Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169529750G>ACA421737896F5c.5277C>T (p.Asp1759=)
c.5292C>T (p.Asp1764=)
c.4866C>T (p.Asp1622=)
1g.169529750G>CCA343130771F5c.5277C>G (p.Asp1759Glu)
c.5292C>G (p.Asp1764Glu)
c.4866C>G (p.Asp1622Glu)
1g.169529750G>TCA343130767F5c.5277C>A (p.Asp1759Glu)
c.5292C>A (p.Asp1764Glu)
c.4866C>A (p.Asp1622Glu)
1g.169529751T>ACA343130772F5c.5276A>T (p.Asp1759Val)
c.5291A>T (p.Asp1764Val)
c.4865A>T (p.Asp1622Val)
1g.169529751T>CCA343130773F5c.5276A>G (p.Asp1759Gly)
c.5291A>G (p.Asp1764Gly)
c.4865A>G (p.Asp1622Gly)
1g.169529751T>GCA343130775F5c.5276A>C (p.Asp1759Ala)
c.5291A>C (p.Asp1764Ala)
c.4865A>C (p.Asp1622Ala)
1g.169529752C>ACA343130780F5c.5275G>T (p.Asp1759Tyr)
c.5290G>T (p.Asp1764Tyr)
c.4864G>T (p.Asp1622Tyr)
1g.169529752C>GCA343130782F5c.5275G>C (p.Asp1759His)
c.5290G>C (p.Asp1764His)
c.4864G>C (p.Asp1622His)
1g.169529752C>TCA343130784F5c.5275G>A (p.Asp1759Asn)
c.5290G>A (p.Asp1764Asn)
c.4864G>A (p.Asp1622Asn)
1g.169529753C>ACA343130787F5c.5274G>T (p.Lys1758Asn)
c.5289G>T (p.Lys1763Asn)
c.4863G>T (p.Lys1621Asn)
1g.169529753C>GCA343130796F5c.5274G>C (p.Lys1758Asn)
c.5289G>C (p.Lys1763Asn)
c.4863G>C (p.Lys1621Asn)
1g.169529753C>TCA421737899F5c.5274G>A (p.Lys1758=)
c.5289G>A (p.Lys1763=)
c.4863G>A (p.Lys1621=)
1g.169529754T>ACA343130800F5c.5273A>T (p.Lys1758Met)
c.5288A>T (p.Lys1763Met)
c.4862A>T (p.Lys1621Met)
1g.169529754T>CCA343130801F5c.5273A>G (p.Lys1758Arg)
c.5288A>G (p.Lys1763Arg)
c.4862A>G (p.Lys1621Arg)
1g.169529754T>GCA343130802F5c.5273A>C (p.Lys1758Thr)
c.5288A>C (p.Lys1763Thr)
c.4862A>C (p.Lys1621Thr)
1g.169529755T>ACA343130806F5c.5272A>T (p.Lys1758Ter)
c.5287A>T (p.Lys1763Ter)
c.4861A>T (p.Lys1621Ter)
1g.169529755T>CCA343130812F5c.5272A>G (p.Lys1758Glu)
c.5287A>G (p.Lys1763Glu)
c.4861A>G (p.Lys1621Glu)
1g.169529755T>GCA343130804F5c.5272A>C (p.Lys1758Gln)
c.5287A>C (p.Lys1763Gln)
c.4861A>C (p.Lys1621Gln)
1g.169529756A>CCA343130814F5c.5271T>G (p.His1757Gln)
c.5286T>G (p.His1762Gln)
c.4860T>G (p.His1620Gln)
1g.169529756A>GCA421737901F5c.5271T>C (p.His1757=)
c.5286T>C (p.His1762=)
c.4860T>C (p.His1620=)
1g.169529756A>TCA343130816F5c.5271T>A (p.His1757Gln)
c.5286T>A (p.His1762Gln)
c.4860T>A (p.His1620Gln)
1g.169529757T>ACA343130821F5c.5270A>T (p.His1757Leu)
c.5285A>T (p.His1762Leu)
c.4859A>T (p.His1620Leu)
1g.169529757T>CCA1233532F5c.5270A>G (p.His1757Arg)
c.5285A>G (p.His1762Arg)
c.4859A>G (p.His1620Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529757T>GCA343130822F5c.5270A>C (p.His1757Pro)
c.5285A>C (p.His1762Pro)
c.4859A>C (p.His1620Pro)
1g.169529757T=CA1206135837F5c.5270A= (p.His1757=)
c.5285A= (p.His1762=)
c.4859A= (p.His1620=)
1g.169529758G>ACA32434841F5c.5269C>T (p.His1757Tyr)
c.5284C>T (p.His1762Tyr)
c.4858C>T (p.His1620Tyr)
 dbSNP gnomAD v4
1g.169529758G>CCA343130827F5c.5269C>G (p.His1757Asp)
c.5284C>G (p.His1762Asp)
c.4858C>G (p.His1620Asp)
1g.169529758G=CA1206135838F5c.5269C= (p.His1757=)
c.5284C= (p.His1762=)
c.4858C= (p.His1620=)
1g.169529758G>TCA343130834F5c.5269C>A (p.His1757Asn)
c.5284C>A (p.His1762Asn)
c.4858C>A (p.His1620Asn)
1g.169529759T>ACA421737904F5c.5268A>T (p.Leu1756=)
c.5283A>T (p.Leu1761=)
c.4857A>T (p.Leu1619=)
1g.169529759T>CCA421737905F5c.5268A>G (p.Leu1756=)
c.5283A>G (p.Leu1761=)
c.4857A>G (p.Leu1619=)
1g.169529759T>GCA421737903F5c.5268A>C (p.Leu1756=)
c.5283A>C (p.Leu1761=)
c.4857A>C (p.Leu1619=)
1g.169529760A>CCA343130842F5c.5267T>G (p.Leu1756Arg)
c.5282T>G (p.Leu1761Arg)
c.4856T>G (p.Leu1619Arg)
1g.169529760A>GCA343130843F5c.5267T>C (p.Leu1756Pro)
c.5282T>C (p.Leu1761Pro)
c.4856T>C (p.Leu1619Pro)
 gnomAD v4
1g.169529760A>TCA343130844F5c.5267T>A (p.Leu1756Gln)
c.5282T>A (p.Leu1761Gln)
c.4856T>A (p.Leu1619Gln)
1g.169529761G>ACA421737907F5c.5266C>T (p.Leu1756=)
c.5281C>T (p.Leu1761=)
c.4855C>T (p.Leu1619=)
1g.169529761G>CCA343130847F5c.5266C>G (p.Leu1756Val)
c.5281C>G (p.Leu1761Val)
c.4855C>G (p.Leu1619Val)
1g.169529761G>TCA343130850F5c.5266C>A (p.Leu1756Ile)
c.5281C>A (p.Leu1761Ile)
c.4855C>A (p.Leu1619Ile)
1g.169529762T>ACA421737908F5c.5265A>T (p.Ile1755=)
c.5280A>T (p.Ile1760=)
c.4854A>T (p.Ile1618=)
1g.169529762T>CCA1233533F5c.5265A>G (p.Ile1755Met)
c.5280A>G (p.Ile1760Met)
c.4854A>G (p.Ile1618Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529762T>GCA421737910F5c.5265A>C (p.Ile1755=)
c.5280A>C (p.Ile1760=)
c.4854A>C (p.Ile1618=)
1g.169529762T=CA1140610803F5c.5265A= (p.Ile1755=)
c.5280A= (p.Ile1760=)
c.4854A= (p.Ile1618=)
1g.169529763A>CCA343130857F5c.5264T>G (p.Ile1755Arg)
c.5279T>G (p.Ile1760Arg)
c.4853T>G (p.Ile1618Arg)
1g.169529763A>GCA343130860F5c.5264T>C (p.Ile1755Thr)
c.5279T>C (p.Ile1760Thr)
c.4853T>C (p.Ile1618Thr)
1g.169529763A>TCA343130862F5c.5264T>A (p.Ile1755Lys)
c.5279T>A (p.Ile1760Lys)
c.4853T>A (p.Ile1618Lys)
1g.169529764T>ACA343130871F5c.5263A>T (p.Ile1755Leu)
c.5278A>T (p.Ile1760Leu)
c.4852A>T (p.Ile1618Leu)
1g.169529764T>CCA1233534F5c.5263A>G (p.Ile1755Val)
c.5278A>G (p.Ile1760Val)
c.4852A>G (p.Ile1618Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529764T>GCA343130882F5c.5263A>C (p.Ile1755Leu)
c.5278A>C (p.Ile1760Leu)
c.4852A>C (p.Ile1618Leu)
1g.169529764T=CA1206135839F5c.5263A= (p.Ile1755=)
c.5278A= (p.Ile1760=)
c.4852A= (p.Ile1618=)
1g.169529765T>ACA1233535F5c.5262A>T (p.Gly1754=)
c.5277A>T (p.Gly1759=)
c.4851A>T (p.Gly1617=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529765T>CCA421737913F5c.5262A>G (p.Gly1754=)
c.5277A>G (p.Gly1759=)
c.4851A>G (p.Gly1617=)
1g.169529765T>GCA421737914F5c.5262A>C (p.Gly1754=)
c.5277A>C (p.Gly1759=)
c.4851A>C (p.Gly1617=)
1g.169529765T=CA1206135840F5c.5262A= (p.Gly1754=)
c.5277A= (p.Gly1759=)
c.4851A= (p.Gly1617=)
1g.169529765_169529766delinsTCCA1206135841F5c.5261_5262delinsGA (p.Gly1754=)
c.5276_5277delinsGA (p.Gly1759=)
c.4850_4851delinsGA (p.Gly1617=)
1g.169529766C>ACA343130893F5c.5261G>T (p.Gly1754Val)
c.5276G>T (p.Gly1759Val)
c.4850G>T (p.Gly1617Val)
 gnomAD v4
1g.169529766C=CA1206135842F5c.5261G= (p.Gly1754=)
c.5276G= (p.Gly1759=)
c.4850G= (p.Gly1617=)
1g.169529766C>GCA343130894F5c.5261G>C (p.Gly1754Ala)
c.5276G>C (p.Gly1759Ala)
c.4850G>C (p.Gly1617Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.169529766C>TCA1233536F5c.5261G>A (p.Gly1754Glu)
c.5276G>A (p.Gly1759Glu)
c.4850G>A (p.Gly1617Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529767delCA32434869F5c.5261del (p.Gly1754GlufsTer13)
c.5276del (p.Gly1759GlufsTer13)
c.4850del (p.Gly1617GlufsTer13)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169529767C>ACA343130898F5c.5260G>T (p.Gly1754Ter)
c.5275G>T (p.Gly1759Ter)
c.4849G>T (p.Gly1617Ter)
1g.169529767C=CA1206135843F5c.5260G= (p.Gly1754=)
c.5275G= (p.Gly1759=)
c.4849G= (p.Gly1617=)
1g.169529767C>GCA343130900F5c.5260G>C (p.Gly1754Arg)
c.5275G>C (p.Gly1759Arg)
c.4849G>C (p.Gly1617Arg)
 ClinVar dbSNP gnomAD v4
1g.169529767C>TCA343130902F5c.5260G>A (p.Gly1754Arg)
c.5275G>A (p.Gly1759Arg)
c.4849G>A (p.Gly1617Arg)
 gnomAD v4
1g.169529768T>ACA343130915F5c.5259A>T (p.Lys1753Asn)
c.5274A>T (p.Lys1758Asn)
c.4848A>T (p.Lys1616Asn)
1g.169529768T>CCA32434875F5c.5259A>G (p.Lys1753=)
c.5274A>G (p.Lys1758=)
c.4848A>G (p.Lys1616=)
 dbSNP
1g.169529768T>GCA343130905F5c.5259A>C (p.Lys1753Asn)
c.5274A>C (p.Lys1758Asn)
c.4848A>C (p.Lys1616Asn)
1g.169529768T=CA1141185213F5c.5259A= (p.Lys1753=)
c.5274A= (p.Lys1758=)
c.4848A= (p.Lys1616=)
1g.169529772dupCA645535873F5c.5259dup (p.Gly1754ArgfsTer5)
c.5274dup (p.Gly1759ArgfsTer5)
c.4848dup (p.Gly1617ArgfsTer5)
 dbSNP COSMIC
1g.169529768_169529769insACA421737919F5c.5258_5259insT (p.Lys1753AsnfsTer6)
c.5273_5274insT (p.Lys1758AsnfsTer6)
c.4847_4848insT (p.Lys1616AsnfsTer6)
1g.169529769T>ACA343130930F5c.5258A>T (p.Lys1753Ile)
c.5273A>T (p.Lys1758Ile)
c.4847A>T (p.Lys1616Ile)
1g.169529769T>CCA343130924F5c.5258A>G (p.Lys1753Arg)
c.5273A>G (p.Lys1758Arg)
c.4847A>G (p.Lys1616Arg)
1g.169529769T>GCA343130927F5c.5258A>C (p.Lys1753Thr)
c.5273A>C (p.Lys1758Thr)
c.4847A>C (p.Lys1616Thr)
1g.169529770T>ACA343130932F5c.5257A>T (p.Lys1753Ter)
c.5272A>T (p.Lys1758Ter)
c.4846A>T (p.Lys1616Ter)
1g.169529770T>CCA343130936F5c.5257A>G (p.Lys1753Glu)
c.5272A>G (p.Lys1758Glu)
c.4846A>G (p.Lys1616Glu)
1g.169529770T>GCA343130938F5c.5257A>C (p.Lys1753Gln)
c.5272A>C (p.Lys1758Gln)
c.4846A>C (p.Lys1616Gln)
1g.169529771T>ACA343130941F5c.5256A>T (p.Gln1752His)
c.5271A>T (p.Gln1757His)
c.4845A>T (p.Gln1615His)
1g.169529771T>CCA421737921F5c.5256A>G (p.Gln1752=)
c.5271A>G (p.Gln1757=)
c.4845A>G (p.Gln1615=)
1g.169529771T>GCA343130944F5c.5256A>C (p.Gln1752His)
c.5271A>C (p.Gln1757His)
c.4845A>C (p.Gln1615His)
 dbSNP gnomAD v4
1g.169529771T=CA1206135844F5c.5256A= (p.Gln1752=)
c.5271A= (p.Gln1757=)
c.4845A= (p.Gln1615=)
1g.169529772T>ACA343130946F5c.5255A>T (p.Gln1752Leu)
c.5270A>T (p.Gln1757Leu)
c.4844A>T (p.Gln1615Leu)
 dbSNP
1g.169529772T>CCA343130948F5c.5255A>G (p.Gln1752Arg)
c.5270A>G (p.Gln1757Arg)
c.4844A>G (p.Gln1615Arg)
1g.169529772T>GCA343130949F5c.5255A>C (p.Gln1752Pro)
c.5270A>C (p.Gln1757Pro)
c.4844A>C (p.Gln1615Pro)
1g.169529772T=CA1206135845F5c.5255A= (p.Gln1752=)
c.5270A= (p.Gln1757=)
c.4844A= (p.Gln1615=)
1g.169529773G>ACA343130952F5c.5254C>T (p.Gln1752Ter)
c.5269C>T (p.Gln1757Ter)
c.4843C>T (p.Gln1615Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.169529773G>CCA343130955F5c.5254C>G (p.Gln1752Glu)
c.5269C>G (p.Gln1757Glu)
c.4843C>G (p.Gln1615Glu)
1g.169529773G=CA1206135846F5c.5254C= (p.Gln1752=)
c.5269C= (p.Gln1757=)
c.4843C= (p.Gln1615=)
1g.169529773G>TCA343130957F5c.5254C>A (p.Gln1752Lys)
c.5269C>A (p.Gln1757Lys)
c.4843C>A (p.Gln1615Lys)
 gnomAD v3 gnomAD v4
1g.169529775_169529783dupCA2649035389F5c.5246_5254dup (p.Cys1751_Gln1752insLeuIleCys)
c.5261_5269dup (p.Cys1756_Gln1757insLeuIleCys)
c.4835_4843dup (p.Cys1614_Gln1615insLeuIleCys)
 gnomAD v4
1g.169529774G>ACA421737926F5c.5253C>T (p.Cys1751=)
c.5268C>T (p.Cys1756=)
c.4842C>T (p.Cys1614=)
1g.169529774G>CCA343130964F5c.5253C>G (p.Cys1751Trp)
c.5268C>G (p.Cys1756Trp)
c.4842C>G (p.Cys1614Trp)
1g.169529774G>TCA343130963F5c.5253C>A (p.Cys1751Ter)
c.5268C>A (p.Cys1756Ter)
c.4842C>A (p.Cys1614Ter)
1g.169529775C>ACA343130965F5c.5252G>T (p.Cys1751Phe)
c.5267G>T (p.Cys1756Phe)
c.4841G>T (p.Cys1614Phe)
1g.169529775C>GCA343130966F5c.5252G>C (p.Cys1751Ser)
c.5267G>C (p.Cys1756Ser)
c.4841G>C (p.Cys1614Ser)
1g.169529775C>TCA343130969F5c.5252G>A (p.Cys1751Tyr)
c.5267G>A (p.Cys1756Tyr)
c.4841G>A (p.Cys1614Tyr)
1g.169529776A>CCA343130970F5c.5251T>G (p.Cys1751Gly)
c.5266T>G (p.Cys1756Gly)
c.4840T>G (p.Cys1614Gly)
1g.169529776A>GCA343130971F5c.5251T>C (p.Cys1751Arg)
c.5266T>C (p.Cys1756Arg)
c.4840T>C (p.Cys1614Arg)
1g.169529776A>TCA343130972F5c.5251T>A (p.Cys1751Ser)
c.5266T>A (p.Cys1756Ser)
c.4840T>A (p.Cys1614Ser)
1g.169529777G>ACA421737928F5c.5250C>T (p.Ile1750=)
c.5265C>T (p.Ile1755=)
c.4839C>T (p.Ile1613=)
1g.169529777G>CCA343130976F5c.5250C>G (p.Ile1750Met)
c.5265C>G (p.Ile1755Met)
c.4839C>G (p.Ile1613Met)
1g.169529777G>TCA421737929F5c.5250C>A (p.Ile1750=)
c.5265C>A (p.Ile1755=)
c.4839C>A (p.Ile1613=)
1g.169529778A>CCA343130986F5c.5249T>G (p.Ile1750Ser)
c.5264T>G (p.Ile1755Ser)
c.4838T>G (p.Ile1613Ser)
1g.169529778A>GCA343130988F5c.5249T>C (p.Ile1750Thr)
c.5264T>C (p.Ile1755Thr)
c.4838T>C (p.Ile1613Thr)
1g.169529778A>TCA343130990F5c.5249T>A (p.Ile1750Asn)
c.5264T>A (p.Ile1755Asn)
c.4838T>A (p.Ile1613Asn)
1g.169529779T>ACA343130998F5c.5248A>T (p.Ile1750Phe)
c.5263A>T (p.Ile1755Phe)
c.4837A>T (p.Ile1613Phe)
1g.169529779T>CCA343131001F5c.5248A>G (p.Ile1750Val)
c.5263A>G (p.Ile1755Val)
c.4837A>G (p.Ile1613Val)
1g.169529779T>GCA343131004F5c.5248A>C (p.Ile1750Leu)
c.5263A>C (p.Ile1755Leu)
c.4837A>C (p.Ile1613Leu)
1g.169529780T>ACA421737932F5c.5247A>T (p.Leu1749=)
c.5262A>T (p.Leu1754=)
c.4836A>T (p.Leu1612=)
1g.169529780T>CCA421737934F5c.5247A>G (p.Leu1749=)
c.5262A>G (p.Leu1754=)
c.4836A>G (p.Leu1612=)
1g.169529780T>GCA421737935F5c.5247A>C (p.Leu1749=)
c.5262A>C (p.Leu1754=)
c.4836A>C (p.Leu1612=)
1g.169529781A=CA1206135847F5c.5246T= (p.Leu1749=)
c.5261T= (p.Leu1754=)
c.4835T= (p.Leu1612=)
1g.169529781A>CCA343131015F5c.5246T>G (p.Leu1749Arg)
c.5261T>G (p.Leu1754Arg)
c.4835T>G (p.Leu1612Arg)
1g.169529781A>GCA343131011F5c.5246T>C (p.Leu1749Pro)
c.5261T>C (p.Leu1754Pro)
c.4835T>C (p.Leu1612Pro)
1g.169529781A>TCA343131009F5c.5246T>A (p.Leu1749Gln)
c.5261T>A (p.Leu1754Gln)
c.4835T>A (p.Leu1612Gln)
 dbSNP gnomAD v2 gnomAD v4
1g.169529782G>ACA421737938F5c.5245C>T (p.Leu1749=)
c.5260C>T (p.Leu1754=)
c.4834C>T (p.Leu1612=)
 gnomAD v4
1g.169529782G>CCA1233537F5c.5245C>G (p.Leu1749Val)
c.5260C>G (p.Leu1754Val)
c.4834C>G (p.Leu1612Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529782G=CA1139773088F5c.5245C= (p.Leu1749=)
c.5260C= (p.Leu1754=)
c.4834C= (p.Leu1612=)
1g.169529782G>TCA343131018F5c.5245C>A (p.Leu1749Ile)
c.5260C>A (p.Leu1754Ile)
c.4834C>A (p.Leu1612Ile)
1g.169529783G>ACA421737941F5c.5244C>T (p.Leu1748=)
c.5259C>T (p.Leu1753=)
c.4833C>T (p.Leu1611=)
 dbSNP gnomAD v3 gnomAD v4
1g.169529783G>CCA1233538F5c.5244C>G (p.Leu1748=)
c.5259C>G (p.Leu1753=)
c.4833C>G (p.Leu1611=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529783G=CA1206135848F5c.5244C= (p.Leu1748=)
c.5259C= (p.Leu1753=)
c.4833C= (p.Leu1611=)
1g.169529783G>TCA421737942F5c.5244C>A (p.Leu1748=)
c.5259C>A (p.Leu1753=)
c.4833C>A (p.Leu1611=)
1g.169529784A>CCA343131021F5c.5243T>G (p.Leu1748Arg)
c.5258T>G (p.Leu1753Arg)
c.4832T>G (p.Leu1611Arg)
1g.169529784A>GCA343131025F5c.5243T>C (p.Leu1748Pro)
c.5258T>C (p.Leu1753Pro)
c.4832T>C (p.Leu1611Pro)
 gnomAD v4
1g.169529784A>TCA343131027F5c.5243T>A (p.Leu1748His)
c.5258T>A (p.Leu1753His)
c.4832T>A (p.Leu1611His)
 ClinVar
1g.169529785G>ACA343131041F5c.5242C>T (p.Leu1748Phe)
c.5257C>T (p.Leu1753Phe)
c.4831C>T (p.Leu1611Phe)
 gnomAD v4
1g.169529785G>CCA343131035F5c.5242C>G (p.Leu1748Val)
c.5257C>G (p.Leu1753Val)
c.4831C>G (p.Leu1611Val)
1g.169529785G>TCA343131032F5c.5242C>A (p.Leu1748Ile)
c.5257C>A (p.Leu1753Ile)
c.4831C>A (p.Leu1611Ile)
1g.169529786G>ACA421737947F5c.5241C>T (p.Pro1747=)
c.5256C>T (p.Pro1752=)
c.4830C>T (p.Pro1610=)
1g.169529786G>CCA421737948F5c.5241C>G (p.Pro1747=)
c.5256C>G (p.Pro1752=)
c.4830C>G (p.Pro1610=)
 gnomAD v4
1g.169529786G>TCA421737950F5c.5241C>A (p.Pro1747=)
c.5256C>A (p.Pro1752=)
c.4830C>A (p.Pro1610=)
1g.169529787G>ACA343131047F5c.5240C>T (p.Pro1747Leu)
c.5255C>T (p.Pro1752Leu)
c.4829C>T (p.Pro1610Leu)
1g.169529787G>CCA343131050F5c.5240C>G (p.Pro1747Arg)
c.5255C>G (p.Pro1752Arg)
c.4829C>G (p.Pro1610Arg)
1g.169529787G>TCA343131053F5c.5240C>A (p.Pro1747His)
c.5255C>A (p.Pro1752His)
c.4829C>A (p.Pro1610His)
1g.169529788G>ACA343131059F5c.5239C>T (p.Pro1747Ser)
c.5254C>T (p.Pro1752Ser)
c.4828C>T (p.Pro1610Ser)
 dbSNP gnomAD v2
1g.169529788G>CCA1233539F5c.5239C>G (p.Pro1747Ala)
c.5254C>G (p.Pro1752Ala)
c.4828C>G (p.Pro1610Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529788G=CA1206135849F5c.5239C= (p.Pro1747=)
c.5254C= (p.Pro1752=)
c.4828C= (p.Pro1610=)
1g.169529788G>TCA343131076F5c.5239C>A (p.Pro1747Thr)
c.5254C>A (p.Pro1752Thr)
c.4828C>A (p.Pro1610Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.169529789A=CA1206135850F5c.5238T= (p.Gly1746=)
c.5253T= (p.Gly1751=)
c.4827T= (p.Gly1609=)
1g.169529789A>CCA421737954F5c.5238T>G (p.Gly1746=)
c.5253T>G (p.Gly1751=)
c.4827T>G (p.Gly1609=)
1g.169529789A>GCA421737955F5c.5238T>C (p.Gly1746=)
c.5253T>C (p.Gly1751=)
c.4827T>C (p.Gly1609=)
1g.169529789A>TCA421737956F5c.5238T>A (p.Gly1746=)
c.5253T>A (p.Gly1751=)
c.4827T>A (p.Gly1609=)
 dbSNP gnomAD v3 gnomAD v4
1g.169529790C>ACA343131085F5c.5237G>T (p.Gly1746Val)
c.5252G>T (p.Gly1751Val)
c.4826G>T (p.Gly1609Val)
 gnomAD v4
1g.169529790C>GCA343131102F5c.5237G>C (p.Gly1746Ala)
c.5252G>C (p.Gly1751Ala)
c.4826G>C (p.Gly1609Ala)
1g.169529790C>TCA343131099F5c.5237G>A (p.Gly1746Asp)
c.5252G>A (p.Gly1751Asp)
c.4826G>A (p.Gly1609Asp)
1g.169529791C>ACA343131108F5c.5236G>T (p.Gly1746Cys)
c.5251G>T (p.Gly1751Cys)
c.4825G>T (p.Gly1609Cys)
1g.169529791C=CA1206135851F5c.5236G= (p.Gly1746=)
c.5251G= (p.Gly1751=)
c.4825G= (p.Gly1609=)
1g.169529791C>GCA343131110F5c.5236G>C (p.Gly1746Arg)
c.5251G>C (p.Gly1751Arg)
c.4825G>C (p.Gly1609Arg)
 dbSNP
1g.169529791C>TCA343131111F5c.5236G>A (p.Gly1746Ser)
c.5251G>A (p.Gly1751Ser)
c.4825G>A (p.Gly1609Ser)
1g.169529792T>ACA421737960F5c.5235A>T (p.Ile1745=)
c.5250A>T (p.Ile1750=)
c.4824A>T (p.Ile1608=)
1g.169529792T>CCA343131112F5c.5235A>G (p.Ile1745Met)
c.5250A>G (p.Ile1750Met)
c.4824A>G (p.Ile1608Met)
1g.169529792T>GCA421737961F5c.5235A>C (p.Ile1745=)
c.5250A>C (p.Ile1750=)
c.4824A>C (p.Ile1608=)
1g.169529793A=CA1143418390F5c.5234T= (p.Ile1745=)
c.5249T= (p.Ile1750=)
c.4823T= (p.Ile1608=)
1g.169529793A>CCA343131116F5c.5234T>G (p.Ile1745Arg)
c.5249T>G (p.Ile1750Arg)
c.4823T>G (p.Ile1608Arg)
1g.169529793A>GCA32434904F5c.5234T>C (p.Ile1745Thr)
c.5249T>C (p.Ile1750Thr)
c.4823T>C (p.Ile1608Thr)
 dbSNP
1g.169529793A>TCA343131126F5c.5234T>A (p.Ile1745Lys)
c.5249T>A (p.Ile1750Lys)
c.4823T>A (p.Ile1608Lys)
 dbSNP
1g.169529794T>ACA343131129F5c.5233A>T (p.Ile1745Leu)
c.5248A>T (p.Ile1750Leu)
c.4822A>T (p.Ile1608Leu)
1g.169529794T>CCA343131133F5c.5233A>G (p.Ile1745Val)
c.5248A>G (p.Ile1750Val)
c.4822A>G (p.Ile1608Val)
1g.169529794T>GCA343131139F5c.5233A>C (p.Ile1745Leu)
c.5248A>C (p.Ile1750Leu)
c.4822A>C (p.Ile1608Leu)
1g.169529795C>ACA343131146F5c.5232G>T (p.Leu1744Phe)
c.5247G>T (p.Leu1749Phe)
c.4821G>T (p.Leu1607Phe)
1g.169529795C>GCA343131152F5c.5232G>C (p.Leu1744Phe)
c.5247G>C (p.Leu1749Phe)
c.4821G>C (p.Leu1607Phe)
 gnomAD v4
1g.169529795C>TCA421737964F5c.5232G>A (p.Leu1744=)
c.5247G>A (p.Leu1749=)
c.4821G>A (p.Leu1607=)
 COSMIC
1g.169529796A=CA1147506560F5c.5231T= (p.Leu1744=)
c.5246T= (p.Leu1749=)
c.4820T= (p.Leu1607=)
1g.169529796A>CCA343131197F5c.5231T>G (p.Leu1744Trp)
c.5246T>G (p.Leu1749Trp)
c.4820T>G (p.Leu1607Trp)
1g.169529796A>GCA1233540F5c.5231T>C (p.Leu1744Ser)
c.5246T>C (p.Leu1749Ser)
c.4820T>C (p.Leu1607Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529796A>TCA343131188F5c.5231T>A (p.Leu1744Ter)
c.5246T>A (p.Leu1749Ter)
c.4820T>A (p.Leu1607Ter)
1g.169529797A>CCA343131213F5c.5230T>G (p.Leu1744Val)
c.5245T>G (p.Leu1749Val)
c.4819T>G (p.Leu1607Val)
1g.169529797A>GCA421737969F5c.5230T>C (p.Leu1744=)
c.5245T>C (p.Leu1749=)
c.4819T>C (p.Leu1607=)
1g.169529797A>TCA343131233F5c.5230T>A (p.Leu1744Met)
c.5245T>A (p.Leu1749Met)
c.4819T>A (p.Leu1607Met)
 COSMIC
1g.169529798G>ACA421737970F5c.5229C>T (p.Gly1743=)
c.5244C>T (p.Gly1748=)
c.4818C>T (p.Gly1606=)
1g.169529798G>CCA421737971F5c.5229C>G (p.Gly1743=)
c.5244C>G (p.Gly1748=)
c.4818C>G (p.Gly1606=)
1g.169529798G>TCA421737972F5c.5229C>A (p.Gly1743=)
c.5244C>A (p.Gly1748=)
c.4818C>A (p.Gly1606=)
1g.169529799C>ACA343131237F5c.5228G>T (p.Gly1743Val)
c.5243G>T (p.Gly1748Val)
c.4817G>T (p.Gly1606Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529799C=CA1206135852F5c.5228G= (p.Gly1743=)
c.5243G= (p.Gly1748=)
c.4817G= (p.Gly1606=)
1g.169529799C>GCA343131238F5c.5228G>C (p.Gly1743Ala)
c.5243G>C (p.Gly1748Ala)
c.4817G>C (p.Gly1606Ala)
1g.169529799C>TCA343131239F5c.5228G>A (p.Gly1743Asp)
c.5243G>A (p.Gly1748Asp)
c.4817G>A (p.Gly1606Asp)
1g.169529800C>ACA343131242F5c.5227G>T (p.Gly1743Cys)
c.5242G>T (p.Gly1748Cys)
c.4816G>T (p.Gly1606Cys)
1g.169529800C>GCA343131247F5c.5227G>C (p.Gly1743Arg)
c.5242G>C (p.Gly1748Arg)
c.4816G>C (p.Gly1606Arg)
1g.169529800C>TCA343131249F5c.5227G>A (p.Gly1743Ser)
c.5242G>A (p.Gly1748Ser)
c.4816G>A (p.Gly1606Ser)
1g.169529801T>ACA421737975F5c.5226A>T (p.Ser1742=)
c.5241A>T (p.Ser1747=)
c.4815A>T (p.Ser1605=)
1g.169529801T>CCA421737976F5c.5226A>G (p.Ser1742=)
c.5241A>G (p.Ser1747=)
c.4815A>G (p.Ser1605=)
1g.169529801T>GCA421737977F5c.5226A>C (p.Ser1742=)
c.5241A>C (p.Ser1747=)
c.4815A>C (p.Ser1605=)
1g.169529802G>ACA343131252F5c.5225C>T (p.Ser1742Leu)
c.5240C>T (p.Ser1747Leu)
c.4814C>T (p.Ser1605Leu)
 gnomAD v4
1g.169529802G>CCA343131254F5c.5225C>G (p.Ser1742Ter)
c.5240C>G (p.Ser1747Ter)
c.4814C>G (p.Ser1605Ter)
1g.169529802G>TCA343131255F5c.5225C>A (p.Ser1742Ter)
c.5240C>A (p.Ser1747Ter)
c.4814C>A (p.Ser1605Ter)
1g.169529803A>CCA343131261F5c.5224T>G (p.Ser1742Ala)
c.5239T>G (p.Ser1747Ala)
c.4813T>G (p.Ser1605Ala)
1g.169529803A>GCA343131270F5c.5224T>C (p.Ser1742Pro)
c.5239T>C (p.Ser1747Pro)
c.4813T>C (p.Ser1605Pro)
1g.169529803A>TCA343131276F5c.5224T>A (p.Ser1742Thr)
c.5239T>A (p.Ser1747Thr)
c.4813T>A (p.Ser1605Thr)
1g.169529804G>ACA421737979F5c.5223C>T (p.His1741=)
c.5238C>T (p.His1746=)
c.4812C>T (p.His1604=)
 gnomAD v4
1g.169529804G>CCA343131298F5c.5223C>G (p.His1741Gln)
c.5238C>G (p.His1746Gln)
c.4812C>G (p.His1604Gln)
1g.169529804G>TCA343131283F5c.5223C>A (p.His1741Gln)
c.5238C>A (p.His1746Gln)
c.4812C>A (p.His1604Gln)
1g.169529805T>ACA343131302F5c.5222A>T (p.His1741Leu)
c.5237A>T (p.His1746Leu)
c.4811A>T (p.His1604Leu)
1g.169529805T>CCA343131304F5c.5222A>G (p.His1741Arg)
c.5237A>G (p.His1746Arg)
c.4811A>G (p.His1604Arg)
1g.169529805T>GCA343131308F5c.5222A>C (p.His1741Pro)
c.5237A>C (p.His1746Pro)
c.4811A>C (p.His1604Pro)
1g.169529806G>ACA343131310F5c.5221C>T (p.His1741Tyr)
c.5236C>T (p.His1746Tyr)
c.4810C>T (p.His1604Tyr)
 dbSNP
1g.169529806G>CCA343131311F5c.5221C>G (p.His1741Asp)
c.5236C>G (p.His1746Asp)
c.4810C>G (p.His1604Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.169529806G=CA1206135853F5c.5221C= (p.His1741=)
c.5236C= (p.His1746=)
c.4810C= (p.His1604=)
1g.169529806G>TCA343131313F5c.5221C>A (p.His1741Asn)
c.5236C>A (p.His1746Asn)
c.4810C>A (p.His1604Asn)
 gnomAD v4
1g.169529807A>CCA343131317F5c.5220T>G (p.Ile1740Met)
c.5235T>G (p.Ile1745Met)
c.4809T>G (p.Ile1603Met)
1g.169529807A>GCA421737984F5c.5220T>C (p.Ile1740=)
c.5235T>C (p.Ile1745=)
c.4809T>C (p.Ile1603=)
 ClinVar gnomAD v4
1g.169529807A>TCA421737986F5c.5220T>A (p.Ile1740=)
c.5235T>A (p.Ile1745=)
c.4809T>A (p.Ile1603=)
1g.169529808delCA2574085085F5c.5220del (p.His1741ThrfsTer4)
c.5235del (p.His1746ThrfsTer4)
c.4809del (p.His1604ThrfsTer4)
1g.169529808A=CA1206135854F5c.5219T= (p.Ile1740=)
c.5234T= (p.Ile1745=)
c.4808T= (p.Ile1603=)
1g.169529808A>CCA343131323F5c.5219T>G (p.Ile1740Ser)
c.5234T>G (p.Ile1745Ser)
c.4808T>G (p.Ile1603Ser)
 ClinVar dbSNP
1g.169529808A>GCA343131328F5c.5219T>C (p.Ile1740Thr)
c.5234T>C (p.Ile1745Thr)
c.4808T>C (p.Ile1603Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529808A>TCA343131332F5c.5219T>A (p.Ile1740Asn)
c.5234T>A (p.Ile1745Asn)
c.4808T>A (p.Ile1603Asn)
1g.169529809T>ACA343131337F5c.5218A>T (p.Ile1740Phe)
c.5233A>T (p.Ile1745Phe)
c.4807A>T (p.Ile1603Phe)
1g.169529809T>CCA343131354F5c.5218A>G (p.Ile1740Val)
c.5233A>G (p.Ile1745Val)
c.4807A>G (p.Ile1603Val)
1g.169529809T>GCA343131364F5c.5218A>C (p.Ile1740Leu)
c.5233A>C (p.Ile1745Leu)
c.4807A>C (p.Ile1603Leu)
1g.169529810A>CCA343131371F5c.5217T>G (p.Asp1739Glu)
c.5232T>G (p.Asp1744Glu)
c.4806T>G (p.Asp1602Glu)
1g.169529810A>GCA421737987F5c.5217T>C (p.Asp1739=)
c.5232T>C (p.Asp1744=)
c.4806T>C (p.Asp1602=)
1g.169529810A>TCA343131369F5c.5217T>A (p.Asp1739Glu)
c.5232T>A (p.Asp1744Glu)
c.4806T>A (p.Asp1602Glu)
1g.169529811T>ACA343131373F5c.5216A>T (p.Asp1739Val)
c.5231A>T (p.Asp1744Val)
c.4805A>T (p.Asp1602Val)
1g.169529811T>CCA1233541F5c.5216A>G (p.Asp1739Gly)
c.5231A>G (p.Asp1744Gly)
c.4805A>G (p.Asp1602Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529811T>GCA343131382F5c.5216A>C (p.Asp1739Ala)
c.5231A>C (p.Asp1744Ala)
c.4805A>C (p.Asp1602Ala)
1g.169529811T=CA1206135855F5c.5216A= (p.Asp1739=)
c.5231A= (p.Asp1744=)
c.4805A= (p.Asp1602=)
1g.169529812C>ACA343131395F5c.5215G>T (p.Asp1739Tyr)
c.5230G>T (p.Asp1744Tyr)
c.4804G>T (p.Asp1602Tyr)
1g.169529812C=CA1206135856F5c.5215G= (p.Asp1739=)
c.5230G= (p.Asp1744=)
c.4804G= (p.Asp1602=)
1g.169529812C>GCA343131399F5c.5215G>C (p.Asp1739His)
c.5230G>C (p.Asp1744His)
c.4804G>C (p.Asp1602His)
1g.169529812C>TCA1233542F5c.5215G>A (p.Asp1739Asn)
c.5230G>A (p.Asp1744Asn)
c.4804G>A (p.Asp1602Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529813T>ACA343131411F5c.5214A>T (p.Lys1738Asn)
c.5229A>T (p.Lys1743Asn)
c.4803A>T (p.Lys1601Asn)
 gnomAD v4
1g.169529813T>CCA421737988F5c.5214A>G (p.Lys1738=)
c.5229A>G (p.Lys1743=)
c.4803A>G (p.Lys1601=)
 gnomAD v4
1g.169529813T>GCA343131417F5c.5214A>C (p.Lys1738Asn)
c.5229A>C (p.Lys1743Asn)
c.4803A>C (p.Lys1601Asn)
 COSMIC
1g.169529817delCA2649035442F5c.5214del (p.Asp1739IlefsTer6)
c.5229del (p.Asp1744IlefsTer6)
c.4803del (p.Asp1602IlefsTer6)
 gnomAD v4
1g.169529814T>ACA343131424F5c.5213A>T (p.Lys1738Ile)
c.5228A>T (p.Lys1743Ile)
c.4802A>T (p.Lys1601Ile)
1g.169529814T>CCA343131429F5c.5213A>G (p.Lys1738Arg)
c.5228A>G (p.Lys1743Arg)
c.4802A>G (p.Lys1601Arg)
1g.169529814T>GCA343131434F5c.5213A>C (p.Lys1738Thr)
c.5228A>C (p.Lys1743Thr)
c.4802A>C (p.Lys1601Thr)
1g.169529815T>ACA343131438F5c.5212A>T (p.Lys1738Ter)
c.5227A>T (p.Lys1743Ter)
c.4801A>T (p.Lys1601Ter)
1g.169529815T>CCA1233543F5c.5212A>G (p.Lys1738Glu)
c.5227A>G (p.Lys1743Glu)
c.4801A>G (p.Lys1601Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529815T>GCA343131446F5c.5212A>C (p.Lys1738Gln)
c.5227A>C (p.Lys1743Gln)
c.4801A>C (p.Lys1601Gln)
1g.169529815T=CA1148259738F5c.5212A= (p.Lys1738=)
c.5227A= (p.Lys1743=)
c.4801A= (p.Lys1601=)
1g.169529816T>ACA343131447F5c.5211A>T (p.Glu1737Asp)
c.5226A>T (p.Glu1742Asp)
c.4800A>T (p.Glu1600Asp)
1g.169529816T>CCA421737989F5c.5211A>G (p.Glu1737=)
c.5226A>G (p.Glu1742=)
c.4800A>G (p.Glu1600=)
1g.169529816T>GCA343131448F5c.5211A>C (p.Glu1737Asp)
c.5226A>C (p.Glu1742Asp)
c.4800A>C (p.Glu1600Asp)
1g.169529817T>ACA343131449F5c.5210A>T (p.Glu1737Val)
c.5225A>T (p.Glu1742Val)
c.4799A>T (p.Glu1600Val)
1g.169529817T>CCA343131451F5c.5210A>G (p.Glu1737Gly)
c.5225A>G (p.Glu1742Gly)
c.4799A>G (p.Glu1600Gly)
1g.169529817T>GCA343131465F5c.5210A>C (p.Glu1737Ala)
c.5225A>C (p.Glu1742Ala)
c.4799A>C (p.Glu1600Ala)
1g.169529818C>ACA343131478F5c.5209G>T (p.Glu1737Ter)
c.5224G>T (p.Glu1742Ter)
c.4798G>T (p.Glu1600Ter)
1g.169529818C>GCA343131485F5c.5209G>C (p.Glu1737Gln)
c.5224G>C (p.Glu1742Gln)
c.4798G>C (p.Glu1600Gln)
1g.169529818C>TCA343131488F5c.5209G>A (p.Glu1737Lys)
c.5224G>A (p.Glu1742Lys)
c.4798G>A (p.Glu1600Lys)
1g.169529819C>ACA343131498F5c.5209-1G>T (n.5209-1G>T)
c.5224-1G>T (n.5224-1G>T)
c.4798-1G>T (n.4798-1G>T)
1g.169529819C>GCA343131503F5c.5209-1G>C (n.5209-1G>C)
c.5224-1G>C (n.5224-1G>C)
c.4798-1G>C (n.4798-1G>C)
1g.169529819C>TCA343131506F5c.5209-1G>A (n.5209-1G>A)
c.5224-1G>A (n.5224-1G>A)
c.4798-1G>A (n.4798-1G>A)
1g.169529820T>ACA343131519F5c.5209-2A>T (n.5209-2A>T)
c.5224-2A>T (n.5224-2A>T)
c.4798-2A>T (n.4798-2A>T)
1g.169529820T>CCA343131524F5c.5209-2A>G (n.5209-2A>G)
c.5224-2A>G (n.5224-2A>G)
c.4798-2A>G (n.4798-2A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169529820T>GCA343131525F5c.5209-2A>C (n.5209-2A>C)
c.5224-2A>C (n.5224-2A>C)
c.4798-2A>C (n.4798-2A>C)
1g.169529820T=CA1206135857F5c.5209-2A= (n.5209-2A=)
c.5224-2A= (n.5224-2A=)
c.4798-2A= (n.4798-2A=)
1g.169529821G>ACA1233544F5c.5209-3C>T (n.5209-3C>T)
c.5224-3C>T (n.5224-3C>T)
c.4798-3C>T (n.4798-3C>T)
 dbSNP ExAC gnomAD v2
1g.169529821G=CA1206135858F5c.5209-3C= (n.5209-3C=)
c.5224-3C= (n.5224-3C=)
c.4798-3C= (n.4798-3C=)
1g.169529822delCA2574085086F5c.5209-3del (n.5209-3del)
c.5224-3del (n.5224-3del)
c.4798-3del (n.4798-3del)
1g.169529822G>ACA1233545F5c.5209-4C>T (n.5209-4C>T)
c.5224-4C>T (n.5224-4C>T)
c.4798-4C>T (n.4798-4C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529822G=CA1143253988F5c.5209-4C= (n.5209-4C=)
c.5224-4C= (n.5224-4C=)
c.4798-4C= (n.4798-4C=)
1g.169529822G>TCA2649035448F5c.5209-4C>A (n.5209-4C>A)
c.5224-4C>A (n.5224-4C>A)
c.4798-4C>A (n.4798-4C>A)
 dbSNP gnomAD v4
1g.169529823A=CA1148405841F5c.5209-5T= (n.5209-5T=)
c.5224-5T= (n.5224-5T=)
c.4798-5T= (n.4798-5T=)
1g.169529823A>GCA1233546F5c.5209-5T>C (n.5209-5T>C)
c.5224-5T>C (n.5224-5T>C)
c.4798-5T>C (n.4798-5T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529827delCA2649035451F5c.5209-5del (n.5209-5del)
c.5224-5del (n.5224-5del)
c.4798-5del (n.4798-5del)
 gnomAD v4
1g.169529827A=CA1206135859F5c.5209-9T= (n.5209-9T=)
c.5224-9T= (n.5224-9T=)
c.4798-9T= (n.4798-9T=)
1g.169529827A>CCA890923507F5c.5209-9T>G (n.5209-9T>G)
c.5224-9T>G (n.5224-9T>G)
c.4798-9T>G (n.4798-9T>G)
 dbSNP gnomAD v4
1g.169529827A>GCA2649035454F5c.5209-9T>C (n.5209-9T>C)
c.5224-9T>C (n.5224-9T>C)
c.4798-9T>C (n.4798-9T>C)
 gnomAD v4
1g.169529828C=CA1206135861F5c.5209-10G= (n.5209-10G=)
c.5224-10G= (n.5224-10G=)
c.4798-10G= (n.4798-10G=)
1g.169529828C>GCA1233547F5c.5209-10G>C (n.5209-10G>C)
c.5224-10G>C (n.5224-10G>C)
c.4798-10G>C (n.4798-10G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529828_169529830delinsCAGCA1206135860F5c.5209-12_5209-10delinsCTG (n.5209-12_5209-10delinsCTG)
c.5224-12_5224-10delinsCTG (n.5224-12_5224-10delinsCTG)
c.4798-12_4798-10delinsCTG (n.4798-12_4798-10delinsCTG)
1g.169529831_169529832delCA10608709F5c.5209-12_5209-11del (n.5209-12_5209-11del)
c.5224-12_5224-11del (n.5224-12_5224-11del)
c.4798-12_4798-11del (n.4798-12_4798-11del)
 ClinVar dbSNP
1g.169529830G>ACA2649035459F5c.5209-12C>T (n.5209-12C>T)
c.5224-12C>T (n.5224-12C>T)
c.4798-12C>T (n.4798-12C>T)
 gnomAD v4
1g.169529831A=CA1206135862F5c.5209-13T= (n.5209-13T=)
c.5224-13T= (n.5224-13T=)
c.4798-13T= (n.4798-13T=)
1g.169529831A>GCA1206135863F5c.5209-13T>C (n.5209-13T>C)
c.5224-13T>C (n.5224-13T>C)
c.4798-13T>C (n.4798-13T>C)
 ClinVar dbSNP
1g.169529832G>ACA527131159F5c.5209-14C>T (n.5209-14C>T)
c.5224-14C>T (n.5224-14C>T)
c.4798-14C>T (n.4798-14C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529832G=CA1206135864F5c.5209-14C= (n.5209-14C=)
c.5224-14C= (n.5224-14C=)
c.4798-14C= (n.4798-14C=)
1g.169529832G>TCA2649035461F5c.5209-14C>A (n.5209-14C>A)
c.5224-14C>A (n.5224-14C>A)
c.4798-14C>A (n.4798-14C>A)
 gnomAD v4
1g.169529835A>GCA2649035463F5c.5209-17T>C (n.5209-17T>C)
c.5224-17T>C (n.5224-17T>C)
c.4798-17T>C (n.4798-17T>C)
 gnomAD v4
1g.169529837T>GCA527131160F5c.5209-19A>C (n.5209-19A>C)
c.5224-19A>C (n.5224-19A>C)
c.4798-19A>C (n.4798-19A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169529837T=CA1206135865F5c.5209-19A= (n.5209-19A=)
c.5224-19A= (n.5224-19A=)
c.4798-19A= (n.4798-19A=)
1g.169529838T>ACA1233548F5c.5209-20A>T (n.5209-20A>T)
c.5224-20A>T (n.5224-20A>T)
c.4798-20A>T (n.4798-20A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169529838T>CCA2574085087F5c.5209-20A>G (n.5209-20A>G)
c.5224-20A>G (n.5224-20A>G)
c.4798-20A>G (n.4798-20A>G)
1g.169529838T=CA1146189511F5c.5209-20A= (n.5209-20A=)
c.5224-20A= (n.5224-20A=)
c.4798-20A= (n.4798-20A=)
1g.169529839G>ACA1206135867F5c.5209-21C>T (n.5209-21C>T)
c.5224-21C>T (n.5224-21C>T)
c.4798-21C>T (n.4798-21C>T)
 dbSNP gnomAD v4
1g.169529839G=CA1206135866F5c.5209-21C= (n.5209-21C=)
c.5224-21C= (n.5224-21C=)
c.4798-21C= (n.4798-21C=)
1g.169529839G>TCA527131161F5c.5209-21C>A (n.5209-21C>A)
c.5224-21C>A (n.5224-21C>A)
c.4798-21C>A (n.4798-21C>A)
 dbSNP gnomAD v2
1g.169529840T>CCA2649035469F5c.5209-22A>G (n.5209-22A>G)
c.5224-22A>G (n.5224-22A>G)
c.4798-22A>G (n.4798-22A>G)
 gnomAD v4
1g.169529841A=CA1148477961F5c.5209-23T= (n.5209-23T=)
c.5224-23T= (n.5224-23T=)
c.4798-23T= (n.4798-23T=)
1g.169529841A>CCA2746574125F5c.5209-23T>G (n.5209-23T>G)
c.5224-23T>G (n.5224-23T>G)
c.4798-23T>G (n.4798-23T>G)
1g.169529841A>GCA1233549F5c.5209-23T>C (n.5209-23T>C)
c.5224-23T>C (n.5224-23T>C)
c.4798-23T>C (n.4798-23T>C)
 dbSNP ExAC gnomAD v4
1g.169529842T>CCA890923533F5c.5209-24A>G (n.5209-24A>G)
c.5224-24A>G (n.5224-24A>G)
c.4798-24A>G (n.4798-24A>G)
 dbSNP
1g.169529842T=CA1206135868F5c.5209-24A= (n.5209-24A=)
c.5224-24A= (n.5224-24A=)
c.4798-24A= (n.4798-24A=)
1g.169529843T>CCA2649035474F5c.5209-25A>G (n.5209-25A>G)
c.5224-25A>G (n.5224-25A>G)
c.4798-25A>G (n.4798-25A>G)
 gnomAD v4
1g.169529843T>GCA1233550F5c.5209-25A>C (n.5209-25A>C)
c.5224-25A>C (n.5224-25A>C)
c.4798-25A>C (n.4798-25A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169529843T=CA1206135869F5c.5209-25A= (n.5209-25A=)
c.5224-25A= (n.5224-25A=)
c.4798-25A= (n.4798-25A=)
1g.169529844G=CA1206135870F5c.5209-26C= (n.5209-26C=)
c.5224-26C= (n.5224-26C=)
c.4798-26C= (n.4798-26C=)
1g.169529844G>TCA1206135871F5c.5209-26C>A (n.5209-26C>A)
c.5224-26C>A (n.5224-26C>A)
c.4798-26C>A (n.4798-26C>A)
 dbSNP gnomAD v4
1g.169529845C=CA1206135872F5c.5209-27G= (n.5209-27G=)
c.5224-27G= (n.5224-27G=)
c.4798-27G= (n.4798-27G=)
1g.169529845C>TCA1206135873F5c.5209-27G>A (n.5209-27G>A)
c.5224-27G>A (n.5224-27G>A)
c.4798-27G>A (n.4798-27G>A)
 dbSNP
1g.169529846C=CA1206135874F5c.5209-28G= (n.5209-28G=)
c.5224-28G= (n.5224-28G=)
c.4798-28G= (n.4798-28G=)
1g.169529846C>TCA1233551F5c.5209-28G>A (n.5209-28G>A)
c.5224-28G>A (n.5224-28G>A)
c.4798-28G>A (n.4798-28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169529847T>ACA2649035482F5c.5209-29A>T (n.5209-29A>T)
c.5224-29A>T (n.5224-29A>T)
c.4798-29A>T (n.4798-29A>T)
 gnomAD v4
1g.169529848C>TCA2649035485F5c.5209-30G>A (n.5209-30G>A)
c.5224-30G>A (n.5224-30G>A)
c.4798-30G>A (n.4798-30G>A)
 gnomAD v4

Number of alleles fetched