Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154928593A>CCA414913508F8c.5197T>G (p.Ser1733Ala)
c.5092T>G (p.Ser1698Ala)
Xg.154928593A>GCA414913510F8c.5197T>C (p.Ser1733Pro)
c.5092T>C (p.Ser1698Pro)
Xg.154928593A>TCA414913511F8c.5197T>A (p.Ser1733Thr)
c.5092T>A (p.Ser1698Thr)
Xg.154928594G>ACA519718340F8c.5196C>T (p.Ser1732=)
c.5091C>T (p.Ser1697=)
 gnomAD v4
Xg.154928594G>CCA414913513F8c.5196C>G (p.Ser1732Arg)
c.5091C>G (p.Ser1697Arg)
 gnomAD v4
Xg.154928594G>TCA414913514F8c.5196C>A (p.Ser1732Arg)
c.5091C>A (p.Ser1697Arg)
 gnomAD v4
Xg.154928595C>ACA414913518F8c.5195G>T (p.Ser1732Ile)
c.5090G>T (p.Ser1697Ile)
Xg.154928595C=CA2466835738F8c.5195G= (p.Ser1732=)
c.5090G= (p.Ser1697=)
Xg.154928595C>GCA10568030F8c.5195G>C (p.Ser1732Thr)
c.5090G>C (p.Ser1697Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154928595C>TCA414913515F8c.5195G>A (p.Ser1732Asn)
c.5090G>A (p.Ser1697Asn)
 gnomAD v4
Xg.154928596T>ACA414913520F8c.5194A>T (p.Ser1732Cys)
c.5089A>T (p.Ser1697Cys)
Xg.154928596T>CCA414913524F8c.5194A>G (p.Ser1732Gly)
c.5089A>G (p.Ser1697Gly)
Xg.154928596T>GCA414913522F8c.5194A>C (p.Ser1732Arg)
c.5089A>C (p.Ser1697Arg)
Xg.154928597A>CCA414913526F8c.5193T>G (p.Ser1731Arg)
c.5088T>G (p.Ser1696Arg)
Xg.154928597A>GCA519718341F8c.5193T>C (p.Ser1731=)
c.5088T>C (p.Ser1696=)
Xg.154928597A>TCA414913528F8c.5193T>A (p.Ser1731Arg)
c.5088T>A (p.Ser1696Arg)
Xg.154928598C>ACA414913529F8c.5192G>T (p.Ser1731Ile)
c.5087G>T (p.Ser1696Ile)
Xg.154928598C>GCA414913530F8c.5192G>C (p.Ser1731Thr)
c.5087G>C (p.Ser1696Thr)
Xg.154928598C>TCA414913531F8c.5192G>A (p.Ser1731Asn)
c.5087G>A (p.Ser1696Asn)
 COSMIC COSMIC
Xg.154928599T>ACA414913533F8c.5191A>T (p.Ser1731Cys)
c.5086A>T (p.Ser1696Cys)
Xg.154928599T>CCA414913535F8c.5191A>G (p.Ser1731Gly)
c.5086A>G (p.Ser1696Gly)
Xg.154928599T>GCA414913537F8c.5191A>C (p.Ser1731Arg)
c.5086A>C (p.Ser1696Arg)
Xg.154928600C>ACA10568031F8c.5190G>T (p.Met1730Ile)
c.5085G>T (p.Met1695Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154928600C=CA2466835739F8c.5190G= (p.Met1730=)
c.5085G= (p.Met1695=)
Xg.154928600C>GCA414913539F8c.5190G>C (p.Met1730Ile)
c.5085G>C (p.Met1695Ile)
Xg.154928600C>TCA414913540F8c.5190G>A (p.Met1730Ile)
c.5085G>A (p.Met1695Ile)
Xg.154928601A>CCA414913543F8c.5189T>G (p.Met1730Arg)
c.5084T>G (p.Met1695Arg)
Xg.154928601A>GCA414913545F8c.5189T>C (p.Met1730Thr)
c.5084T>C (p.Met1695Thr)
Xg.154928601A>TCA414913544F8c.5189T>A (p.Met1730Lys)
c.5084T>A (p.Met1695Lys)
Xg.154928602T>ACA10568032F8c.5188A>T (p.Met1730Leu)
c.5083A>T (p.Met1695Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154928602T>CCA414913548F8c.5188A>G (p.Met1730Val)
c.5083A>G (p.Met1695Val)
 dbSNP
Xg.154928602T>GCA414913549F8c.5188A>C (p.Met1730Leu)
c.5083A>C (p.Met1695Leu)
Xg.154928602T=CA2466835740F8c.5188A= (p.Met1730=)
c.5083A= (p.Met1695=)
Xg.154928603C>ACA519718342F8c.5187G>T (p.Gly1729=)
c.5082G>T (p.Gly1694=)
Xg.154928603C>GCA519718343F8c.5187G>C (p.Gly1729=)
c.5082G>C (p.Gly1694=)
 gnomAD v4
Xg.154928603C>TCA519718344F8c.5187G>A (p.Gly1729=)
c.5082G>A (p.Gly1694=)
Xg.154928605delCA2695237883F8c.5187del (p.Met1730Ter)
c.5082del (p.Met1695Ter)
Xg.154928604C>ACA414913552F8c.5186G>T (p.Gly1729Val)
c.5081G>T (p.Gly1694Val)
Xg.154928604C=CA2466835741F8c.5186G= (p.Gly1729=)
c.5081G= (p.Gly1694=)
Xg.154928604C>GCA414913554F8c.5186G>C (p.Gly1729Ala)
c.5081G>C (p.Gly1694Ala)
Xg.154928604C>TCA414913556F8c.5186G>A (p.Gly1729Glu)
c.5081G>A (p.Gly1694Glu)
 ClinVar dbSNP
Xg.154928605C>ACA414913558F8c.5185G>T (p.Gly1729Trp)
c.5080G>T (p.Gly1694Trp)
 dbSNP
Xg.154928605C=CA2466835742F8c.5185G= (p.Gly1729=)
c.5080G= (p.Gly1694=)
Xg.154928605C>GCA414913560F8c.5185G>C (p.Gly1729Arg)
c.5080G>C (p.Gly1694Arg)
Xg.154928605C>TCA414913562F8c.5185G>A (p.Gly1729Arg)
c.5080G>A (p.Gly1694Arg)
Xg.154928606A>CCA414913566F8c.5184T>G (p.Tyr1728Ter)
c.5079T>G (p.Tyr1693Ter)
Xg.154928606A>GCA519718345F8c.5184T>C (p.Tyr1728=)
c.5079T>C (p.Tyr1693=)
 gnomAD v4
Xg.154928606A>TCA414913565F8c.5184T>A (p.Tyr1728Ter)
c.5079T>A (p.Tyr1693Ter)
Xg.154928607T>ACA414913568F8c.5183A>T (p.Tyr1728Phe)
c.5078A>T (p.Tyr1693Phe)
Xg.154928607T>CCA255023F8c.5183A>G (p.Tyr1728Cys)
c.5078A>G (p.Tyr1693Cys)
 ClinVar dbSNP
Xg.154928607T>GCA414913571F8c.5183A>C (p.Tyr1728Ser)
c.5078A>C (p.Tyr1693Ser)
Xg.154928607T=CA2466835743F8c.5183A= (p.Tyr1728=)
c.5078A= (p.Tyr1693=)
Xg.154928608A>CCA414913573F8c.5182T>G (p.Tyr1728Asp)
c.5077T>G (p.Tyr1693Asp)
Xg.154928608A>GCA414913575F8c.5182T>C (p.Tyr1728His)
c.5077T>C (p.Tyr1693His)
Xg.154928608A>TCA414913577F8c.5182T>A (p.Tyr1728Asn)
c.5077T>A (p.Tyr1693Asn)
Xg.154928609A>CCA414913579F8c.5181T>G (p.Asp1727Glu)
c.5076T>G (p.Asp1692Glu)
Xg.154928609A>GCA519718346F8c.5181T>C (p.Asp1727=)
c.5076T>C (p.Asp1692=)
Xg.154928609A>TCA414913584F8c.5181T>A (p.Asp1727Glu)
c.5076T>A (p.Asp1692Glu)
Xg.154928610T>ACA414913587F8c.5180A>T (p.Asp1727Val)
c.5075A>T (p.Asp1692Val)
Xg.154928610T>CCA414913592F8c.5180A>G (p.Asp1727Gly)
c.5075A>G (p.Asp1692Gly)
Xg.154928610T>GCA414913593F8c.5180A>C (p.Asp1727Ala)
c.5075A>C (p.Asp1692Ala)
Xg.154928611C>ACA414913598F8c.5179G>T (p.Asp1727Tyr)
c.5074G>T (p.Asp1692Tyr)
Xg.154928611C>GCA414913596F8c.5179G>C (p.Asp1727His)
c.5074G>C (p.Asp1692His)
Xg.154928611C>TCA414913595F8c.5179G>A (p.Asp1727Asn)
c.5074G>A (p.Asp1692Asn)
Xg.154928612C>ACA414913600F8c.5178G>T (p.Trp1726Cys)
c.5073G>T (p.Trp1691Cys)
 dbSNP
Xg.154928612C=CA2466835744F8c.5178G= (p.Trp1726=)
c.5073G= (p.Trp1691=)
Xg.154928612C>GCA414913602F8c.5178G>C (p.Trp1726Cys)
c.5073G>C (p.Trp1691Cys)
Xg.154928612C>TCA414913603F8c.5178G>A (p.Trp1726Ter)
c.5073G>A (p.Trp1691Ter)
Xg.154928613C>ACA414913604F8c.5177G>T (p.Trp1726Leu)
c.5072G>T (p.Trp1691Leu)
Xg.154928613C>GCA414913605F8c.5177G>C (p.Trp1726Ser)
c.5072G>C (p.Trp1691Ser)
Xg.154928613C>TCA414913606F8c.5177G>A (p.Trp1726Ter)
c.5072G>A (p.Trp1691Ter)
Xg.154928614A>CCA414913608F8c.5176T>G (p.Trp1726Gly)
c.5071T>G (p.Trp1691Gly)
Xg.154928614A>GCA414913610F8c.5176T>C (p.Trp1726Arg)
c.5071T>C (p.Trp1691Arg)
Xg.154928614A>TCA414913615F8c.5176T>A (p.Trp1726Arg)
c.5071T>A (p.Trp1691Arg)
Xg.154928615G>ACA519718349F8c.5175C>T (p.Leu1725=)
c.5070C>T (p.Leu1690=)
Xg.154928615G>CCA519718348F8c.5175C>G (p.Leu1725=)
c.5070C>G (p.Leu1690=)
Xg.154928615G>TCA519718347F8c.5175C>A (p.Leu1725=)
c.5070C>A (p.Leu1690=)
 gnomAD v4
Xg.154928616A>CCA414913618F8c.5174T>G (p.Leu1725Arg)
c.5069T>G (p.Leu1690Arg)
Xg.154928616A>GCA414913620F8c.5174T>C (p.Leu1725Pro)
c.5069T>C (p.Leu1690Pro)
Xg.154928616A>TCA414913621F8c.5174T>A (p.Leu1725His)
c.5069T>A (p.Leu1690His)
Xg.154928617G>ACA414913622F8c.5173C>T (p.Leu1725Phe)
c.5068C>T (p.Leu1690Phe)
 dbSNP
Xg.154928617G>CCA414913624F8c.5173C>G (p.Leu1725Val)
c.5068C>G (p.Leu1690Val)
Xg.154928617G=CA2466835745F8c.5173C= (p.Leu1725=)
c.5068C= (p.Leu1690=)
Xg.154928617G>TCA414913623F8c.5173C>A (p.Leu1725Ile)
c.5068C>A (p.Leu1690Ile)
Xg.154928618C>ACA414913626F8c.5172G>T (p.Arg1724Ser)
c.5067G>T (p.Arg1689Ser)
Xg.154928618C>GCA414913627F8c.5172G>C (p.Arg1724Ser)
c.5067G>C (p.Arg1689Ser)
Xg.154928618C>TCA519718350F8c.5172G>A (p.Arg1724=)
c.5067G>A (p.Arg1689=)
Xg.154928619C>ACA414913628F8c.5171G>T (p.Arg1724Met)
c.5066G>T (p.Arg1689Met)
Xg.154928619C>GCA414913631F8c.5171G>C (p.Arg1724Thr)
c.5066G>C (p.Arg1689Thr)
Xg.154928619C>TCA414913630F8c.5171G>A (p.Arg1724Lys)
c.5066G>A (p.Arg1689Lys)
Xg.154928620T>ACA414913633F8c.5170A>T (p.Arg1724Trp)
c.5065A>T (p.Arg1689Trp)
Xg.154928620T>CCA414913635F8c.5170A>G (p.Arg1724Gly)
c.5065A>G (p.Arg1689Gly)
Xg.154928620T>GCA519718351F8c.5170A>C (p.Arg1724=)
c.5065A>C (p.Arg1689=)
Xg.154928621C>ACA414913638F8c.5169G>T (p.Glu1723Asp)
c.5064G>T (p.Glu1688Asp)
Xg.154928621C>GCA414913639F8c.5169G>C (p.Glu1723Asp)
c.5064G>C (p.Glu1688Asp)
Xg.154928621C>TCA519718352F8c.5169G>A (p.Glu1723=)
c.5064G>A (p.Glu1688=)
 gnomAD v4
Xg.154928622T>ACA414913640F8c.5168A>T (p.Glu1723Val)
c.5063A>T (p.Glu1688Val)
Xg.154928622T>CCA414913642F8c.5168A>G (p.Glu1723Gly)
c.5063A>G (p.Glu1688Gly)
Xg.154928622T>GCA414913643F8c.5168A>C (p.Glu1723Ala)
c.5063A>C (p.Glu1688Ala)
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)

Number of alleles fetched