Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121166703T>ACA383034572TBCEL-TECTA,TECTAc.5509T>A (p.Cys1837Ser)
c.5494T>A (p.Cys1832Ser)
c.2801T>A
n.1430T>A
c.6451T>A (p.Cys2151Ser)
11g.121166703T>CCA254072TBCEL-TECTA,TECTAc.5509T>C (p.Cys1837Arg)
c.5494T>C (p.Cys1832Arg)
c.2801T>C
n.1430T>C
c.6451T>C (p.Cys2151Arg)
 ClinVar dbSNP
11g.121166703T>GCA254069TBCEL-TECTA,TECTAc.5509T>G (p.Cys1837Gly)
c.5494T>G (p.Cys1832Gly)
c.2801T>G
n.1430T>G
c.6451T>G (p.Cys2151Gly)
 ClinVar dbSNP
11g.121166703T=CA2004749463TBCEL-TECTA,TECTAc.5509T= (p.Cys1837=)
c.5494T= (p.Cys1832=)
c.2801T=
n.1430T=
c.6451T= (p.Cys2151=)
11g.121166704G>ACA383034573TBCEL-TECTA,TECTAc.5510G>A (p.Cys1837Tyr)
c.5495G>A (p.Cys1832Tyr)
c.2802G>A
n.1431G>A
c.6452G>A (p.Cys2151Tyr)
 ClinVar dbSNP gnomAD v4
11g.121166704G>CCA383034574TBCEL-TECTA,TECTAc.5510G>C (p.Cys1837Ser)
c.5495G>C (p.Cys1832Ser)
c.2802G>C
n.1431G>C
c.6452G>C (p.Cys2151Ser)
11g.121166704G=CA2004749478TBCEL-TECTA,TECTAc.5510G= (p.Cys1837=)
c.5495G= (p.Cys1832=)
c.2802G=
n.1431G=
c.6452G= (p.Cys2151=)
11g.121166704G>TCA383034575TBCEL-TECTA,TECTAc.5510G>T (p.Cys1837Phe)
c.5495G>T (p.Cys1832Phe)
c.2802G>T
n.1431G>T
c.6452G>T (p.Cys2151Phe)
11g.121166705C>ACA383034578TBCEL-TECTA,TECTAc.5511C>A (p.Cys1837Ter)
c.5496C>A (p.Cys1832Ter)
c.2803C>A
n.1432C>A
c.6453C>A (p.Cys2151Ter)
 gnomAD v4
11g.121166705C=CA2004749492TBCEL-TECTA,TECTAc.5511C= (p.Cys1837=)
c.5496C= (p.Cys1832=)
c.2803C=
n.1432C=
c.6453C= (p.Cys2151=)
11g.121166705C>GCA383034580TBCEL-TECTA,TECTAc.5511C>G (p.Cys1837Trp)
c.5496C>G (p.Cys1832Trp)
c.2803C>G
n.1432C>G
c.6453C>G (p.Cys2151Trp)
11g.121166705C>TCA229851053TBCEL-TECTA,TECTAc.5511C>T (p.Cys1837=)
c.5496C>T (p.Cys1832=)
c.2803C>T
n.1432C>T
c.6453C>T (p.Cys2151=)
 dbSNP
11g.121166706A=CA2004749504TBCEL-TECTA,TECTAc.5512A= (p.Thr1838=)
c.5497A= (p.Thr1833=)
c.2804A=
n.1433A=
c.6454A= (p.Thr2152=)
11g.121166706A>CCA383034584TBCEL-TECTA,TECTAc.5512A>C (p.Thr1838Pro)
c.5497A>C (p.Thr1833Pro)
c.2804A>C
n.1433A>C
c.6454A>C (p.Thr2152Pro)
11g.121166706A>GCA383034589TBCEL-TECTA,TECTAc.5512A>G (p.Thr1838Ala)
c.5497A>G (p.Thr1833Ala)
c.2804A>G
n.1433A>G
c.6454A>G (p.Thr2152Ala)
 dbSNP COSMIC
11g.121166706A>TCA383034586TBCEL-TECTA,TECTAc.5512A>T (p.Thr1838Ser)
c.5497A>T (p.Thr1833Ser)
c.2804A>T
n.1433A>T
c.6454A>T (p.Thr2152Ser)
11g.121166707C>ACA383034592TBCEL-TECTA,TECTAc.5513C>A (p.Thr1838Asn)
c.5498C>A (p.Thr1833Asn)
c.2805C>A
n.1434C>A
c.6455C>A (p.Thr2152Asn)
 gnomAD v4
11g.121166707C>GCA383034594TBCEL-TECTA,TECTAc.5513C>G (p.Thr1838Ser)
c.5498C>G (p.Thr1833Ser)
c.2805C>G
n.1434C>G
c.6455C>G (p.Thr2152Ser)
11g.121166707C>TCA383034597TBCEL-TECTA,TECTAc.5513C>T (p.Thr1838Ile)
c.5498C>T (p.Thr1833Ile)
c.2805C>T
n.1434C>T
c.6455C>T (p.Thr2152Ile)
11g.121166708C>ACA477217310TBCEL-TECTA,TECTAc.5514C>A (p.Thr1838=)
c.5499C>A (p.Thr1833=)
c.2806C>A
n.1435C>A
c.6456C>A (p.Thr2152=)
11g.121166708C=CA2004749512TBCEL-TECTA,TECTAc.5514C= (p.Thr1838=)
c.5499C= (p.Thr1833=)
c.2806C=
n.1435C=
c.6456C= (p.Thr2152=)
11g.121166708C>GCA6327739TBCEL-TECTA,TECTAc.5514C>G (p.Thr1838=)
c.5499C>G (p.Thr1833=)
c.2806C>G
n.1435C>G
c.6456C>G (p.Thr2152=)
 dbSNP ExAC
11g.121166708C>TCA6327738TBCEL-TECTA,TECTAc.5514C>T (p.Thr1838=)
c.5499C>T (p.Thr1833=)
c.2806C>T
n.1435C>T
c.6456C>T (p.Thr2152=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121166710_121166715dupCA2616488601TBCEL-TECTA,TECTAc.5516_5521dup (p.Ile1840_Glu1841insGlyIle)
c.5501_5506dup (p.Ile1835_Glu1836insGlyIle)
c.2808_2813dup
n.1437_1442dup
c.6458_6463dup (p.Ile2154_Glu2155insGlyIle)
 gnomAD v4
11g.121166709G>ACA6327740TBCEL-TECTA,TECTAc.5515G>A (p.Gly1839Ser)
c.5500G>A (p.Gly1834Ser)
c.2807G>A
n.1436G>A
c.6457G>A (p.Gly2153Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121166709G>CCA383034611TBCEL-TECTA,TECTAc.5515G>C (p.Gly1839Arg)
c.5500G>C (p.Gly1834Arg)
c.2807G>C
n.1436G>C
c.6457G>C (p.Gly2153Arg)
 gnomAD v4
11g.121166709G=CA2004749518TBCEL-TECTA,TECTAc.5515G= (p.Gly1839=)
c.5500G= (p.Gly1834=)
c.2807G=
n.1436G=
c.6457G= (p.Gly2153=)
11g.121166709G>TCA383034614TBCEL-TECTA,TECTAc.5515G>T (p.Gly1839Cys)
c.5500G>T (p.Gly1834Cys)
c.2807G>T
n.1436G>T
c.6457G>T (p.Gly2153Cys)
11g.121166710G>ACA6327741TBCEL-TECTA,TECTAc.5516G>A (p.Gly1839Asp)
c.5501G>A (p.Gly1834Asp)
c.2808G>A
n.1437G>A
c.6458G>A (p.Gly2153Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121166710G>CCA383034619TBCEL-TECTA,TECTAc.5516G>C (p.Gly1839Ala)
c.5501G>C (p.Gly1834Ala)
c.2808G>C
n.1437G>C
c.6458G>C (p.Gly2153Ala)
11g.121166710G=CA2004749523TBCEL-TECTA,TECTAc.5516G= (p.Gly1839=)
c.5501G= (p.Gly1834=)
c.2808G=
n.1437G=
c.6458G= (p.Gly2153=)
11g.121166710G>TCA383034624TBCEL-TECTA,TECTAc.5516G>T (p.Gly1839Val)
c.5501G>T (p.Gly1834Val)
c.2808G>T
n.1437G>T
c.6458G>T (p.Gly2153Val)
11g.121166711C>ACA477217314TBCEL-TECTA,TECTAc.5517C>A (p.Gly1839=)
c.5502C>A (p.Gly1834=)
c.2809C>A
n.1438C>A
c.6459C>A (p.Gly2153=)
11g.121166711C=CA2004749532TBCEL-TECTA,TECTAc.5517C= (p.Gly1839=)
c.5502C= (p.Gly1834=)
c.2809C=
n.1438C=
c.6459C= (p.Gly2153=)
11g.121166711C>GCA477217315TBCEL-TECTA,TECTAc.5517C>G (p.Gly1839=)
c.5502C>G (p.Gly1834=)
c.2809C>G
n.1438C>G
c.6459C>G (p.Gly2153=)
11g.121166711C>TCA477217316TBCEL-TECTA,TECTAc.5517C>T (p.Gly1839=)
c.5502C>T (p.Gly1834=)
c.2809C>T
n.1438C>T
c.6459C>T (p.Gly2153=)
 dbSNP
11g.121166712A=CA2004749533TBCEL-TECTA,TECTAc.5518A= (p.Ile1840=)
c.5503A= (p.Ile1835=)
c.2810A=
n.1439A=
c.6460A= (p.Ile2154=)
11g.121166712A>CCA383034629TBCEL-TECTA,TECTAc.5518A>C (p.Ile1840Leu)
c.5503A>C (p.Ile1835Leu)
c.2810A>C
n.1439A>C
c.6460A>C (p.Ile2154Leu)
11g.121166712A>GCA383034627TBCEL-TECTA,TECTAc.5518A>G (p.Ile1840Val)
c.5503A>G (p.Ile1835Val)
c.2810A>G
n.1439A>G
c.6460A>G (p.Ile2154Val)
 dbSNP gnomAD v2 gnomAD v4
11g.121166712A>TCA383034625TBCEL-TECTA,TECTAc.5518A>T (p.Ile1840Phe)
c.5503A>T (p.Ile1835Phe)
c.2810A>T
n.1439A>T
c.6460A>T (p.Ile2154Phe)
11g.121166713T>ACA383034630TBCEL-TECTA,TECTAc.5519T>A (p.Ile1840Asn)
c.5504T>A (p.Ile1835Asn)
c.2811T>A
n.1440T>A
c.6461T>A (p.Ile2154Asn)
11g.121166713T>CCA229851068TBCEL-TECTA,TECTAc.5519T>C (p.Ile1840Thr)
c.5504T>C (p.Ile1835Thr)
c.2811T>C
n.1440T>C
c.6461T>C (p.Ile2154Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.121166713T>GCA383034631TBCEL-TECTA,TECTAc.5519T>G (p.Ile1840Ser)
c.5504T>G (p.Ile1835Ser)
c.2811T>G
n.1440T>G
c.6461T>G (p.Ile2154Ser)
11g.121166713T=CA2004749535TBCEL-TECTA,TECTAc.5519T= (p.Ile1840=)
c.5504T= (p.Ile1835=)
c.2811T=
n.1440T=
c.6461T= (p.Ile2154=)
11g.121166714C>ACA477217318TBCEL-TECTA,TECTAc.5520C>A (p.Ile1840=)
c.5505C>A (p.Ile1835=)
c.2812C>A
n.1441C>A
c.6462C>A (p.Ile2154=)
11g.121166714C=CA2004749539TBCEL-TECTA,TECTAc.5520C= (p.Ile1840=)
c.5505C= (p.Ile1835=)
c.2812C=
n.1441C=
c.6462C= (p.Ile2154=)
11g.121166714C>GCA383034633TBCEL-TECTA,TECTAc.5520C>G (p.Ile1840Met)
c.5505C>G (p.Ile1835Met)
c.2812C>G
n.1441C>G
c.6462C>G (p.Ile2154Met)
11g.121166714C>TCA6327742TBCEL-TECTA,TECTAc.5520C>T (p.Ile1840=)
c.5505C>T (p.Ile1835=)
c.2812C>T
n.1441C>T
c.6462C>T (p.Ile2154=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121166715G>ACA6327743TBCEL-TECTA,TECTAc.5521G>A (p.Glu1841Lys)
c.5506G>A (p.Glu1836Lys)
c.2813G>A
n.1442G>A
c.6463G>A (p.Glu2155Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121166715G>CCA383034639TBCEL-TECTA,TECTAc.5521G>C (p.Glu1841Gln)
c.5506G>C (p.Glu1836Gln)
c.2813G>C
n.1442G>C
c.6463G>C (p.Glu2155Gln)

Number of alleles fetched