Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154928623C>ACA414913645F8c.5167G>T (p.Glu1723Ter)
c.5062G>T (p.Glu1688Ter)
dbSNP
Xg.154928623C=CA2466835746F8c.5167G= (p.Glu1723=)
c.5062G= (p.Glu1688=)
Xg.154928623C>GCA414913646F8c.5167G>C (p.Glu1723Gln)
c.5062G>C (p.Glu1688Gln)
Xg.154928623C>TCA255040F8c.5167G>A (p.Glu1723Lys)
c.5062G>A (p.Glu1688Lys)
ClinVar dbSNP COSMIC COSMIC
Xg.154928624C>ACA519718353F8c.5166G>T (p.Val1722=)
c.5061G>T (p.Val1687=)
Xg.154928624C>GCA519718354F8c.5166G>C (p.Val1722=)
c.5061G>C (p.Val1687=)
Xg.154928624C>TCA519718355F8c.5166G>A (p.Val1722=)
c.5061G>A (p.Val1687=)
Xg.154928625A=CA2466835747F8c.5165T= (p.Val1722=)
c.5060T= (p.Val1687=)
Xg.154928625A>CCA414913656F8c.5165T>G (p.Val1722Gly)
c.5060T>G (p.Val1687Gly)
Xg.154928625A>GCA414913654F8c.5165T>C (p.Val1722Ala)
c.5060T>C (p.Val1687Ala)
dbSNP gnomAD v4
Xg.154928625A>TCA414913652F8c.5165T>A (p.Val1722Glu)
c.5060T>A (p.Val1687Glu)
Xg.154928626C>ACA414913662F8c.5164G>T (p.Val1722Leu)
c.5059G>T (p.Val1687Leu)
Xg.154928626C=CA2466835748F8c.5164G= (p.Val1722=)
c.5059G= (p.Val1687=)
Xg.154928626C>GCA414913664F8c.5164G>C (p.Val1722Leu)
c.5059G>C (p.Val1687Leu)
Xg.154928626C>TCA414913665F8c.5164G>A (p.Val1722Met)
c.5059G>A (p.Val1687Met)
ClinVar dbSNP
Xg.154928627T>ACA519718356F8c.5163A>T (p.Ala1721=)
c.5058A>T (p.Ala1686=)
Xg.154928627T>CCA519718357F8c.5163A>G (p.Ala1721=)
c.5058A>G (p.Ala1686=)
Xg.154928627T>GCA519718358F8c.5163A>C (p.Ala1721=)
c.5058A>C (p.Ala1686=)
Xg.154928627dupCA2695237887F8c.5163dup (p.Val1722SerfsTer11)
c.5058dup (p.Val1687SerfsTer11)
Xg.154928628G>ACA414913667F8c.5162C>T (p.Ala1721Val)
c.5057C>T (p.Ala1686Val)
Xg.154928628G>CCA414913669F8c.5162C>G (p.Ala1721Gly)
c.5057C>G (p.Ala1686Gly)
Xg.154928628G>TCA414913671F8c.5162C>A (p.Ala1721Glu)
c.5057C>A (p.Ala1686Glu)
Xg.154928629C>ACA414913674F8c.5161G>T (p.Ala1721Ser)
c.5056G>T (p.Ala1686Ser)
Xg.154928629C>GCA414913675F8c.5161G>C (p.Ala1721Pro)
c.5056G>C (p.Ala1686Pro)
Xg.154928629C>TCA414913677F8c.5161G>A (p.Ala1721Thr)
c.5056G>A (p.Ala1686Thr)
Xg.154928630A>CCA519718361F8c.5160T>G (p.Ala1720=)
c.5055T>G (p.Ala1685=)
Xg.154928630A>GCA519718359F8c.5160T>C (p.Ala1720=)
c.5055T>C (p.Ala1685=)
gnomAD v4
Xg.154928630A>TCA519718360F8c.5160T>A (p.Ala1720=)
c.5055T>A (p.Ala1685=)
Xg.154928631G>ACA414913679F8c.5159C>T (p.Ala1720Val)
c.5054C>T (p.Ala1685Val)
Xg.154928631G>CCA414913681F8c.5159C>G (p.Ala1720Gly)
c.5054C>G (p.Ala1685Gly)
Xg.154928631G>TCA414913682F8c.5159C>A (p.Ala1720Asp)
c.5054C>A (p.Ala1685Asp)
Xg.154928632C>ACA414913686F8c.5158G>T (p.Ala1720Ser)
c.5053G>T (p.Ala1685Ser)
gnomAD v4
Xg.154928632C>GCA414913685F8c.5158G>C (p.Ala1720Pro)
c.5053G>C (p.Ala1685Pro)
Xg.154928632C>TCA414913684F8c.5158G>A (p.Ala1720Thr)
c.5053G>A (p.Ala1685Thr)
Xg.154928633A>CCA414913687F8c.5157T>G (p.Ile1719Met)
c.5052T>G (p.Ile1684Met)
Xg.154928633A>GCA519718362F8c.5157T>C (p.Ile1719=)
c.5052T>C (p.Ile1684=)
Xg.154928633A>TCA519718363F8c.5157T>A (p.Ile1719=)
c.5052T>A (p.Ile1684=)
Xg.154928637_154928641delCA2695237889F8c.5153_5157del (p.Phe1718CysfsTer13)
c.5048_5052del (p.Phe1683CysfsTer13)
Xg.154928634A>CCA414913688F8c.5156T>G (p.Ile1719Ser)
c.5051T>G (p.Ile1684Ser)
Xg.154928634A>GCA414913690F8c.5156T>C (p.Ile1719Thr)
c.5051T>C (p.Ile1684Thr)
Xg.154928634A>TCA414913692F8c.5156T>A (p.Ile1719Asn)
c.5051T>A (p.Ile1684Asn)
Xg.154928635T>ACA414913694F8c.5155A>T (p.Ile1719Phe)
c.5050A>T (p.Ile1684Phe)
Xg.154928635T>CCA414913695F8c.5155A>G (p.Ile1719Val)
c.5050A>G (p.Ile1684Val)
Xg.154928635T>GCA414913696F8c.5155A>C (p.Ile1719Leu)
c.5050A>C (p.Ile1684Leu)
Xg.154928636A>CCA414913698F8c.5154T>G (p.Phe1718Leu)
c.5049T>G (p.Phe1683Leu)
Xg.154928636A>GCA519718364F8c.5154T>C (p.Phe1718=)
c.5049T>C (p.Phe1683=)
Xg.154928636A>TCA414913699F8c.5154T>A (p.Phe1718Leu)
c.5049T>A (p.Phe1683Leu)
Xg.154928637A>CCA414913702F8c.5153T>G (p.Phe1718Cys)
c.5048T>G (p.Phe1683Cys)
Xg.154928637A>GCA414913703F8c.5153T>C (p.Phe1718Ser)
c.5048T>C (p.Phe1683Ser)
Xg.154928637A>TCA414913705F8c.5153T>A (p.Phe1718Tyr)
c.5048T>A (p.Phe1683Tyr)
Xg.154928638A>CCA414913711F8c.5152T>G (p.Phe1718Val)
c.5047T>G (p.Phe1683Val)
Xg.154928638A>GCA414913709F8c.5152T>C (p.Phe1718Leu)
c.5047T>C (p.Phe1683Leu)
Xg.154928638A>TCA414913707F8c.5152T>A (p.Phe1718Ile)
c.5047T>A (p.Phe1683Ile)
Xg.154928638_154928639insTAGTGTACA2695237893F8c.5152_5153insACACTAT (p.Phe1718TyrfsTer17)
c.5047_5048insACACTAT (p.Phe1683TyrfsTer17)
Xg.154928638_154928645dupCA2695237892F8c.5145_5152dup (p.Phe1718TyrfsTer16)
c.5040_5047dup (p.Phe1683TyrfsTer16)
Xg.154928639A>CCA414913713F8c.5151T>G (p.Tyr1717Ter)
c.5046T>G (p.Tyr1682Ter)
Xg.154928639A>GCA519718365F8c.5151T>C (p.Tyr1717=)
c.5046T>C (p.Tyr1682=)
Xg.154928639A>TCA414913715F8c.5151T>A (p.Tyr1717Ter)
c.5046T>A (p.Tyr1682Ter)
Xg.154928640_154928641delCA1139771367F8c.5150_5151del (p.Tyr1717PhefsTer15)
c.5045_5046del (p.Tyr1682PhefsTer15)
ClinVar dbSNP
Xg.154928640delCA2695237895F8c.5150del (p.Tyr1717PhefsTer14)
c.5045del (p.Tyr1682PhefsTer14)
Xg.154928640T>ACA414913717F8c.5150A>T (p.Tyr1717Phe)
c.5045A>T (p.Tyr1682Phe)
Xg.154928640T>CCA414913719F8c.5150A>G (p.Tyr1717Cys)
c.5045A>G (p.Tyr1682Cys)
Xg.154928640T>GCA414913721F8c.5150A>C (p.Tyr1717Ser)
c.5045A>C (p.Tyr1682Ser)
Xg.154928641A=CA2466835749F8c.5149T= (p.Tyr1717=)
c.5044T= (p.Tyr1682=)
Xg.154928641A>CCA414913723F8c.5149T>G (p.Tyr1717Asp)
c.5044T>G (p.Tyr1682Asp)
Xg.154928641A>GCA414913724F8c.5149T>C (p.Tyr1717His)
c.5044T>C (p.Tyr1682His)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154928641A>TCA414913725F8c.5149T>A (p.Tyr1717Asn)
c.5044T>A (p.Tyr1682Asn)
Xg.154928642G>ACA519718366F8c.5148C>T (p.His1716=)
c.5043C>T (p.His1681=)
Xg.154928642G>CCA414913726F8c.5148C>G (p.His1716Gln)
c.5043C>G (p.His1681Gln)
Xg.154928642G>TCA414913727F8c.5148C>A (p.His1716Gln)
c.5043C>A (p.His1681Gln)
Xg.154928643delCA2695237897F8c.5147del (p.His1716ProfsTer15)
c.5042del (p.His1681ProfsTer15)
Xg.154928643T>ACA414913730F8c.5147A>T (p.His1716Leu)
c.5042A>T (p.His1681Leu)
Xg.154928643T>CCA414913733F8c.5147A>G (p.His1716Arg)
c.5042A>G (p.His1681Arg)
Xg.154928643T>GCA414913735F8c.5147A>C (p.His1716Pro)
c.5042A>C (p.His1681Pro)
Xg.154928644G>ACA414913740F8c.5146C>T (p.His1716Tyr)
c.5041C>T (p.His1681Tyr)
dbSNP
Xg.154928644G>CCA414913742F8c.5146C>G (p.His1716Asp)
c.5041C>G (p.His1681Asp)
Xg.154928644G=CA2466835750F8c.5146C= (p.His1716=)
c.5041C= (p.His1681=)
Xg.154928644G>TCA414913739F8c.5146C>A (p.His1716Asn)
c.5041C>A (p.His1681Asn)
ClinVar dbSNP
Xg.154928646_154928648delCA2695237898F8c.5144_5146del (p.Arg1715del)
c.5039_5041del (p.Arg1680del)
Xg.154928645T>ACA519718367F8c.5145A>T (p.Arg1715=)
c.5040A>T (p.Arg1680=)
dbSNP
Xg.154928645T>CCA519718368F8c.5145A>G (p.Arg1715=)
c.5040A>G (p.Arg1680=)
Xg.154928645T>GCA519718369F8c.5145A>C (p.Arg1715=)
c.5040A>C (p.Arg1680=)
dbSNP gnomAD v4
Xg.154928645T=CA2466835751F8c.5145A= (p.Arg1715=)
c.5040A= (p.Arg1680=)
Xg.154928646C>ACA414913745F8c.5144G>T (p.Arg1715Leu)
c.5039G>T (p.Arg1680Leu)
Xg.154928646C=CA2466835752F8c.5144G= (p.Arg1715=)
c.5039G= (p.Arg1680=)
Xg.154928646C>GCA414913748F8c.5144G>C (p.Arg1715Pro)
c.5039G>C (p.Arg1680Pro)
Xg.154928646C>TCA10568033F8c.5144G>A (p.Arg1715Gln)
c.5039G>A (p.Arg1680Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154928647G>ACA255155F8c.5143C>T (p.Arg1715Ter)
c.5038C>T (p.Arg1680Ter)
ClinVar dbSNP COSMIC COSMIC
Xg.154928647G>CCA255157F8c.5143C>G (p.Arg1715Gly)
c.5038C>G (p.Arg1680Gly)
ClinVar dbSNP
Xg.154928647G=CA2466835753F8c.5143C= (p.Arg1715=)
c.5038C= (p.Arg1680=)
Xg.154928647G>TCA337327008F8c.5143C>A (p.Arg1715=)
c.5038C>A (p.Arg1680=)
ClinVar dbSNP
Xg.154928649_154928650delCA2695168808F8c.5142_5143del (p.Arg1715ThrfsTer17)
c.5037_5038del (p.Arg1680ThrfsTer17)
gnomAD v4
Xg.154928648T>ACA519718370F8c.5142A>T (p.Thr1714=)
c.5037A>T (p.Thr1679=)
Xg.154928648T>CCA519718371F8c.5142A>G (p.Thr1714=)
c.5037A>G (p.Thr1679=)
dbSNP gnomAD v2 gnomAD v4
Xg.154928648T>GCA519718372F8c.5142A>C (p.Thr1714=)
c.5037A>C (p.Thr1679=)
Xg.154928648T=CA2466835754F8c.5142A= (p.Thr1714=)
c.5037A= (p.Thr1679=)
Xg.154928649G>ACA414913753F8c.5141C>T (p.Thr1714Ile)
c.5036C>T (p.Thr1679Ile)
Xg.154928649G>CCA414913754F8c.5141C>G (p.Thr1714Arg)
c.5036C>G (p.Thr1679Arg)
Xg.154928649G>TCA414913756F8c.5141C>A (p.Thr1714Lys)
c.5036C>A (p.Thr1679Lys)
Xg.154928650T>ACA414913759F8c.5140A>T (p.Thr1714Ser)
c.5035A>T (p.Thr1679Ser)
Xg.154928650T>CCA414913761F8c.5140A>G (p.Thr1714Ala)
c.5035A>G (p.Thr1679Ala)
Xg.154928650T>GCA10568034F8c.5140A>C (p.Thr1714Pro)
c.5035A>C (p.Thr1679Pro)
dbSNP ExAC gnomAD v2
Xg.154928650T=CA2466835755F8c.5140A= (p.Thr1714=)
c.5035A= (p.Thr1679=)
Xg.154928653delCA2695237906F8c.5140del (p.Thr1714HisfsTer17)
c.5035del (p.Thr1679HisfsTer17)
Xg.154928654_154928658delCA2695237904F8c.5136_5140del (p.Lys1712AsnfsTer19)
c.5031_5035del (p.Lys1677AsnfsTer19)
Xg.154928651T>ACA414913764F8c.5139A>T (p.Lys1713Asn)
c.5034A>T (p.Lys1678Asn)
Xg.154928651T>CCA519718373F8c.5139A>G (p.Lys1713=)
c.5034A>G (p.Lys1678=)
Xg.154928651T>GCA414913766F8c.5139A>C (p.Lys1713Asn)
c.5034A>C (p.Lys1678Asn)
Xg.154928652T>ACA414913769F8c.5138A>T (p.Lys1713Ile)
c.5033A>T (p.Lys1678Ile)
Xg.154928652T>CCA414913773F8c.5138A>G (p.Lys1713Arg)
c.5033A>G (p.Lys1678Arg)
Xg.154928652T>GCA414913771F8c.5138A>C (p.Lys1713Thr)
c.5033A>C (p.Lys1678Thr)
Xg.154928653T>ACA414913779F8c.5137A>T (p.Lys1713Ter)
c.5032A>T (p.Lys1678Ter)
Xg.154928653T>CCA414913781F8c.5137A>G (p.Lys1713Glu)
c.5032A>G (p.Lys1678Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154928653T>GCA414913783F8c.5137A>C (p.Lys1713Gln)
c.5032A>C (p.Lys1678Gln)
Xg.154928653T=CA2466835756F8c.5137A= (p.Lys1713=)
c.5032A= (p.Lys1678=)
Xg.154928654C>ACA414913785F8c.5136G>T (p.Lys1712Asn)
c.5031G>T (p.Lys1677Asn)
dbSNP COSMIC COSMIC
Xg.154928654C=CA2466835757F8c.5136G= (p.Lys1712=)
c.5031G= (p.Lys1677=)
Xg.154928654C>GCA414913786F8c.5136G>C (p.Lys1712Asn)
c.5031G>C (p.Lys1677Asn)
ClinVar dbSNP gnomAD v4
Xg.154928654C>TCA10568035F8c.5136G>A (p.Lys1712=)
c.5031G>A (p.Lys1677=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154928655T>ACA414913789F8c.5135A>T (p.Lys1712Met)
c.5030A>T (p.Lys1677Met)
Xg.154928655T>CCA414913791F8c.5135A>G (p.Lys1712Arg)
c.5030A>G (p.Lys1677Arg)
gnomAD v4
Xg.154928655T>GCA414913793F8c.5135A>C (p.Lys1712Thr)
c.5030A>C (p.Lys1677Thr)
Xg.154928656T>ACA414913797F8c.5134A>T (p.Lys1712Ter)
c.5029A>T (p.Lys1677Ter)
Xg.154928656T>CCA414913799F8c.5134A>G (p.Lys1712Glu)
c.5029A>G (p.Lys1677Glu)
Xg.154928656T>GCA414913795F8c.5134A>C (p.Lys1712Gln)
c.5029A>C (p.Lys1677Gln)
Xg.154928657T>ACA414913801F8c.5133A>T (p.Gln1711His)
c.5028A>T (p.Gln1676His)
Xg.154928657T>CCA519718374F8c.5133A>G (p.Gln1711=)
c.5028A>G (p.Gln1676=)
Xg.154928657T>GCA414913802F8c.5133A>C (p.Gln1711His)
c.5028A>C (p.Gln1676His)
Xg.154928658T>ACA414913804F8c.5132A>T (p.Gln1711Leu)
c.5027A>T (p.Gln1676Leu)
Xg.154928658T>CCA414913806F8c.5132A>G (p.Gln1711Arg)
c.5027A>G (p.Gln1676Arg)
Xg.154928658T>GCA414913807F8c.5132A>C (p.Gln1711Pro)
c.5027A>C (p.Gln1676Pro)
ClinVar
Xg.154928659G>ACA414913813F8c.5131C>T (p.Gln1711Ter)
c.5026C>T (p.Gln1676Ter)
Xg.154928659G>CCA414913810F8c.5131C>G (p.Gln1711Glu)
c.5026C>G (p.Gln1676Glu)
COSMIC COSMIC
Xg.154928659G=CA2466835758F8c.5131C= (p.Gln1711=)
c.5026C= (p.Gln1676=)
Xg.154928659G>TCA414913812F8c.5131C>A (p.Gln1711Lys)
c.5026C>A (p.Gln1676Lys)
dbSNP gnomAD v4
Xg.154928660A>CCA414913815F8c.5130T>G (p.Phe1710Leu)
c.5025T>G (p.Phe1675Leu)
Xg.154928660A>GCA519718375F8c.5130T>C (p.Phe1710=)
c.5025T>C (p.Phe1675=)
Xg.154928660A>TCA414913816F8c.5130T>A (p.Phe1710Leu)
c.5025T>A (p.Phe1675Leu)
dbSNP gnomAD v4
Xg.154928662delCA2695237912F8c.5130del (p.Gln1711LysfsTer20)
c.5025del (p.Gln1676LysfsTer20)
Xg.154928661A>CCA414913818F8c.5129T>G (p.Phe1710Cys)
c.5024T>G (p.Phe1675Cys)
Xg.154928661A>GCA414913819F8c.5129T>C (p.Phe1710Ser)
c.5024T>C (p.Phe1675Ser)
Xg.154928661A>TCA414913821F8c.5129T>A (p.Phe1710Tyr)
c.5024T>A (p.Phe1675Tyr)
Xg.154928662A>CCA414913823F8c.5128T>G (p.Phe1710Val)
c.5023T>G (p.Phe1675Val)
Xg.154928662A>GCA414913827F8c.5128T>C (p.Phe1710Leu)
c.5023T>C (p.Phe1675Leu)
Xg.154928662A>TCA414913825F8c.5128T>A (p.Phe1710Ile)
c.5023T>A (p.Phe1675Ile)
Xg.154928663G>ACA519718376F8c.5127C>T (p.Ser1709=)
c.5022C>T (p.Ser1674=)
gnomAD v4
Xg.154928663G>CCA414913829F8c.5127C>G (p.Ser1709Arg)
c.5022C>G (p.Ser1674Arg)
dbSNP
Xg.154928663G>TCA414913831F8c.5127C>A (p.Ser1709Arg)
c.5022C>A (p.Ser1674Arg)
Xg.154928664C>ACA414913833F8c.5126G>T (p.Ser1709Ile)
c.5021G>T (p.Ser1674Ile)
Xg.154928664C=CA2466835759F8c.5126G= (p.Ser1709=)
c.5021G= (p.Ser1674=)
Xg.154928664C>GCA414913835F8c.5126G>C (p.Ser1709Thr)
c.5021G>C (p.Ser1674Thr)
Xg.154928664C>TCA414913836F8c.5126G>A (p.Ser1709Asn)
c.5021G>A (p.Ser1674Asn)
dbSNP
Xg.154928665delCA2695237914F8c.5125del (p.Ser1709AlafsTer22)
c.5020del (p.Ser1674AlafsTer22)
Xg.154928665T>ACA414913838F8c.5125A>T (p.Ser1709Cys)
c.5020A>T (p.Ser1674Cys)
Xg.154928665T>CCA414913839F8c.5125A>G (p.Ser1709Gly)
c.5020A>G (p.Ser1674Gly)
Xg.154928665T>GCA414913840F8c.5125A>C (p.Ser1709Arg)
c.5020A>C (p.Ser1674Arg)
Xg.154928666G>ACA519718377F8c.5124C>T (p.Arg1708=)
c.5019C>T (p.Arg1673=)
Xg.154928666G>CCA519718378F8c.5124C>G (p.Arg1708=)
c.5019C>G (p.Arg1673=)
Xg.154928666G>TCA519718379F8c.5124C>A (p.Arg1708=)
c.5019C>A (p.Arg1673=)
Xg.154928667C>ACA414913841F8c.5123G>T (p.Arg1708Leu)
c.5018G>T (p.Arg1673Leu)
Xg.154928667C=CA2466835760F8c.5123G= (p.Arg1708=)
c.5018G= (p.Arg1673=)
Xg.154928667C>GCA414913842F8c.5123G>C (p.Arg1708Pro)
c.5018G>C (p.Arg1673Pro)
Xg.154928667C>TCA255154F8c.5123G>A (p.Arg1708His)
c.5018G>A (p.Arg1673His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154928667_154928668delinsCGCA2466835761F8c.5122_5123delinsCG (p.Arg1708=)
c.5017_5018delinsCG (p.Arg1673=)
Xg.154928668G>ACA120919F8c.5122C>T (p.Arg1708Cys)
c.5017C>T (p.Arg1673Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154928668G>CCA414913845F8c.5122C>G (p.Arg1708Gly)
c.5017C>G (p.Arg1673Gly)
Xg.154928668G=CA2466835762F8c.5122C= (p.Arg1708=)
c.5017C= (p.Arg1673=)
Xg.154928668G>TCA414913844F8c.5122C>A (p.Arg1708Ser)
c.5017C>A (p.Arg1673Ser)
dbSNP
Xg.154928672dupCA2824302241F8c.5122dup (p.Arg1708ProfsTer25)
c.5017dup (p.Arg1673ProfsTer25)
Xg.154928672delCA873340216F8c.5122del (p.Arg1708AlafsTer23)
c.5017del (p.Arg1673AlafsTer23)
dbSNP
Xg.154928669G>ACA519718380F8c.5121C>T (p.Pro1707=)
c.5016C>T (p.Pro1672=)
Xg.154928669G>CCA519718381F8c.5121C>G (p.Pro1707=)
c.5016C>G (p.Pro1672=)
Xg.154928669G>TCA519718382F8c.5121C>A (p.Pro1707=)
c.5016C>A (p.Pro1672=)
gnomAD v4
Xg.154928670G>ACA10568036F8c.5120C>T (p.Pro1707Leu)
c.5015C>T (p.Pro1672Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154928670G>CCA414913848F8c.5120C>G (p.Pro1707Arg)
c.5015C>G (p.Pro1672Arg)
Xg.154928670G=CA2466835763F8c.5120C= (p.Pro1707=)
c.5015C= (p.Pro1672=)
Xg.154928670G>TCA414913847F8c.5120C>A (p.Pro1707His)
c.5015C>A (p.Pro1672His)
Xg.154928671G>ACA414913850F8c.5119C>T (p.Pro1707Ser)
c.5014C>T (p.Pro1672Ser)
Xg.154928671G>CCA414913853F8c.5119C>G (p.Pro1707Ala)
c.5014C>G (p.Pro1672Ala)
Xg.154928671G>TCA414913851F8c.5119C>A (p.Pro1707Thr)
c.5014C>A (p.Pro1672Thr)
Xg.154928672G>ACA519718383F8c.5118C>T (p.Ser1706=)
c.5013C>T (p.Ser1671=)
gnomAD v4
Xg.154928672G>CCA414913854F8c.5118C>G (p.Ser1706Arg)
c.5013C>G (p.Ser1671Arg)
Xg.154928672G>TCA414913856F8c.5118C>A (p.Ser1706Arg)
c.5013C>A (p.Ser1671Arg)
gnomAD v4
Xg.154928673C>ACA10568037F8c.5117G>T (p.Ser1706Ile)
c.5012G>T (p.Ser1671Ile)
dbSNP ExAC
Xg.154928673C=CA2466835764F8c.5117G= (p.Ser1706=)
c.5012G= (p.Ser1671=)
Xg.154928673C>GCA414913858F8c.5117G>C (p.Ser1706Thr)
c.5012G>C (p.Ser1671Thr)
Xg.154928673C>TCA414913860F8c.5117G>A (p.Ser1706Asn)
c.5012G>A (p.Ser1671Asn)
gnomAD v4
Xg.154928674T>ACA414913862F8c.5116A>T (p.Ser1706Cys)
c.5011A>T (p.Ser1671Cys)
Xg.154928674T>CCA414913864F8c.5116A>G (p.Ser1706Gly)
c.5011A>G (p.Ser1671Gly)
Xg.154928674T>GCA414913865F8c.5116A>C (p.Ser1706Arg)
c.5011A>C (p.Ser1671Arg)
Xg.154928675C>ACA414913867F8c.5115G>T (p.Gln1705His)
c.5010G>T (p.Gln1670His)
Xg.154928675C>GCA414913869F8c.5115G>C (p.Gln1705His)
c.5010G>C (p.Gln1670His)
Xg.154928675C>TCA519718384F8c.5115G>A (p.Gln1705=)
c.5010G>A (p.Gln1670=)
Xg.154928676delCA2695237918F8c.5114del (p.Gln1705ArgfsTer26)
c.5009del (p.Gln1670ArgfsTer26)
Xg.154928676T>ACA414913874F8c.5114A>T (p.Gln1705Leu)
c.5009A>T (p.Gln1670Leu)
Xg.154928676T>CCA414913872F8c.5114A>G (p.Gln1705Arg)
c.5009A>G (p.Gln1670Arg)
Xg.154928676T>GCA414913871F8c.5114A>C (p.Gln1705Pro)
c.5009A>C (p.Gln1670Pro)
Xg.154928677G>ACA255020F8c.5113C>T (p.Gln1705Ter)
c.5008C>T (p.Gln1670Ter)
ClinVar dbSNP
Xg.154928677G>CCA414913877F8c.5113C>G (p.Gln1705Glu)
c.5008C>G (p.Gln1670Glu)
dbSNP gnomAD v2 gnomAD v4
Xg.154928677G=CA2466835765F8c.5113C= (p.Gln1705=)
c.5008C= (p.Gln1670=)
Xg.154928677G>TCA414913878F8c.5113C>A (p.Gln1705Lys)
c.5008C>A (p.Gln1670Lys)
Xg.154928677_154928678dupCA2695237921F8c.5112_5113dup (p.Gln1705LeufsTer27)
c.5007_5008dup (p.Gln1670LeufsTer27)
Xg.154928678A=CA2466835766F8c.5112T= (p.Asn1704=)
c.5007T= (p.Asn1669=)
Xg.154928678A>CCA414913880F8c.5112T>G (p.Asn1704Lys)
c.5007T>G (p.Asn1669Lys)
gnomAD v4
Xg.154928678A>GCA519718385F8c.5112T>C (p.Asn1704=)
c.5007T>C (p.Asn1669=)
Xg.154928678A>TCA414913882F8c.5112T>A (p.Asn1704Lys)
c.5007T>A (p.Asn1669Lys)
Xg.154928679T>ACA414913884F8c.5111A>T (p.Asn1704Ile)
c.5006A>T (p.Asn1669Ile)
Xg.154928679T>CCA414913886F8c.5111A>G (p.Asn1704Ser)
c.5006A>G (p.Asn1669Ser)
Xg.154928679T>GCA414913887F8c.5111A>C (p.Asn1704Thr)
c.5006A>C (p.Asn1669Thr)
Xg.154928681_154928682dupCA873340243F8c.5110_5111dup (p.Asn1704LysfsTer28)
c.5005_5006dup (p.Asn1669LysfsTer28)
dbSNP
Xg.154928682delCA2695237923F8c.5111del (p.Asn1704IlefsTer27)
c.5006del (p.Asn1669IlefsTer27)
Xg.154928680T>ACA414913889F8c.5110A>T (p.Asn1704Tyr)
c.5005A>T (p.Asn1669Tyr)
Xg.154928680T>CCA414913891F8c.5110A>G (p.Asn1704Asp)
c.5005A>G (p.Asn1669Asp)
Xg.154928680T>GCA414913893F8c.5110A>C (p.Asn1704His)
c.5005A>C (p.Asn1669His)
Xg.154928681T>ACA414913895F8c.5109A>T (p.Glu1703Asp)
c.5004A>T (p.Glu1668Asp)
Xg.154928681T>CCA519718386F8c.5109A>G (p.Glu1703=)
c.5004A>G (p.Glu1668=)
Xg.154928681T>GCA414913897F8c.5109A>C (p.Glu1703Asp)
c.5004A>C (p.Glu1668Asp)
Xg.154928682T>ACA414913898F8c.5108A>T (p.Glu1703Val)
c.5003A>T (p.Glu1668Val)
Xg.154928682T>CCA414913899F8c.5108A>G (p.Glu1703Gly)
c.5003A>G (p.Glu1668Gly)
COSMIC COSMIC
Xg.154928682T>GCA10568038F8c.5108A>C (p.Glu1703Ala)
c.5003A>C (p.Glu1668Ala)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.154928682T=CA2466835767F8c.5108A= (p.Glu1703=)
c.5003A= (p.Glu1668=)
Xg.154928683C>ACA414913902F8c.5107G>T (p.Glu1703Ter)
c.5002G>T (p.Glu1668Ter)
Xg.154928683C=CA2466835768F8c.5107G= (p.Glu1703=)
c.5002G= (p.Glu1668=)
Xg.154928683C>GCA414913903F8c.5107G>C (p.Glu1703Gln)
c.5002G>C (p.Glu1668Gln)
Xg.154928683C>TCA10568039F8c.5107G>A (p.Glu1703Lys)
c.5002G>A (p.Glu1668Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154928684A>CCA414913905F8c.5106T>G (p.Asp1702Glu)
c.5001T>G (p.Asp1667Glu)
gnomAD v4
Xg.154928684A>GCA519718387F8c.5106T>C (p.Asp1702=)
c.5001T>C (p.Asp1667=)
Xg.154928684A>TCA414913907F8c.5106T>A (p.Asp1702Glu)
c.5001T>A (p.Asp1667Glu)
Xg.154928685T>ACA414913909F8c.5105A>T (p.Asp1702Val)
c.5000A>T (p.Asp1667Val)
Xg.154928685T>CCA414913911F8c.5105A>G (p.Asp1702Gly)
c.5000A>G (p.Asp1667Gly)
Xg.154928685T>GCA414913913F8c.5105A>C (p.Asp1702Ala)
c.5000A>C (p.Asp1667Ala)
Xg.154928686C>ACA414913919F8c.5104G>T (p.Asp1702Tyr)
c.4999G>T (p.Asp1667Tyr)
Xg.154928686C>GCA414913915F8c.5104G>C (p.Asp1702His)
c.4999G>C (p.Asp1667His)
Xg.154928686C>TCA414913917F8c.5104G>A (p.Asp1702Asn)
c.4999G>A (p.Asp1667Asn)
gnomAD v4 COSMIC COSMIC
Xg.154928687C>ACA414913921F8c.5103G>T (p.Glu1701Asp)
c.4998G>T (p.Glu1666Asp)
Xg.154928687C>GCA414913923F8c.5103G>C (p.Glu1701Asp)
c.4998G>C (p.Glu1666Asp)
Xg.154928687C>TCA519718388F8c.5103G>A (p.Glu1701=)
c.4998G>A (p.Glu1666=)
Xg.154928688T>ACA414913926F8c.5102A>T (p.Glu1701Val)
c.4997A>T (p.Glu1666Val)
Xg.154928688T>CCA414913928F8c.5102A>G (p.Glu1701Gly)
c.4997A>G (p.Glu1666Gly)
Xg.154928688T>GCA414913929F8c.5102A>C (p.Glu1701Ala)
c.4997A>C (p.Glu1666Ala)
Xg.154928689C>ACA414913931F8c.5101G>T (p.Glu1701Ter)
c.4996G>T (p.Glu1666Ter)
dbSNP
Xg.154928689C=CA2466835769F8c.5101G= (p.Glu1701=)
c.4996G= (p.Glu1666=)
Xg.154928689C>GCA414913933F8c.5101G>C (p.Glu1701Gln)
c.4996G>C (p.Glu1666Gln)
Xg.154928689C>TCA414913935F8c.5101G>A (p.Glu1701Lys)
c.4996G>A (p.Glu1666Lys)
ClinVar dbSNP gnomAD v4
Xg.154928690A>CCA414913937F8c.5100T>G (p.Asp1700Glu)
c.4995T>G (p.Asp1665Glu)
Xg.154928690A>GCA519718389F8c.5100T>C (p.Asp1700=)
c.4995T>C (p.Asp1665=)
Xg.154928690A>TCA414913938F8c.5100T>A (p.Asp1700Glu)
c.4995T>A (p.Asp1665Glu)
Xg.154928691T>ACA414913944F8c.5099A>T (p.Asp1700Val)
c.4994A>T (p.Asp1665Val)
Xg.154928691T>CCA414913942F8c.5099A>G (p.Asp1700Gly)
c.4994A>G (p.Asp1665Gly)
gnomAD v4
Xg.154928691T>GCA414913940F8c.5099A>C (p.Asp1700Ala)
c.4994A>C (p.Asp1665Ala)
Xg.154928692C>ACA414913947F8c.5098G>T (p.Asp1700Tyr)
c.4993G>T (p.Asp1665Tyr)
Xg.154928692C>GCA414913949F8c.5098G>C (p.Asp1700His)
c.4993G>C (p.Asp1665His)
Xg.154928692C>TCA414913951F8c.5098G>A (p.Asp1700Asn)
c.4993G>A (p.Asp1665Asn)
Xg.154928693A=CA2466835770F8c.5097T= (p.Tyr1699=)
c.4992T= (p.Tyr1664=)
Xg.154928693A>CCA414913953F8c.5097T>G (p.Tyr1699Ter)
c.4992T>G (p.Tyr1664Ter)
Xg.154928693A>GCA519718390F8c.5097T>C (p.Tyr1699=)
c.4992T>C (p.Tyr1664=)
dbSNP gnomAD v3 gnomAD v4
Xg.154928693A>TCA414913954F8c.5097T>A (p.Tyr1699Ter)
c.4992T>A (p.Tyr1664Ter)
Xg.154928694T>ACA255022F8c.5096A>T (p.Tyr1699Phe)
c.4991A>T (p.Tyr1664Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154928694T>CCA414913958F8c.5096A>G (p.Tyr1699Cys)
c.4991A>G (p.Tyr1664Cys)
dbSNP
Xg.154928694T>GCA414913959F8c.5096A>C (p.Tyr1699Ser)
c.4991A>C (p.Tyr1664Ser)
ClinVar dbSNP
Xg.154928694T=CA2466835771F8c.5096A= (p.Tyr1699=)
c.4991A= (p.Tyr1664=)
Xg.154928695A>CCA414913961F8c.5095T>G (p.Tyr1699Asp)
c.4990T>G (p.Tyr1664Asp)
Xg.154928695A>GCA414913963F8c.5095T>C (p.Tyr1699His)
c.4990T>C (p.Tyr1664His)
Xg.154928695A>TCA414913964F8c.5095T>A (p.Tyr1699Asn)
c.4990T>A (p.Tyr1664Asn)
COSMIC COSMIC
Xg.154928696A>CCA414913967F8c.5094T>G (p.Ile1698Met)
c.4989T>G (p.Ile1663Met)
Xg.154928696A>GCA519718392F8c.5094T>C (p.Ile1698=)
c.4989T>C (p.Ile1663=)
gnomAD v4
Xg.154928696A>TCA519718391F8c.5094T>A (p.Ile1698=)
c.4989T>A (p.Ile1663=)
Xg.154928697A=CA2466835772F8c.5093T= (p.Ile1698=)
c.4988T= (p.Ile1663=)
Xg.154928697A>CCA414913973F8c.5093T>G (p.Ile1698Ser)
c.4988T>G (p.Ile1663Ser)
Xg.154928697A>GCA414913972F8c.5093T>C (p.Ile1698Thr)
c.4988T>C (p.Ile1663Thr)
ClinVar dbSNP gnomAD v4
Xg.154928697A>TCA414913970F8c.5093T>A (p.Ile1698Asn)
c.4988T>A (p.Ile1663Asn)
Xg.154928698T>ACA414913975F8c.5092A>T (p.Ile1698Phe)
c.4987A>T (p.Ile1663Phe)
Xg.154928698T>CCA414913977F8c.5092A>G (p.Ile1698Val)
c.4987A>G (p.Ile1663Val)
Xg.154928698T>GCA414913978F8c.5092A>C (p.Ile1698Leu)
c.4987A>C (p.Ile1663Leu)
Xg.154928699G>ACA519718393F8c.5091C>T (p.Asp1697=)
c.4986C>T (p.Asp1662=)
Xg.154928699G>CCA414913981F8c.5091C>G (p.Asp1697Glu)
c.4986C>G (p.Asp1662Glu)
Xg.154928699G>TCA414913983F8c.5091C>A (p.Asp1697Glu)
c.4986C>A (p.Asp1662Glu)
Xg.154928700T>ACA414913985F8c.5090A>T (p.Asp1697Val)
c.4985A>T (p.Asp1662Val)
Xg.154928700T>CCA10568040F8c.5090A>G (p.Asp1697Gly)
c.4985A>G (p.Asp1662Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154928700T>GCA414913988F8c.5090A>C (p.Asp1697Ala)
c.4985A>C (p.Asp1662Ala)
Xg.154928700T=CA2466835773F8c.5090A= (p.Asp1697=)
c.4985A= (p.Asp1662=)
Xg.154928701C>ACA414913990F8c.5089G>T (p.Asp1697Tyr)
c.4984G>T (p.Asp1662Tyr)
Xg.154928701C=CA2466835774F8c.5089G= (p.Asp1697=)
c.4984G= (p.Asp1662=)
Xg.154928701C>GCA414913992F8c.5089G>C (p.Asp1697His)
c.4984G>C (p.Asp1662His)
Xg.154928701C>TCA414913994F8c.5089G>A (p.Asp1697Asn)
c.4984G>A (p.Asp1662Asn)
dbSNP
Xg.154928702A>CCA414913997F8c.5088T>G (p.Phe1696Leu)
c.4983T>G (p.Phe1661Leu)
gnomAD v4
Xg.154928702A>GCA519718394F8c.5088T>C (p.Phe1696=)
c.4983T>C (p.Phe1661=)
Xg.154928702A>TCA414913998F8c.5088T>A (p.Phe1696Leu)
c.4983T>A (p.Phe1661Leu)
Xg.154928705dupCA2466835775F8c.5088dup (p.Asp1697Ter)
c.4983dup (p.Asp1662Ter)
dbSNP
Xg.154928703A>CCA414914002F8c.5087T>G (p.Phe1696Cys)
c.4982T>G (p.Phe1661Cys)
Xg.154928703A>GCA414914003F8c.5087T>C (p.Phe1696Ser)
c.4982T>C (p.Phe1661Ser)
Xg.154928703A>TCA414914000F8c.5087T>A (p.Phe1696Tyr)
c.4982T>A (p.Phe1661Tyr)
Xg.154928703_154928706delCA2695237929F8c.5084_5087del (p.Asp1695ValfsTer?)
c.4979_4982del (p.Asp1660ValfsTer?)
Xg.154928704A>CCA414914005F8c.5086T>G (p.Phe1696Val)
c.4981T>G (p.Phe1661Val)
Xg.154928704A>GCA414914007F8c.5086T>C (p.Phe1696Leu)
c.4981T>C (p.Phe1661Leu)
Xg.154928704A>TCA414914008F8c.5086T>A (p.Phe1696Ile)
c.4981T>A (p.Phe1661Ile)
Xg.154928705A=CA2466835776F8c.5085T= (p.Asp1695=)
c.4980T= (p.Asp1660=)
Xg.154928705A>CCA414914011F8c.5085T>G (p.Asp1695Glu)
c.4980T>G (p.Asp1660Glu)
Xg.154928705A>GCA519718395F8c.5085T>C (p.Asp1695=)
c.4980T>C (p.Asp1660=)
dbSNP gnomAD v2 gnomAD v4
Xg.154928705A>TCA414914013F8c.5085T>A (p.Asp1695Glu)
c.4980T>A (p.Asp1660Glu)
Xg.154928706T>ACA414914014F8c.5084A>T (p.Asp1695Val)
c.4979A>T (p.Asp1660Val)
Xg.154928706T>CCA414914016F8c.5084A>G (p.Asp1695Gly)
c.4979A>G (p.Asp1660Gly)
Xg.154928706T>GCA414914018F8c.5084A>C (p.Asp1695Ala)
c.4979A>C (p.Asp1660Ala)
Xg.154928707C>ACA414914019F8c.5083G>T (p.Asp1695Tyr)
c.4978G>T (p.Asp1660Tyr)
Xg.154928707C>GCA414914020F8c.5083G>C (p.Asp1695His)
c.4978G>C (p.Asp1660His)
Xg.154928707C>TCA414914021F8c.5083G>A (p.Asp1695Asn)
c.4978G>A (p.Asp1660Asn)
Xg.154928708T>ACA414914023F8c.5082A>T (p.Glu1694Asp)
c.4977A>T (p.Glu1659Asp)
Xg.154928708T>CCA519718396F8c.5082A>G (p.Glu1694=)
c.4977A>G (p.Glu1659=)
Xg.154928708T>GCA414914022F8c.5082A>C (p.Glu1694Asp)
c.4977A>C (p.Glu1659Asp)
Xg.154928709T>ACA414914024F8c.5081A>T (p.Glu1694Val)
c.4976A>T (p.Glu1659Val)
Xg.154928709T>CCA414914025F8c.5081A>G (p.Glu1694Gly)
c.4976A>G (p.Glu1659Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154928709T>GCA414914026F8c.5081A>C (p.Glu1694Ala)
c.4976A>C (p.Glu1659Ala)
Xg.154928709T=CA2466835777F8c.5081A= (p.Glu1694=)
c.4976A= (p.Glu1659=)
Xg.154928710C>ACA414914029F8c.5080G>T (p.Glu1694Ter)
c.4975G>T (p.Glu1659Ter)
dbSNP
Xg.154928710C=CA2466835778F8c.5080G= (p.Glu1694=)
c.4975G= (p.Glu1659=)
Xg.154928710C>GCA337327071F8c.5080G>C (p.Glu1694Gln)
c.4975G>C (p.Glu1659Gln)
dbSNP gnomAD v3 gnomAD v4
Xg.154928710C>TCA414914030F8c.5080G>A (p.Glu1694Lys)
c.4975G>A (p.Glu1659Lys)
Xg.154928711C>ACA414914032F8c.5079G>T (p.Lys1693Asn)
c.4974G>T (p.Lys1658Asn)
Xg.154928711C>GCA414914034F8c.5079G>C (p.Lys1693Asn)
c.4974G>C (p.Lys1658Asn)
Xg.154928711C>TCA519718397F8c.5079G>A (p.Lys1693=)
c.4974G>A (p.Lys1658=)
Xg.154928712T>ACA414914036F8c.5078A>T (p.Lys1693Met)
c.4973A>T (p.Lys1658Met)
Xg.154928712T>CCA414914038F8c.5078A>G (p.Lys1693Arg)
c.4973A>G (p.Lys1658Arg)
Xg.154928712T>GCA414914040F8c.5078A>C (p.Lys1693Thr)
c.4973A>C (p.Lys1658Thr)
Xg.154928713delCA2695237932F8c.5078del (p.Lys1693ArgfsTer?)
c.4973del (p.Lys1658ArgfsTer?)
Xg.154928713T>ACA414914046F8c.5077A>T (p.Lys1693Ter)
c.4972A>T (p.Lys1658Ter)
Xg.154928713T>CCA414914042F8c.5077A>G (p.Lys1693Glu)
c.4972A>G (p.Lys1658Glu)
Xg.154928713T>GCA414914044F8c.5077A>C (p.Lys1693Gln)
c.4972A>C (p.Lys1658Gln)
Xg.154928714C>ACA414914048F8c.5076G>T (p.Lys1692Asn)
c.4971G>T (p.Lys1657Asn)
Xg.154928714C=CA2466835779F8c.5076G= (p.Lys1692=)
c.4971G= (p.Lys1657=)
Xg.154928714C>GCA414914050F8c.5076G>C (p.Lys1692Asn)
c.4971G>C (p.Lys1657Asn)
Xg.154928714C>TCA519718398F8c.5076G>A (p.Lys1692=)
c.4971G>A (p.Lys1657=)
dbSNP
Xg.154928714_154928719delinsCTTCATCA2466835780F8c.5071_5076delinsATGAAG (p.Met1691=)
c.4966_4971delinsATGAAG (p.Met1656=)
Xg.154928715T>ACA414914052F8c.5075A>T (p.Lys1692Met)
c.4970A>T (p.Lys1657Met)
Xg.154928715T>CCA337327078F8c.5075A>G (p.Lys1692Arg)
c.4970A>G (p.Lys1657Arg)
dbSNP
Xg.154928715T>GCA414914053F8c.5075A>C (p.Lys1692Thr)
c.4970A>C (p.Lys1657Thr)
Xg.154928715T=CA2466835782F8c.5075A= (p.Lys1692=)
c.4970A= (p.Lys1657=)
Xg.154928719_154928723delCA2466835781F8c.5071_5075del (p.Met1691GlufsTer5)
c.4966_4970del (p.Met1656GlufsTer5)
dbSNP
Xg.154928716T>ACA414914057F8c.5074A>T (p.Lys1692Ter)
c.4969A>T (p.Lys1657Ter)
Xg.154928716T>CCA414914059F8c.5074A>G (p.Lys1692Glu)
c.4969A>G (p.Lys1657Glu)
Xg.154928716T>GCA414914061F8c.5074A>C (p.Lys1692Gln)
c.4969A>C (p.Lys1657Gln)
Xg.154928717C>ACA414914063F8c.5073G>T (p.Met1691Ile)
c.4968G>T (p.Met1656Ile)
gnomAD v4
Xg.154928717C>GCA414914065F8c.5073G>C (p.Met1691Ile)
c.4968G>C (p.Met1656Ile)
Xg.154928717C>TCA414914067F8c.5073G>A (p.Met1691Ile)
c.4968G>A (p.Met1656Ile)
Xg.154928718A>CCA414914069F8c.5072T>G (p.Met1691Arg)
c.4967T>G (p.Met1656Arg)
Xg.154928718A>GCA414914070F8c.5072T>C (p.Met1691Thr)
c.4967T>C (p.Met1656Thr)
Xg.154928718A>TCA414914071F8c.5072T>A (p.Met1691Lys)
c.4967T>A (p.Met1656Lys)
Xg.154928719T>ACA414914072F8c.5071A>T (p.Met1691Leu)
c.4966A>T (p.Met1656Leu)
Xg.154928719T>CCA414914073F8c.5071A>G (p.Met1691Val)
c.4966A>G (p.Met1656Val)
Xg.154928719T>GCA414914074F8c.5071A>C (p.Met1691Leu)
c.4966A>C (p.Met1656Leu)
Xg.154928720T>ACA414914076F8c.5070A>T (p.Glu1690Asp)
c.4965A>T (p.Glu1655Asp)
Xg.154928720T>CCA519718399F8c.5070A>G (p.Glu1690=)
c.4965A>G (p.Glu1655=)
Xg.154928720T>GCA414914075F8c.5070A>C (p.Glu1690Asp)
c.4965A>C (p.Glu1655Asp)
Xg.154928720_154928731delinsCACA2695237933F8c.5059_5070delinsTG (p.Ile1687Ter)
c.4954_4965delinsTG (p.Ile1652Ter)
Xg.154928721T>ACA414914078F8c.5069A>T (p.Glu1690Val)
c.4964A>T (p.Glu1655Val)
Xg.154928721T>CCA10568041F8c.5069A>G (p.Glu1690Gly)
c.4964A>G (p.Glu1655Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154928721T>GCA414914079F8c.5069A>C (p.Glu1690Ala)
c.4964A>C (p.Glu1655Ala)
Xg.154928721T=CA2466835783F8c.5069A= (p.Glu1690=)
c.4964A= (p.Glu1655=)
Xg.154928722C>ACA414914082F8c.5068G>T (p.Glu1690Ter)
c.4963G>T (p.Glu1655Ter)
COSMIC COSMIC
Xg.154928722C=CA2466835784F8c.5068G= (p.Glu1690=)
c.4963G= (p.Glu1655=)
Xg.154928722C>GCA414914084F8c.5068G>C (p.Glu1690Gln)
c.4963G>C (p.Glu1655Gln)
Xg.154928722C>TCA414914086F8c.5068G>A (p.Glu1690Lys)
c.4963G>A (p.Glu1655Lys)
dbSNP gnomAD v2 gnomAD v4
Xg.154928723A>CCA519718400F8c.5067T>G (p.Val1689=)
c.4962T>G (p.Val1654=)
Xg.154928723A>GCA519718401F8c.5067T>C (p.Val1689=)
c.4962T>C (p.Val1654=)
Xg.154928723A>TCA519718402F8c.5067T>A (p.Val1689=)
c.4962T>A (p.Val1654=)

Number of alleles fetched