Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169529647G>ACA343129535F5c.5380C>T (p.Leu1794Phe)
c.5395C>T (p.Leu1799Phe)
c.4969C>T (p.Leu1657Phe)
1g.169529647G>CCA343129537F5c.5380C>G (p.Leu1794Val)
c.5395C>G (p.Leu1799Val)
c.4969C>G (p.Leu1657Val)
1g.169529647G>TCA343129538F5c.5380C>A (p.Leu1794Ile)
c.5395C>A (p.Leu1799Ile)
c.4969C>A (p.Leu1657Ile)
1g.169529648T>ACA343129542F5c.5379A>T (p.Arg1793Ser)
c.5394A>T (p.Arg1798Ser)
c.4968A>T (p.Arg1656Ser)
1g.169529648T>CCA421737474F5c.5379A>G (p.Arg1793=)
c.5394A>G (p.Arg1798=)
c.4968A>G (p.Arg1656=)
1g.169529648T>GCA343129541F5c.5379A>C (p.Arg1793Ser)
c.5394A>C (p.Arg1798Ser)
c.4968A>C (p.Arg1656Ser)
1g.169529649C>ACA343129543F5c.5378G>T (p.Arg1793Ile)
c.5393G>T (p.Arg1798Ile)
c.4967G>T (p.Arg1656Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529649C=CA1206135813F5c.5378G= (p.Arg1793=)
c.5393G= (p.Arg1798=)
c.4967G= (p.Arg1656=)
1g.169529649C>GCA343129545F5c.5378G>C (p.Arg1793Thr)
c.5393G>C (p.Arg1798Thr)
c.4967G>C (p.Arg1656Thr)
 COSMIC
1g.169529649C>TCA343129547F5c.5378G>A (p.Arg1793Lys)
c.5393G>A (p.Arg1798Lys)
c.4967G>A (p.Arg1656Lys)
 gnomAD v4
1g.169529650T>ACA343129557F5c.5377A>T (p.Arg1793Ter)
c.5392A>T (p.Arg1798Ter)
c.4966A>T (p.Arg1656Ter)
1g.169529650T>CCA343129559F5c.5377A>G (p.Arg1793Gly)
c.5392A>G (p.Arg1798Gly)
c.4966A>G (p.Arg1656Gly)
1g.169529650T>GCA421737487F5c.5377A>C (p.Arg1793=)
c.5392A>C (p.Arg1798=)
c.4966A>C (p.Arg1656=)
1g.169529651C>ACA343129587F5c.5376G>T (p.Trp1792Cys)
c.5391G>T (p.Trp1797Cys)
c.4965G>T (p.Trp1655Cys)
1g.169529651C=CA1206135814F5c.5376G= (p.Trp1792=)
c.5391G= (p.Trp1797=)
c.4965G= (p.Trp1655=)
1g.169529651C>GCA343129583F5c.5376G>C (p.Trp1792Cys)
c.5391G>C (p.Trp1797Cys)
c.4965G>C (p.Trp1655Cys)
1g.169529651C>TCA1233517F5c.5376G>A (p.Trp1792Ter)
c.5391G>A (p.Trp1797Ter)
c.4965G>A (p.Trp1655Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.169529652C>ACA343129594F5c.5375G>T (p.Trp1792Leu)
c.5390G>T (p.Trp1797Leu)
c.4964G>T (p.Trp1655Leu)
1g.169529652C=CA1144440145F5c.5375G= (p.Trp1792=)
c.5390G= (p.Trp1797=)
c.4964G= (p.Trp1655=)
1g.169529652C>GCA343129602F5c.5375G>C (p.Trp1792Ser)
c.5390G>C (p.Trp1797Ser)
c.4964G>C (p.Trp1655Ser)
1g.169529652C>TCA1233518F5c.5375G>A (p.Trp1792Ter)
c.5390G>A (p.Trp1797Ter)
c.4964G>A (p.Trp1655Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529653A>CCA343129627F5c.5374T>G (p.Trp1792Gly)
c.5389T>G (p.Trp1797Gly)
c.4963T>G (p.Trp1655Gly)
1g.169529653A>GCA343129628F5c.5374T>C (p.Trp1792Arg)
c.5389T>C (p.Trp1797Arg)
c.4963T>C (p.Trp1655Arg)
1g.169529653A>TCA343129629F5c.5374T>A (p.Trp1792Arg)
c.5389T>A (p.Trp1797Arg)
c.4963T>A (p.Trp1655Arg)
1g.169529654A=CA1206135815F5c.5373T= (p.Ser1791=)
c.5388T= (p.Ser1796=)
c.4962T= (p.Ser1654=)
1g.169529654A>CCA421737504F5c.5373T>G (p.Ser1791=)
c.5388T>G (p.Ser1796=)
c.4962T>G (p.Ser1654=)
1g.169529654A>GCA421737505F5c.5373T>C (p.Ser1791=)
c.5388T>C (p.Ser1796=)
c.4962T>C (p.Ser1654=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529654A>TCA421737506F5c.5373T>A (p.Ser1791=)
c.5388T>A (p.Ser1796=)
c.4962T>A (p.Ser1654=)
1g.169529655G>ACA1233519F5c.5372C>T (p.Ser1791Phe)
c.5387C>T (p.Ser1796Phe)
c.4961C>T (p.Ser1654Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529655G>CCA343129642F5c.5372C>G (p.Ser1791Cys)
c.5387C>G (p.Ser1796Cys)
c.4961C>G (p.Ser1654Cys)
1g.169529655G=CA1206135816F5c.5372C= (p.Ser1791=)
c.5387C= (p.Ser1796=)
c.4961C= (p.Ser1654=)
1g.169529655G>TCA343129638F5c.5372C>A (p.Ser1791Tyr)
c.5387C>A (p.Ser1796Tyr)
c.4961C>A (p.Ser1654Tyr)
1g.169529656A>CCA343129648F5c.5371T>G (p.Ser1791Ala)
c.5386T>G (p.Ser1796Ala)
c.4960T>G (p.Ser1654Ala)
1g.169529656A>GCA343129653F5c.5371T>C (p.Ser1791Pro)
c.5386T>C (p.Ser1796Pro)
c.4960T>C (p.Ser1654Pro)
1g.169529656A>TCA343129661F5c.5371T>A (p.Ser1791Thr)
c.5386T>A (p.Ser1796Thr)
c.4960T>A (p.Ser1654Thr)
1g.169529657A=CA1143907211F5c.5370T= (p.Ser1790=)
c.5385T= (p.Ser1795=)
c.4959T= (p.Ser1653=)
1g.169529657A>CCA343129676F5c.5370T>G (p.Ser1790Arg)
c.5385T>G (p.Ser1795Arg)
c.4959T>G (p.Ser1653Arg)
1g.169529657A>GCA421737507F5c.5370T>C (p.Ser1790=)
c.5385T>C (p.Ser1795=)
c.4959T>C (p.Ser1653=)
1g.169529657A>TCA1233520F5c.5370T>A (p.Ser1790Arg)
c.5385T>A (p.Ser1795Arg)
c.4959T>A (p.Ser1653Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529658C>ACA343129686F5c.5369G>T (p.Ser1790Ile)
c.5384G>T (p.Ser1795Ile)
c.4958G>T (p.Ser1653Ile)
1g.169529658C>GCA343129690F5c.5369G>C (p.Ser1790Thr)
c.5384G>C (p.Ser1795Thr)
c.4958G>C (p.Ser1653Thr)
1g.169529658C>TCA343129694F5c.5369G>A (p.Ser1790Asn)
c.5384G>A (p.Ser1795Asn)
c.4958G>A (p.Ser1653Asn)
1g.169529659T>ACA343129708F5c.5368A>T (p.Ser1790Cys)
c.5383A>T (p.Ser1795Cys)
c.4957A>T (p.Ser1653Cys)
1g.169529659T>CCA343129709F5c.5368A>G (p.Ser1790Gly)
c.5383A>G (p.Ser1795Gly)
c.4957A>G (p.Ser1653Gly)
1g.169529659T>GCA343129710F5c.5368A>C (p.Ser1790Arg)
c.5383A>C (p.Ser1795Arg)
c.4957A>C (p.Ser1653Arg)
 gnomAD v4
1g.169529660T>ACA421737512F5c.5367A>T (p.Arg1789=)
c.5382A>T (p.Arg1794=)
c.4956A>T (p.Arg1652=)
1g.169529660T>CCA421737513F5c.5367A>G (p.Arg1789=)
c.5382A>G (p.Arg1794=)
c.4956A>G (p.Arg1652=)
 COSMIC
1g.169529660T>GCA421737515F5c.5367A>C (p.Arg1789=)
c.5382A>C (p.Arg1794=)
c.4956A>C (p.Arg1652=)
1g.169529661C>ACA343129714F5c.5366G>T (p.Arg1789Leu)
c.5381G>T (p.Arg1794Leu)
c.4955G>T (p.Arg1652Leu)
1g.169529661C=CA1206135817F5c.5366G= (p.Arg1789=)
c.5381G= (p.Arg1794=)
c.4955G= (p.Arg1652=)
1g.169529661C>GCA343129717F5c.5366G>C (p.Arg1789Pro)
c.5381G>C (p.Arg1794Pro)
c.4955G>C (p.Arg1652Pro)
 COSMIC
1g.169529661C>TCA1233521F5c.5366G>A (p.Arg1789Gln)
c.5381G>A (p.Arg1794Gln)
c.4955G>A (p.Arg1652Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529662G>ACA1233522F5c.5365C>T (p.Arg1789Ter)
c.5380C>T (p.Arg1794Ter)
c.4954C>T (p.Arg1652Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529662G>CCA343129730F5c.5365C>G (p.Arg1789Gly)
c.5380C>G (p.Arg1794Gly)
c.4954C>G (p.Arg1652Gly)
1g.169529662G=CA1143506145F5c.5365C= (p.Arg1789=)
c.5380C= (p.Arg1794=)
c.4954C= (p.Arg1652=)
1g.169529662G>TCA421737517F5c.5365C>A (p.Arg1789=)
c.5380C>A (p.Arg1794=)
c.4954C>A (p.Arg1652=)
1g.169529663G>ACA421737518F5c.5364C>T (p.Ser1788=)
c.5379C>T (p.Ser1793=)
c.4953C>T (p.Ser1651=)
1g.169529663G>CCA421737519F5c.5364C>G (p.Ser1788=)
c.5379C>G (p.Ser1793=)
c.4953C>G (p.Ser1651=)
1g.169529663G>TCA421737520F5c.5364C>A (p.Ser1788=)
c.5379C>A (p.Ser1793=)
c.4953C>A (p.Ser1651=)
1g.169529664G>ACA1233523F5c.5363C>T (p.Ser1788Phe)
c.5378C>T (p.Ser1793Phe)
c.4952C>T (p.Ser1651Phe)
 dbSNP ExAC gnomAD v2
1g.169529664G>CCA343129736F5c.5363C>G (p.Ser1788Cys)
c.5378C>G (p.Ser1793Cys)
c.4952C>G (p.Ser1651Cys)
1g.169529664G=CA1149104587F5c.5363C= (p.Ser1788=)
c.5378C= (p.Ser1793=)
c.4952C= (p.Ser1651=)
1g.169529664G>TCA343129738F5c.5363C>A (p.Ser1788Tyr)
c.5378C>A (p.Ser1793Tyr)
c.4952C>A (p.Ser1651Tyr)
 COSMIC
1g.169529665A>CCA343129747F5c.5362T>G (p.Ser1788Ala)
c.5377T>G (p.Ser1793Ala)
c.4951T>G (p.Ser1651Ala)
1g.169529665A>GCA343129758F5c.5362T>C (p.Ser1788Pro)
c.5377T>C (p.Ser1793Pro)
c.4951T>C (p.Ser1651Pro)
1g.169529665A>TCA343129768F5c.5362T>A (p.Ser1788Thr)
c.5377T>A (p.Ser1793Thr)
c.4951T>A (p.Ser1651Thr)
 COSMIC
1g.169529666C>ACA343129771F5c.5361G>T (p.Lys1787Asn)
c.5376G>T (p.Lys1792Asn)
c.4950G>T (p.Lys1650Asn)
 gnomAD v4
1g.169529666C>GCA343129772F5c.5361G>C (p.Lys1787Asn)
c.5376G>C (p.Lys1792Asn)
c.4950G>C (p.Lys1650Asn)
 gnomAD v4
1g.169529666C>TCA421737521F5c.5361G>A (p.Lys1787=)
c.5376G>A (p.Lys1792=)
c.4950G>A (p.Lys1650=)
1g.169529677_169529697dupCA2649035353F5c.5341_5361dup (p.Lys1787_Ser1788insSerTrpTyrTyrGluLysLys)
c.5356_5376dup (p.Lys1792_Ser1793insSerTrpTyrTyrGluLysLys)
c.4930_4950dup (p.Lys1650_Ser1651insSerTrpTyrTyrGluLysLys)
 gnomAD v4
1g.169529667T>ACA343129775F5c.5360A>T (p.Lys1787Met)
c.5375A>T (p.Lys1792Met)
c.4949A>T (p.Lys1650Met)
1g.169529667T>CCA343129778F5c.5360A>G (p.Lys1787Arg)
c.5375A>G (p.Lys1792Arg)
c.4949A>G (p.Lys1650Arg)
1g.169529667T>GCA343129781F5c.5360A>C (p.Lys1787Thr)
c.5375A>C (p.Lys1792Thr)
c.4949A>C (p.Lys1650Thr)
1g.169529668T>ACA343129788F5c.5359A>T (p.Lys1787Ter)
c.5374A>T (p.Lys1792Ter)
c.4948A>T (p.Lys1650Ter)
1g.169529668T>CCA343129793F5c.5359A>G (p.Lys1787Glu)
c.5374A>G (p.Lys1792Glu)
c.4948A>G (p.Lys1650Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.169529668T>GCA343129792F5c.5359A>C (p.Lys1787Gln)
c.5374A>C (p.Lys1792Gln)
c.4948A>C (p.Lys1650Gln)
1g.169529668T=CA1206135818F5c.5359A= (p.Lys1787=)
c.5374A= (p.Lys1792=)
c.4948A= (p.Lys1650=)
1g.169529669C>ACA343129803F5c.5358G>T (p.Lys1786Asn)
c.5373G>T (p.Lys1791Asn)
c.4947G>T (p.Lys1649Asn)
1g.169529669C>GCA343129809F5c.5358G>C (p.Lys1786Asn)
c.5373G>C (p.Lys1791Asn)
c.4947G>C (p.Lys1649Asn)
1g.169529669C>TCA421737525F5c.5358G>A (p.Lys1786=)
c.5373G>A (p.Lys1791=)
c.4947G>A (p.Lys1649=)
1g.169529670T>ACA343129811F5c.5357A>T (p.Lys1786Met)
c.5372A>T (p.Lys1791Met)
c.4946A>T (p.Lys1649Met)
1g.169529670T>CCA343129817F5c.5357A>G (p.Lys1786Arg)
c.5372A>G (p.Lys1791Arg)
c.4946A>G (p.Lys1649Arg)
1g.169529670T>GCA343129813F5c.5357A>C (p.Lys1786Thr)
c.5372A>C (p.Lys1791Thr)
c.4946A>C (p.Lys1649Thr)
1g.169529671T>ACA343129821F5c.5356A>T (p.Lys1786Ter)
c.5371A>T (p.Lys1791Ter)
c.4945A>T (p.Lys1649Ter)
1g.169529671T>CCA343129824F5c.5356A>G (p.Lys1786Glu)
c.5371A>G (p.Lys1791Glu)
c.4945A>G (p.Lys1649Glu)
1g.169529671T>GCA343129833F5c.5356A>C (p.Lys1786Gln)
c.5371A>C (p.Lys1791Gln)
c.4945A>C (p.Lys1649Gln)
1g.169529672T>ACA343129840F5c.5355A>T (p.Glu1785Asp)
c.5370A>T (p.Glu1790Asp)
c.4944A>T (p.Glu1648Asp)
1g.169529672T>CCA421737537F5c.5355A>G (p.Glu1785=)
c.5370A>G (p.Glu1790=)
c.4944A>G (p.Glu1648=)
1g.169529672T>GCA343129842F5c.5355A>C (p.Glu1785Asp)
c.5370A>C (p.Glu1790Asp)
c.4944A>C (p.Glu1648Asp)
 gnomAD v4
1g.169529673T>ACA343129846F5c.5354A>T (p.Glu1785Val)
c.5369A>T (p.Glu1790Val)
c.4943A>T (p.Glu1648Val)
1g.169529673T>CCA343129848F5c.5354A>G (p.Glu1785Gly)
c.5369A>G (p.Glu1790Gly)
c.4943A>G (p.Glu1648Gly)
 gnomAD v4
1g.169529673T>GCA343129852F5c.5354A>C (p.Glu1785Ala)
c.5369A>C (p.Glu1790Ala)
c.4943A>C (p.Glu1648Ala)
1g.169529674C>ACA343129855F5c.5353G>T (p.Glu1785Ter)
c.5368G>T (p.Glu1790Ter)
c.4942G>T (p.Glu1648Ter)
1g.169529674C>GCA343129857F5c.5353G>C (p.Glu1785Gln)
c.5368G>C (p.Glu1790Gln)
c.4942G>C (p.Glu1648Gln)
1g.169529674C>TCA343129861F5c.5353G>A (p.Glu1785Lys)
c.5368G>A (p.Glu1790Lys)
c.4942G>A (p.Glu1648Lys)
1g.169529675A>CCA343129865F5c.5352T>G (p.Tyr1784Ter)
c.5367T>G (p.Tyr1789Ter)
c.4941T>G (p.Tyr1647Ter)
1g.169529675A>GCA421737550F5c.5352T>C (p.Tyr1784=)
c.5367T>C (p.Tyr1789=)
c.4941T>C (p.Tyr1647=)
1g.169529675A>TCA343129864F5c.5352T>A (p.Tyr1784Ter)
c.5367T>A (p.Tyr1789Ter)
c.4941T>A (p.Tyr1647Ter)
1g.169529676T>ACA343129866F5c.5351A>T (p.Tyr1784Phe)
c.5366A>T (p.Tyr1789Phe)
c.4940A>T (p.Tyr1647Phe)
1g.169529676T>CCA32434751F5c.5351A>G (p.Tyr1784Cys)
c.5366A>G (p.Tyr1789Cys)
c.4940A>G (p.Tyr1647Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.169529676T>GCA343129869F5c.5351A>C (p.Tyr1784Ser)
c.5366A>C (p.Tyr1789Ser)
c.4940A>C (p.Tyr1647Ser)
1g.169529676T=CA1206135819F5c.5351A= (p.Tyr1784=)
c.5366A= (p.Tyr1789=)
c.4940A= (p.Tyr1647=)
1g.169529677A>CCA343129877F5c.5350T>G (p.Tyr1784Asp)
c.5365T>G (p.Tyr1789Asp)
c.4939T>G (p.Tyr1647Asp)
1g.169529677A>GCA343129882F5c.5350T>C (p.Tyr1784His)
c.5365T>C (p.Tyr1789His)
c.4939T>C (p.Tyr1647His)
 gnomAD v4
1g.169529677A>TCA343129885F5c.5350T>A (p.Tyr1784Asn)
c.5365T>A (p.Tyr1789Asn)
c.4939T>A (p.Tyr1647Asn)
1g.169529678G>ACA421737573F5c.5349C>T (p.Tyr1783=)
c.5364C>T (p.Tyr1788=)
c.4938C>T (p.Tyr1646=)
1g.169529678G>CCA343129887F5c.5349C>G (p.Tyr1783Ter)
c.5364C>G (p.Tyr1788Ter)
c.4938C>G (p.Tyr1646Ter)
1g.169529678G>TCA343129888F5c.5349C>A (p.Tyr1783Ter)
c.5364C>A (p.Tyr1788Ter)
c.4938C>A (p.Tyr1646Ter)
1g.169529679T>ACA343129890F5c.5348A>T (p.Tyr1783Phe)
c.5363A>T (p.Tyr1788Phe)
c.4937A>T (p.Tyr1646Phe)
1g.169529679T>CCA343129892F5c.5348A>G (p.Tyr1783Cys)
c.5363A>G (p.Tyr1788Cys)
c.4937A>G (p.Tyr1646Cys)
1g.169529679T>GCA343129894F5c.5348A>C (p.Tyr1783Ser)
c.5363A>C (p.Tyr1788Ser)
c.4937A>C (p.Tyr1646Ser)
1g.169529680A=CA1144427972F5c.5347T= (p.Tyr1783=)
c.5362T= (p.Tyr1788=)
c.4936T= (p.Tyr1646=)
1g.169529680A>CCA343129897F5c.5347T>G (p.Tyr1783Asp)
c.5362T>G (p.Tyr1788Asp)
c.4936T>G (p.Tyr1646Asp)
 gnomAD v4
1g.169529680A>GCA32434766F5c.5347T>C (p.Tyr1783His)
c.5362T>C (p.Tyr1788His)
c.4936T>C (p.Tyr1646His)
 dbSNP COSMIC
1g.169529680A>TCA343129896F5c.5347T>A (p.Tyr1783Asn)
c.5362T>A (p.Tyr1788Asn)
c.4936T>A (p.Tyr1646Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.169529681C>ACA343129900F5c.5346G>T (p.Trp1782Cys)
c.5361G>T (p.Trp1787Cys)
c.4935G>T (p.Trp1645Cys)
1g.169529681C=CA1206135820F5c.5346G= (p.Trp1782=)
c.5361G= (p.Trp1787=)
c.4935G= (p.Trp1645=)
1g.169529681C>GCA343129903F5c.5346G>C (p.Trp1782Cys)
c.5361G>C (p.Trp1787Cys)
c.4935G>C (p.Trp1645Cys)
1g.169529681C>TCA1233524F5c.5346G>A (p.Trp1782Ter)
c.5361G>A (p.Trp1787Ter)
c.4935G>A (p.Trp1645Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529682C>ACA343129907F5c.5345G>T (p.Trp1782Leu)
c.5360G>T (p.Trp1787Leu)
c.4934G>T (p.Trp1645Leu)
 COSMIC
1g.169529682C>GCA343129910F5c.5345G>C (p.Trp1782Ser)
c.5360G>C (p.Trp1787Ser)
c.4934G>C (p.Trp1645Ser)
1g.169529682C>TCA343129916F5c.5345G>A (p.Trp1782Ter)
c.5360G>A (p.Trp1787Ter)
c.4934G>A (p.Trp1645Ter)
1g.169529683A>CCA343129918F5c.5344T>G (p.Trp1782Gly)
c.5359T>G (p.Trp1787Gly)
c.4933T>G (p.Trp1645Gly)
1g.169529683A>GCA343129920F5c.5344T>C (p.Trp1782Arg)
c.5359T>C (p.Trp1787Arg)
c.4933T>C (p.Trp1645Arg)
1g.169529683A>TCA343129923F5c.5344T>A (p.Trp1782Arg)
c.5359T>A (p.Trp1787Arg)
c.4933T>A (p.Trp1645Arg)
1g.169529684G>ACA421737617F5c.5343C>T (p.Ser1781=)
c.5358C>T (p.Ser1786=)
c.4932C>T (p.Ser1644=)
1g.169529684G>CCA343129925F5c.5343C>G (p.Ser1781Arg)
c.5358C>G (p.Ser1786Arg)
c.4932C>G (p.Ser1644Arg)
1g.169529684G>TCA343129927F5c.5343C>A (p.Ser1781Arg)
c.5358C>A (p.Ser1786Arg)
c.4932C>A (p.Ser1644Arg)
1g.169529685C>ACA343129935F5c.5342G>T (p.Ser1781Ile)
c.5357G>T (p.Ser1786Ile)
c.4931G>T (p.Ser1644Ile)
1g.169529685C>GCA343129931F5c.5342G>C (p.Ser1781Thr)
c.5357G>C (p.Ser1786Thr)
c.4931G>C (p.Ser1644Thr)
1g.169529685C>TCA343129929F5c.5342G>A (p.Ser1781Asn)
c.5357G>A (p.Ser1786Asn)
c.4931G>A (p.Ser1644Asn)
 gnomAD v4
1g.169529686T>ACA343129938F5c.5341A>T (p.Ser1781Cys)
c.5356A>T (p.Ser1786Cys)
c.4930A>T (p.Ser1644Cys)
1g.169529686T>CCA343129940F5c.5341A>G (p.Ser1781Gly)
c.5356A>G (p.Ser1786Gly)
c.4930A>G (p.Ser1644Gly)
1g.169529686T>GCA343129943F5c.5341A>C (p.Ser1781Arg)
c.5356A>C (p.Ser1786Arg)
c.4930A>C (p.Ser1644Arg)
1g.169529687C>ACA343129946F5c.5340G>T (p.Lys1780Asn)
c.5355G>T (p.Lys1785Asn)
c.4929G>T (p.Lys1643Asn)
1g.169529687C>GCA343129964F5c.5340G>C (p.Lys1780Asn)
c.5355G>C (p.Lys1785Asn)
c.4929G>C (p.Lys1643Asn)
1g.169529687C>TCA421737635F5c.5340G>A (p.Lys1780=)
c.5355G>A (p.Lys1785=)
c.4929G>A (p.Lys1643=)
1g.169529688T>ACA343129966F5c.5339A>T (p.Lys1780Met)
c.5354A>T (p.Lys1785Met)
c.4928A>T (p.Lys1643Met)
1g.169529688T>CCA343129968F5c.5339A>G (p.Lys1780Arg)
c.5354A>G (p.Lys1785Arg)
c.4928A>G (p.Lys1643Arg)
1g.169529688T>GCA343129971F5c.5339A>C (p.Lys1780Thr)
c.5354A>C (p.Lys1785Thr)
c.4928A>C (p.Lys1643Thr)
1g.169529689T>ACA343129974F5c.5338A>T (p.Lys1780Ter)
c.5353A>T (p.Lys1785Ter)
c.4927A>T (p.Lys1643Ter)
1g.169529689T>CCA343129976F5c.5338A>G (p.Lys1780Glu)
c.5353A>G (p.Lys1785Glu)
c.4927A>G (p.Lys1643Glu)
1g.169529689T>GCA343129979F5c.5338A>C (p.Lys1780Gln)
c.5353A>C (p.Lys1785Gln)
c.4927A>C (p.Lys1643Gln)
1g.169529690C>ACA343129980F5c.5337G>T (p.Lys1779Asn)
c.5352G>T (p.Lys1784Asn)
c.4926G>T (p.Lys1642Asn)
1g.169529690C>GCA343129981F5c.5337G>C (p.Lys1779Asn)
c.5352G>C (p.Lys1784Asn)
c.4926G>C (p.Lys1642Asn)
1g.169529690C>TCA421737669F5c.5337G>A (p.Lys1779=)
c.5352G>A (p.Lys1784=)
c.4926G>A (p.Lys1642=)
1g.169529691T>ACA343129986F5c.5336A>T (p.Lys1779Met)
c.5351A>T (p.Lys1784Met)
c.4925A>T (p.Lys1642Met)
1g.169529691T>CCA32434778F5c.5336A>G (p.Lys1779Arg)
c.5351A>G (p.Lys1784Arg)
c.4925A>G (p.Lys1642Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529691T>GCA343129984F5c.5336A>C (p.Lys1779Thr)
c.5351A>C (p.Lys1784Thr)
c.4925A>C (p.Lys1642Thr)
1g.169529691T=CA1206135821F5c.5336A= (p.Lys1779=)
c.5351A= (p.Lys1784=)
c.4925A= (p.Lys1642=)
1g.169529694delCA2574085083F5c.5336del (p.Lys1779ArgfsTer21)
c.5351del (p.Lys1784ArgfsTer21)
c.4925del (p.Lys1642ArgfsTer21)
1g.169529692T>ACA343129989F5c.5335A>T (p.Lys1779Ter)
c.5350A>T (p.Lys1784Ter)
c.4924A>T (p.Lys1642Ter)
1g.169529692T>CCA343129994F5c.5335A>G (p.Lys1779Glu)
c.5350A>G (p.Lys1784Glu)
c.4924A>G (p.Lys1642Glu)
1g.169529692T>GCA343129997F5c.5335A>C (p.Lys1779Gln)
c.5350A>C (p.Lys1784Gln)
c.4924A>C (p.Lys1642Gln)
1g.169529693T>ACA343130006F5c.5334A>T (p.Glu1778Asp)
c.5349A>T (p.Glu1783Asp)
c.4923A>T (p.Glu1641Asp)
1g.169529693T>CCA421737704F5c.5334A>G (p.Glu1778=)
c.5349A>G (p.Glu1783=)
c.4923A>G (p.Glu1641=)
1g.169529693T>GCA343130011F5c.5334A>C (p.Glu1778Asp)
c.5349A>C (p.Glu1783Asp)
c.4923A>C (p.Glu1641Asp)
1g.169529694T>ACA343130015F5c.5333A>T (p.Glu1778Val)
c.5348A>T (p.Glu1783Val)
c.4922A>T (p.Glu1641Val)
1g.169529694T>CCA343130017F5c.5333A>G (p.Glu1778Gly)
c.5348A>G (p.Glu1783Gly)
c.4922A>G (p.Glu1641Gly)
1g.169529694T>GCA343130018F5c.5333A>C (p.Glu1778Ala)
c.5348A>C (p.Glu1783Ala)
c.4922A>C (p.Glu1641Ala)
1g.169529695C>ACA343130022F5c.5332G>T (p.Glu1778Ter)
c.5347G>T (p.Glu1783Ter)
c.4921G>T (p.Glu1641Ter)
 gnomAD v4
1g.169529695C=CA1206135822F5c.5332G= (p.Glu1778=)
c.5347G= (p.Glu1783=)
c.4921G= (p.Glu1641=)
1g.169529695C>GCA10608707F5c.5332G>C (p.Glu1778Gln)
c.5347G>C (p.Glu1783Gln)
c.4921G>C (p.Glu1641Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529695C>TCA343130030F5c.5332G>A (p.Glu1778Lys)
c.5347G>A (p.Glu1783Lys)
c.4921G>A (p.Glu1641Lys)
1g.169529696A=CA1206135823F5c.5331T= (p.Asp1777=)
c.5346T= (p.Asp1782=)
c.4920T= (p.Asp1640=)
1g.169529696A>CCA343130061F5c.5331T>G (p.Asp1777Glu)
c.5346T>G (p.Asp1782Glu)
c.4920T>G (p.Asp1640Glu)
 dbSNP
1g.169529696A>GCA421737717F5c.5331T>C (p.Asp1777=)
c.5346T>C (p.Asp1782=)
c.4920T>C (p.Asp1640=)
 dbSNP
1g.169529696A>TCA343130072F5c.5331T>A (p.Asp1777Glu)
c.5346T>A (p.Asp1782Glu)
c.4920T>A (p.Asp1640Glu)
1g.169529697T>ACA343130101F5c.5330A>T (p.Asp1777Val)
c.5345A>T (p.Asp1782Val)
c.4919A>T (p.Asp1640Val)
1g.169529697T>CCA343130095F5c.5330A>G (p.Asp1777Gly)
c.5345A>G (p.Asp1782Gly)
c.4919A>G (p.Asp1640Gly)
1g.169529697T>GCA343130087F5c.5330A>C (p.Asp1777Ala)
c.5345A>C (p.Asp1782Ala)
c.4919A>C (p.Asp1640Ala)
1g.169529697dupCA527131148F5c.5330dup (p.Asp1777GlufsTer2)
c.5345dup (p.Asp1782GlufsTer2)
c.4919dup (p.Asp1640GlufsTer2)
 dbSNP gnomAD v2 gnomAD v4
1g.169529698C>ACA343130119F5c.5329G>T (p.Asp1777Tyr)
c.5344G>T (p.Asp1782Tyr)
c.4918G>T (p.Asp1640Tyr)
1g.169529698C>GCA343130122F5c.5329G>C (p.Asp1777His)
c.5344G>C (p.Asp1782His)
c.4918G>C (p.Asp1640His)
1g.169529698C>TCA343130123F5c.5329G>A (p.Asp1777Asn)
c.5344G>A (p.Asp1782Asn)
c.4918G>A (p.Asp1640Asn)
 gnomAD v4
1g.169529699A>CCA343130127F5c.5328T>G (p.Phe1776Leu)
c.5343T>G (p.Phe1781Leu)
c.4917T>G (p.Phe1639Leu)
 gnomAD v4
1g.169529699A>GCA421737743F5c.5328T>C (p.Phe1776=)
c.5343T>C (p.Phe1781=)
c.4917T>C (p.Phe1639=)
1g.169529699A>TCA343130129F5c.5328T>A (p.Phe1776Leu)
c.5343T>A (p.Phe1781Leu)
c.4917T>A (p.Phe1639Leu)
 gnomAD v4
1g.169529700A>CCA343130139F5c.5327T>G (p.Phe1776Cys)
c.5342T>G (p.Phe1781Cys)
c.4916T>G (p.Phe1639Cys)
 gnomAD v4
1g.169529700A>GCA343130145F5c.5327T>C (p.Phe1776Ser)
c.5342T>C (p.Phe1781Ser)
c.4916T>C (p.Phe1639Ser)
1g.169529700A>TCA343130148F5c.5327T>A (p.Phe1776Tyr)
c.5342T>A (p.Phe1781Tyr)
c.4916T>A (p.Phe1639Tyr)
1g.169529701A=CA1145834984F5c.5326T= (p.Phe1776=)
c.5341T= (p.Phe1781=)
c.4915T= (p.Phe1639=)
1g.169529701A>CCA343130154F5c.5326T>G (p.Phe1776Val)
c.5341T>G (p.Phe1781Val)
c.4915T>G (p.Phe1639Val)
1g.169529701A>GCA343130159F5c.5326T>C (p.Phe1776Leu)
c.5341T>C (p.Phe1781Leu)
c.4915T>C (p.Phe1639Leu)
1g.169529701A>TCA1233525F5c.5326T>A (p.Phe1776Ile)
c.5341T>A (p.Phe1781Ile)
c.4915T>A (p.Phe1639Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529702G>ACA421737755F5c.5325C>T (p.Thr1775=)
c.5340C>T (p.Thr1780=)
c.4914C>T (p.Thr1638=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169529702G>CCA421737757F5c.5325C>G (p.Thr1775=)
c.5340C>G (p.Thr1780=)
c.4914C>G (p.Thr1638=)
1g.169529702G=CA1206135824F5c.5325C= (p.Thr1775=)
c.5340C= (p.Thr1780=)
c.4914C= (p.Thr1638=)
1g.169529702G>TCA421737759F5c.5325C>A (p.Thr1775=)
c.5340C>A (p.Thr1780=)
c.4914C>A (p.Thr1638=)
1g.169529703G>ACA343130164F5c.5324C>T (p.Thr1775Ile)
c.5339C>T (p.Thr1780Ile)
c.4913C>T (p.Thr1638Ile)
 gnomAD v4
1g.169529703G>CCA343130169F5c.5324C>G (p.Thr1775Ser)
c.5339C>G (p.Thr1780Ser)
c.4913C>G (p.Thr1638Ser)
 gnomAD v4
1g.169529703G=CA1206135825F5c.5324C= (p.Thr1775=)
c.5339C= (p.Thr1780=)
c.4913C= (p.Thr1638=)
1g.169529703G>TCA343130173F5c.5324C>A (p.Thr1775Asn)
c.5339C>A (p.Thr1780Asn)
c.4913C>A (p.Thr1638Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.169529704T>ACA343130181F5c.5323A>T (p.Thr1775Ser)
c.5338A>T (p.Thr1780Ser)
c.4912A>T (p.Thr1638Ser)
1g.169529704T>CCA32434781F5c.5323A>G (p.Thr1775Ala)
c.5338A>G (p.Thr1780Ala)
c.4912A>G (p.Thr1638Ala)
 dbSNP
1g.169529704T>GCA343130176F5c.5323A>C (p.Thr1775Pro)
c.5338A>C (p.Thr1780Pro)
c.4912A>C (p.Thr1638Pro)
1g.169529704T=CA1206135826F5c.5323A= (p.Thr1775=)
c.5338A= (p.Thr1780=)
c.4912A= (p.Thr1638=)
1g.169529705C>ACA343130187F5c.5322G>T (p.Met1774Ile)
c.5337G>T (p.Met1779Ile)
c.4911G>T (p.Met1637Ile)
1g.169529705C>GCA343130216F5c.5322G>C (p.Met1774Ile)
c.5337G>C (p.Met1779Ile)
c.4911G>C (p.Met1637Ile)
1g.169529705C>TCA343130218F5c.5322G>A (p.Met1774Ile)
c.5337G>A (p.Met1779Ile)
c.4911G>A (p.Met1637Ile)
1g.169529706A=CA1206135827F5c.5321T= (p.Met1774=)
c.5336T= (p.Met1779=)
c.4910T= (p.Met1637=)
1g.169529706A>CCA343130220F5c.5321T>G (p.Met1774Arg)
c.5336T>G (p.Met1779Arg)
c.4910T>G (p.Met1637Arg)
1g.169529706A>GCA343130223F5c.5321T>C (p.Met1774Thr)
c.5336T>C (p.Met1779Thr)
c.4910T>C (p.Met1637Thr)
 dbSNP
1g.169529706A>TCA343130226F5c.5321T>A (p.Met1774Lys)
c.5336T>A (p.Met1779Lys)
c.4910T>A (p.Met1637Lys)
1g.169529707_169529708delCA2746574112F5c.5320_5321del (p.Met1774AspfsTer3)
c.5335_5336del (p.Met1779AspfsTer3)
c.4909_4910del (p.Met1637AspfsTer3)
1g.169529707T>ACA343130241F5c.5320A>T (p.Met1774Leu)
c.5335A>T (p.Met1779Leu)
c.4909A>T (p.Met1637Leu)
1g.169529707T>CCA343130234F5c.5320A>G (p.Met1774Val)
c.5335A>G (p.Met1779Val)
c.4909A>G (p.Met1637Val)
 gnomAD v4
1g.169529707T>GCA343130238F5c.5320A>C (p.Met1774Leu)
c.5335A>C (p.Met1779Leu)
c.4909A>C (p.Met1637Leu)
1g.169529707T=CA1206135828F5c.5320A= (p.Met1774=)
c.5335A= (p.Met1779=)
c.4909A= (p.Met1637=)
1g.169529708A>CCA343130245F5c.5319T>G (p.Phe1773Leu)
c.5334T>G (p.Phe1778Leu)
c.4908T>G (p.Phe1636Leu)
1g.169529708A>GCA421737770F5c.5319T>C (p.Phe1773=)
c.5334T>C (p.Phe1778=)
c.4908T>C (p.Phe1636=)
1g.169529708A>TCA343130249F5c.5319T>A (p.Phe1773Leu)
c.5334T>A (p.Phe1778Leu)
c.4908T>A (p.Phe1636Leu)
1g.169529710dupCA527131149F5c.5319dup (p.Met1774TyrfsTer4)
c.5334dup (p.Met1779TyrfsTer4)
c.4908dup (p.Met1637TyrfsTer4)
 dbSNP gnomAD v2
1g.169529709A>CCA343130262F5c.5318T>G (p.Phe1773Cys)
c.5333T>G (p.Phe1778Cys)
c.4907T>G (p.Phe1636Cys)
1g.169529709A>GCA343130264F5c.5318T>C (p.Phe1773Ser)
c.5333T>C (p.Phe1778Ser)
c.4907T>C (p.Phe1636Ser)
1g.169529709A>TCA343130267F5c.5318T>A (p.Phe1773Tyr)
c.5333T>A (p.Phe1778Tyr)
c.4907T>A (p.Phe1636Tyr)
1g.169529710A>CCA343130282F5c.5317T>G (p.Phe1773Val)
c.5332T>G (p.Phe1778Val)
c.4906T>G (p.Phe1636Val)
1g.169529710A>GCA343130288F5c.5317T>C (p.Phe1773Leu)
c.5332T>C (p.Phe1778Leu)
c.4906T>C (p.Phe1636Leu)
1g.169529710A>TCA343130285F5c.5317T>A (p.Phe1773Ile)
c.5332T>A (p.Phe1778Ile)
c.4906T>A (p.Phe1636Ile)
1g.169529711T>ACA421737777F5c.5316A>T (p.Leu1772=)
c.5331A>T (p.Leu1777=)
c.4905A>T (p.Leu1635=)
1g.169529711T>CCA421737779F5c.5316A>G (p.Leu1772=)
c.5331A>G (p.Leu1777=)
c.4905A>G (p.Leu1635=)
 dbSNP gnomAD v2 gnomAD v4
1g.169529711T>GCA1233526F5c.5316A>C (p.Leu1772=)
c.5331A>C (p.Leu1777=)
c.4905A>C (p.Leu1635=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529711T=CA1148250655F5c.5316A= (p.Leu1772=)
c.5331A= (p.Leu1777=)
c.4905A= (p.Leu1635=)
1g.169529712A>CCA343130299F5c.5315T>G (p.Leu1772Arg)
c.5330T>G (p.Leu1777Arg)
c.4904T>G (p.Leu1635Arg)
1g.169529712A>GCA343130301F5c.5315T>C (p.Leu1772Pro)
c.5330T>C (p.Leu1777Pro)
c.4904T>C (p.Leu1635Pro)
1g.169529712A>TCA343130306F5c.5315T>A (p.Leu1772Gln)
c.5330T>A (p.Leu1777Gln)
c.4904T>A (p.Leu1635Gln)
 gnomAD v4
1g.169529713G>ACA421737785F5c.5314C>T (p.Leu1772=)
c.5329C>T (p.Leu1777=)
c.4903C>T (p.Leu1635=)
 gnomAD v4
1g.169529713G>CCA343130310F5c.5314C>G (p.Leu1772Val)
c.5329C>G (p.Leu1777Val)
c.4903C>G (p.Leu1635Val)
1g.169529713G>TCA343130311F5c.5314C>A (p.Leu1772Ile)
c.5329C>A (p.Leu1777Ile)
c.4903C>A (p.Leu1635Ile)
1g.169529714T>ACA343130312F5c.5313A>T (p.Leu1771Phe)
c.5328A>T (p.Leu1776Phe)
c.4902A>T (p.Leu1634Phe)
1g.169529714T>CCA421737792F5c.5313A>G (p.Leu1771=)
c.5328A>G (p.Leu1776=)
c.4902A>G (p.Leu1634=)
1g.169529714T>GCA343130313F5c.5313A>C (p.Leu1771Phe)
c.5328A>C (p.Leu1776Phe)
c.4902A>C (p.Leu1634Phe)
1g.169529715A>CCA343130314F5c.5312T>G (p.Leu1771Ter)
c.5327T>G (p.Leu1776Ter)
c.4901T>G (p.Leu1634Ter)
1g.169529715A>GCA343130315F5c.5312T>C (p.Leu1771Ser)
c.5327T>C (p.Leu1776Ser)
c.4901T>C (p.Leu1634Ser)
1g.169529715A>TCA343130316F5c.5312T>A (p.Leu1771Ter)
c.5327T>A (p.Leu1776Ter)
c.4901T>A (p.Leu1634Ter)
1g.169529716A>CCA343130318F5c.5311T>G (p.Leu1771Val)
c.5326T>G (p.Leu1776Val)
c.4900T>G (p.Leu1634Val)
1g.169529716A>GCA421737802F5c.5311T>C (p.Leu1771=)
c.5326T>C (p.Leu1776=)
c.4900T>C (p.Leu1634=)
1g.169529716A>TCA343130320F5c.5311T>A (p.Leu1771Ile)
c.5326T>A (p.Leu1776Ile)
c.4900T>A (p.Leu1634Ile)
1g.169529717G>ACA421737808F5c.5310C>T (p.Val1770=)
c.5325C>T (p.Val1775=)
c.4899C>T (p.Val1633=)
1g.169529717G>CCA421737804F5c.5310C>G (p.Val1770=)
c.5325C>G (p.Val1775=)
c.4899C>G (p.Val1633=)
 gnomAD v4
1g.169529717G>TCA421737806F5c.5310C>A (p.Val1770=)
c.5325C>A (p.Val1775=)
c.4899C>A (p.Val1633=)
1g.169529718A>CCA343130325F5c.5309T>G (p.Val1770Gly)
c.5324T>G (p.Val1775Gly)
c.4898T>G (p.Val1633Gly)
1g.169529718A>GCA343130335F5c.5309T>C (p.Val1770Ala)
c.5324T>C (p.Val1775Ala)
c.4898T>C (p.Val1633Ala)
 gnomAD v4
1g.169529718A>TCA343130332F5c.5309T>A (p.Val1770Asp)
c.5324T>A (p.Val1775Asp)
c.4898T>A (p.Val1633Asp)
1g.169529719C>ACA343130341F5c.5308G>T (p.Val1770Phe)
c.5323G>T (p.Val1775Phe)
c.4897G>T (p.Val1633Phe)
1g.169529719C=CA1144019452F5c.5308G= (p.Val1770=)
c.5323G= (p.Val1775=)
c.4897G= (p.Val1633=)
1g.169529719C>GCA343130344F5c.5308G>C (p.Val1770Leu)
c.5323G>C (p.Val1775Leu)
c.4897G>C (p.Val1633Leu)
 gnomAD v4
1g.169529719C>TCA10608704F5c.5308G>A (p.Val1770Ile)
c.5323G>A (p.Val1775Ile)
c.4897G>A (p.Val1633Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169529720A>CCA343130345F5c.5307T>G (p.Phe1769Leu)
c.5322T>G (p.Phe1774Leu)
c.4896T>G (p.Phe1632Leu)
1g.169529720A>GCA421737817F5c.5307T>C (p.Phe1769=)
c.5322T>C (p.Phe1774=)
c.4896T>C (p.Phe1632=)
1g.169529720A>TCA343130346F5c.5307T>A (p.Phe1769Leu)
c.5322T>A (p.Phe1774Leu)
c.4896T>A (p.Phe1632Leu)
1g.169529721A=CA1206135829F5c.5306T= (p.Phe1769=)
c.5321T= (p.Phe1774=)
c.4895T= (p.Phe1632=)
1g.169529721A>CCA343130347F5c.5306T>G (p.Phe1769Cys)
c.5321T>G (p.Phe1774Cys)
c.4895T>G (p.Phe1632Cys)
1g.169529721A>GCA343130357F5c.5306T>C (p.Phe1769Ser)
c.5321T>C (p.Phe1774Ser)
c.4895T>C (p.Phe1632Ser)
 dbSNP gnomAD v4
1g.169529721A>TCA343130354F5c.5306T>A (p.Phe1769Tyr)
c.5321T>A (p.Phe1774Tyr)
c.4895T>A (p.Phe1632Tyr)
1g.169529722A>CCA343130361F5c.5305T>G (p.Phe1769Val)
c.5320T>G (p.Phe1774Val)
c.4894T>G (p.Phe1632Val)
1g.169529722A>GCA343130370F5c.5305T>C (p.Phe1769Leu)
c.5320T>C (p.Phe1774Leu)
c.4894T>C (p.Phe1632Leu)
1g.169529722A>TCA343130364F5c.5305T>A (p.Phe1769Ile)
c.5320T>A (p.Phe1774Ile)
c.4894T>A (p.Phe1632Ile)
1g.169529723T>ACA343130379F5c.5304A>T (p.Glu1768Asp)
c.5319A>T (p.Glu1773Asp)
c.4893A>T (p.Glu1631Asp)
1g.169529723T>CCA421737836F5c.5304A>G (p.Glu1768=)
c.5319A>G (p.Glu1773=)
c.4893A>G (p.Glu1631=)
1g.169529723T>GCA343130381F5c.5304A>C (p.Glu1768Asp)
c.5319A>C (p.Glu1773Asp)
c.4893A>C (p.Glu1631Asp)
1g.169529724T>ACA343130384F5c.5303A>T (p.Glu1768Val)
c.5318A>T (p.Glu1773Val)
c.4892A>T (p.Glu1631Val)
1g.169529724T>CCA343130387F5c.5303A>G (p.Glu1768Gly)
c.5318A>G (p.Glu1773Gly)
c.4892A>G (p.Glu1631Gly)
1g.169529724T>GCA343130388F5c.5303A>C (p.Glu1768Ala)
c.5318A>C (p.Glu1773Ala)
c.4892A>C (p.Glu1631Ala)
1g.169529728_169529729delCA2557592391F5c.5302_5303del (p.Glu1768IlefsTer9)
c.5317_5318del (p.Glu1773IlefsTer9)
c.4891_4892del (p.Glu1631IlefsTer9)
1g.169529725C>ACA343130389F5c.5302G>T (p.Glu1768Ter)
c.5317G>T (p.Glu1773Ter)
c.4891G>T (p.Glu1631Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.169529725C=CA1206135830F5c.5302G= (p.Glu1768=)
c.5317G= (p.Glu1773=)
c.4891G= (p.Glu1631=)
1g.169529725C>GCA343130390F5c.5302G>C (p.Glu1768Gln)
c.5317G>C (p.Glu1773Gln)
c.4891G>C (p.Glu1631Gln)
1g.169529725C>TCA343130393F5c.5302G>A (p.Glu1768Lys)
c.5317G>A (p.Glu1773Lys)
c.4891G>A (p.Glu1631Lys)
1g.169529726T>ACA343130414F5c.5301A>T (p.Arg1767Ser)
c.5316A>T (p.Arg1772Ser)
c.4890A>T (p.Arg1630Ser)
1g.169529726T>CCA421737856F5c.5301A>G (p.Arg1767=)
c.5316A>G (p.Arg1772=)
c.4890A>G (p.Arg1630=)
1g.169529726T>GCA343130418F5c.5301A>C (p.Arg1767Ser)
c.5316A>C (p.Arg1772Ser)
c.4890A>C (p.Arg1630Ser)
1g.169529727C>ACA343130424F5c.5300G>T (p.Arg1767Ile)
c.5315G>T (p.Arg1772Ile)
c.4889G>T (p.Arg1630Ile)
1g.169529727C>GCA343130429F5c.5300G>C (p.Arg1767Thr)
c.5315G>C (p.Arg1772Thr)
c.4889G>C (p.Arg1630Thr)
1g.169529727C>TCA343130431F5c.5300G>A (p.Arg1767Lys)
c.5315G>A (p.Arg1772Lys)
c.4889G>A (p.Arg1630Lys)
1g.169529728T>ACA343130443F5c.5299A>T (p.Arg1767Ter)
c.5314A>T (p.Arg1772Ter)
c.4888A>T (p.Arg1630Ter)
1g.169529728T>CCA343130437F5c.5299A>G (p.Arg1767Gly)
c.5314A>G (p.Arg1772Gly)
c.4888A>G (p.Arg1630Gly)
1g.169529728T>GCA421737867F5c.5299A>C (p.Arg1767=)
c.5314A>C (p.Arg1772=)
c.4888A>C (p.Arg1630=)
1g.169529729C>ACA343130451F5c.5298G>T (p.Met1766Ile)
c.5313G>T (p.Met1771Ile)
c.4887G>T (p.Met1629Ile)
1g.169529729C=CA1206135831F5c.5298G= (p.Met1766=)
c.5313G= (p.Met1771=)
c.4887G= (p.Met1629=)
1g.169529729C>GCA343130452F5c.5298G>C (p.Met1766Ile)
c.5313G>C (p.Met1771Ile)
c.4887G>C (p.Met1629Ile)
1g.169529729C>TCA1233527F5c.5298G>A (p.Met1766Ile)
c.5313G>A (p.Met1771Ile)
c.4887G>A (p.Met1629Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529730A>CCA343130459F5c.5297T>G (p.Met1766Arg)
c.5312T>G (p.Met1771Arg)
c.4886T>G (p.Met1629Arg)
1g.169529730A>GCA343130463F5c.5297T>C (p.Met1766Thr)
c.5312T>C (p.Met1771Thr)
c.4886T>C (p.Met1629Thr)
1g.169529730A>TCA343130464F5c.5297T>A (p.Met1766Lys)
c.5312T>A (p.Met1771Lys)
c.4886T>A (p.Met1629Lys)
1g.169529731T>ACA343130466F5c.5296A>T (p.Met1766Leu)
c.5311A>T (p.Met1771Leu)
c.4885A>T (p.Met1629Leu)
1g.169529731T>CCA343130468F5c.5296A>G (p.Met1766Val)
c.5311A>G (p.Met1771Val)
c.4885A>G (p.Met1629Val)
 gnomAD v4
1g.169529731T>GCA343130472F5c.5296A>C (p.Met1766Leu)
c.5311A>C (p.Met1771Leu)
c.4885A>C (p.Met1629Leu)
 dbSNP
1g.169529731T=CA1206135832F5c.5296A= (p.Met1766=)
c.5311A= (p.Met1771=)
c.4885A= (p.Met1629=)
1g.169529732G>ACA421737877F5c.5295C>T (p.Asp1765=)
c.5310C>T (p.Asp1770=)
c.4884C>T (p.Asp1628=)
 dbSNP gnomAD v4
1g.169529732G>CCA343130480F5c.5295C>G (p.Asp1765Glu)
c.5310C>G (p.Asp1770Glu)
c.4884C>G (p.Asp1628Glu)
1g.169529732G=CA1206135833F5c.5295C= (p.Asp1765=)
c.5310C= (p.Asp1770=)
c.4884C= (p.Asp1628=)
1g.169529732G>TCA343130482F5c.5295C>A (p.Asp1765Glu)
c.5310C>A (p.Asp1770Glu)
c.4884C>A (p.Asp1628Glu)
1g.169529733T>ACA343130492F5c.5294A>T (p.Asp1765Val)
c.5309A>T (p.Asp1770Val)
c.4883A>T (p.Asp1628Val)
 gnomAD v4
1g.169529733T>CCA343130501F5c.5294A>G (p.Asp1765Gly)
c.5309A>G (p.Asp1770Gly)
c.4883A>G (p.Asp1628Gly)
1g.169529733T>GCA343130489F5c.5294A>C (p.Asp1765Ala)
c.5309A>C (p.Asp1770Ala)
c.4883A>C (p.Asp1628Ala)
1g.169529734C>ACA343130509F5c.5293G>T (p.Asp1765Tyr)
c.5308G>T (p.Asp1770Tyr)
c.4882G>T (p.Asp1628Tyr)
1g.169529734C>GCA343130516F5c.5293G>C (p.Asp1765His)
c.5308G>C (p.Asp1770His)
c.4882G>C (p.Asp1628His)
 gnomAD v4
1g.169529734C>TCA343130518F5c.5293G>A (p.Asp1765Asn)
c.5308G>A (p.Asp1770Asn)
c.4882G>A (p.Asp1628Asn)
1g.169529735C>ACA343130528F5c.5292G>T (p.Met1764Ile)
c.5307G>T (p.Met1769Ile)
c.4881G>T (p.Met1627Ile)
1g.169529735C>GCA343130533F5c.5292G>C (p.Met1764Ile)
c.5307G>C (p.Met1769Ile)
c.4881G>C (p.Met1627Ile)
1g.169529735C>TCA343130538F5c.5292G>A (p.Met1764Ile)
c.5307G>A (p.Met1769Ile)
c.4881G>A (p.Met1627Ile)
1g.169529736A=CA1206135834F5c.5291T= (p.Met1764=)
c.5306T= (p.Met1769=)
c.4880T= (p.Met1627=)
1g.169529736A>CCA343130543F5c.5291T>G (p.Met1764Arg)
c.5306T>G (p.Met1769Arg)
c.4880T>G (p.Met1627Arg)
1g.169529736A>GCA343130550F5c.5291T>C (p.Met1764Thr)
c.5306T>C (p.Met1769Thr)
c.4880T>C (p.Met1627Thr)
 dbSNP gnomAD v2
1g.169529736A>TCA343130554F5c.5291T>A (p.Met1764Lys)
c.5306T>A (p.Met1769Lys)
c.4880T>A (p.Met1627Lys)
1g.169529737T>ACA343130555F5c.5290A>T (p.Met1764Leu)
c.5305A>T (p.Met1769Leu)
c.4879A>T (p.Met1627Leu)
1g.169529737T>CCA1233528F5c.5290A>G (p.Met1764Val)
c.5305A>G (p.Met1769Val)
c.4879A>G (p.Met1627Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529737T>GCA343130558F5c.5290A>C (p.Met1764Leu)
c.5305A>C (p.Met1769Leu)
c.4879A>C (p.Met1627Leu)
1g.169529737T=CA1139773084F5c.5290A= (p.Met1764=)
c.5305A= (p.Met1769=)
c.4879A= (p.Met1627=)
1g.169529738A>CCA421737883F5c.5289T>G (p.Pro1763=)
c.5304T>G (p.Pro1768=)
c.4878T>G (p.Pro1626=)
1g.169529738A>GCA421737882F5c.5289T>C (p.Pro1763=)
c.5304T>C (p.Pro1768=)
c.4878T>C (p.Pro1626=)
1g.169529738A>TCA421737884F5c.5289T>A (p.Pro1763=)
c.5304T>A (p.Pro1768=)
c.4878T>A (p.Pro1626=)
1g.169529739G>ACA343130572F5c.5288C>T (p.Pro1763Leu)
c.5303C>T (p.Pro1768Leu)
c.4877C>T (p.Pro1626Leu)
 gnomAD v4
1g.169529739G>CCA343130567F5c.5288C>G (p.Pro1763Arg)
c.5303C>G (p.Pro1768Arg)
c.4877C>G (p.Pro1626Arg)
1g.169529739G>TCA343130568F5c.5288C>A (p.Pro1763His)
c.5303C>A (p.Pro1768His)
c.4877C>A (p.Pro1626His)
1g.169529740delCA2574085084F5c.5288del (p.Pro1763LeufsTer4)
c.5303del (p.Pro1768LeufsTer4)
c.4877del (p.Pro1626LeufsTer4)
1g.169529740G>ACA343130573F5c.5287C>T (p.Pro1763Ser)
c.5302C>T (p.Pro1768Ser)
c.4876C>T (p.Pro1626Ser)
1g.169529740G>CCA343130574F5c.5287C>G (p.Pro1763Ala)
c.5302C>G (p.Pro1768Ala)
c.4876C>G (p.Pro1626Ala)
1g.169529740G>TCA343130578F5c.5287C>A (p.Pro1763Thr)
c.5302C>A (p.Pro1768Thr)
c.4876C>A (p.Pro1626Thr)
1g.169529741C>ACA343130587F5c.5286G>T (p.Met1762Ile)
c.5301G>T (p.Met1767Ile)
c.4875G>T (p.Met1625Ile)
 gnomAD v4
1g.169529741C>GCA343130594F5c.5286G>C (p.Met1762Ile)
c.5301G>C (p.Met1767Ile)
c.4875G>C (p.Met1625Ile)
1g.169529741C>TCA343130598F5c.5286G>A (p.Met1762Ile)
c.5301G>A (p.Met1767Ile)
c.4875G>A (p.Met1625Ile)
1g.169529742A=CA1144493846F5c.5285T= (p.Met1762=)
c.5300T= (p.Met1767=)
c.4874T= (p.Met1625=)
1g.169529742A>CCA343130604F5c.5285T>G (p.Met1762Arg)
c.5300T>G (p.Met1767Arg)
c.4874T>G (p.Met1625Arg)
1g.169529742A>GCA1233529F5c.5285T>C (p.Met1762Thr)
c.5300T>C (p.Met1767Thr)
c.4874T>C (p.Met1625Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529742A>TCA1233530F5c.5285T>A (p.Met1762Lys)
c.5300T>A (p.Met1767Lys)
c.4874T>A (p.Met1625Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3
1g.169529743T>ACA343130636F5c.5284A>T (p.Met1762Leu)
c.5299A>T (p.Met1767Leu)
c.4873A>T (p.Met1625Leu)
1g.169529743T>CCA343130643F5c.5284A>G (p.Met1762Val)
c.5299A>G (p.Met1767Val)
c.4873A>G (p.Met1625Val)
 dbSNP
1g.169529743T>GCA343130647F5c.5284A>C (p.Met1762Leu)
c.5299A>C (p.Met1767Leu)
c.4873A>C (p.Met1625Leu)
 dbSNP
1g.169529743T=CA1206135835F5c.5284A= (p.Met1762=)
c.5299A= (p.Met1767=)
c.4873A= (p.Met1625=)
1g.169529744G>ACA1233531F5c.5283C>T (p.Asn1761=)
c.5298C>T (p.Asn1766=)
c.4872C>T (p.Asn1624=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529744G>CCA343130656F5c.5283C>G (p.Asn1761Lys)
c.5298C>G (p.Asn1766Lys)
c.4872C>G (p.Asn1624Lys)
1g.169529744G=CA1206135836F5c.5283C= (p.Asn1761=)
c.5298C= (p.Asn1766=)
c.4872C= (p.Asn1624=)
1g.169529744G>TCA343130650F5c.5283C>A (p.Asn1761Lys)
c.5298C>A (p.Asn1766Lys)
c.4872C>A (p.Asn1624Lys)
1g.169529745T>ACA343130658F5c.5282A>T (p.Asn1761Ile)
c.5297A>T (p.Asn1766Ile)
c.4871A>T (p.Asn1624Ile)
1g.169529745T>CCA343130690F5c.5282A>G (p.Asn1761Ser)
c.5297A>G (p.Asn1766Ser)
c.4871A>G (p.Asn1624Ser)
1g.169529745T>GCA343130659F5c.5282A>C (p.Asn1761Thr)
c.5297A>C (p.Asn1766Thr)
c.4871A>C (p.Asn1624Thr)
1g.169529746T>ACA343130701F5c.5281A>T (p.Asn1761Tyr)
c.5296A>T (p.Asn1766Tyr)
c.4870A>T (p.Asn1624Tyr)
1g.169529746T>CCA343130703F5c.5281A>G (p.Asn1761Asp)
c.5296A>G (p.Asn1766Asp)
c.4870A>G (p.Asn1624Asp)
1g.169529746T>GCA343130705F5c.5281A>C (p.Asn1761His)
c.5296A>C (p.Asn1766His)
c.4870A>C (p.Asn1624His)
1g.169529747G>ACA421737892F5c.5280C>T (p.Ser1760=)
c.5295C>T (p.Ser1765=)
c.4869C>T (p.Ser1623=)
1g.169529747G>CCA343130710F5c.5280C>G (p.Ser1760Arg)
c.5295C>G (p.Ser1765Arg)
c.4869C>G (p.Ser1623Arg)
1g.169529747G>TCA343130716F5c.5280C>A (p.Ser1760Arg)
c.5295C>A (p.Ser1765Arg)
c.4869C>A (p.Ser1623Arg)

Number of alleles fetched