Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.91055799G>ACA481306971KERAc.483C>T (p.Thr161=)
COSMIC
12g.91055799G>CCA6716560KERAc.483C>G (p.Thr161=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055799G=CA2054259908KERAc.483C= (p.Thr161=)
12g.91055799G>TCA481306974KERAc.483C>A (p.Thr161=)
gnomAD v4
12g.91055800G>ACA386014012KERAc.482C>T (p.Thr161Ile)
dbSNP gnomAD v2
12g.91055800G>CCA386014013KERAc.482C>G (p.Thr161Ser)
12g.91055800G=CA2054259913KERAc.482C= (p.Thr161=)
12g.91055800G>TCA6716561KERAc.482C>A (p.Thr161Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055801T>ACA6716562KERAc.481A>T (p.Thr161Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055801T>CCA386014014KERAc.481A>G (p.Thr161Ala)
12g.91055801T>GCA386014015KERAc.481A>C (p.Thr161Pro)
12g.91055801T=CA2054259916KERAc.481A= (p.Thr161=)
12g.91055802C>ACA481306977KERAc.480G>T (p.Gly160=)
12g.91055802C=CA2054259919KERAc.480G= (p.Gly160=)
12g.91055802C>GCA6716564KERAc.480G>C (p.Gly160=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055802C>TCA6716563KERAc.480G>A (p.Gly160=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055803C>ACA386014017KERAc.479G>T (p.Gly160Val)
12g.91055803C=CA2054259922KERAc.479G= (p.Gly160=)
12g.91055803C>GCA386014016KERAc.479G>C (p.Gly160Ala)
12g.91055803C>TCA6716565KERAc.479G>A (p.Gly160Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055804C>ACA386014018KERAc.478G>T (p.Gly160Trp)
12g.91055804C>GCA386014019KERAc.478G>C (p.Gly160Arg)
12g.91055804C>TCA386014020KERAc.478G>A (p.Gly160Arg)
12g.91055805T>ACA386014021KERAc.477A>T (p.Gln159His)
12g.91055805T>CCA481306979KERAc.477A>G (p.Gln159=)
12g.91055805T>GCA386014022KERAc.477A>C (p.Gln159His)
12g.91055806T>ACA386014023KERAc.476A>T (p.Gln159Leu)
12g.91055806T>CCA386014024KERAc.476A>G (p.Gln159Arg)
12g.91055806T>GCA386014025KERAc.476A>C (p.Gln159Pro)
12g.91055807G>ACA386014027KERAc.475C>T (p.Gln159Ter)
gnomAD v4
12g.91055807G>CCA386014028KERAc.475C>G (p.Gln159Glu)
12g.91055807G>TCA386014026KERAc.475C>A (p.Gln159Lys)
12g.91055808A>CCA481306980KERAc.474T>G (p.Pro158=)
12g.91055808A>GCA481306981KERAc.474T>C (p.Pro158=)
12g.91055808A>TCA481306982KERAc.474T>A (p.Pro158=)
12g.91055809G>ACA386014029KERAc.473C>T (p.Pro158Leu)
dbSNP gnomAD v3 gnomAD v4
12g.91055809G>CCA386014030KERAc.473C>G (p.Pro158Arg)
12g.91055809G=CA2054259924KERAc.473C= (p.Pro158=)
12g.91055809G>TCA386014031KERAc.473C>A (p.Pro158His)
12g.91055810G>ACA6716566KERAc.472C>T (p.Pro158Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.91055810G>CCA386014032KERAc.472C>G (p.Pro158Ala)
12g.91055810G=CA2054259928KERAc.472C= (p.Pro158=)
12g.91055810G>TCA386014033KERAc.472C>A (p.Pro158Thr)
12g.91055811A>CCA386014034KERAc.471T>G (p.Ile157Met)
12g.91055811A>GCA481306988KERAc.471T>C (p.Ile157=)
12g.91055811A>TCA481306990KERAc.471T>A (p.Ile157=)
12g.91055812A>CCA386014035KERAc.470T>G (p.Ile157Ser)
gnomAD v4
12g.91055812A>GCA386014036KERAc.470T>C (p.Ile157Thr)
12g.91055812A>TCA386014037KERAc.470T>A (p.Ile157Asn)
12g.91055813T>ACA386014040KERAc.469A>T (p.Ile157Phe)
12g.91055813T>CCA386014038KERAc.469A>G (p.Ile157Val)
12g.91055813T>GCA386014039KERAc.469A>C (p.Ile157Leu)
12g.91055814T>ACA386014041KERAc.468A>T (p.Arg156Ser)
12g.91055814T>CCA481306993KERAc.468A>G (p.Arg156=)
12g.91055814T>GCA386014042KERAc.468A>C (p.Arg156Ser)
12g.91055815C>ACA386014043KERAc.467G>T (p.Arg156Ile)
gnomAD v4
12g.91055815C>GCA386014044KERAc.467G>C (p.Arg156Thr)
COSMIC
12g.91055815C>TCA386014045KERAc.467G>A (p.Arg156Lys)
12g.91055816T>ACA386014046KERAc.466A>T (p.Arg156Ter)
12g.91055816T>CCA386014047KERAc.466A>G (p.Arg156Gly)
12g.91055816T>GCA481306997KERAc.466A>C (p.Arg156=)
dbSNP gnomAD v2 gnomAD v4
12g.91055816T=CA2054259934KERAc.466A= (p.Arg156=)
12g.91055817G>ACA481306999KERAc.465C>T (p.Ser155=)
12g.91055817G>CCA481307000KERAc.465C>G (p.Ser155=)
12g.91055817G>TCA481307001KERAc.465C>A (p.Ser155=)
COSMIC
12g.91055818G>ACA386014048KERAc.464C>T (p.Ser155Phe)
12g.91055818G>CCA386014049KERAc.464C>G (p.Ser155Cys)
gnomAD v4
12g.91055818G=CA2054259938KERAc.464C= (p.Ser155=)
12g.91055818G>TCA386014050KERAc.464C>A (p.Ser155Tyr)
dbSNP gnomAD v3 gnomAD v4
12g.91055819A>CCA386014052KERAc.463T>G (p.Ser155Ala)
12g.91055819A>GCA386014053KERAc.463T>C (p.Ser155Pro)
gnomAD v4
12g.91055819A>TCA386014051KERAc.463T>A (p.Ser155Thr)
12g.91055820C>ACA481307005KERAc.462G>T (p.Val154=)
12g.91055820C>GCA481307006KERAc.462G>C (p.Val154=)
12g.91055820C>TCA481307007KERAc.462G>A (p.Val154=)
gnomAD v4 COSMIC
12g.91055821A>CCA386014056KERAc.461T>G (p.Val154Gly)
12g.91055821A>GCA386014054KERAc.461T>C (p.Val154Ala)
12g.91055821A>TCA386014055KERAc.461T>A (p.Val154Glu)
12g.91055822C>ACA6716567KERAc.460G>T (p.Val154Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055822C=CA2054259941KERAc.460G= (p.Val154=)
12g.91055822C>GCA386014057KERAc.460G>C (p.Val154Leu)
12g.91055822C>TCA386014058KERAc.460G>A (p.Val154Met)
gnomAD v4
12g.91055823C>ACA386014059KERAc.459G>T (p.Lys153Asn)
12g.91055823C=CA2054259945KERAc.459G= (p.Lys153=)
12g.91055823C>GCA386014060KERAc.459G>C (p.Lys153Asn)
dbSNP gnomAD v2 gnomAD v4
12g.91055823C>TCA481307010KERAc.459G>A (p.Lys153=)
dbSNP
12g.91055824T>ACA386014061KERAc.458A>T (p.Lys153Met)
dbSNP gnomAD v2 gnomAD v4
12g.91055824T>CCA386014062KERAc.458A>G (p.Lys153Arg)
COSMIC
12g.91055824T>GCA386014063KERAc.458A>C (p.Lys153Thr)
12g.91055824T=CA2054259946KERAc.458A= (p.Lys153=)
12g.91055825T>ACA386014066KERAc.457A>T (p.Lys153Ter)
12g.91055825T>CCA386014065KERAc.457A>G (p.Lys153Glu)
gnomAD v4
12g.91055825T>GCA386014064KERAc.457A>C (p.Lys153Gln)
gnomAD v4
12g.91055826A>CCA386014067KERAc.456T>G (p.Asn152Lys)
12g.91055826A>GCA481307012KERAc.456T>C (p.Asn152=)
12g.91055826A>TCA386014068KERAc.456T>A (p.Asn152Lys)
12g.91055827T>ACA386014069KERAc.455A>T (p.Asn152Ile)
12g.91055827T>CCA386014070KERAc.455A>G (p.Asn152Ser)
COSMIC
12g.91055827T>GCA386014071KERAc.455A>C (p.Asn152Thr)
12g.91055828T>ACA386014072KERAc.454A>T (p.Asn152Tyr)
gnomAD v4
12g.91055828T>CCA386014073KERAc.454A>G (p.Asn152Asp)
12g.91055828T>GCA386014074KERAc.454A>C (p.Asn152His)
12g.91055829T>ACA386014075KERAc.453A>T (p.Arg151Ser)
12g.91055829T>CCA481307018KERAc.453A>G (p.Arg151=)
12g.91055829T>GCA386014076KERAc.453A>C (p.Arg151Ser)
12g.91055830C>ACA386014078KERAc.452G>T (p.Arg151Ile)
12g.91055830C=CA2054259948KERAc.452G= (p.Arg151=)
12g.91055830C>GCA386014077KERAc.452G>C (p.Arg151Thr)
12g.91055830C>TCA6716568KERAc.452G>A (p.Arg151Lys)
dbSNP ExAC gnomAD v2
12g.91055831T>ACA386014079KERAc.451A>T (p.Arg151Ter)
gnomAD v4
12g.91055831T>CCA386014080KERAc.451A>G (p.Arg151Gly)
gnomAD v4
12g.91055831T>GCA481307023KERAc.451A>C (p.Arg151=)
12g.91055832A>CCA481307026KERAc.450T>G (p.Ala150=)
12g.91055832A>GCA481307027KERAc.450T>C (p.Ala150=)
12g.91055832A>TCA481307028KERAc.450T>A (p.Ala150=)
12g.91055833G>ACA6716569KERAc.449C>T (p.Ala150Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055833G>CCA386014081KERAc.449C>G (p.Ala150Gly)
12g.91055833G=CA2054259950KERAc.449C= (p.Ala150=)
12g.91055833G>TCA386014082KERAc.449C>A (p.Ala150Asp)
12g.91055834C>ACA386014083KERAc.448G>T (p.Ala150Ser)
12g.91055834C>GCA386014084KERAc.448G>C (p.Ala150Pro)
12g.91055834C>TCA386014085KERAc.448G>A (p.Ala150Thr)
12g.91055835T>ACA386014086KERAc.447A>T (p.Leu149Phe)
12g.91055835T>CCA481307032KERAc.447A>G (p.Leu149=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.91055835T>GCA386014087KERAc.447A>C (p.Leu149Phe)
12g.91055835T=CA2054259953KERAc.447A= (p.Leu149=)
12g.91055836A>CCA386014090KERAc.446T>G (p.Leu149Ter)
12g.91055836A>GCA386014089KERAc.446T>C (p.Leu149Ser)
12g.91055836A>TCA386014088KERAc.446T>A (p.Leu149Ter)
12g.91055837A=CA2054259957KERAc.445T= (p.Leu149=)
12g.91055837A>CCA386014091KERAc.445T>G (p.Leu149Val)
12g.91055837A>GCA6716570KERAc.445T>C (p.Leu149=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055837A>TCA386014092KERAc.445T>A (p.Leu149Ile)
12g.91055838T>ACA386014093KERAc.444A>T (p.Gln148His)
12g.91055838T>CCA6716571KERAc.444A>G (p.Gln148=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055838T>GCA386014094KERAc.444A>C (p.Gln148His)
dbSNP
12g.91055838T=CA2054259959KERAc.444A= (p.Gln148=)
12g.91055839T>ACA386014095KERAc.443A>T (p.Gln148Leu)
12g.91055839T>CCA386014096KERAc.443A>G (p.Gln148Arg)
12g.91055839T>GCA386014097KERAc.443A>C (p.Gln148Pro)
12g.91055840G>ACA386014098KERAc.442C>T (p.Gln148Ter)
gnomAD v4
12g.91055840G>CCA386014099KERAc.442C>G (p.Gln148Glu)
12g.91055840G>TCA386014100KERAc.442C>A (p.Gln148Lys)
gnomAD v4
12g.91055841T>ACA386014102KERAc.441A>T (p.Leu147Phe)
12g.91055841T>CCA481307045KERAc.441A>G (p.Leu147=)
12g.91055841T>GCA386014101KERAc.441A>C (p.Leu147Phe)
12g.91055842A=CA2054259963KERAc.440T= (p.Leu147=)
12g.91055842A>CCA386014103KERAc.440T>G (p.Leu147Ter)
12g.91055842A>GCA241201460KERAc.440T>C (p.Leu147Ser)
dbSNP
12g.91055842A>TCA386014104KERAc.440T>A (p.Leu147Ter)
12g.91055843A>CCA386014105KERAc.439T>G (p.Leu147Val)
12g.91055843A>GCA481307051KERAc.439T>C (p.Leu147=)
12g.91055843A>TCA386014106KERAc.439T>A (p.Leu147Ile)
12g.91055844T>ACA386014107KERAc.438A>T (p.Gln146His)
12g.91055844T>CCA481307056KERAc.438A>G (p.Gln146=)
gnomAD v4
12g.91055844T>GCA386014108KERAc.438A>C (p.Gln146His)
12g.91055845T>ACA386014109KERAc.437A>T (p.Gln146Leu)
12g.91055845T>CCA386014110KERAc.437A>G (p.Gln146Arg)
COSMIC
12g.91055845T>GCA386014111KERAc.437A>C (p.Gln146Pro)
12g.91055846G>ACA386014112KERAc.436C>T (p.Gln146Ter)
12g.91055846G>CCA386014113KERAc.436C>G (p.Gln146Glu)
12g.91055846G=CA2054259967KERAc.436C= (p.Gln146=)
12g.91055846G>TCA386014114KERAc.436C>A (p.Gln146Lys)
dbSNP
12g.91055847T>ACA386014115KERAc.435A>T (p.Glu145Asp)
12g.91055847T>CCA481307059KERAc.435A>G (p.Glu145=)
12g.91055847T>GCA6716572KERAc.435A>C (p.Glu145Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055847T=CA2054259972KERAc.435A= (p.Glu145=)
12g.91055848T>ACA386014116KERAc.434A>T (p.Glu145Val)
12g.91055848T>CCA386014118KERAc.434A>G (p.Glu145Gly)
gnomAD v4
12g.91055848T>GCA386014117KERAc.434A>C (p.Glu145Ala)
12g.91055849C>ACA386014119KERAc.433G>T (p.Glu145Ter)
gnomAD v4
12g.91055849C>GCA386014120KERAc.433G>C (p.Glu145Gln)
12g.91055849C>TCA386014121KERAc.433G>A (p.Glu145Lys)
12g.91055850T>ACA386014122KERAc.432A>T (p.Leu144Phe)
12g.91055850T>CCA481307063KERAc.432A>G (p.Leu144=)
gnomAD v4
12g.91055850T>GCA386014123KERAc.432A>C (p.Leu144Phe)
12g.91055851A>CCA386014124KERAc.431T>G (p.Leu144Ter)
12g.91055851A>GCA386014125KERAc.431T>C (p.Leu144Ser)
12g.91055851A>TCA386014126KERAc.431T>A (p.Leu144Ter)
12g.91055852A>CCA386014128KERAc.430T>G (p.Leu144Val)
12g.91055852A>GCA481307067KERAc.430T>C (p.Leu144=)
12g.91055852A>TCA386014127KERAc.430T>A (p.Leu144Ile)
12g.91055853A>CCA386014129KERAc.429T>G (p.Ser143Arg)
12g.91055853A>GCA481307068KERAc.429T>C (p.Ser143=)
12g.91055853A>TCA386014130KERAc.429T>A (p.Ser143Arg)
12g.91055854C>ACA386014131KERAc.428G>T (p.Ser143Ile)
12g.91055854C>GCA386014132KERAc.428G>C (p.Ser143Thr)
12g.91055854C>TCA386014133KERAc.428G>A (p.Ser143Asn)
gnomAD v4
12g.91055857_91055859delCA2620149245KERAc.426_428del (p.Arg142del)
gnomAD v4
12g.91055855T>ACA386014134KERAc.427A>T (p.Ser143Cys)
12g.91055855T>CCA386014135KERAc.427A>G (p.Ser143Gly)
gnomAD v4
12g.91055855T>GCA386014136KERAc.427A>C (p.Ser143Arg)
12g.91055856T>ACA386014137KERAc.426A>T (p.Arg142Ser)
12g.91055856T>CCA481306616KERAc.426A>G (p.Arg142=)
12g.91055856T>GCA386014138KERAc.426A>C (p.Arg142Ser)
12g.91055857C>ACA386014141KERAc.425G>T (p.Arg142Ile)
COSMIC
12g.91055857C>GCA386014139KERAc.425G>C (p.Arg142Thr)
12g.91055857C>TCA386014140KERAc.425G>A (p.Arg142Lys)
12g.91055858T>ACA386014142KERAc.424A>T (p.Arg142Ter)
gnomAD v4
12g.91055858T>CCA241201467KERAc.424A>G (p.Arg142Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.91055858T>GCA481306631KERAc.424A>C (p.Arg142=)
12g.91055858T=CA2054259975KERAc.424A= (p.Arg142=)
12g.91055859T>ACA481306638KERAc.423A>T (p.Pro141=)
12g.91055859T>CCA481306636KERAc.423A>G (p.Pro141=)
gnomAD v4
12g.91055859T>GCA481306634KERAc.423A>C (p.Pro141=)
12g.91055860G>ACA386014143KERAc.422C>T (p.Pro141Leu)
12g.91055860G>CCA386014144KERAc.422C>G (p.Pro141Arg)
12g.91055860G>TCA386014145KERAc.422C>A (p.Pro141Gln)
12g.91055861G>ACA386014146KERAc.421C>T (p.Pro141Ser)
gnomAD v4
12g.91055861G>CCA386014147KERAc.421C>G (p.Pro141Ala)
12g.91055861G>TCA386014148KERAc.421C>A (p.Pro141Thr)
12g.91055862C>ACA386014149KERAc.420G>T (p.Leu140Phe)
12g.91055862C>GCA386014150KERAc.420G>C (p.Leu140Phe)
12g.91055862C>TCA481306654KERAc.420G>A (p.Leu140=)
12g.91055863A>CCA386014153KERAc.419T>G (p.Leu140Trp)
12g.91055863A>GCA386014152KERAc.419T>C (p.Leu140Ser)
12g.91055863A>TCA386014151KERAc.419T>A (p.Leu140Ter)
12g.91055864A=CA2054259978KERAc.418T= (p.Leu140=)
12g.91055864A>CCA386014154KERAc.418T>G (p.Leu140Val)
12g.91055864A>GCA6716573KERAc.418T>C (p.Leu140=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055864A>TCA386014155KERAc.418T>A (p.Leu140Met)
12g.91055865T>ACA481306660KERAc.417A>T (p.Pro139=)
12g.91055865T>CCA6716574KERAc.417A>G (p.Pro139=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.91055865T>GCA481306661KERAc.417A>C (p.Pro139=)
12g.91055865T=CA2054259982KERAc.417A= (p.Pro139=)
12g.91055866G>ACA6716575KERAc.416C>T (p.Pro139Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.91055866G>CCA386014156KERAc.416C>G (p.Pro139Arg)
12g.91055866G=CA2054259987KERAc.416C= (p.Pro139=)
12g.91055866G>TCA386014157KERAc.416C>A (p.Pro139Gln)
gnomAD v4
12g.91055867G>ACA386014158KERAc.415C>T (p.Pro139Ser)
12g.91055867G>CCA6716576KERAc.415C>G (p.Pro139Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055867G=CA2054259992KERAc.415C= (p.Pro139=)
12g.91055867G>TCA386014159KERAc.415C>A (p.Pro139Thr)
12g.91055868A>CCA481306667KERAc.414T>G (p.Ser138=)
12g.91055868A>GCA481306668KERAc.414T>C (p.Ser138=)
12g.91055868A>TCA481306669KERAc.414T>A (p.Ser138=)
12g.91055869G>ACA241201469KERAc.413C>T (p.Ser138Phe)
dbSNP gnomAD v2 gnomAD v4
12g.91055869G>CCA386014160KERAc.413C>G (p.Ser138Cys)
12g.91055869G=CA2054259994KERAc.413C= (p.Ser138=)
12g.91055869G>TCA386014161KERAc.413C>A (p.Ser138Tyr)
COSMIC
12g.91055870A>CCA386014164KERAc.412T>G (p.Ser138Ala)
12g.91055870A>GCA386014162KERAc.412T>C (p.Ser138Pro)
12g.91055870A>TCA386014163KERAc.412T>A (p.Ser138Thr)
12g.91055871A>CCA481306676KERAc.411T>G (p.Pro137=)
12g.91055871A>GCA481306682KERAc.411T>C (p.Pro137=)
12g.91055871A>TCA481306685KERAc.411T>A (p.Pro137=)
12g.91055872G>ACA386014165KERAc.410C>T (p.Pro137Leu)
gnomAD v4
12g.91055872G>CCA386014166KERAc.410C>G (p.Pro137Arg)
12g.91055872G>TCA386014167KERAc.410C>A (p.Pro137His)
12g.91055873G>ACA386014168KERAc.409C>T (p.Pro137Ser)
gnomAD v4
12g.91055873G>CCA386014169KERAc.409C>G (p.Pro137Ala)
12g.91055873G>TCA386014170KERAc.409C>A (p.Pro137Thr)
12g.91055874T>ACA481306689KERAc.408A>T (p.Val136=)
12g.91055874T>CCA481306692KERAc.408A>G (p.Val136=)
gnomAD v4
12g.91055874T>GCA481306693KERAc.408A>C (p.Val136=)
12g.91055875A>CCA386014171KERAc.407T>G (p.Val136Gly)
12g.91055875A>GCA386014172KERAc.407T>C (p.Val136Ala)
12g.91055875A>TCA386014173KERAc.407T>A (p.Val136Glu)
12g.91055876C>ACA386014176KERAc.406G>T (p.Val136Leu)
12g.91055876C>GCA386014175KERAc.406G>C (p.Val136Leu)
12g.91055876C>TCA386014174KERAc.406G>A (p.Val136Ile)
12g.91055877C>ACA386014177KERAc.405G>T (p.Glu135Asp)
gnomAD v4
12g.91055877C>GCA386014178KERAc.405G>C (p.Glu135Asp)
12g.91055877C>TCA481306699KERAc.405G>A (p.Glu135=)
12g.91055878T>ACA386014179KERAc.404A>T (p.Glu135Val)
12g.91055878T>CCA386014180KERAc.404A>G (p.Glu135Gly)
12g.91055878T>GCA386014181KERAc.404A>C (p.Glu135Ala)
12g.91055879C>ACA386014182KERAc.403G>T (p.Glu135Ter)
12g.91055879C=CA2054259997KERAc.403G= (p.Glu135=)
12g.91055879C>GCA386014183KERAc.403G>C (p.Glu135Gln)
dbSNP gnomAD v3 gnomAD v4
12g.91055879C>TCA386014184KERAc.403G>A (p.Glu135Lys)
12g.91055880C>ACA386014185KERAc.402G>T (p.Glu134Asp)
12g.91055880C=CA2054260000KERAc.402G= (p.Glu134=)
12g.91055880C>GCA386014186KERAc.402G>C (p.Glu134Asp)
12g.91055880C>TCA241201471KERAc.402G>A (p.Glu134=)
dbSNP COSMIC
12g.91055881T>ACA386014189KERAc.401A>T (p.Glu134Val)
12g.91055881T>CCA386014187KERAc.401A>G (p.Glu134Gly)
12g.91055881T>GCA386014188KERAc.401A>C (p.Glu134Ala)
12g.91055882C>ACA386014190KERAc.400G>T (p.Glu134Ter)
dbSNP gnomAD v2 gnomAD v4
12g.91055882C=CA2054260003KERAc.400G= (p.Glu134=)
12g.91055882C>GCA386014191KERAc.400G>C (p.Glu134Gln)
12g.91055882C>TCA386014192KERAc.400G>A (p.Glu134Lys)
12g.91055883T>ACA481306723KERAc.399A>T (p.Leu133=)
12g.91055883T>CCA481306722KERAc.399A>G (p.Leu133=)
gnomAD v4
12g.91055883T>GCA481306721KERAc.399A>C (p.Leu133=)
12g.91055884A>CCA386014193KERAc.398T>G (p.Leu133Arg)
12g.91055884A>GCA386014194KERAc.398T>C (p.Leu133Pro)
12g.91055884A>TCA386014195KERAc.398T>A (p.Leu133Gln)
12g.91055885G>ACA241201472KERAc.397C>T (p.Leu133=)
dbSNP
12g.91055885G>CCA386014196KERAc.397C>G (p.Leu133Val)
12g.91055885G=CA2054260005KERAc.397C= (p.Leu133=)
12g.91055885G>TCA386014197KERAc.397C>A (p.Leu133Ile)
12g.91055886C>ACA386014198KERAc.396G>T (p.Glu132Asp)
12g.91055886C>GCA386014199KERAc.396G>C (p.Glu132Asp)
12g.91055886C>TCA481306728KERAc.396G>A (p.Glu132=)
12g.91055887T>ACA386014201KERAc.395A>T (p.Glu132Val)
12g.91055887T>CCA386014202KERAc.395A>G (p.Glu132Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055887T>GCA386014200KERAc.395A>C (p.Glu132Ala)
12g.91055887T=CA2054260007KERAc.395A= (p.Glu132=)
12g.91055888C>ACA386014203KERAc.394G>T (p.Glu132Ter)
12g.91055888C>GCA386014205KERAc.394G>C (p.Glu132Gln)
12g.91055888C>TCA386014204KERAc.394G>A (p.Glu132Lys)
12g.91055889A=CA2054260010KERAc.393T= (p.Asn131=)
12g.91055889A>CCA386014206KERAc.393T>G (p.Asn131Lys)
12g.91055889A>GCA481306740KERAc.393T>C (p.Asn131=)
dbSNP gnomAD v2
12g.91055889A>TCA386014207KERAc.393T>A (p.Asn131Lys)
12g.91055890T>ACA386014208KERAc.392A>T (p.Asn131Ile)
12g.91055890T>CCA386014209KERAc.392A>G (p.Asn131Ser)
ClinVar
12g.91055890T>GCA386014210KERAc.392A>C (p.Asn131Thr)
gnomAD v4
12g.91055891T>ACA386014211KERAc.391A>T (p.Asn131Tyr)
12g.91055891T>CCA144356KERAc.391A>G (p.Asn131Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055891T>GCA386014212KERAc.391A>C (p.Asn131His)
12g.91055891T=CA2054260014KERAc.391A= (p.Asn131=)
12g.91055892A=CA2054260017KERAc.390T= (p.Asp130=)
12g.91055892A>CCA386014213KERAc.390T>G (p.Asp130Glu)
12g.91055892A>GCA6716577KERAc.390T>C (p.Asp130=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055892A>TCA386014214KERAc.390T>A (p.Asp130Glu)
12g.91055893T>ACA386014217KERAc.389A>T (p.Asp130Val)
12g.91055893T>CCA386014215KERAc.389A>G (p.Asp130Gly)
12g.91055893T>GCA386014216KERAc.389A>C (p.Asp130Ala)
12g.91055894C>ACA386014218KERAc.388G>T (p.Asp130Tyr)
12g.91055894C>GCA386014219KERAc.388G>C (p.Asp130His)
12g.91055894C>TCA386014220KERAc.388G>A (p.Asp130Asn)
12g.91055895T>ACA386014221KERAc.387A>T (p.Glu129Asp)
12g.91055895T>CCA481306756KERAc.387A>G (p.Glu129=)
12g.91055895T>GCA386014222KERAc.387A>C (p.Glu129Asp)
dbSNP gnomAD v2 gnomAD v4
12g.91055895T=CA2054260021KERAc.387A= (p.Glu129=)
12g.91055896T>ACA386014223KERAc.386A>T (p.Glu129Val)
12g.91055896T>CCA386014224KERAc.386A>G (p.Glu129Gly)
12g.91055896T>GCA386014225KERAc.386A>C (p.Glu129Ala)
12g.91055897C>ACA386014228KERAc.385G>T (p.Glu129Ter)
12g.91055897C>GCA386014227KERAc.385G>C (p.Glu129Gln)
12g.91055897C>TCA386014226KERAc.385G>A (p.Glu129Lys)
12g.91055898C>ACA481306767KERAc.384G>T (p.Leu128=)
12g.91055898C>GCA481306768KERAc.384G>C (p.Leu128=)
12g.91055898C>TCA481306770KERAc.384G>A (p.Leu128=)
12g.91055899A=CA2054260024KERAc.383T= (p.Leu128=)
12g.91055899A>CCA386014229KERAc.383T>G (p.Leu128Arg)
12g.91055899A>GCA386014230KERAc.383T>C (p.Leu128Pro)
dbSNP gnomAD v2 gnomAD v4
12g.91055899A>TCA386014231KERAc.383T>A (p.Leu128Gln)

Number of alleles fetched