Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.7582933_7587670delinsAGAACAGTCTTCA2580075482 ClinVar
6g.7582933_7587670delinsAGAGAAGAACAGTCTTCA915944145 ClinVar
6g.7582934_7587655delCA2695202641
6g.7583301_7585800delCA006686DSPc.4710_7209del (p.Gly1571GlufsTer?)
c.6039_8538del (p.Gly2014GlufsTer?)
c.4242_6741del (p.Gly1415GlufsTer?)
6g.7584310_7584311delCA2695205960DSPc.5719_5720del (p.Leu1907ValfsTer6)
c.7048_7049del (p.Leu2350ValfsTer6)
c.5251_5252del (p.Leu1751ValfsTer6)
6g.7584310T>ACA362692112DSPc.5719T>A (p.Leu1907Met)
c.7048T>A (p.Leu2350Met)
c.5251T>A (p.Leu1751Met)
6g.7584310T>CCA448716161DSPc.5719T>C (p.Leu1907=)
c.7048T>C (p.Leu2350=)
c.5251T>C (p.Leu1751=)
6g.7584310T>GCA362692111DSPc.5719T>G (p.Leu1907Val)
c.7048T>G (p.Leu2350Val)
c.5251T>G (p.Leu1751Val)
 COSMIC
6g.7584311T>ACA362692113DSPc.5720T>A (p.Leu1907Ter)
c.7049T>A (p.Leu2350Ter)
c.5252T>A (p.Leu1751Ter)
6g.7584311T>CCA362692114DSPc.5720T>C (p.Leu1907Ser)
c.7049T>C (p.Leu2350Ser)
c.5252T>C (p.Leu1751Ser)
6g.7584311T>GCA362692115DSPc.5720T>G (p.Leu1907Trp)
c.7049T>G (p.Leu2350Trp)
c.5252T>G (p.Leu1751Trp)
6g.7584312G>ACA448716164DSPc.5721G>A (p.Leu1907=)
c.7050G>A (p.Leu2350=)
c.5253G>A (p.Leu1751=)
6g.7584312G>CCA362692116DSPc.5721G>C (p.Leu1907Phe)
c.7050G>C (p.Leu2350Phe)
c.5253G>C (p.Leu1751Phe)
6g.7584312G>TCA362692117DSPc.5721G>T (p.Leu1907Phe)
c.7050G>T (p.Leu2350Phe)
c.5253G>T (p.Leu1751Phe)
 gnomAD v4
6g.7584313T>ACA362692118DSPc.5722T>A (p.Phe1908Ile)
c.7051T>A (p.Phe2351Ile)
c.5254T>A (p.Phe1752Ile)
6g.7584313T>CCA362692119DSPc.5722T>C (p.Phe1908Leu)
c.7051T>C (p.Phe2351Leu)
c.5254T>C (p.Phe1752Leu)
6g.7584313T>GCA362692120DSPc.5722T>G (p.Phe1908Val)
c.7051T>G (p.Phe2351Val)
c.5254T>G (p.Phe1752Val)
 gnomAD v4
6g.7584314T>ACA362692121DSPc.5723T>A (p.Phe1908Tyr)
c.7052T>A (p.Phe2351Tyr)
c.5255T>A (p.Phe1752Tyr)
 dbSNP
6g.7584314T>CCA362692122DSPc.5723T>C (p.Phe1908Ser)
c.7052T>C (p.Phe2351Ser)
c.5255T>C (p.Phe1752Ser)
6g.7584314T>GCA362692123DSPc.5723T>G (p.Phe1908Cys)
c.7052T>G (p.Phe2351Cys)
c.5255T>G (p.Phe1752Cys)
6g.7584314T=CA1608610882DSPc.5723T= (p.Phe1908=)
c.7052T= (p.Phe2351=)
c.5255T= (p.Phe1752=)
6g.7584315C>ACA362692124DSPc.5724C>A (p.Phe1908Leu)
c.7053C>A (p.Phe2351Leu)
c.5256C>A (p.Phe1752Leu)
6g.7584315C>GCA362692125DSPc.5724C>G (p.Phe1908Leu)
c.7053C>G (p.Phe2351Leu)
c.5256C>G (p.Phe1752Leu)
6g.7584315C>TCA448716174DSPc.5724C>T (p.Phe1908=)
c.7053C>T (p.Phe2351=)
c.5256C>T (p.Phe1752=)
6g.7584316C>ACA362692128DSPc.5725C>A (p.Gln1909Lys)
c.7054C>A (p.Gln2352Lys)
c.5257C>A (p.Gln1753Lys)
6g.7584316C>GCA362692127DSPc.5725C>G (p.Gln1909Glu)
c.7054C>G (p.Gln2352Glu)
c.5257C>G (p.Gln1753Glu)
6g.7584316C>TCA362692126DSPc.5725C>T (p.Gln1909Ter)
c.7054C>T (p.Gln2352Ter)
c.5257C>T (p.Gln1753Ter)
 ClinVar gnomAD v4
6g.7584317A>CCA362692129DSPc.5726A>C (p.Gln1909Pro)
c.7055A>C (p.Gln2352Pro)
c.5258A>C (p.Gln1753Pro)
6g.7584317A>GCA362692130DSPc.5726A>G (p.Gln1909Arg)
c.7055A>G (p.Gln2352Arg)
c.5258A>G (p.Gln1753Arg)
6g.7584317A>TCA362692131DSPc.5726A>T (p.Gln1909Leu)
c.7055A>T (p.Gln2352Leu)
c.5258A>T (p.Gln1753Leu)
6g.7584318A>CCA362692132DSPc.5727A>C (p.Gln1909His)
c.7056A>C (p.Gln2352His)
c.5259A>C (p.Gln1753His)
6g.7584318A>GCA448716179DSPc.5727A>G (p.Gln1909=)
c.7056A>G (p.Gln2352=)
c.5259A>G (p.Gln1753=)
6g.7584318A>TCA362692133DSPc.5727A>T (p.Gln1909His)
c.7056A>T (p.Gln2352His)
c.5259A>T (p.Gln1753His)
6g.7584319G>ACA362692134DSPc.5728G>A (p.Ala1910Thr)
c.7057G>A (p.Ala2353Thr)
c.5260G>A (p.Ala1754Thr)
6g.7584319G>CCA362692135DSPc.5728G>C (p.Ala1910Pro)
c.7057G>C (p.Ala2353Pro)
c.5260G>C (p.Ala1754Pro)
6g.7584319G>TCA362692136DSPc.5728G>T (p.Ala1910Ser)
c.7057G>T (p.Ala2353Ser)
c.5260G>T (p.Ala1754Ser)
6g.7584320C>ACA362692137DSPc.5729C>A (p.Ala1910Asp)
c.7058C>A (p.Ala2353Asp)
c.5261C>A (p.Ala1754Asp)
6g.7584320C>GCA362692138DSPc.5729C>G (p.Ala1910Gly)
c.7058C>G (p.Ala2353Gly)
c.5261C>G (p.Ala1754Gly)
6g.7584320C>TCA362692139DSPc.5729C>T (p.Ala1910Val)
c.7058C>T (p.Ala2353Val)
c.5261C>T (p.Ala1754Val)
6g.7584321C>ACA448716185DSPc.5730C>A (p.Ala1910=)
c.7059C>A (p.Ala2353=)
c.5262C>A (p.Ala1754=)
6g.7584321C>GCA448716190DSPc.5730C>G (p.Ala1910=)
c.7059C>G (p.Ala2353=)
c.5262C>G (p.Ala1754=)
 gnomAD v4
6g.7584321C>TCA448716187DSPc.5730C>T (p.Ala1910=)
c.7059C>T (p.Ala2353=)
c.5262C>T (p.Ala1754=)
6g.7584322A=CA1608610892DSPc.5731A= (p.Met1911=)
c.7060A= (p.Met2354=)
c.5263A= (p.Met1755=)
6g.7584322A>CCA362692140DSPc.5731A>C (p.Met1911Leu)
c.7060A>C (p.Met2354Leu)
c.5263A>C (p.Met1755Leu)
6g.7584322A>GCA362692141DSPc.5731A>G (p.Met1911Val)
c.7060A>G (p.Met2354Val)
c.5263A>G (p.Met1755Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7584322A>TCA362692142DSPc.5731A>T (p.Met1911Leu)
c.7060A>T (p.Met2354Leu)
c.5263A>T (p.Met1755Leu)
 gnomAD v4
6g.7584323T>ACA362692145DSPc.5732T>A (p.Met1911Lys)
c.7061T>A (p.Met2354Lys)
c.5264T>A (p.Met1755Lys)
6g.7584323T>CCA362692144DSPc.5732T>C (p.Met1911Thr)
c.7061T>C (p.Met2354Thr)
c.5264T>C (p.Met1755Thr)
6g.7584323T>GCA362692143DSPc.5732T>G (p.Met1911Arg)
c.7061T>G (p.Met2354Arg)
c.5264T>G (p.Met1755Arg)
6g.7584324G>ACA362692146DSPc.5733G>A (p.Met1911Ile)
c.7062G>A (p.Met2354Ile)
c.5265G>A (p.Met1755Ile)
6g.7584324G>CCA362692147DSPc.5733G>C (p.Met1911Ile)
c.7062G>C (p.Met2354Ile)
c.5265G>C (p.Met1755Ile)
6g.7584324G>TCA362692148DSPc.5733G>T (p.Met1911Ile)
c.7062G>T (p.Met2354Ile)
c.5265G>T (p.Met1755Ile)
6g.7584325A>CCA362692149DSPc.5734A>C (p.Asn1912His)
c.7063A>C (p.Asn2355His)
c.5266A>C (p.Asn1756His)
6g.7584325A>GCA362692150DSPc.5734A>G (p.Asn1912Asp)
c.7063A>G (p.Asn2355Asp)
c.5266A>G (p.Asn1756Asp)
6g.7584325A>TCA362692151DSPc.5734A>T (p.Asn1912Tyr)
c.7063A>T (p.Asn2355Tyr)
c.5266A>T (p.Asn1756Tyr)
6g.7584326A>CCA362692154DSPc.5735A>C (p.Asn1912Thr)
c.7064A>C (p.Asn2355Thr)
c.5267A>C (p.Asn1756Thr)
6g.7584326A>GCA362692152DSPc.5735A>G (p.Asn1912Ser)
c.7064A>G (p.Asn2355Ser)
c.5267A>G (p.Asn1756Ser)
6g.7584326A>TCA362692153DSPc.5735A>T (p.Asn1912Ile)
c.7064A>T (p.Asn2355Ile)
c.5267A>T (p.Asn1756Ile)
6g.7584327T>ACA362692155DSPc.5736T>A (p.Asn1912Lys)
c.7065T>A (p.Asn2355Lys)
c.5268T>A (p.Asn1756Lys)
6g.7584327T>CCA448716199DSPc.5736T>C (p.Asn1912=)
c.7065T>C (p.Asn2355=)
c.5268T>C (p.Asn1756=)
6g.7584327T>GCA362692156DSPc.5736T>G (p.Asn1912Lys)
c.7065T>G (p.Asn2355Lys)
c.5268T>G (p.Asn1756Lys)
6g.7584328A=CA1608610897DSPc.5737A= (p.Lys1913=)
c.7066A= (p.Lys2356=)
c.5269A= (p.Lys1757=)
6g.7584328A>CCA362692157DSPc.5737A>C (p.Lys1913Gln)
c.7066A>C (p.Lys2356Gln)
c.5269A>C (p.Lys1757Gln)
6g.7584328A>GCA362692158DSPc.5737A>G (p.Lys1913Glu)
c.7066A>G (p.Lys2356Glu)
c.5269A>G (p.Lys1757Glu)
6g.7584328A>TCA362692159DSPc.5737A>T (p.Lys1913Ter)
c.7066A>T (p.Lys2356Ter)
c.5269A>T (p.Lys1757Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7584329A=CA1608610903DSPc.5738A= (p.Lys1913=)
c.7067A= (p.Lys2356=)
c.5270A= (p.Lys1757=)
6g.7584329A>CCA049050DSPc.5738A>C (p.Lys1913Thr)
c.7067A>C (p.Lys2356Thr)
c.5270A>C (p.Lys1757Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.7584329A>GCA362692161DSPc.5738A>G (p.Lys1913Arg)
c.7067A>G (p.Lys2356Arg)
c.5270A>G (p.Lys1757Arg)
6g.7584329A>TCA362692160DSPc.5738A>T (p.Lys1913Met)
c.7067A>T (p.Lys2356Met)
c.5270A>T (p.Lys1757Met)
6g.7584330G>ACA049064DSPc.5739G>A (p.Lys1913=)
c.7068G>A (p.Lys2356=)
c.5271G>A (p.Lys1757=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7584330G>CCA362692162DSPc.5739G>C (p.Lys1913Asn)
c.7068G>C (p.Lys2356Asn)
c.5271G>C (p.Lys1757Asn)
6g.7584330G=CA1608610912DSPc.5739G= (p.Lys1913=)
c.7068G= (p.Lys2356=)
c.5271G= (p.Lys1757=)
6g.7584330G>TCA362692163DSPc.5739G>T (p.Lys1913Asn)
c.7068G>T (p.Lys2356Asn)
c.5271G>T (p.Lys1757Asn)
6g.7584331G>ACA362692164DSPc.5740G>A (p.Glu1914Lys)
c.7069G>A (p.Glu2357Lys)
c.5272G>A (p.Glu1758Lys)
 gnomAD v4
6g.7584331G>CCA362692165DSPc.5740G>C (p.Glu1914Gln)
c.7069G>C (p.Glu2357Gln)
c.5272G>C (p.Glu1758Gln)
 ClinVar gnomAD v4
6g.7584331G>TCA362692166DSPc.5740G>T (p.Glu1914Ter)
c.7069G>T (p.Glu2357Ter)
c.5272G>T (p.Glu1758Ter)
6g.7584332A>CCA362692167DSPc.5741A>C (p.Glu1914Ala)
c.7070A>C (p.Glu2357Ala)
c.5273A>C (p.Glu1758Ala)
6g.7584332A>GCA362692168DSPc.5741A>G (p.Glu1914Gly)
c.7070A>G (p.Glu2357Gly)
c.5273A>G (p.Glu1758Gly)
6g.7584332A>TCA362692169DSPc.5741A>T (p.Glu1914Val)
c.7070A>T (p.Glu2357Val)
c.5273A>T (p.Glu1758Val)
6g.7584333A>CCA362692170DSPc.5742A>C (p.Glu1914Asp)
c.7071A>C (p.Glu2357Asp)
c.5274A>C (p.Glu1758Asp)
 gnomAD v4
6g.7584333A>GCA448716215DSPc.5742A>G (p.Glu1914=)
c.7071A>G (p.Glu2357=)
c.5274A>G (p.Glu1758=)
6g.7584333A>TCA362692171DSPc.5742A>T (p.Glu1914Asp)
c.7071A>T (p.Glu2357Asp)
c.5274A>T (p.Glu1758Asp)
 COSMIC
6g.7584334C>ACA362692174DSPc.5743C>A (p.Leu1915Ile)
c.7072C>A (p.Leu2358Ile)
c.5275C>A (p.Leu1759Ile)
6g.7584334C>GCA362692172DSPc.5743C>G (p.Leu1915Val)
c.7072C>G (p.Leu2358Val)
c.5275C>G (p.Leu1759Val)
6g.7584334C>TCA362692173DSPc.5743C>T (p.Leu1915Phe)
c.7072C>T (p.Leu2358Phe)
c.5275C>T (p.Leu1759Phe)
6g.7584335T>ACA362692175DSPc.5744T>A (p.Leu1915His)
c.7073T>A (p.Leu2358His)
c.5276T>A (p.Leu1759His)
6g.7584335T>CCA362692176DSPc.5744T>C (p.Leu1915Pro)
c.7073T>C (p.Leu2358Pro)
c.5276T>C (p.Leu1759Pro)
6g.7584335T>GCA362692177DSPc.5744T>G (p.Leu1915Arg)
c.7073T>G (p.Leu2358Arg)
c.5276T>G (p.Leu1759Arg)
6g.7584336C>ACA448716225DSPc.5745C>A (p.Leu1915=)
c.7074C>A (p.Leu2358=)
c.5277C>A (p.Leu1759=)
6g.7584336C=CA1608610923DSPc.5745C= (p.Leu1915=)
c.7074C= (p.Leu2358=)
c.5277C= (p.Leu1759=)
6g.7584336C>GCA448716231DSPc.5745C>G (p.Leu1915=)
c.7074C>G (p.Leu2358=)
c.5277C>G (p.Leu1759=)
6g.7584336C>TCA049076DSPc.5745C>T (p.Leu1915=)
c.7074C>T (p.Leu2358=)
c.5277C>T (p.Leu1759=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7584336_7584337delinsCACA1608610919DSPc.5745_5746delinsCA (p.Leu1915=)
c.7074_7075delinsCA (p.Leu2358=)
c.5277_5278delinsCA (p.Leu1759=)
6g.7584337delCA891843182DSPc.5746del (p.Ile1916SerfsTer10)
c.7075del (p.Ile2359SerfsTer10)
c.5278del (p.Ile1760SerfsTer10)
 ClinVar dbSNP
6g.7584337A=CA1608610938DSPc.5746A= (p.Ile1916=)
c.7075A= (p.Ile2359=)
c.5278A= (p.Ile1760=)
6g.7584337A>CCA362692178DSPc.5746A>C (p.Ile1916Leu)
c.7075A>C (p.Ile2359Leu)
c.5278A>C (p.Ile1760Leu)
 gnomAD v4
6g.7584337A>GCA049089DSPc.5746A>G (p.Ile1916Val)
c.7075A>G (p.Ile2359Val)
c.5278A>G (p.Ile1760Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7584337A>TCA362692179DSPc.5746A>T (p.Ile1916Phe)
c.7075A>T (p.Ile2359Phe)
c.5278A>T (p.Ile1760Phe)
6g.7584338T>ACA362692180DSPc.5747T>A (p.Ile1916Asn)
c.7076T>A (p.Ile2359Asn)
c.5279T>A (p.Ile1760Asn)
 gnomAD v4
6g.7584338T>CCA362692181DSPc.5747T>C (p.Ile1916Thr)
c.7076T>C (p.Ile2359Thr)
c.5279T>C (p.Ile1760Thr)
 ClinVar
6g.7584338T>GCA362692182DSPc.5747T>G (p.Ile1916Ser)
c.7076T>G (p.Ile2359Ser)
c.5279T>G (p.Ile1760Ser)
 gnomAD v4
6g.7584339delCA2677219268DSPc.5748del (p.Ile1916MetfsTer10)
c.7077del (p.Ile2359MetfsTer10)
c.5280del (p.Ile1760MetfsTer10)
 gnomAD v4
6g.7584339C>ACA448716235DSPc.5748C>A (p.Ile1916=)
c.7077C>A (p.Ile2359=)
c.5280C>A (p.Ile1760=)
 ClinVar
6g.7584339C=CA1608610954DSPc.5748C= (p.Ile1916=)
c.7077C= (p.Ile2359=)
c.5280C= (p.Ile1760=)
6g.7584339C>GCA362692183DSPc.5748C>G (p.Ile1916Met)
c.7077C>G (p.Ile2359Met)
c.5280C>G (p.Ile1760Met)
6g.7584339C>TCA16605089DSPc.5748C>T (p.Ile1916=)
c.7077C>T (p.Ile2359=)
c.5280C>T (p.Ile1760=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7584340G>ACA362692184DSPc.5749G>A (p.Glu1917Lys)
c.7078G>A (p.Glu2360Lys)
c.5281G>A (p.Glu1761Lys)
 ClinVar gnomAD v4 COSMIC
6g.7584340G>CCA362692185DSPc.5749G>C (p.Glu1917Gln)
c.7078G>C (p.Glu2360Gln)
c.5281G>C (p.Glu1761Gln)
6g.7584340G>TCA362692186DSPc.5749G>T (p.Glu1917Ter)
c.7078G>T (p.Glu2360Ter)
c.5281G>T (p.Glu1761Ter)
6g.7584341A=CA1608610960DSPc.5750A= (p.Glu1917=)
c.7079A= (p.Glu2360=)
c.5282A= (p.Glu1761=)
6g.7584341A>CCA362692189DSPc.5750A>C (p.Glu1917Ala)
c.7079A>C (p.Glu2360Ala)
c.5282A>C (p.Glu1761Ala)
 gnomAD v4
6g.7584341A>GCA362692188DSPc.5750A>G (p.Glu1917Gly)
c.7079A>G (p.Glu2360Gly)
c.5282A>G (p.Glu1761Gly)
6g.7584341A>TCA362692187DSPc.5750A>T (p.Glu1917Val)
c.7079A>T (p.Glu2360Val)
c.5282A>T (p.Glu1761Val)
6g.7584344dupCA2499218565DSPc.5753dup (p.His1920ProfsTer17)
c.7082dup (p.His2363ProfsTer17)
c.5285dup (p.His1764ProfsTer17)
 ClinVar dbSNP
6g.7584341_7584342insCCA133975659DSPc.5750_5751insC (p.Glu1917AspfsTer20)
c.7079_7080insC (p.Glu2360AspfsTer20)
c.5282_5283insC (p.Glu1761AspfsTer20)
 dbSNP
6g.7584342A>CCA362692190DSPc.5751A>C (p.Glu1917Asp)
c.7080A>C (p.Glu2360Asp)
c.5283A>C (p.Glu1761Asp)
6g.7584342A>GCA448716243DSPc.5751A>G (p.Glu1917=)
c.7080A>G (p.Glu2360=)
c.5283A>G (p.Glu1761=)
 gnomAD v4
6g.7584342A>TCA362692191DSPc.5751A>T (p.Glu1917Asp)
c.7080A>T (p.Glu2360Asp)
c.5283A>T (p.Glu1761Asp)
6g.7584343A>CCA362692192DSPc.5752A>C (p.Lys1918Gln)
c.7081A>C (p.Lys2361Gln)
c.5284A>C (p.Lys1762Gln)
6g.7584343A>GCA362692193DSPc.5752A>G (p.Lys1918Glu)
c.7081A>G (p.Lys2361Glu)
c.5284A>G (p.Lys1762Glu)
6g.7584343A>TCA362692194DSPc.5752A>T (p.Lys1918Ter)
c.7081A>T (p.Lys2361Ter)
c.5284A>T (p.Lys1762Ter)
6g.7584344A>CCA362692195DSPc.5753A>C (p.Lys1918Thr)
c.7082A>C (p.Lys2361Thr)
c.5285A>C (p.Lys1762Thr)
6g.7584344A>GCA362692196DSPc.5753A>G (p.Lys1918Arg)
c.7082A>G (p.Lys2361Arg)
c.5285A>G (p.Lys1762Arg)
6g.7584344A>TCA362692197DSPc.5753A>T (p.Lys1918Met)
c.7082A>T (p.Lys2361Met)
c.5285A>T (p.Lys1762Met)
6g.7584345G>ACA448716252DSPc.5754G>A (p.Lys1918=)
c.7083G>A (p.Lys2361=)
c.5286G>A (p.Lys1762=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7584345G>CCA362692198DSPc.5754G>C (p.Lys1918Asn)
c.7083G>C (p.Lys2361Asn)
c.5286G>C (p.Lys1762Asn)
6g.7584345G=CA1608610966DSPc.5754G= (p.Lys1918=)
c.7083G= (p.Lys2361=)
c.5286G= (p.Lys1762=)
6g.7584345G>TCA362692199DSPc.5754G>T (p.Lys1918Asn)
c.7083G>T (p.Lys2361Asn)
c.5286G>T (p.Lys1762Asn)
6g.7584346G>ACA362692200DSPc.5755G>A (p.Gly1919Ser)
c.7084G>A (p.Gly2362Ser)
c.5287G>A (p.Gly1763Ser)
 ClinVar gnomAD v4
6g.7584346G>CCA362692201DSPc.5755G>C (p.Gly1919Arg)
c.7084G>C (p.Gly2362Arg)
c.5287G>C (p.Gly1763Arg)
6g.7584346G>TCA362692202DSPc.5755G>T (p.Gly1919Cys)
c.7084G>T (p.Gly2362Cys)
c.5287G>T (p.Gly1763Cys)
6g.7584347G>ACA362692205DSPc.5756G>A (p.Gly1919Asp)
c.7085G>A (p.Gly2362Asp)
c.5288G>A (p.Gly1763Asp)
 gnomAD v4
6g.7584347G>CCA362692204DSPc.5756G>C (p.Gly1919Ala)
c.7085G>C (p.Gly2362Ala)
c.5288G>C (p.Gly1763Ala)
6g.7584347G>TCA362692203DSPc.5756G>T (p.Gly1919Val)
c.7085G>T (p.Gly2362Val)
c.5288G>T (p.Gly1763Val)
6g.7584348C>ACA448716261DSPc.5757C>A (p.Gly1919=)
c.7086C>A (p.Gly2362=)
c.5289C>A (p.Gly1763=)
6g.7584348C>GCA448716263DSPc.5757C>G (p.Gly1919=)
c.7086C>G (p.Gly2362=)
c.5289C>G (p.Gly1763=)
6g.7584348C>TCA448716262DSPc.5757C>T (p.Gly1919=)
c.7086C>T (p.Gly2362=)
c.5289C>T (p.Gly1763=)
6g.7584349C>ACA362692206DSPc.5758C>A (p.His1920Asn)
c.7087C>A (p.His2363Asn)
c.5290C>A (p.His1764Asn)
 COSMIC
6g.7584349C>GCA362692207DSPc.5758C>G (p.His1920Asp)
c.7087C>G (p.His2363Asp)
c.5290C>G (p.His1764Asp)
6g.7584349C>TCA362692208DSPc.5758C>T (p.His1920Tyr)
c.7087C>T (p.His2363Tyr)
c.5290C>T (p.His1764Tyr)
6g.7584350A>CCA362692209DSPc.5759A>C (p.His1920Pro)
c.7088A>C (p.His2363Pro)
c.5291A>C (p.His1764Pro)
6g.7584350A>GCA362692210DSPc.5759A>G (p.His1920Arg)
c.7088A>G (p.His2363Arg)
c.5291A>G (p.His1764Arg)
6g.7584350A>TCA362692211DSPc.5759A>T (p.His1920Leu)
c.7088A>T (p.His2363Leu)
c.5291A>T (p.His1764Leu)
6g.7584351C>ACA362692213DSPc.5760C>A (p.His1920Gln)
c.7089C>A (p.His2363Gln)
c.5292C>A (p.His1764Gln)
6g.7584351C=CA1608610976DSPc.5760C= (p.His1920=)
c.7089C= (p.His2363=)
c.5292C= (p.His1764=)
6g.7584351C>GCA362692212DSPc.5760C>G (p.His1920Gln)
c.7089C>G (p.His2363Gln)
c.5292C>G (p.His1764Gln)
6g.7584351C>TCA133975665DSPc.5760C>T (p.His1920=)
c.7089C>T (p.His2363=)
c.5292C>T (p.His1764=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.7584352G>ACA362692214DSPc.5761G>A (p.Gly1921Ser)
c.7090G>A (p.Gly2364Ser)
c.5293G>A (p.Gly1765Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.7584352G>CCA362692215DSPc.5761G>C (p.Gly1921Arg)
c.7090G>C (p.Gly2364Arg)
c.5293G>C (p.Gly1765Arg)
6g.7584352G=CA1608610984DSPc.5761G= (p.Gly1921=)
c.7090G= (p.Gly2364=)
c.5293G= (p.Gly1765=)
6g.7584352G>TCA362692216DSPc.5761G>T (p.Gly1921Cys)
c.7090G>T (p.Gly2364Cys)
c.5293G>T (p.Gly1765Cys)
6g.7584353G>ACA362692217DSPc.5762G>A (p.Gly1921Asp)
c.7091G>A (p.Gly2364Asp)
c.5294G>A (p.Gly1765Asp)
6g.7584353G>CCA362692218DSPc.5762G>C (p.Gly1921Ala)
c.7091G>C (p.Gly2364Ala)
c.5294G>C (p.Gly1765Ala)
6g.7584353G=CA1608610987DSPc.5762G= (p.Gly1921=)
c.7091G= (p.Gly2364=)
c.5294G= (p.Gly1765=)
6g.7584353G>TCA362692219DSPc.5762G>T (p.Gly1921Val)
c.7091G>T (p.Gly2364Val)
c.5294G>T (p.Gly1765Val)
 dbSNP gnomAD v4
6g.7584354T>ACA448716264DSPc.5763T>A (p.Gly1921=)
c.7092T>A (p.Gly2364=)
c.5295T>A (p.Gly1765=)
6g.7584354T>CCA448716266DSPc.5763T>C (p.Gly1921=)
c.7092T>C (p.Gly2364=)
c.5295T>C (p.Gly1765=)
6g.7584354T>GCA448716269DSPc.5763T>G (p.Gly1921=)
c.7092T>G (p.Gly2364=)
c.5295T>G (p.Gly1765=)
6g.7584358_7584365delCA2695205961DSPc.5767_5774del (p.Leu1924SerfsTer10)
c.7096_7103del (p.Leu2367SerfsTer10)
c.5299_5306del (p.Leu1768SerfsTer10)
6g.7584355A=CA1608610998DSPc.5764A= (p.Ile1922=)
c.7093A= (p.Ile2365=)
c.5296A= (p.Ile1766=)
6g.7584355A>CCA362692221DSPc.5764A>C (p.Ile1922Leu)
c.7093A>C (p.Ile2365Leu)
c.5296A>C (p.Ile1766Leu)
6g.7584355A>GCA049101DSPc.5764A>G (p.Ile1922Val)
c.7093A>G (p.Ile2365Val)
c.5296A>G (p.Ile1766Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7584355A>TCA362692220DSPc.5764A>T (p.Ile1922Phe)
c.7093A>T (p.Ile2365Phe)
c.5296A>T (p.Ile1766Phe)
6g.7584356T>ACA362692222DSPc.5765T>A (p.Ile1922Asn)
c.7094T>A (p.Ile2365Asn)
c.5297T>A (p.Ile1766Asn)
6g.7584356T>CCA362692223DSPc.5765T>C (p.Ile1922Thr)
c.7094T>C (p.Ile2365Thr)
c.5297T>C (p.Ile1766Thr)
6g.7584356T>GCA362692224DSPc.5765T>G (p.Ile1922Ser)
c.7094T>G (p.Ile2365Ser)
c.5297T>G (p.Ile1766Ser)
6g.7584357T>ACA448716280DSPc.5766T>A (p.Ile1922=)
c.7095T>A (p.Ile2365=)
c.5298T>A (p.Ile1766=)
6g.7584357T>CCA448716282DSPc.5766T>C (p.Ile1922=)
c.7095T>C (p.Ile2365=)
c.5298T>C (p.Ile1766=)
6g.7584357T>GCA362692225DSPc.5766T>G (p.Ile1922Met)
c.7095T>G (p.Ile2365Met)
c.5298T>G (p.Ile1766Met)
6g.7584358C>ACA362692226DSPc.5767C>A (p.Arg1923Ser)
c.7096C>A (p.Arg2366Ser)
c.5299C>A (p.Arg1767Ser)
 gnomAD v4
6g.7584358C=CA1608610999DSPc.5767C= (p.Arg1923=)
c.7096C= (p.Arg2366=)
c.5299C= (p.Arg1767=)
6g.7584358C>GCA362692227DSPc.5767C>G (p.Arg1923Gly)
c.7096C>G (p.Arg2366Gly)
c.5299C>G (p.Arg1767Gly)
6g.7584358C>TCA007112DSPc.5767C>T (p.Arg1923Cys)
c.7096C>T (p.Arg2366Cys)
c.5299C>T (p.Arg1767Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7584359G>ACA007120DSPc.5768G>A (p.Arg1923His)
c.7097G>A (p.Arg2366His)
c.5300G>A (p.Arg1767His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7584359G>CCA362692228DSPc.5768G>C (p.Arg1923Pro)
c.7097G>C (p.Arg2366Pro)
c.5300G>C (p.Arg1767Pro)
6g.7584359G=CA1608611006DSPc.5768G= (p.Arg1923=)
c.7097G= (p.Arg2366=)
c.5300G= (p.Arg1767=)
6g.7584359G>TCA362692229DSPc.5768G>T (p.Arg1923Leu)
c.7097G>T (p.Arg2366Leu)
c.5300G>T (p.Arg1767Leu)
6g.7584360C>ACA448716298DSPc.5769C>A (p.Arg1923=)
c.7098C>A (p.Arg2366=)
c.5301C>A (p.Arg1767=)
6g.7584360C>GCA448716301DSPc.5769C>G (p.Arg1923=)
c.7098C>G (p.Arg2366=)
c.5301C>G (p.Arg1767=)
6g.7584360C>TCA448716302DSPc.5769C>T (p.Arg1923=)
c.7098C>T (p.Arg2366=)
c.5301C>T (p.Arg1767=)
 gnomAD v4 COSMIC
6g.7584361T>ACA362692230DSPc.5770T>A (p.Leu1924Ile)
c.7099T>A (p.Leu2367Ile)
c.5302T>A (p.Leu1768Ile)
6g.7584361T>CCA448716303DSPc.5770T>C (p.Leu1924=)
c.7099T>C (p.Leu2367=)
c.5302T>C (p.Leu1768=)
 gnomAD v4
6g.7584361T>GCA362692231DSPc.5770T>G (p.Leu1924Val)
c.7099T>G (p.Leu2367Val)
c.5302T>G (p.Leu1768Val)
6g.7584362T>ACA362692232DSPc.5771T>A (p.Leu1924Ter)
c.7100T>A (p.Leu2367Ter)
c.5303T>A (p.Leu1768Ter)
6g.7584362T>CCA362692234DSPc.5771T>C (p.Leu1924Ser)
c.7100T>C (p.Leu2367Ser)
c.5303T>C (p.Leu1768Ser)
6g.7584362T>GCA362692233DSPc.5771T>G (p.Leu1924Ter)
c.7100T>G (p.Leu2367Ter)
c.5303T>G (p.Leu1768Ter)
6g.7584362_7584368delinsTATTAGACA1608611014DSPc.5771_5777delinsTATTAGA (p.Leu1924=)
c.7100_7106delinsTATTAGA (p.Leu2367=)
c.5303_5309delinsTATTAGA (p.Leu1768=)
6g.7584363A>CCA362692235DSPc.5772A>C (p.Leu1924Phe)
c.7101A>C (p.Leu2367Phe)
c.5304A>C (p.Leu1768Phe)
6g.7584363A>GCA448716312DSPc.5772A>G (p.Leu1924=)
c.7101A>G (p.Leu2367=)
c.5304A>G (p.Leu1768=)
6g.7584363A>TCA362692236DSPc.5772A>T (p.Leu1924Phe)
c.7101A>T (p.Leu2367Phe)
c.5304A>T (p.Leu1768Phe)
6g.7584364_7584369delCA1608611018DSPc.5773_5778del (p.Leu1925_Glu1926del)
c.7102_7107del (p.Leu2368_Glu2369del)
c.5305_5310del (p.Leu1769_Glu1770del)
 dbSNP
6g.7584364T>ACA362692237DSPc.5773T>A (p.Leu1925Ile)
c.7102T>A (p.Leu2368Ile)
c.5305T>A (p.Leu1769Ile)
6g.7584364T>CCA448716316DSPc.5773T>C (p.Leu1925=)
c.7102T>C (p.Leu2368=)
c.5305T>C (p.Leu1769=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7584364T>GCA362692238DSPc.5773T>G (p.Leu1925Val)
c.7102T>G (p.Leu2368Val)
c.5305T>G (p.Leu1769Val)
6g.7584364T=CA1608611022DSPc.5773T= (p.Leu1925=)
c.7102T= (p.Leu2368=)
c.5305T= (p.Leu1769=)
6g.7584365T>ACA362692239DSPc.5774T>A (p.Leu1925Ter)
c.7103T>A (p.Leu2368Ter)
c.5306T>A (p.Leu1769Ter)
6g.7584365T>CCA362692240DSPc.5774T>C (p.Leu1925Ser)
c.7103T>C (p.Leu2368Ser)
c.5306T>C (p.Leu1769Ser)
 COSMIC
6g.7584365T>GCA362692241DSPc.5774T>G (p.Leu1925Ter)
c.7103T>G (p.Leu2368Ter)
c.5306T>G (p.Leu1769Ter)
6g.7584366A>CCA362692242DSPc.5775A>C (p.Leu1925Phe)
c.7104A>C (p.Leu2368Phe)
c.5307A>C (p.Leu1769Phe)
6g.7584366A>GCA448716323DSPc.5775A>G (p.Leu1925=)
c.7104A>G (p.Leu2368=)
c.5307A>G (p.Leu1769=)
6g.7584366A>TCA362692243DSPc.5775A>T (p.Leu1925Phe)
c.7104A>T (p.Leu2368Phe)
c.5307A>T (p.Leu1769Phe)
6g.7584367G>ACA362692244DSPc.5776G>A (p.Glu1926Lys)
c.7105G>A (p.Glu2369Lys)
c.5308G>A (p.Glu1770Lys)
 ClinVar COSMIC
6g.7584367G>CCA362692245DSPc.5776G>C (p.Glu1926Gln)
c.7105G>C (p.Glu2369Gln)
c.5308G>C (p.Glu1770Gln)
6g.7584367G>TCA362692246DSPc.5776G>T (p.Glu1926Ter)
c.7105G>T (p.Glu2369Ter)
c.5308G>T (p.Glu1770Ter)
6g.7584368A>CCA362692247DSPc.5777A>C (p.Glu1926Ala)
c.7106A>C (p.Glu2369Ala)
c.5309A>C (p.Glu1770Ala)
6g.7584368A>GCA362692248DSPc.5777A>G (p.Glu1926Gly)
c.7106A>G (p.Glu2369Gly)
c.5309A>G (p.Glu1770Gly)
 gnomAD v4
6g.7584368A>TCA362692249DSPc.5777A>T (p.Glu1926Val)
c.7106A>T (p.Glu2369Val)
c.5309A>T (p.Glu1770Val)
6g.7584369A>CCA362692250DSPc.5778A>C (p.Glu1926Asp)
c.7107A>C (p.Glu2369Asp)
c.5310A>C (p.Glu1770Asp)
6g.7584369A>GCA448716337DSPc.5778A>G (p.Glu1926=)
c.7107A>G (p.Glu2369=)
c.5310A>G (p.Glu1770=)
6g.7584369A>TCA362692251DSPc.5778A>T (p.Glu1926Asp)
c.7107A>T (p.Glu2369Asp)
c.5310A>T (p.Glu1770Asp)
6g.7584370G>ACA362692252DSPc.5779G>A (p.Ala1927Thr)
c.7108G>A (p.Ala2370Thr)
c.5311G>A (p.Ala1771Thr)
6g.7584370G>CCA362692253DSPc.5779G>C (p.Ala1927Pro)
c.7108G>C (p.Ala2370Pro)
c.5311G>C (p.Ala1771Pro)
6g.7584370G>TCA362692254DSPc.5779G>T (p.Ala1927Ser)
c.7108G>T (p.Ala2370Ser)
c.5311G>T (p.Ala1771Ser)
6g.7584371C>ACA362692255DSPc.5780C>A (p.Ala1927Glu)
c.7109C>A (p.Ala2370Glu)
c.5312C>A (p.Ala1771Glu)
6g.7584371C>GCA362692256DSPc.5780C>G (p.Ala1927Gly)
c.7109C>G (p.Ala2370Gly)
c.5312C>G (p.Ala1771Gly)
6g.7584371C>TCA362692257DSPc.5780C>T (p.Ala1927Val)
c.7109C>T (p.Ala2370Val)
c.5312C>T (p.Ala1771Val)
6g.7584372A>CCA448716350DSPc.5781A>C (p.Ala1927=)
c.7110A>C (p.Ala2370=)
c.5313A>C (p.Ala1771=)
6g.7584372A>GCA448716351DSPc.5781A>G (p.Ala1927=)
c.7110A>G (p.Ala2370=)
c.5313A>G (p.Ala1771=)
6g.7584372A>TCA448716354DSPc.5781A>T (p.Ala1927=)
c.7110A>T (p.Ala2370=)
c.5313A>T (p.Ala1771=)
6g.7584373C>ACA362692258DSPc.5782C>A (p.Gln1928Lys)
c.7111C>A (p.Gln2371Lys)
c.5314C>A (p.Gln1772Lys)
6g.7584373C>GCA362692259DSPc.5782C>G (p.Gln1928Glu)
c.7111C>G (p.Gln2371Glu)
c.5314C>G (p.Gln1772Glu)
6g.7584373C>TCA362692260DSPc.5782C>T (p.Gln1928Ter)
c.7111C>T (p.Gln2371Ter)
c.5314C>T (p.Gln1772Ter)
6g.7584375_7584381delCA923726089DSPc.5784_5790del (p.Ile1929ProfsTer17)
c.7113_7119del (p.Ile2372ProfsTer17)
c.5316_5322del (p.Ile1773ProfsTer17)
 gnomAD v4
6g.7584374A>CCA362692261DSPc.5783A>C (p.Gln1928Pro)
c.7112A>C (p.Gln2371Pro)
c.5315A>C (p.Gln1772Pro)
6g.7584374A>GCA362692262DSPc.5783A>G (p.Gln1928Arg)
c.7112A>G (p.Gln2371Arg)
c.5315A>G (p.Gln1772Arg)
6g.7584374A>TCA362692263DSPc.5783A>T (p.Gln1928Leu)
c.7112A>T (p.Gln2371Leu)
c.5315A>T (p.Gln1772Leu)
6g.7584375G>ACA448716370DSPc.5784G>A (p.Gln1928=)
c.7113G>A (p.Gln2371=)
c.5316G>A (p.Gln1772=)
6g.7584375G>CCA362692265DSPc.5784G>C (p.Gln1928His)
c.7113G>C (p.Gln2371His)
c.5316G>C (p.Gln1772His)
6g.7584375G>TCA362692264DSPc.5784G>T (p.Gln1928His)
c.7113G>T (p.Gln2371His)
c.5316G>T (p.Gln1772His)
6g.7584376A>CCA362692266DSPc.5785A>C (p.Ile1929Leu)
c.7114A>C (p.Ile2372Leu)
c.5317A>C (p.Ile1773Leu)
6g.7584376A>GCA362692268DSPc.5785A>G (p.Ile1929Val)
c.7114A>G (p.Ile2372Val)
c.5317A>G (p.Ile1773Val)
 gnomAD v4
6g.7584376A>TCA362692267DSPc.5785A>T (p.Ile1929Phe)
c.7114A>T (p.Ile2372Phe)
c.5317A>T (p.Ile1773Phe)
6g.7584377T>ACA362692269DSPc.5786T>A (p.Ile1929Asn)
c.7115T>A (p.Ile2372Asn)
c.5318T>A (p.Ile1773Asn)
6g.7584377T>CCA362692270DSPc.5786T>C (p.Ile1929Thr)
c.7115T>C (p.Ile2372Thr)
c.5318T>C (p.Ile1773Thr)
 gnomAD v4
6g.7584377T>GCA362692271DSPc.5786T>G (p.Ile1929Ser)
c.7115T>G (p.Ile2372Ser)
c.5318T>G (p.Ile1773Ser)
6g.7584378C>ACA448716373DSPc.5787C>A (p.Ile1929=)
c.7116C>A (p.Ile2372=)
c.5319C>A (p.Ile1773=)
6g.7584378C=CA1608611026DSPc.5787C= (p.Ile1929=)
c.7116C= (p.Ile2372=)
c.5319C= (p.Ile1773=)
6g.7584378C>GCA362692272DSPc.5787C>G (p.Ile1929Met)
c.7116C>G (p.Ile2372Met)
c.5319C>G (p.Ile1773Met)
 gnomAD v4
6g.7584378C>TCA049118DSPc.5787C>T (p.Ile1929=)
c.7116C>T (p.Ile2372=)
c.5319C>T (p.Ile1773=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.7584379G>ACA049132DSPc.5788G>A (p.Ala1930Thr)
c.7117G>A (p.Ala2373Thr)
c.5320G>A (p.Ala1774Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7584379G>CCA362692273DSPc.5788G>C (p.Ala1930Pro)
c.7117G>C (p.Ala2373Pro)
c.5320G>C (p.Ala1774Pro)
6g.7584379G=CA1608611034DSPc.5788G= (p.Ala1930=)
c.7117G= (p.Ala2373=)
c.5320G= (p.Ala1774=)
6g.7584379G>TCA362692274DSPc.5788G>T (p.Ala1930Ser)
c.7117G>T (p.Ala2373Ser)
c.5320G>T (p.Ala1774Ser)
6g.7584380C>ACA362692275DSPc.5789C>A (p.Ala1930Glu)
c.7118C>A (p.Ala2373Glu)
c.5321C>A (p.Ala1774Glu)
6g.7584380C>GCA362692276DSPc.5789C>G (p.Ala1930Gly)
c.7118C>G (p.Ala2373Gly)
c.5321C>G (p.Ala1774Gly)
6g.7584380C>TCA362692277DSPc.5789C>T (p.Ala1930Val)
c.7118C>T (p.Ala2373Val)
c.5321C>T (p.Ala1774Val)
6g.7584381A>CCA448716380DSPc.5790A>C (p.Ala1930=)
c.7119A>C (p.Ala2373=)
c.5322A>C (p.Ala1774=)
 ClinVar
6g.7584381A>GCA448716382DSPc.5790A>G (p.Ala1930=)
c.7119A>G (p.Ala2373=)
c.5322A>G (p.Ala1774=)
6g.7584381A>TCA448716381DSPc.5790A>T (p.Ala1930=)
c.7119A>T (p.Ala2373=)
c.5322A>T (p.Ala1774=)
6g.7584382A=CA1608611040DSPc.5791A= (p.Thr1931=)
c.7120A= (p.Thr2374=)
c.5323A= (p.Thr1775=)
6g.7584382A>CCA362692280DSPc.5791A>C (p.Thr1931Pro)
c.7120A>C (p.Thr2374Pro)
c.5323A>C (p.Thr1775Pro)
6g.7584382A>GCA362692279DSPc.5791A>G (p.Thr1931Ala)
c.7120A>G (p.Thr2374Ala)
c.5323A>G (p.Thr1775Ala)
 ClinVar dbSNP
6g.7584382A>TCA362692278DSPc.5791A>T (p.Thr1931Ser)
c.7120A>T (p.Thr2374Ser)
c.5323A>T (p.Thr1775Ser)
 dbSNP
6g.7584383C>ACA362692281DSPc.5792C>A (p.Thr1931Asn)
c.7121C>A (p.Thr2374Asn)
c.5324C>A (p.Thr1775Asn)
6g.7584383C>GCA362692282DSPc.5792C>G (p.Thr1931Ser)
c.7121C>G (p.Thr2374Ser)
c.5324C>G (p.Thr1775Ser)
6g.7584383C>TCA362692283DSPc.5792C>T (p.Thr1931Ile)
c.7121C>T (p.Thr2374Ile)
c.5324C>T (p.Thr1775Ile)
6g.7584383_7584384delinsTTCA2580075352DSPc.5792_5793delinsTT (p.Thr1931Ile)
c.7121_7122delinsTT (p.Thr2374Ile)
c.5324_5325delinsTT (p.Thr1775Ile)
 ClinVar
6g.7584384delCA645552061DSPc.5793del (p.Ile1934SerfsTer14)
c.7122del (p.Ile2377SerfsTer14)
c.5325del (p.Ile1778SerfsTer14)
 COSMIC
6g.7584384C>ACA448716386DSPc.5793C>A (p.Thr1931=)
c.7122C>A (p.Thr2374=)
c.5325C>A (p.Thr1775=)
6g.7584384C=CA1608611047DSPc.5793C= (p.Thr1931=)
c.7122C= (p.Thr2374=)
c.5325C= (p.Thr1775=)
6g.7584384C>GCA448716388DSPc.5793C>G (p.Thr1931=)
c.7122C>G (p.Thr2374=)
c.5325C>G (p.Thr1775=)
 gnomAD v4
6g.7584384C>TCA007128DSPc.5793C>T (p.Thr1931=)
c.7122C>T (p.Thr2374=)
c.5325C>T (p.Thr1775=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7584385G>ACA133975688DSPc.5794G>A (p.Gly1932Arg)
c.7123G>A (p.Gly2375Arg)
c.5326G>A (p.Gly1776Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.7584385G>CCA004694DSPc.5794G>C (p.Gly1932Arg)
c.7123G>C (p.Gly2375Arg)
c.5326G>C (p.Gly1776Arg)
 ClinVar dbSNP gnomAD v4
6g.7584385G=CA1608611061DSPc.5794G= (p.Gly1932=)
c.7123G= (p.Gly2375=)
c.5326G= (p.Gly1776=)
6g.7584385G>TCA362692284DSPc.5794G>T (p.Gly1932Trp)
c.7123G>T (p.Gly2375Trp)
c.5326G>T (p.Gly1776Trp)
 COSMIC
6g.7584390dupCA2769903888DSPc.5799dup (p.Ile1934AspfsTer3)
c.7128dup (p.Ile2377AspfsTer3)
c.5331dup (p.Ile1778AspfsTer3)
6g.7584390delCA645552062DSPc.5799del (p.Ile1934SerfsTer14)
c.7128del (p.Ile2377SerfsTer14)
c.5331del (p.Ile1778SerfsTer14)
 COSMIC
6g.7584386G>ACA362692285DSPc.5795G>A (p.Gly1932Glu)
c.7124G>A (p.Gly2375Glu)
c.5327G>A (p.Gly1776Glu)
 dbSNP gnomAD v2 gnomAD v4
6g.7584386G>CCA362692286DSPc.5795G>C (p.Gly1932Ala)
c.7124G>C (p.Gly2375Ala)
c.5327G>C (p.Gly1776Ala)
6g.7584386G=CA1608611072DSPc.5795G= (p.Gly1932=)
c.7124G= (p.Gly2375=)
c.5327G= (p.Gly1776=)
6g.7584386G>TCA362692287DSPc.5795G>T (p.Gly1932Val)
c.7124G>T (p.Gly2375Val)
c.5327G>T (p.Gly1776Val)
6g.7584387G>ACA007142DSPc.5796G>A (p.Gly1932=)
c.7125G>A (p.Gly2375=)
c.5328G>A (p.Gly1776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7584387G>CCA049161DSPc.5796G>C (p.Gly1932=)
c.7125G>C (p.Gly2375=)
c.5328G>C (p.Gly1776=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.7584387G=CA1608611082DSPc.5796G= (p.Gly1932=)
c.7125G= (p.Gly2375=)
c.5328G= (p.Gly1776=)
6g.7584387G>TCA448716403DSPc.5796G>T (p.Gly1932=)
c.7125G>T (p.Gly2375=)
c.5328G>T (p.Gly1776=)
6g.7584388G>ACA362692288DSPc.5797G>A (p.Gly1933Arg)
c.7126G>A (p.Gly2376Arg)
c.5329G>A (p.Gly1777Arg)
6g.7584388G>CCA362692290DSPc.5797G>C (p.Gly1933Arg)
c.7126G>C (p.Gly2376Arg)
c.5329G>C (p.Gly1777Arg)
6g.7584388G>TCA362692289DSPc.5797G>T (p.Gly1933Trp)
c.7126G>T (p.Gly2376Trp)
c.5329G>T (p.Gly1777Trp)
6g.7584389G>ACA362692291DSPc.5798G>A (p.Gly1933Glu)
c.7127G>A (p.Gly2376Glu)
c.5330G>A (p.Gly1777Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7584389G>CCA362692293DSPc.5798G>C (p.Gly1933Ala)
c.7127G>C (p.Gly2376Ala)
c.5330G>C (p.Gly1777Ala)
6g.7584389G=CA1608611091DSPc.5798G= (p.Gly1933=)
c.7127G= (p.Gly2376=)
c.5330G= (p.Gly1777=)
6g.7584389G>TCA362692292DSPc.5798G>T (p.Gly1933Val)
c.7127G>T (p.Gly2376Val)
c.5330G>T (p.Gly1777Val)
6g.7584390G>ACA049171DSPc.5799G>A (p.Gly1933=)
c.7128G>A (p.Gly2376=)
c.5331G>A (p.Gly1777=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.7584390G>CCA049185DSPc.5799G>C (p.Gly1933=)
c.7128G>C (p.Gly2376=)
c.5331G>C (p.Gly1777=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.7584390G=CA1608611100DSPc.5799G= (p.Gly1933=)
c.7128G= (p.Gly2376=)
c.5331G= (p.Gly1777=)
6g.7584390G>TCA049202DSPc.5799G>T (p.Gly1933=)
c.7128G>T (p.Gly2376=)
c.5331G>T (p.Gly1777=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7584391A>CCA362692294DSPc.5800A>C (p.Ile1934Leu)
c.7129A>C (p.Ile2377Leu)
c.5332A>C (p.Ile1778Leu)
6g.7584391A>GCA362692295DSPc.5800A>G (p.Ile1934Val)
c.7129A>G (p.Ile2377Val)
c.5332A>G (p.Ile1778Val)
6g.7584391A>TCA362692296DSPc.5800A>T (p.Ile1934Phe)
c.7129A>T (p.Ile2377Phe)
c.5332A>T (p.Ile1778Phe)
6g.7584391dupCA2695205962DSPc.5800dup (p.Ile1934AsnfsTer3)
c.7129dup (p.Ile2377AsnfsTer3)
c.5332dup (p.Ile1778AsnfsTer3)
6g.7584391_7584414delCA2573140820DSPc.5800_5823del (p.Ile1934_His1941del)
c.7129_7152del (p.Ile2377_His2384del)
c.5332_5355del (p.Ile1778_His1785del)
 ClinVar dbSNP
6g.7584392T>ACA362692297DSPc.5801T>A (p.Ile1934Asn)
c.7130T>A (p.Ile2377Asn)
c.5333T>A (p.Ile1778Asn)
6g.7584392T>CCA362692298DSPc.5801T>C (p.Ile1934Thr)
c.7130T>C (p.Ile2377Thr)
c.5333T>C (p.Ile1778Thr)
6g.7584392T>GCA362692299DSPc.5801T>G (p.Ile1934Ser)
c.7130T>G (p.Ile2377Ser)
c.5333T>G (p.Ile1778Ser)
6g.7584393C>ACA448716419DSPc.5802C>A (p.Ile1934=)
c.7131C>A (p.Ile2377=)
c.5334C>A (p.Ile1778=)
 ClinVar dbSNP
6g.7584393C=CA1608611105DSPc.5802C= (p.Ile1934=)
c.7131C= (p.Ile2377=)
c.5334C= (p.Ile1778=)
6g.7584393C>GCA362692300DSPc.5802C>G (p.Ile1934Met)
c.7131C>G (p.Ile2377Met)
c.5334C>G (p.Ile1778Met)
6g.7584393C>TCA448716423DSPc.5802C>T (p.Ile1934=)
c.7131C>T (p.Ile2377=)
c.5334C>T (p.Ile1778=)
6g.7584394A>CCA362692301DSPc.5803A>C (p.Ile1935Leu)
c.7132A>C (p.Ile2378Leu)
c.5335A>C (p.Ile1779Leu)
6g.7584394A>GCA362692302DSPc.5803A>G (p.Ile1935Val)
c.7132A>G (p.Ile2378Val)
c.5335A>G (p.Ile1779Val)
6g.7584394A>TCA362692303DSPc.5803A>T (p.Ile1935Phe)
c.7132A>T (p.Ile2378Phe)
c.5335A>T (p.Ile1779Phe)
6g.7584395T>ACA362692304DSPc.5804T>A (p.Ile1935Asn)
c.7133T>A (p.Ile2378Asn)
c.5336T>A (p.Ile1779Asn)
6g.7584395T>CCA362692305DSPc.5804T>C (p.Ile1935Thr)
c.7133T>C (p.Ile2378Thr)
c.5336T>C (p.Ile1779Thr)
 ClinVar gnomAD v4
6g.7584395T>GCA362692306DSPc.5804T>G (p.Ile1935Ser)
c.7133T>G (p.Ile2378Ser)
c.5336T>G (p.Ile1779Ser)
6g.7584396T>ACA448716430DSPc.5805T>A (p.Ile1935=)
c.7134T>A (p.Ile2378=)
c.5337T>A (p.Ile1779=)
6g.7584396T>CCA448716432DSPc.5805T>C (p.Ile1935=)
c.7134T>C (p.Ile2378=)
c.5337T>C (p.Ile1779=)
6g.7584396T>GCA362692307DSPc.5805T>G (p.Ile1935Met)
c.7134T>G (p.Ile2378Met)
c.5337T>G (p.Ile1779Met)
6g.7584397G>ACA362692308DSPc.5806G>A (p.Asp1936Asn)
c.7135G>A (p.Asp2379Asn)
c.5338G>A (p.Asp1780Asn)
6g.7584397G>CCA362692309DSPc.5806G>C (p.Asp1936His)
c.7135G>C (p.Asp2379His)
c.5338G>C (p.Asp1780His)
 gnomAD v4
6g.7584397G>TCA362692310DSPc.5806G>T (p.Asp1936Tyr)
c.7135G>T (p.Asp2379Tyr)
c.5338G>T (p.Asp1780Tyr)
 gnomAD v4
6g.7584398A>CCA362692311DSPc.5807A>C (p.Asp1936Ala)
c.7136A>C (p.Asp2379Ala)
c.5339A>C (p.Asp1780Ala)
6g.7584398A>GCA362692312DSPc.5807A>G (p.Asp1936Gly)
c.7136A>G (p.Asp2379Gly)
c.5339A>G (p.Asp1780Gly)
6g.7584398A>TCA362692313DSPc.5807A>T (p.Asp1936Val)
c.7136A>T (p.Asp2379Val)
c.5339A>T (p.Asp1780Val)
6g.7584399C>ACA362692314DSPc.5808C>A (p.Asp1936Glu)
c.7137C>A (p.Asp2379Glu)
c.5340C>A (p.Asp1780Glu)
6g.7584399C>GCA362692315DSPc.5808C>G (p.Asp1936Glu)
c.7137C>G (p.Asp2379Glu)
c.5340C>G (p.Asp1780Glu)
6g.7584399C>TCA448716442DSPc.5808C>T (p.Asp1936=)
c.7137C>T (p.Asp2379=)
c.5340C>T (p.Asp1780=)
 gnomAD v4
6g.7584400C>ACA362692316DSPc.5809C>A (p.Pro1937Thr)
c.7138C>A (p.Pro2380Thr)
c.5341C>A (p.Pro1781Thr)
6g.7584400C>GCA362692317DSPc.5809C>G (p.Pro1937Ala)
c.7138C>G (p.Pro2380Ala)
c.5341C>G (p.Pro1781Ala)
6g.7584400C>TCA362692318DSPc.5809C>T (p.Pro1937Ser)
c.7138C>T (p.Pro2380Ser)
c.5341C>T (p.Pro1781Ser)
6g.7584401C>ACA362692321DSPc.5810C>A (p.Pro1937Gln)
c.7139C>A (p.Pro2380Gln)
c.5342C>A (p.Pro1781Gln)
6g.7584401C>GCA362692320DSPc.5810C>G (p.Pro1937Arg)
c.7139C>G (p.Pro2380Arg)
c.5342C>G (p.Pro1781Arg)
6g.7584401C>TCA362692319DSPc.5810C>T (p.Pro1937Leu)
c.7139C>T (p.Pro2380Leu)
c.5342C>T (p.Pro1781Leu)
6g.7584402A>CCA448716451DSPc.5811A>C (p.Pro1937=)
c.7140A>C (p.Pro2380=)
c.5343A>C (p.Pro1781=)
6g.7584402A>GCA448716453DSPc.5811A>G (p.Pro1937=)
c.7140A>G (p.Pro2380=)
c.5343A>G (p.Pro1781=)
6g.7584402A>TCA448716454DSPc.5811A>T (p.Pro1937=)
c.7140A>T (p.Pro2380=)
c.5343A>T (p.Pro1781=)
6g.7584403A>CCA362692322DSPc.5812A>C (p.Lys1938Gln)
c.7141A>C (p.Lys2381Gln)
c.5344A>C (p.Lys1782Gln)
6g.7584403A>GCA362692323DSPc.5812A>G (p.Lys1938Glu)
c.7141A>G (p.Lys2381Glu)
c.5344A>G (p.Lys1782Glu)
6g.7584403A>TCA362692324DSPc.5812A>T (p.Lys1938Ter)
c.7141A>T (p.Lys2381Ter)
c.5344A>T (p.Lys1782Ter)
6g.7584404A>CCA362692325DSPc.5813A>C (p.Lys1938Thr)
c.7142A>C (p.Lys2381Thr)
c.5345A>C (p.Lys1782Thr)
6g.7584404A>GCA362692326DSPc.5813A>G (p.Lys1938Arg)
c.7142A>G (p.Lys2381Arg)
c.5345A>G (p.Lys1782Arg)
 gnomAD v4
6g.7584404A>TCA362692327DSPc.5813A>T (p.Lys1938Met)
c.7142A>T (p.Lys2381Met)
c.5345A>T (p.Lys1782Met)
6g.7584405G>ACA448716474DSPc.5814G>A (p.Lys1938=)
c.7143G>A (p.Lys2381=)
c.5346G>A (p.Lys1782=)
 dbSNP gnomAD v2 gnomAD v4
6g.7584405G>CCA362692328DSPc.5814G>C (p.Lys1938Asn)
c.7143G>C (p.Lys2381Asn)
c.5346G>C (p.Lys1782Asn)
 dbSNP
6g.7584405G=CA1608611109DSPc.5814G= (p.Lys1938=)
c.7143G= (p.Lys2381=)
c.5346G= (p.Lys1782=)
6g.7584405G>TCA362692329DSPc.5814G>T (p.Lys1938Asn)
c.7143G>T (p.Lys2381Asn)
c.5346G>T (p.Lys1782Asn)
6g.7584406G>ACA362692330DSPc.5815G>A (p.Glu1939Lys)
c.7144G>A (p.Glu2382Lys)
c.5347G>A (p.Glu1783Lys)
6g.7584406G>CCA362692331DSPc.5815G>C (p.Glu1939Gln)
c.7144G>C (p.Glu2382Gln)
c.5347G>C (p.Glu1783Gln)
6g.7584406G>TCA362692332DSPc.5815G>T (p.Glu1939Ter)
c.7144G>T (p.Glu2382Ter)
c.5347G>T (p.Glu1783Ter)
6g.7584407A>CCA362692333DSPc.5816A>C (p.Glu1939Ala)
c.7145A>C (p.Glu2382Ala)
c.5348A>C (p.Glu1783Ala)
6g.7584407A>GCA362692334DSPc.5816A>G (p.Glu1939Gly)
c.7145A>G (p.Glu2382Gly)
c.5348A>G (p.Glu1783Gly)
6g.7584407A>TCA362692335DSPc.5816A>T (p.Glu1939Val)
c.7145A>T (p.Glu2382Val)
c.5348A>T (p.Glu1783Val)
6g.7584407_7584423delCA2677219518DSPc.5816_5832del (p.Glu1939GlyfsTer2)
c.7145_7161del (p.Glu2382GlyfsTer2)
c.5348_5364del (p.Glu1783GlyfsTer2)
 gnomAD v4
6g.7584408G>ACA448716484DSPc.5817G>A (p.Glu1939=)
c.7146G>A (p.Glu2382=)
c.5349G>A (p.Glu1783=)
6g.7584408G>CCA362692336DSPc.5817G>C (p.Glu1939Asp)
c.7146G>C (p.Glu2382Asp)
c.5349G>C (p.Glu1783Asp)
6g.7584408G>TCA362692337DSPc.5817G>T (p.Glu1939Asp)
c.7146G>T (p.Glu2382Asp)
c.5349G>T (p.Glu1783Asp)
6g.7584409A>CCA362692338DSPc.5818A>C (p.Ser1940Arg)
c.7147A>C (p.Ser2383Arg)
c.5350A>C (p.Ser1784Arg)
6g.7584409A>GCA362692339DSPc.5818A>G (p.Ser1940Gly)
c.7147A>G (p.Ser2383Gly)
c.5350A>G (p.Ser1784Gly)
 gnomAD v4
6g.7584409A>TCA362692340DSPc.5818A>T (p.Ser1940Cys)
c.7147A>T (p.Ser2383Cys)
c.5350A>T (p.Ser1784Cys)
6g.7584410G>ACA362692341DSPc.5819G>A (p.Ser1940Asn)
c.7148G>A (p.Ser2383Asn)
c.5351G>A (p.Ser1784Asn)
 ClinVar
6g.7584410G>CCA362692342DSPc.5819G>C (p.Ser1940Thr)
c.7148G>C (p.Ser2383Thr)
c.5351G>C (p.Ser1784Thr)
6g.7584410G>TCA362692343DSPc.5819G>T (p.Ser1940Ile)
c.7148G>T (p.Ser2383Ile)
c.5351G>T (p.Ser1784Ile)

Number of alleles fetched