Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121162092G>ACA383031236TBCEL-TECTA,TECTAc.4994G>A (p.Cys1665Tyr)
c.4979G>A (p.Cys1660Tyr)
c.2286G>A
n.915G>A
c.5936G>A (p.Cys1979Tyr)
 ClinVar dbSNP
11g.121162092G>CCA383031244TBCEL-TECTA,TECTAc.4994G>C (p.Cys1665Ser)
c.4979G>C (p.Cys1660Ser)
c.2286G>C
n.915G>C
c.5936G>C (p.Cys1979Ser)
11g.121162092G>TCA383031246TBCEL-TECTA,TECTAc.4994G>T (p.Cys1665Phe)
c.4979G>T (p.Cys1660Phe)
c.2286G>T
n.915G>T
c.5936G>T (p.Cys1979Phe)
11g.121162093C>ACA383031255TBCEL-TECTA,TECTAc.4995C>A (p.Cys1665Ter)
c.4980C>A (p.Cys1660Ter)
c.2287C>A
n.916C>A
c.5937C>A (p.Cys1979Ter)
11g.121162093C>GCA383031256TBCEL-TECTA,TECTAc.4995C>G (p.Cys1665Trp)
c.4980C>G (p.Cys1660Trp)
c.2287C>G
n.916C>G
c.5937C>G (p.Cys1979Trp)
11g.121162093C>TCA477384119TBCEL-TECTA,TECTAc.4995C>T (p.Cys1665=)
c.4980C>T (p.Cys1660=)
c.2287C>T
n.916C>T
c.5937C>T (p.Cys1979=)
 gnomAD v4
11g.121162094A=CA2004742838TBCEL-TECTA,TECTAc.4996A= (p.Asn1666=)
c.4981A= (p.Asn1661=)
c.2288A=
n.917A=
c.5938A= (p.Asn1980=)
11g.121162094A>CCA383031260TBCEL-TECTA,TECTAc.4996A>C (p.Asn1666His)
c.4981A>C (p.Asn1661His)
c.2288A>C
n.917A>C
c.5938A>C (p.Asn1980His)
11g.121162094A>GCA6327638TBCEL-TECTA,TECTAc.4996A>G (p.Asn1666Asp)
c.4981A>G (p.Asn1661Asp)
c.2288A>G
n.917A>G
c.5938A>G (p.Asn1980Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162094A>TCA383031263TBCEL-TECTA,TECTAc.4996A>T (p.Asn1666Tyr)
c.4981A>T (p.Asn1661Tyr)
c.2288A>T
n.917A>T
c.5938A>T (p.Asn1980Tyr)
11g.121162095A=CA2004742848TBCEL-TECTA,TECTAc.4997A= (p.Asn1666=)
c.4982A= (p.Asn1661=)
c.2289A=
n.918A=
c.5939A= (p.Asn1980=)
11g.121162095A>CCA383031272TBCEL-TECTA,TECTAc.4997A>C (p.Asn1666Thr)
c.4982A>C (p.Asn1661Thr)
c.2289A>C
n.918A>C
c.5939A>C (p.Asn1980Thr)
11g.121162095A>GCA383031276TBCEL-TECTA,TECTAc.4997A>G (p.Asn1666Ser)
c.4982A>G (p.Asn1661Ser)
c.2289A>G
n.918A>G
c.5939A>G (p.Asn1980Ser)
 dbSNP gnomAD v4
11g.121162095A>TCA383031275TBCEL-TECTA,TECTAc.4997A>T (p.Asn1666Ile)
c.4982A>T (p.Asn1661Ile)
c.2289A>T
n.918A>T
c.5939A>T (p.Asn1980Ile)
11g.121162096C>ACA383031277TBCEL-TECTA,TECTAc.4998C>A (p.Asn1666Lys)
c.4983C>A (p.Asn1661Lys)
c.2290C>A
n.919C>A
c.5940C>A (p.Asn1980Lys)
11g.121162096C=CA2004742853TBCEL-TECTA,TECTAc.4998C= (p.Asn1666=)
c.4983C= (p.Asn1661=)
c.2290C=
n.919C=
c.5940C= (p.Asn1980=)
11g.121162096C>GCA383031280TBCEL-TECTA,TECTAc.4998C>G (p.Asn1666Lys)
c.4983C>G (p.Asn1661Lys)
c.2290C>G
n.919C>G
c.5940C>G (p.Asn1980Lys)
 gnomAD v4
11g.121162096C>TCA6327639TBCEL-TECTA,TECTAc.4998C>T (p.Asn1666=)
c.4983C>T (p.Asn1661=)
c.2290C>T
n.919C>T
c.5940C>T (p.Asn1980=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.121162097G>ACA6327640TBCEL-TECTA,TECTAc.4999G>A (p.Glu1667Lys)
c.4984G>A (p.Glu1662Lys)
c.2291G>A
n.920G>A
c.5941G>A (p.Glu1981Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162097G>CCA383031293TBCEL-TECTA,TECTAc.4999G>C (p.Glu1667Gln)
c.4984G>C (p.Glu1662Gln)
c.2291G>C
n.920G>C
c.5941G>C (p.Glu1981Gln)
11g.121162097G=CA2004742859TBCEL-TECTA,TECTAc.4999G= (p.Glu1667=)
c.4984G= (p.Glu1662=)
c.2291G=
n.920G=
c.5941G= (p.Glu1981=)
11g.121162097G>TCA383031296TBCEL-TECTA,TECTAc.4999G>T (p.Glu1667Ter)
c.4984G>T (p.Glu1662Ter)
c.2291G>T
n.920G>T
c.5941G>T (p.Glu1981Ter)
11g.121162098A=CA2004742867TBCEL-TECTA,TECTAc.5000A= (p.Glu1667=)
c.4985A= (p.Glu1662=)
c.2292A=
n.921A=
c.5942A= (p.Glu1981=)
11g.121162098A>CCA383031299TBCEL-TECTA,TECTAc.5000A>C (p.Glu1667Ala)
c.4985A>C (p.Glu1662Ala)
c.2292A>C
n.921A>C
c.5942A>C (p.Glu1981Ala)
 gnomAD v4
11g.121162098A>GCA6327641TBCEL-TECTA,TECTAc.5000A>G (p.Glu1667Gly)
c.4985A>G (p.Glu1662Gly)
c.2292A>G
n.921A>G
c.5942A>G (p.Glu1981Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162098A>TCA383031302TBCEL-TECTA,TECTAc.5000A>T (p.Glu1667Val)
c.4985A>T (p.Glu1662Val)
c.2292A>T
n.921A>T
c.5942A>T (p.Glu1981Val)
11g.121162099G>ACA477384120TBCEL-TECTA,TECTAc.5001G>A (p.Glu1667=)
c.4986G>A (p.Glu1662=)
c.2293G>A
n.922G>A
c.5943G>A (p.Glu1981=)
 dbSNP gnomAD v2 gnomAD v4
11g.121162099G>CCA383031306TBCEL-TECTA,TECTAc.5001G>C (p.Glu1667Asp)
c.4986G>C (p.Glu1662Asp)
c.2293G>C
n.922G>C
c.5943G>C (p.Glu1981Asp)
11g.121162099G=CA2004742873TBCEL-TECTA,TECTAc.5001G= (p.Glu1667=)
c.4986G= (p.Glu1662=)
c.2293G=
n.922G=
c.5943G= (p.Glu1981=)
11g.121162099G>TCA383031309TBCEL-TECTA,TECTAc.5001G>T (p.Glu1667Asp)
c.4986G>T (p.Glu1662Asp)
c.2293G>T
n.922G>T
c.5943G>T (p.Glu1981Asp)
 dbSNP gnomAD v3 gnomAD v4
11g.121162100C>ACA383031312TBCEL-TECTA,TECTAc.5002C>A (p.Leu1668Met)
c.4987C>A (p.Leu1663Met)
c.2294C>A
n.923C>A
c.5944C>A (p.Leu1982Met)
11g.121162100C>GCA383031316TBCEL-TECTA,TECTAc.5002C>G (p.Leu1668Val)
c.4987C>G (p.Leu1663Val)
c.2294C>G
n.923C>G
c.5944C>G (p.Leu1982Val)
11g.121162100C>TCA477384121TBCEL-TECTA,TECTAc.5002C>T (p.Leu1668=)
c.4987C>T (p.Leu1663=)
c.2294C>T
n.923C>T
c.5944C>T (p.Leu1982=)
11g.121162101T>ACA383031321TBCEL-TECTA,TECTAc.5003T>A (p.Leu1668Gln)
c.4988T>A (p.Leu1663Gln)
c.2295T>A
n.924T>A
c.5945T>A (p.Leu1982Gln)
11g.121162101T>CCA383031331TBCEL-TECTA,TECTAc.5003T>C (p.Leu1668Pro)
c.4988T>C (p.Leu1663Pro)
c.2295T>C
n.924T>C
c.5945T>C (p.Leu1982Pro)
11g.121162101T>GCA383031329TBCEL-TECTA,TECTAc.5003T>G (p.Leu1668Arg)
c.4988T>G (p.Leu1663Arg)
c.2295T>G
n.924T>G
c.5945T>G (p.Leu1982Arg)
11g.121162102G>ACA477384124TBCEL-TECTA,TECTAc.5004G>A (p.Leu1668=)
c.4989G>A (p.Leu1663=)
c.2296G>A
n.925G>A
c.5946G>A (p.Leu1982=)
 dbSNP
11g.121162102G>CCA477384123TBCEL-TECTA,TECTAc.5004G>C (p.Leu1668=)
c.4989G>C (p.Leu1663=)
c.2296G>C
n.925G>C
c.5946G>C (p.Leu1982=)
11g.121162102G=CA2004742880TBCEL-TECTA,TECTAc.5004G= (p.Leu1668=)
c.4989G= (p.Leu1663=)
c.2296G=
n.925G=
c.5946G= (p.Leu1982=)
11g.121162102G>TCA477384122TBCEL-TECTA,TECTAc.5004G>T (p.Leu1668=)
c.4989G>T (p.Leu1663=)
c.2296G>T
n.925G>T
c.5946G>T (p.Leu1982=)
11g.121162103C>ACA383031332TBCEL-TECTA,TECTAc.5005C>A (p.Gln1669Lys)
c.4990C>A (p.Gln1664Lys)
c.2297C>A
n.926C>A
c.5947C>A (p.Gln1983Lys)
11g.121162103C=CA2004742885TBCEL-TECTA,TECTAc.5005C= (p.Gln1669=)
c.4990C= (p.Gln1664=)
c.2297C=
n.926C=
c.5947C= (p.Gln1983=)
11g.121162103C>GCA383031335TBCEL-TECTA,TECTAc.5005C>G (p.Gln1669Glu)
c.4990C>G (p.Gln1664Glu)
c.2297C>G
n.926C>G
c.5947C>G (p.Gln1983Glu)
11g.121162103C>TCA383031333TBCEL-TECTA,TECTAc.5005C>T (p.Gln1669Ter)
c.4990C>T (p.Gln1664Ter)
c.2297C>T
n.926C>T
c.5947C>T (p.Gln1983Ter)
 dbSNP gnomAD v4
11g.121162104A=CA2004742892TBCEL-TECTA,TECTAc.5006A= (p.Gln1669=)
c.4991A= (p.Gln1664=)
c.2298A=
n.927A=
c.5948A= (p.Gln1983=)
11g.121162104A>CCA383031339TBCEL-TECTA,TECTAc.5006A>C (p.Gln1669Pro)
c.4991A>C (p.Gln1664Pro)
c.2298A>C
n.927A>C
c.5948A>C (p.Gln1983Pro)
11g.121162104A>GCA383031341TBCEL-TECTA,TECTAc.5006A>G (p.Gln1669Arg)
c.4991A>G (p.Gln1664Arg)
c.2298A>G
n.927A>G
c.5948A>G (p.Gln1983Arg)
 ClinVar dbSNP gnomAD v4
11g.121162104A>TCA383031342TBCEL-TECTA,TECTAc.5006A>T (p.Gln1669Leu)
c.4991A>T (p.Gln1664Leu)
c.2298A>T
n.927A>T
c.5948A>T (p.Gln1983Leu)
11g.121162105G>ACA477384125TBCEL-TECTA,TECTAc.5007G>A (p.Gln1669=)
c.4992G>A (p.Gln1664=)
c.2299G>A
n.928G>A
c.5949G>A (p.Gln1983=)
11g.121162105G>CCA383031343TBCEL-TECTA,TECTAc.5007G>C (p.Gln1669His)
c.4992G>C (p.Gln1664His)
c.2299G>C
n.928G>C
c.5949G>C (p.Gln1983His)
 gnomAD v4
11g.121162105G=CA2004742901TBCEL-TECTA,TECTAc.5007G= (p.Gln1669=)
c.4992G= (p.Gln1664=)
c.2299G=
n.928G=
c.5949G= (p.Gln1983=)
11g.121162105G>TCA229847627TBCEL-TECTA,TECTAc.5007G>T (p.Gln1669His)
c.4992G>T (p.Gln1664His)
c.2299G>T
n.928G>T
c.5949G>T (p.Gln1983His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121162106T>ACA383031345TBCEL-TECTA,TECTAc.5008T>A (p.Phe1670Ile)
c.4993T>A (p.Phe1665Ile)
c.2300T>A
n.929T>A
c.5950T>A (p.Phe1984Ile)
11g.121162106T>CCA383031346TBCEL-TECTA,TECTAc.5008T>C (p.Phe1670Leu)
c.4993T>C (p.Phe1665Leu)
c.2300T>C
n.929T>C
c.5950T>C (p.Phe1984Leu)
11g.121162106T>GCA383031349TBCEL-TECTA,TECTAc.5008T>G (p.Phe1670Val)
c.4993T>G (p.Phe1665Val)
c.2300T>G
n.929T>G
c.5950T>G (p.Phe1984Val)
11g.121162107T>ACA383031351TBCEL-TECTA,TECTAc.5009T>A (p.Phe1670Tyr)
c.4994T>A (p.Phe1665Tyr)
c.2301T>A
n.930T>A
c.5951T>A (p.Phe1984Tyr)
11g.121162107T>CCA383031353TBCEL-TECTA,TECTAc.5009T>C (p.Phe1670Ser)
c.4994T>C (p.Phe1665Ser)
c.2301T>C
n.930T>C
c.5951T>C (p.Phe1984Ser)
11g.121162107T>GCA383031356TBCEL-TECTA,TECTAc.5009T>G (p.Phe1670Cys)
c.4994T>G (p.Phe1665Cys)
c.2301T>G
n.930T>G
c.5951T>G (p.Phe1984Cys)
11g.121162108C>ACA383031360TBCEL-TECTA,TECTAc.5010C>A (p.Phe1670Leu)
c.4995C>A (p.Phe1665Leu)
c.2302C>A
n.931C>A
c.5952C>A (p.Phe1984Leu)
 COSMIC
11g.121162108C>GCA383031358TBCEL-TECTA,TECTAc.5010C>G (p.Phe1670Leu)
c.4995C>G (p.Phe1665Leu)
c.2302C>G
n.931C>G
c.5952C>G (p.Phe1984Leu)
 gnomAD v4
11g.121162108C>TCA477384126TBCEL-TECTA,TECTAc.5010C>T (p.Phe1670=)
c.4995C>T (p.Phe1665=)
c.2302C>T
n.931C>T
c.5952C>T (p.Phe1984=)
11g.121162109T>ACA383031362TBCEL-TECTA,TECTAc.5011T>A (p.Ser1671Thr)
c.4996T>A (p.Ser1666Thr)
c.2303T>A
n.932T>A
c.5953T>A (p.Ser1985Thr)
11g.121162109T>CCA383031364TBCEL-TECTA,TECTAc.5011T>C (p.Ser1671Pro)
c.4996T>C (p.Ser1666Pro)
c.2303T>C
n.932T>C
c.5953T>C (p.Ser1985Pro)
 ClinVar dbSNP gnomAD v2
11g.121162109T>GCA383031367TBCEL-TECTA,TECTAc.5011T>G (p.Ser1671Ala)
c.4996T>G (p.Ser1666Ala)
c.2303T>G
n.932T>G
c.5953T>G (p.Ser1985Ala)
11g.121162109T=CA2004742910TBCEL-TECTA,TECTAc.5011T= (p.Ser1671=)
c.4996T= (p.Ser1666=)
c.2303T=
n.932T=
c.5953T= (p.Ser1985=)
11g.121162110C>ACA383031368TBCEL-TECTA,TECTAc.5012C>A (p.Ser1671Ter)
c.4997C>A (p.Ser1666Ter)
c.2304C>A
n.933C>A
c.5954C>A (p.Ser1985Ter)
11g.121162110C=CA2004742923TBCEL-TECTA,TECTAc.5012C= (p.Ser1671=)
c.4997C= (p.Ser1666=)
c.2304C=
n.933C=
c.5954C= (p.Ser1985=)
11g.121162110C>GCA383031369TBCEL-TECTA,TECTAc.5012C>G (p.Ser1671Ter)
c.4997C>G (p.Ser1666Ter)
c.2304C>G
n.933C>G
c.5954C>G (p.Ser1985Ter)
11g.121162110C>TCA136059TBCEL-TECTA,TECTAc.5012C>T (p.Ser1671Leu)
c.4997C>T (p.Ser1666Leu)
c.2304C>T
n.933C>T
c.5954C>T (p.Ser1985Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162111A>CCA477384127TBCEL-TECTA,TECTAc.5013A>C (p.Ser1671=)
c.4998A>C (p.Ser1666=)
c.2305A>C
n.934A>C
c.5955A>C (p.Ser1985=)
11g.121162111A>GCA477384128TBCEL-TECTA,TECTAc.5013A>G (p.Ser1671=)
c.4998A>G (p.Ser1666=)
c.2305A>G
n.934A>G
c.5955A>G (p.Ser1985=)
 gnomAD v4
11g.121162111A>TCA477384129TBCEL-TECTA,TECTAc.5013A>T (p.Ser1671=)
c.4998A>T (p.Ser1666=)
c.2305A>T
n.934A>T
c.5955A>T (p.Ser1985=)
11g.121162112C>ACA383031372TBCEL-TECTA,TECTAc.5014C>A (p.Gln1672Lys)
c.4999C>A (p.Gln1667Lys)
c.2306C>A
n.935C>A
c.5956C>A (p.Gln1986Lys)
11g.121162112C>GCA383031373TBCEL-TECTA,TECTAc.5014C>G (p.Gln1672Glu)
c.4999C>G (p.Gln1667Glu)
c.2306C>G
n.935C>G
c.5956C>G (p.Gln1986Glu)
11g.121162112C>TCA383031376TBCEL-TECTA,TECTAc.5014C>T (p.Gln1672Ter)
c.4999C>T (p.Gln1667Ter)
c.2306C>T
n.935C>T
c.5956C>T (p.Gln1986Ter)
 gnomAD v4
11g.121162113A=CA2004742936TBCEL-TECTA,TECTAc.5015A= (p.Gln1672=)
c.5000A= (p.Gln1667=)
c.2307A=
n.936A=
c.5957A= (p.Gln1986=)
11g.121162113A>CCA383031378TBCEL-TECTA,TECTAc.5015A>C (p.Gln1672Pro)
c.5000A>C (p.Gln1667Pro)
c.2307A>C
n.936A>C
c.5957A>C (p.Gln1986Pro)
11g.121162113A>GCA383031380TBCEL-TECTA,TECTAc.5015A>G (p.Gln1672Arg)
c.5000A>G (p.Gln1667Arg)
c.2307A>G
n.936A>G
c.5957A>G (p.Gln1986Arg)
 gnomAD v4 COSMIC
11g.121162113A>TCA383031382TBCEL-TECTA,TECTAc.5015A>T (p.Gln1672Leu)
c.5000A>T (p.Gln1667Leu)
c.2307A>T
n.936A>T
c.5957A>T (p.Gln1986Leu)
 dbSNP
11g.121162114G>ACA477384130TBCEL-TECTA,TECTAc.5016G>A (p.Gln1672=)
c.5001G>A (p.Gln1667=)
c.2308G>A
n.937G>A
c.5958G>A (p.Gln1986=)
11g.121162114G>CCA383031387TBCEL-TECTA,TECTAc.5016G>C (p.Gln1672His)
c.5001G>C (p.Gln1667His)
c.2308G>C
n.937G>C
c.5958G>C (p.Gln1986His)
11g.121162114G=CA2004742944TBCEL-TECTA,TECTAc.5016G= (p.Gln1672=)
c.5001G= (p.Gln1667=)
c.2308G=
n.937G=
c.5958G= (p.Gln1986=)
11g.121162114G>TCA383031385TBCEL-TECTA,TECTAc.5016G>T (p.Gln1672His)
c.5001G>T (p.Gln1667His)
c.2308G>T
n.937G>T
c.5958G>T (p.Gln1986His)
 dbSNP
11g.121162115T>ACA383031388TBCEL-TECTA,TECTAc.5017T>A (p.Tyr1673Asn)
c.5002T>A (p.Tyr1668Asn)
c.2309T>A
n.938T>A
c.5959T>A (p.Tyr1987Asn)
11g.121162115T>CCA6327642TBCEL-TECTA,TECTAc.5017T>C (p.Tyr1673His)
c.5002T>C (p.Tyr1668His)
c.2309T>C
n.938T>C
c.5959T>C (p.Tyr1987His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162115T>GCA383031389TBCEL-TECTA,TECTAc.5017T>G (p.Tyr1673Asp)
c.5002T>G (p.Tyr1668Asp)
c.2309T>G
n.938T>G
c.5959T>G (p.Tyr1987Asp)
11g.121162115T=CA2004742954TBCEL-TECTA,TECTAc.5017T= (p.Tyr1673=)
c.5002T= (p.Tyr1668=)
c.2309T=
n.938T=
c.5959T= (p.Tyr1987=)
11g.121162116A>CCA383031392TBCEL-TECTA,TECTAc.5018A>C (p.Tyr1673Ser)
c.5003A>C (p.Tyr1668Ser)
c.2310A>C
n.939A>C
c.5960A>C (p.Tyr1987Ser)
11g.121162116A>GCA383031393TBCEL-TECTA,TECTAc.5018A>G (p.Tyr1673Cys)
c.5003A>G (p.Tyr1668Cys)
c.2310A>G
n.939A>G
c.5960A>G (p.Tyr1987Cys)
11g.121162116A>TCA383031396TBCEL-TECTA,TECTAc.5018A>T (p.Tyr1673Phe)
c.5003A>T (p.Tyr1668Phe)
c.2310A>T
n.939A>T
c.5960A>T (p.Tyr1987Phe)
11g.121162117T>ACA383031398TBCEL-TECTA,TECTAc.5019T>A (p.Tyr1673Ter)
c.5004T>A (p.Tyr1668Ter)
c.2311T>A
n.940T>A
c.5961T>A (p.Tyr1987Ter)
11g.121162117T>CCA477384131TBCEL-TECTA,TECTAc.5019T>C (p.Tyr1673=)
c.5004T>C (p.Tyr1668=)
c.2311T>C
n.940T>C
c.5961T>C (p.Tyr1987=)
 gnomAD v4
11g.121162117T>GCA383031397TBCEL-TECTA,TECTAc.5019T>G (p.Tyr1673Ter)
c.5004T>G (p.Tyr1668Ter)
c.2311T>G
n.940T>G
c.5961T>G (p.Tyr1987Ter)
11g.121162118G>ACA383031400TBCEL-TECTA,TECTAc.5020G>A (p.Ala1674Thr)
c.5005G>A (p.Ala1669Thr)
c.2312G>A
n.941G>A
c.5962G>A (p.Ala1988Thr)
11g.121162118G>CCA383031403TBCEL-TECTA,TECTAc.5020G>C (p.Ala1674Pro)
c.5005G>C (p.Ala1669Pro)
c.2312G>C
n.941G>C
c.5962G>C (p.Ala1988Pro)
11g.121162118G>TCA383031405TBCEL-TECTA,TECTAc.5020G>T (p.Ala1674Ser)
c.5005G>T (p.Ala1669Ser)
c.2312G>T
n.941G>T
c.5962G>T (p.Ala1988Ser)
11g.121162119C>ACA383031408TBCEL-TECTA,TECTAc.5021C>A (p.Ala1674Glu)
c.5006C>A (p.Ala1669Glu)
c.2313C>A
n.942C>A
c.5963C>A (p.Ala1988Glu)
11g.121162119C>GCA383031409TBCEL-TECTA,TECTAc.5021C>G (p.Ala1674Gly)
c.5006C>G (p.Ala1669Gly)
c.2313C>G
n.942C>G
c.5963C>G (p.Ala1988Gly)
11g.121162119C>TCA383031411TBCEL-TECTA,TECTAc.5021C>T (p.Ala1674Val)
c.5006C>T (p.Ala1669Val)
c.2313C>T
n.942C>T
c.5963C>T (p.Ala1988Val)
11g.121162120A=CA2004742958TBCEL-TECTA,TECTAc.5022A= (p.Ala1674=)
c.5007A= (p.Ala1669=)
c.2314A=
n.943A=
c.5964A= (p.Ala1988=)
11g.121162120A>CCA477384132TBCEL-TECTA,TECTAc.5022A>C (p.Ala1674=)
c.5007A>C (p.Ala1669=)
c.2314A>C
n.943A>C
c.5964A>C (p.Ala1988=)
 dbSNP
11g.121162120A>GCA477384133TBCEL-TECTA,TECTAc.5022A>G (p.Ala1674=)
c.5007A>G (p.Ala1669=)
c.2314A>G
n.943A>G
c.5964A>G (p.Ala1988=)
11g.121162120A>TCA477384134TBCEL-TECTA,TECTAc.5022A>T (p.Ala1674=)
c.5007A>T (p.Ala1669=)
c.2314A>T
n.943A>T
c.5964A>T (p.Ala1988=)
11g.121162121G>ACA383031414TBCEL-TECTA,TECTAc.5023G>A (p.Ala1675Thr)
c.5008G>A (p.Ala1670Thr)
c.2315G>A
n.944G>A
c.5965G>A (p.Ala1989Thr)
 gnomAD v4
11g.121162121G>CCA383031418TBCEL-TECTA,TECTAc.5023G>C (p.Ala1675Pro)
c.5008G>C (p.Ala1670Pro)
c.2315G>C
n.944G>C
c.5965G>C (p.Ala1989Pro)
11g.121162121G>TCA383031416TBCEL-TECTA,TECTAc.5023G>T (p.Ala1675Ser)
c.5008G>T (p.Ala1670Ser)
c.2315G>T
n.944G>T
c.5965G>T (p.Ala1989Ser)
11g.121162122C>ACA383031419TBCEL-TECTA,TECTAc.5024C>A (p.Ala1675Asp)
c.5009C>A (p.Ala1670Asp)
c.2316C>A
n.945C>A
c.5966C>A (p.Ala1989Asp)
11g.121162122C=CA2004742964TBCEL-TECTA,TECTAc.5024C= (p.Ala1675=)
c.5009C= (p.Ala1670=)
c.2316C=
n.945C=
c.5966C= (p.Ala1989=)
11g.121162122C>GCA383031421TBCEL-TECTA,TECTAc.5024C>G (p.Ala1675Gly)
c.5009C>G (p.Ala1670Gly)
c.2316C>G
n.945C>G
c.5966C>G (p.Ala1989Gly)
 dbSNP
11g.121162122C>TCA383031423TBCEL-TECTA,TECTAc.5024C>T (p.Ala1675Val)
c.5009C>T (p.Ala1670Val)
c.2316C>T
n.945C>T
c.5966C>T (p.Ala1989Val)
 dbSNP gnomAD v4
11g.121162123C>ACA477384137TBCEL-TECTA,TECTAc.5025C>A (p.Ala1675=)
c.5010C>A (p.Ala1670=)
c.2317C>A
n.946C>A
c.5967C>A (p.Ala1989=)
11g.121162123C>GCA477384135TBCEL-TECTA,TECTAc.5025C>G (p.Ala1675=)
c.5010C>G (p.Ala1670=)
c.2317C>G
n.946C>G
c.5967C>G (p.Ala1989=)
11g.121162123C>TCA477384136TBCEL-TECTA,TECTAc.5025C>T (p.Ala1675=)
c.5010C>T (p.Ala1670=)
c.2317C>T
n.946C>T
c.5967C>T (p.Ala1989=)
11g.121162123_121162125delCA2501587420TBCEL-TECTA,TECTAc.5025_5027del (p.Met1676del)
c.5010_5012del (p.Met1671del)
c.2317_2319del
n.946_948del
c.5967_5969del (p.Met1990del)
11g.121162124A=CA2004742972TBCEL-TECTA,TECTAc.5026A= (p.Met1676=)
c.5011A= (p.Met1671=)
c.2318A=
n.947A=
c.5968A= (p.Met1990=)
11g.121162124A>CCA383031425TBCEL-TECTA,TECTAc.5026A>C (p.Met1676Leu)
c.5011A>C (p.Met1671Leu)
c.2318A>C
n.947A>C
c.5968A>C (p.Met1990Leu)
11g.121162124A>GCA229847634TBCEL-TECTA,TECTAc.5026A>G (p.Met1676Val)
c.5011A>G (p.Met1671Val)
c.2318A>G
n.947A>G
c.5968A>G (p.Met1990Val)
 dbSNP gnomAD v4
11g.121162124A>TCA383031429TBCEL-TECTA,TECTAc.5026A>T (p.Met1676Leu)
c.5011A>T (p.Met1671Leu)
c.2318A>T
n.947A>T
c.5968A>T (p.Met1990Leu)
11g.121162125T>ACA383031432TBCEL-TECTA,TECTAc.5027T>A (p.Met1676Lys)
c.5012T>A (p.Met1671Lys)
c.2319T>A
n.948T>A
c.5969T>A (p.Met1990Lys)
11g.121162125T>CCA383031433TBCEL-TECTA,TECTAc.5027T>C (p.Met1676Thr)
c.5012T>C (p.Met1671Thr)
c.2319T>C
n.948T>C
c.5969T>C (p.Met1990Thr)
 dbSNP
11g.121162125T>GCA383031436TBCEL-TECTA,TECTAc.5027T>G (p.Met1676Arg)
c.5012T>G (p.Met1671Arg)
c.2319T>G
n.948T>G
c.5969T>G (p.Met1990Arg)
11g.121162125T=CA2004742975TBCEL-TECTA,TECTAc.5027T= (p.Met1676=)
c.5012T= (p.Met1671=)
c.2319T=
n.948T=
c.5969T= (p.Met1990=)
11g.121162126G>ACA383031438TBCEL-TECTA,TECTAc.5028G>A (p.Met1676Ile)
c.5013G>A (p.Met1671Ile)
c.2320G>A
n.949G>A
c.5970G>A (p.Met1990Ile)
11g.121162126G>CCA383031440TBCEL-TECTA,TECTAc.5028G>C (p.Met1676Ile)
c.5013G>C (p.Met1671Ile)
c.2320G>C
n.949G>C
c.5970G>C (p.Met1990Ile)
11g.121162126G=CA2004742981TBCEL-TECTA,TECTAc.5028G= (p.Met1676=)
c.5013G= (p.Met1671=)
c.2320G=
n.949G=
c.5970G= (p.Met1990=)
11g.121162126G>TCA383031443TBCEL-TECTA,TECTAc.5028G>T (p.Met1676Ile)
c.5013G>T (p.Met1671Ile)
c.2320G>T
n.949G>T
c.5970G>T (p.Met1990Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.121162127T>ACA383031450TBCEL-TECTA,TECTAc.5029T>A (p.Cys1677Ser)
c.5014T>A (p.Cys1672Ser)
c.2321T>A
n.950T>A
c.5971T>A (p.Cys1991Ser)
11g.121162127T>CCA383031447TBCEL-TECTA,TECTAc.5029T>C (p.Cys1677Arg)
c.5014T>C (p.Cys1672Arg)
c.2321T>C
n.950T>C
c.5971T>C (p.Cys1991Arg)
11g.121162127T>GCA383031446TBCEL-TECTA,TECTAc.5029T>G (p.Cys1677Gly)
c.5014T>G (p.Cys1672Gly)
c.2321T>G
n.950T>G
c.5971T>G (p.Cys1991Gly)
11g.121162127_121162128insCCTCA2554595554TBCEL-TECTA,TECTAc.5029_5030insCCT (p.Met1676_Cys1677insSer)
c.5014_5015insCCT (p.Met1671_Cys1672insSer)
c.2321_2322insCCT
n.950_951insCCT
c.5971_5972insCCT (p.Met1990_Cys1991insSer)
11g.121162128G>ACA383031455TBCEL-TECTA,TECTAc.5030G>A (p.Cys1677Tyr)
c.5015G>A (p.Cys1672Tyr)
c.2322G>A
n.951G>A
c.5972G>A (p.Cys1991Tyr)
11g.121162128G>CCA383031453TBCEL-TECTA,TECTAc.5030G>C (p.Cys1677Ser)
c.5015G>C (p.Cys1672Ser)
c.2322G>C
n.951G>C
c.5972G>C (p.Cys1991Ser)
11g.121162128G=CA2004742987TBCEL-TECTA,TECTAc.5030G= (p.Cys1677=)
c.5015G= (p.Cys1672=)
c.2322G=
n.951G=
c.5972G= (p.Cys1991=)
11g.121162128G>TCA6327643TBCEL-TECTA,TECTAc.5030G>T (p.Cys1677Phe)
c.5015G>T (p.Cys1672Phe)
c.2322G>T
n.951G>T
c.5972G>T (p.Cys1991Phe)
 ClinVar dbSNP ExAC
11g.121162129T>ACA383031459TBCEL-TECTA,TECTAc.5031T>A (p.Cys1677Ter)
c.5016T>A (p.Cys1672Ter)
c.2323T>A
n.952T>A
c.5973T>A (p.Cys1991Ter)
11g.121162129T>CCA477384138TBCEL-TECTA,TECTAc.5031T>C (p.Cys1677=)
c.5016T>C (p.Cys1672=)
c.2323T>C
n.952T>C
c.5973T>C (p.Cys1991=)
11g.121162129T>GCA383031461TBCEL-TECTA,TECTAc.5031T>G (p.Cys1677Trp)
c.5016T>G (p.Cys1672Trp)
c.2323T>G
n.952T>G
c.5973T>G (p.Cys1991Trp)
11g.121162130G>ACA383031463TBCEL-TECTA,TECTAc.5032G>A (p.Asp1678Asn)
c.5017G>A (p.Asp1673Asn)
c.2324G>A
n.953G>A
c.5974G>A (p.Asp1992Asn)
11g.121162130G>CCA383031465TBCEL-TECTA,TECTAc.5032G>C (p.Asp1678His)
c.5017G>C (p.Asp1673His)
c.2324G>C
n.953G>C
c.5974G>C (p.Asp1992His)
11g.121162130G>TCA383031467TBCEL-TECTA,TECTAc.5032G>T (p.Asp1678Tyr)
c.5017G>T (p.Asp1673Tyr)
c.2324G>T
n.953G>T
c.5974G>T (p.Asp1992Tyr)
11g.121162131A>CCA383031469TBCEL-TECTA,TECTAc.5033A>C (p.Asp1678Ala)
c.5018A>C (p.Asp1673Ala)
c.2325A>C
n.954A>C
c.5975A>C (p.Asp1992Ala)
11g.121162131A>GCA383031471TBCEL-TECTA,TECTAc.5033A>G (p.Asp1678Gly)
c.5018A>G (p.Asp1673Gly)
c.2325A>G
n.954A>G
c.5975A>G (p.Asp1992Gly)
11g.121162131A>TCA383031472TBCEL-TECTA,TECTAc.5033A>T (p.Asp1678Val)
c.5018A>T (p.Asp1673Val)
c.2325A>T
n.954A>T
c.5975A>T (p.Asp1992Val)
11g.121162132C>ACA383031475TBCEL-TECTA,TECTAc.5034C>A (p.Asp1678Glu)
c.5019C>A (p.Asp1673Glu)
c.2326C>A
n.955C>A
c.5976C>A (p.Asp1992Glu)
11g.121162132C>GCA383031477TBCEL-TECTA,TECTAc.5034C>G (p.Asp1678Glu)
c.5019C>G (p.Asp1673Glu)
c.2326C>G
n.955C>G
c.5976C>G (p.Asp1992Glu)
11g.121162132C>TCA477384139TBCEL-TECTA,TECTAc.5034C>T (p.Asp1678=)
c.5019C>T (p.Asp1673=)
c.2326C>T
n.955C>T
c.5976C>T (p.Asp1992=)
11g.121162133A>CCA383031479TBCEL-TECTA,TECTAc.5035A>C (p.Asn1679His)
c.5020A>C (p.Asn1674His)
c.2327A>C
n.956A>C
c.5977A>C (p.Asn1993His)
 gnomAD v4
11g.121162133A>GCA383031481TBCEL-TECTA,TECTAc.5035A>G (p.Asn1679Asp)
c.5020A>G (p.Asn1674Asp)
c.2327A>G
n.956A>G
c.5977A>G (p.Asn1993Asp)
11g.121162133A>TCA383031483TBCEL-TECTA,TECTAc.5035A>T (p.Asn1679Tyr)
c.5020A>T (p.Asn1674Tyr)
c.2327A>T
n.956A>T
c.5977A>T (p.Asn1993Tyr)
11g.121162134A=CA2004742993TBCEL-TECTA,TECTAc.5036A= (p.Asn1679=)
c.5021A= (p.Asn1674=)
c.2328A=
n.957A=
c.5978A= (p.Asn1993=)
11g.121162134A>CCA383031488TBCEL-TECTA,TECTAc.5036A>C (p.Asn1679Thr)
c.5021A>C (p.Asn1674Thr)
c.2328A>C
n.957A>C
c.5978A>C (p.Asn1993Thr)
11g.121162134A>GCA383031485TBCEL-TECTA,TECTAc.5036A>G (p.Asn1679Ser)
c.5021A>G (p.Asn1674Ser)
c.2328A>G
n.957A>G
c.5978A>G (p.Asn1993Ser)
 gnomAD v4
11g.121162134A>TCA383031487TBCEL-TECTA,TECTAc.5036A>T (p.Asn1679Ile)
c.5021A>T (p.Asn1674Ile)
c.2328A>T
n.957A>T
c.5978A>T (p.Asn1993Ile)
 dbSNP
11g.121162135T>ACA383031491TBCEL-TECTA,TECTAc.5037T>A (p.Asn1679Lys)
c.5022T>A (p.Asn1674Lys)
c.2329T>A
n.958T>A
c.5979T>A (p.Asn1993Lys)
 dbSNP gnomAD v4
11g.121162135T>CCA477384140TBCEL-TECTA,TECTAc.5037T>C (p.Asn1679=)
c.5022T>C (p.Asn1674=)
c.2329T>C
n.958T>C
c.5979T>C (p.Asn1993=)
 dbSNP
11g.121162135T>GCA383031493TBCEL-TECTA,TECTAc.5037T>G (p.Asn1679Lys)
c.5022T>G (p.Asn1674Lys)
c.2329T>G
n.958T>G
c.5979T>G (p.Asn1993Lys)
11g.121162135T=CA2004743003TBCEL-TECTA,TECTAc.5037T= (p.Asn1679=)
c.5022T= (p.Asn1674=)
c.2329T=
n.958T=
c.5979T= (p.Asn1993=)
11g.121162136G>ACA383031496TBCEL-TECTA,TECTAc.5038G>A (p.Val1680Met)
c.5023G>A (p.Val1675Met)
c.2330G>A
n.959G>A
c.5980G>A (p.Val1994Met)
 gnomAD v4
11g.121162136G>CCA383031498TBCEL-TECTA,TECTAc.5038G>C (p.Val1680Leu)
c.5023G>C (p.Val1675Leu)
c.2330G>C
n.959G>C
c.5980G>C (p.Val1994Leu)
11g.121162136G>TCA383031500TBCEL-TECTA,TECTAc.5038G>T (p.Val1680Leu)
c.5023G>T (p.Val1675Leu)
c.2330G>T
n.959G>T
c.5980G>T (p.Val1994Leu)
 COSMIC
11g.121162137T>ACA383031503TBCEL-TECTA,TECTAc.5039T>A (p.Val1680Glu)
c.5024T>A (p.Val1675Glu)
c.2331T>A
n.960T>A
c.5981T>A (p.Val1994Glu)
11g.121162137T>CCA6327644TBCEL-TECTA,TECTAc.5039T>C (p.Val1680Ala)
c.5024T>C (p.Val1675Ala)
c.2331T>C
n.960T>C
c.5981T>C (p.Val1994Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162137T>GCA383031505TBCEL-TECTA,TECTAc.5039T>G (p.Val1680Gly)
c.5024T>G (p.Val1675Gly)
c.2331T>G
n.960T>G
c.5981T>G (p.Val1994Gly)
11g.121162137T=CA2004743011TBCEL-TECTA,TECTAc.5039T= (p.Val1680=)
c.5024T= (p.Val1675=)
c.2331T=
n.960T=
c.5981T= (p.Val1994=)
11g.121162138G>ACA477384141TBCEL-TECTA,TECTAc.5040G>A (p.Val1680=)
c.5025G>A (p.Val1675=)
c.2332G>A
n.961G>A
c.5982G>A (p.Val1994=)
11g.121162138G>CCA477384143TBCEL-TECTA,TECTAc.5040G>C (p.Val1680=)
c.5025G>C (p.Val1675=)
c.2332G>C
n.961G>C
c.5982G>C (p.Val1994=)
11g.121162138G>TCA477384142TBCEL-TECTA,TECTAc.5040G>T (p.Val1680=)
c.5025G>T (p.Val1675=)
c.2332G>T
n.961G>T
c.5982G>T (p.Val1994=)
11g.121162139C>ACA383031507TBCEL-TECTA,TECTAc.5041C>A (p.His1681Asn)
c.5026C>A (p.His1676Asn)
c.2333C>A
n.962C>A
c.5983C>A (p.His1995Asn)
11g.121162139C>GCA383031509TBCEL-TECTA,TECTAc.5041C>G (p.His1681Asp)
c.5026C>G (p.His1676Asp)
c.2333C>G
n.962C>G
c.5983C>G (p.His1995Asp)
11g.121162139C>TCA383031511TBCEL-TECTA,TECTAc.5041C>T (p.His1681Tyr)
c.5026C>T (p.His1676Tyr)
c.2333C>T
n.962C>T
c.5983C>T (p.His1995Tyr)
11g.121162140A>CCA383031517TBCEL-TECTA,TECTAc.5042A>C (p.His1681Pro)
c.5027A>C (p.His1676Pro)
c.2334A>C
n.963A>C
c.5984A>C (p.His1995Pro)
11g.121162140A>GCA383031515TBCEL-TECTA,TECTAc.5042A>G (p.His1681Arg)
c.5027A>G (p.His1676Arg)
c.2334A>G
n.963A>G
c.5984A>G (p.His1995Arg)
 gnomAD v4
11g.121162140A>TCA383031513TBCEL-TECTA,TECTAc.5042A>T (p.His1681Leu)
c.5027A>T (p.His1676Leu)
c.2334A>T
n.963A>T
c.5984A>T (p.His1995Leu)
11g.121162141C>ACA383031519TBCEL-TECTA,TECTAc.5043C>A (p.His1681Gln)
c.5028C>A (p.His1676Gln)
c.2335C>A
n.964C>A
c.5985C>A (p.His1995Gln)
11g.121162141C>GCA383031521TBCEL-TECTA,TECTAc.5043C>G (p.His1681Gln)
c.5028C>G (p.His1676Gln)
c.2335C>G
n.964C>G
c.5985C>G (p.His1995Gln)
11g.121162141C>TCA477384144TBCEL-TECTA,TECTAc.5043C>T (p.His1681=)
c.5028C>T (p.His1676=)
c.2335C>T
n.964C>T
c.5985C>T (p.His1995=)
11g.121162142A>CCA383031523TBCEL-TECTA,TECTAc.5044A>C (p.Ile1682Leu)
c.5029A>C (p.Ile1677Leu)
c.2336A>C
n.965A>C
c.5986A>C (p.Ile1996Leu)
11g.121162142A>GCA383031525TBCEL-TECTA,TECTAc.5044A>G (p.Ile1682Val)
c.5029A>G (p.Ile1677Val)
c.2336A>G
n.965A>G
c.5986A>G (p.Ile1996Val)
11g.121162142A>TCA383031527TBCEL-TECTA,TECTAc.5044A>T (p.Ile1682Phe)
c.5029A>T (p.Ile1677Phe)
c.2336A>T
n.965A>T
c.5986A>T (p.Ile1996Phe)
11g.121162143T>ACA383031528TBCEL-TECTA,TECTAc.5045T>A (p.Ile1682Asn)
c.5030T>A (p.Ile1677Asn)
c.2337T>A
n.966T>A
c.5987T>A (p.Ile1996Asn)
11g.121162143T>CCA383031531TBCEL-TECTA,TECTAc.5045T>C (p.Ile1682Thr)
c.5030T>C (p.Ile1677Thr)
c.2337T>C
n.966T>C
c.5987T>C (p.Ile1996Thr)
11g.121162143T>GCA383031533TBCEL-TECTA,TECTAc.5045T>G (p.Ile1682Ser)
c.5030T>G (p.Ile1677Ser)
c.2337T>G
n.966T>G
c.5987T>G (p.Ile1996Ser)
11g.121162144C>ACA477384145TBCEL-TECTA,TECTAc.5046C>A (p.Ile1682=)
c.5031C>A (p.Ile1677=)
c.2338C>A
n.967C>A
c.5988C>A (p.Ile1996=)
 gnomAD v4
11g.121162144C=CA2004743020TBCEL-TECTA,TECTAc.5046C= (p.Ile1682=)
c.5031C= (p.Ile1677=)
c.2338C=
n.967C=
c.5988C= (p.Ile1996=)
11g.121162144C>GCA383031536TBCEL-TECTA,TECTAc.5046C>G (p.Ile1682Met)
c.5031C>G (p.Ile1677Met)
c.2338C>G
n.967C>G
c.5988C>G (p.Ile1996Met)
 dbSNP
11g.121162144C>TCA6327645TBCEL-TECTA,TECTAc.5046C>T (p.Ile1682=)
c.5031C>T (p.Ile1677=)
c.2338C>T
n.967C>T
c.5988C>T (p.Ile1996=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162145C>ACA383031539TBCEL-TECTA,TECTAc.5047C>A (p.Gln1683Lys)
c.5032C>A (p.Gln1678Lys)
c.2339C>A
n.968C>A
c.5989C>A (p.Gln1997Lys)
 dbSNP
11g.121162145C=CA2004743029TBCEL-TECTA,TECTAc.5047C= (p.Gln1683=)
c.5032C= (p.Gln1678=)
c.2339C=
n.968C=
c.5989C= (p.Gln1997=)
11g.121162145C>GCA383031541TBCEL-TECTA,TECTAc.5047C>G (p.Gln1683Glu)
c.5032C>G (p.Gln1678Glu)
c.2339C>G
n.968C>G
c.5989C>G (p.Gln1997Glu)
11g.121162145C>TCA383031542TBCEL-TECTA,TECTAc.5047C>T (p.Gln1683Ter)
c.5032C>T (p.Gln1678Ter)
c.2339C>T
n.968C>T
c.5989C>T (p.Gln1997Ter)
11g.121162146A>CCA383031545TBCEL-TECTA,TECTAc.5048A>C (p.Gln1683Pro)
c.5033A>C (p.Gln1678Pro)
c.2340A>C
n.969A>C
c.5990A>C (p.Gln1997Pro)
11g.121162146A>GCA383031543TBCEL-TECTA,TECTAc.5048A>G (p.Gln1683Arg)
c.5033A>G (p.Gln1678Arg)
c.2340A>G
n.969A>G
c.5990A>G (p.Gln1997Arg)
 gnomAD v4
11g.121162146A>TCA383031544TBCEL-TECTA,TECTAc.5048A>T (p.Gln1683Leu)
c.5033A>T (p.Gln1678Leu)
c.2340A>T
n.969A>T
c.5990A>T (p.Gln1997Leu)
11g.121162147G>ACA477384146TBCEL-TECTA,TECTAc.5049G>A (p.Gln1683=)
c.5034G>A (p.Gln1678=)
c.2341G>A
n.970G>A
c.5991G>A (p.Gln1997=)
 dbSNP gnomAD v2 gnomAD v4
11g.121162147G>CCA383031546TBCEL-TECTA,TECTAc.5049G>C (p.Gln1683His)
c.5034G>C (p.Gln1678His)
c.2341G>C
n.970G>C
c.5991G>C (p.Gln1997His)
11g.121162147G=CA2004743036TBCEL-TECTA,TECTAc.5049G= (p.Gln1683=)
c.5034G= (p.Gln1678=)
c.2341G=
n.970G=
c.5991G= (p.Gln1997=)
11g.121162147G>TCA229847646TBCEL-TECTA,TECTAc.5049G>T (p.Gln1683His)
c.5034G>T (p.Gln1678His)
c.2341G>T
n.970G>T
c.5991G>T (p.Gln1997His)
 dbSNP gnomAD v4
11g.121162148A=CA2004743039TBCEL-TECTA,TECTAc.5050A= (p.Lys1684=)
c.5035A= (p.Lys1679=)
c.2342A=
n.971A=
c.5992A= (p.Lys1998=)
11g.121162148A>CCA383031547TBCEL-TECTA,TECTAc.5050A>C (p.Lys1684Gln)
c.5035A>C (p.Lys1679Gln)
c.2342A>C
n.971A>C
c.5992A>C (p.Lys1998Gln)
11g.121162148A>GCA383031548TBCEL-TECTA,TECTAc.5050A>G (p.Lys1684Glu)
c.5035A>G (p.Lys1679Glu)
c.2342A>G
n.971A>G
c.5992A>G (p.Lys1998Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.121162148A>TCA383031549TBCEL-TECTA,TECTAc.5050A>T (p.Lys1684Ter)
c.5035A>T (p.Lys1679Ter)
c.2342A>T
n.971A>T
c.5992A>T (p.Lys1998Ter)
11g.121162149A>CCA383031550TBCEL-TECTA,TECTAc.5051A>C (p.Lys1684Thr)
c.5036A>C (p.Lys1679Thr)
c.2343A>C
n.972A>C
c.5993A>C (p.Lys1998Thr)
11g.121162149A>GCA383031551TBCEL-TECTA,TECTAc.5051A>G (p.Lys1684Arg)
c.5036A>G (p.Lys1679Arg)
c.2343A>G
n.972A>G
c.5993A>G (p.Lys1998Arg)
11g.121162149A>TCA383031552TBCEL-TECTA,TECTAc.5051A>T (p.Lys1684Met)
c.5036A>T (p.Lys1679Met)
c.2343A>T
n.972A>T
c.5993A>T (p.Lys1998Met)
11g.121162150G>ACA477384147TBCEL-TECTA,TECTAc.5052G>A (p.Lys1684=)
c.5037G>A (p.Lys1679=)
c.2344G>A
n.973G>A
c.5994G>A (p.Lys1998=)
11g.121162150G>CCA383031553TBCEL-TECTA,TECTAc.5052G>C (p.Lys1684Asn)
c.5037G>C (p.Lys1679Asn)
c.2344G>C
n.973G>C
c.5994G>C (p.Lys1998Asn)
11g.121162150G>TCA383031554TBCEL-TECTA,TECTAc.5052G>T (p.Lys1684Asn)
c.5037G>T (p.Lys1679Asn)
c.2344G>T
n.973G>T
c.5994G>T (p.Lys1998Asn)
11g.121162151A>CCA383031555TBCEL-TECTA,TECTAc.5053A>C (p.Met1685Leu)
c.5038A>C (p.Met1680Leu)
c.2345A>C
n.974A>C
c.5995A>C (p.Met1999Leu)
11g.121162151A>GCA383031556TBCEL-TECTA,TECTAc.5053A>G (p.Met1685Val)
c.5038A>G (p.Met1680Val)
c.2345A>G
n.974A>G
c.5995A>G (p.Met1999Val)
11g.121162151A>TCA383031557TBCEL-TECTA,TECTAc.5053A>T (p.Met1685Leu)
c.5038A>T (p.Met1680Leu)
c.2345A>T
n.974A>T
c.5995A>T (p.Met1999Leu)
11g.121162152T>ACA383031558TBCEL-TECTA,TECTAc.5054T>A (p.Met1685Lys)
c.5039T>A (p.Met1680Lys)
c.2346T>A
n.975T>A
c.5996T>A (p.Met1999Lys)
11g.121162152T>CCA383031559TBCEL-TECTA,TECTAc.5054T>C (p.Met1685Thr)
c.5039T>C (p.Met1680Thr)
c.2346T>C
n.975T>C
c.5996T>C (p.Met1999Thr)
11g.121162152T>GCA6327646TBCEL-TECTA,TECTAc.5054T>G (p.Met1685Arg)
c.5039T>G (p.Met1680Arg)
c.2346T>G
n.975T>G
c.5996T>G (p.Met1999Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121162152T=CA2004743041TBCEL-TECTA,TECTAc.5054T= (p.Met1685=)
c.5039T= (p.Met1680=)
c.2346T=
n.975T=
c.5996T= (p.Met1999=)
11g.121162153G>ACA383031560TBCEL-TECTA,TECTAc.5055G>A (p.Met1685Ile)
c.5040G>A (p.Met1680Ile)
c.2347G>A
n.976G>A
c.5997G>A (p.Met1999Ile)
11g.121162153G>CCA383031562TBCEL-TECTA,TECTAc.5055G>C (p.Met1685Ile)
c.5040G>C (p.Met1680Ile)
c.2347G>C
n.976G>C
c.5997G>C (p.Met1999Ile)
11g.121162153G>TCA383031561TBCEL-TECTA,TECTAc.5055G>T (p.Met1685Ile)
c.5040G>T (p.Met1680Ile)
c.2347G>T
n.976G>T
c.5997G>T (p.Met1999Ile)
 gnomAD v4
11g.121162154C>ACA383031563TBCEL-TECTA,TECTAc.5056C>A (p.Gln1686Lys)
c.5041C>A (p.Gln1681Lys)
c.2348C>A
n.977C>A
c.5998C>A (p.Gln2000Lys)
11g.121162154C>GCA383031565TBCEL-TECTA,TECTAc.5056C>G (p.Gln1686Glu)
c.5041C>G (p.Gln1681Glu)
c.2348C>G
n.977C>G
c.5998C>G (p.Gln2000Glu)
 gnomAD v4
11g.121162154C>TCA383031564TBCEL-TECTA,TECTAc.5056C>T (p.Gln1686Ter)
c.5041C>T (p.Gln1681Ter)
c.2348C>T
n.977C>T
c.5998C>T (p.Gln2000Ter)
 gnomAD v4
11g.121162155A>CCA383031566TBCEL-TECTA,TECTAc.5057A>C (p.Gln1686Pro)
c.5042A>C (p.Gln1681Pro)
c.2349A>C
n.978A>C
c.5999A>C (p.Gln2000Pro)
11g.121162155A>GCA383031567TBCEL-TECTA,TECTAc.5057A>G (p.Gln1686Arg)
c.5042A>G (p.Gln1681Arg)
c.2349A>G
n.978A>G
c.5999A>G (p.Gln2000Arg)
11g.121162155A>TCA383031568TBCEL-TECTA,TECTAc.5057A>T (p.Gln1686Leu)
c.5042A>T (p.Gln1681Leu)
c.2349A>T
n.978A>T
c.5999A>T (p.Gln2000Leu)
11g.121162156G>ACA477384148TBCEL-TECTA,TECTAc.5058G>A (p.Gln1686=)
c.5043G>A (p.Gln1681=)
c.2350G>A
n.979G>A
c.6000G>A (p.Gln2000=)
11g.121162156G>CCA383031569TBCEL-TECTA,TECTAc.5058G>C (p.Gln1686His)
c.5043G>C (p.Gln1681His)
c.2350G>C
n.979G>C
c.6000G>C (p.Gln2000His)
11g.121162156G>TCA383031570TBCEL-TECTA,TECTAc.5058G>T (p.Gln1686His)
c.5043G>T (p.Gln1681His)
c.2350G>T
n.979G>T
c.6000G>T (p.Gln2000His)
11g.121162157G>ACA383031571TBCEL-TECTA,TECTAc.5059G>A (p.Gly1687Ser)
c.5044G>A (p.Gly1682Ser)
c.2351G>A
n.980G>A
c.6001G>A (p.Gly2001Ser)
 gnomAD v4
11g.121162157G>CCA383031572TBCEL-TECTA,TECTAc.5059G>C (p.Gly1687Arg)
c.5044G>C (p.Gly1682Arg)
c.2351G>C
n.980G>C
c.6001G>C (p.Gly2001Arg)
11g.121162157G>TCA383031573TBCEL-TECTA,TECTAc.5059G>T (p.Gly1687Cys)
c.5044G>T (p.Gly1682Cys)
c.2351G>T
n.980G>T
c.6001G>T (p.Gly2001Cys)
 COSMIC
11g.121162158G>ACA383031574TBCEL-TECTA,TECTAc.5060G>A (p.Gly1687Asp)
c.5045G>A (p.Gly1682Asp)
c.2352G>A
n.981G>A
c.6002G>A (p.Gly2001Asp)
 gnomAD v4
11g.121162158G>CCA383031575TBCEL-TECTA,TECTAc.5060G>C (p.Gly1687Ala)
c.5045G>C (p.Gly1682Ala)
c.2352G>C
n.981G>C
c.6002G>C (p.Gly2001Ala)
11g.121162158G>TCA383031576TBCEL-TECTA,TECTAc.5060G>T (p.Gly1687Val)
c.5045G>T (p.Gly1682Val)
c.2352G>T
n.981G>T
c.6002G>T (p.Gly2001Val)
11g.121162159T>ACA477384150TBCEL-TECTA,TECTAc.5061T>A (p.Gly1687=)
c.5046T>A (p.Gly1682=)
c.2353T>A
n.982T>A
c.6003T>A (p.Gly2001=)
11g.121162159T>CCA477384151TBCEL-TECTA,TECTAc.5061T>C (p.Gly1687=)
c.5046T>C (p.Gly1682=)
c.2353T>C
n.982T>C
c.6003T>C (p.Gly2001=)
11g.121162159T>GCA477384152TBCEL-TECTA,TECTAc.5061T>G (p.Gly1687=)
c.5046T>G (p.Gly1682=)
c.2353T>G
n.982T>G
c.6003T>G (p.Gly2001=)
11g.121162160G>ACA383031584TBCEL-TECTA,TECTAc.5062G>A (p.Asp1688Asn)
c.5047G>A (p.Asp1683Asn)
c.2354G>A
n.983G>A
c.6004G>A (p.Asp2002Asn)
11g.121162160G>CCA383031578TBCEL-TECTA,TECTAc.5062G>C (p.Asp1688His)
c.5047G>C (p.Asp1683His)
c.2354G>C
n.983G>C
c.6004G>C (p.Asp2002His)
11g.121162160G>TCA383031577TBCEL-TECTA,TECTAc.5062G>T (p.Asp1688Tyr)
c.5047G>T (p.Asp1683Tyr)
c.2354G>T
n.983G>T
c.6004G>T (p.Asp2002Tyr)
11g.121162161A>CCA383031587TBCEL-TECTA,TECTAc.5063A>C (p.Asp1688Ala)
c.5048A>C (p.Asp1683Ala)
c.2355A>C
n.984A>C
c.6005A>C (p.Asp2002Ala)
11g.121162161A>GCA383031589TBCEL-TECTA,TECTAc.5063A>G (p.Asp1688Gly)
c.5048A>G (p.Asp1683Gly)
c.2355A>G
n.984A>G
c.6005A>G (p.Asp2002Gly)
11g.121162161A>TCA383031591TBCEL-TECTA,TECTAc.5063A>T (p.Asp1688Val)
c.5048A>T (p.Asp1683Val)
c.2355A>T
n.984A>T
c.6005A>T (p.Asp2002Val)
11g.121162162T>ACA383031593TBCEL-TECTA,TECTAc.5064T>A (p.Asp1688Glu)
c.5049T>A (p.Asp1683Glu)
c.2356T>A
n.985T>A
c.6006T>A (p.Asp2002Glu)
11g.121162162T>CCA477384153TBCEL-TECTA,TECTAc.5064T>C (p.Asp1688=)
c.5049T>C (p.Asp1683=)
c.2356T>C
n.985T>C
c.6006T>C (p.Asp2002=)
 gnomAD v4
11g.121162162T>GCA383031595TBCEL-TECTA,TECTAc.5064T>G (p.Asp1688Glu)
c.5049T>G (p.Asp1683Glu)
c.2356T>G
n.985T>G
c.6006T>G (p.Asp2002Glu)
 gnomAD v4
11g.121162163G>ACA383031597TBCEL-TECTA,TECTAc.5065G>A (p.Gly1689Ser)
c.5050G>A (p.Gly1684Ser)
c.2357G>A
n.986G>A
c.6007G>A (p.Gly2003Ser)
 dbSNP gnomAD v4
11g.121162163G>CCA383031598TBCEL-TECTA,TECTAc.5065G>C (p.Gly1689Arg)
c.5050G>C (p.Gly1684Arg)
c.2357G>C
n.986G>C
c.6007G>C (p.Gly2003Arg)
11g.121162163G=CA2004743044TBCEL-TECTA,TECTAc.5065G= (p.Gly1689=)
c.5050G= (p.Gly1684=)
c.2357G=
n.986G=
c.6007G= (p.Gly2003=)
11g.121162163G>TCA383031600TBCEL-TECTA,TECTAc.5065G>T (p.Gly1689Cys)
c.5050G>T (p.Gly1684Cys)
c.2357G>T
n.986G>T
c.6007G>T (p.Gly2003Cys)
11g.121162164G>ACA383031602TBCEL-TECTA,TECTAc.5066G>A (p.Gly1689Asp)
c.5051G>A (p.Gly1684Asp)
c.2358G>A
n.987G>A
c.6008G>A (p.Gly2003Asp)
11g.121162164G>CCA383031604TBCEL-TECTA,TECTAc.5066G>C (p.Gly1689Ala)
c.5051G>C (p.Gly1684Ala)
c.2358G>C
n.987G>C
c.6008G>C (p.Gly2003Ala)
11g.121162164G>TCA383031606TBCEL-TECTA,TECTAc.5066G>T (p.Gly1689Val)
c.5051G>T (p.Gly1684Val)
c.2358G>T
n.987G>T
c.6008G>T (p.Gly2003Val)
11g.121162165C>ACA477384154TBCEL-TECTA,TECTAc.5067C>A (p.Gly1689=)
c.5052C>A (p.Gly1684=)
c.2359C>A
n.988C>A
c.6009C>A (p.Gly2003=)
 COSMIC
11g.121162165C=CA2004743048TBCEL-TECTA,TECTAc.5067C= (p.Gly1689=)
c.5052C= (p.Gly1684=)
c.2359C=
n.988C=
c.6009C= (p.Gly2003=)
11g.121162165C>GCA477384155TBCEL-TECTA,TECTAc.5067C>G (p.Gly1689=)
c.5052C>G (p.Gly1684=)
c.2359C>G
n.988C>G
c.6009C>G (p.Gly2003=)
11g.121162165C>TCA477384156TBCEL-TECTA,TECTAc.5067C>T (p.Gly1689=)
c.5052C>T (p.Gly1684=)
c.2359C>T
n.988C>T
c.6009C>T (p.Gly2003=)
11g.121162166T>ACA383031611TBCEL-TECTA,TECTAc.5068T>A (p.Tyr1690Asn)
c.5053T>A (p.Tyr1685Asn)
c.2360T>A
n.989T>A
c.6010T>A (p.Tyr2004Asn)
 gnomAD v4
11g.121162166T>CCA383031610TBCEL-TECTA,TECTAc.5068T>C (p.Tyr1690His)
c.5053T>C (p.Tyr1685His)
c.2360T>C
n.989T>C
c.6010T>C (p.Tyr2004His)
11g.121162166T>GCA383031608TBCEL-TECTA,TECTAc.5068T>G (p.Tyr1690Asp)
c.5053T>G (p.Tyr1685Asp)
c.2360T>G
n.989T>G
c.6010T>G (p.Tyr2004Asp)
11g.121162166dupCA672604775TBCEL-TECTA,TECTAc.5068dup (p.Tyr1690LeufsTer?)
c.5053dup (p.Tyr1685LeufsTer?)
c.2360dup
n.989dup
c.6010dup (p.Tyr2004LeufsTer?)
 dbSNP gnomAD v3 gnomAD v4
11g.121162167A>CCA383031613TBCEL-TECTA,TECTAc.5069A>C (p.Tyr1690Ser)
c.5054A>C (p.Tyr1685Ser)
c.2361A>C
n.990A>C
c.6011A>C (p.Tyr2004Ser)
 gnomAD v4
11g.121162167A>GCA383031615TBCEL-TECTA,TECTAc.5069A>G (p.Tyr1690Cys)
c.5054A>G (p.Tyr1685Cys)
c.2361A>G
n.990A>G
c.6011A>G (p.Tyr2004Cys)
11g.121162167A>TCA383031617TBCEL-TECTA,TECTAc.5069A>T (p.Tyr1690Phe)
c.5054A>T (p.Tyr1685Phe)
c.2361A>T
n.990A>T
c.6011A>T (p.Tyr2004Phe)
11g.121162168C>ACA383031620TBCEL-TECTA,TECTAc.5070C>A (p.Tyr1690Ter)
c.5055C>A (p.Tyr1685Ter)
c.2362C>A
n.991C>A
c.6012C>A (p.Tyr2004Ter)
11g.121162168C=CA2004743058TBCEL-TECTA,TECTAc.5070C= (p.Tyr1690=)
c.5055C= (p.Tyr1685=)
c.2362C=
n.991C=
c.6012C= (p.Tyr2004=)
11g.121162168C>GCA383031622TBCEL-TECTA,TECTAc.5070C>G (p.Tyr1690Ter)
c.5055C>G (p.Tyr1685Ter)
c.2362C>G
n.991C>G
c.6012C>G (p.Tyr2004Ter)
11g.121162168C>TCA477384160TBCEL-TECTA,TECTAc.5070C>T (p.Tyr1690=)
c.5055C>T (p.Tyr1685=)
c.2362C>T
n.991C>T
c.6012C>T (p.Tyr2004=)
 dbSNP
11g.121162169T>ACA383031624TBCEL-TECTA,TECTAc.5071T>A (p.Cys1691Ser)
c.5056T>A (p.Cys1686Ser)
c.2363T>A
n.992T>A
c.6013T>A (p.Cys2005Ser)
11g.121162169T>CCA383031626TBCEL-TECTA,TECTAc.5071T>C (p.Cys1691Arg)
c.5056T>C (p.Cys1686Arg)
c.2363T>C
n.992T>C
c.6013T>C (p.Cys2005Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121162169T>GCA383031629TBCEL-TECTA,TECTAc.5071T>G (p.Cys1691Gly)
c.5056T>G (p.Cys1686Gly)
c.2363T>G
n.992T>G
c.6013T>G (p.Cys2005Gly)
 gnomAD v4
11g.121162169T=CA2004743069TBCEL-TECTA,TECTAc.5071T= (p.Cys1691=)
c.5056T= (p.Cys1686=)
c.2363T=
n.992T=
c.6013T= (p.Cys2005=)
11g.121162170G>ACA383031631TBCEL-TECTA,TECTAc.5072G>A (p.Cys1691Tyr)
c.5057G>A (p.Cys1686Tyr)
c.2364G>A
n.993G>A
c.6014G>A (p.Cys2005Tyr)
11g.121162170G>CCA383031633TBCEL-TECTA,TECTAc.5072G>C (p.Cys1691Ser)
c.5057G>C (p.Cys1686Ser)
c.2364G>C
n.993G>C
c.6014G>C (p.Cys2005Ser)
11g.121162170G>TCA383031635TBCEL-TECTA,TECTAc.5072G>T (p.Cys1691Phe)
c.5057G>T (p.Cys1686Phe)
c.2364G>T
n.993G>T
c.6014G>T (p.Cys2005Phe)
11g.121162171C>ACA383031638TBCEL-TECTA,TECTAc.5073C>A (p.Cys1691Ter)
c.5058C>A (p.Cys1686Ter)
c.2365C>A
n.994C>A
c.6015C>A (p.Cys2005Ter)
11g.121162171C=CA2004743074TBCEL-TECTA,TECTAc.5073C= (p.Cys1691=)
c.5058C= (p.Cys1686=)
c.2365C=
n.994C=
c.6015C= (p.Cys2005=)
11g.121162171C>GCA6327647TBCEL-TECTA,TECTAc.5073C>G (p.Cys1691Trp)
c.5058C>G (p.Cys1686Trp)
c.2365C>G
n.994C>G
c.6015C>G (p.Cys2005Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121162171C>TCA477384168TBCEL-TECTA,TECTAc.5073C>T (p.Cys1691=)
c.5058C>T (p.Cys1686=)
c.2365C>T
n.994C>T
c.6015C>T (p.Cys2005=)
11g.121162172C>ACA383031644TBCEL-TECTA,TECTAc.5074C>A (p.Leu1692Met)
c.5059C>A (p.Leu1687Met)
c.2366C>A
n.995C>A
c.6016C>A (p.Leu2006Met)
 ClinVar dbSNP gnomAD v4
11g.121162172C=CA2004743086TBCEL-TECTA,TECTAc.5074C= (p.Leu1692=)
c.5059C= (p.Leu1687=)
c.2366C=
n.995C=
c.6016C= (p.Leu2006=)
11g.121162172C>GCA383031642TBCEL-TECTA,TECTAc.5074C>G (p.Leu1692Val)
c.5059C>G (p.Leu1687Val)
c.2366C>G
n.995C>G
c.6016C>G (p.Leu2006Val)
 gnomAD v4
11g.121162172C>TCA477384170TBCEL-TECTA,TECTAc.5074C>T (p.Leu1692=)
c.5059C>T (p.Leu1687=)
c.2366C>T
n.995C>T
c.6016C>T (p.Leu2006=)
11g.121162173T>ACA383031647TBCEL-TECTA,TECTAc.5075T>A (p.Leu1692Gln)
c.5060T>A (p.Leu1687Gln)
c.2367T>A
n.996T>A
c.6017T>A (p.Leu2006Gln)
11g.121162173T>CCA383031648TBCEL-TECTA,TECTAc.5075T>C (p.Leu1692Pro)
c.5060T>C (p.Leu1687Pro)
c.2367T>C
n.996T>C
c.6017T>C (p.Leu2006Pro)
11g.121162173T>GCA383031650TBCEL-TECTA,TECTAc.5075T>G (p.Leu1692Arg)
c.5060T>G (p.Leu1687Arg)
c.2367T>G
n.996T>G
c.6017T>G (p.Leu2006Arg)
11g.121162174G>ACA477384176TBCEL-TECTA,TECTAc.5076G>A (p.Leu1692=)
c.5061G>A (p.Leu1687=)
c.2368G>A
n.997G>A
c.6018G>A (p.Leu2006=)
11g.121162174G>CCA477384178TBCEL-TECTA,TECTAc.5076G>C (p.Leu1692=)
c.5061G>C (p.Leu1687=)
c.2368G>C
n.997G>C
c.6018G>C (p.Leu2006=)
11g.121162174G>TCA477384174TBCEL-TECTA,TECTAc.5076G>T (p.Leu1692=)
c.5061G>T (p.Leu1687=)
c.2368G>T
n.997G>T
c.6018G>T (p.Leu2006=)
11g.121162175A>CCA383031653TBCEL-TECTA,TECTAc.5077A>C (p.Lys1693Gln)
c.5062A>C (p.Lys1688Gln)
c.2369A>C
n.998A>C
c.6019A>C (p.Lys2007Gln)
11g.121162175A>GCA383031654TBCEL-TECTA,TECTAc.5077A>G (p.Lys1693Glu)
c.5062A>G (p.Lys1688Glu)
c.2369A>G
n.998A>G
c.6019A>G (p.Lys2007Glu)
11g.121162175A>TCA383031656TBCEL-TECTA,TECTAc.5077A>T (p.Lys1693Ter)
c.5062A>T (p.Lys1688Ter)
c.2369A>T
n.998A>T
c.6019A>T (p.Lys2007Ter)
11g.121162176A>CCA383031659TBCEL-TECTA,TECTAc.5078A>C (p.Lys1693Thr)
c.5063A>C (p.Lys1688Thr)
c.2370A>C
n.999A>C
c.6020A>C (p.Lys2007Thr)
11g.121162176A>GCA383031661TBCEL-TECTA,TECTAc.5078A>G (p.Lys1693Arg)
c.5063A>G (p.Lys1688Arg)
c.2370A>G
n.999A>G
c.6020A>G (p.Lys2007Arg)
11g.121162176A>TCA383031663TBCEL-TECTA,TECTAc.5078A>T (p.Lys1693Met)
c.5063A>T (p.Lys1688Met)
c.2370A>T
n.999A>T
c.6020A>T (p.Lys2007Met)
11g.121162177G>ACA6327648TBCEL-TECTA,TECTAc.5079G>A (p.Lys1693=)
c.5064G>A (p.Lys1688=)
c.2371G>A
n.1000G>A
c.6021G>A (p.Lys2007=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121162177G>CCA383031667TBCEL-TECTA,TECTAc.5079G>C (p.Lys1693Asn)
c.5064G>C (p.Lys1688Asn)
c.2371G>C
n.1000G>C
c.6021G>C (p.Lys2007Asn)
11g.121162177G=CA2004743096TBCEL-TECTA,TECTAc.5079G= (p.Lys1693=)
c.5064G= (p.Lys1688=)
c.2371G=
n.1000G=
c.6021G= (p.Lys2007=)
11g.121162177G>TCA383031669TBCEL-TECTA,TECTAc.5079G>T (p.Lys1693Asn)
c.5064G>T (p.Lys1688Asn)
c.2371G>T
n.1000G>T
c.6021G>T (p.Lys2007Asn)
11g.121162178C>ACA383031676TBCEL-TECTA,TECTAc.5080C>A (p.Leu1694Ile)
c.5065C>A (p.Leu1689Ile)
c.2372C>A
n.1001C>A
c.6022C>A (p.Leu2008Ile)
11g.121162178C>GCA383031674TBCEL-TECTA,TECTAc.5080C>G (p.Leu1694Val)
c.5065C>G (p.Leu1689Val)
c.2372C>G
n.1001C>G
c.6022C>G (p.Leu2008Val)
11g.121162178C>TCA383031673TBCEL-TECTA,TECTAc.5080C>T (p.Leu1694Phe)
c.5065C>T (p.Leu1689Phe)
c.2372C>T
n.1001C>T
c.6022C>T (p.Leu2008Phe)
11g.121162179T>ACA383031680TBCEL-TECTA,TECTAc.5081T>A (p.Leu1694His)
c.5066T>A (p.Leu1689His)
c.2373T>A
n.1002T>A
c.6023T>A (p.Leu2008His)
11g.121162179T>CCA383031682TBCEL-TECTA,TECTAc.5081T>C (p.Leu1694Pro)
c.5066T>C (p.Leu1689Pro)
c.2373T>C
n.1002T>C
c.6023T>C (p.Leu2008Pro)
11g.121162179T>GCA383031683TBCEL-TECTA,TECTAc.5081T>G (p.Leu1694Arg)
c.5066T>G (p.Leu1689Arg)
c.2373T>G
n.1002T>G
c.6023T>G (p.Leu2008Arg)
11g.121162180C>ACA477384188TBCEL-TECTA,TECTAc.5082C>A (p.Leu1694=)
c.5067C>A (p.Leu1689=)
c.2374C>A
n.1003C>A
c.6024C>A (p.Leu2008=)
11g.121162180C=CA2004743099TBCEL-TECTA,TECTAc.5082C= (p.Leu1694=)
c.5067C= (p.Leu1689=)
c.2374C=
n.1003C=
c.6024C= (p.Leu2008=)
11g.121162180C>GCA477384191TBCEL-TECTA,TECTAc.5082C>G (p.Leu1694=)
c.5067C>G (p.Leu1689=)
c.2374C>G
n.1003C>G
c.6024C>G (p.Leu2008=)
11g.121162180C>TCA477384189TBCEL-TECTA,TECTAc.5082C>T (p.Leu1694=)
c.5067C>T (p.Leu1689=)
c.2374C>T
n.1003C>T
c.6024C>T (p.Leu2008=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121162181A>CCA383031687TBCEL-TECTA,TECTAc.5083A>C (p.Thr1695Pro)
c.5068A>C (p.Thr1690Pro)
c.2375A>C
n.1004A>C
c.6025A>C (p.Thr2009Pro)
11g.121162181A>GCA383031688TBCEL-TECTA,TECTAc.5083A>G (p.Thr1695Ala)
c.5068A>G (p.Thr1690Ala)
c.2375A>G
n.1004A>G
c.6025A>G (p.Thr2009Ala)
11g.121162181A>TCA383031690TBCEL-TECTA,TECTAc.5083A>T (p.Thr1695Ser)
c.5068A>T (p.Thr1690Ser)
c.2375A>T
n.1004A>T
c.6025A>T (p.Thr2009Ser)
11g.121162182C>ACA383031693TBCEL-TECTA,TECTAc.5084C>A (p.Thr1695Asn)
c.5069C>A (p.Thr1690Asn)
c.2376C>A
n.1005C>A
c.6026C>A (p.Thr2009Asn)
11g.121162182C>GCA383031694TBCEL-TECTA,TECTAc.5084C>G (p.Thr1695Ser)
c.5069C>G (p.Thr1690Ser)
c.2376C>G
n.1005C>G
c.6026C>G (p.Thr2009Ser)
11g.121162182C>TCA383031696TBCEL-TECTA,TECTAc.5084C>T (p.Thr1695Ile)
c.5069C>T (p.Thr1690Ile)
c.2376C>T
n.1005C>T
c.6026C>T (p.Thr2009Ile)
11g.121162183C>ACA477384197TBCEL-TECTA,TECTAc.5085C>A (p.Thr1695=)
c.5070C>A (p.Thr1690=)
c.2377C>A
n.1006C>A
c.6027C>A (p.Thr2009=)
 dbSNP gnomAD v2 gnomAD v4
11g.121162183C=CA2004743104TBCEL-TECTA,TECTAc.5085C= (p.Thr1695=)
c.5070C= (p.Thr1690=)
c.2377C=
n.1006C=
c.6027C= (p.Thr2009=)
11g.121162183C>GCA477384198TBCEL-TECTA,TECTAc.5085C>G (p.Thr1695=)
c.5070C>G (p.Thr1690=)
c.2377C>G
n.1006C>G
c.6027C>G (p.Thr2009=)
 gnomAD v4
11g.121162183C>TCA6327649TBCEL-TECTA,TECTAc.5085C>T (p.Thr1695=)
c.5070C>T (p.Thr1690=)
c.2377C>T
n.1006C>T
c.6027C>T (p.Thr2009=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121162184G>ACA229847661TBCEL-TECTA,TECTAc.5086G>A (p.Asp1696Asn)
c.5071G>A (p.Asp1691Asn)
c.2378G>A
n.1007G>A
c.6028G>A (p.Asp2010Asn)
 ClinVar dbSNP gnomAD v4
11g.121162184G>CCA383031700TBCEL-TECTA,TECTAc.5086G>C (p.Asp1696His)
c.5071G>C (p.Asp1691His)
c.2378G>C
n.1007G>C
c.6028G>C (p.Asp2010His)
 gnomAD v4
11g.121162184G=CA2004743115TBCEL-TECTA,TECTAc.5086G= (p.Asp1696=)
c.5071G= (p.Asp1691=)
c.2378G=
n.1007G=
c.6028G= (p.Asp2010=)
11g.121162184G>TCA383031702TBCEL-TECTA,TECTAc.5086G>T (p.Asp1696Tyr)
c.5071G>T (p.Asp1691Tyr)
c.2378G>T
n.1007G>T
c.6028G>T (p.Asp2010Tyr)
11g.121162185A>CCA383031709TBCEL-TECTA,TECTAc.5087A>C (p.Asp1696Ala)
c.5072A>C (p.Asp1691Ala)
c.2379A>C
n.1008A>C
c.6029A>C (p.Asp2010Ala)
11g.121162185A>GCA383031707TBCEL-TECTA,TECTAc.5087A>G (p.Asp1696Gly)
c.5072A>G (p.Asp1691Gly)
c.2379A>G
n.1008A>G
c.6029A>G (p.Asp2010Gly)
11g.121162185A>TCA383031705TBCEL-TECTA,TECTAc.5087A>T (p.Asp1696Val)
c.5072A>T (p.Asp1691Val)
c.2379A>T
n.1008A>T
c.6029A>T (p.Asp2010Val)
11g.121162186C>ACA383031711TBCEL-TECTA,TECTAc.5088C>A (p.Asp1696Glu)
c.5073C>A (p.Asp1691Glu)
c.2380C>A
n.1009C>A
c.6030C>A (p.Asp2010Glu)
11g.121162186C>GCA383031713TBCEL-TECTA,TECTAc.5088C>G (p.Asp1696Glu)
c.5073C>G (p.Asp1691Glu)
c.2380C>G
n.1009C>G
c.6030C>G (p.Asp2010Glu)
11g.121162186C>TCA477384211TBCEL-TECTA,TECTAc.5088C>T (p.Asp1696=)
c.5073C>T (p.Asp1691=)
c.2380C>T
n.1009C>T
c.6030C>T (p.Asp2010=)
 gnomAD v4
11g.121162187A>CCA383031715TBCEL-TECTA,TECTAc.5089A>C (p.Met1697Leu)
c.5074A>C (p.Met1692Leu)
c.2381A>C
n.1010A>C
c.6031A>C (p.Met2011Leu)
11g.121162187A>GCA383031717TBCEL-TECTA,TECTAc.5089A>G (p.Met1697Val)
c.5074A>G (p.Met1692Val)
c.2381A>G
n.1010A>G
c.6031A>G (p.Met2011Val)
 gnomAD v4
11g.121162187A>TCA383031719TBCEL-TECTA,TECTAc.5089A>T (p.Met1697Leu)
c.5074A>T (p.Met1692Leu)
c.2381A>T
n.1010A>T
c.6031A>T (p.Met2011Leu)
11g.121162188T>ACA383031721TBCEL-TECTA,TECTAc.5090T>A (p.Met1697Lys)
c.5075T>A (p.Met1692Lys)
c.2382T>A
n.1011T>A
c.6032T>A (p.Met2011Lys)
11g.121162188T>CCA383031722TBCEL-TECTA,TECTAc.5090T>C (p.Met1697Thr)
c.5075T>C (p.Met1692Thr)
c.2382T>C
n.1011T>C
c.6032T>C (p.Met2011Thr)
11g.121162188T>GCA383031723TBCEL-TECTA,TECTAc.5090T>G (p.Met1697Arg)
c.5075T>G (p.Met1692Arg)
c.2382T>G
n.1011T>G
c.6032T>G (p.Met2011Arg)
11g.121162189G>ACA6327650TBCEL-TECTA,TECTAc.5091G>A (p.Met1697Ile)
c.5076G>A (p.Met1692Ile)
c.2383G>A
n.1012G>A
c.6033G>A (p.Met2011Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121162189G>CCA383031725TBCEL-TECTA,TECTAc.5091G>C (p.Met1697Ile)
c.5076G>C (p.Met1692Ile)
c.2383G>C
n.1012G>C
c.6033G>C (p.Met2011Ile)
11g.121162189G=CA2004743135TBCEL-TECTA,TECTAc.5091G= (p.Met1697=)
c.5076G= (p.Met1692=)
c.2383G=
n.1012G=
c.6033G= (p.Met2011=)
11g.121162189G>TCA383031727TBCEL-TECTA,TECTAc.5091G>T (p.Met1697Ile)
c.5076G>T (p.Met1692Ile)
c.2383G>T
n.1012G>T
c.6033G>T (p.Met2011Ile)
11g.121162190_121162204delCA2725115366TBCEL-TECTA,TECTAc.5092_5106del (p.Lys1698_Gln1702del)
c.5077_5091del (p.Lys1693_Gln1697del)
c.2384_2398del
n.1013_1027del
c.6034_6048del (p.Lys2012_Gln2016del)
 dbSNP
11g.121162190A=CA2004743139TBCEL-TECTA,TECTAc.5092A= (p.Lys1698=)
c.5077A= (p.Lys1693=)
c.2384A=
n.1013A=
c.6034A= (p.Lys2012=)
11g.121162190A>CCA383031729TBCEL-TECTA,TECTAc.5092A>C (p.Lys1698Gln)
c.5077A>C (p.Lys1693Gln)
c.2384A>C
n.1013A>C
c.6034A>C (p.Lys2012Gln)
11g.121162190A>GCA383031731TBCEL-TECTA,TECTAc.5092A>G (p.Lys1698Glu)
c.5077A>G (p.Lys1693Glu)
c.2384A>G
n.1013A>G
c.6034A>G (p.Lys2012Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.121162190A>TCA383031733TBCEL-TECTA,TECTAc.5092A>T (p.Lys1698Ter)
c.5077A>T (p.Lys1693Ter)
c.2384A>T
n.1013A>T
c.6034A>T (p.Lys2012Ter)
11g.121162191A>CCA383031738TBCEL-TECTA,TECTAc.5093A>C (p.Lys1698Thr)
c.5078A>C (p.Lys1693Thr)
c.2385A>C
n.1014A>C
c.6035A>C (p.Lys2012Thr)
11g.121162191A>GCA383031740TBCEL-TECTA,TECTAc.5093A>G (p.Lys1698Arg)
c.5078A>G (p.Lys1693Arg)
c.2385A>G
n.1014A>G
c.6035A>G (p.Lys2012Arg)
11g.121162191A>TCA383031736TBCEL-TECTA,TECTAc.5093A>T (p.Lys1698Met)
c.5078A>T (p.Lys1693Met)
c.2385A>T
n.1014A>T
c.6035A>T (p.Lys2012Met)
11g.121162191_121162213delinsAGGGCTTCTTCCAGCCCTGCTATCA2004743142TBCEL-TECTA,TECTAc.5093_5115delinsAGGGCTTCTTCCAGCCCTGCTAT (p.Lys1698=)
c.5078_5100delinsAGGGCTTCTTCCAGCCCTGCTAT (p.Lys1693=)
c.2385_2407delinsAGGGCTTCTTCCAGCCCTGCTAT
n.1014_1036delinsAGGGCTTCTTCCAGCCCTGCTAT
c.6035_6057delinsAGGGCTTCTTCCAGCCCTGCTAT (p.Lys2012=)
11g.121162192G>ACA477384219TBCEL-TECTA,TECTAc.5094G>A (p.Lys1698=)
c.5079G>A (p.Lys1693=)
c.2386G>A
n.1015G>A
c.6036G>A (p.Lys2012=)
 gnomAD v4
11g.121162192G>CCA383031742TBCEL-TECTA,TECTAc.5094G>C (p.Lys1698Asn)
c.5079G>C (p.Lys1693Asn)
c.2386G>C
n.1015G>C
c.6036G>C (p.Lys2012Asn)
11g.121162192G>TCA383031744TBCEL-TECTA,TECTAc.5094G>T (p.Lys1698Asn)
c.5079G>T (p.Lys1693Asn)
c.2386G>T
n.1015G>T
c.6036G>T (p.Lys2012Asn)
11g.121162200_121162221delCA602580328TBCEL-TECTA,TECTAc.5102_5123del (p.Phe1701SerfsTer?)
c.5087_5108del (p.Phe1696SerfsTer?)
c.2394_2415del
n.1023_1044del
c.6044_6065del (p.Phe2015SerfsTer?)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched