1807C>T (p.Gln603Ter)
 dbSNP
19g.18784904G>CCA404877750COMPc.1906C>G (p.Gln636Glu)
c.1747C>G (p.Gln583Glu)
c.1807C>G (p.Gln603Glu)
19g.18784904G=CA2326524869COMPc.1906C= (p.Gln636=)
c.1747C= (p.Gln583=)
c.1807C= (p.Gln603=)
19g.18784904G>TCA404877751COMPc.1906C>A (p.Gln636Lys)
c.1747C>A (p.Gln583Lys)
c.1807C>A (p.Gln603Lys)
19g.18784905G>ACA506052333COMPc.1905C>T (p.Ile635=)
c.1746C>T (p.Ile582=)
c.1806C>T (p.Ile602=)
19g.18784905G>CCA404877754COMPc.1905C>G (p.Ile635Met)
c.1746C>G (p.Ile582Met)
c.1806C>G (p.Ile602Met)
 gnomAD v4
19g.18784905G>TCA506052334COMPc.1905C>A (p.Ile635=)
c.1746C>A (p.Ile582=)
c.1806C>A (p.Ile602=)
 dbSNP
19g.18784906A>CCA404877756COMPc.1904T>G (p.Ile635Ser)
c.1745T>G (p.Ile582Ser)
c.1805T>G (p.Ile602Ser)
19g.18784906A>GCA404877759COMPc.1904T>C (p.Ile635Thr)
c.1745T>C (p.Ile582Thr)
c.1805T>C (p.Ile602Thr)
19g.18784906A>TCA404877761COMPc.1904T>A (p.Ile635Asn)
c.1745T>A (p.Ile582Asn)
c.1805T>A (p.Ile602Asn)
19g.18784907T>ACA404877768COMPc.1903A>T (p.Ile635Phe)
c.1744A>T (p.Ile582Phe)
c.1804A>T (p.Ile602Phe)
19g.18784907T>CCA404877771COMPc.1903A>G (p.Ile635Val)
c.1744A>G (p.Ile582Val)
c.1804A>G (p.Ile602Val)
19g.18784907T>GCA404877766COMPc.1903A>C (p.Ile635Leu)
c.1744A>C (p.Ile582Leu)
c.1804A>C (p.Ile602Leu)
19g.18784908G>ACA506052337COMPc.1902C>T (p.Gly634=)
c.1743C>T (p.Gly581=)
c.1803C>T (p.Gly601=)
19g.18784908G>CCA506052335COMPc.1902C>G (p.Gly634=)
c.1743C>G (p.Gly581=)
c.1803C>G (p.Gly601=)
19g.18784908G>TCA506052336COMPc.1902C>A (p.Gly634=)
c.1743C>A (p.Gly581=)
c.1803C>A (p.Gly601=)
19g.18784909C>ACA404877774COMPc.1901G>T (p.Gly634Val)
c.1742G>T (p.Gly581Val)
c.1802G>T (p.Gly601Val)
19g.18784909C=CA2326524870COMPc.1901G= (p.Gly634=)
c.1742G= (p.Gly581=)
c.1802G= (p.Gly601=)
19g.18784909C>GCA404877777COMPc.1901G>C (p.Gly634Ala)
c.1742G>C (p.Gly581Ala)
c.1802G>C (p.Gly601Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.18784909C>TCA404877779COMPc.1901G>A (p.Gly634Asp)
c.1742G>A (p.Gly581Asp)
c.1802G>A (p.Gly601Asp)
19g.18784910C>ACA404877783COMPc.1900G>T (p.Gly634Cys)
c.1741G>T (p.Gly581Cys)
c.1801G>T (p.Gly601Cys)
19g.18784910C=CA2326524871COMPc.1900G= (p.Gly634=)
c.1741G= (p.Gly581=)
c.1801G= (p.Gly601=)
19g.18784910C>GCA306253481COMPc.1900G>C (p.Gly634Arg)
c.1741G>C (p.Gly581Arg)
c.1801G>C (p.Gly601Arg)
 dbSNP gnomAD v4
19g.18784910C>TCA404877787COMPc.1900G>A (p.Gly634Ser)
c.1741G>A (p.Gly581Ser)
c.1801G>A (p.Gly601Ser)
 dbSNP
19g.18784911A>CCA506052338COMPc.1899T>G (p.Pro633=)
c.1740T>G (p.Pro580=)
c.1800T>G (p.Pro600=)
19g.18784911A>GCA506052339COMPc.1899T>C (p.Pro633=)
c.1740T>C (p.Pro580=)
c.1800T>C (p.Pro600=)
19g.18784911A>TCA506052340COMPc.1899T>A (p.Pro633=)
c.1740T>A (p.Pro580=)
c.1800T>A (p.Pro600=)
19g.18784912G>ACA306253509COMPc.1898C>T (p.Pro633Leu)
c.1739C>T (p.Pro580Leu)
c.1799C>T (p.Pro600Leu)
 ClinVar dbSNP gnomAD v4
19g.18784912G>CCA404877793COMPc.1898C>G (p.Pro633Arg)
c.1739C>G (p.Pro580Arg)
c.1799C>G (p.Pro600Arg)
19g.18784912G=CA2326524872COMPc.1898C= (p.Pro633=)
c.1739C= (p.Pro580=)
c.1799C= (p.Pro600=)
19g.18784912G>TCA404877790COMPc.1898C>A (p.Pro633His)
c.1739C>A (p.Pro580His)
c.1799C>A (p.Pro600His)
19g.18784913G>ACA404877796COMPc.1897C>T (p.Pro633Ser)
c.1738C>T (p.Pro580Ser)
c.1798C>T (p.Pro600Ser)
19g.18784913G>CCA404877799COMPc.1897C>G (p.Pro633Ala)
c.1738C>G (p.Pro580Ala)
c.1798C>G (p.Pro600Ala)
 gnomAD v4
19g.18784913G>TCA404877801COMPc.1897C>A (p.Pro633Thr)
c.1738C>A (p.Pro580Thr)
c.1798C>A (p.Pro600Thr)
19g.18784914C>ACA404877805COMPc.1896G>T (p.Glu632Asp)
c.1737G>T (p.Glu579Asp)
c.1797G>T (p.Glu599Asp)
19g.18784914C=CA2326524873COMPc.1896G= (p.Glu632=)
c.1737G= (p.Glu579=)
c.1797G= (p.Glu599=)
19g.18784914C>GCA404877808COMPc.1896G>C (p.Glu632Asp)
c.1737G>C (p.Glu579Asp)
c.1797G>C (p.Glu599Asp)
19g.18784914C>TCA506052341COMPc.1896G>A (p.Glu632=)
c.1737G>A (p.Glu579=)
c.1797G>A (p.Glu599=)
 dbSNP gnomAD v2 gnomAD v4
19g.18784915T>ACA404877817COMPc.1895A>T (p.Glu632Val)
c.1736A>T (p.Glu579Val)
c.1796A>T (p.Glu599Val)
19g.18784915T>CCA404877814COMPc.1895A>G (p.Glu632Gly)
c.1736A>G (p.Glu579Gly)
c.1796A>G (p.Glu599Gly)
19g.18784915T>GCA404877812COMPc.1895A>C (p.Glu632Ala)
c.1736A>C (p.Glu579Ala)
c.1796A>C (p.Glu599Ala)
19g.18784916C>ACA404877822COMPc.1894G>T (p.Glu632Ter)
c.1735G>T (p.Glu579Ter)
c.1795G>T (p.Glu599Ter)
19g.18784916C=CA2326524874COMPc.1894G= (p.Glu632=)
c.1735G= (p.Glu579=)
c.1795G= (p.Glu599=)
19g.18784916C>GCA404877820COMPc.1894G>C (p.Glu632Gln)
c.1735G>C (p.Glu579Gln)
c.1795G>C (p.Glu599Gln)
19g.18784916C>TCA9316245COMPc.1894G>A (p.Glu632Lys)
c.1735G>A (p.Glu579Lys)
c.1795G>A (p.Glu599Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784917G>ACA506052342COMPc.1893C>T (p.Ala631=)
c.1734C>T (p.Ala578=)
c.1794C>T (p.Ala598=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18784917G>CCA9316246COMPc.1893C>G (p.Ala631=)
c.1734C>G (p.Ala578=)
c.1794C>G (p.Ala598=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784917G=CA2326524875COMPc.1893C= (p.Ala631=)
c.1734C= (p.Ala578=)
c.1794C= (p.Ala598=)
19g.18784917G>TCA506052343COMPc.1893C>A (p.Ala631=)
c.1734C>A (p.Ala578=)
c.1794C>A (p.Ala598=)
 dbSNP
19g.18784918G>ACA404877827COMPc.1892C>T (p.Ala631Val)
c.1733C>T (p.Ala578Val)
c.1793C>T (p.Ala598Val)
19g.18784918G>CCA404877834COMPc.1892C>G (p.Ala631Gly)
c.1733C>G (p.Ala578Gly)
c.1793C>G (p.Ala598Gly)
19g.18784918G>TCA404877838COMPc.1892C>A (p.Ala631Asp)
c.1733C>A (p.Ala578Asp)
c.1793C>A (p.Ala598Asp)
19g.18784919C>ACA404877846COMPc.1891G>T (p.Ala631Ser)
c.1732G>T (p.Ala578Ser)
c.1792G>T (p.Ala598Ser)
19g.18784919C>GCA404877843COMPc.1891G>C (p.Ala631Pro)
c.1732G>C (p.Ala578Pro)
c.1792G>C (p.Ala598Pro)
19g.18784919C>TCA404877841COMPc.1891G>A (p.Ala631Thr)
c.1732G>A (p.Ala578Thr)
c.1792G>A (p.Ala598Thr)
19g.18784920C>ACA506052344COMPc.1890G>T (p.Val630=)
c.1731G>T (p.Val577=)
c.1791G>T (p.Val597=)
19g.18784920C>GCA506052345COMPc.1890G>C (p.Val630=)
c.1731G>C (p.Val577=)
c.1791G>C (p.Val597=)
19g.18784920C>TCA506052346COMPc.1890G>A (p.Val630=)
c.1731G>A (p.Val577=)
c.1791G>A (p.Val597=)
19g.18784921A>CCA404877850COMPc.1889T>G (p.Val630Gly)
c.1730T>G (p.Val577Gly)
c.1790T>G (p.Val597Gly)
19g.18784921A>GCA404877853COMPc.1889T>C (p.Val630Ala)
c.1730T>C (p.Val577Ala)
c.1790T>C (p.Val597Ala)
19g.18784921A>TCA404877854COMPc.1889T>A (p.Val630Glu)
c.1730T>A (p.Val577Glu)
c.1790T>A (p.Val597Glu)
19g.18784922C>ACA404877858COMPc.1888G>T (p.Val630Leu)
c.1729G>T (p.Val577Leu)
c.1789G>T (p.Val597Leu)
19g.18784922C=CA2326524876COMPc.1888G= (p.Val630=)
c.1729G= (p.Val577=)
c.1789G= (p.Val597=)
19g.18784922C>GCA404877861COMPc.1888G>C (p.Val630Leu)
c.1729G>C (p.Val577Leu)
c.1789G>C (p.Val597Leu)
19g.18784922C>TCA404877863COMPc.1888G>A (p.Val630Met)
c.1729G>A (p.Val577Met)
c.1789G>A (p.Val597Met)
 ClinVar dbSNP gnomAD v4
19g.18784923A=CA2326524877COMPc.1887T= (p.Ala629=)
c.1728T= (p.Ala576=)
c.1788T= (p.Ala596=)
19g.18784923A>CCA506052347COMPc.1887T>G (p.Ala629=)
c.1728T>G (p.Ala576=)
c.1788T>G (p.Ala596=)
19g.18784923A>GCA506052348COMPc.1887T>C (p.Ala629=)
c.1728T>C (p.Ala576=)
c.1788T>C (p.Ala596=)
 dbSNP gnomAD v4
19g.18784923A>TCA506052349COMPc.1887T>A (p.Ala629=)
c.1728T>A (p.Ala576=)
c.1788T>A (p.Ala596=)
19g.18784924G>ACA404877868COMPc.1886C>T (p.Ala629Val)
c.1727C>T (p.Ala576Val)
c.1787C>T (p.Ala596Val)
19g.18784924G>CCA404877873COMPc.1886C>G (p.Ala629Gly)
c.1727C>G (p.Ala576Gly)
c.1787C>G (p.Ala596Gly)
19g.18784924G>TCA404877870COMPc.1886C>A (p.Ala629Asp)
c.1727C>A (p.Ala576Asp)
c.1787C>A (p.Ala596Asp)
19g.18784925C>ACA404877877COMPc.1885G>T (p.Ala629Ser)
c.1726G>T (p.Ala576Ser)
c.1786G>T (p.Ala596Ser)
19g.18784925C>GCA404877880COMPc.1885G>C (p.Ala629Pro)
c.1726G>C (p.Ala576Pro)
c.1786G>C (p.Ala596Pro)
19g.18784925C>TCA404877881COMPc.1885G>A (p.Ala629Thr)
c.1726G>A (p.Ala576Thr)
c.1786G>A (p.Ala596Thr)
19g.18784926A>CCA506052350COMPc.1884T>G (p.Arg628=)
c.1725T>G (p.Arg575=)
c.1785T>G (p.Arg595=)
19g.18784926A>GCA506052351COMPc.1884T>C (p.Arg628=)
c.1725T>C (p.Arg575=)
c.1785T>C (p.Arg595=)
19g.18784926A>TCA506052352COMPc.1884T>A (p.Arg628=)
c.1725T>A (p.Arg575=)
c.1785T>A (p.Arg595=)
19g.18784927C>ACA404877882COMPc.1883G>T (p.Arg628Leu)
c.1724G>T (p.Arg575Leu)
c.1784G>T (p.Arg595Leu)
19g.18784927C=CA2326524878COMPc.1883G= (p.Arg628=)
c.1724G= (p.Arg575=)
c.1784G= (p.Arg595=)
19g.18784927C>GCA404877884COMPc.1883G>C (p.Arg628Pro)
c.1724G>C (p.Arg575Pro)
c.1784G>C (p.Arg595Pro)
 ClinVar dbSNP COSMIC
19g.18784927C>TCA404877887COMPc.1883G>A (p.Arg628His)
c.1724G>A (p.Arg575His)
c.1784G>A (p.Arg595His)
 dbSNP gnomAD v3 gnomAD v4
19g.18784928G>ACA404877890COMPc.1882C>T (p.Arg628Cys)
c.1723C>T (p.Arg575Cys)
c.1783C>T (p.Arg595Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18784928G>CCA404877891COMPc.1882C>G (p.Arg628Gly)
c.1723C>G (p.Arg575Gly)
c.1783C>G (p.Arg595Gly)
19g.18784928G=CA2326524879COMPc.1882C= (p.Arg628=)
c.1723C= (p.Arg575=)
c.1783C= (p.Arg595=)
19g.18784928G>TCA404877893COMPc.1882C>A (p.Arg628Ser)
c.1723C>A (p.Arg575Ser)
c.1783C>A (p.Arg595Ser)
19g.18784929G>ACA9316247COMPc.1881C>T (p.Phe627=)
c.1722C>T (p.Phe574=)
c.1782C>T (p.Phe594=)
 dbSNP ExAC gnomAD v2
19g.18784929G>CCA404877899COMPc.1881C>G (p.Phe627Leu)
c.1722C>G (p.Phe574Leu)
c.1782C>G (p.Phe594Leu)
19g.18784929G=CA2326524880COMPc.1881C= (p.Phe627=)
c.1722C= (p.Phe574=)
c.1782C= (p.Phe594=)
19g.18784929G>TCA404877900COMPc.1881C>A (p.Phe627Leu)
c.1722C>A (p.Phe574Leu)
c.1782C>A (p.Phe594Leu)
19g.18784930A>CCA404877903COMPc.1880T>G (p.Phe627Cys)
c.1721T>G (p.Phe574Cys)
c.1781T>G (p.Phe594Cys)
19g.18784930A>GCA404877909COMPc.1880T>C (p.Phe627Ser)
c.1721T>C (p.Phe574Ser)
c.1781T>C (p.Phe594Ser)
19g.18784930A>TCA404877906COMPc.1880T>A (p.Phe627Tyr)
c.1721T>A (p.Phe574Tyr)
c.1781T>A (p.Phe594Tyr)
19g.18784931A=CA2326524881COMPc.1879T= (p.Phe627=)
c.1720T= (p.Phe574=)
c.1780T= (p.Phe594=)
19g.18784931A>CCA404877911COMPc.1879T>G (p.Phe627Val)
c.1720T>G (p.Phe574Val)
c.1780T>G (p.Phe594Val)
19g.18784931A>GCA9316248COMPc.1879T>C (p.Phe627Leu)
c.1720T>C (p.Phe574Leu)
c.1780T>C (p.Phe594Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18784931A>TCA404877915COMPc.1879T>A (p.Phe627Ile)
c.1720T>A (p.Phe574Ile)
c.1780T>A (p.Phe594Ile)
19g.18784932G>ACA506052353COMPc.1878C>T (p.Pro626=)
c.1719C>T (p.Pro573=)
c.1779C>T (p.Pro593=)
 gnomAD v4
19g.18784932G>CCA506052354COMPc.1878C>G (p.Pro626=)
c.1719C>G (p.Pro573=)
c.1779C>G (p.Pro593=)
19g.18784932G>TCA506052355COMPc.1878C>A (p.Pro626=)
c.1719C>A (p.Pro573=)
c.1779C>A (p.Pro593=)
 gnomAD v4
19g.18784935delCA2583621573COMPc.1878del (p.Phe627SerfsTer14)
c.1719del (p.Phe574SerfsTer14)
c.1779del (p.Phe594SerfsTer14)
 gnomAD v4
19g.18784933G>ACA404877917COMPc.1877C>T (p.Pro626Leu)
c.1718C>T (p.Pro573Leu)
c.1778C>T (p.Pro593Leu)
 ClinVar dbSNP gnomAD v4
19g.18784933G>CCA404877920COMPc.1877C>G (p.Pro626Arg)
c.1718C>G (p.Pro573Arg)
c.1778C>G (p.Pro593Arg)
19g.18784933G=CA2326524882COMPc.1877C= (p.Pro626=)
c.1718C= (p.Pro573=)
c.1778C= (p.Pro593=)
19g.18784933G>TCA404877923COMPc.1877C>A (p.Pro626His)
c.1718C>A (p.Pro573His)
c.1778C>A (p.Pro593His)
19g.18784934G>ACA404877932COMPc.1876C>T (p.Pro626Ser)
c.1717C>T (p.Pro573Ser)
c.1777C>T (p.Pro593Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.18784934G>CCA404877926COMPc.1876C>G (p.Pro626Ala)
c.1717C>G (p.Pro573Ala)
c.1777C>G (p.Pro593Ala)
19g.18784934G=CA2326524883COMPc.1876C= (p.Pro626=)
c.1717C= (p.Pro573=)
c.1777C= (p.Pro593=)
19g.18784934G>TCA404877929COMPc.1876C>A (p.Pro626Thr)
c.1717C>A (p.Pro573Thr)
c.1777C>A (p.Pro593Thr)
 dbSNP
19g.18784935G>ACA506052356COMPc.1875C>T (p.Asn625=)
c.1716C>T (p.Asn572=)
c.1776C>T (p.Asn592=)
19g.18784935G>CCA404877934COMPc.1875C>G (p.Asn625Lys)
c.1716C>G (p.Asn572Lys)
c.1776C>G (p.Asn592Lys)
19g.18784935G=CA2326524884COMPc.1875C= (p.Asn625=)
c.1716C= (p.Asn572=)
c.1776C= (p.Asn592=)
19g.18784935G>TCA9316249COMPc.1875C>A (p.Asn625Lys)
c.1716C>A (p.Asn572Lys)
c.1776C>A (p.Asn592Lys)
 dbSNP ExAC
19g.18784936T>ACA9316251COMPc.1874A>T (p.Asn625Ile)
c.1715A>T (p.Asn572Ile)
c.1775A>T (p.Asn592Ile)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.18784936T>CCA404877942COMPc.1874A>G (p.Asn625Ser)
c.1715A>G (p.Asn572Ser)
c.1775A>G (p.Asn592Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.18784936T>GCA9316250COMPc.1874A>C (p.Asn625Thr)
c.1715A>C (p.Asn572Thr)
c.1775A>C (p.Asn592Thr)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.18784936T=CA2326524885COMPc.1874A= (p.Asn625=)
c.1715A= (p.Asn572=)
c.1775A= (p.Asn592=)
19g.18784937T>ACA404877946COMPc.1873A>T (p.Asn625Tyr)
c.1714A>T (p.Asn572Tyr)
c.1774A>T (p.Asn592Tyr)
19g.18784937T>CCA9316253COMPc.1873A>G (p.Asn625Asp)
c.1714A>G (p.Asn572Asp)
c.1774A>G (p.Asn592Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18784937T>GCA404877948COMPc.1873A>C (p.Asn625His)
c.1714A>C (p.Asn572His)
c.1774A>C (p.Asn592His)
19g.18784937T=CA2326524886COMPc.1873A= (p.Asn625=)
c.1714A= (p.Asn572=)
c.1774A= (p.Asn592=)
19g.18784937_18784938delCA2583621574COMPc.1872_1873del (p.Asn625ProfsTer?)
c.1713_1714del (p.Asn572ProfsTer?)
c.1773_1774del (p.Asn592ProfsTer?)
 gnomAD v4
19g.18784938C>ACA506052357COMPc.1872G>T (p.Ala624=)
c.1713G>T (p.Ala571=)
c.1773G>T (p.Ala591=)
19g.18784938C=CA2326524887COMPc.1872G= (p.Ala624=)
c.1713G= (p.Ala571=)
c.1773G= (p.Ala591=)
19g.18784938C>GCA506052358COMPc.1872G>C (p.Ala624=)
c.1713G>C (p.Ala571=)
c.1773G>C (p.Ala591=)
19g.18784938C>TCA9316254COMPc.1872G>A (p.Ala624=)
c.1713G>A (p.Ala571=)
c.1773G>A (p.Ala591=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784938dupCA9316252COMPc.1872dup (p.Asn625GlufsTer?)
c.1713dup (p.Asn572GlufsTer?)
c.1773dup (p.Asn592GlufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.18784939G>ACA9316256COMPc.1871C>T (p.Ala624Val)
c.1712C>T (p.Ala571Val)
c.1772C>T (p.Ala591Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784939G>CCA9316255COMPc.1871C>G (p.Ala624Gly)
c.1712C>G (p.Ala571Gly)
c.1772C>G (p.Ala591Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784939G=CA2326524888COMPc.1871C= (p.Ala624=)
c.1712C= (p.Ala571=)
c.1772C= (p.Ala591=)
19g.18784939G>TCA404877958COMPc.1871C>A (p.Ala624Glu)
c.1712C>A (p.Ala571Glu)
c.1772C>A (p.Ala591Glu)
19g.18784940C>ACA404877964COMPc.1870G>T (p.Ala624Ser)
c.1711G>T (p.Ala571Ser)
c.1771G>T (p.Ala591Ser)
19g.18784940C>GCA404877966COMPc.1870G>C (p.Ala624Pro)
c.1711G>C (p.Ala571Pro)
c.1771G>C (p.Ala591Pro)
19g.18784940C>TCA404877969COMPc.1870G>A (p.Ala624Thr)
c.1711G>A (p.Ala571Thr)
c.1771G>A (p.Ala591Thr)
 ClinVar dbSNP
19g.18784941_18784942insCCCCA2741617857COMPc.1870_1871insGGG (p.Gln623_Ala624insGly)
c.1711_1712insGGG (p.Gln570_Ala571insGly)
c.1771_1772insGGG (p.Gln590_Ala591insGly)
19g.18784941_18784942insCCCCCCA306253542COMPc.1870_1871insGGGGG (p.Ala624GlyfsTer19)
c.1711_1712insGGGGG (p.Ala571GlyfsTer19)
c.1771_1772insGGGGG (p.Ala591GlyfsTer19)
 dbSNP
19g.18784941C>ACA404877972COMPc.1869G>T (p.Gln623His)
c.1710G>T (p.Gln570His)
c.1770G>T (p.Gln590His)
19g.18784941C>GCA404877975COMPc.1869G>C (p.Gln623His)
c.1710G>C (p.Gln570His)
c.1770G>C (p.Gln590His)
19g.18784941C>TCA506052359COMPc.1869G>A (p.Gln623=)
c.1710G>A (p.Gln570=)
c.1770G>A (p.Gln590=)
19g.18784942T>ACA404877985COMPc.1868A>T (p.Gln623Leu)
c.1709A>T (p.Gln570Leu)
c.1769A>T (p.Gln590Leu)
19g.18784942T>CCA404877988COMPc.1868A>G (p.Gln623Arg)
c.1709A>G (p.Gln570Arg)
c.1769A>G (p.Gln590Arg)
19g.18784942T>GCA404877982COMPc.1868A>C (p.Gln623Pro)
c.1709A>C (p.Gln570Pro)
c.1769A>C (p.Gln590Pro)
 gnomAD v4
19g.18784943G>ACA404877991COMPc.1867C>T (p.Gln623Ter)
c.1708C>T (p.Gln570Ter)
c.1768C>T (p.Gln590Ter)
 gnomAD v4
19g.18784943G>CCA404877997COMPc.1867C>G (p.Gln623Glu)
c.1708C>G (p.Gln570Glu)
c.1768C>G (p.Gln590Glu)
19g.18784943G>TCA404877994COMPc.1867C>A (p.Gln623Lys)
c.1708C>A (p.Gln570Lys)
c.1768C>A (p.Gln590Lys)
19g.18784944C>ACA404878002COMPc.1866G>T (p.Trp622Cys)
c.1707G>T (p.Trp569Cys)
c.1767G>T (p.Trp589Cys)
19g.18784944C>GCA404878004COMPc.1866G>C (p.Trp622Cys)
c.1707G>C (p.Trp569Cys)
c.1767G>C (p.Trp589Cys)
19g.18784944C>TCA404878006COMPc.1866G>A (p.Trp622Ter)
c.1707G>A (p.Trp569Ter)
c.1767G>A (p.Trp589Ter)
19g.18784945C>ACA404878008COMPc.1865G>T (p.Trp622Leu)
c.1706G>T (p.Trp569Leu)
c.1766G>T (p.Trp589Leu)
19g.18784945C>GCA404878010COMPc.1865G>C (p.Trp622Ser)
c.1706G>C (p.Trp569Ser)
c.1766G>C (p.Trp589Ser)
19g.18784945C>TCA404878013COMPc.1865G>A (p.Trp622Ter)
c.1706G>A (p.Trp569Ter)
c.1766G>A (p.Trp589Ter)
19g.18784946A>CCA404878017COMPc.1864T>G (p.Trp622Gly)
c.1705T>G (p.Trp569Gly)
c.1765T>G (p.Trp589Gly)
19g.18784946A>GCA404878018COMPc.1864T>C (p.Trp622Arg)
c.1705T>C (p.Trp569Arg)
c.1765T>C (p.Trp589Arg)
19g.18784946A>TCA404878021COMPc.1864T>A (p.Trp622Arg)
c.1705T>A (p.Trp569Arg)
c.1765T>A (p.Trp589Arg)
19g.18784947A=CA2326524889COMPc.1863T= (p.Tyr621=)
c.1704T= (p.Tyr568=)
c.1764T= (p.Tyr588=)
19g.18784947A>CCA404878023COMPc.1863T>G (p.Tyr621Ter)
c.1704T>G (p.Tyr568Ter)
c.1764T>G (p.Tyr588Ter)
19g.18784947A>GCA506052360COMPc.1863T>C (p.Tyr621=)
c.1704T>C (p.Tyr568=)
c.1764T>C (p.Tyr588=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18784947A>TCA404878026COMPc.1863T>A (p.Tyr621Ter)
c.1704T>A (p.Tyr568Ter)
c.1764T>A (p.Tyr588Ter)

Number of alleles fetched