Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154904812_154905024delCA2695238084F8c.5378_5586+4del
c.5273_5481+4del
Xg.154904913A>CCA519357312F8c.5484T>G (p.Pro1828=)
c.5379T>G (p.Pro1793=)
Xg.154904913A>GCA519357314F8c.5484T>C (p.Pro1828=)
c.5379T>C (p.Pro1793=)
Xg.154904913A>TCA519357320F8c.5484T>A (p.Pro1828=)
c.5379T>A (p.Pro1793=)
Xg.154904913_154904914delinsAGCA2466828449F8c.5483_5484delinsCT (p.Pro1828=)
c.5378_5379delinsCT (p.Pro1793=)
Xg.154904914G>ACA414908724F8c.5483C>T (p.Pro1828Leu)
c.5378C>T (p.Pro1793Leu)
Xg.154904914G>CCA414908725F8c.5483C>G (p.Pro1828Arg)
c.5378C>G (p.Pro1793Arg)
Xg.154904914G>TCA414908726F8c.5483C>A (p.Pro1828His)
c.5378C>A (p.Pro1793His)
Xg.154904915delCA1139667916F8c.5483del (p.Pro1828LeufsTer?)
c.5378del (p.Pro1793LeufsTer?)
 ClinVar dbSNP
Xg.154904915G>ACA414908727F8c.5482C>T (p.Pro1828Ser)
c.5377C>T (p.Pro1793Ser)
Xg.154904915G>CCA414908728F8c.5482C>G (p.Pro1828Ala)
c.5377C>G (p.Pro1793Ala)
Xg.154904915G>TCA414908729F8c.5482C>A (p.Pro1828Thr)
c.5377C>A (p.Pro1793Thr)
 gnomAD v4
Xg.154904916C>ACA414908730F8c.5481G>T (p.Lys1827Asn)
c.5376G>T (p.Lys1792Asn)
Xg.154904916C>GCA414908731F8c.5481G>C (p.Lys1827Asn)
c.5376G>C (p.Lys1792Asn)
Xg.154904916C>TCA519357337F8c.5481G>A (p.Lys1827=)
c.5376G>A (p.Lys1792=)
Xg.154904917T>ACA414908732F8c.5480A>T (p.Lys1827Met)
c.5375A>T (p.Lys1792Met)
Xg.154904917T>CCA414908734F8c.5480A>G (p.Lys1827Arg)
c.5375A>G (p.Lys1792Arg)
Xg.154904917T>GCA414908733F8c.5480A>C (p.Lys1827Thr)
c.5375A>C (p.Lys1792Thr)
Xg.154904918delCA2695238130F8c.5480del (p.Lys1827SerfsTer?)
c.5375del (p.Lys1792SerfsTer?)
Xg.154904918T>ACA255172F8c.5479A>T (p.Lys1827Ter)
c.5374A>T (p.Lys1792Ter)
 ClinVar dbSNP
Xg.154904918T>CCA414908735F8c.5479A>G (p.Lys1827Glu)
c.5374A>G (p.Lys1792Glu)
Xg.154904918T>GCA414908736F8c.5479A>C (p.Lys1827Gln)
c.5374A>C (p.Lys1792Gln)
Xg.154904918T=CA2466828450F8c.5479A= (p.Lys1827=)
c.5374A= (p.Lys1792=)
Xg.154904919G>ACA519357355F8c.5478C>T (p.Val1826=)
c.5373C>T (p.Val1791=)
Xg.154904919G>CCA519357353F8c.5478C>G (p.Val1826=)
c.5373C>G (p.Val1791=)
Xg.154904919G>TCA519357350F8c.5478C>A (p.Val1826=)
c.5373C>A (p.Val1791=)
 gnomAD v4
Xg.154904920_154904925delCA2695238132F8c.5473_5478del (p.Phe1825_Val1826del)
c.5368_5373del (p.Phe1790_Val1791del)
Xg.154904920A>CCA414908737F8c.5477T>G (p.Val1826Gly)
c.5372T>G (p.Val1791Gly)
Xg.154904920A>GCA414908738F8c.5477T>C (p.Val1826Ala)
c.5372T>C (p.Val1791Ala)
Xg.154904920A>TCA414908739F8c.5477T>A (p.Val1826Asp)
c.5372T>A (p.Val1791Asp)
Xg.154904921C>ACA414908740F8c.5476G>T (p.Val1826Phe)
c.5371G>T (p.Val1791Phe)
 dbSNP
Xg.154904921C=CA2466828451F8c.5476G= (p.Val1826=)
c.5371G= (p.Val1791=)
Xg.154904921C>GCA414908741F8c.5476G>C (p.Val1826Leu)
c.5371G>C (p.Val1791Leu)
Xg.154904921C>TCA414908742F8c.5476G>A (p.Val1826Ile)
c.5371G>A (p.Val1791Ile)
Xg.154904922A=CA2466828452F8c.5475T= (p.Phe1825=)
c.5370T= (p.Phe1790=)
Xg.154904922A>CCA414908743F8c.5475T>G (p.Phe1825Leu)
c.5370T>G (p.Phe1790Leu)
Xg.154904922A>GCA519357372F8c.5475T>C (p.Phe1825=)
c.5370T>C (p.Phe1790=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154904922A>TCA414908744F8c.5475T>A (p.Phe1825Leu)
c.5370T>A (p.Phe1790Leu)
Xg.154904924dupCA2695238134F8c.5475dup (p.Val1826CysfsTer4)
c.5370dup (p.Val1791CysfsTer4)
Xg.154904923_154904924delCA2695238133F8c.5474_5475del (p.Phe1825CysfsTer4)
c.5369_5370del (p.Phe1790CysfsTer4)
Xg.154904923A>CCA414908747F8c.5474T>G (p.Phe1825Cys)
c.5369T>G (p.Phe1790Cys)
 COSMIC COSMIC
Xg.154904923A>GCA414908745F8c.5474T>C (p.Phe1825Ser)
c.5369T>C (p.Phe1790Ser)
Xg.154904923A>TCA414908746F8c.5474T>A (p.Phe1825Tyr)
c.5369T>A (p.Phe1790Tyr)
Xg.154904924A>CCA414908748F8c.5473T>G (p.Phe1825Val)
c.5368T>G (p.Phe1790Val)
 gnomAD v4
Xg.154904924A>GCA414908749F8c.5473T>C (p.Phe1825Leu)
c.5368T>C (p.Phe1790Leu)
Xg.154904924A>TCA414908750F8c.5473T>A (p.Phe1825Ile)
c.5368T>A (p.Phe1790Ile)
Xg.154904925G>ACA519357387F8c.5472C>T (p.Asn1824=)
c.5367C>T (p.Asn1789=)
 gnomAD v4
Xg.154904925G>CCA414908751F8c.5472C>G (p.Asn1824Lys)
c.5367C>G (p.Asn1789Lys)
Xg.154904925G=CA2466828453F8c.5472C= (p.Asn1824=)
c.5367C= (p.Asn1789=)
Xg.154904925G>TCA414908752F8c.5472C>A (p.Asn1824Lys)
c.5367C>A (p.Asn1789Lys)
Xg.154904926T>ACA414908753F8c.5471A>T (p.Asn1824Ile)
c.5366A>T (p.Asn1789Ile)
 COSMIC COSMIC
Xg.154904926T>CCA414908754F8c.5471A>G (p.Asn1824Ser)
c.5366A>G (p.Asn1789Ser)
Xg.154904926T>GCA10567968F8c.5471A>C (p.Asn1824Thr)
c.5366A>C (p.Asn1789Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904926T=CA2466828454F8c.5471A= (p.Asn1824=)
c.5366A= (p.Asn1789=)
Xg.154904931dupCA645614554F8c.5471dup (p.Asn1824LysfsTer6)
c.5366dup (p.Asn1789LysfsTer6)
 dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.154904931delCA2695238135F8c.5471del (p.Asn1824ThrfsTer?)
c.5366del (p.Asn1789ThrfsTer?)
Xg.154904927T>ACA414908755F8c.5470A>T (p.Asn1824Tyr)
c.5365A>T (p.Asn1789Tyr)
Xg.154904927T>CCA414908756F8c.5470A>G (p.Asn1824Asp)
c.5365A>G (p.Asn1789Asp)
Xg.154904927T>GCA414908757F8c.5470A>C (p.Asn1824His)
c.5365A>C (p.Asn1789His)
 dbSNP gnomAD v4
Xg.154904927T=CA2466828455F8c.5470A= (p.Asn1824=)
c.5365A= (p.Asn1789=)
Xg.154904928T>ACA414908759F8c.5469A>T (p.Lys1823Asn)
c.5364A>T (p.Lys1788Asn)
Xg.154904928T>CCA519357403F8c.5469A>G (p.Lys1823=)
c.5364A>G (p.Lys1788=)
Xg.154904928T>GCA414908758F8c.5469A>C (p.Lys1823Asn)
c.5364A>C (p.Lys1788Asn)
Xg.154904929T>ACA414908760F8c.5468A>T (p.Lys1823Ile)
c.5363A>T (p.Lys1788Ile)
Xg.154904929T>CCA414908762F8c.5468A>G (p.Lys1823Arg)
c.5363A>G (p.Lys1788Arg)
Xg.154904929T>GCA414908761F8c.5468A>C (p.Lys1823Thr)
c.5363A>C (p.Lys1788Thr)
Xg.154904930T>ACA414908763F8c.5467A>T (p.Lys1823Ter)
c.5362A>T (p.Lys1788Ter)
Xg.154904930T>CCA10567969F8c.5467A>G (p.Lys1823Glu)
c.5362A>G (p.Lys1788Glu)
 dbSNP ExAC gnomAD v4
Xg.154904930T>GCA414908764F8c.5467A>C (p.Lys1823Gln)
c.5362A>C (p.Lys1788Gln)
Xg.154904930T=CA2466828456F8c.5467A= (p.Lys1823=)
c.5362A= (p.Lys1788=)
Xg.154904931T>ACA414908765F8c.5466A>T (p.Arg1822Ser)
c.5361A>T (p.Arg1787Ser)
Xg.154904931T>CCA519357417F8c.5466A>G (p.Arg1822=)
c.5361A>G (p.Arg1787=)
 dbSNP gnomAD v4
Xg.154904931T>GCA414908766F8c.5466A>C (p.Arg1822Ser)
c.5361A>C (p.Arg1787Ser)
Xg.154904931T=CA2466828457F8c.5466A= (p.Arg1822=)
c.5361A= (p.Arg1787=)
Xg.154904932C>ACA414908767F8c.5465G>T (p.Arg1822Ile)
c.5360G>T (p.Arg1787Ile)
Xg.154904932C>GCA414908768F8c.5465G>C (p.Arg1822Thr)
c.5360G>C (p.Arg1787Thr)
Xg.154904932C>TCA414908769F8c.5465G>A (p.Arg1822Lys)
c.5360G>A (p.Arg1787Lys)
Xg.154904932_154904933insACA519357427F8c.5464_5465insT (p.Arg1822MetfsTer8)
c.5359_5360insT (p.Arg1787MetfsTer8)
Xg.154904933delCA2695238138F8c.5464del (p.Arg1822GlufsTer?)
c.5359del (p.Arg1787GlufsTer?)
Xg.154904933T>ACA414908770F8c.5464A>T (p.Arg1822Ter)
c.5359A>T (p.Arg1787Ter)
Xg.154904933T>CCA414908771F8c.5464A>G (p.Arg1822Gly)
c.5359A>G (p.Arg1787Gly)
Xg.154904933T>GCA519357433F8c.5464A>C (p.Arg1822=)
c.5359A>C (p.Arg1787=)
Xg.154904934A=CA2466828458F8c.5463T= (p.Pro1821=)
c.5358T= (p.Pro1786=)
Xg.154904934A>CCA519357444F8c.5463T>G (p.Pro1821=)
c.5358T>G (p.Pro1786=)
Xg.154904934A>GCA519357441F8c.5463T>C (p.Pro1821=)
c.5358T>C (p.Pro1786=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904934A>TCA519357438F8c.5463T>A (p.Pro1821=)
c.5358T>A (p.Pro1786=)
Xg.154904935G>ACA10567970F8c.5462C>T (p.Pro1821Leu)
c.5357C>T (p.Pro1786Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154904935G>CCA414908772F8c.5462C>G (p.Pro1821Arg)
c.5357C>G (p.Pro1786Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.154904935G=CA2466828459F8c.5462C= (p.Pro1821=)
c.5357C= (p.Pro1786=)
Xg.154904935G>TCA414908773F8c.5462C>A (p.Pro1821His)
c.5357C>A (p.Pro1786His)
Xg.154904936G>ACA414908774F8c.5461C>T (p.Pro1821Ser)
c.5356C>T (p.Pro1786Ser)
Xg.154904936G>CCA414908775F8c.5461C>G (p.Pro1821Ala)
c.5356C>G (p.Pro1786Ala)
Xg.154904936G>TCA414908776F8c.5461C>A (p.Pro1821Thr)
c.5356C>A (p.Pro1786Thr)
 gnomAD v4 COSMIC COSMIC
Xg.154904937T>ACA414908777F8c.5460A>T (p.Glu1820Asp)
c.5355A>T (p.Glu1785Asp)
Xg.154904937T>CCA519357454F8c.5460A>G (p.Glu1820=)
c.5355A>G (p.Glu1785=)
Xg.154904937T>GCA414908778F8c.5460A>C (p.Glu1820Asp)
c.5355A>C (p.Glu1785Asp)
Xg.154904938delCA2695238139F8c.5460del (p.Glu1820AspfsTer?)
c.5355del (p.Glu1785AspfsTer?)
Xg.154904938T>ACA414908779F8c.5459A>T (p.Glu1820Val)
c.5354A>T (p.Glu1785Val)
Xg.154904938T>CCA414908781F8c.5459A>G (p.Glu1820Gly)
c.5354A>G (p.Glu1785Gly)
Xg.154904938T>GCA414908780F8c.5459A>C (p.Glu1820Ala)
c.5354A>C (p.Glu1785Ala)
Xg.154904939C>ACA414908782F8c.5458G>T (p.Glu1820Ter)
c.5353G>T (p.Glu1785Ter)
Xg.154904939C>GCA414908783F8c.5458G>C (p.Glu1820Gln)
c.5353G>C (p.Glu1785Gln)
Xg.154904939C>TCA414908784F8c.5458G>A (p.Glu1820Lys)
c.5353G>A (p.Glu1785Lys)
Xg.154904940T>ACA519357459F8c.5457A>T (p.Ala1819=)
c.5352A>T (p.Ala1784=)
Xg.154904940T>CCA519357464F8c.5457A>G (p.Ala1819=)
c.5352A>G (p.Ala1784=)
 gnomAD v4
Xg.154904940T>GCA519357461F8c.5457A>C (p.Ala1819=)
c.5352A>C (p.Ala1784=)
Xg.154904941G>ACA414908785F8c.5456C>T (p.Ala1819Val)
c.5351C>T (p.Ala1784Val)
Xg.154904941G>CCA414908786F8c.5456C>G (p.Ala1819Gly)
c.5351C>G (p.Ala1784Gly)
Xg.154904941G>TCA414908787F8c.5456C>A (p.Ala1819Glu)
c.5351C>A (p.Ala1784Glu)
Xg.154904942C>ACA414908788F8c.5455G>T (p.Ala1819Ser)
c.5350G>T (p.Ala1784Ser)
Xg.154904942C>GCA414908789F8c.5455G>C (p.Ala1819Pro)
c.5350G>C (p.Ala1784Pro)
Xg.154904942C>TCA414908790F8c.5455G>A (p.Ala1819Thr)
c.5350G>A (p.Ala1784Thr)
 gnomAD v4
Xg.154904943_154904944dupCA2695238141F8c.5454_5455dup (p.Ala1819GlufsTer?)
c.5349_5350dup (p.Ala1784GlufsTer?)
Xg.154904943T>ACA519357477F8c.5454A>T (p.Gly1818=)
c.5349A>T (p.Gly1783=)
Xg.154904943T>CCA519357478F8c.5454A>G (p.Gly1818=)
c.5349A>G (p.Gly1783=)
Xg.154904943T>GCA519357480F8c.5454A>C (p.Gly1818=)
c.5349A>C (p.Gly1783=)
Xg.154904944C>ACA414908791F8c.5453G>T (p.Gly1818Val)
c.5348G>T (p.Gly1783Val)
Xg.154904944C=CA2466828460F8c.5453G= (p.Gly1818=)
c.5348G= (p.Gly1783=)
Xg.154904944C>GCA414908793F8c.5453G>C (p.Gly1818Ala)
c.5348G>C (p.Gly1783Ala)
Xg.154904944C>TCA414908792F8c.5453G>A (p.Gly1818Glu)
c.5348G>A (p.Gly1783Glu)
 dbSNP
Xg.154904945dupCA2825002936F8c.5453dup (p.Ala1819SerfsTer4)
c.5348dup (p.Ala1784SerfsTer4)
 ClinVar
Xg.154904944_154905247delinsACA2580612537F8c.5374-224_5453delinsT
c.5269-224_5348delinsT
 ClinVar
Xg.154904945C>ACA414908794F8c.5452G>T (p.Gly1818Ter)
c.5347G>T (p.Gly1783Ter)
Xg.154904945C>GCA414908795F8c.5452G>C (p.Gly1818Arg)
c.5347G>C (p.Gly1783Arg)
Xg.154904945C>TCA414908796F8c.5452G>A (p.Gly1818Arg)
c.5347G>A (p.Gly1783Arg)
Xg.154904946T>ACA414908797F8c.5451A>T (p.Gln1817His)
c.5346A>T (p.Gln1782His)
Xg.154904946T>CCA519357496F8c.5451A>G (p.Gln1817=)
c.5346A>G (p.Gln1782=)
Xg.154904946T>GCA414908798F8c.5451A>C (p.Gln1817His)
c.5346A>C (p.Gln1782His)
Xg.154904947T>ACA414908799F8c.5450A>T (p.Gln1817Leu)
c.5345A>T (p.Gln1782Leu)
Xg.154904947T>CCA414908800F8c.5450A>G (p.Gln1817Arg)
c.5345A>G (p.Gln1782Arg)
Xg.154904947T>GCA414908801F8c.5450A>C (p.Gln1817Pro)
c.5345A>C (p.Gln1782Pro)
Xg.154904948G>ACA414908802F8c.5449C>T (p.Gln1817Ter)
c.5344C>T (p.Gln1782Ter)
 ClinVar dbSNP
Xg.154904948G>CCA414908803F8c.5449C>G (p.Gln1817Glu)
c.5344C>G (p.Gln1782Glu)
Xg.154904948G>TCA414908804F8c.5449C>A (p.Gln1817Lys)
c.5344C>A (p.Gln1782Lys)
Xg.154904949C>ACA414908805F8c.5448G>T (p.Arg1816Ser)
c.5343G>T (p.Arg1781Ser)
 dbSNP
Xg.154904949C=CA2466828461F8c.5448G= (p.Arg1816=)
c.5343G= (p.Arg1781=)
Xg.154904949C>GCA414908806F8c.5448G>C (p.Arg1816Ser)
c.5343G>C (p.Arg1781Ser)
Xg.154904949C>TCA519357511F8c.5448G>A (p.Arg1816=)
c.5343G>A (p.Arg1781=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154904950C>ACA414908807F8c.5447G>T (p.Arg1816Met)
c.5342G>T (p.Arg1781Met)
Xg.154904950C>GCA414908808F8c.5447G>C (p.Arg1816Thr)
c.5342G>C (p.Arg1781Thr)
Xg.154904950C>TCA414908809F8c.5447G>A (p.Arg1816Lys)
c.5342G>A (p.Arg1781Lys)
Xg.154904951T>ACA414908810F8c.5446A>T (p.Arg1816Trp)
c.5341A>T (p.Arg1781Trp)
Xg.154904951T>CCA414908811F8c.5446A>G (p.Arg1816Gly)
c.5341A>G (p.Arg1781Gly)
Xg.154904951T>GCA519357524F8c.5446A>C (p.Arg1816=)
c.5341A>C (p.Arg1781=)
Xg.154904952C>ACA414908812F8c.5445G>T (p.Gln1815His)
c.5340G>T (p.Gln1780His)
Xg.154904952C>GCA414908813F8c.5445G>C (p.Gln1815His)
c.5340G>C (p.Gln1780His)
Xg.154904952C>TCA519357529F8c.5445G>A (p.Gln1815=)
c.5340G>A (p.Gln1780=)
Xg.154904953T>ACA414908814F8c.5444A>T (p.Gln1815Leu)
c.5339A>T (p.Gln1780Leu)
Xg.154904953T>CCA414908815F8c.5444A>G (p.Gln1815Arg)
c.5339A>G (p.Gln1780Arg)
 dbSNP
Xg.154904953T>GCA414908816F8c.5444A>C (p.Gln1815Pro)
c.5339A>C (p.Gln1780Pro)
Xg.154904953T=CA2466828462F8c.5444A= (p.Gln1815=)
c.5339A= (p.Gln1780=)
Xg.154904954G>ACA255167F8c.5443C>T (p.Gln1815Ter)
c.5338C>T (p.Gln1780Ter)
 ClinVar dbSNP
Xg.154904954G>CCA414908818F8c.5443C>G (p.Gln1815Glu)
c.5338C>G (p.Gln1780Glu)
Xg.154904954G=CA2466828463F8c.5443C= (p.Gln1815=)
c.5338C= (p.Gln1780=)
Xg.154904954G>TCA414908817F8c.5443C>A (p.Gln1815Lys)
c.5338C>A (p.Gln1780Lys)
Xg.154904955A>CCA414908820F8c.5442T>G (p.Asp1814Glu)
c.5337T>G (p.Asp1779Glu)
Xg.154904955A>GCA519357543F8c.5442T>C (p.Asp1814=)
c.5337T>C (p.Asp1779=)
Xg.154904955A>TCA414908819F8c.5442T>A (p.Asp1814Glu)
c.5337T>A (p.Asp1779Glu)
Xg.154904956T>ACA414908821F8c.5441A>T (p.Asp1814Val)
c.5336A>T (p.Asp1779Val)
 ClinVar dbSNP
Xg.154904956T>CCA414908822F8c.5441A>G (p.Asp1814Gly)
c.5336A>G (p.Asp1779Gly)
 COSMIC COSMIC
Xg.154904956T>GCA414908823F8c.5441A>C (p.Asp1814Ala)
c.5336A>C (p.Asp1779Ala)
Xg.154904956T=CA2466828464F8c.5441A= (p.Asp1814=)
c.5336A= (p.Asp1779=)
Xg.154904957C>ACA414908824F8c.5440G>T (p.Asp1814Tyr)
c.5335G>T (p.Asp1779Tyr)
Xg.154904957C>GCA414908825F8c.5440G>C (p.Asp1814His)
c.5335G>C (p.Asp1779His)
Xg.154904957C>TCA414908826F8c.5440G>A (p.Asp1814Asn)
c.5335G>A (p.Asp1779Asn)
Xg.154904958T>ACA414908827F8c.5439A>T (p.Glu1813Asp)
c.5334A>T (p.Glu1778Asp)
Xg.154904958T>CCA519357559F8c.5439A>G (p.Glu1813=)
c.5334A>G (p.Glu1778=)
Xg.154904958T>GCA414908828F8c.5439A>C (p.Glu1813Asp)
c.5334A>C (p.Glu1778Asp)
Xg.154904959T>ACA414908830F8c.5438A>T (p.Glu1813Val)
c.5333A>T (p.Glu1778Val)
Xg.154904959T>CCA414908831F8c.5438A>G (p.Glu1813Gly)
c.5333A>G (p.Glu1778Gly)
Xg.154904959T>GCA414908832F8c.5438A>C (p.Glu1813Ala)
c.5333A>C (p.Glu1778Ala)
Xg.154904960C>ACA414908835F8c.5437G>T (p.Glu1813Ter)
c.5332G>T (p.Glu1778Ter)
Xg.154904960C>GCA414908833F8c.5437G>C (p.Glu1813Gln)
c.5332G>C (p.Glu1778Gln)
Xg.154904960C>TCA414908834F8c.5437G>A (p.Glu1813Lys)
c.5332G>A (p.Glu1778Lys)
 gnomAD v4
Xg.154904961C>ACA414908836F8c.5436G>T (p.Glu1812Asp)
c.5331G>T (p.Glu1777Asp)
Xg.154904961C>GCA414908837F8c.5436G>C (p.Glu1812Asp)
c.5331G>C (p.Glu1777Asp)
Xg.154904961C>TCA519357572F8c.5436G>A (p.Glu1812=)
c.5331G>A (p.Glu1777=)
 COSMIC COSMIC
Xg.154904962T>ACA414908838F8c.5435A>T (p.Glu1812Val)
c.5330A>T (p.Glu1777Val)
Xg.154904962T>CCA414908839F8c.5435A>G (p.Glu1812Gly)
c.5330A>G (p.Glu1777Gly)
Xg.154904962T>GCA414908840F8c.5435A>C (p.Glu1812Ala)
c.5330A>C (p.Glu1777Ala)
Xg.154904963C>ACA414908841F8c.5434G>T (p.Glu1812Ter)
c.5329G>T (p.Glu1777Ter)
 dbSNP
Xg.154904963C=CA2466828465F8c.5434G= (p.Glu1812=)
c.5329G= (p.Glu1777=)
Xg.154904963C>GCA414908842F8c.5434G>C (p.Glu1812Gln)
c.5329G>C (p.Glu1777Gln)
Xg.154904963C>TCA10567971F8c.5434G>A (p.Glu1812Lys)
c.5329G>A (p.Glu1777Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904964A=CA2466828466F8c.5433T= (p.Tyr1811=)
c.5328T= (p.Tyr1776=)
Xg.154904964A>CCA414908843F8c.5433T>G (p.Tyr1811Ter)
c.5328T>G (p.Tyr1776Ter)
Xg.154904964A>GCA519357588F8c.5433T>C (p.Tyr1811=)
c.5328T>C (p.Tyr1776=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154904964A>TCA414908844F8c.5433T>A (p.Tyr1811Ter)
c.5328T>A (p.Tyr1776Ter)
Xg.154904965T>ACA414908848F8c.5432A>T (p.Tyr1811Phe)
c.5327A>T (p.Tyr1776Phe)
Xg.154904965T>CCA414908846F8c.5432A>G (p.Tyr1811Cys)
c.5327A>G (p.Tyr1776Cys)
Xg.154904965T>GCA414908845F8c.5432A>C (p.Tyr1811Ser)
c.5327A>C (p.Tyr1776Ser)
 gnomAD v4
Xg.154904966A>CCA414908857F8c.5431T>G (p.Tyr1811Asp)
c.5326T>G (p.Tyr1776Asp)
Xg.154904966A>GCA414908859F8c.5431T>C (p.Tyr1811His)
c.5326T>C (p.Tyr1776His)
Xg.154904966A>TCA414908861F8c.5431T>A (p.Tyr1811Asn)
c.5326T>A (p.Tyr1776Asn)
Xg.154904967A=CA2466828467F8c.5430T= (p.Ser1810=)
c.5325T= (p.Ser1775=)
Xg.154904967A>CCA10567972F8c.5430T>G (p.Ser1810=)
c.5325T>G (p.Ser1775=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904967A>GCA519357602F8c.5430T>C (p.Ser1810=)
c.5325T>C (p.Ser1775=)
Xg.154904967A>TCA519357605F8c.5430T>A (p.Ser1810=)
c.5325T>A (p.Ser1775=)
 gnomAD v4
Xg.154904968G>ACA414908868F8c.5429C>T (p.Ser1810Phe)
c.5324C>T (p.Ser1775Phe)
Xg.154904968G>CCA414908870F8c.5429C>G (p.Ser1810Cys)
c.5324C>G (p.Ser1775Cys)
Xg.154904968G>TCA414908871F8c.5429C>A (p.Ser1810Tyr)
c.5324C>A (p.Ser1775Tyr)
Xg.154904969A>CCA414908874F8c.5428T>G (p.Ser1810Ala)
c.5323T>G (p.Ser1775Ala)
Xg.154904969A>GCA414908876F8c.5428T>C (p.Ser1810Pro)
c.5323T>C (p.Ser1775Pro)
 COSMIC COSMIC
Xg.154904969A>TCA414908879F8c.5428T>A (p.Ser1810Thr)
c.5323T>A (p.Ser1775Thr)
Xg.154904971delCA2695238148F8c.5428del (p.Ser1810LeufsTer?)
c.5323del (p.Ser1775LeufsTer?)
Xg.154904970A=CA2466828468F8c.5427T= (p.Ile1809=)
c.5322T= (p.Ile1774=)
Xg.154904970A>CCA414908880F8c.5427T>G (p.Ile1809Met)
c.5322T>G (p.Ile1774Met)
Xg.154904970A>GCA10567973F8c.5427T>C (p.Ile1809=)
c.5322T>C (p.Ile1774=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154904970A>TCA519357619F8c.5427T>A (p.Ile1809=)
c.5322T>A (p.Ile1774=)
 COSMIC COSMIC
Xg.154904971A>CCA414908883F8c.5426T>G (p.Ile1809Ser)
c.5321T>G (p.Ile1774Ser)
Xg.154904971A>GCA414908881F8c.5426T>C (p.Ile1809Thr)
c.5321T>C (p.Ile1774Thr)
Xg.154904971A>TCA414908882F8c.5426T>A (p.Ile1809Asn)
c.5321T>A (p.Ile1774Asn)
Xg.154904972T>ACA414908885F8c.5425A>T (p.Ile1809Phe)
c.5320A>T (p.Ile1774Phe)
Xg.154904972T>CCA414908886F8c.5425A>G (p.Ile1809Val)
c.5320A>G (p.Ile1774Val)
 gnomAD v4
Xg.154904972T>GCA414908888F8c.5425A>C (p.Ile1809Leu)
c.5320A>C (p.Ile1774Leu)
Xg.154904973A>CCA519357631F8c.5424T>G (p.Leu1808=)
c.5319T>G (p.Leu1773=)
Xg.154904973A>GCA519357633F8c.5424T>C (p.Leu1808=)
c.5319T>C (p.Leu1773=)
Xg.154904973A>TCA519357636F8c.5424T>A (p.Leu1808=)
c.5319T>A (p.Leu1773=)
Xg.154904974A=CA2466828469F8c.5423T= (p.Leu1808=)
c.5318T= (p.Leu1773=)
Xg.154904974A>CCA414908890F8c.5423T>G (p.Leu1808Arg)
c.5318T>G (p.Leu1773Arg)
Xg.154904974A>GCA10567974F8c.5423T>C (p.Leu1808Pro)
c.5318T>C (p.Leu1773Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154904974A>TCA414908891F8c.5423T>A (p.Leu1808His)
c.5318T>A (p.Leu1773His)
Xg.154904975G>ACA255166F8c.5422C>T (p.Leu1808Phe)
c.5317C>T (p.Leu1773Phe)
 ClinVar dbSNP
Xg.154904975G>CCA414908893F8c.5422C>G (p.Leu1808Val)
c.5317C>G (p.Leu1773Val)
 gnomAD v4
Xg.154904975G=CA2466828470F8c.5422C= (p.Leu1808=)
c.5317C= (p.Leu1773=)
Xg.154904975G>TCA414908895F8c.5422C>A (p.Leu1808Ile)
c.5317C>A (p.Leu1773Ile)
 COSMIC COSMIC
Xg.154904976delCA2695238153F8c.5422del (p.Ile1809PhefsTer?)
c.5317del (p.Ile1774PhefsTer?)
Xg.154904976G>ACA519357650F8c.5421C>T (p.Ser1807=)
c.5316C>T (p.Ser1772=)
 dbSNP
Xg.154904976G>CCA414908899F8c.5421C>G (p.Ser1807Arg)
c.5316C>G (p.Ser1772Arg)
 dbSNP
Xg.154904976G=CA2466828471F8c.5421C= (p.Ser1807=)
c.5316C= (p.Ser1772=)
Xg.154904976G>TCA414908900F8c.5421C>A (p.Ser1807Arg)
c.5316C>A (p.Ser1772Arg)
Xg.154904977C>ACA414908903F8c.5420G>T (p.Ser1807Ile)
c.5315G>T (p.Ser1772Ile)
Xg.154904977C>GCA414908904F8c.5420G>C (p.Ser1807Thr)
c.5315G>C (p.Ser1772Thr)
Xg.154904977C>TCA414908902F8c.5420G>A (p.Ser1807Asn)
c.5315G>A (p.Ser1772Asn)
Xg.154904978T>ACA414908905F8c.5419A>T (p.Ser1807Cys)
c.5314A>T (p.Ser1772Cys)
Xg.154904978T>CCA414908907F8c.5419A>G (p.Ser1807Gly)
c.5314A>G (p.Ser1772Gly)
Xg.154904978T>GCA414908908F8c.5419A>C (p.Ser1807Arg)
c.5314A>C (p.Ser1772Arg)
Xg.154904979A>CCA519357662F8c.5418T>G (p.Ser1806=)
c.5313T>G (p.Ser1771=)
Xg.154904979A>GCA519357664F8c.5418T>C (p.Ser1806=)
c.5313T>C (p.Ser1771=)
Xg.154904979A>TCA519357666F8c.5418T>A (p.Ser1806=)
c.5313T>A (p.Ser1771=)
Xg.154904980G>ACA414908914F8c.5417C>T (p.Ser1806Phe)
c.5312C>T (p.Ser1771Phe)
 ClinVar dbSNP
Xg.154904980G>CCA414908915F8c.5417C>G (p.Ser1806Cys)
c.5312C>G (p.Ser1771Cys)
Xg.154904980G=CA2466828472F8c.5417C= (p.Ser1806=)
c.5312C= (p.Ser1771=)
Xg.154904980G>TCA414908918F8c.5417C>A (p.Ser1806Tyr)
c.5312C>A (p.Ser1771Tyr)
Xg.154904981A>CCA414908926F8c.5416T>G (p.Ser1806Ala)
c.5311T>G (p.Ser1771Ala)
Xg.154904981A>GCA414908920F8c.5416T>C (p.Ser1806Pro)
c.5311T>C (p.Ser1771Pro)
Xg.154904981A>TCA414908923F8c.5416T>A (p.Ser1806Thr)
c.5311T>A (p.Ser1771Thr)
Xg.154904982A>CCA414908929F8c.5415T>G (p.Tyr1805Ter)
c.5310T>G (p.Tyr1770Ter)
Xg.154904982A>GCA519357671F8c.5415T>C (p.Tyr1805=)
c.5310T>C (p.Tyr1770=)
Xg.154904982A>TCA414908930F8c.5415T>A (p.Tyr1805Ter)
c.5310T>A (p.Tyr1770Ter)
Xg.154904983T>ACA414908934F8c.5414A>T (p.Tyr1805Phe)
c.5309A>T (p.Tyr1770Phe)
 dbSNP
Xg.154904983T>CCA414908936F8c.5414A>G (p.Tyr1805Cys)
c.5309A>G (p.Tyr1770Cys)
Xg.154904983T>GCA414908939F8c.5414A>C (p.Tyr1805Ser)
c.5309A>C (p.Tyr1770Ser)
Xg.154904983T=CA2466828473F8c.5414A= (p.Tyr1805=)
c.5309A= (p.Tyr1770=)
Xg.154904984A>CCA414908943F8c.5413T>G (p.Tyr1805Asp)
c.5308T>G (p.Tyr1770Asp)
Xg.154904984A>GCA414908949F8c.5413T>C (p.Tyr1805His)
c.5308T>C (p.Tyr1770His)
Xg.154904984A>TCA414908946F8c.5413T>A (p.Tyr1805Asn)
c.5308T>A (p.Tyr1770Asn)
Xg.154904986_154904988delCA2695238157F8c.5411_5413del (p.Phe1804del)
c.5306_5308del (p.Phe1769del)
Xg.154904985G>ACA519357673F8c.5412C>T (p.Phe1804=)
c.5307C>T (p.Phe1769=)
Xg.154904985G>CCA414908954F8c.5412C>G (p.Phe1804Leu)
c.5307C>G (p.Phe1769Leu)
Xg.154904985G>TCA414908962F8c.5412C>A (p.Phe1804Leu)
c.5307C>A (p.Phe1769Leu)
Xg.154904986A>CCA414908965F8c.5411T>G (p.Phe1804Cys)
c.5306T>G (p.Phe1769Cys)
Xg.154904986A>GCA414908966F8c.5411T>C (p.Phe1804Ser)
c.5306T>C (p.Phe1769Ser)
Xg.154904986A>TCA414908968F8c.5411T>A (p.Phe1804Tyr)
c.5306T>A (p.Phe1769Tyr)
Xg.154904987A>CCA414908970F8c.5410T>G (p.Phe1804Val)
c.5305T>G (p.Phe1769Val)
Xg.154904987A>GCA414908973F8c.5410T>C (p.Phe1804Leu)
c.5305T>C (p.Phe1769Leu)
Xg.154904987A>TCA414908975F8c.5410T>A (p.Phe1804Ile)
c.5305T>A (p.Phe1769Ile)
Xg.154904988_154904990dupCA2695238159F8c.5408_5410dup (p.Ser1803_Phe1804insSer)
c.5303_5305dup (p.Ser1768_Phe1769insSer)
Xg.154904988G>ACA519357674F8c.5409C>T (p.Ser1803=)
c.5304C>T (p.Ser1768=)
Xg.154904988G>CCA519357675F8c.5409C>G (p.Ser1803=)
c.5304C>G (p.Ser1768=)
Xg.154904988G>TCA519357676F8c.5409C>A (p.Ser1803=)
c.5304C>A (p.Ser1768=)
Xg.154904989G>ACA414908976F8c.5408C>T (p.Ser1803Phe)
c.5303C>T (p.Ser1768Phe)
 dbSNP
Xg.154904989G>CCA414908977F8c.5408C>G (p.Ser1803Cys)
c.5303C>G (p.Ser1768Cys)
Xg.154904989G=CA2466828474F8c.5408C= (p.Ser1803=)
c.5303C= (p.Ser1768=)
Xg.154904989G>TCA255165F8c.5408C>A (p.Ser1803Tyr)
c.5303C>A (p.Ser1768Tyr)
 ClinVar dbSNP
Xg.154904990A>CCA414908979F8c.5407T>G (p.Ser1803Ala)
c.5302T>G (p.Ser1768Ala)
Xg.154904990A>GCA414908987F8c.5407T>C (p.Ser1803Pro)
c.5302T>C (p.Ser1768Pro)
Xg.154904990A>TCA414908981F8c.5407T>A (p.Ser1803Thr)
c.5302T>A (p.Ser1768Thr)
Xg.154904991A>CCA414908989F8c.5406T>G (p.Tyr1802Ter)
c.5301T>G (p.Tyr1767Ter)
Xg.154904991A>GCA519357679F8c.5406T>C (p.Tyr1802=)
c.5301T>C (p.Tyr1767=)
Xg.154904991A>TCA414908991F8c.5406T>A (p.Tyr1802Ter)
c.5301T>A (p.Tyr1767Ter)
Xg.154904992T>ACA414908993F8c.5405A>T (p.Tyr1802Phe)
c.5300A>T (p.Tyr1767Phe)
Xg.154904992T>CCA414909004F8c.5405A>G (p.Tyr1802Cys)
c.5300A>G (p.Tyr1767Cys)
 ClinVar gnomAD v4
Xg.154904992T>GCA414909007F8c.5405A>C (p.Tyr1802Ser)
c.5300A>C (p.Tyr1767Ser)
Xg.154904992_154904993insCCCA2695238164F8c.5404_5405insGG (p.Tyr1802TrpfsTer?)
c.5299_5300insGG (p.Tyr1767TrpfsTer?)
Xg.154904993A>CCA414909010F8c.5404T>G (p.Tyr1802Asp)
c.5299T>G (p.Tyr1767Asp)
 COSMIC COSMIC
Xg.154904993A>GCA414909013F8c.5404T>C (p.Tyr1802His)
c.5299T>C (p.Tyr1767His)
Xg.154904993A>TCA414909022F8c.5404T>A (p.Tyr1802Asn)
c.5299T>A (p.Tyr1767Asn)
Xg.154904994G>ACA519357683F8c.5403C>T (p.Pro1801=)
c.5298C>T (p.Pro1766=)
Xg.154904994G>CCA519357684F8c.5403C>G (p.Pro1801=)
c.5298C>G (p.Pro1766=)
Xg.154904994G>TCA519357685F8c.5403C>A (p.Pro1801=)
c.5298C>A (p.Pro1766=)
Xg.154904995G>ACA414909026F8c.5402C>T (p.Pro1801Leu)
c.5297C>T (p.Pro1766Leu)
Xg.154904995G>CCA414909028F8c.5402C>G (p.Pro1801Arg)
c.5297C>G (p.Pro1766Arg)
Xg.154904995G>TCA414909031F8c.5402C>A (p.Pro1801His)
c.5297C>A (p.Pro1766His)
 gnomAD v4
Xg.154904996G>ACA414909037F8c.5401C>T (p.Pro1801Ser)
c.5296C>T (p.Pro1766Ser)
 COSMIC COSMIC
Xg.154904996G>CCA414909036F8c.5401C>G (p.Pro1801Ala)
c.5296C>G (p.Pro1766Ala)
Xg.154904996G>TCA414909033F8c.5401C>A (p.Pro1801Thr)
c.5296C>A (p.Pro1766Thr)
Xg.154904997A>CCA519357688F8c.5400T>G (p.Arg1800=)
c.5295T>G (p.Arg1765=)
Xg.154904997A>GCA519357687F8c.5400T>C (p.Arg1800=)
c.5295T>C (p.Arg1765=)
Xg.154904997A>TCA519357686F8c.5400T>A (p.Arg1800=)
c.5295T>A (p.Arg1765=)
Xg.154904998C>ACA414909041F8c.5399G>T (p.Arg1800Leu)
c.5294G>T (p.Arg1765Leu)
Xg.154904998C=CA2466828475F8c.5399G= (p.Arg1800=)
c.5294G= (p.Arg1765=)
Xg.154904998C>GCA414909043F8c.5399G>C (p.Arg1800Pro)
c.5294G>C (p.Arg1765Pro)
Xg.154904998C>TCA255162F8c.5399G>A (p.Arg1800His)
c.5294G>A (p.Arg1765His)
 ClinVar dbSNP gnomAD v4
Xg.154904999G>ACA255163F8c.5398C>T (p.Arg1800Cys)
c.5293C>T (p.Arg1765Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154904999G>CCA255164F8c.5398C>G (p.Arg1800Gly)
c.5293C>G (p.Arg1765Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154904999G=CA2466828476F8c.5398C= (p.Arg1800=)
c.5293C= (p.Arg1765=)
Xg.154904999G>TCA414909044F8c.5398C>A (p.Arg1800Ser)
c.5293C>A (p.Arg1765Ser)
Xg.154905002_154905003delCA2579744567F8c.5397_5398del (p.Arg1800SerfsTer7)
c.5292_5293del (p.Arg1765SerfsTer7)
Xg.154905000A>CCA519357689F8c.5397T>G (p.Ser1799=)
c.5292T>G (p.Ser1764=)
Xg.154905000A>GCA519357690F8c.5397T>C (p.Ser1799=)
c.5292T>C (p.Ser1764=)
Xg.154905000A>TCA519357691F8c.5397T>A (p.Ser1799=)
c.5292T>A (p.Ser1764=)
Xg.154905001G>ACA414909047F8c.5396C>T (p.Ser1799Phe)
c.5291C>T (p.Ser1764Phe)
Xg.154905001G>CCA414909049F8c.5396C>G (p.Ser1799Cys)
c.5291C>G (p.Ser1764Cys)
Xg.154905001G>TCA414909051F8c.5396C>A (p.Ser1799Tyr)
c.5291C>A (p.Ser1764Tyr)
Xg.154905002A>CCA414909054F8c.5395T>G (p.Ser1799Ala)
c.5290T>G (p.Ser1764Ala)
Xg.154905002A>GCA414909056F8c.5395T>C (p.Ser1799Pro)
c.5290T>C (p.Ser1764Pro)
 gnomAD v4
Xg.154905002A>TCA414909059F8c.5395T>A (p.Ser1799Thr)
c.5290T>A (p.Ser1764Thr)
Xg.154905003G>ACA519357692F8c.5394C>T (p.Ala1798=)
c.5289C>T (p.Ala1763=)
 gnomAD v4
Xg.154905003G>CCA519357694F8c.5394C>G (p.Ala1798=)
c.5289C>G (p.Ala1763=)
Xg.154905003G>TCA519357693F8c.5394C>A (p.Ala1798=)
c.5289C>A (p.Ala1763=)
Xg.154905004G>ACA414909063F8c.5393C>T (p.Ala1798Val)
c.5288C>T (p.Ala1763Val)
Xg.154905004G>CCA414909067F8c.5393C>G (p.Ala1798Gly)
c.5288C>G (p.Ala1763Gly)
Xg.154905004G=CA2466828477F8c.5393C= (p.Ala1798=)
c.5288C= (p.Ala1763=)
Xg.154905004G>TCA414909064F8c.5393C>A (p.Ala1798Asp)
c.5288C>A (p.Ala1763Asp)
Xg.154905005C>ACA414909071F8c.5392G>T (p.Ala1798Ser)
c.5287G>T (p.Ala1763Ser)
Xg.154905005C=CA2466828479F8c.5392G= (p.Ala1798=)
c.5287G= (p.Ala1763=)
Xg.154905005C>GCA414909074F8c.5392G>C (p.Ala1798Pro)
c.5287G>C (p.Ala1763Pro)
 dbSNP
Xg.154905005C>TCA414909076F8c.5392G>A (p.Ala1798Thr)
c.5287G>A (p.Ala1763Thr)
 dbSNP gnomAD v4
Xg.154905006dupCA2466828478F8c.5392dup (p.Ala1798GlyfsTer10)
c.5287dup (p.Ala1763GlyfsTer10)
 dbSNP
Xg.154905006C>ACA414909080F8c.5391G>T (p.Gln1797His)
c.5286G>T (p.Gln1762His)
 gnomAD v4
Xg.154905006C>GCA414909081F8c.5391G>C (p.Gln1797His)
c.5286G>C (p.Gln1762His)
Xg.154905006C>TCA519357695F8c.5391G>A (p.Gln1797=)
c.5286G>A (p.Gln1762=)
Xg.154905007T>ACA414909090F8c.5390A>T (p.Gln1797Leu)
c.5285A>T (p.Gln1762Leu)
Xg.154905007T>CCA414909092F8c.5390A>G (p.Gln1797Arg)
c.5285A>G (p.Gln1762Arg)
Xg.154905007T>GCA414909093F8c.5390A>C (p.Gln1797Pro)
c.5285A>C (p.Gln1762Pro)
Xg.154905008G>ACA414909097F8c.5389C>T (p.Gln1797Ter)
c.5284C>T (p.Gln1762Ter)
Xg.154905008G>CCA414909098F8c.5389C>G (p.Gln1797Glu)
c.5284C>G (p.Gln1762Glu)
Xg.154905008G>TCA414909099F8c.5389C>A (p.Gln1797Lys)
c.5284C>A (p.Gln1762Lys)
Xg.154905009A>CCA414909101F8c.5388T>G (p.Asn1796Lys)
c.5283T>G (p.Asn1761Lys)
Xg.154905009A>GCA519357696F8c.5388T>C (p.Asn1796=)
c.5283T>C (p.Asn1761=)
 COSMIC COSMIC
Xg.154905009A>TCA414909103F8c.5388T>A (p.Asn1796Lys)
c.5283T>A (p.Asn1761Lys)
Xg.154905010T>ACA414909112F8c.5387A>T (p.Asn1796Ile)
c.5282A>T (p.Asn1761Ile)
Xg.154905010T>CCA414909107F8c.5387A>G (p.Asn1796Ser)
c.5282A>G (p.Asn1761Ser)
Xg.154905010T>GCA414909110F8c.5387A>C (p.Asn1796Thr)
c.5282A>C (p.Asn1761Thr)
Xg.154905012delCA2695238171F8c.5387del (p.Asn1796IlefsTer?)
c.5282del (p.Asn1761IlefsTer?)
Xg.154905011T>ACA414909115F8c.5386A>T (p.Asn1796Tyr)
c.5281A>T (p.Asn1761Tyr)
Xg.154905011T>CCA414909118F8c.5386A>G (p.Asn1796Asp)
c.5281A>G (p.Asn1761Asp)
 dbSNP
Xg.154905011T>GCA414909120F8c.5386A>C (p.Asn1796His)
c.5281A>C (p.Asn1761His)
Xg.154905011T=CA2466828480F8c.5386A= (p.Asn1796=)
c.5281A= (p.Asn1761=)
Xg.154905012T>ACA414909123F8c.5385A>T (p.Arg1795Ser)
c.5280A>T (p.Arg1760Ser)
Xg.154905012T>CCA519357697F8c.5385A>G (p.Arg1795=)
c.5280A>G (p.Arg1760=)
 gnomAD v4
Xg.154905012T>GCA414909126F8c.5385A>C (p.Arg1795Ser)
c.5280A>C (p.Arg1760Ser)
Xg.154905013C>ACA414909128F8c.5384G>T (p.Arg1795Ile)
c.5279G>T (p.Arg1760Ile)
Xg.154905013C>GCA414909131F8c.5384G>C (p.Arg1795Thr)
c.5279G>C (p.Arg1760Thr)
Xg.154905013C>TCA414909134F8c.5384G>A (p.Arg1795Lys)
c.5279G>A (p.Arg1760Lys)

Number of alleles fetched