Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125434228T>CCA2672009888FAT4c.7019-17T>C (n.7019-17T>C)
c.1790-17T>C (n.1790-17T>C)
c.1913-17T>C (n.1913-17T>C)
 gnomAD v4
4g.125434229T>ACA555019373FAT4c.7019-16T>A (n.7019-16T>A)
c.1790-16T>A (n.1790-16T>A)
c.1913-16T>A (n.1913-16T>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125434229T>CCA3073070FAT4c.7019-16T>C (n.7019-16T>C)
c.1790-16T>C (n.1790-16T>C)
c.1913-16T>C (n.1913-16T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434229T>GCA786680115FAT4c.7019-16T>G (n.7019-16T>G)
c.1790-16T>G (n.1790-16T>G)
c.1913-16T>G (n.1913-16T>G)
 dbSNP gnomAD v4
4g.125434229T=CA1491646774FAT4c.7019-16T= (n.7019-16T=)
c.1790-16T= (n.1790-16T=)
c.1913-16T= (n.1913-16T=)
4g.125434231T>GCA104869181FAT4c.7019-14T>G (n.7019-14T>G)
c.1790-14T>G (n.1790-14T>G)
c.1913-14T>G (n.1913-14T>G)
 dbSNP
4g.125434231T=CA1491646775FAT4c.7019-14T= (n.7019-14T=)
c.1790-14T= (n.1790-14T=)
c.1913-14T= (n.1913-14T=)
4g.125434232C=CA1491646776FAT4c.7019-13C= (n.7019-13C=)
c.1790-13C= (n.1790-13C=)
c.1913-13C= (n.1913-13C=)
4g.125434232C>TCA3073071FAT4c.7019-13C>T (n.7019-13C>T)
c.1790-13C>T (n.1790-13C>T)
c.1913-13C>T (n.1913-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434233T>ACA1491646778FAT4c.7019-12T>A (n.7019-12T>A)
c.1790-12T>A (n.1790-12T>A)
c.1913-12T>A (n.1913-12T>A)
 dbSNP
4g.125434233T>GCA2578191087FAT4c.7019-12T>G (n.7019-12T>G)
c.1790-12T>G (n.1790-12T>G)
c.1913-12T>G (n.1913-12T>G)
4g.125434233T=CA1491646777FAT4c.7019-12T= (n.7019-12T=)
c.1790-12T= (n.1790-12T=)
c.1913-12T= (n.1913-12T=)
4g.125434235T>GCA1491646780FAT4c.7019-10T>G (n.7019-10T>G)
c.1790-10T>G (n.1790-10T>G)
c.1913-10T>G (n.1913-10T>G)
 dbSNP
4g.125434235T=CA1491646779FAT4c.7019-10T= (n.7019-10T=)
c.1790-10T= (n.1790-10T=)
c.1913-10T= (n.1913-10T=)
4g.125434236T>CCA3073072FAT4c.7019-9T>C (n.7019-9T>C)
c.1790-9T>C (n.1790-9T>C)
c.1913-9T>C (n.1913-9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434236T=CA1491646781FAT4c.7019-9T= (n.7019-9T=)
c.1790-9T= (n.1790-9T=)
c.1913-9T= (n.1913-9T=)
4g.125434237C>ACA1067682681FAT4c.7019-8C>A (n.7019-8C>A)
c.1790-8C>A (n.1790-8C>A)
c.1913-8C>A (n.1913-8C>A)
 dbSNP gnomAD v3 gnomAD v4
4g.125434237C=CA1491646782FAT4c.7019-8C= (n.7019-8C=)
c.1790-8C= (n.1790-8C=)
c.1913-8C= (n.1913-8C=)
4g.125434237C>GCA2578191088FAT4c.7019-8C>G (n.7019-8C>G)
c.1790-8C>G (n.1790-8C>G)
c.1913-8C>G (n.1913-8C>G)
 gnomAD v4
4g.125434237C>TCA3073073FAT4c.7019-8C>T (n.7019-8C>T)
c.1790-8C>T (n.1790-8C>T)
c.1913-8C>T (n.1913-8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434238T>GCA3073075FAT4c.7019-7T>G (n.7019-7T>G)
c.1790-7T>G (n.1790-7T>G)
c.1913-7T>G (n.1913-7T>G)
 dbSNP ExAC gnomAD v2
4g.125434238T=CA1491646784FAT4c.7019-7T= (n.7019-7T=)
c.1790-7T= (n.1790-7T=)
c.1913-7T= (n.1913-7T=)
4g.125434242dupCA1491646783FAT4c.7019-3dup (n.7019-3dup)
c.1790-3dup (n.1790-3dup)
c.1913-3dup (n.1913-3dup)
 dbSNP
4g.125434241_125434242dupCA3073074FAT4c.7019-4_7019-3dup (n.7019-4_7019-3dup)
c.1790-4_1790-3dup (n.1790-4_1790-3dup)
c.1913-4_1913-3dup (n.1913-4_1913-3dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434239T>CCA2707130912FAT4c.7019-6T>C (n.7019-6T>C)
c.1790-6T>C (n.1790-6T>C)
c.1913-6T>C (n.1913-6T>C)
 dbSNP
4g.125434239T>GCA645538581FAT4c.7019-6T>G (n.7019-6T>G)
c.1790-6T>G (n.1790-6T>G)
c.1913-6T>G (n.1913-6T>G)
 COSMIC COSMIC
4g.125434242T>GCA3073076FAT4c.7019-3T>G (n.7019-3T>G)
c.1790-3T>G (n.1790-3T>G)
c.1913-3T>G (n.1913-3T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434242T=CA1491646785FAT4c.7019-3T= (n.7019-3T=)
c.1790-3T= (n.1790-3T=)
c.1913-3T= (n.1913-3T=)
4g.125434243A>CCA358134929FAT4c.7019-2A>C (n.7019-2A>C)
c.1790-2A>C (n.1790-2A>C)
c.1913-2A>C (n.1913-2A>C)
4g.125434243A>GCA358134931FAT4c.7019-2A>G (n.7019-2A>G)
c.1790-2A>G (n.1790-2A>G)
c.1913-2A>G (n.1913-2A>G)
4g.125434243A>TCA358134934FAT4c.7019-2A>T (n.7019-2A>T)
c.1790-2A>T (n.1790-2A>T)
c.1913-2A>T (n.1913-2A>T)
4g.125434244G>ACA358134936FAT4c.7019-1G>A (n.7019-1G>A)
c.1790-1G>A (n.1790-1G>A)
c.1913-1G>A (n.1913-1G>A)
 gnomAD v3 gnomAD v4
4g.125434244G>CCA358134938FAT4c.7019-1G>C (n.7019-1G>C)
c.1790-1G>C (n.1790-1G>C)
c.1913-1G>C (n.1913-1G>C)
4g.125434244G>TCA358134940FAT4c.7019-1G>T (n.7019-1G>T)
c.1790-1G>T (n.1790-1G>T)
c.1913-1G>T (n.1913-1G>T)
 gnomAD v4
4g.125434245G>ACA358134942FAT4c.7019G>A (p.Gly2340Glu)
c.1790G>A (p.Gly597Glu)
c.1913G>A (p.Gly638Glu)
 gnomAD v4
4g.125434245G>CCA358134943FAT4c.7019G>C (p.Gly2340Ala)
c.1790G>C (p.Gly597Ala)
c.1913G>C (p.Gly638Ala)
4g.125434245G>TCA358134945FAT4c.7019G>T (p.Gly2340Val)
c.1790G>T (p.Gly597Val)
c.1913G>T (p.Gly638Val)
 gnomAD v4
4g.125434246A=CA1491646786FAT4c.7020A= (p.Gly2340=)
c.1791A= (p.Gly597=)
c.1914A= (p.Gly638=)
4g.125434246A>CCA441204962FAT4c.7020A>C (p.Gly2340=)
c.1791A>C (p.Gly597=)
c.1914A>C (p.Gly638=)
4g.125434246A>GCA3073077FAT4c.7020A>G (p.Gly2340=)
c.1791A>G (p.Gly597=)
c.1914A>G (p.Gly638=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434246A>TCA441204963FAT4c.7020A>T (p.Gly2340=)
c.1791A>T (p.Gly597=)
c.1914A>T (p.Gly638=)
4g.125434247T>ACA358134950FAT4c.7021T>A (p.Ser2341Thr)
c.1792T>A (p.Ser598Thr)
c.1915T>A (p.Ser639Thr)
4g.125434247T>CCA358134952FAT4c.7021T>C (p.Ser2341Pro)
c.1792T>C (p.Ser598Pro)
c.1915T>C (p.Ser639Pro)
 dbSNP gnomAD v4
4g.125434247T>GCA358134954FAT4c.7021T>G (p.Ser2341Ala)
c.1792T>G (p.Ser598Ala)
c.1915T>G (p.Ser639Ala)
4g.125434247T=CA1491646787FAT4c.7021T= (p.Ser2341=)
c.1792T= (p.Ser598=)
c.1915T= (p.Ser639=)
4g.125434248C>ACA358134957FAT4c.7022C>A (p.Ser2341Tyr)
c.1793C>A (p.Ser598Tyr)
c.1916C>A (p.Ser639Tyr)
 dbSNP gnomAD v3 gnomAD v4
4g.125434248C=CA1491646788FAT4c.7022C= (p.Ser2341=)
c.1793C= (p.Ser598=)
c.1916C= (p.Ser639=)
4g.125434248C>GCA358134959FAT4c.7022C>G (p.Ser2341Cys)
c.1793C>G (p.Ser598Cys)
c.1916C>G (p.Ser639Cys)
4g.125434248C>TCA358134961FAT4c.7022C>T (p.Ser2341Phe)
c.1793C>T (p.Ser598Phe)
c.1916C>T (p.Ser639Phe)
 dbSNP gnomAD v4 COSMIC COSMIC
4g.125434251delCA2672009889FAT4c.7025del (p.Pro2342LeufsTer3)
c.1796del (p.Pro599LeufsTer3)
c.1919del (p.Pro640LeufsTer3)
 gnomAD v4
4g.125434249C>ACA441204964FAT4c.7023C>A (p.Ser2341=)
c.1794C>A (p.Ser598=)
c.1917C>A (p.Ser639=)
4g.125434249C>GCA441204965FAT4c.7023C>G (p.Ser2341=)
c.1794C>G (p.Ser598=)
c.1917C>G (p.Ser639=)
4g.125434249C>TCA441204966FAT4c.7023C>T (p.Ser2341=)
c.1794C>T (p.Ser598=)
c.1917C>T (p.Ser639=)
 gnomAD v4
4g.125434250C>ACA358134965FAT4c.7024C>A (p.Pro2342Thr)
c.1795C>A (p.Pro599Thr)
c.1918C>A (p.Pro640Thr)
4g.125434250C=CA1491646789FAT4c.7024C= (p.Pro2342=)
c.1795C= (p.Pro599=)
c.1918C= (p.Pro640=)
4g.125434250C>GCA358134966FAT4c.7024C>G (p.Pro2342Ala)
c.1795C>G (p.Pro599Ala)
c.1918C>G (p.Pro640Ala)
4g.125434250C>TCA3073078FAT4c.7024C>T (p.Pro2342Ser)
c.1795C>T (p.Pro599Ser)
c.1918C>T (p.Pro640Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434251C>ACA358134967FAT4c.7025C>A (p.Pro2342His)
c.1796C>A (p.Pro599His)
c.1919C>A (p.Pro640His)
4g.125434251C>GCA358134968FAT4c.7025C>G (p.Pro2342Arg)
c.1796C>G (p.Pro599Arg)
c.1919C>G (p.Pro640Arg)
4g.125434251C>TCA358134969FAT4c.7025C>T (p.Pro2342Leu)
c.1796C>T (p.Pro599Leu)
c.1919C>T (p.Pro640Leu)
 ClinVar gnomAD v4
4g.125434252T>ACA441204967FAT4c.7026T>A (p.Pro2342=)
c.1797T>A (p.Pro599=)
c.1920T>A (p.Pro640=)
4g.125434252T>CCA441204968FAT4c.7026T>C (p.Pro2342=)
c.1797T>C (p.Pro599=)
c.1920T>C (p.Pro640=)
 dbSNP
4g.125434252T>GCA441204969FAT4c.7026T>G (p.Pro2342=)
c.1797T>G (p.Pro599=)
c.1920T>G (p.Pro640=)
4g.125434252T=CA1491646790FAT4c.7026T= (p.Pro2342=)
c.1797T= (p.Pro599=)
c.1920T= (p.Pro640=)
4g.125434253G>ACA358134971FAT4c.7027G>A (p.Ala2343Thr)
c.1798G>A (p.Ala600Thr)
c.1921G>A (p.Ala641Thr)
4g.125434253G>CCA358134972FAT4c.7027G>C (p.Ala2343Pro)
c.1798G>C (p.Ala600Pro)
c.1921G>C (p.Ala641Pro)
4g.125434253G>TCA358134970FAT4c.7027G>T (p.Ala2343Ser)
c.1798G>T (p.Ala600Ser)
c.1921G>T (p.Ala641Ser)
4g.125434254C>ACA358134973FAT4c.7028C>A (p.Ala2343Asp)
c.1799C>A (p.Ala600Asp)
c.1922C>A (p.Ala641Asp)
 ClinVar
4g.125434254C=CA1491646791FAT4c.7028C= (p.Ala2343=)
c.1799C= (p.Ala600=)
c.1922C= (p.Ala641=)
4g.125434254C>GCA358134974FAT4c.7028C>G (p.Ala2343Gly)
c.1799C>G (p.Ala600Gly)
c.1922C>G (p.Ala641Gly)
4g.125434254C>TCA3073079FAT4c.7028C>T (p.Ala2343Val)
c.1799C>T (p.Ala600Val)
c.1922C>T (p.Ala641Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434254_125434255delinsTTCA645538582FAT4c.7028_7029delinsTT (p.Ala2343Val)
c.1799_1800delinsTT (p.Ala600Val)
c.1922_1923delinsTT (p.Ala641Val)
 COSMIC COSMIC
4g.125434255C>ACA441204970FAT4c.7029C>A (p.Ala2343=)
c.1800C>A (p.Ala600=)
c.1923C>A (p.Ala641=)
4g.125434255C>GCA441204971FAT4c.7029C>G (p.Ala2343=)
c.1800C>G (p.Ala600=)
c.1923C>G (p.Ala641=)
4g.125434255C>TCA441204972FAT4c.7029C>T (p.Ala2343=)
c.1800C>T (p.Ala600=)
c.1923C>T (p.Ala641=)
4g.125434256T>ACA358134975FAT4c.7030T>A (p.Leu2344Met)
c.1801T>A (p.Leu601Met)
c.1924T>A (p.Leu642Met)
4g.125434256T>CCA441204973FAT4c.7030T>C (p.Leu2344=)
c.1801T>C (p.Leu601=)
c.1924T>C (p.Leu642=)
 gnomAD v4
4g.125434256T>GCA358134976FAT4c.7030T>G (p.Leu2344Val)
c.1801T>G (p.Leu601Val)
c.1924T>G (p.Leu642Val)
4g.125434257T>ACA358134977FAT4c.7031T>A (p.Leu2344Ter)
c.1802T>A (p.Leu601Ter)
c.1925T>A (p.Leu642Ter)
4g.125434257T>CCA358134978FAT4c.7031T>C (p.Leu2344Ser)
c.1802T>C (p.Leu601Ser)
c.1925T>C (p.Leu642Ser)
4g.125434257T>GCA358134979FAT4c.7031T>G (p.Leu2344Trp)
c.1802T>G (p.Leu601Trp)
c.1925T>G (p.Leu642Trp)
4g.125434258G>ACA441204974FAT4c.7032G>A (p.Leu2344=)
c.1803G>A (p.Leu601=)
c.1926G>A (p.Leu642=)
4g.125434258G>CCA358134980FAT4c.7032G>C (p.Leu2344Phe)
c.1803G>C (p.Leu601Phe)
c.1926G>C (p.Leu642Phe)
4g.125434258G=CA1491646792FAT4c.7032G= (p.Leu2344=)
c.1803G= (p.Leu601=)
c.1926G= (p.Leu642=)
4g.125434258G>TCA358134981FAT4c.7032G>T (p.Leu2344Phe)
c.1803G>T (p.Leu601Phe)
c.1926G>T (p.Leu642Phe)
4g.125434259A>CCA358134982FAT4c.7033A>C (p.Thr2345Pro)
c.1804A>C (p.Thr602Pro)
c.1927A>C (p.Thr643Pro)
4g.125434259A>GCA358134983FAT4c.7033A>G (p.Thr2345Ala)
c.1804A>G (p.Thr602Ala)
c.1927A>G (p.Thr643Ala)
4g.125434259A>TCA358134984FAT4c.7033A>T (p.Thr2345Ser)
c.1804A>T (p.Thr602Ser)
c.1927A>T (p.Thr643Ser)
 gnomAD v4
4g.125434267_125434272dupCA170760FAT4c.7041_7046dup (p.Thr2349_Ile2350insGlyThr)
c.1812_1817dup (p.Thr606_Ile607insGlyThr)
c.1935_1940dup (p.Thr647_Ile648insGlyThr)
 ClinVar dbSNP gnomAD v4
4g.125434260C>ACA358134987FAT4c.7034C>A (p.Thr2345Asn)
c.1805C>A (p.Thr602Asn)
c.1928C>A (p.Thr643Asn)
4g.125434260C=CA1491646793FAT4c.7034C= (p.Thr2345=)
c.1805C= (p.Thr602=)
c.1928C= (p.Thr643=)
4g.125434260C>GCA358134985FAT4c.7034C>G (p.Thr2345Ser)
c.1805C>G (p.Thr602Ser)
c.1928C>G (p.Thr643Ser)
4g.125434260C>TCA358134986FAT4c.7034C>T (p.Thr2345Ile)
c.1805C>T (p.Thr602Ile)
c.1928C>T (p.Thr643Ile)
 dbSNP gnomAD v2 gnomAD v4
4g.125434261T>ACA441204975FAT4c.7035T>A (p.Thr2345=)
c.1806T>A (p.Thr602=)
c.1929T>A (p.Thr643=)
4g.125434261T>CCA441204976FAT4c.7035T>C (p.Thr2345=)
c.1806T>C (p.Thr602=)
c.1929T>C (p.Thr643=)
4g.125434261T>GCA441204977FAT4c.7035T>G (p.Thr2345=)
c.1806T>G (p.Thr602=)
c.1929T>G (p.Thr643=)
4g.125434262G>ACA358134988FAT4c.7036G>A (p.Gly2346Arg)
c.1807G>A (p.Gly603Arg)
c.1930G>A (p.Gly644Arg)
4g.125434262G>CCA358134989FAT4c.7036G>C (p.Gly2346Arg)
c.1807G>C (p.Gly603Arg)
c.1930G>C (p.Gly644Arg)
4g.125434262G>TCA358134990FAT4c.7036G>T (p.Gly2346Ter)
c.1807G>T (p.Gly603Ter)
c.1930G>T (p.Gly644Ter)
4g.125434263G>ACA358134991FAT4c.7037G>A (p.Gly2346Glu)
c.1808G>A (p.Gly603Glu)
c.1931G>A (p.Gly644Glu)
4g.125434263G>CCA358134992FAT4c.7037G>C (p.Gly2346Ala)
c.1808G>C (p.Gly603Ala)
c.1931G>C (p.Gly644Ala)
4g.125434263G>TCA358134993FAT4c.7037G>T (p.Gly2346Val)
c.1808G>T (p.Gly603Val)
c.1931G>T (p.Gly644Val)
4g.125434264A>CCA441204980FAT4c.7038A>C (p.Gly2346=)
c.1809A>C (p.Gly603=)
c.1932A>C (p.Gly644=)
4g.125434264A>GCA441204979FAT4c.7038A>G (p.Gly2346=)
c.1809A>G (p.Gly603=)
c.1932A>G (p.Gly644=)
 gnomAD v4
4g.125434264A>TCA441204978FAT4c.7038A>T (p.Gly2346=)
c.1809A>T (p.Gly603=)
c.1932A>T (p.Gly644=)
4g.125434265A=CA1491646794FAT4c.7039A= (p.Thr2347=)
c.1810A= (p.Thr604=)
c.1933A= (p.Thr645=)
4g.125434265A>CCA358134994FAT4c.7039A>C (p.Thr2347Pro)
c.1810A>C (p.Thr604Pro)
c.1933A>C (p.Thr645Pro)
4g.125434265A>GCA3073080FAT4c.7039A>G (p.Thr2347Ala)
c.1810A>G (p.Thr604Ala)
c.1933A>G (p.Thr645Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434265A>TCA358134995FAT4c.7039A>T (p.Thr2347Ser)
c.1810A>T (p.Thr604Ser)
c.1933A>T (p.Thr645Ser)
4g.125434266C>ACA358134996FAT4c.7040C>A (p.Thr2347Asn)
c.1811C>A (p.Thr604Asn)
c.1934C>A (p.Thr645Asn)
 COSMIC COSMIC
4g.125434266C>GCA358134997FAT4c.7040C>G (p.Thr2347Ser)
c.1811C>G (p.Thr604Ser)
c.1934C>G (p.Thr645Ser)
4g.125434266C>TCA358134998FAT4c.7040C>T (p.Thr2347Ile)
c.1811C>T (p.Thr604Ile)
c.1934C>T (p.Thr645Ile)
4g.125434267T>ACA441204981FAT4c.7041T>A (p.Thr2347=)
c.1812T>A (p.Thr604=)
c.1935T>A (p.Thr645=)
4g.125434267T>CCA441204982FAT4c.7041T>C (p.Thr2347=)
c.1812T>C (p.Thr604=)
c.1935T>C (p.Thr645=)
4g.125434267T>GCA441204983FAT4c.7041T>G (p.Thr2347=)
c.1812T>G (p.Thr604=)
c.1935T>G (p.Thr645=)
4g.125434268G>ACA358134999FAT4c.7042G>A (p.Gly2348Arg)
c.1813G>A (p.Gly605Arg)
c.1936G>A (p.Gly646Arg)
4g.125434268G>CCA358135001FAT4c.7042G>C (p.Gly2348Arg)
c.1813G>C (p.Gly605Arg)
c.1936G>C (p.Gly646Arg)
4g.125434268G>TCA358135000FAT4c.7042G>T (p.Gly2348Ter)
c.1813G>T (p.Gly605Ter)
c.1936G>T (p.Gly646Ter)
4g.125434269G>ACA358135002FAT4c.7043G>A (p.Gly2348Glu)
c.1814G>A (p.Gly605Glu)
c.1937G>A (p.Gly646Glu)
4g.125434269G>CCA358135004FAT4c.7043G>C (p.Gly2348Ala)
c.1814G>C (p.Gly605Ala)
c.1937G>C (p.Gly646Ala)
 dbSNP gnomAD v3 gnomAD v4
4g.125434269G=CA1491646795FAT4c.7043G= (p.Gly2348=)
c.1814G= (p.Gly605=)
c.1937G= (p.Gly646=)
4g.125434269G>TCA358135003FAT4c.7043G>T (p.Gly2348Val)
c.1814G>T (p.Gly605Val)
c.1937G>T (p.Gly646Val)
 dbSNP gnomAD v4
4g.125434270A>CCA441204984FAT4c.7044A>C (p.Gly2348=)
c.1815A>C (p.Gly605=)
c.1938A>C (p.Gly646=)
4g.125434270A>GCA441204985FAT4c.7044A>G (p.Gly2348=)
c.1815A>G (p.Gly605=)
c.1938A>G (p.Gly646=)
4g.125434270A>TCA441204986FAT4c.7044A>T (p.Gly2348=)
c.1815A>T (p.Gly605=)
c.1938A>T (p.Gly646=)
4g.125434271A>CCA358135005FAT4c.7045A>C (p.Thr2349Pro)
c.1816A>C (p.Thr606Pro)
c.1939A>C (p.Thr647Pro)
 gnomAD v4
4g.125434271A>GCA358135007FAT4c.7045A>G (p.Thr2349Ala)
c.1816A>G (p.Thr606Ala)
c.1939A>G (p.Thr647Ala)
 gnomAD v4
4g.125434271A>TCA358135006FAT4c.7045A>T (p.Thr2349Ser)
c.1816A>T (p.Thr606Ser)
c.1939A>T (p.Thr647Ser)
4g.125434272C>ACA104869226FAT4c.7046C>A (p.Thr2349Lys)
c.1817C>A (p.Thr606Lys)
c.1940C>A (p.Thr647Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125434272C=CA1491646796FAT4c.7046C= (p.Thr2349=)
c.1817C= (p.Thr606=)
c.1940C= (p.Thr647=)
4g.125434272C>GCA358135008FAT4c.7046C>G (p.Thr2349Arg)
c.1817C>G (p.Thr606Arg)
c.1940C>G (p.Thr647Arg)
4g.125434272C>TCA358135009FAT4c.7046C>T (p.Thr2349Ile)
c.1817C>T (p.Thr606Ile)
c.1940C>T (p.Thr647Ile)
4g.125434273A>CCA441204987FAT4c.7047A>C (p.Thr2349=)
c.1818A>C (p.Thr606=)
c.1941A>C (p.Thr647=)
4g.125434273A>GCA441204988FAT4c.7047A>G (p.Thr2349=)
c.1818A>G (p.Thr606=)
c.1941A>G (p.Thr647=)
4g.125434273A>TCA441204989FAT4c.7047A>T (p.Thr2349=)
c.1818A>T (p.Thr606=)
c.1941A>T (p.Thr647=)
4g.125434274A>CCA358135011FAT4c.7048A>C (p.Ile2350Leu)
c.1819A>C (p.Ile607Leu)
c.1942A>C (p.Ile648Leu)
4g.125434274A>GCA358135013FAT4c.7048A>G (p.Ile2350Val)
c.1819A>G (p.Ile607Val)
c.1942A>G (p.Ile648Val)
 gnomAD v4
4g.125434274A>TCA358135015FAT4c.7048A>T (p.Ile2350Phe)
c.1819A>T (p.Ile607Phe)
c.1942A>T (p.Ile648Phe)
4g.125434275T>ACA358135017FAT4c.7049T>A (p.Ile2350Asn)
c.1820T>A (p.Ile607Asn)
c.1943T>A (p.Ile648Asn)
4g.125434275T>CCA358135019FAT4c.7049T>C (p.Ile2350Thr)
c.1820T>C (p.Ile607Thr)
c.1943T>C (p.Ile648Thr)
 dbSNP gnomAD v3 gnomAD v4
4g.125434275T>GCA358135021FAT4c.7049T>G (p.Ile2350Ser)
c.1820T>G (p.Ile607Ser)
c.1943T>G (p.Ile648Ser)
4g.125434275T=CA1491646797FAT4c.7049T= (p.Ile2350=)
c.1820T= (p.Ile607=)
c.1943T= (p.Ile648=)
4g.125434276C>ACA441204990FAT4c.7050C>A (p.Ile2350=)
c.1821C>A (p.Ile607=)
c.1944C>A (p.Ile648=)
4g.125434276C>GCA358135024FAT4c.7050C>G (p.Ile2350Met)
c.1821C>G (p.Ile607Met)
c.1944C>G (p.Ile648Met)
4g.125434276C>TCA441204991FAT4c.7050C>T (p.Ile2350=)
c.1821C>T (p.Ile607=)
c.1944C>T (p.Ile648=)
 gnomAD v4
4g.125434277A>CCA358135027FAT4c.7051A>C (p.Asn2351His)
c.1822A>C (p.Asn608His)
c.1945A>C (p.Asn649His)
4g.125434277A>GCA358135028FAT4c.7051A>G (p.Asn2351Asp)
c.1822A>G (p.Asn608Asp)
c.1945A>G (p.Asn649Asp)
4g.125434277A>TCA358135030FAT4c.7051A>T (p.Asn2351Tyr)
c.1822A>T (p.Asn608Tyr)
c.1945A>T (p.Asn649Tyr)
4g.125434278A=CA1491646798FAT4c.7052A= (p.Asn2351=)
c.1823A= (p.Asn608=)
c.1946A= (p.Asn649=)
4g.125434278A>CCA358135033FAT4c.7052A>C (p.Asn2351Thr)
c.1823A>C (p.Asn608Thr)
c.1946A>C (p.Asn649Thr)
4g.125434278A>GCA3073081FAT4c.7052A>G (p.Asn2351Ser)
c.1823A>G (p.Asn608Ser)
c.1946A>G (p.Asn649Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434278A>TCA358135035FAT4c.7052A>T (p.Asn2351Ile)
c.1823A>T (p.Asn608Ile)
c.1946A>T (p.Asn649Ile)
4g.125434279C>ACA358135040FAT4c.7053C>A (p.Asn2351Lys)
c.1824C>A (p.Asn608Lys)
c.1947C>A (p.Asn649Lys)
4g.125434279C=CA1491646799FAT4c.7053C= (p.Asn2351=)
c.1824C= (p.Asn608=)
c.1947C= (p.Asn649=)
4g.125434279C>GCA3073082FAT4c.7053C>G (p.Asn2351Lys)
c.1824C>G (p.Asn608Lys)
c.1947C>G (p.Asn649Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434279C>TCA3073083FAT4c.7053C>T (p.Asn2351=)
c.1824C>T (p.Asn608=)
c.1947C>T (p.Asn649=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434280G>ACA3073084FAT4c.7054G>A (p.Val2352Ile)
c.1825G>A (p.Val609Ile)
c.1948G>A (p.Val650Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125434280G>CCA358135045FAT4c.7054G>C (p.Val2352Leu)
c.1825G>C (p.Val609Leu)
c.1948G>C (p.Val650Leu)
4g.125434280G=CA1491646800FAT4c.7054G= (p.Val2352=)
c.1825G= (p.Val609=)
c.1948G= (p.Val650=)
4g.125434280G>TCA358135047FAT4c.7054G>T (p.Val2352Phe)
c.1825G>T (p.Val609Phe)
c.1948G>T (p.Val650Phe)
4g.125434281T>ACA358135048FAT4c.7055T>A (p.Val2352Asp)
c.1826T>A (p.Val609Asp)
c.1949T>A (p.Val650Asp)
4g.125434281T>CCA358135049FAT4c.7055T>C (p.Val2352Ala)
c.1826T>C (p.Val609Ala)
c.1949T>C (p.Val650Ala)
4g.125434281T>GCA358135050FAT4c.7055T>G (p.Val2352Gly)
c.1826T>G (p.Val609Gly)
c.1949T>G (p.Val650Gly)
4g.125434282C>ACA441204994FAT4c.7056C>A (p.Val2352=)
c.1827C>A (p.Val609=)
c.1950C>A (p.Val650=)
4g.125434282C>GCA441204992FAT4c.7056C>G (p.Val2352=)
c.1827C>G (p.Val609=)
c.1950C>G (p.Val650=)
4g.125434282C>TCA441204993FAT4c.7056C>T (p.Val2352=)
c.1827C>T (p.Val609=)
c.1950C>T (p.Val650=)
4g.125434283A=CA1491646801FAT4c.7057A= (p.Ile2353=)
c.1828A= (p.Ile610=)
c.1951A= (p.Ile651=)
4g.125434283A>CCA358135054FAT4c.7057A>C (p.Ile2353Leu)
c.1828A>C (p.Ile610Leu)
c.1951A>C (p.Ile651Leu)
4g.125434283A>GCA358135052FAT4c.7057A>G (p.Ile2353Val)
c.1828A>G (p.Ile610Val)
c.1951A>G (p.Ile651Val)
 dbSNP gnomAD v2 gnomAD v4
4g.125434283A>TCA358135051FAT4c.7057A>T (p.Ile2353Leu)
c.1828A>T (p.Ile610Leu)
c.1951A>T (p.Ile651Leu)
4g.125434284T>ACA358135057FAT4c.7058T>A (p.Ile2353Lys)
c.1829T>A (p.Ile610Lys)
c.1952T>A (p.Ile651Lys)
4g.125434284T>CCA358135059FAT4c.7058T>C (p.Ile2353Thr)
c.1829T>C (p.Ile610Thr)
c.1952T>C (p.Ile651Thr)
4g.125434284T>GCA358135061FAT4c.7058T>G (p.Ile2353Arg)
c.1829T>G (p.Ile610Arg)
c.1952T>G (p.Ile651Arg)
4g.125434285A=CA1491646802FAT4c.7059A= (p.Ile2353=)
c.1830A= (p.Ile610=)
c.1953A= (p.Ile651=)
4g.125434285A>CCA441204996FAT4c.7059A>C (p.Ile2353=)
c.1830A>C (p.Ile610=)
c.1953A>C (p.Ile651=)
 dbSNP gnomAD v3 gnomAD v4
4g.125434285A>GCA358135064FAT4c.7059A>G (p.Ile2353Met)
c.1830A>G (p.Ile610Met)
c.1953A>G (p.Ile651Met)
4g.125434285A>TCA441204995FAT4c.7059A>T (p.Ile2353=)
c.1830A>T (p.Ile610=)
c.1953A>T (p.Ile651=)
4g.125434286G>ACA358135066FAT4c.7060G>A (p.Val2354Ile)
c.1831G>A (p.Val611Ile)
c.1954G>A (p.Val652Ile)
4g.125434286G>CCA358135068FAT4c.7060G>C (p.Val2354Leu)
c.1831G>C (p.Val611Leu)
c.1954G>C (p.Val652Leu)
4g.125434286G>TCA358135070FAT4c.7060G>T (p.Val2354Leu)
c.1831G>T (p.Val611Leu)
c.1954G>T (p.Val652Leu)
 ClinVar gnomAD v4
4g.125434287T>ACA358135072FAT4c.7061T>A (p.Val2354Glu)
c.1832T>A (p.Val611Glu)
c.1955T>A (p.Val652Glu)
4g.125434287T>CCA358135074FAT4c.7061T>C (p.Val2354Ala)
c.1832T>C (p.Val611Ala)
c.1955T>C (p.Val652Ala)
4g.125434287T>GCA358135076FAT4c.7061T>G (p.Val2354Gly)
c.1832T>G (p.Val611Gly)
c.1955T>G (p.Val652Gly)
4g.125434288A>CCA441204997FAT4c.7062A>C (p.Val2354=)
c.1833A>C (p.Val611=)
c.1956A>C (p.Val652=)
4g.125434288A>GCA441204998FAT4c.7062A>G (p.Val2354=)
c.1833A>G (p.Val611=)
c.1956A>G (p.Val652=)
 COSMIC COSMIC COSMIC
4g.125434288A>TCA441204999FAT4c.7062A>T (p.Val2354=)
c.1833A>T (p.Val611=)
c.1956A>T (p.Val652=)
4g.125434289G>ACA358135078FAT4c.7063G>A (p.Asp2355Asn)
c.1834G>A (p.Asp612Asn)
c.1957G>A (p.Asp653Asn)
4g.125434289G>CCA358135080FAT4c.7063G>C (p.Asp2355His)
c.1834G>C (p.Asp612His)
c.1957G>C (p.Asp653His)
 dbSNP gnomAD v2 gnomAD v4
4g.125434289G=CA1491646803FAT4c.7063G= (p.Asp2355=)
c.1834G= (p.Asp612=)
c.1957G= (p.Asp653=)
4g.125434289G>TCA358135082FAT4c.7063G>T (p.Asp2355Tyr)
c.1834G>T (p.Asp612Tyr)
c.1957G>T (p.Asp653Tyr)
4g.125434290A=CA1491646804FAT4c.7064A= (p.Asp2355=)
c.1835A= (p.Asp612=)
c.1958A= (p.Asp653=)
4g.125434290A>CCA358135084FAT4c.7064A>C (p.Asp2355Ala)
c.1835A>C (p.Asp612Ala)
c.1958A>C (p.Asp653Ala)
4g.125434290A>GCA358135089FAT4c.7064A>G (p.Asp2355Gly)
c.1835A>G (p.Asp612Gly)
c.1958A>G (p.Asp653Gly)
4g.125434290A>TCA358135087FAT4c.7064A>T (p.Asp2355Val)
c.1835A>T (p.Asp612Val)
c.1958A>T (p.Asp653Val)
 dbSNP gnomAD v3 gnomAD v4
4g.125434291T>ACA358135091FAT4c.7065T>A (p.Asp2355Glu)
c.1836T>A (p.Asp612Glu)
c.1959T>A (p.Asp653Glu)
4g.125434291T>CCA441205000FAT4c.7065T>C (p.Asp2355=)
c.1836T>C (p.Asp612=)
c.1959T>C (p.Asp653=)
 dbSNP gnomAD v4
4g.125434291T>GCA358135092FAT4c.7065T>G (p.Asp2355Glu)
c.1836T>G (p.Asp612Glu)
c.1959T>G (p.Asp653Glu)
 dbSNP gnomAD v2 gnomAD v4
4g.125434291T=CA1491646805FAT4c.7065T= (p.Asp2355=)
c.1836T= (p.Asp612=)
c.1959T= (p.Asp653=)
4g.125434292G>ACA358135094FAT4c.7066G>A (p.Asp2356Asn)
c.1837G>A (p.Asp613Asn)
c.1960G>A (p.Asp654Asn)
 gnomAD v4
4g.125434292G>CCA358135096FAT4c.7066G>C (p.Asp2356His)
c.1837G>C (p.Asp613His)
c.1960G>C (p.Asp654His)
4g.125434292G>TCA358135097FAT4c.7066G>T (p.Asp2356Tyr)
c.1837G>T (p.Asp613Tyr)
c.1960G>T (p.Asp654Tyr)
4g.125434293A>CCA358135099FAT4c.7067A>C (p.Asp2356Ala)
c.1838A>C (p.Asp613Ala)
c.1961A>C (p.Asp654Ala)
4g.125434293A>GCA358135100FAT4c.7067A>G (p.Asp2356Gly)
c.1838A>G (p.Asp613Gly)
c.1961A>G (p.Asp654Gly)
4g.125434293A>TCA358135101FAT4c.7067A>T (p.Asp2356Val)
c.1838A>T (p.Asp613Val)
c.1961A>T (p.Asp654Val)
4g.125434294T>ACA358135103FAT4c.7068T>A (p.Asp2356Glu)
c.1839T>A (p.Asp613Glu)
c.1962T>A (p.Asp654Glu)
4g.125434294T>CCA441205001FAT4c.7068T>C (p.Asp2356=)
c.1839T>C (p.Asp613=)
c.1962T>C (p.Asp654=)
4g.125434294T>GCA3073085FAT4c.7068T>G (p.Asp2356Glu)
c.1839T>G (p.Asp613Glu)
c.1962T>G (p.Asp654Glu)
 dbSNP ExAC gnomAD v2
4g.125434294T=CA1491646806FAT4c.7068T= (p.Asp2356=)
c.1839T= (p.Asp613=)
c.1962T= (p.Asp654=)
4g.125434295G>ACA358135109FAT4c.7069G>A (p.Val2357Ile)
c.1840G>A (p.Val614Ile)
c.1963G>A (p.Val655Ile)
4g.125434295G>CCA358135108FAT4c.7069G>C (p.Val2357Leu)
c.1840G>C (p.Val614Leu)
c.1963G>C (p.Val655Leu)
4g.125434295G>TCA358135107FAT4c.7069G>T (p.Val2357Phe)
c.1840G>T (p.Val614Phe)
c.1963G>T (p.Val655Phe)
4g.125434296T>ACA358135111FAT4c.7070T>A (p.Val2357Asp)
c.1841T>A (p.Val614Asp)
c.1964T>A (p.Val655Asp)
 COSMIC COSMIC
4g.125434296T>CCA358135114FAT4c.7070T>C (p.Val2357Ala)
c.1841T>C (p.Val614Ala)
c.1964T>C (p.Val655Ala)
4g.125434296T>GCA358135113FAT4c.7070T>G (p.Val2357Gly)
c.1841T>G (p.Val614Gly)
c.1964T>G (p.Val655Gly)
4g.125434297C>ACA441205004FAT4c.7071C>A (p.Val2357=)
c.1842C>A (p.Val614=)
c.1965C>A (p.Val655=)
4g.125434297C=CA1491646807FAT4c.7071C= (p.Val2357=)
c.1842C= (p.Val614=)
c.1965C= (p.Val655=)
4g.125434297C>GCA441205002FAT4c.7071C>G (p.Val2357=)
c.1842C>G (p.Val614=)
c.1965C>G (p.Val655=)
4g.125434297C>TCA441205003FAT4c.7071C>T (p.Val2357=)
c.1842C>T (p.Val614=)
c.1965C>T (p.Val655=)
 dbSNP
4g.125434298A=CA1491646808FAT4c.7072A= (p.Asn2358=)
c.1843A= (p.Asn615=)
c.1966A= (p.Asn656=)
4g.125434298A>CCA358135116FAT4c.7072A>C (p.Asn2358His)
c.1843A>C (p.Asn615His)
c.1966A>C (p.Asn656His)
4g.125434298A>GCA3073086FAT4c.7072A>G (p.Asn2358Asp)
c.1843A>G (p.Asn615Asp)
c.1966A>G (p.Asn656Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434298A>TCA358135118FAT4c.7072A>T (p.Asn2358Tyr)
c.1843A>T (p.Asn615Tyr)
c.1966A>T (p.Asn656Tyr)
4g.125434299A>CCA358135121FAT4c.7073A>C (p.Asn2358Thr)
c.1844A>C (p.Asn615Thr)
c.1967A>C (p.Asn656Thr)
4g.125434299A>GCA358135122FAT4c.7073A>G (p.Asn2358Ser)
c.1844A>G (p.Asn615Ser)
c.1967A>G (p.Asn656Ser)
4g.125434299A>TCA358135124FAT4c.7073A>T (p.Asn2358Ile)
c.1844A>T (p.Asn615Ile)
c.1967A>T (p.Asn656Ile)
4g.125434300T>ACA358135127FAT4c.7074T>A (p.Asn2358Lys)
c.1845T>A (p.Asn615Lys)
c.1968T>A (p.Asn656Lys)
4g.125434300T>CCA441205005FAT4c.7074T>C (p.Asn2358=)
c.1845T>C (p.Asn615=)
c.1968T>C (p.Asn656=)
 gnomAD v4 COSMIC COSMIC
4g.125434300T>GCA358135129FAT4c.7074T>G (p.Asn2358Lys)
c.1845T>G (p.Asn615Lys)
c.1968T>G (p.Asn656Lys)
4g.125434301G>ACA358135130FAT4c.7075G>A (p.Asp2359Asn)
c.1846G>A (p.Asp616Asn)
c.1969G>A (p.Asp657Asn)
4g.125434301G>CCA358135131FAT4c.7075G>C (p.Asp2359His)
c.1846G>C (p.Asp616His)
c.1969G>C (p.Asp657His)
4g.125434301G>TCA358135133FAT4c.7075G>T (p.Asp2359Tyr)
c.1846G>T (p.Asp616Tyr)
c.1969G>T (p.Asp657Tyr)
4g.125434302A>CCA358135136FAT4c.7076A>C (p.Asp2359Ala)
c.1847A>C (p.Asp616Ala)
c.1970A>C (p.Asp657Ala)
4g.125434302A>GCA358135135FAT4c.7076A>G (p.Asp2359Gly)
c.1847A>G (p.Asp616Gly)
c.1970A>G (p.Asp657Gly)
4g.125434302A>TCA358135134FAT4c.7076A>T (p.Asp2359Val)
c.1847A>T (p.Asp616Val)
c.1970A>T (p.Asp657Val)
4g.125434303C>ACA358135137FAT4c.7077C>A (p.Asp2359Glu)
c.1848C>A (p.Asp616Glu)
c.1971C>A (p.Asp657Glu)
4g.125434303C>GCA358135138FAT4c.7077C>G (p.Asp2359Glu)
c.1848C>G (p.Asp616Glu)
c.1971C>G (p.Asp657Glu)
4g.125434303C>TCA441205006FAT4c.7077C>T (p.Asp2359=)
c.1848C>T (p.Asp616=)
c.1971C>T (p.Asp657=)
4g.125434304A>CCA358135139FAT4c.7078A>C (p.Asn2360His)
c.1849A>C (p.Asn617His)
c.1972A>C (p.Asn658His)
4g.125434304A>GCA358135140FAT4c.7078A>G (p.Asn2360Asp)
c.1849A>G (p.Asn617Asp)
c.1972A>G (p.Asn658Asp)
4g.125434304A>TCA358135141FAT4c.7078A>T (p.Asn2360Tyr)
c.1849A>T (p.Asn617Tyr)
c.1972A>T (p.Asn658Tyr)
4g.125434305A=CA1491646809FAT4c.7079A= (p.Asn2360=)
c.1850A= (p.Asn617=)
c.1973A= (p.Asn658=)
4g.125434305A>CCA358135142FAT4c.7079A>C (p.Asn2360Thr)
c.1850A>C (p.Asn617Thr)
c.1973A>C (p.Asn658Thr)
4g.125434305A>GCA3073087FAT4c.7079A>G (p.Asn2360Ser)
c.1850A>G (p.Asn617Ser)
c.1973A>G (p.Asn658Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434305A>TCA358135144FAT4c.7079A>T (p.Asn2360Ile)
c.1850A>T (p.Asn617Ile)
c.1973A>T (p.Asn658Ile)
4g.125434306T>ACA358135145FAT4c.7080T>A (p.Asn2360Lys)
c.1851T>A (p.Asn617Lys)
c.1974T>A (p.Asn658Lys)
4g.125434306T>CCA3073088FAT4c.7080T>C (p.Asn2360=)
c.1851T>C (p.Asn617=)
c.1974T>C (p.Asn658=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434306T>GCA358135147FAT4c.7080T>G (p.Asn2360Lys)
c.1851T>G (p.Asn617Lys)
c.1974T>G (p.Asn658Lys)
4g.125434306T=CA1491646810FAT4c.7080T= (p.Asn2360=)
c.1851T= (p.Asn617=)
c.1974T= (p.Asn658=)
4g.125434307G>ACA358135152FAT4c.7081G>A (p.Val2361Ile)
c.1852G>A (p.Val618Ile)
c.1975G>A (p.Val659Ile)
 dbSNP
4g.125434307G>CCA358135150FAT4c.7081G>C (p.Val2361Leu)
c.1852G>C (p.Val618Leu)
c.1975G>C (p.Val659Leu)
4g.125434307G=CA1491646811FAT4c.7081G= (p.Val2361=)
c.1852G= (p.Val618=)
c.1975G= (p.Val659=)
4g.125434307G>TCA358135149FAT4c.7081G>T (p.Val2361Phe)
c.1852G>T (p.Val618Phe)
c.1975G>T (p.Val659Phe)
4g.125434308T>ACA358135153FAT4c.7082T>A (p.Val2361Asp)
c.1853T>A (p.Val618Asp)
c.1976T>A (p.Val659Asp)
4g.125434308T>CCA358135155FAT4c.7082T>C (p.Val2361Ala)
c.1853T>C (p.Val618Ala)
c.1976T>C (p.Val659Ala)
 COSMIC COSMIC
4g.125434308T>GCA358135156FAT4c.7082T>G (p.Val2361Gly)
c.1853T>G (p.Val618Gly)
c.1976T>G (p.Val659Gly)
4g.125434309C>ACA3073089FAT4c.7083C>A (p.Val2361=)
c.1854C>A (p.Val618=)
c.1977C>A (p.Val659=)
 dbSNP ExAC gnomAD v2
4g.125434309C=CA1491646812FAT4c.7083C= (p.Val2361=)
c.1854C= (p.Val618=)
c.1977C= (p.Val659=)
4g.125434309C>GCA441205007FAT4c.7083C>G (p.Val2361=)
c.1854C>G (p.Val618=)
c.1977C>G (p.Val659=)
4g.125434309C>TCA441205008FAT4c.7083C>T (p.Val2361=)
c.1854C>T (p.Val618=)
c.1977C>T (p.Val659=)
4g.125434310C>ACA358135161FAT4c.7084C>A (p.Pro2362Thr)
c.1855C>A (p.Pro619Thr)
c.1978C>A (p.Pro660Thr)
4g.125434310C>GCA358135162FAT4c.7084C>G (p.Pro2362Ala)
c.1855C>G (p.Pro619Ala)
c.1978C>G (p.Pro660Ala)
 gnomAD v4
4g.125434310C>TCA358135163FAT4c.7084C>T (p.Pro2362Ser)
c.1855C>T (p.Pro619Ser)
c.1978C>T (p.Pro660Ser)
 gnomAD v3 gnomAD v4
4g.125434311C>ACA358135165FAT4c.7085C>A (p.Pro2362His)
c.1856C>A (p.Pro619His)
c.1979C>A (p.Pro660His)
4g.125434311C>GCA358135167FAT4c.7085C>G (p.Pro2362Arg)
c.1856C>G (p.Pro619Arg)
c.1979C>G (p.Pro660Arg)
4g.125434311C>TCA358135168FAT4c.7085C>T (p.Pro2362Leu)
c.1856C>T (p.Pro619Leu)
c.1979C>T (p.Pro660Leu)
4g.125434312C>ACA441205009FAT4c.7086C>A (p.Pro2362=)
c.1857C>A (p.Pro619=)
c.1980C>A (p.Pro660=)
4g.125434312C>GCA441205010FAT4c.7086C>G (p.Pro2362=)
c.1857C>G (p.Pro619=)
c.1980C>G (p.Pro660=)
4g.125434312C>TCA441205011FAT4c.7086C>T (p.Pro2362=)
c.1857C>T (p.Pro619=)
c.1980C>T (p.Pro660=)
4g.125434313A>CCA358135169FAT4c.7087A>C (p.Thr2363Pro)
c.1858A>C (p.Thr620Pro)
c.1981A>C (p.Thr661Pro)
4g.125434313A>GCA358135170FAT4c.7087A>G (p.Thr2363Ala)
c.1858A>G (p.Thr620Ala)
c.1981A>G (p.Thr661Ala)
 COSMIC COSMIC
4g.125434313A>TCA358135171FAT4c.7087A>T (p.Thr2363Ser)
c.1858A>T (p.Thr620Ser)
c.1981A>T (p.Thr661Ser)
4g.125434314C>ACA358135175FAT4c.7088C>A (p.Thr2363Lys)
c.1859C>A (p.Thr620Lys)
c.1982C>A (p.Thr661Lys)
4g.125434314C=CA1491646813FAT4c.7088C= (p.Thr2363=)
c.1859C= (p.Thr620=)
c.1982C= (p.Thr661=)
4g.125434314C>GCA358135172FAT4c.7088C>G (p.Thr2363Arg)
c.1859C>G (p.Thr620Arg)
c.1982C>G (p.Thr661Arg)
 gnomAD v4
4g.125434314C>TCA3073090FAT4c.7088C>T (p.Thr2363Ile)
c.1859C>T (p.Thr620Ile)
c.1982C>T (p.Thr661Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434315A>CCA441205012FAT4c.7089A>C (p.Thr2363=)
c.1860A>C (p.Thr620=)
c.1983A>C (p.Thr661=)
4g.125434315A>GCA441205013FAT4c.7089A>G (p.Thr2363=)
c.1860A>G (p.Thr620=)
c.1983A>G (p.Thr661=)
 gnomAD v4
4g.125434315A>TCA441205014FAT4c.7089A>T (p.Thr2363=)
c.1860A>T (p.Thr620=)
c.1983A>T (p.Thr661=)
4g.125434316T>ACA358135176FAT4c.7090T>A (p.Phe2364Ile)
c.1861T>A (p.Phe621Ile)
c.1984T>A (p.Phe662Ile)
4g.125434316T>CCA358135177FAT4c.7090T>C (p.Phe2364Leu)
c.1861T>C (p.Phe621Leu)
c.1984T>C (p.Phe662Leu)
4g.125434316T>GCA358135179FAT4c.7090T>G (p.Phe2364Val)
c.1861T>G (p.Phe621Val)
c.1984T>G (p.Phe662Val)
4g.125434317T>ACA104869251FAT4c.7091T>A (p.Phe2364Tyr)
c.1862T>A (p.Phe621Tyr)
c.1985T>A (p.Phe662Tyr)
 dbSNP gnomAD v3 gnomAD v4
4g.125434317T>CCA358135182FAT4c.7091T>C (p.Phe2364Ser)
c.1862T>C (p.Phe621Ser)
c.1985T>C (p.Phe662Ser)
4g.125434317T>GCA358135183FAT4c.7091T>G (p.Phe2364Cys)
c.1862T>G (p.Phe621Cys)
c.1985T>G (p.Phe662Cys)
4g.125434317T=CA1491646814FAT4c.7091T= (p.Phe2364=)
c.1862T= (p.Phe621=)
c.1985T= (p.Phe662=)
4g.125434318T>ACA358135185FAT4c.7092T>A (p.Phe2364Leu)
c.1863T>A (p.Phe621Leu)
c.1986T>A (p.Phe662Leu)
4g.125434318T>CCA3073091FAT4c.7092T>C (p.Phe2364=)
c.1863T>C (p.Phe621=)
c.1986T>C (p.Phe662=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434318T>GCA358135187FAT4c.7092T>G (p.Phe2364Leu)
c.1863T>G (p.Phe621Leu)
c.1986T>G (p.Phe662Leu)
4g.125434318T=CA1491646815FAT4c.7092T= (p.Phe2364=)
c.1863T= (p.Phe621=)
c.1986T= (p.Phe662=)
4g.125434319G>ACA358135188FAT4c.7093G>A (p.Ala2365Thr)
c.1864G>A (p.Ala622Thr)
c.1987G>A (p.Ala663Thr)
4g.125434319G>CCA358135189FAT4c.7093G>C (p.Ala2365Pro)
c.1864G>C (p.Ala622Pro)
c.1987G>C (p.Ala663Pro)
4g.125434319G=CA1491646816FAT4c.7093G= (p.Ala2365=)
c.1864G= (p.Ala622=)
c.1987G= (p.Ala663=)
4g.125434319G>TCA358135191FAT4c.7093G>T (p.Ala2365Ser)
c.1864G>T (p.Ala622Ser)
c.1987G>T (p.Ala663Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.125434320C>ACA358135194FAT4c.7094C>A (p.Ala2365Asp)
c.1865C>A (p.Ala622Asp)
c.1988C>A (p.Ala663Asp)
4g.125434320C=CA1491646817FAT4c.7094C= (p.Ala2365=)
c.1865C= (p.Ala622=)
c.1988C= (p.Ala663=)
4g.125434320C>GCA3073092FAT4c.7094C>G (p.Ala2365Gly)
c.1865C>G (p.Ala622Gly)
c.1988C>G (p.Ala663Gly)
 dbSNP ExAC gnomAD v2
4g.125434320C>TCA358135192FAT4c.7094C>T (p.Ala2365Val)
c.1865C>T (p.Ala622Val)
c.1988C>T (p.Ala663Val)
4g.125434321C>ACA441205015FAT4c.7095C>A (p.Ala2365=)
c.1866C>A (p.Ala622=)
c.1989C>A (p.Ala663=)
4g.125434321C>GCA441205016FAT4c.7095C>G (p.Ala2365=)
c.1866C>G (p.Ala622=)
c.1989C>G (p.Ala663=)
4g.125434321C>TCA441205017FAT4c.7095C>T (p.Ala2365=)
c.1866C>T (p.Ala622=)
c.1989C>T (p.Ala663=)
4g.125434322A=CA1491646818FAT4c.7096A= (p.Ser2366=)
c.1867A= (p.Ser623=)
c.1990A= (p.Ser664=)
4g.125434322A>CCA358135199FAT4c.7096A>C (p.Ser2366Arg)
c.1867A>C (p.Ser623Arg)
c.1990A>C (p.Ser664Arg)
 dbSNP
4g.125434322A>GCA358135196FAT4c.7096A>G (p.Ser2366Gly)
c.1867A>G (p.Ser623Gly)
c.1990A>G (p.Ser664Gly)
4g.125434322A>TCA358135198FAT4c.7096A>T (p.Ser2366Cys)
c.1867A>T (p.Ser623Cys)
c.1990A>T (p.Ser664Cys)
 gnomAD v4
4g.125434323G>ACA358135201FAT4c.7097G>A (p.Ser2366Asn)
c.1868G>A (p.Ser623Asn)
c.1991G>A (p.Ser664Asn)
4g.125434323G>CCA358135203FAT4c.7097G>C (p.Ser2366Thr)
c.1868G>C (p.Ser623Thr)
c.1991G>C (p.Ser664Thr)
4g.125434323G>TCA358135204FAT4c.7097G>T (p.Ser2366Ile)
c.1868G>T (p.Ser623Ile)
c.1991G>T (p.Ser664Ile)
 COSMIC COSMIC
4g.125434324T>ACA358135205FAT4c.7098T>A (p.Ser2366Arg)
c.1869T>A (p.Ser623Arg)
c.1992T>A (p.Ser664Arg)
4g.125434324T>CCA3073093FAT4c.7098T>C (p.Ser2366=)
c.1869T>C (p.Ser623=)
c.1992T>C (p.Ser664=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434324T>GCA358135207FAT4c.7098T>G (p.Ser2366Arg)
c.1869T>G (p.Ser623Arg)
c.1992T>G (p.Ser664Arg)
4g.125434324T=CA1491646819FAT4c.7098T= (p.Ser2366=)
c.1869T= (p.Ser623=)
c.1992T= (p.Ser664=)
4g.125434325A=CA1491646820FAT4c.7099A= (p.Lys2367=)
c.1870A= (p.Lys624=)
c.1993A= (p.Lys665=)
4g.125434325A>CCA358135209FAT4c.7099A>C (p.Lys2367Gln)
c.1870A>C (p.Lys624Gln)
c.1993A>C (p.Lys665Gln)
4g.125434325A>GCA358135211FAT4c.7099A>G (p.Lys2367Glu)
c.1870A>G (p.Lys624Glu)
c.1993A>G (p.Lys665Glu)
 dbSNP gnomAD v4 COSMIC
4g.125434325A>TCA358135212FAT4c.7099A>T (p.Lys2367Ter)
c.1870A>T (p.Lys624Ter)
c.1993A>T (p.Lys665Ter)
4g.125434326A>CCA358135213FAT4c.7100A>C (p.Lys2367Thr)
c.1871A>C (p.Lys624Thr)
c.1994A>C (p.Lys665Thr)
4g.125434326A>GCA358135215FAT4c.7100A>G (p.Lys2367Arg)
c.1871A>G (p.Lys624Arg)
c.1994A>G (p.Lys665Arg)
4g.125434326A>TCA358135217FAT4c.7100A>T (p.Lys2367Ile)
c.1871A>T (p.Lys624Ile)
c.1994A>T (p.Lys665Ile)
4g.125434327A=CA1491646821FAT4c.7101A= (p.Lys2367=)
c.1872A= (p.Lys624=)
c.1995A= (p.Lys665=)
4g.125434327A>CCA358135218FAT4c.7101A>C (p.Lys2367Asn)
c.1872A>C (p.Lys624Asn)
c.1995A>C (p.Lys665Asn)
4g.125434327A>GCA441205018FAT4c.7101A>G (p.Lys2367=)
c.1872A>G (p.Lys624=)
c.1995A>G (p.Lys665=)
 dbSNP gnomAD v2 gnomAD v4
4g.125434327A>TCA358135220FAT4c.7101A>T (p.Lys2367Asn)
c.1872A>T (p.Lys624Asn)
c.1995A>T (p.Lys665Asn)
4g.125434328G>ACA358135221FAT4c.7102G>A (p.Ala2368Thr)
c.1873G>A (p.Ala625Thr)
c.1996G>A (p.Ala666Thr)
4g.125434328G>CCA358135222FAT4c.7102G>C (p.Ala2368Pro)
c.1873G>C (p.Ala625Pro)
c.1996G>C (p.Ala666Pro)
4g.125434328G>TCA358135223FAT4c.7102G>T (p.Ala2368Ser)
c.1873G>T (p.Ala625Ser)
c.1996G>T (p.Ala666Ser)

Number of alleles fetched