Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135789702T>ACA348586502LCTc.5432A>T (p.His1811Leu)
2g.135789702T>CCA348586504LCTc.5432A>G (p.His1811Arg)
gnomAD v4
2g.135789702T>GCA348586505LCTc.5432A>C (p.His1811Pro)
2g.135789703G>ACA348586506LCTc.5431C>T (p.His1811Tyr)
gnomAD v4
2g.135789703G>CCA348586507LCTc.5431C>G (p.His1811Asp)
2g.135789703G>TCA348586509LCTc.5431C>A (p.His1811Asn)
2g.135789704C>ACA429085093LCTc.5430G>T (p.Leu1810=)
2g.135789704C=CA1290822695LCTc.5430G= (p.Leu1810=)
2g.135789704C>GCA429085092LCTc.5430G>C (p.Leu1810=)
2g.135789704C>TCA1887615LCTc.5430G>A (p.Leu1810=)
dbSNP ExAC gnomAD v2
2g.135789705A>CCA348586514LCTc.5429T>G (p.Leu1810Arg)
2g.135789705A>GCA348586512LCTc.5429T>C (p.Leu1810Pro)
2g.135789705A>TCA348586511LCTc.5429T>A (p.Leu1810Gln)
2g.135789706G>ACA429085094LCTc.5428C>T (p.Leu1810=)
dbSNP
2g.135789706G>CCA348586518LCTc.5428C>G (p.Leu1810Val)
2g.135789706G=CA1290822696LCTc.5428C= (p.Leu1810=)
2g.135789706G>TCA348586519LCTc.5428C>A (p.Leu1810Met)
2g.135789707A>CCA429085095LCTc.5427T>G (p.Gly1809=)
2g.135789707A>GCA429085096LCTc.5427T>C (p.Gly1809=)
2g.135789707A>TCA429085097LCTc.5427T>A (p.Gly1809=)
2g.135789708C>ACA348586520LCTc.5426G>T (p.Gly1809Val)
2g.135789708C>GCA348586522LCTc.5426G>C (p.Gly1809Ala)
2g.135789708C>TCA348586525LCTc.5426G>A (p.Gly1809Asp)
gnomAD v4
2g.135789709C>ACA348586528LCTc.5425G>T (p.Gly1809Cys)
2g.135789709C>GCA348586529LCTc.5425G>C (p.Gly1809Arg)
2g.135789709C>TCA348586530LCTc.5425G>A (p.Gly1809Ser)
gnomAD v4
2g.135789710A>CCA348586533LCTc.5424T>G (p.Phe1808Leu)
2g.135789710A>GCA429085099LCTc.5424T>C (p.Phe1808=)
2g.135789710A>TCA348586535LCTc.5424T>A (p.Phe1808Leu)
2g.135789711A>CCA348586537LCTc.5423T>G (p.Phe1808Cys)
COSMIC
2g.135789711A>GCA348586538LCTc.5423T>C (p.Phe1808Ser)
2g.135789711A>TCA348586539LCTc.5423T>A (p.Phe1808Tyr)
2g.135789712A>CCA348586552LCTc.5422T>G (p.Phe1808Val)
2g.135789712A>GCA348586555LCTc.5422T>C (p.Phe1808Leu)
2g.135789712A>TCA348586542LCTc.5422T>A (p.Phe1808Ile)
2g.135789713T>ACA348586556LCTc.5421A>T (p.Arg1807Ser)
2g.135789713T>CCA429085100LCTc.5421A>G (p.Arg1807=)
2g.135789713T>GCA348586557LCTc.5421A>C (p.Arg1807Ser)
2g.135789714C>ACA348586560LCTc.5420G>T (p.Arg1807Ile)
gnomAD v4
2g.135789714C>GCA348586564LCTc.5420G>C (p.Arg1807Thr)
2g.135789714C>TCA348586575LCTc.5420G>A (p.Arg1807Lys)
gnomAD v4
2g.135789715T>ACA348586580LCTc.5419A>T (p.Arg1807Ter)
2g.135789715T>CCA348586594LCTc.5419A>G (p.Arg1807Gly)
2g.135789715T>GCA429085102LCTc.5419A>C (p.Arg1807=)
2g.135789716C>ACA348586597LCTc.5418G>T (p.Glu1806Asp)
2g.135789716C>GCA348586600LCTc.5418G>C (p.Glu1806Asp)
2g.135789716C>TCA429085103LCTc.5418G>A (p.Glu1806=)
COSMIC
2g.135789717T>ACA348586603LCTc.5417A>T (p.Glu1806Val)
2g.135789717T>CCA348586606LCTc.5417A>G (p.Glu1806Gly)
gnomAD v4
2g.135789717T>GCA348586611LCTc.5417A>C (p.Glu1806Ala)
2g.135789718C>ACA348586620LCTc.5416G>T (p.Glu1806Ter)
2g.135789718C>GCA348586625LCTc.5416G>C (p.Glu1806Gln)
2g.135789718C>TCA348586616LCTc.5416G>A (p.Glu1806Lys)
2g.135789719T>ACA429085105LCTc.5415A>T (p.Ser1805=)
2g.135789719T>CCA429085108LCTc.5415A>G (p.Ser1805=)
dbSNP gnomAD v4
2g.135789719T>GCA429085107LCTc.5415A>C (p.Ser1805=)
2g.135789720G>ACA348586629LCTc.5414C>T (p.Ser1805Leu)
2g.135789720G>CCA348586639LCTc.5414C>G (p.Ser1805Ter)
2g.135789720G>TCA348586641LCTc.5414C>A (p.Ser1805Ter)
dbSNP
2g.135789721A>CCA348586646LCTc.5413T>G (p.Ser1805Ala)
2g.135789721A>GCA348586647LCTc.5413T>C (p.Ser1805Pro)
2g.135789721A>TCA348586651LCTc.5413T>A (p.Ser1805Thr)
2g.135789724delCA2661273566LCTc.5413del (p.Ser1805GlnfsTer9)
gnomAD v4
2g.135789722A>CCA348586654LCTc.5412T>G (p.Phe1804Leu)
2g.135789722A>GCA429085109LCTc.5412T>C (p.Phe1804=)
2g.135789722A>TCA348586653LCTc.5412T>A (p.Phe1804Leu)
2g.135789723A>CCA348586655LCTc.5411T>G (p.Phe1804Cys)
2g.135789723A>GCA348586657LCTc.5411T>C (p.Phe1804Ser)
2g.135789723A>TCA348586661LCTc.5411T>A (p.Phe1804Tyr)
2g.135789724A>CCA348586667LCTc.5410T>G (p.Phe1804Val)
2g.135789724A>GCA348586670LCTc.5410T>C (p.Phe1804Leu)
2g.135789724A>TCA348586673LCTc.5410T>A (p.Phe1804Ile)
2g.135789725G>ACA429085111LCTc.5409C>T (p.Gly1803=)
2g.135789725G>CCA429085112LCTc.5409C>G (p.Gly1803=)
2g.135789725G>TCA429085113LCTc.5409C>A (p.Gly1803=)
gnomAD v4
2g.135789726C>ACA348586688LCTc.5408G>T (p.Gly1803Val)
2g.135789726C=CA1290822697LCTc.5408G= (p.Gly1803=)
2g.135789726C>GCA1887616LCTc.5408G>C (p.Gly1803Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135789726C>TCA348586679LCTc.5408G>A (p.Gly1803Asp)
2g.135789727C>ACA348586691LCTc.5407G>T (p.Gly1803Cys)
dbSNP gnomAD v4
2g.135789727C=CA1290822698LCTc.5407G= (p.Gly1803=)
2g.135789727C>GCA348586697LCTc.5407G>C (p.Gly1803Arg)
2g.135789727C>TCA348586694LCTc.5407G>A (p.Gly1803Ser)
2g.135789728T>ACA429085119LCTc.5406A>T (p.Thr1802=)
2g.135789728T>CCA429085120LCTc.5406A>G (p.Thr1802=)
dbSNP gnomAD v3 gnomAD v4
2g.135789728T>GCA429085118LCTc.5406A>C (p.Thr1802=)
2g.135789728T=CA1290822699LCTc.5406A= (p.Thr1802=)
2g.135789729G>ACA348586700LCTc.5405C>T (p.Thr1802Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135789729G>CCA348586702LCTc.5405C>G (p.Thr1802Arg)
2g.135789729G=CA1290822700LCTc.5405C= (p.Thr1802=)
2g.135789729G>TCA348586701LCTc.5405C>A (p.Thr1802Lys)
2g.135789730T>ACA348586704LCTc.5404A>T (p.Thr1802Ser)
2g.135789730T>CCA1887617LCTc.5404A>G (p.Thr1802Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789730T>GCA348586715LCTc.5404A>C (p.Thr1802Pro)
2g.135789730T=CA1290822701LCTc.5404A= (p.Thr1802=)
2g.135789731G>ACA429085121LCTc.5403C>T (p.Ala1801=)
2g.135789731G>CCA429085122LCTc.5403C>G (p.Ala1801=)
2g.135789731G>TCA429085124LCTc.5403C>A (p.Ala1801=)
2g.135789732G>ACA348586719LCTc.5402C>T (p.Ala1801Val)
COSMIC
2g.135789732G>CCA348586722LCTc.5402C>G (p.Ala1801Gly)
2g.135789732G>TCA348586725LCTc.5402C>A (p.Ala1801Asp)
2g.135789733C>ACA348586728LCTc.5401G>T (p.Ala1801Ser)
2g.135789733C>GCA348586729LCTc.5401G>C (p.Ala1801Pro)
2g.135789733C>TCA348586730LCTc.5401G>A (p.Ala1801Thr)
2g.135789734_135789737dupCA2661273567LCTc.5398_5401dup (p.Ala1801ValfsTer18)
gnomAD v4
2g.135789734C>ACA348586731LCTc.5400G>T (p.Trp1800Cys)
2g.135789734C>GCA348586733LCTc.5400G>C (p.Trp1800Cys)
2g.135789734C>TCA348586735LCTc.5400G>A (p.Trp1800Ter)
2g.135789735C>ACA348586745LCTc.5399G>T (p.Trp1800Leu)
2g.135789735C>GCA348586738LCTc.5399G>C (p.Trp1800Ser)
2g.135789735C>TCA348586740LCTc.5399G>A (p.Trp1800Ter)
gnomAD v4
2g.135789736A>CCA348586748LCTc.5398T>G (p.Trp1800Gly)
2g.135789736A>GCA348586752LCTc.5398T>C (p.Trp1800Arg)
gnomAD v4
2g.135789736A>TCA348586754LCTc.5398T>A (p.Trp1800Arg)
2g.135789737C>ACA348586761LCTc.5397G>T (p.Glu1799Asp)
2g.135789737C>GCA348586763LCTc.5397G>C (p.Glu1799Asp)
2g.135789737C>TCA429085129LCTc.5397G>A (p.Glu1799=)
2g.135789738T>ACA348586768LCTc.5396A>T (p.Glu1799Val)
COSMIC
2g.135789738T>CCA348586772LCTc.5396A>G (p.Glu1799Gly)
2g.135789738T>GCA348586775LCTc.5396A>C (p.Glu1799Ala)
2g.135789739C>ACA348586779LCTc.5395G>T (p.Glu1799Ter)
2g.135789739C=CA1290822702LCTc.5395G= (p.Glu1799=)
2g.135789739C>GCA348586783LCTc.5395G>C (p.Glu1799Gln)
gnomAD v4
2g.135789739C>TCA56595076LCTc.5395G>A (p.Glu1799Lys)
dbSNP gnomAD v3 gnomAD v4
2g.135789740A=CA1290822703LCTc.5394T= (p.Phe1798=)
2g.135789740A>CCA348586792LCTc.5394T>G (p.Phe1798Leu)
2g.135789740A>GCA429085131LCTc.5394T>C (p.Phe1798=)
dbSNP gnomAD v3 gnomAD v4
2g.135789740A>TCA348586796LCTc.5394T>A (p.Phe1798Leu)
2g.135789741A=CA1290822704LCTc.5393T= (p.Phe1798=)
2g.135789741A>CCA348586801LCTc.5393T>G (p.Phe1798Cys)
2g.135789741A>GCA1887618LCTc.5393T>C (p.Phe1798Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789741A>TCA348586806LCTc.5393T>A (p.Phe1798Tyr)
dbSNP
2g.135789742A>CCA348586817LCTc.5392T>G (p.Phe1798Val)
2g.135789742A>GCA348586819LCTc.5392T>C (p.Phe1798Leu)
2g.135789742A>TCA348586822LCTc.5392T>A (p.Phe1798Ile)
2g.135789743A=CA1290822705LCTc.5391T= (p.Asn1797=)
2g.135789743A>CCA348586830LCTc.5391T>G (p.Asn1797Lys)
2g.135789743A>GCA1887619LCTc.5391T>C (p.Asn1797=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789743A>TCA348586835LCTc.5391T>A (p.Asn1797Lys)
2g.135789744T>ACA348586839LCTc.5390A>T (p.Asn1797Ile)
2g.135789744T>CCA348586844LCTc.5390A>G (p.Asn1797Ser)
2g.135789744T>GCA348586846LCTc.5390A>C (p.Asn1797Thr)
2g.135789745T>ACA348586855LCTc.5389A>T (p.Asn1797Tyr)
2g.135789745T>CCA348586854LCTc.5389A>G (p.Asn1797Asp)
gnomAD v4
2g.135789745T>GCA348586851LCTc.5389A>C (p.Asn1797His)
2g.135789746G>ACA429085133LCTc.5388C>T (p.Asp1796=)
2g.135789746G>CCA348586856LCTc.5388C>G (p.Asp1796Glu)
2g.135789746G>TCA348586858LCTc.5388C>A (p.Asp1796Glu)
2g.135789746_135789747delinsGTCA1290822706LCTc.5387_5388delinsAC (p.Asp1796=)
2g.135789747delCA144322LCTc.5387del (p.Asp1796AlafsTer18)
ClinVar dbSNP
2g.135789747T>ACA348586864LCTc.5387A>T (p.Asp1796Val)
2g.135789747T>CCA348586867LCTc.5387A>G (p.Asp1796Gly)
2g.135789747T>GCA348586877LCTc.5387A>C (p.Asp1796Ala)
2g.135789748C>ACA348586883LCTc.5386G>T (p.Asp1796Tyr)
2g.135789748C>GCA348586884LCTc.5386G>C (p.Asp1796His)
2g.135789748C>TCA348586886LCTc.5386G>A (p.Asp1796Asn)
2g.135789749delCA2661273568LCTc.5386del (p.Asp1796ThrfsTer18)
gnomAD v4
2g.135789749C>ACA348586889LCTc.5385G>T (p.Met1795Ile)
2g.135789749C>GCA348586890LCTc.5385G>C (p.Met1795Ile)
2g.135789749C>TCA348586891LCTc.5385G>A (p.Met1795Ile)
2g.135789750A=CA1290822707LCTc.5384T= (p.Met1795=)
2g.135789750A>CCA348586901LCTc.5384T>G (p.Met1795Arg)
2g.135789750A>GCA348586898LCTc.5384T>C (p.Met1795Thr)
dbSNP gnomAD v3 gnomAD v4
2g.135789750A>TCA348586894LCTc.5384T>A (p.Met1795Lys)
dbSNP gnomAD v2 gnomAD v4
2g.135789751T>ACA348586904LCTc.5383A>T (p.Met1795Leu)
2g.135789751T>CCA348586906LCTc.5383A>G (p.Met1795Val)
dbSNP gnomAD v4
2g.135789751T>GCA348586905LCTc.5383A>C (p.Met1795Leu)
2g.135789751T=CA1290822708LCTc.5383A= (p.Met1795=)
2g.135789752C>ACA429085135LCTc.5382G>T (p.Ala1794=)
2g.135789752C=CA1290822709LCTc.5382G= (p.Ala1794=)
2g.135789752C>GCA429085136LCTc.5382G>C (p.Ala1794=)
2g.135789752C>TCA429085137LCTc.5382G>A (p.Ala1794=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.135789753G>ACA1887620LCTc.5381C>T (p.Ala1794Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135789753G>CCA348586912LCTc.5381C>G (p.Ala1794Gly)
2g.135789753G=CA1290822710LCTc.5381C= (p.Ala1794=)
2g.135789753G>TCA348586914LCTc.5381C>A (p.Ala1794Glu)
2g.135789754C>ACA348586918LCTc.5380G>T (p.Ala1794Ser)
2g.135789754C>GCA348586919LCTc.5380G>C (p.Ala1794Pro)
2g.135789754C>TCA348586920LCTc.5380G>A (p.Ala1794Thr)
gnomAD v4
2g.135789755A>CCA348586922LCTc.5379T>G (p.Ser1793Arg)
2g.135789755A>GCA429085141LCTc.5379T>C (p.Ser1793=)
gnomAD v4
2g.135789755A>TCA348586928LCTc.5379T>A (p.Ser1793Arg)
2g.135789756C>ACA348586932LCTc.5378G>T (p.Ser1793Ile)
2g.135789756C=CA1290822711LCTc.5378G= (p.Ser1793=)
2g.135789756C>GCA348586935LCTc.5378G>C (p.Ser1793Thr)
2g.135789756C>TCA1887621LCTc.5378G>A (p.Ser1793Asn)
dbSNP ExAC gnomAD v2
2g.135789757T>ACA348586949LCTc.5377A>T (p.Ser1793Cys)
2g.135789757T>CCA348586946LCTc.5377A>G (p.Ser1793Gly)
2g.135789757T>GCA348586942LCTc.5377A>C (p.Ser1793Arg)
2g.135789758C>ACA348586953LCTc.5376G>T (p.Trp1792Cys)
2g.135789758C>GCA348586956LCTc.5376G>C (p.Trp1792Cys)
2g.135789758C>TCA348586960LCTc.5376G>A (p.Trp1792Ter)
2g.135789759C>ACA348586965LCTc.5375G>T (p.Trp1792Leu)
2g.135789759C>GCA348586968LCTc.5375G>C (p.Trp1792Ser)
2g.135789759C>TCA348586973LCTc.5375G>A (p.Trp1792Ter)
2g.135789760A=CA1290822712LCTc.5374T= (p.Trp1792=)
2g.135789760A>CCA348586978LCTc.5374T>G (p.Trp1792Gly)
2g.135789760A>GCA348586981LCTc.5374T>C (p.Trp1792Arg)
dbSNP gnomAD v2 gnomAD v4
2g.135789760A>TCA348586984LCTc.5374T>A (p.Trp1792Arg)
2g.135789761A>CCA429085148LCTc.5373T>G (p.Val1791=)
2g.135789761A>GCA429085149LCTc.5373T>C (p.Val1791=)
2g.135789761A>TCA429085151LCTc.5373T>A (p.Val1791=)
2g.135789762A=CA1290822713LCTc.5372T= (p.Val1791=)
2g.135789762A>CCA348586988LCTc.5372T>G (p.Val1791Gly)
2g.135789762A>GCA348586990LCTc.5372T>C (p.Val1791Ala)
dbSNP gnomAD v3 gnomAD v4
2g.135789762A>TCA348586994LCTc.5372T>A (p.Val1791Asp)
2g.135789763C>ACA348587009LCTc.5371G>T (p.Val1791Phe)
2g.135789763C>GCA348587005LCTc.5371G>C (p.Val1791Leu)
2g.135789763C>TCA348587002LCTc.5371G>A (p.Val1791Ile)
2g.135789764T>ACA429085156LCTc.5370A>T (p.Thr1790=)
2g.135789764T>CCA429085157LCTc.5370A>G (p.Thr1790=)
2g.135789764T>GCA429085158LCTc.5370A>C (p.Thr1790=)
2g.135789767_135789768delCA2661273569LCTc.5369_5370del (p.Thr1790SerfsTer9)
gnomAD v4
2g.135789765G>ACA348587014LCTc.5369C>T (p.Thr1790Ile)
2g.135789765G>CCA348587022LCTc.5369C>G (p.Thr1790Arg)
2g.135789765G>TCA348587029LCTc.5369C>A (p.Thr1790Lys)
2g.135789766T>ACA348587034LCTc.5368A>T (p.Thr1790Ser)
2g.135789766T>CCA348587037LCTc.5368A>G (p.Thr1790Ala)
dbSNP gnomAD v3 gnomAD v4
2g.135789766T>GCA348587040LCTc.5368A>C (p.Thr1790Pro)
2g.135789766T=CA1290822714LCTc.5368A= (p.Thr1790=)
2g.135789767G>ACA1887622LCTc.5367C>T (p.Tyr1789=)
dbSNP ExAC gnomAD v2
2g.135789767G>CCA348587045LCTc.5367C>G (p.Tyr1789Ter)
2g.135789767G=CA1290822715LCTc.5367C= (p.Tyr1789=)
2g.135789767G>TCA348587047LCTc.5367C>A (p.Tyr1789Ter)
2g.135789768T>ACA348587052LCTc.5366A>T (p.Tyr1789Phe)
2g.135789768T>CCA348587056LCTc.5366A>G (p.Tyr1789Cys)
gnomAD v4
2g.135789768T>GCA348587059LCTc.5366A>C (p.Tyr1789Ser)
2g.135789769A>CCA348587066LCTc.5365T>G (p.Tyr1789Asp)
2g.135789769A>GCA348587064LCTc.5365T>C (p.Tyr1789His)
2g.135789769A>TCA348587061LCTc.5365T>A (p.Tyr1789Asn)
2g.135789770T>ACA429085172LCTc.5364A>T (p.Gly1788=)
2g.135789770T>CCA429085174LCTc.5364A>G (p.Gly1788=)
2g.135789770T>GCA429085173LCTc.5364A>C (p.Gly1788=)
2g.135789771C>ACA348587069LCTc.5363G>T (p.Gly1788Val)
2g.135789771C=CA1290822716LCTc.5363G= (p.Gly1788=)
2g.135789771C>GCA348587071LCTc.5363G>C (p.Gly1788Ala)
2g.135789771C>TCA348587074LCTc.5363G>A (p.Gly1788Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135789772C>ACA348587078LCTc.5362G>T (p.Gly1788Ter)
2g.135789772C>GCA348587080LCTc.5362G>C (p.Gly1788Arg)
2g.135789772C>TCA348587083LCTc.5362G>A (p.Gly1788Arg)
2g.135789773T>ACA429085178LCTc.5361A>T (p.Arg1787=)
2g.135789773T>CCA429085179LCTc.5361A>G (p.Arg1787=)
2g.135789773T>GCA429085180LCTc.5361A>C (p.Arg1787=)
2g.135789774C>ACA348587086LCTc.5360G>T (p.Arg1787Leu)
2g.135789774C=CA1290822717LCTc.5360G= (p.Arg1787=)
2g.135789774C>GCA348587089LCTc.5360G>C (p.Arg1787Pro)
ClinVar
2g.135789774C>TCA348587091LCTc.5360G>A (p.Arg1787Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135789775G>ACA56595139LCTc.5359C>T (p.Arg1787Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135789775G>CCA348587098LCTc.5359C>G (p.Arg1787Gly)
2g.135789775G=CA1290822718LCTc.5359C= (p.Arg1787=)
2g.135789775G>TCA429085186LCTc.5359C>A (p.Arg1787=)
2g.135789776A=CA1290822719LCTc.5358T= (p.Leu1786=)
2g.135789776A>CCA56595148LCTc.5358T>G (p.Leu1786=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135789776A>GCA429085189LCTc.5358T>C (p.Leu1786=)
2g.135789776A>TCA429085191LCTc.5358T>A (p.Leu1786=)
2g.135789777A>CCA348587111LCTc.5357T>G (p.Leu1786Arg)
2g.135789777A>GCA348587108LCTc.5357T>C (p.Leu1786Pro)
2g.135789777A>TCA348587104LCTc.5357T>A (p.Leu1786His)
2g.135789778G>ACA348587115LCTc.5356C>T (p.Leu1786Phe)
dbSNP gnomAD v3 gnomAD v4
2g.135789778G>CCA348587124LCTc.5356C>G (p.Leu1786Val)
2g.135789778G=CA1290822720LCTc.5356C= (p.Leu1786=)
2g.135789778G>TCA348587120LCTc.5356C>A (p.Leu1786Ile)
2g.135789779G>ACA429085195LCTc.5355C>T (p.Asp1785=)
gnomAD v4
2g.135789779G>CCA348587129LCTc.5355C>G (p.Asp1785Glu)
2g.135789779G>TCA348587133LCTc.5355C>A (p.Asp1785Glu)
2g.135789780T>ACA348587140LCTc.5354A>T (p.Asp1785Val)
2g.135789780T>CCA348587147LCTc.5354A>G (p.Asp1785Gly)
2g.135789780T>GCA348587144LCTc.5354A>C (p.Asp1785Ala)
2g.135789781C>ACA348587152LCTc.5353G>T (p.Asp1785Tyr)
2g.135789781C>GCA348587159LCTc.5353G>C (p.Asp1785His)
2g.135789781C>TCA348587155LCTc.5353G>A (p.Asp1785Asn)
2g.135789782C>ACA429085199LCTc.5352G>T (p.Val1784=)
2g.135789782C>GCA429085200LCTc.5352G>C (p.Val1784=)
2g.135789782C>TCA429085201LCTc.5352G>A (p.Val1784=)
COSMIC
2g.135789783A=CA1290822721LCTc.5351T= (p.Val1784=)
2g.135789783A>CCA348587169LCTc.5351T>G (p.Val1784Gly)
2g.135789783A>GCA348587171LCTc.5351T>C (p.Val1784Ala)
2g.135789783A>TCA1887623LCTc.5351T>A (p.Val1784Glu)
dbSNP ExAC gnomAD v2
2g.135789784C>ACA348587175LCTc.5350G>T (p.Val1784Leu)
2g.135789784C>GCA348587180LCTc.5350G>C (p.Val1784Leu)
2g.135789784C>TCA348587178LCTc.5350G>A (p.Val1784Met)
2g.135789785C>ACA348587185LCTc.5349G>T (p.Lys1783Asn)
2g.135789785C>GCA348587189LCTc.5349G>C (p.Lys1783Asn)
2g.135789785C>TCA429085205LCTc.5349G>A (p.Lys1783=)
gnomAD v4
2g.135789786T>ACA348587196LCTc.5348A>T (p.Lys1783Met)
2g.135789786T>CCA348587198LCTc.5348A>G (p.Lys1783Arg)
2g.135789786T>GCA348587201LCTc.5348A>C (p.Lys1783Thr)
2g.135789787T>ACA348587203LCTc.5347A>T (p.Lys1783Ter)
2g.135789787T>CCA1887624LCTc.5347A>G (p.Lys1783Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.135789787T>GCA348587207LCTc.5347A>C (p.Lys1783Gln)
2g.135789787T=CA1290822722LCTc.5347A= (p.Lys1783=)
2g.135789788G>ACA1887625LCTc.5346C>T (p.Asp1782=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789788G>CCA348587211LCTc.5346C>G (p.Asp1782Glu)
2g.135789788G=CA1290822723LCTc.5346C= (p.Asp1782=)
2g.135789788G>TCA348587213LCTc.5346C>A (p.Asp1782Glu)
2g.135789789T>ACA348587221LCTc.5345A>T (p.Asp1782Val)
2g.135789789T>CCA348587216LCTc.5345A>G (p.Asp1782Gly)
2g.135789789T>GCA348587219LCTc.5345A>C (p.Asp1782Ala)
2g.135789790C>ACA348587224LCTc.5344G>T (p.Asp1782Tyr)
2g.135789790C>GCA348587227LCTc.5344G>C (p.Asp1782His)
2g.135789790C>TCA348587229LCTc.5344G>A (p.Asp1782Asn)
gnomAD v4
2g.135789791C>ACA348587232LCTc.5343G>T (p.Gln1781His)
2g.135789791C>GCA348587235LCTc.5343G>C (p.Gln1781His)
2g.135789791C>TCA429085215LCTc.5343G>A (p.Gln1781=)
2g.135789792T>ACA348587237LCTc.5342A>T (p.Gln1781Leu)
2g.135789792T>CCA348587239LCTc.5342A>G (p.Gln1781Arg)
2g.135789792T>GCA348587242LCTc.5342A>C (p.Gln1781Pro)
2g.135789793G>ACA1887626LCTc.5341C>T (p.Gln1781Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135789793G>CCA348587246LCTc.5341C>G (p.Gln1781Glu)
2g.135789793G=CA1290822724LCTc.5341C= (p.Gln1781=)
2g.135789793G>TCA348587248LCTc.5341C>A (p.Gln1781Lys)
2g.135789794C>ACA429085217LCTc.5340G>T (p.Val1780=)
dbSNP gnomAD v3 gnomAD v4
2g.135789794C=CA1290822725LCTc.5340G= (p.Val1780=)
2g.135789794C>GCA429085218LCTc.5340G>C (p.Val1780=)
2g.135789794C>TCA1887627LCTc.5340G>A (p.Val1780=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135789795A>CCA348587258LCTc.5339T>G (p.Val1780Gly)
2g.135789795A>GCA348587254LCTc.5339T>C (p.Val1780Ala)
2g.135789795A>TCA348587256LCTc.5339T>A (p.Val1780Glu)
2g.135789796C>ACA348587261LCTc.5338G>T (p.Val1780Leu)
2g.135789796C>GCA348587264LCTc.5338G>C (p.Val1780Leu)
2g.135789796C>TCA348587266LCTc.5338G>A (p.Val1780Met)
gnomAD v4
2g.135789797A>CCA429085223LCTc.5337T>G (p.Ala1779=)
COSMIC
2g.135789797A>GCA429085224LCTc.5337T>C (p.Ala1779=)
2g.135789797A>TCA429085225LCTc.5337T>A (p.Ala1779=)
2g.135789798G>ACA348587269LCTc.5336C>T (p.Ala1779Val)
2g.135789798G>CCA348587272LCTc.5336C>G (p.Ala1779Gly)
2g.135789798G>TCA348587274LCTc.5336C>A (p.Ala1779Asp)
2g.135789799C>ACA348587277LCTc.5336-1G>T (n.5336-1G>T)
2g.135789799C>GCA348587279LCTc.5336-1G>C (n.5336-1G>C)
2g.135789799C>TCA348587282LCTc.5336-1G>A (n.5336-1G>A)
2g.135789800T>ACA348587289LCTc.5336-2A>T (n.5336-2A>T)
gnomAD v4
2g.135789800T>CCA348587287LCTc.5336-2A>G (n.5336-2A>G)
2g.135789800T>GCA348587285LCTc.5336-2A>C (n.5336-2A>C)

Number of alleles fetched