Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154899869_154902170dupCA1139771163F8c.6001_6273+2dup
c.5896_6168+2dup
Xg.154902045_154902057delCA2695237861F8c.6115_6115+12del
c.6010_6010+12del
Xg.154902055G>ACA519355724F8c.6111C>T (p.Ser2037=)
c.6006C>T (p.Ser2002=)
dbSNP gnomAD v3 gnomAD v4
Xg.154902055G>CCA414904503F8c.6111C>G (p.Ser2037Arg)
c.6006C>G (p.Ser2002Arg)
Xg.154902055G=CA2466827621F8c.6111C= (p.Ser2037=)
c.6006C= (p.Ser2002=)
Xg.154902055G>TCA414904504F8c.6111C>A (p.Ser2037Arg)
c.6006C>A (p.Ser2002Arg)
gnomAD v4
Xg.154902056C>ACA414904511F8c.6110G>T (p.Ser2037Ile)
c.6005G>T (p.Ser2002Ile)
Xg.154902056C>GCA414904507F8c.6110G>C (p.Ser2037Thr)
c.6005G>C (p.Ser2002Thr)
Xg.154902056C>TCA414904505F8c.6110G>A (p.Ser2037Asn)
c.6005G>A (p.Ser2002Asn)
gnomAD v4
Xg.154902057T>ACA414904512F8c.6109A>T (p.Ser2037Cys)
c.6004A>T (p.Ser2002Cys)
Xg.154902057T>CCA414904513F8c.6109A>G (p.Ser2037Gly)
c.6004A>G (p.Ser2002Gly)
dbSNP gnomAD v2 gnomAD v4
Xg.154902057T>GCA414904514F8c.6109A>C (p.Ser2037Arg)
c.6004A>C (p.Ser2002Arg)
Xg.154902057T=CA2466827622F8c.6109A= (p.Ser2037=)
c.6004A= (p.Ser2002=)
Xg.154902058G>ACA519355736F8c.6108C>T (p.Tyr2036=)
c.6003C>T (p.Tyr2001=)
gnomAD v4
Xg.154902058G>CCA414904516F8c.6108C>G (p.Tyr2036Ter)
c.6003C>G (p.Tyr2001Ter)
Xg.154902058G>TCA414904519F8c.6108C>A (p.Tyr2036Ter)
c.6003C>A (p.Tyr2001Ter)
gnomAD v4 COSMIC COSMIC
Xg.154902059T>ACA414904523F8c.6107A>T (p.Tyr2036Phe)
c.6002A>T (p.Tyr2001Phe)
Xg.154902059T>CCA414904526F8c.6107A>G (p.Tyr2036Cys)
c.6002A>G (p.Tyr2001Cys)
Xg.154902059T>GCA414904535F8c.6107A>C (p.Tyr2036Ser)
c.6002A>C (p.Tyr2001Ser)
Xg.154902060A>CCA414904540F8c.6106T>G (p.Tyr2036Asp)
c.6001T>G (p.Tyr2001Asp)
Xg.154902060A>GCA414904543F8c.6106T>C (p.Tyr2036His)
c.6001T>C (p.Tyr2001His)
Xg.154902060A>TCA414904546F8c.6106T>A (p.Tyr2036Asn)
c.6001T>A (p.Tyr2001Asn)
gnomAD v4
Xg.154902061C>ACA519355746F8c.6105G>T (p.Val2035=)
c.6000G>T (p.Val2000=)
Xg.154902061C>GCA519355748F8c.6105G>C (p.Val2035=)
c.6000G>C (p.Val2000=)
Xg.154902061C>TCA519355750F8c.6105G>A (p.Val2035=)
c.6000G>A (p.Val2000=)
gnomAD v4
Xg.154902062A=CA2466827623F8c.6104T= (p.Val2035=)
c.5999T= (p.Val2000=)
Xg.154902062A>CCA414904562F8c.6104T>G (p.Val2035Gly)
c.5999T>G (p.Val2000Gly)
dbSNP
Xg.154902062A>GCA414904555F8c.6104T>C (p.Val2035Ala)
c.5999T>C (p.Val2000Ala)
ClinVar dbSNP gnomAD v4
Xg.154902062A>TCA414904559F8c.6104T>A (p.Val2035Glu)
c.5999T>A (p.Val2000Glu)
Xg.154902063C>ACA414904570F8c.6103G>T (p.Val2035Leu)
c.5998G>T (p.Val2000Leu)
Xg.154902063C=CA2466827624F8c.6103G= (p.Val2035=)
c.5998G= (p.Val2000=)
Xg.154902063C>GCA414904573F8c.6103G>C (p.Val2035Leu)
c.5998G>C (p.Val2000Leu)
Xg.154902063C>TCA16609159F8c.6103G>A (p.Val2035Met)
c.5998G>A (p.Val2000Met)
ClinVar dbSNP
Xg.154902064delCA2695237872F8c.6103del (p.Val2035CysfsTer?)
c.5998del (p.Val2000CysfsTer?)
Xg.154902064C>ACA519355759F8c.6102G>T (p.Leu2034=)
c.5997G>T (p.Leu1999=)
Xg.154902064C>GCA519355761F8c.6102G>C (p.Leu2034=)
c.5997G>C (p.Leu1999=)
Xg.154902064C>TCA519355763F8c.6102G>A (p.Leu2034=)
c.5997G>A (p.Leu1999=)
Xg.154902065A>CCA414904577F8c.6101T>G (p.Leu2034Arg)
c.5996T>G (p.Leu1999Arg)
Xg.154902065A>GCA414904580F8c.6101T>C (p.Leu2034Pro)
c.5996T>C (p.Leu1999Pro)
Xg.154902065A>TCA414904581F8c.6101T>A (p.Leu2034Gln)
c.5996T>A (p.Leu1999Gln)
Xg.154902066G>ACA519355770F8c.6100C>T (p.Leu2034=)
c.5995C>T (p.Leu1999=)
Xg.154902066G>CCA414904584F8c.6100C>G (p.Leu2034Val)
c.5995C>G (p.Leu1999Val)
Xg.154902066G>TCA414904588F8c.6100C>A (p.Leu2034Met)
c.5995C>A (p.Leu1999Met)
Xg.154902067A>CCA414904592F8c.6099T>G (p.Phe2033Leu)
c.5994T>G (p.Phe1998Leu)
Xg.154902067A>GCA519355776F8c.6099T>C (p.Phe2033=)
c.5994T>C (p.Phe1998=)
Xg.154902067A>TCA414904594F8c.6099T>A (p.Phe2033Leu)
c.5994T>A (p.Phe1998Leu)
Xg.154902071delCA2579744479F8c.6099del (p.Leu2034TrpfsTer?)
c.5994del (p.Leu1999TrpfsTer?)
Xg.154902068A>CCA414904601F8c.6098T>G (p.Phe2033Cys)
c.5993T>G (p.Phe1998Cys)
Xg.154902068A>GCA414904604F8c.6098T>C (p.Phe2033Ser)
c.5993T>C (p.Phe1998Ser)
Xg.154902068A>TCA414904608F8c.6098T>A (p.Phe2033Tyr)
c.5993T>A (p.Phe1998Tyr)
Xg.154902069A>CCA414904611F8c.6097T>G (p.Phe2033Val)
c.5992T>G (p.Phe1998Val)
Xg.154902069A>GCA414904614F8c.6097T>C (p.Phe2033Leu)
c.5992T>C (p.Phe1998Leu)
gnomAD v4
Xg.154902069A>TCA414904629F8c.6097T>A (p.Phe2033Ile)
c.5992T>A (p.Phe1998Ile)
Xg.154902070A>CCA519355784F8c.6096T>G (p.Leu2032=)
c.5991T>G (p.Leu1997=)
Xg.154902070A>GCA519355786F8c.6096T>C (p.Leu2032=)
c.5991T>C (p.Leu1997=)
Xg.154902070A>TCA519355787F8c.6096T>A (p.Leu2032=)
c.5991T>A (p.Leu1997=)
Xg.154902071A>CCA414904640F8c.6095T>G (p.Leu2032Arg)
c.5990T>G (p.Leu1997Arg)
Xg.154902071A>GCA414904631F8c.6095T>C (p.Leu2032Pro)
c.5990T>C (p.Leu1997Pro)
Xg.154902071A>TCA414904634F8c.6095T>A (p.Leu2032His)
c.5990T>A (p.Leu1997His)
Xg.154902072G>ACA414904643F8c.6094C>T (p.Leu2032Phe)
c.5989C>T (p.Leu1997Phe)
gnomAD v4
Xg.154902072G>CCA10567910F8c.6094C>G (p.Leu2032Val)
c.5989C>G (p.Leu1997Val)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154902072G=CA2466827625F8c.6094C= (p.Leu2032=)
c.5989C= (p.Leu1997=)
Xg.154902072G>TCA414904647F8c.6094C>A (p.Leu2032Ile)
c.5989C>A (p.Leu1997Ile)
Xg.154902072delinsAACA2695237875F8c.6094delinsTT (p.Leu2032PhefsTer8)
c.5989delinsTT (p.Leu1997PhefsTer8)
Xg.154902073T>ACA519355796F8c.6093A>T (p.Thr2031=)
c.5988A>T (p.Thr1996=)
gnomAD v4
Xg.154902073T>CCA519355798F8c.6093A>G (p.Thr2031=)
c.5988A>G (p.Thr1996=)
Xg.154902073T>GCA519355800F8c.6093A>C (p.Thr2031=)
c.5988A>C (p.Thr1996=)
gnomAD v4
Xg.154902074G>ACA414904648F8c.6092C>T (p.Thr2031Ile)
c.5987C>T (p.Thr1996Ile)
Xg.154902074G>CCA414904649F8c.6092C>G (p.Thr2031Arg)
c.5987C>G (p.Thr1996Arg)
Xg.154902074G>TCA414904651F8c.6092C>A (p.Thr2031Lys)
c.5987C>A (p.Thr1996Lys)
Xg.154902075T>ACA414904655F8c.6091A>T (p.Thr2031Ser)
c.5986A>T (p.Thr1996Ser)
Xg.154902075T>CCA414904659F8c.6091A>G (p.Thr2031Ala)
c.5986A>G (p.Thr1996Ala)
Xg.154902075T>GCA414904664F8c.6091A>C (p.Thr2031Pro)
c.5986A>C (p.Thr1996Pro)
Xg.154902076G>ACA519355808F8c.6090C>T (p.Ser2030=)
c.5985C>T (p.Ser1995=)
Xg.154902076G>CCA414904666F8c.6090C>G (p.Ser2030Arg)
c.5985C>G (p.Ser1995Arg)
Xg.154902076G>TCA414904668F8c.6090C>A (p.Ser2030Arg)
c.5985C>A (p.Ser1995Arg)
COSMIC COSMIC
Xg.154902077C>ACA414904673F8c.6089G>T (p.Ser2030Ile)
c.5984G>T (p.Ser1995Ile)
Xg.154902077C=CA2466827626F8c.6089G= (p.Ser2030=)
c.5984G= (p.Ser1995=)
Xg.154902077C>GCA414904674F8c.6089G>C (p.Ser2030Thr)
c.5984G>C (p.Ser1995Thr)
dbSNP
Xg.154902077C>TCA10567911F8c.6089G>A (p.Ser2030Asn)
c.5984G>A (p.Ser1995Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902078T>ACA414904677F8c.6088A>T (p.Ser2030Cys)
c.5983A>T (p.Ser1995Cys)
Xg.154902078T>CCA414904684F8c.6088A>G (p.Ser2030Gly)
c.5983A>G (p.Ser1995Gly)
Xg.154902078T>GCA414904686F8c.6088A>C (p.Ser2030Arg)
c.5983A>C (p.Ser1995Arg)
Xg.154902079C>ACA414904688F8c.6087G>T (p.Met2029Ile)
c.5982G>T (p.Met1994Ile)
Xg.154902079C>GCA414904691F8c.6087G>C (p.Met2029Ile)
c.5982G>C (p.Met1994Ile)
Xg.154902079C>TCA414904692F8c.6087G>A (p.Met2029Ile)
c.5982G>A (p.Met1994Ile)
Xg.154902080A>CCA414904695F8c.6086T>G (p.Met2029Arg)
c.5981T>G (p.Met1994Arg)
Xg.154902080A>GCA414904696F8c.6086T>C (p.Met2029Thr)
c.5981T>C (p.Met1994Thr)
Xg.154902080A>TCA414904697F8c.6086T>A (p.Met2029Lys)
c.5981T>A (p.Met1994Lys)
Xg.154902081T>ACA414904698F8c.6085A>T (p.Met2029Leu)
c.5980A>T (p.Met1994Leu)
Xg.154902081T>CCA414904700F8c.6085A>G (p.Met2029Val)
c.5980A>G (p.Met1994Val)
dbSNP
Xg.154902081T>GCA414904703F8c.6085A>C (p.Met2029Leu)
c.5980A>C (p.Met1994Leu)
Xg.154902081T=CA2466827627F8c.6085A= (p.Met2029=)
c.5980A= (p.Met1994=)
Xg.154902082C>ACA519355829F8c.6084G>T (p.Gly2028=)
c.5979G>T (p.Gly1993=)
COSMIC COSMIC
Xg.154902082C=CA2466827628F8c.6084G= (p.Gly2028=)
c.5979G= (p.Gly1993=)
Xg.154902082C>GCA519355831F8c.6084G>C (p.Gly2028=)
c.5979G>C (p.Gly1993=)
Xg.154902082C>TCA519355827F8c.6084G>A (p.Gly2028=)
c.5979G>A (p.Gly1993=)
dbSNP
Xg.154902084delCA2579744480F8c.6084del (p.Met2029Ter)
c.5979del (p.Met1994Ter)
Xg.154902083C>ACA414904706F8c.6083G>T (p.Gly2028Val)
c.5978G>T (p.Gly1993Val)
Xg.154902083C>GCA414904712F8c.6083G>C (p.Gly2028Ala)
c.5978G>C (p.Gly1993Ala)
Xg.154902083C>TCA414904708F8c.6083G>A (p.Gly2028Glu)
c.5978G>A (p.Gly1993Glu)
Xg.154902084C>ACA414904714F8c.6082G>T (p.Gly2028Trp)
c.5977G>T (p.Gly1993Trp)
Xg.154902084C=CA2466827629F8c.6082G= (p.Gly2028=)
c.5977G= (p.Gly1993=)
Xg.154902084C>GCA414904716F8c.6082G>C (p.Gly2028Arg)
c.5977G>C (p.Gly1993Arg)
Xg.154902084C>TCA414904719F8c.6082G>A (p.Gly2028Arg)
c.5977G>A (p.Gly1993Arg)
ClinVar dbSNP gnomAD v4
Xg.154902085A=CA2466827630F8c.6081T= (p.Ala2027=)
c.5976T= (p.Ala1992=)
Xg.154902085A>CCA519355839F8c.6081T>G (p.Ala2027=)
c.5976T>G (p.Ala1992=)
Xg.154902085A>GCA10567912F8c.6081T>C (p.Ala2027=)
c.5976T>C (p.Ala1992=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902085A>TCA519355842F8c.6081T>A (p.Ala2027=)
c.5976T>A (p.Ala1992=)
Xg.154902085dupCA2695237878F8c.6081dup (p.Gly2028TrpfsTer12)
c.5976dup (p.Gly1993TrpfsTer12)
Xg.154902086G>ACA414904725F8c.6080C>T (p.Ala2027Val)
c.5975C>T (p.Ala1992Val)
Xg.154902086G>CCA414904728F8c.6080C>G (p.Ala2027Gly)
c.5975C>G (p.Ala1992Gly)
Xg.154902086G>TCA414904732F8c.6080C>A (p.Ala2027Asp)
c.5975C>A (p.Ala1992Asp)
Xg.154902087C>ACA414904734F8c.6079G>T (p.Ala2027Ser)
c.5974G>T (p.Ala1992Ser)
Xg.154902087C>GCA414904736F8c.6079G>C (p.Ala2027Pro)
c.5974G>C (p.Ala1992Pro)
Xg.154902087C>TCA414904739F8c.6079G>A (p.Ala2027Thr)
c.5974G>A (p.Ala1992Thr)
Xg.154902087_154902088delCA2695237879F8c.6078_6079del (p.Ala2027TrpfsTer12)
c.5973_5974del (p.Ala1992TrpfsTer12)
Xg.154902088A=CA2466827631F8c.6078T= (p.His2026=)
c.5973T= (p.His1991=)
Xg.154902088A>CCA414904741F8c.6078T>G (p.His2026Gln)
c.5973T>G (p.His1991Gln)
Xg.154902088A>GCA519355850F8c.6078T>C (p.His2026=)
c.5973T>C (p.His1991=)
dbSNP gnomAD v2 gnomAD v4
Xg.154902088A>TCA414904742F8c.6078T>A (p.His2026Gln)
c.5973T>A (p.His1991Gln)
Xg.154902089T>ACA414904745F8c.6077A>T (p.His2026Leu)
c.5972A>T (p.His1991Leu)
Xg.154902089T>CCA414904751F8c.6077A>G (p.His2026Arg)
c.5972A>G (p.His1991Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154902089T>GCA414904749F8c.6077A>C (p.His2026Pro)
c.5972A>C (p.His1991Pro)
Xg.154902089T=CA2466827632F8c.6077A= (p.His2026=)
c.5972A= (p.His1991=)
Xg.154902090G>ACA414904757F8c.6076C>T (p.His2026Tyr)
c.5971C>T (p.His1991Tyr)
Xg.154902090G>CCA414904763F8c.6076C>G (p.His2026Asp)
c.5971C>G (p.His1991Asp)
Xg.154902090G>TCA414904766F8c.6076C>A (p.His2026Asn)
c.5971C>A (p.His1991Asn)
Xg.154902091T>ACA519355860F8c.6075A>T (p.Leu2025=)
c.5970A>T (p.Leu1990=)
Xg.154902091T>CCA519355861F8c.6075A>G (p.Leu2025=)
c.5970A>G (p.Leu1990=)
gnomAD v4
Xg.154902091T>GCA519355864F8c.6075A>C (p.Leu2025=)
c.5970A>C (p.Leu1990=)
Xg.154902091dupCA2695237881F8c.6075dup (p.His2026ThrfsTer14)
c.5970dup (p.His1991ThrfsTer14)
Xg.154902092A>CCA414904769F8c.6074T>G (p.Leu2025Arg)
c.5969T>G (p.Leu1990Arg)
Xg.154902092A>GCA414904772F8c.6074T>C (p.Leu2025Pro)
c.5969T>C (p.Leu1990Pro)
Xg.154902092A>TCA414904775F8c.6074T>A (p.Leu2025Gln)
c.5969T>A (p.Leu1990Gln)
Xg.154902093G>ACA519355871F8c.6073C>T (p.Leu2025=)
c.5968C>T (p.Leu1990=)
gnomAD v4
Xg.154902093G>CCA414904777F8c.6073C>G (p.Leu2025Val)
c.5968C>G (p.Leu1990Val)
Xg.154902093G>TCA414904780F8c.6073C>A (p.Leu2025Ile)
c.5968C>A (p.Leu1990Ile)
Xg.154902094A>CCA414904782F8c.6072T>G (p.His2024Gln)
c.5967T>G (p.His1989Gln)
Xg.154902094A>GCA519355873F8c.6072T>C (p.His2024=)
c.5967T>C (p.His1989=)
Xg.154902094A>TCA414904788F8c.6072T>A (p.His2024Gln)
c.5967T>A (p.His1989Gln)
Xg.154902095T>ACA414904795F8c.6071A>T (p.His2024Leu)
c.5966A>T (p.His1989Leu)
Xg.154902095T>CCA414904794F8c.6071A>G (p.His2024Arg)
c.5966A>G (p.His1989Arg)
Xg.154902095T>GCA414904790F8c.6071A>C (p.His2024Pro)
c.5966A>C (p.His1989Pro)
Xg.154902096G>ACA414904797F8c.6070C>T (p.His2024Tyr)
c.5965C>T (p.His1989Tyr)
Xg.154902096G>CCA414904798F8c.6070C>G (p.His2024Asp)
c.5965C>G (p.His1989Asp)
Xg.154902096G>TCA414904801F8c.6070C>A (p.His2024Asn)
c.5965C>A (p.His1989Asn)
Xg.154902096dupCA2695237882F8c.6070dup (p.His2024ProfsTer16)
c.5965dup (p.His1989ProfsTer16)
Xg.154902097C>ACA414904803F8c.6069G>T (p.Glu2023Asp)
c.5964G>T (p.Glu1988Asp)
Xg.154902097C>GCA414904805F8c.6069G>C (p.Glu2023Asp)
c.5964G>C (p.Glu1988Asp)
Xg.154902097C>TCA519355884F8c.6069G>A (p.Glu2023=)
c.5964G>A (p.Glu1988=)
Xg.154902098T>ACA414904808F8c.6068A>T (p.Glu2023Val)
c.5963A>T (p.Glu1988Val)
Xg.154902098T>CCA414904809F8c.6068A>G (p.Glu2023Gly)
c.5963A>G (p.Glu1988Gly)
Xg.154902098T>GCA414904810F8c.6068A>C (p.Glu2023Ala)
c.5963A>C (p.Glu1988Ala)
Xg.154902099C>ACA414904811F8c.6067G>T (p.Glu2023Ter)
c.5962G>T (p.Glu1988Ter)
gnomAD v4
Xg.154902099C=CA2466827633F8c.6067G= (p.Glu2023=)
c.5962G= (p.Glu1988=)
Xg.154902099C>GCA414904812F8c.6067G>C (p.Glu2023Gln)
c.5962G>C (p.Glu1988Gln)
Xg.154902099C>TCA10567913F8c.6067G>A (p.Glu2023Lys)
c.5962G>A (p.Glu1988Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902100G>ACA519355892F8c.6066C>T (p.Gly2022=)
c.5961C>T (p.Gly1987=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902100G>CCA519355893F8c.6066C>G (p.Gly2022=)
c.5961C>G (p.Gly1987=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902100G=CA2466827634F8c.6066C= (p.Gly2022=)
c.5961C= (p.Gly1987=)
Xg.154902100G>TCA519355895F8c.6066C>A (p.Gly2022=)
c.5961C>A (p.Gly1987=)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154902101C>ACA414904827F8c.6065G>T (p.Gly2022Val)
c.5960G>T (p.Gly1987Val)
Xg.154902101C=CA2466827635F8c.6065G= (p.Gly2022=)
c.5960G= (p.Gly1987=)
Xg.154902101C>GCA414904817F8c.6065G>C (p.Gly2022Ala)
c.5960G>C (p.Gly1987Ala)
Xg.154902101C>TCA414904814F8c.6065G>A (p.Gly2022Asp)
c.5960G>A (p.Gly1987Asp)
dbSNP
Xg.154902102C>ACA414904831F8c.6064G>T (p.Gly2022Cys)
c.5959G>T (p.Gly1987Cys)
Xg.154902102C>GCA414904836F8c.6064G>C (p.Gly2022Arg)
c.5959G>C (p.Gly1987Arg)
Xg.154902102C>TCA414904839F8c.6064G>A (p.Gly2022Ser)
c.5959G>A (p.Gly1987Ser)
Xg.154902103A>CCA414904842F8c.6063T>G (p.Ile2021Met)
c.5958T>G (p.Ile1986Met)
Xg.154902103A>GCA519355909F8c.6063T>C (p.Ile2021=)
c.5958T>C (p.Ile1986=)
Xg.154902103A>TCA519355907F8c.6063T>A (p.Ile2021=)
c.5958T>A (p.Ile1986=)
Xg.154902104A=CA2466827636F8c.6062T= (p.Ile2021=)
c.5957T= (p.Ile1986=)
Xg.154902104A>CCA414904845F8c.6062T>G (p.Ile2021Ser)
c.5957T>G (p.Ile1986Ser)
dbSNP gnomAD v2 gnomAD v4
Xg.154902104A>GCA414904847F8c.6062T>C (p.Ile2021Thr)
c.5957T>C (p.Ile1986Thr)
dbSNP gnomAD v2 gnomAD v4
Xg.154902104A>TCA414904850F8c.6062T>A (p.Ile2021Asn)
c.5957T>A (p.Ile1986Asn)
Xg.154902105T>ACA414904852F8c.6061A>T (p.Ile2021Phe)
c.5956A>T (p.Ile1986Phe)
Xg.154902105T>CCA414904855F8c.6061A>G (p.Ile2021Val)
c.5956A>G (p.Ile1986Val)
Xg.154902105T>GCA414904857F8c.6061A>C (p.Ile2021Leu)
c.5956A>C (p.Ile1986Leu)
Xg.154902106A>CCA519355920F8c.6060T>G (p.Leu2020=)
c.5955T>G (p.Leu1985=)
Xg.154902106A>GCA519355922F8c.6060T>C (p.Leu2020=)
c.5955T>C (p.Leu1985=)
Xg.154902106A>TCA519355924F8c.6060T>A (p.Leu2020=)
c.5955T>A (p.Leu1985=)
Xg.154902107A>CCA414904861F8c.6059T>G (p.Leu2020Arg)
c.5954T>G (p.Leu1985Arg)
Xg.154902107A>GCA414904863F8c.6059T>C (p.Leu2020Pro)
c.5954T>C (p.Leu1985Pro)
Xg.154902107A>TCA414904866F8c.6059T>A (p.Leu2020His)
c.5954T>A (p.Leu1985His)
Xg.154902108G>ACA414904869F8c.6058C>T (p.Leu2020Phe)
c.5953C>T (p.Leu1985Phe)
COSMIC COSMIC
Xg.154902108G>CCA414904874F8c.6058C>G (p.Leu2020Val)
c.5953C>G (p.Leu1985Val)
Xg.154902108G>TCA414904872F8c.6058C>A (p.Leu2020Ile)
c.5953C>A (p.Leu1985Ile)
Xg.154902109G>ACA519355936F8c.6057C>T (p.Cys2019=)
c.5952C>T (p.Cys1984=)
Xg.154902109G>CCA414904876F8c.6057C>G (p.Cys2019Trp)
c.5952C>G (p.Cys1984Trp)
Xg.154902109G=CA2466827637F8c.6057C= (p.Cys2019=)
c.5952C= (p.Cys1984=)
Xg.154902109G>TCA414904887F8c.6057C>A (p.Cys2019Ter)
c.5952C>A (p.Cys1984Ter)
dbSNP
Xg.154902110C>ACA414904890F8c.6056G>T (p.Cys2019Phe)
c.5951G>T (p.Cys1984Phe)
Xg.154902110C=CA2466827638F8c.6056G= (p.Cys2019=)
c.5951G= (p.Cys1984=)
Xg.154902110C>GCA414904892F8c.6056G>C (p.Cys2019Ser)
c.5951G>C (p.Cys1984Ser)
Xg.154902110C>TCA414904894F8c.6056G>A (p.Cys2019Tyr)
c.5951G>A (p.Cys1984Tyr)
dbSNP
Xg.154902111A=CA2466827639F8c.6055T= (p.Cys2019=)
c.5950T= (p.Cys1984=)
Xg.154902111A>CCA414904898F8c.6055T>G (p.Cys2019Gly)
c.5950T>G (p.Cys1984Gly)
Xg.154902111A>GCA414904903F8c.6055T>C (p.Cys2019Arg)
c.5950T>C (p.Cys1984Arg)
dbSNP
Xg.154902111A>TCA414904904F8c.6055T>A (p.Cys2019Ser)
c.5950T>A (p.Cys1984Ser)
gnomAD v4
Xg.154902112T>ACA414904909F8c.6054A>T (p.Glu2018Asp)
c.5949A>T (p.Glu1983Asp)
Xg.154902112T>CCA519355947F8c.6054A>G (p.Glu2018=)
c.5949A>G (p.Glu1983=)
Xg.154902112T>GCA414904911F8c.6054A>C (p.Glu2018Asp)
c.5949A>C (p.Glu1983Asp)
Xg.154902113T>ACA414904919F8c.6053A>T (p.Glu2018Val)
c.5948A>T (p.Glu1983Val)
Xg.154902113T>CCA414904914F8c.6053A>G (p.Glu2018Gly)
c.5948A>G (p.Glu1983Gly)
dbSNP
Xg.154902113T>GCA414904917F8c.6053A>C (p.Glu2018Ala)
c.5948A>C (p.Glu1983Ala)
Xg.154902113T=CA2466827640F8c.6053A= (p.Glu2018=)
c.5948A= (p.Glu1983=)
Xg.154902114C>ACA414904922F8c.6052G>T (p.Glu2018Ter)
c.5947G>T (p.Glu1983Ter)
dbSNP
Xg.154902114C=CA2466827641F8c.6052G= (p.Glu2018=)
c.5947G= (p.Glu1983=)
Xg.154902114C>GCA414904927F8c.6052G>C (p.Glu2018Gln)
c.5947G>C (p.Glu1983Gln)
Xg.154902114C>TCA414904925F8c.6052G>A (p.Glu2018Lys)
c.5947G>A (p.Glu1983Lys)
ClinVar
Xg.154902115delCA2695237886F8c.6052del (p.Glu2018AsnfsTer12)
c.5947del (p.Glu1983AsnfsTer12)
Xg.154902115C>ACA519355949F8c.6051G>T (p.Val2017=)
c.5946G>T (p.Val1982=)
Xg.154902115C>GCA519355950F8c.6051G>C (p.Val2017=)
c.5946G>C (p.Val1982=)
gnomAD v4
Xg.154902115C>TCA519355951F8c.6051G>A (p.Val2017=)
c.5946G>A (p.Val1982=)
gnomAD v4 COSMIC COSMIC
Xg.154902116A=CA2466827643F8c.6050T= (p.Val2017=)
c.5945T= (p.Val1982=)
Xg.154902116A>CCA414904930F8c.6050T>G (p.Val2017Gly)
c.5945T>G (p.Val1982Gly)
Xg.154902116A>GCA414904934F8c.6050T>C (p.Val2017Ala)
c.5945T>C (p.Val1982Ala)
dbSNP
Xg.154902116A>TCA414904931F8c.6050T>A (p.Val2017Glu)
c.5945T>A (p.Val1982Glu)
Xg.154902116_154902117delinsACCA2466827642F8c.6049_6050delinsGT (p.Val2017=)
c.5944_5945delinsGT (p.Val1982=)
Xg.154902117C>ACA414904937F8c.6049G>T (p.Val2017Leu)
c.5944G>T (p.Val1982Leu)
Xg.154902117C=CA2466827644F8c.6049G= (p.Val2017=)
c.5944G= (p.Val1982=)
Xg.154902117C>GCA414904939F8c.6049G>C (p.Val2017Leu)
c.5944G>C (p.Val1982Leu)
Xg.154902117C>TCA414904941F8c.6049G>A (p.Val2017Met)
c.5944G>A (p.Val1982Met)
dbSNP gnomAD v4
Xg.154902119delCA255194F8c.6049del (p.Val2017TrpfsTer13)
c.5944del (p.Val1982TrpfsTer13)
ClinVar dbSNP
Xg.154902118C>ACA519355953F8c.6048G>T (p.Arg2016=)
c.5943G>T (p.Arg1981=)
gnomAD v4
Xg.154902118C>GCA519355955F8c.6048G>C (p.Arg2016=)
c.5943G>C (p.Arg1981=)
Xg.154902118C>TCA519355954F8c.6048G>A (p.Arg2016=)
c.5943G>A (p.Arg1981=)
dbSNP
Xg.154902119C>ACA414904946F8c.6047G>T (p.Arg2016Leu)
c.5942G>T (p.Arg1981Leu)
dbSNP
Xg.154902119C=CA2466827645F8c.6047G= (p.Arg2016=)
c.5942G= (p.Arg1981=)
Xg.154902119C>GCA414904949F8c.6047G>C (p.Arg2016Pro)
c.5942G>C (p.Arg1981Pro)
Xg.154902119C>TCA414904951F8c.6047G>A (p.Arg2016Gln)
c.5942G>A (p.Arg1981Gln)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.154902120G>ACA255197F8c.6046C>T (p.Arg2016Trp)
c.5941C>T (p.Arg1981Trp)
ClinVar dbSNP gnomAD v4
Xg.154902120G>CCA414904955F8c.6046C>G (p.Arg2016Gly)
c.5941C>G (p.Arg1981Gly)
Xg.154902120G=CA2466827646F8c.6046C= (p.Arg2016=)
c.5941C= (p.Arg1981=)
Xg.154902120G>TCA519355956F8c.6046C>A (p.Arg2016=)
c.5941C>A (p.Arg1981=)
Xg.154902121C>ACA414904961F8c.6045G>T (p.Trp2015Cys)
c.5940G>T (p.Trp1980Cys)
dbSNP
Xg.154902121C=CA2466827647F8c.6045G= (p.Trp2015=)
c.5940G= (p.Trp1980=)
Xg.154902121C>GCA414904960F8c.6045G>C (p.Trp2015Cys)
c.5940G>C (p.Trp1980Cys)
Xg.154902121C>TCA414904959F8c.6045G>A (p.Trp2015Ter)
c.5940G>A (p.Trp1980Ter)
Xg.154902122C>ACA414904963F8c.6044G>T (p.Trp2015Leu)
c.5939G>T (p.Trp1980Leu)
Xg.154902122C=CA2466827648F8c.6044G= (p.Trp2015=)
c.5939G= (p.Trp1980=)
Xg.154902122C>GCA414904964F8c.6044G>C (p.Trp2015Ser)
c.5939G>C (p.Trp1980Ser)
Xg.154902122C>TCA414904965F8c.6044G>A (p.Trp2015Ter)
c.5939G>A (p.Trp1980Ter)
dbSNP
Xg.154902123A=CA2466827649F8c.6043T= (p.Trp2015=)
c.5938T= (p.Trp1980=)
Xg.154902123A>CCA414904967F8c.6043T>G (p.Trp2015Gly)
c.5938T>G (p.Trp1980Gly)
Xg.154902123A>GCA414904969F8c.6043T>C (p.Trp2015Arg)
c.5938T>C (p.Trp1980Arg)
ClinVar dbSNP
Xg.154902123A>TCA414904970F8c.6043T>A (p.Trp2015Arg)
c.5938T>A (p.Trp1980Arg)
Xg.154902124A>CCA414904972F8c.6042T>G (p.Ile2014Met)
c.5937T>G (p.Ile1979Met)
Xg.154902124A>GCA519355957F8c.6042T>C (p.Ile2014=)
c.5937T>C (p.Ile1979=)
Xg.154902124A>TCA519355958F8c.6042T>A (p.Ile2014=)
c.5937T>A (p.Ile1979=)
Xg.154902125A>CCA414904976F8c.6041T>G (p.Ile2014Ser)
c.5936T>G (p.Ile1979Ser)
Xg.154902125A>GCA414904978F8c.6041T>C (p.Ile2014Thr)
c.5936T>C (p.Ile1979Thr)
Xg.154902125A>TCA414904979F8c.6041T>A (p.Ile2014Asn)
c.5936T>A (p.Ile1979Asn)
Xg.154902128_154902148delCA2695237888F8c.6021_6041del (p.Met2007_Gly2013del)
c.5916_5936del (p.Met1972_Gly1978del)
Xg.154902126T>ACA414904985F8c.6040A>T (p.Ile2014Phe)
c.5935A>T (p.Ile1979Phe)
Xg.154902126T>CCA414904982F8c.6040A>G (p.Ile2014Val)
c.5935A>G (p.Ile1979Val)
Xg.154902126T>GCA414904981F8c.6040A>C (p.Ile2014Leu)
c.5935A>C (p.Ile1979Leu)
Xg.154902127T>ACA519355959F8c.6039A>T (p.Gly2013=)
c.5934A>T (p.Gly1978=)
Xg.154902127T>CCA519355960F8c.6039A>G (p.Gly2013=)
c.5934A>G (p.Gly1978=)
Xg.154902127T>GCA519355961F8c.6039A>C (p.Gly2013=)
c.5934A>C (p.Gly1978=)
Xg.154902128C>ACA414904987F8c.6038G>T (p.Gly2013Val)
c.5933G>T (p.Gly1978Val)
Xg.154902128C>GCA414904988F8c.6038G>C (p.Gly2013Ala)
c.5933G>C (p.Gly1978Ala)
Xg.154902128C>TCA414904993F8c.6038G>A (p.Gly2013Glu)
c.5933G>A (p.Gly1978Glu)
Xg.154902129C>ACA414904996F8c.6037G>T (p.Gly2013Ter)
c.5932G>T (p.Gly1978Ter)
Xg.154902129C>GCA414904997F8c.6037G>C (p.Gly2013Arg)
c.5932G>C (p.Gly1978Arg)
Xg.154902129C>TCA414904999F8c.6037G>A (p.Gly2013Arg)
c.5932G>A (p.Gly1978Arg)
Xg.154902130A>CCA519355963F8c.6036T>G (p.Ala2012=)
c.5931T>G (p.Ala1977=)
Xg.154902130A>GCA519355964F8c.6036T>C (p.Ala2012=)
c.5931T>C (p.Ala1977=)
Xg.154902130A>TCA519355965F8c.6036T>A (p.Ala2012=)
c.5931T>A (p.Ala1977=)
Xg.154902131G>ACA414905001F8c.6035C>T (p.Ala2012Val)
c.5930C>T (p.Ala1977Val)
Xg.154902131G>CCA414905003F8c.6035C>G (p.Ala2012Gly)
c.5930C>G (p.Ala1977Gly)
Xg.154902131G>TCA414905005F8c.6035C>A (p.Ala2012Asp)
c.5930C>A (p.Ala1977Asp)
Xg.154902132C>ACA414905008F8c.6034G>T (p.Ala2012Ser)
c.5929G>T (p.Ala1977Ser)
Xg.154902132C>GCA414905011F8c.6034G>C (p.Ala2012Pro)
c.5929G>C (p.Ala1977Pro)
Xg.154902132C>TCA414905016F8c.6034G>A (p.Ala2012Thr)
c.5929G>A (p.Ala1977Thr)
Xg.154902133T>ACA414905017F8c.6033A>T (p.Lys2011Asn)
c.5928A>T (p.Lys1976Asn)
Xg.154902133T>CCA519355966F8c.6033A>G (p.Lys2011=)
c.5928A>G (p.Lys1976=)
Xg.154902133T>GCA414905018F8c.6033A>C (p.Lys2011Asn)
c.5928A>C (p.Lys1976Asn)
Xg.154902134T>ACA414905021F8c.6032A>T (p.Lys2011Ile)
c.5927A>T (p.Lys1976Ile)
Xg.154902134T>CCA414905023F8c.6032A>G (p.Lys2011Arg)
c.5927A>G (p.Lys1976Arg)
Xg.154902134T>GCA414905025F8c.6032A>C (p.Lys2011Thr)
c.5927A>C (p.Lys1976Thr)
Xg.154902135T>ACA414905028F8c.6031A>T (p.Lys2011Ter)
c.5926A>T (p.Lys1976Ter)
Xg.154902135T>CCA414905029F8c.6031A>G (p.Lys2011Glu)
c.5926A>G (p.Lys1976Glu)
Xg.154902135T>GCA414905035F8c.6031A>C (p.Lys2011Gln)
c.5926A>C (p.Lys1976Gln)
Xg.154902135_154902136insCTTCCTTTCTCA2520132336F8c.6031_6032insGAAAGGAAGA (p.Lys2011ArgfsTer32)
c.5926_5927insGAAAGGAAGA (p.Lys1976ArgfsTer32)
Xg.154902136G>ACA10567914F8c.6030C>T (p.Ser2010=)
c.5925C>T (p.Ser1975=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154902136G>CCA519355968F8c.6030C>G (p.Ser2010=)
c.5925C>G (p.Ser1975=)
Xg.154902136G=CA2466827650F8c.6030C= (p.Ser2010=)
c.5925C= (p.Ser1975=)
Xg.154902136G>TCA519355969F8c.6030C>A (p.Ser2010=)
c.5925C>A (p.Ser1975=)
Xg.154902137delCA2695237890F8c.6030del (p.Ala2012LeufsTer18)
c.5925del (p.Ala1977LeufsTer18)
Xg.154902137G>ACA414905039F8c.6029C>T (p.Ser2010Phe)
c.5924C>T (p.Ser1975Phe)
Xg.154902137G>CCA414905040F8c.6029C>G (p.Ser2010Cys)
c.5924C>G (p.Ser1975Cys)
Xg.154902137G=CA2466827651F8c.6029C= (p.Ser2010=)
c.5924C= (p.Ser1975=)
Xg.154902137G>TCA414905042F8c.6029C>A (p.Ser2010Tyr)
c.5924C>A (p.Ser1975Tyr)
gnomAD v4
Xg.154902138delCA2695237891F8c.6028del (p.Ser2010ProfsTer20)
c.5923del (p.Ser1975ProfsTer20)
Xg.154902138A=CA2466827652F8c.6028T= (p.Ser2010=)
c.5923T= (p.Ser1975=)
Xg.154902138A>CCA414905050F8c.6028T>G (p.Ser2010Ala)
c.5923T>G (p.Ser1975Ala)
Xg.154902138A>GCA414905047F8c.6028T>C (p.Ser2010Pro)
c.5923T>C (p.Ser1975Pro)
dbSNP gnomAD v3 gnomAD v4
Xg.154902138A>TCA414905045F8c.6028T>A (p.Ser2010Thr)
c.5923T>A (p.Ser1975Thr)
dbSNP gnomAD v2 gnomAD v4
Xg.154902138dupCA873340122F8c.6028dup (p.Ser2010PhefsTer30)
c.5923dup (p.Ser1975PhefsTer30)
dbSNP
Xg.154902139T>ACA519355972F8c.6027A>T (p.Pro2009=)
c.5922A>T (p.Pro1974=)
Xg.154902139T>CCA519355971F8c.6027A>G (p.Pro2009=)
c.5922A>G (p.Pro1974=)
Xg.154902139T>GCA519355970F8c.6027A>C (p.Pro2009=)
c.5922A>C (p.Pro1974=)
gnomAD v4
Xg.154902140G>ACA414905054F8c.6026C>T (p.Pro2009Leu)
c.5921C>T (p.Pro1974Leu)
Xg.154902140G>CCA414905053F8c.6026C>G (p.Pro2009Arg)
c.5921C>G (p.Pro1974Arg)
Xg.154902140G>TCA414905058F8c.6026C>A (p.Pro2009Gln)
c.5921C>A (p.Pro1974Gln)
Xg.154902141G>ACA414905060F8c.6025C>T (p.Pro2009Ser)
c.5920C>T (p.Pro1974Ser)
dbSNP
Xg.154902141G>CCA414905062F8c.6025C>G (p.Pro2009Ala)
c.5920C>G (p.Pro1974Ala)
Xg.154902141G=CA2466827653F8c.6025C= (p.Pro2009=)
c.5920C= (p.Pro1974=)
Xg.154902141G>TCA414905064F8c.6025C>A (p.Pro2009Thr)
c.5920C>A (p.Pro1974Thr)
Xg.154902142T>ACA414905068F8c.6024A>T (p.Leu2008Phe)
c.5919A>T (p.Leu1973Phe)
Xg.154902142T>CCA519355976F8c.6024A>G (p.Leu2008=)
c.5919A>G (p.Leu1973=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.154902142T>GCA414905070F8c.6024A>C (p.Leu2008Phe)
c.5919A>C (p.Leu1973Phe)
Xg.154902142T=CA2466827654F8c.6024A= (p.Leu2008=)
c.5919A= (p.Leu1973=)
Xg.154902143A>CCA414905071F8c.6023T>G (p.Leu2008Ter)
c.5918T>G (p.Leu1973Ter)
Xg.154902143A>GCA414905072F8c.6023T>C (p.Leu2008Ser)
c.5918T>C (p.Leu1973Ser)
Xg.154902143A>TCA414905073F8c.6023T>A (p.Leu2008Ter)
c.5918T>A (p.Leu1973Ter)
Xg.154902144A>CCA414905074F8c.6022T>G (p.Leu2008Val)
c.5917T>G (p.Leu1973Val)
Xg.154902144A>GCA519355977F8c.6022T>C (p.Leu2008=)
c.5917T>C (p.Leu1973=)
Xg.154902144A>TCA414905075F8c.6022T>A (p.Leu2008Ile)
c.5917T>A (p.Leu1973Ile)
Xg.154902145delCA2695237894F8c.6021del (p.Met2007IlefsTer23)
c.5916del (p.Met1972IlefsTer23)
Xg.154902145C>ACA414905080F8c.6021G>T (p.Met2007Ile)
c.5916G>T (p.Met1972Ile)
Xg.154902145C>GCA414905078F8c.6021G>C (p.Met2007Ile)
c.5916G>C (p.Met1972Ile)
Xg.154902145C>TCA414905076F8c.6021G>A (p.Met2007Ile)
c.5916G>A (p.Met1972Ile)
Xg.154902146delCA2573055177F8c.6020del (p.Met2007SerfsTer23)
c.5915del (p.Met1972SerfsTer23)
ClinVar dbSNP
Xg.154902146A=CA2466827655F8c.6020T= (p.Met2007=)
c.5915T= (p.Met1972=)
Xg.154902146A>CCA414905081F8c.6020T>G (p.Met2007Arg)
c.5915T>G (p.Met1972Arg)
Xg.154902146A>GCA414905083F8c.6020T>C (p.Met2007Thr)
c.5915T>C (p.Met1972Thr)
dbSNP
Xg.154902146A>TCA414905085F8c.6020T>A (p.Met2007Lys)
c.5915T>A (p.Met1972Lys)
Xg.154902147T>ACA414905086F8c.6019A>T (p.Met2007Leu)
c.5914A>T (p.Met1972Leu)
Xg.154902147T>CCA414905087F8c.6019A>G (p.Met2007Val)
c.5914A>G (p.Met1972Val)
Xg.154902147T>GCA414905090F8c.6019A>C (p.Met2007Leu)
c.5914A>C (p.Met1972Leu)
Xg.154902149dupCA2695237896F8c.6019dup (p.Met2007AsnfsTer?)
c.5914dup (p.Met1972AsnfsTer?)
Xg.154902148T>ACA414905093F8c.6018A>T (p.Glu2006Asp)
c.5913A>T (p.Glu1971Asp)
dbSNP
Xg.154902148T>CCA519355978F8c.6018A>G (p.Glu2006=)
c.5913A>G (p.Glu1971=)
Xg.154902148T>GCA414905094F8c.6018A>C (p.Glu2006Asp)
c.5913A>C (p.Glu1971Asp)
Xg.154902148T=CA2466827656F8c.6018A= (p.Glu2006=)
c.5913A= (p.Glu1971=)
Xg.154902149T>ACA414905098F8c.6017A>T (p.Glu2006Val)
c.5912A>T (p.Glu1971Val)
Xg.154902149T>CCA414905100F8c.6017A>G (p.Glu2006Gly)
c.5912A>G (p.Glu1971Gly)
Xg.154902149T>GCA414905103F8c.6017A>C (p.Glu2006Ala)
c.5912A>C (p.Glu1971Ala)
Xg.154902150C>ACA255195F8c.6016G>T (p.Glu2006Ter)
c.5911G>T (p.Glu1971Ter)
ClinVar dbSNP
Xg.154902150C=CA2466827657F8c.6016G= (p.Glu2006=)
c.5911G= (p.Glu1971=)
Xg.154902150C>GCA414905110F8c.6016G>C (p.Glu2006Gln)
c.5911G>C (p.Glu1971Gln)
Xg.154902150C>TCA414905108F8c.6016G>A (p.Glu2006Lys)
c.5911G>A (p.Glu1971Lys)
dbSNP gnomAD v4 COSMIC COSMIC
Xg.154902151C>ACA519355979F8c.6015G>T (p.Val2005=)
c.5910G>T (p.Val1970=)
Xg.154902151C=CA2466827658F8c.6015G= (p.Val2005=)
c.5910G= (p.Val1970=)
Xg.154902151C>GCA519355980F8c.6015G>C (p.Val2005=)
c.5910G>C (p.Val1970=)
Xg.154902151C>TCA519355981F8c.6015G>A (p.Val2005=)
c.5910G>A (p.Val1970=)
dbSNP
Xg.154902152A>CCA414905117F8c.6014T>G (p.Val2005Gly)
c.5909T>G (p.Val1970Gly)
Xg.154902152A>GCA414905121F8c.6014T>C (p.Val2005Ala)
c.5909T>C (p.Val1970Ala)
Xg.154902152A>TCA414905123F8c.6014T>A (p.Val2005Glu)
c.5909T>A (p.Val1970Glu)
Xg.154902153C>ACA414905126F8c.6013G>T (p.Val2005Leu)
c.5908G>T (p.Val1970Leu)
Xg.154902153C>GCA414905128F8c.6013G>C (p.Val2005Leu)
c.5908G>C (p.Val1970Leu)
Xg.154902153C>TCA414905130F8c.6013G>A (p.Val2005Met)
c.5908G>A (p.Val1970Met)
gnomAD v4
Xg.154902154T>ACA519355983F8c.6012A>T (p.Thr2004=)
c.5907A>T (p.Thr1969=)
Xg.154902154T>CCA337317659F8c.6012A>G (p.Thr2004=)
c.5907A>G (p.Thr1969=)
dbSNP gnomAD v4
Xg.154902154T>GCA519355984F8c.6012A>C (p.Thr2004=)
c.5907A>C (p.Thr1969=)
Xg.154902154T=CA2466827659F8c.6012A= (p.Thr2004=)
c.5907A= (p.Thr1969=)
Xg.154902155G>ACA414905135F8c.6011C>T (p.Thr2004Ile)
c.5906C>T (p.Thr1969Ile)
dbSNP
Xg.154902155G>CCA414905139F8c.6011C>G (p.Thr2004Arg)
c.5906C>G (p.Thr1969Arg)
Xg.154902155G=CA2466827660F8c.6011C= (p.Thr2004=)
c.5906C= (p.Thr1969=)
Xg.154902155G>TCA414905140F8c.6011C>A (p.Thr2004Lys)
c.5906C>A (p.Thr1969Lys)
gnomAD v4

Number of alleles fetched