Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.185519097delCA2740469LIPHc.886+49del (n.886+49del)
c.784+49del (n.784+49del)
c.796+49del (n.796+49del)
c.757+49del (n.757+49del)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519097A=CA1426522452LIPHc.886+45T= (n.886+45T=)
c.784+45T= (n.784+45T=)
c.796+45T= (n.796+45T=)
c.757+45T= (n.757+45T=)
3g.185519097A>CCA903784022LIPHc.886+45T>G (n.886+45T>G)
c.784+45T>G (n.784+45T>G)
c.796+45T>G (n.796+45T>G)
c.757+45T>G (n.757+45T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.185519099T>ACA548796847LIPHc.886+43A>T (n.886+43A>T)
c.784+43A>T (n.784+43A>T)
c.796+43A>T (n.796+43A>T)
c.757+43A>T (n.757+43A>T)
 dbSNP gnomAD v2 gnomAD v4
3g.185519099T=CA1426522453LIPHc.886+43A= (n.886+43A=)
c.784+43A= (n.784+43A=)
c.796+43A= (n.796+43A=)
c.757+43A= (n.757+43A=)
3g.185519100A>GCA2577992871LIPHc.886+42T>C (n.886+42T>C)
c.784+42T>C (n.784+42T>C)
c.796+42T>C (n.796+42T>C)
c.757+42T>C (n.757+42T>C)
3g.185519100A>TCA2577992872LIPHc.886+42T>A (n.886+42T>A)
c.784+42T>A (n.784+42T>A)
c.796+42T>A (n.796+42T>A)
c.757+42T>A (n.757+42T>A)
 gnomAD v4
3g.185519101G>ACA548796848LIPHc.886+41C>T (n.886+41C>T)
c.784+41C>T (n.784+41C>T)
c.796+41C>T (n.796+41C>T)
c.757+41C>T (n.757+41C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.185519101G>CCA2668901431LIPHc.886+41C>G (n.886+41C>G)
c.784+41C>G (n.784+41C>G)
c.796+41C>G (n.796+41C>G)
c.757+41C>G (n.757+41C>G)
 gnomAD v4
3g.185519101G=CA1426522454LIPHc.886+41C= (n.886+41C=)
c.784+41C= (n.784+41C=)
c.796+41C= (n.796+41C=)
c.757+41C= (n.757+41C=)
3g.185519101G>TCA2668901432LIPHc.886+41C>A (n.886+41C>A)
c.784+41C>A (n.784+41C>A)
c.796+41C>A (n.796+41C>A)
c.757+41C>A (n.757+41C>A)
 gnomAD v4
3g.185519103T>CCA2668901433LIPHc.886+39A>G (n.886+39A>G)
c.784+39A>G (n.784+39A>G)
c.796+39A>G (n.796+39A>G)
c.757+39A>G (n.757+39A>G)
 gnomAD v4
3g.185519104C>ACA2740470LIPHc.886+38G>T (n.886+38G>T)
c.784+38G>T (n.784+38G>T)
c.796+38G>T (n.796+38G>T)
c.757+38G>T (n.757+38G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519104C=CA1426522455LIPHc.886+38G= (n.886+38G=)
c.784+38G= (n.784+38G=)
c.796+38G= (n.796+38G=)
c.757+38G= (n.757+38G=)
3g.185519105T>GCA89578912LIPHc.886+37A>C (n.886+37A>C)
c.784+37A>C (n.784+37A>C)
c.796+37A>C (n.796+37A>C)
c.757+37A>C (n.757+37A>C)
 dbSNP
3g.185519105T=CA1426522456LIPHc.886+37A= (n.886+37A=)
c.784+37A= (n.784+37A=)
c.796+37A= (n.796+37A=)
c.757+37A= (n.757+37A=)
3g.185519107T>CCA2668901434LIPHc.886+35A>G (n.886+35A>G)
c.784+35A>G (n.784+35A>G)
c.796+35A>G (n.796+35A>G)
c.757+35A>G (n.757+35A>G)
 gnomAD v4
3g.185519108G>TCA2668901435LIPHc.886+34C>A (n.886+34C>A)
c.784+34C>A (n.784+34C>A)
c.796+34C>A (n.796+34C>A)
c.757+34C>A (n.757+34C>A)
 gnomAD v4
3g.185519110G=CA1426522457LIPHc.886+32C= (n.886+32C=)
c.784+32C= (n.784+32C=)
c.796+32C= (n.796+32C=)
c.757+32C= (n.757+32C=)
3g.185519110G>TCA1426522458LIPHc.886+32C>A (n.886+32C>A)
c.784+32C>A (n.784+32C>A)
c.796+32C>A (n.796+32C>A)
c.757+32C>A (n.757+32C>A)
 dbSNP gnomAD v4
3g.185519111A>GCA2668901436LIPHc.886+31T>C (n.886+31T>C)
c.784+31T>C (n.784+31T>C)
c.796+31T>C (n.796+31T>C)
c.757+31T>C (n.757+31T>C)
 gnomAD v4
3g.185519112A>GCA2668901437LIPHc.886+30T>C (n.886+30T>C)
c.784+30T>C (n.784+30T>C)
c.796+30T>C (n.796+30T>C)
c.757+30T>C (n.757+30T>C)
 gnomAD v4
3g.185519114C>ACA2668901438LIPHc.886+28G>T (n.886+28G>T)
c.784+28G>T (n.784+28G>T)
c.796+28G>T (n.796+28G>T)
c.757+28G>T (n.757+28G>T)
 gnomAD v4
3g.185519114C>TCA2705007475LIPHc.886+28G>A (n.886+28G>A)
c.784+28G>A (n.784+28G>A)
c.796+28G>A (n.796+28G>A)
c.757+28G>A (n.757+28G>A)
 dbSNP
3g.185519115A=CA1426522459LIPHc.886+27T= (n.886+27T=)
c.784+27T= (n.784+27T=)
c.796+27T= (n.796+27T=)
c.757+27T= (n.757+27T=)
3g.185519115A>GCA903784043LIPHc.886+27T>C (n.886+27T>C)
c.784+27T>C (n.784+27T>C)
c.796+27T>C (n.796+27T>C)
c.757+27T>C (n.757+27T>C)
 dbSNP
3g.185519118G>ACA2668901439LIPHc.886+24C>T (n.886+24C>T)
c.784+24C>T (n.784+24C>T)
c.796+24C>T (n.796+24C>T)
c.757+24C>T (n.757+24C>T)
 gnomAD v4
3g.185519126T>GCA2740471LIPHc.886+16A>C (n.886+16A>C)
c.784+16A>C (n.784+16A>C)
c.796+16A>C (n.796+16A>C)
c.757+16A>C (n.757+16A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519126T=CA1426522460LIPHc.886+16A= (n.886+16A=)
c.784+16A= (n.784+16A=)
c.796+16A= (n.796+16A=)
c.757+16A= (n.757+16A=)
3g.185519128C>TCA2759750249LIPHc.886+14G>A (n.886+14G>A)
c.784+14G>A (n.784+14G>A)
c.796+14G>A (n.796+14G>A)
c.757+14G>A (n.757+14G>A)
3g.185519129T>CCA2759750252LIPHc.886+13A>G (n.886+13A>G)
c.784+13A>G (n.784+13A>G)
c.796+13A>G (n.796+13A>G)
c.757+13A>G (n.757+13A>G)
3g.185519130G>ACA2521778158LIPHc.886+12C>T (n.886+12C>T)
c.784+12C>T (n.784+12C>T)
c.796+12C>T (n.796+12C>T)
c.757+12C>T (n.757+12C>T)
 gnomAD v4
3g.185519130G>TCA2668901440LIPHc.886+12C>A (n.886+12C>A)
c.784+12C>A (n.784+12C>A)
c.796+12C>A (n.796+12C>A)
c.757+12C>A (n.757+12C>A)
 gnomAD v4
3g.185519131G>ACA89578915LIPHc.886+11C>T (n.886+11C>T)
c.784+11C>T (n.784+11C>T)
c.796+11C>T (n.796+11C>T)
c.757+11C>T (n.757+11C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.185519131G=CA1426522461LIPHc.886+11C= (n.886+11C=)
c.784+11C= (n.784+11C=)
c.796+11C= (n.796+11C=)
c.757+11C= (n.757+11C=)
3g.185519132T>CCA2740472LIPHc.886+10A>G (n.886+10A>G)
c.784+10A>G (n.784+10A>G)
c.796+10A>G (n.796+10A>G)
c.757+10A>G (n.757+10A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519132T=CA1426522462LIPHc.886+10A= (n.886+10A=)
c.784+10A= (n.784+10A=)
c.796+10A= (n.796+10A=)
c.757+10A= (n.757+10A=)
3g.185519133T>ACA2740473LIPHc.886+9A>T (n.886+9A>T)
c.784+9A>T (n.784+9A>T)
c.796+9A>T (n.796+9A>T)
c.757+9A>T (n.757+9A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519133T=CA1426522463LIPHc.886+9A= (n.886+9A=)
c.784+9A= (n.784+9A=)
c.796+9A= (n.796+9A=)
c.757+9A= (n.757+9A=)
3g.185519134A>GCA2705007477LIPHc.886+8T>C (n.886+8T>C)
c.784+8T>C (n.784+8T>C)
c.796+8T>C (n.796+8T>C)
c.757+8T>C (n.757+8T>C)
 dbSNP
3g.185519137C>ACA548796849LIPHc.886+5G>T (n.886+5G>T)
c.784+5G>T (n.784+5G>T)
c.796+5G>T (n.796+5G>T)
c.757+5G>T (n.757+5G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.185519137C=CA1426522464LIPHc.886+5G= (n.886+5G=)
c.784+5G= (n.784+5G=)
c.796+5G= (n.796+5G=)
c.757+5G= (n.757+5G=)
3g.185519137C>TCA548796850LIPHc.886+5G>A (n.886+5G>A)
c.784+5G>A (n.784+5G>A)
c.796+5G>A (n.796+5G>A)
c.757+5G>A (n.757+5G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.185519139T>CCA2740474LIPHc.886+3A>G (n.886+3A>G)
c.784+3A>G (n.784+3A>G)
c.796+3A>G (n.796+3A>G)
c.757+3A>G (n.757+3A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519139T=CA1426522465LIPHc.886+3A= (n.886+3A=)
c.784+3A= (n.784+3A=)
c.796+3A= (n.796+3A=)
c.757+3A= (n.757+3A=)
3g.185519140A>CCA355687835LIPHc.886+2T>G (n.886+2T>G)
c.784+2T>G (n.784+2T>G)
c.796+2T>G (n.796+2T>G)
c.757+2T>G (n.757+2T>G)
3g.185519140A>GCA355687836LIPHc.886+2T>C (n.886+2T>C)
c.784+2T>C (n.784+2T>C)
c.796+2T>C (n.796+2T>C)
c.757+2T>C (n.757+2T>C)
3g.185519140A>TCA355687837LIPHc.886+2T>A (n.886+2T>A)
c.784+2T>A (n.784+2T>A)
c.796+2T>A (n.796+2T>A)
c.757+2T>A (n.757+2T>A)
3g.185519141C>ACA355687839LIPHc.886+1G>T (n.886+1G>T)
c.784+1G>T (n.784+1G>T)
c.796+1G>T (n.796+1G>T)
c.757+1G>T (n.757+1G>T)
3g.185519141C=CA1426522466LIPHc.886+1G= (n.886+1G=)
c.784+1G= (n.784+1G=)
c.796+1G= (n.796+1G=)
c.757+1G= (n.757+1G=)
3g.185519141C>GCA355687838LIPHc.886+1G>C (n.886+1G>C)
c.784+1G>C (n.784+1G>C)
c.796+1G>C (n.796+1G>C)
c.757+1G>C (n.757+1G>C)
3g.185519141C>TCA89578924LIPHc.886+1G>A (n.886+1G>A)
c.784+1G>A (n.784+1G>A)
c.796+1G>A (n.796+1G>A)
c.757+1G>A (n.757+1G>A)
 dbSNP
3g.185519142C>ACA355687840LIPHc.886G>T (p.Gly296Cys)
c.784G>T (p.Gly262Cys)
c.796G>T (p.Gly266Cys)
c.757G>T (p.Gly253Cys)
 gnomAD v4
3g.185519142C=CA1426522467LIPHc.886G= (p.Gly296=)
c.784G= (p.Gly262=)
c.796G= (p.Gly266=)
c.757G= (p.Gly253=)
3g.185519142C>GCA2740475LIPHc.886G>C (p.Gly296Arg)
c.784G>C (p.Gly262Arg)
c.796G>C (p.Gly266Arg)
c.757G>C (p.Gly253Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519142C>TCA355687842LIPHc.886G>A (p.Gly296Ser)
c.784G>A (p.Gly262Ser)
c.796G>A (p.Gly266Ser)
c.757G>A (p.Gly253Ser)
 gnomAD v4
3g.185519143C>ACA437347126LIPHc.885G>T (p.Leu295=)
c.783G>T (p.Leu261=)
c.795G>T (p.Leu265=)
c.756G>T (p.Leu252=)
3g.185519143C=CA1426522468LIPHc.885G= (p.Leu295=)
c.783G= (p.Leu261=)
c.795G= (p.Leu265=)
c.756G= (p.Leu252=)
3g.185519143C>GCA437347127LIPHc.885G>C (p.Leu295=)
c.783G>C (p.Leu261=)
c.795G>C (p.Leu265=)
c.756G>C (p.Leu252=)
3g.185519143C>TCA89578929LIPHc.885G>A (p.Leu295=)
c.783G>A (p.Leu261=)
c.795G>A (p.Leu265=)
c.756G>A (p.Leu252=)
 dbSNP gnomAD v2 gnomAD v4
3g.185519144A>CCA355687847LIPHc.884T>G (p.Leu295Arg)
c.782T>G (p.Leu261Arg)
c.256T>G
c.794T>G (p.Leu265Arg)
c.755T>G (p.Leu252Arg)
 gnomAD v4
3g.185519144A>GCA355687850LIPHc.884T>C (p.Leu295Pro)
c.782T>C (p.Leu261Pro)
c.256T>C
c.794T>C (p.Leu265Pro)
c.755T>C (p.Leu252Pro)
3g.185519144A>TCA355687852LIPHc.884T>A (p.Leu295Gln)
c.782T>A (p.Leu261Gln)
c.256T>A
c.794T>A (p.Leu265Gln)
c.755T>A (p.Leu252Gln)
3g.185519145G>ACA437347137LIPHc.883C>T (p.Leu295=)
c.781C>T (p.Leu261=)
c.255C>T
c.793C>T (p.Leu265=)
c.754C>T (p.Leu252=)
3g.185519145G>CCA355687855LIPHc.883C>G (p.Leu295Val)
c.781C>G (p.Leu261Val)
c.255C>G
c.793C>G (p.Leu265Val)
c.754C>G (p.Leu252Val)
3g.185519145G>TCA355687857LIPHc.883C>A (p.Leu295Met)
c.781C>A (p.Leu261Met)
c.255C>A
c.793C>A (p.Leu265Met)
c.754C>A (p.Leu252Met)
3g.185519146A>CCA437347143LIPHc.882T>G (p.Leu294=)
c.780T>G (p.Leu260=)
c.254T>G
c.792T>G (p.Leu264=)
c.753T>G (p.Leu251=)
3g.185519146A>GCA437347145LIPHc.882T>C (p.Leu294=)
c.780T>C (p.Leu260=)
c.254T>C
c.792T>C (p.Leu264=)
c.753T>C (p.Leu251=)
3g.185519146A>TCA437347147LIPHc.882T>A (p.Leu294=)
c.780T>A (p.Leu260=)
c.254T>A
c.792T>A (p.Leu264=)
c.753T>A (p.Leu251=)
3g.185519147A>CCA355687860LIPHc.881T>G (p.Leu294Arg)
c.779T>G (p.Leu260Arg)
c.253T>G
c.791T>G (p.Leu264Arg)
c.752T>G (p.Leu251Arg)
3g.185519147A>GCA355687862LIPHc.881T>C (p.Leu294Pro)
c.779T>C (p.Leu260Pro)
c.253T>C
c.791T>C (p.Leu264Pro)
c.752T>C (p.Leu251Pro)
3g.185519147A>TCA355687864LIPHc.881T>A (p.Leu294His)
c.779T>A (p.Leu260His)
c.253T>A
c.791T>A (p.Leu264His)
c.752T>A (p.Leu251His)
3g.185519148G>ACA355687866LIPHc.880C>T (p.Leu294Phe)
c.778C>T (p.Leu260Phe)
c.252C>T
c.790C>T (p.Leu264Phe)
c.751C>T (p.Leu251Phe)
 COSMIC
3g.185519148G>CCA355687869LIPHc.880C>G (p.Leu294Val)
c.778C>G (p.Leu260Val)
c.252C>G
c.790C>G (p.Leu264Val)
c.751C>G (p.Leu251Val)
3g.185519148G>TCA355687871LIPHc.880C>A (p.Leu294Ile)
c.778C>A (p.Leu260Ile)
c.252C>A
c.790C>A (p.Leu264Ile)
c.751C>A (p.Leu251Ile)
3g.185519149G>ACA2740476LIPHc.879C>T (p.Pro293=)
c.777C>T (p.Pro259=)
c.251C>T
c.789C>T (p.Pro263=)
c.750C>T (p.Pro250=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519149G>CCA437347160LIPHc.879C>G (p.Pro293=)
c.777C>G (p.Pro259=)
c.251C>G
c.789C>G (p.Pro263=)
c.750C>G (p.Pro250=)
3g.185519149G=CA1426522469LIPHc.879C= (p.Pro293=)
c.777C= (p.Pro259=)
c.251C=
c.789C= (p.Pro263=)
c.750C= (p.Pro250=)
3g.185519149G>TCA437347156LIPHc.879C>A (p.Pro293=)
c.777C>A (p.Pro259=)
c.251C>A
c.789C>A (p.Pro263=)
c.750C>A (p.Pro250=)
3g.185519149_185519150delinsAACA645536793LIPHc.878_879delinsTT (p.Pro293Leu)
c.776_777delinsTT (p.Pro259Leu)
c.250_251delinsTT
c.788_789delinsTT (p.Pro263Leu)
c.749_750delinsTT (p.Pro250Leu)
 COSMIC
3g.185519150G>ACA355687880LIPHc.878C>T (p.Pro293Leu)
c.776C>T (p.Pro259Leu)
c.250C>T
c.788C>T (p.Pro263Leu)
c.749C>T (p.Pro250Leu)
3g.185519150G>CCA355687876LIPHc.878C>G (p.Pro293Arg)
c.776C>G (p.Pro259Arg)
c.250C>G
c.788C>G (p.Pro263Arg)
c.749C>G (p.Pro250Arg)
3g.185519150G>TCA355687878LIPHc.878C>A (p.Pro293His)
c.776C>A (p.Pro259His)
c.250C>A
c.788C>A (p.Pro263His)
c.749C>A (p.Pro250His)
3g.185519151G>ACA2740477LIPHc.877C>T (p.Pro293Ser)
c.775C>T (p.Pro259Ser)
c.249C>T
c.787C>T (p.Pro263Ser)
c.748C>T (p.Pro250Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519151G>CCA355687882LIPHc.877C>G (p.Pro293Ala)
c.775C>G (p.Pro259Ala)
c.249C>G
c.787C>G (p.Pro263Ala)
c.748C>G (p.Pro250Ala)
 gnomAD v4
3g.185519151G=CA1426522470LIPHc.877C= (p.Pro293=)
c.775C= (p.Pro259=)
c.249C=
c.787C= (p.Pro263=)
c.748C= (p.Pro250=)
3g.185519151G>TCA355687884LIPHc.877C>A (p.Pro293Thr)
c.775C>A (p.Pro259Thr)
c.249C>A
c.787C>A (p.Pro263Thr)
c.748C>A (p.Pro250Thr)
3g.185519152A>CCA355687886LIPHc.876T>G (p.Cys292Trp)
c.774T>G (p.Cys258Trp)
c.248T>G
c.786T>G (p.Cys262Trp)
c.747T>G (p.Cys249Trp)
3g.185519152A>GCA437347165LIPHc.876T>C (p.Cys292=)
c.774T>C (p.Cys258=)
c.248T>C
c.786T>C (p.Cys262=)
c.747T>C (p.Cys249=)
3g.185519152A>TCA355687889LIPHc.876T>A (p.Cys292Ter)
c.774T>A (p.Cys258Ter)
c.248T>A
c.786T>A (p.Cys262Ter)
c.747T>A (p.Cys249Ter)
 gnomAD v4
3g.185519153C>ACA355687892LIPHc.875G>T (p.Cys292Phe)
c.773G>T (p.Cys258Phe)
c.247G>T
c.785G>T (p.Cys262Phe)
c.746G>T (p.Cys249Phe)
3g.185519153C>GCA355687894LIPHc.875G>C (p.Cys292Ser)
c.773G>C (p.Cys258Ser)
c.247G>C
c.785G>C (p.Cys262Ser)
c.746G>C (p.Cys249Ser)
3g.185519153C>TCA355687896LIPHc.875G>A (p.Cys292Tyr)
c.773G>A (p.Cys258Tyr)
c.247G>A
c.785G>A (p.Cys262Tyr)
c.746G>A (p.Cys249Tyr)
 gnomAD v4
3g.185519154A>CCA355687899LIPHc.874T>G (p.Cys292Gly)
c.772T>G (p.Cys258Gly)
c.246T>G
c.784T>G (p.Cys262Gly)
c.745T>G (p.Cys249Gly)
3g.185519154A>GCA355687901LIPHc.874T>C (p.Cys292Arg)
c.772T>C (p.Cys258Arg)
c.246T>C
c.784T>C (p.Cys262Arg)
c.745T>C (p.Cys249Arg)
3g.185519154A>TCA355687903LIPHc.874T>A (p.Cys292Ser)
c.772T>A (p.Cys258Ser)
c.246T>A
c.784T>A (p.Cys262Ser)
c.745T>A (p.Cys249Ser)
3g.185519155G>ACA437347170LIPHc.873C>T (p.Ser291=)
c.771C>T (p.Ser257=)
c.245C>T
c.783C>T (p.Ser261=)
c.744C>T (p.Ser248=)
3g.185519155G>CCA437347171LIPHc.873C>G (p.Ser291=)
c.771C>G (p.Ser257=)
c.245C>G
c.783C>G (p.Ser261=)
c.744C>G (p.Ser248=)
3g.185519155G>TCA437347172LIPHc.873C>A (p.Ser291=)
c.771C>A (p.Ser257=)
c.245C>A
c.783C>A (p.Ser261=)
c.744C>A (p.Ser248=)
3g.185519156G>ACA355687909LIPHc.872C>T (p.Ser291Phe)
c.770C>T (p.Ser257Phe)
c.244C>T
c.782C>T (p.Ser261Phe)
c.743C>T (p.Ser248Phe)
3g.185519156G>CCA355687908LIPHc.872C>G (p.Ser291Cys)
c.770C>G (p.Ser257Cys)
c.244C>G
c.782C>G (p.Ser261Cys)
c.743C>G (p.Ser248Cys)
 gnomAD v4
3g.185519156G>TCA355687906LIPHc.872C>A (p.Ser291Tyr)
c.770C>A (p.Ser257Tyr)
c.244C>A
c.782C>A (p.Ser261Tyr)
c.743C>A (p.Ser248Tyr)
3g.185519157A>CCA355687912LIPHc.871T>G (p.Ser291Ala)
c.769T>G (p.Ser257Ala)
c.243T>G
c.781T>G (p.Ser261Ala)
c.742T>G (p.Ser248Ala)
3g.185519157A>GCA355687914LIPHc.871T>C (p.Ser291Pro)
c.769T>C (p.Ser257Pro)
c.243T>C
c.781T>C (p.Ser261Pro)
c.742T>C (p.Ser248Pro)
3g.185519157A>TCA355687916LIPHc.871T>A (p.Ser291Thr)
c.769T>A (p.Ser257Thr)
c.243T>A
c.781T>A (p.Ser261Thr)
c.742T>A (p.Ser248Thr)
3g.185519158C>ACA355687919LIPHc.870G>T (p.Glu290Asp)
c.768G>T (p.Glu256Asp)
c.242G>T
c.780G>T (p.Glu260Asp)
c.741G>T (p.Glu247Asp)
3g.185519158C=CA1426522471LIPHc.870G= (p.Glu290=)
c.768G= (p.Glu256=)
c.242G=
c.780G= (p.Glu260=)
c.741G= (p.Glu247=)
3g.185519158C>GCA2740478LIPHc.870G>C (p.Glu290Asp)
c.768G>C (p.Glu256Asp)
c.242G>C
c.780G>C (p.Glu260Asp)
c.741G>C (p.Glu247Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519158C>TCA437347175LIPHc.870G>A (p.Glu290=)
c.768G>A (p.Glu256=)
c.242G>A
c.780G>A (p.Glu260=)
c.741G>A (p.Glu247=)
3g.185519159delCA437347177LIPHc.869del (p.Glu290GlyfsTer17)
c.767del (p.Glu256GlyfsTer17)
c.241del
c.779del (p.Glu260GlyfsTer17)
c.740del (p.Glu247GlyfsTer17)
 COSMIC
3g.185519159T>ACA355687927LIPHc.869A>T (p.Glu290Val)
c.767A>T (p.Glu256Val)
c.241A>T
c.779A>T (p.Glu260Val)
c.740A>T (p.Glu247Val)
3g.185519159T>CCA2740479LIPHc.869A>G (p.Glu290Gly)
c.767A>G (p.Glu256Gly)
c.241A>G
c.779A>G (p.Glu260Gly)
c.740A>G (p.Glu247Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.185519159T>GCA355687923LIPHc.869A>C (p.Glu290Ala)
c.767A>C (p.Glu256Ala)
c.241A>C
c.779A>C (p.Glu260Ala)
c.740A>C (p.Glu247Ala)
3g.185519159T=CA1426522472LIPHc.869A= (p.Glu290=)
c.767A= (p.Glu256=)
c.241A=
c.779A= (p.Glu260=)
c.740A= (p.Glu247=)
3g.185519160C>ACA355687930LIPHc.868G>T (p.Glu290Ter)
c.766G>T (p.Glu256Ter)
c.240G>T
c.778G>T (p.Glu260Ter)
c.739G>T (p.Glu247Ter)
3g.185519160C>GCA355687932LIPHc.868G>C (p.Glu290Gln)
c.766G>C (p.Glu256Gln)
c.240G>C
c.778G>C (p.Glu260Gln)
c.739G>C (p.Glu247Gln)
3g.185519160C>TCA355687934LIPHc.868G>A (p.Glu290Lys)
c.766G>A (p.Glu256Lys)
c.240G>A
c.778G>A (p.Glu260Lys)
c.739G>A (p.Glu247Lys)
3g.185519160_185519162delinsCTTCA1426522473LIPHc.866_868delinsAAG (p.Lys289=)
c.764_766delinsAAG (p.Lys255=)
c.238_240delinsAAG
c.776_778delinsAAG (p.Lys259=)
c.737_739delinsAAG (p.Lys246=)
3g.185519161T>ACA355687937LIPHc.867A>T (p.Lys289Asn)
c.765A>T (p.Lys255Asn)
c.239A>T
c.777A>T (p.Lys259Asn)
c.738A>T (p.Lys246Asn)
3g.185519161T>CCA437347185LIPHc.867A>G (p.Lys289=)
c.765A>G (p.Lys255=)
c.239A>G
c.777A>G (p.Lys259=)
c.738A>G (p.Lys246=)
 dbSNP
3g.185519161T>GCA355687940LIPHc.867A>C (p.Lys289Asn)
c.765A>C (p.Lys255Asn)
c.239A>C
c.777A>C (p.Lys259Asn)
c.738A>C (p.Lys246Asn)
3g.185519161T=CA1426522474LIPHc.867A= (p.Lys289=)
c.765A= (p.Lys255=)
c.239A=
c.777A= (p.Lys259=)
c.738A= (p.Lys246=)
3g.185519165delCA89578940LIPHc.867del (p.Glu290SerfsTer17)
c.765del (p.Glu256SerfsTer17)
c.239del
c.777del (p.Glu260SerfsTer17)
c.738del (p.Glu247SerfsTer17)
 dbSNP gnomAD v3 gnomAD v4
3g.185519164_185519165delCA2740480LIPHc.866_867del (p.Lys289ArgfsTer11)
c.764_765del (p.Lys255ArgfsTer11)
c.238_239del
c.776_777del (p.Lys259ArgfsTer11)
c.737_738del (p.Lys246ArgfsTer11)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519162T>ACA355687944LIPHc.866A>T (p.Lys289Ile)
c.764A>T (p.Lys255Ile)
c.238A>T
c.776A>T (p.Lys259Ile)
c.737A>T (p.Lys246Ile)
3g.185519162T>CCA355687948LIPHc.866A>G (p.Lys289Arg)
c.764A>G (p.Lys255Arg)
c.238A>G
c.776A>G (p.Lys259Arg)
c.737A>G (p.Lys246Arg)
3g.185519162T>GCA355687946LIPHc.866A>C (p.Lys289Thr)
c.764A>C (p.Lys255Thr)
c.238A>C
c.776A>C (p.Lys259Thr)
c.737A>C (p.Lys246Thr)
3g.185519163T>ACA355687950LIPHc.865A>T (p.Lys289Ter)
c.763A>T (p.Lys255Ter)
c.237A>T
c.775A>T (p.Lys259Ter)
c.736A>T (p.Lys246Ter)
3g.185519163T>CCA355687952LIPHc.865A>G (p.Lys289Glu)
c.763A>G (p.Lys255Glu)
c.237A>G
c.775A>G (p.Lys259Glu)
c.736A>G (p.Lys246Glu)
3g.185519163T>GCA355687955LIPHc.865A>C (p.Lys289Gln)
c.763A>C (p.Lys255Gln)
c.237A>C
c.775A>C (p.Lys259Gln)
c.736A>C (p.Lys246Gln)
3g.185519164T>ACA355687958LIPHc.864A>T (p.Gln288His)
c.762A>T (p.Gln254His)
c.236A>T
c.774A>T (p.Gln258His)
c.735A>T (p.Gln245His)
3g.185519164T>CCA437347190LIPHc.864A>G (p.Gln288=)
c.762A>G (p.Gln254=)
c.236A>G
c.774A>G (p.Gln258=)
c.735A>G (p.Gln245=)
3g.185519164T>GCA355687960LIPHc.864A>C (p.Gln288His)
c.762A>C (p.Gln254His)
c.236A>C
c.774A>C (p.Gln258His)
c.735A>C (p.Gln245His)
3g.185519165T>ACA2740481LIPHc.863A>T (p.Gln288Leu)
c.761A>T (p.Gln254Leu)
c.235A>T
c.773A>T (p.Gln258Leu)
c.734A>T (p.Gln245Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519165T>CCA355687963LIPHc.863A>G (p.Gln288Arg)
c.761A>G (p.Gln254Arg)
c.235A>G
c.773A>G (p.Gln258Arg)
c.734A>G (p.Gln245Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.185519165T>GCA355687965LIPHc.863A>C (p.Gln288Pro)
c.761A>C (p.Gln254Pro)
c.235A>C
c.773A>C (p.Gln258Pro)
c.734A>C (p.Gln245Pro)
3g.185519165T=CA1426522475LIPHc.863A= (p.Gln288=)
c.761A= (p.Gln254=)
c.235A=
c.773A= (p.Gln258=)
c.734A= (p.Gln245=)
3g.185519166G>ACA2740482LIPHc.862C>T (p.Gln288Ter)
c.760C>T (p.Gln254Ter)
c.234C>T
c.772C>T (p.Gln258Ter)
c.733C>T (p.Gln245Ter)
 dbSNP ExAC
3g.185519166G>CCA355687969LIPHc.862C>G (p.Gln288Glu)
c.760C>G (p.Gln254Glu)
c.234C>G
c.772C>G (p.Gln258Glu)
c.733C>G (p.Gln245Glu)
3g.185519166G=CA1426522476LIPHc.862C= (p.Gln288=)
c.760C= (p.Gln254=)
c.234C=
c.772C= (p.Gln258=)
c.733C= (p.Gln245=)
3g.185519166G>TCA355687971LIPHc.862C>A (p.Gln288Lys)
c.760C>A (p.Gln254Lys)
c.234C>A
c.772C>A (p.Gln258Lys)
c.733C>A (p.Gln245Lys)
3g.185519167T>ACA437347194LIPHc.861A>T (p.Ser287=)
c.759A>T (p.Ser253=)
c.233A>T
c.771A>T (p.Ser257=)
c.732A>T (p.Ser244=)
3g.185519167T>CCA437347195LIPHc.861A>G (p.Ser287=)
c.759A>G (p.Ser253=)
c.233A>G
c.771A>G (p.Ser257=)
c.732A>G (p.Ser244=)
3g.185519167T>GCA437347198LIPHc.861A>C (p.Ser287=)
c.759A>C (p.Ser253=)
c.233A>C
c.771A>C (p.Ser257=)
c.732A>C (p.Ser244=)
3g.185519168G>ACA355687977LIPHc.860C>T (p.Ser287Leu)
c.758C>T (p.Ser253Leu)
c.232C>T
c.770C>T (p.Ser257Leu)
c.731C>T (p.Ser244Leu)
3g.185519168G>CCA355687979LIPHc.860C>G (p.Ser287Ter)
c.758C>G (p.Ser253Ter)
c.232C>G
c.770C>G (p.Ser257Ter)
c.731C>G (p.Ser244Ter)
3g.185519168G>TCA355687975LIPHc.860C>A (p.Ser287Ter)
c.758C>A (p.Ser253Ter)
c.232C>A
c.770C>A (p.Ser257Ter)
c.731C>A (p.Ser244Ter)
3g.185519169A>CCA355687984LIPHc.859T>G (p.Ser287Ala)
c.757T>G (p.Ser253Ala)
c.231T>G
c.769T>G (p.Ser257Ala)
c.730T>G (p.Ser244Ala)
3g.185519169A>GCA355687982LIPHc.859T>C (p.Ser287Pro)
c.757T>C (p.Ser253Pro)
c.231T>C
c.769T>C (p.Ser257Pro)
c.730T>C (p.Ser244Pro)
3g.185519169A>TCA355687985LIPHc.859T>A (p.Ser287Thr)
c.757T>A (p.Ser253Thr)
c.231T>A
c.769T>A (p.Ser257Thr)
c.730T>A (p.Ser244Thr)
3g.185519170C>ACA437347207LIPHc.858G>T (p.Thr286=)
c.756G>T (p.Thr252=)
c.230G>T
c.768G>T (p.Thr256=)
c.729G>T (p.Thr243=)
3g.185519170C=CA1426522477LIPHc.858G= (p.Thr286=)
c.756G= (p.Thr252=)
c.230G=
c.768G= (p.Thr256=)
c.729G= (p.Thr243=)
3g.185519170C>GCA437347208LIPHc.858G>C (p.Thr286=)
c.756G>C (p.Thr252=)
c.230G>C
c.768G>C (p.Thr256=)
c.729G>C (p.Thr243=)
3g.185519170C>TCA2740483LIPHc.858G>A (p.Thr286=)
c.756G>A (p.Thr252=)
c.230G>A
c.768G>A (p.Thr256=)
c.729G>A (p.Thr243=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519171G>ACA2740484LIPHc.857C>T (p.Thr286Met)
c.755C>T (p.Thr252Met)
c.229C>T
c.767C>T (p.Thr256Met)
c.728C>T (p.Thr243Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519171G>CCA355687992LIPHc.857C>G (p.Thr286Arg)
c.755C>G (p.Thr252Arg)
c.229C>G
c.767C>G (p.Thr256Arg)
c.728C>G (p.Thr243Arg)
3g.185519171G=CA1426522478LIPHc.857C= (p.Thr286=)
c.755C= (p.Thr252=)
c.229C=
c.767C= (p.Thr256=)
c.728C= (p.Thr243=)
3g.185519171G>TCA355687994LIPHc.857C>A (p.Thr286Lys)
c.755C>A (p.Thr252Lys)
c.229C>A
c.767C>A (p.Thr256Lys)
c.728C>A (p.Thr243Lys)
3g.185519172T>ACA355687997LIPHc.856A>T (p.Thr286Ser)
c.754A>T (p.Thr252Ser)
c.228A>T
c.766A>T (p.Thr256Ser)
c.727A>T (p.Thr243Ser)
3g.185519172T>CCA355687999LIPHc.856A>G (p.Thr286Ala)
c.754A>G (p.Thr252Ala)
c.228A>G
c.766A>G (p.Thr256Ala)
c.727A>G (p.Thr243Ala)
3g.185519172T>GCA355688001LIPHc.856A>C (p.Thr286Pro)
c.754A>C (p.Thr252Pro)
c.228A>C
c.766A>C (p.Thr256Pro)
c.727A>C (p.Thr243Pro)
3g.185519173G>ACA437347212LIPHc.855C>T (p.Gly285=)
c.753C>T (p.Gly251=)
c.227C>T
c.765C>T (p.Gly255=)
c.726C>T (p.Gly242=)
 gnomAD v4
3g.185519173G>CCA437347213LIPHc.855C>G (p.Gly285=)
c.753C>G (p.Gly251=)
c.227C>G
c.765C>G (p.Gly255=)
c.726C>G (p.Gly242=)
3g.185519173G>TCA437347214LIPHc.855C>A (p.Gly285=)
c.753C>A (p.Gly251=)
c.227C>A
c.765C>A (p.Gly255=)
c.726C>A (p.Gly242=)
3g.185519174C>ACA355688003LIPHc.854G>T (p.Gly285Val)
c.752G>T (p.Gly251Val)
c.226G>T
c.764G>T (p.Gly255Val)
c.725G>T (p.Gly242Val)
 dbSNP gnomAD v2 gnomAD v4
3g.185519174C=CA1426522479LIPHc.854G= (p.Gly285=)
c.752G= (p.Gly251=)
c.226G=
c.764G= (p.Gly255=)
c.725G= (p.Gly242=)
3g.185519174C>GCA355688004LIPHc.854G>C (p.Gly285Ala)
c.752G>C (p.Gly251Ala)
c.226G>C
c.764G>C (p.Gly255Ala)
c.725G>C (p.Gly242Ala)
3g.185519174C>TCA355688007LIPHc.854G>A (p.Gly285Asp)
c.752G>A (p.Gly251Asp)
c.226G>A
c.764G>A (p.Gly255Asp)
c.725G>A (p.Gly242Asp)
 COSMIC
3g.185519175C>ACA355688010LIPHc.853G>T (p.Gly285Cys)
c.751G>T (p.Gly251Cys)
c.225G>T
c.763G>T (p.Gly255Cys)
c.724G>T (p.Gly242Cys)
3g.185519175C=CA1426522480LIPHc.853G= (p.Gly285=)
c.751G= (p.Gly251=)
c.225G=
c.763G= (p.Gly255=)
c.724G= (p.Gly242=)
3g.185519175C>GCA355688012LIPHc.853G>C (p.Gly285Arg)
c.751G>C (p.Gly251Arg)
c.225G>C
c.763G>C (p.Gly255Arg)
c.724G>C (p.Gly242Arg)
 gnomAD v4
3g.185519175C>TCA89578947LIPHc.853G>A (p.Gly285Ser)
c.751G>A (p.Gly251Ser)
c.225G>A
c.763G>A (p.Gly255Ser)
c.724G>A (p.Gly242Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.185519176G>ACA2740485LIPHc.852C>T (p.Cys284=)
c.750C>T (p.Cys250=)
c.224C>T
c.762C>T (p.Cys254=)
c.723C>T (p.Cys241=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519176G>CCA355688019LIPHc.852C>G (p.Cys284Trp)
c.750C>G (p.Cys250Trp)
c.224C>G
c.762C>G (p.Cys254Trp)
c.723C>G (p.Cys241Trp)
3g.185519176G=CA1426522481LIPHc.852C= (p.Cys284=)
c.750C= (p.Cys250=)
c.224C=
c.762C= (p.Cys254=)
c.723C= (p.Cys241=)
3g.185519176G>TCA355688017LIPHc.852C>A (p.Cys284Ter)
c.750C>A (p.Cys250Ter)
c.224C>A
c.762C>A (p.Cys254Ter)
c.723C>A (p.Cys241Ter)
3g.185519177C>ACA355688022LIPHc.851G>T (p.Cys284Phe)
c.749G>T (p.Cys250Phe)
c.223G>T
c.761G>T (p.Cys254Phe)
c.722G>T (p.Cys241Phe)
3g.185519177C>GCA355688024LIPHc.851G>C (p.Cys284Ser)
c.749G>C (p.Cys250Ser)
c.223G>C
c.761G>C (p.Cys254Ser)
c.722G>C (p.Cys241Ser)
3g.185519177C>TCA355688026LIPHc.851G>A (p.Cys284Tyr)
c.749G>A (p.Cys250Tyr)
c.223G>A
c.761G>A (p.Cys254Tyr)
c.722G>A (p.Cys241Tyr)
3g.185519178A>CCA355688028LIPHc.850T>G (p.Cys284Gly)
c.748T>G (p.Cys250Gly)
c.222T>G
c.760T>G (p.Cys254Gly)
c.721T>G (p.Cys241Gly)
3g.185519178A>GCA355688030LIPHc.850T>C (p.Cys284Arg)
c.748T>C (p.Cys250Arg)
c.222T>C
c.760T>C (p.Cys254Arg)
c.721T>C (p.Cys241Arg)
3g.185519178A>TCA355688032LIPHc.850T>A (p.Cys284Ser)
c.748T>A (p.Cys250Ser)
c.222T>A
c.760T>A (p.Cys254Ser)
c.721T>A (p.Cys241Ser)
3g.185519179G>ACA437347222LIPHc.849C>T (p.Ser283=)
c.747C>T (p.Ser249=)
c.221C>T
c.759C>T (p.Ser253=)
c.720C>T (p.Ser240=)
3g.185519179G>CCA355688035LIPHc.849C>G (p.Ser283Arg)
c.747C>G (p.Ser249Arg)
c.221C>G
c.759C>G (p.Ser253Arg)
c.720C>G (p.Ser240Arg)
3g.185519179G>TCA355688037LIPHc.849C>A (p.Ser283Arg)
c.747C>A (p.Ser249Arg)
c.221C>A
c.759C>A (p.Ser253Arg)
c.720C>A (p.Ser240Arg)
3g.185519180C>ACA2740486LIPHc.848G>T (p.Ser283Ile)
c.746G>T (p.Ser249Ile)
c.220G>T
c.758G>T (p.Ser253Ile)
c.719G>T (p.Ser240Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.185519180C=CA1426522482LIPHc.848G= (p.Ser283=)
c.746G= (p.Ser249=)
c.220G=
c.758G= (p.Ser253=)
c.719G= (p.Ser240=)
3g.185519180C>GCA355688041LIPHc.848G>C (p.Ser283Thr)
c.746G>C (p.Ser249Thr)
c.220G>C
c.758G>C (p.Ser253Thr)
c.719G>C (p.Ser240Thr)
3g.185519180C>TCA355688043LIPHc.848G>A (p.Ser283Asn)
c.746G>A (p.Ser249Asn)
c.220G>A
c.758G>A (p.Ser253Asn)
c.719G>A (p.Ser240Asn)
3g.185519181T>ACA355688050LIPHc.847A>T (p.Ser283Cys)
c.745A>T (p.Ser249Cys)
c.219A>T
c.757A>T (p.Ser253Cys)
c.718A>T (p.Ser240Cys)
3g.185519181T>CCA355688047LIPHc.847A>G (p.Ser283Gly)
c.745A>G (p.Ser249Gly)
c.219A>G
c.757A>G (p.Ser253Gly)
c.718A>G (p.Ser240Gly)
3g.185519181T>GCA355688045LIPHc.847A>C (p.Ser283Arg)
c.745A>C (p.Ser249Arg)
c.219A>C
c.757A>C (p.Ser253Arg)
c.718A>C (p.Ser240Arg)
3g.185519182G>ACA437347232LIPHc.846C>T (p.Val282=)
c.744C>T (p.Val248=)
c.218C>T
c.756C>T (p.Val252=)
c.717C>T (p.Val239=)
3g.185519182G>CCA437347233LIPHc.846C>G (p.Val282=)
c.744C>G (p.Val248=)
c.218C>G
c.756C>G (p.Val252=)
c.717C>G (p.Val239=)
3g.185519182G>TCA437347231LIPHc.846C>A (p.Val282=)
c.744C>A (p.Val248=)
c.218C>A
c.756C>A (p.Val252=)
c.717C>A (p.Val239=)
3g.185519183A=CA1426522483LIPHc.845T= (p.Val282=)
c.743T= (p.Val248=)
c.217T=
c.755T= (p.Val252=)
c.716T= (p.Val239=)
3g.185519183A>CCA355688057LIPHc.845T>G (p.Val282Gly)
c.743T>G (p.Val248Gly)
c.217T>G
c.755T>G (p.Val252Gly)
c.716T>G (p.Val239Gly)
3g.185519183A>GCA89578952LIPHc.845T>C (p.Val282Ala)
c.743T>C (p.Val248Ala)
c.217T>C
c.755T>C (p.Val252Ala)
c.716T>C (p.Val239Ala)
 dbSNP gnomAD v4
3g.185519183A>TCA355688055LIPHc.845T>A (p.Val282Asp)
c.743T>A (p.Val248Asp)
c.217T>A
c.755T>A (p.Val252Asp)
c.716T>A (p.Val239Asp)
3g.185519187_185519188dupCA2668901441LIPHc.844_845dup (p.Cys284AlafsTer24)
c.742_743dup (p.Cys250AlafsTer24)
c.216_217dup
c.754_755dup (p.Cys254AlafsTer24)
c.715_716dup (p.Cys241AlafsTer24)
 gnomAD v4
3g.185519187_185519188delCA2759750259LIPHc.844_845del (p.Val282GlnfsTer18)
c.742_743del (p.Val248GlnfsTer18)
c.216_217del
c.754_755del (p.Val252GlnfsTer18)
c.715_716del (p.Val239GlnfsTer18)
3g.185519184C>ACA355688059LIPHc.844G>T (p.Val282Phe)
c.742G>T (p.Val248Phe)
c.216G>T
c.754G>T (p.Val252Phe)
c.715G>T (p.Val239Phe)
3g.185519184C>GCA355688061LIPHc.844G>C (p.Val282Leu)
c.742G>C (p.Val248Leu)
c.216G>C
c.754G>C (p.Val252Leu)
c.715G>C (p.Val239Leu)
3g.185519184C>TCA355688063LIPHc.844G>A (p.Val282Ile)
c.742G>A (p.Val248Ile)
c.216G>A
c.754G>A (p.Val252Ile)
c.715G>A (p.Val239Ile)
3g.185519185A>CCA355688066LIPHc.843T>G (p.Cys281Trp)
c.741T>G (p.Cys247Trp)
c.215T>G
c.753T>G (p.Cys251Trp)
c.714T>G (p.Cys238Trp)
3g.185519185A>GCA437347237LIPHc.843T>C (p.Cys281=)
c.741T>C (p.Cys247=)
c.215T>C
c.753T>C (p.Cys251=)
c.714T>C (p.Cys238=)
 gnomAD v4
3g.185519185A>TCA355688067LIPHc.843T>A (p.Cys281Ter)
c.741T>A (p.Cys247Ter)
c.215T>A
c.753T>A (p.Cys251Ter)
c.714T>A (p.Cys238Ter)
3g.185519186C>ACA355688070LIPHc.842G>T (p.Cys281Phe)
c.740G>T (p.Cys247Phe)
c.214G>T
c.752G>T (p.Cys251Phe)
c.713G>T (p.Cys238Phe)
3g.185519186C=CA1426522484LIPHc.842G= (p.Cys281=)
c.740G= (p.Cys247=)
c.214G=
c.752G= (p.Cys251=)
c.713G= (p.Cys238=)
3g.185519186C>GCA355688072LIPHc.842G>C (p.Cys281Ser)
c.740G>C (p.Cys247Ser)
c.214G>C
c.752G>C (p.Cys251Ser)
c.713G>C (p.Cys238Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.185519186C>TCA355688074LIPHc.842G>A (p.Cys281Tyr)
c.740G>A (p.Cys247Tyr)
c.214G>A
c.752G>A (p.Cys251Tyr)
c.713G>A (p.Cys238Tyr)
3g.185519187A>CCA355688077LIPHc.841T>G (p.Cys281Gly)
c.739T>G (p.Cys247Gly)
c.213T>G
c.751T>G (p.Cys251Gly)
c.712T>G (p.Cys238Gly)
3g.185519187A>GCA355688079LIPHc.841T>C (p.Cys281Arg)
c.739T>C (p.Cys247Arg)
c.213T>C
c.751T>C (p.Cys251Arg)
c.712T>C (p.Cys238Arg)
 COSMIC
3g.185519187A>TCA355688081LIPHc.841T>A (p.Cys281Ser)
c.739T>A (p.Cys247Ser)
c.213T>A
c.751T>A (p.Cys251Ser)
c.712T>A (p.Cys238Ser)
3g.185519188C>ACA355688086LIPHc.840G>T (p.Lys280Asn)
c.738G>T (p.Lys246Asn)
c.212G>T
c.750G>T (p.Lys250Asn)
c.711G>T (p.Lys237Asn)
3g.185519188C>GCA355688084LIPHc.840G>C (p.Lys280Asn)
c.738G>C (p.Lys246Asn)
c.212G>C
c.750G>C (p.Lys250Asn)
c.711G>C (p.Lys237Asn)
3g.185519188C>TCA437347242LIPHc.840G>A (p.Lys280=)
c.738G>A (p.Lys246=)
c.212G>A
c.750G>A (p.Lys250=)
c.711G>A (p.Lys237=)
3g.185519189T>ACA355688089LIPHc.839A>T (p.Lys280Met)
c.737A>T (p.Lys246Met)
c.211A>T
c.749A>T (p.Lys250Met)
c.710A>T (p.Lys237Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.185519189T>CCA2740487LIPHc.839A>G (p.Lys280Arg)
c.737A>G (p.Lys246Arg)
c.211A>G
c.749A>G (p.Lys250Arg)
c.710A>G (p.Lys237Arg)
 dbSNP ExAC gnomAD v2
3g.185519189T>GCA355688093LIPHc.839A>C (p.Lys280Thr)
c.737A>C (p.Lys246Thr)
c.211A>C
c.749A>C (p.Lys250Thr)
c.710A>C (p.Lys237Thr)
3g.185519189T=CA1426522485LIPHc.839A= (p.Lys280=)
c.737A= (p.Lys246=)
c.211A=
c.749A= (p.Lys250=)
c.710A= (p.Lys237=)
3g.185519190T>ACA355688096LIPHc.838A>T (p.Lys280Ter)
c.736A>T (p.Lys246Ter)
c.210A>T
c.748A>T (p.Lys250Ter)
c.709A>T (p.Lys237Ter)
3g.185519190T>CCA355688098LIPHc.838A>G (p.Lys280Glu)
c.736A>G (p.Lys246Glu)
c.210A>G
c.748A>G (p.Lys250Glu)
c.709A>G (p.Lys237Glu)
3g.185519190T>GCA355688099LIPHc.838A>C (p.Lys280Gln)
c.736A>C (p.Lys246Gln)
c.210A>C
c.748A>C (p.Lys250Gln)
c.709A>C (p.Lys237Gln)
3g.185519191G>ACA437347247LIPHc.837C>T (p.Gly279=)
c.735C>T (p.Gly245=)
c.209C>T
c.747C>T (p.Gly249=)
c.708C>T (p.Gly236=)
3g.185519191G>CCA437347248LIPHc.837C>G (p.Gly279=)
c.735C>G (p.Gly245=)
c.209C>G
c.747C>G (p.Gly249=)
c.708C>G (p.Gly236=)
3g.185519191G>TCA437347249LIPHc.837C>A (p.Gly279=)
c.735C>A (p.Gly245=)
c.209C>A
c.747C>A (p.Gly249=)
c.708C>A (p.Gly236=)
3g.185519192C>ACA355688100LIPHc.836G>T (p.Gly279Val)
c.734G>T (p.Gly245Val)
c.208G>T
c.746G>T (p.Gly249Val)
c.707G>T (p.Gly236Val)
 COSMIC
3g.185519192C=CA1426522486LIPHc.836G= (p.Gly279=)
c.734G= (p.Gly245=)
c.208G=
c.746G= (p.Gly249=)
c.707G= (p.Gly236=)
3g.185519192C>GCA355688101LIPHc.836G>C (p.Gly279Ala)
c.734G>C (p.Gly245Ala)
c.208G>C
c.746G>C (p.Gly249Ala)
c.707G>C (p.Gly236Ala)
3g.185519192C>TCA355688102LIPHc.836G>A (p.Gly279Asp)
c.734G>A (p.Gly245Asp)
c.208G>A
c.746G>A (p.Gly249Asp)
c.707G>A (p.Gly236Asp)
 dbSNP gnomAD v3 gnomAD v4
3g.185519193C>ACA355688103LIPHc.835G>T (p.Gly279Cys)
c.733G>T (p.Gly245Cys)
c.207G>T
c.745G>T (p.Gly249Cys)
c.706G>T (p.Gly236Cys)
3g.185519193C=CA1426522487LIPHc.835G= (p.Gly279=)
c.733G= (p.Gly245=)
c.207G=
c.745G= (p.Gly249=)
c.706G= (p.Gly236=)
3g.185519193C>GCA355688104LIPHc.835G>C (p.Gly279Arg)
c.733G>C (p.Gly245Arg)
c.207G>C
c.745G>C (p.Gly249Arg)
c.706G>C (p.Gly236Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.185519193C>TCA355688105LIPHc.835G>A (p.Gly279Ser)
c.733G>A (p.Gly245Ser)
c.207G>A
c.745G>A (p.Gly249Ser)
c.706G>A (p.Gly236Ser)
 gnomAD v4
3g.185519194A>CCA355688106LIPHc.834T>G (p.Asn278Lys)
c.732T>G (p.Asn244Lys)
c.206T>G
c.744T>G (p.Asn248Lys)
c.705T>G (p.Asn235Lys)
3g.185519194A>GCA437347254LIPHc.834T>C (p.Asn278=)
c.732T>C (p.Asn244=)
c.206T>C
c.744T>C (p.Asn248=)
c.705T>C (p.Asn235=)
3g.185519194A>TCA355688107LIPHc.834T>A (p.Asn278Lys)
c.732T>A (p.Asn244Lys)
c.206T>A
c.744T>A (p.Asn248Lys)
c.705T>A (p.Asn235Lys)
3g.185519195T>ACA355688109LIPHc.833A>T (p.Asn278Ile)
c.731A>T (p.Asn244Ile)
c.205A>T
c.743A>T (p.Asn248Ile)
c.704A>T (p.Asn235Ile)
3g.185519195T>CCA355688110LIPHc.833A>G (p.Asn278Ser)
c.731A>G (p.Asn244Ser)
c.205A>G
c.743A>G (p.Asn248Ser)
c.704A>G (p.Asn235Ser)
 gnomAD v4
3g.185519195T>GCA355688108LIPHc.833A>C (p.Asn278Thr)
c.731A>C (p.Asn244Thr)
c.205A>C
c.743A>C (p.Asn248Thr)
c.704A>C (p.Asn235Thr)
3g.185519196T>ACA355688111LIPHc.832A>T (p.Asn278Tyr)
c.730A>T (p.Asn244Tyr)
c.204A>T
c.742A>T (p.Asn248Tyr)
c.703A>T (p.Asn235Tyr)
3g.185519196T>CCA355688113LIPHc.832A>G (p.Asn278Asp)
c.730A>G (p.Asn244Asp)
c.204A>G
c.742A>G (p.Asn248Asp)
c.703A>G (p.Asn235Asp)
3g.185519196T>GCA355688112LIPHc.832A>C (p.Asn278His)
c.730A>C (p.Asn244His)
c.204A>C
c.742A>C (p.Asn248His)
c.703A>C (p.Asn235His)

Number of alleles fetched