Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
11g.121162193G>ACA383031747TBCEL-TECTA,TECTAc.5095G>A (p.Gly1699Ser)
c.5080G>A (p.Gly1694Ser)
c.2387G>A
n.1016G>A
c.6037G>A (p.Gly2013Ser)
11g.121162193G>CCA383031748TBCEL-TECTA,TECTAc.5095G>C (p.Gly1699Arg)
c.5080G>C (p.Gly1694Arg)
c.2387G>C
n.1016G>C
c.6037G>C (p.Gly2013Arg)
11g.121162193G>TCA383031750TBCEL-TECTA,TECTAc.5095G>T (p.Gly1699Cys)
c.5080G>T (p.Gly1694Cys)
c.2387G>T
n.1016G>T
c.6037G>T (p.Gly2013Cys)
11g.121162193_121162194delinsAACA645572012TBCEL-TECTA,TECTAc.5095_5096delinsAA (p.Gly1699Asn)
c.5080_5081delinsAA (p.Gly1694Asn)
c.2387_2388delinsAA
n.1016_1017delinsAA
c.6037_6038delinsAA (p.Gly2013Asn)
 COSMIC
11g.121162194G>ACA383031752TBCEL-TECTA,TECTAc.5096G>A (p.Gly1699Asp)
c.5081G>A (p.Gly1694Asp)
c.2388G>A
n.1017G>A
c.6038G>A (p.Gly2013Asp)
 gnomAD v4
11g.121162194G>CCA383031754TBCEL-TECTA,TECTAc.5096G>C (p.Gly1699Ala)
c.5081G>C (p.Gly1694Ala)
c.2388G>C
n.1017G>C
c.6038G>C (p.Gly2013Ala)
11g.121162194G>TCA383031756TBCEL-TECTA,TECTAc.5096G>T (p.Gly1699Val)
c.5081G>T (p.Gly1694Val)
c.2388G>T
n.1017G>T
c.6038G>T (p.Gly2013Val)
11g.121162195C>ACA477384224TBCEL-TECTA,TECTAc.5097C>A (p.Gly1699=)
c.5082C>A (p.Gly1694=)
c.2389C>A
n.1018C>A
c.6039C>A (p.Gly2013=)
11g.121162195C>GCA477384227TBCEL-TECTA,TECTAc.5097C>G (p.Gly1699=)
c.5082C>G (p.Gly1694=)
c.2389C>G
n.1018C>G
c.6039C>G (p.Gly2013=)
11g.121162195C>TCA477384222TBCEL-TECTA,TECTAc.5097C>T (p.Gly1699=)
c.5082C>T (p.Gly1694=)
c.2389C>T
n.1018C>T
c.6039C>T (p.Gly2013=)
 COSMIC
11g.121162196T>ACA383031758TBCEL-TECTA,TECTAc.5098T>A (p.Phe1700Ile)
c.5083T>A (p.Phe1695Ile)
c.2390T>A
n.1019T>A
c.6040T>A (p.Phe2014Ile)
11g.121162196T>CCA383031760TBCEL-TECTA,TECTAc.5098T>C (p.Phe1700Leu)
c.5083T>C (p.Phe1695Leu)
c.2390T>C
n.1019T>C
c.6040T>C (p.Phe2014Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.121162196T>GCA383031762TBCEL-TECTA,TECTAc.5098T>G (p.Phe1700Val)
c.5083T>G (p.Phe1695Val)
c.2390T>G
n.1019T>G
c.6040T>G (p.Phe2014Val)
11g.121162196T=CA2004743153TBCEL-TECTA,TECTAc.5098T= (p.Phe1700=)
c.5083T= (p.Phe1695=)
c.2390T=
n.1019T=
c.6040T= (p.Phe2014=)
11g.121162197T>ACA383031765TBCEL-TECTA,TECTAc.5099T>A (p.Phe1700Tyr)
c.5084T>A (p.Phe1695Tyr)
c.2391T>A
n.1020T>A
c.6041T>A (p.Phe2014Tyr)
11g.121162197T>CCA383031767TBCEL-TECTA,TECTAc.5099T>C (p.Phe1700Ser)
c.5084T>C (p.Phe1695Ser)
c.2391T>C
n.1020T>C
c.6041T>C (p.Phe2014Ser)
11g.121162197T>GCA383031769TBCEL-TECTA,TECTAc.5099T>G (p.Phe1700Cys)
c.5084T>G (p.Phe1695Cys)
c.2391T>G
n.1020T>G
c.6041T>G (p.Phe2014Cys)
11g.121162198C>ACA383031771TBCEL-TECTA,TECTAc.5100C>A (p.Phe1700Leu)
c.5085C>A (p.Phe1695Leu)
c.2392C>A
n.1021C>A
c.6042C>A (p.Phe2014Leu)
11g.121162198C=CA2004743160TBCEL-TECTA,TECTAc.5100C= (p.Phe1700=)
c.5085C= (p.Phe1695=)
c.2392C=
n.1021C=
c.6042C= (p.Phe2014=)
11g.121162198C>GCA383031773TBCEL-TECTA,TECTAc.5100C>G (p.Phe1700Leu)
c.5085C>G (p.Phe1695Leu)
c.2392C>G
n.1021C>G
c.6042C>G (p.Phe2014Leu)
11g.121162198C>TCA477384233TBCEL-TECTA,TECTAc.5100C>T (p.Phe1700=)
c.5085C>T (p.Phe1695=)
c.2392C>T
n.1021C>T
c.6042C>T (p.Phe2014=)
 dbSNP gnomAD v2 gnomAD v4
11g.121162199T>ACA383031776TBCEL-TECTA,TECTAc.5101T>A (p.Phe1701Ile)
c.5086T>A (p.Phe1696Ile)
c.2393T>A
n.1022T>A
c.6043T>A (p.Phe2015Ile)
11g.121162199T>CCA383031778TBCEL-TECTA,TECTAc.5101T>C (p.Phe1701Leu)
c.5086T>C (p.Phe1696Leu)
c.2393T>C
n.1022T>C
c.6043T>C (p.Phe2015Leu)
11g.121162199T>GCA383031780TBCEL-TECTA,TECTAc.5101T>G (p.Phe1701Val)
c.5086T>G (p.Phe1696Val)
c.2393T>G
n.1022T>G
c.6043T>G (p.Phe2015Val)
11g.121162200T>ACA383031781TBCEL-TECTA,TECTAc.5102T>A (p.Phe1701Tyr)
c.5087T>A (p.Phe1696Tyr)
c.2394T>A
n.1023T>A
c.6044T>A (p.Phe2015Tyr)
11g.121162200T>CCA383031782TBCEL-TECTA,TECTAc.5102T>C (p.Phe1701Ser)
c.5087T>C (p.Phe1696Ser)
c.2394T>C
n.1023T>C
c.6044T>C (p.Phe2015Ser)
11g.121162200T>GCA383031784TBCEL-TECTA,TECTAc.5102T>G (p.Phe1701Cys)
c.5087T>G (p.Phe1696Cys)
c.2394T>G
n.1023T>G
c.6044T>G (p.Phe2015Cys)
11g.121162201C>ACA383031786TBCEL-TECTA,TECTAc.5103C>A (p.Phe1701Leu)
c.5088C>A (p.Phe1696Leu)
c.2395C>A
n.1024C>A
c.6045C>A (p.Phe2015Leu)
11g.121162201C>GCA383031787TBCEL-TECTA,TECTAc.5103C>G (p.Phe1701Leu)
c.5088C>G (p.Phe1696Leu)
c.2395C>G
n.1024C>G
c.6045C>G (p.Phe2015Leu)
11g.121162201C>TCA477384237TBCEL-TECTA,TECTAc.5103C>T (p.Phe1701=)
c.5088C>T (p.Phe1696=)
c.2395C>T
n.1024C>T
c.6045C>T (p.Phe2015=)
 gnomAD v4
11g.121162202C>ACA383031791TBCEL-TECTA,TECTAc.5104C>A (p.Gln1702Lys)
c.5089C>A (p.Gln1697Lys)
c.2396C>A
n.1025C>A
c.6046C>A (p.Gln2016Lys)
11g.121162202C>GCA383031792TBCEL-TECTA,TECTAc.5104C>G (p.Gln1702Glu)
c.5089C>G (p.Gln1697Glu)
c.2396C>G
n.1025C>G
c.6046C>G (p.Gln2016Glu)
11g.121162202C>TCA383031794TBCEL-TECTA,TECTAc.5104C>T (p.Gln1702Ter)
c.5089C>T (p.Gln1697Ter)
c.2396C>T
n.1025C>T
c.6046C>T (p.Gln2016Ter)

Number of alleles fetched