Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121168672T>GCA2793889352TBCEL-TECTA,TECTAc.5751-5T>G (n.5751-5T>G)
c.5736-5T>G (n.5736-5T>G)
c.3043-5T>G
n.2126T>G
c.6693-5T>G (n.6693-5T>G)
11g.121168675A>CCA383036367TBCEL-TECTA,TECTAc.5751-2A>C (n.5751-2A>C)
c.5736-2A>C (n.5736-2A>C)
c.3043-2A>C
n.2129A>C
c.6693-2A>C (n.6693-2A>C)
11g.121168675A>GCA383036370TBCEL-TECTA,TECTAc.5751-2A>G (n.5751-2A>G)
c.5736-2A>G (n.5736-2A>G)
c.3043-2A>G
n.2129A>G
c.6693-2A>G (n.6693-2A>G)
11g.121168675A>TCA383036372TBCEL-TECTA,TECTAc.5751-2A>T (n.5751-2A>T)
c.5736-2A>T (n.5736-2A>T)
c.3043-2A>T
n.2129A>T
c.6693-2A>T (n.6693-2A>T)
11g.121168676G>ACA383036375TBCEL-TECTA,TECTAc.5751-1G>A (n.5751-1G>A)
c.5736-1G>A (n.5736-1G>A)
c.3043-1G>A
n.2130G>A
c.6693-1G>A (n.6693-1G>A)
11g.121168676G>CCA383036377TBCEL-TECTA,TECTAc.5751-1G>C (n.5751-1G>C)
c.5736-1G>C (n.5736-1G>C)
c.3043-1G>C
n.2130G>C
c.6693-1G>C (n.6693-1G>C)
11g.121168676G>TCA383036378TBCEL-TECTA,TECTAc.5751-1G>T (n.5751-1G>T)
c.5736-1G>T (n.5736-1G>T)
c.3043-1G>T
n.2130G>T
c.6693-1G>T (n.6693-1G>T)
11g.121168677T>ACA383036379TBCEL-TECTA,TECTAc.5751T>A (p.Ser1917Arg)
c.5736T>A (p.Ser1912Arg)
c.3043T>A
n.2131T>A
c.6693T>A (p.Ser2231Arg)
11g.121168677T>CCA477383506TBCEL-TECTA,TECTAc.5751T>C (p.Ser1917=)
c.5736T>C (p.Ser1912=)
c.3043T>C
n.2131T>C
c.6693T>C (p.Ser2231=)
 gnomAD v4
11g.121168677T>GCA383036380TBCEL-TECTA,TECTAc.5751T>G (p.Ser1917Arg)
c.5736T>G (p.Ser1912Arg)
c.3043T>G
n.2131T>G
c.6693T>G (p.Ser2231Arg)
 gnomAD v4
11g.121168678G>ACA383036383TBCEL-TECTA,TECTAc.5752G>A (p.Val1918Ile)
c.5737G>A (p.Val1913Ile)
c.3044G>A
n.2132G>A
c.6694G>A (p.Val2232Ile)
11g.121168678G>CCA383036385TBCEL-TECTA,TECTAc.5752G>C (p.Val1918Leu)
c.5737G>C (p.Val1913Leu)
c.3044G>C
n.2132G>C
c.6694G>C (p.Val2232Leu)
11g.121168678G>TCA383036387TBCEL-TECTA,TECTAc.5752G>T (p.Val1918Leu)
c.5737G>T (p.Val1913Leu)
c.3044G>T
n.2132G>T
c.6694G>T (p.Val2232Leu)
11g.121168679T>ACA383036389TBCEL-TECTA,TECTAc.5753T>A (p.Val1918Glu)
c.5738T>A (p.Val1913Glu)
c.3045T>A
n.2133T>A
c.6695T>A (p.Val2232Glu)
11g.121168679T>CCA383036391TBCEL-TECTA,TECTAc.5753T>C (p.Val1918Ala)
c.5738T>C (p.Val1913Ala)
c.3045T>C
n.2133T>C
c.6695T>C (p.Val2232Ala)
11g.121168679T>GCA383036393TBCEL-TECTA,TECTAc.5753T>G (p.Val1918Gly)
c.5738T>G (p.Val1913Gly)
c.3045T>G
n.2133T>G
c.6695T>G (p.Val2232Gly)
11g.121168679_121168681delinsTAACA2004752226TBCEL-TECTA,TECTAc.5753_5755delinsTAA (p.Val1918=)
c.5738_5740delinsTAA (p.Val1913=)
c.3045_3047delinsTAA
n.2133_2135delinsTAA
c.6695_6697delinsTAA (p.Val2232=)
11g.121168680A=CA2004752234TBCEL-TECTA,TECTAc.5754A= (p.Val1918=)
c.5739A= (p.Val1913=)
c.3046A=
n.2134A=
c.6696A= (p.Val2232=)
11g.121168680A>CCA477383507TBCEL-TECTA,TECTAc.5754A>C (p.Val1918=)
c.5739A>C (p.Val1913=)
c.3046A>C
n.2134A>C
c.6696A>C (p.Val2232=)
11g.121168680A>GCA229853190TBCEL-TECTA,TECTAc.5754A>G (p.Val1918=)
c.5739A>G (p.Val1913=)
c.3046A>G
n.2134A>G
c.6696A>G (p.Val2232=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168680A>TCA6327819TBCEL-TECTA,TECTAc.5754A>T (p.Val1918=)
c.5739A>T (p.Val1913=)
c.3046A>T
n.2134A>T
c.6696A>T (p.Val2232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168680_121168681delCA658797822TBCEL-TECTA,TECTAc.5754_5755del (p.Ile1919Ter)
c.5739_5740del (p.Ile1914Ter)
c.3046_3047del
n.2134_2135del
c.6696_6697del (p.Ile2233Ter)
 ClinVar dbSNP gnomAD v4
11g.121168681A>CCA383036395TBCEL-TECTA,TECTAc.5755A>C (p.Ile1919Leu)
c.5740A>C (p.Ile1914Leu)
c.3047A>C
n.2135A>C
c.6697A>C (p.Ile2233Leu)
11g.121168681A>GCA383036397TBCEL-TECTA,TECTAc.5755A>G (p.Ile1919Val)
c.5740A>G (p.Ile1914Val)
c.3047A>G
n.2135A>G
c.6697A>G (p.Ile2233Val)
11g.121168681A>TCA383036398TBCEL-TECTA,TECTAc.5755A>T (p.Ile1919Phe)
c.5740A>T (p.Ile1914Phe)
c.3047A>T
n.2135A>T
c.6697A>T (p.Ile2233Phe)
11g.121168682T>ACA383036401TBCEL-TECTA,TECTAc.5756T>A (p.Ile1919Asn)
c.5741T>A (p.Ile1914Asn)
c.3048T>A
n.2136T>A
c.6698T>A (p.Ile2233Asn)
11g.121168682T>CCA383036403TBCEL-TECTA,TECTAc.5756T>C (p.Ile1919Thr)
c.5741T>C (p.Ile1914Thr)
c.3048T>C
n.2136T>C
c.6698T>C (p.Ile2233Thr)
11g.121168682T>GCA383036400TBCEL-TECTA,TECTAc.5756T>G (p.Ile1919Ser)
c.5741T>G (p.Ile1914Ser)
c.3048T>G
n.2136T>G
c.6698T>G (p.Ile2233Ser)
11g.121168683T>ACA477383508TBCEL-TECTA,TECTAc.5757T>A (p.Ile1919=)
c.5742T>A (p.Ile1914=)
c.3049T>A
n.2137T>A
c.6699T>A (p.Ile2233=)
11g.121168683T>CCA477383509TBCEL-TECTA,TECTAc.5757T>C (p.Ile1919=)
c.5742T>C (p.Ile1914=)
c.3049T>C
n.2137T>C
c.6699T>C (p.Ile2233=)
11g.121168683T>GCA383036405TBCEL-TECTA,TECTAc.5757T>G (p.Ile1919Met)
c.5742T>G (p.Ile1914Met)
c.3049T>G
n.2137T>G
c.6699T>G (p.Ile2233Met)
 ClinVar dbSNP
11g.121168684A=CA2004752244TBCEL-TECTA,TECTAc.5758A= (p.Asn1920=)
c.5743A= (p.Asn1915=)
c.3050A=
n.2138A=
c.6700A= (p.Asn2234=)
11g.121168684A>CCA383036407TBCEL-TECTA,TECTAc.5758A>C (p.Asn1920His)
c.5743A>C (p.Asn1915His)
c.3050A>C
n.2138A>C
c.6700A>C (p.Asn2234His)
11g.121168684A>GCA383036409TBCEL-TECTA,TECTAc.5758A>G (p.Asn1920Asp)
c.5743A>G (p.Asn1915Asp)
c.3050A>G
n.2138A>G
c.6700A>G (p.Asn2234Asp)
11g.121168684A>TCA383036411TBCEL-TECTA,TECTAc.5758A>T (p.Asn1920Tyr)
c.5743A>T (p.Asn1915Tyr)
c.3050A>T
n.2138A>T
c.6700A>T (p.Asn2234Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.121168685A=CA2004752249TBCEL-TECTA,TECTAc.5759A= (p.Asn1920=)
c.5744A= (p.Asn1915=)
c.3051A=
n.2139A=
c.6701A= (p.Asn2234=)
11g.121168685A>CCA6327820TBCEL-TECTA,TECTAc.5759A>C (p.Asn1920Thr)
c.5744A>C (p.Asn1915Thr)
c.3051A>C
n.2139A>C
c.6701A>C (p.Asn2234Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168685A>GCA383036413TBCEL-TECTA,TECTAc.5759A>G (p.Asn1920Ser)
c.5744A>G (p.Asn1915Ser)
c.3051A>G
n.2139A>G
c.6701A>G (p.Asn2234Ser)
11g.121168685A>TCA383036415TBCEL-TECTA,TECTAc.5759A>T (p.Asn1920Ile)
c.5744A>T (p.Asn1915Ile)
c.3051A>T
n.2139A>T
c.6701A>T (p.Asn2234Ile)
11g.121168686C>ACA16603338TBCEL-TECTA,TECTAc.5760C>A (p.Asn1920Lys)
c.5745C>A (p.Asn1915Lys)
c.3052C>A
n.2140C>A
c.6702C>A (p.Asn2234Lys)
 ClinVar dbSNP gnomAD v4
11g.121168686C=CA2004752257TBCEL-TECTA,TECTAc.5760C= (p.Asn1920=)
c.5745C= (p.Asn1915=)
c.3052C=
n.2140C=
c.6702C= (p.Asn2234=)
11g.121168686C>GCA383036418TBCEL-TECTA,TECTAc.5760C>G (p.Asn1920Lys)
c.5745C>G (p.Asn1915Lys)
c.3052C>G
n.2140C>G
c.6702C>G (p.Asn2234Lys)
11g.121168686C>TCA477383513TBCEL-TECTA,TECTAc.5760C>T (p.Asn1920=)
c.5745C>T (p.Asn1915=)
c.3052C>T
n.2140C>T
c.6702C>T (p.Asn2234=)
11g.121168687C>ACA383036420TBCEL-TECTA,TECTAc.5761C>A (p.Leu1921Met)
c.5746C>A (p.Leu1916Met)
c.3053C>A
n.2141C>A
c.6703C>A (p.Leu2235Met)
11g.121168687C=CA2004752263TBCEL-TECTA,TECTAc.5761C= (p.Leu1921=)
c.5746C= (p.Leu1916=)
c.3053C=
n.2141C=
c.6703C= (p.Leu2235=)
11g.121168687C>GCA383036421TBCEL-TECTA,TECTAc.5761C>G (p.Leu1921Val)
c.5746C>G (p.Leu1916Val)
c.3053C>G
n.2141C>G
c.6703C>G (p.Leu2235Val)
11g.121168687C>TCA6327821TBCEL-TECTA,TECTAc.5761C>T (p.Leu1921=)
c.5746C>T (p.Leu1916=)
c.3053C>T
n.2141C>T
c.6703C>T (p.Leu2235=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168688T>ACA383036427TBCEL-TECTA,TECTAc.5762T>A (p.Leu1921Gln)
c.5747T>A (p.Leu1916Gln)
c.3054T>A
n.2142T>A
c.6704T>A (p.Leu2235Gln)
11g.121168688T>CCA383036424TBCEL-TECTA,TECTAc.5762T>C (p.Leu1921Pro)
c.5747T>C (p.Leu1916Pro)
c.3054T>C
n.2142T>C
c.6704T>C (p.Leu2235Pro)
11g.121168688T>GCA383036426TBCEL-TECTA,TECTAc.5762T>G (p.Leu1921Arg)
c.5747T>G (p.Leu1916Arg)
c.3054T>G
n.2142T>G
c.6704T>G (p.Leu2235Arg)
 gnomAD v4
11g.121168689G>ACA477383517TBCEL-TECTA,TECTAc.5763G>A (p.Leu1921=)
c.5748G>A (p.Leu1916=)
c.3055G>A
n.2143G>A
c.6705G>A (p.Leu2235=)
11g.121168689G>CCA477383518TBCEL-TECTA,TECTAc.5763G>C (p.Leu1921=)
c.5748G>C (p.Leu1916=)
c.3055G>C
n.2143G>C
c.6705G>C (p.Leu2235=)
 COSMIC
11g.121168689G>TCA477383519TBCEL-TECTA,TECTAc.5763G>T (p.Leu1921=)
c.5748G>T (p.Leu1916=)
c.3055G>T
n.2143G>T
c.6705G>T (p.Leu2235=)
11g.121168690delCA2568179315TBCEL-TECTA,TECTAc.5764del (p.Thr1922GlnfsTer30)
c.5749del (p.Thr1917GlnfsTer30)
c.3056del
n.2144del
c.6706del (p.Thr2236GlnfsTer30)
11g.121168690A>CCA383036430TBCEL-TECTA,TECTAc.5764A>C (p.Thr1922Pro)
c.5749A>C (p.Thr1917Pro)
c.3056A>C
n.2144A>C
c.6706A>C (p.Thr2236Pro)
11g.121168690A>GCA383036432TBCEL-TECTA,TECTAc.5764A>G (p.Thr1922Ala)
c.5749A>G (p.Thr1917Ala)
c.3056A>G
n.2144A>G
c.6706A>G (p.Thr2236Ala)
11g.121168690A>TCA383036434TBCEL-TECTA,TECTAc.5764A>T (p.Thr1922Ser)
c.5749A>T (p.Thr1917Ser)
c.3056A>T
n.2144A>T
c.6706A>T (p.Thr2236Ser)
11g.121168691C>ACA383036436TBCEL-TECTA,TECTAc.5765C>A (p.Thr1922Lys)
c.5750C>A (p.Thr1917Lys)
c.3057C>A
n.2145C>A
c.6707C>A (p.Thr2236Lys)
11g.121168691C=CA2004752266TBCEL-TECTA,TECTAc.5765C= (p.Thr1922=)
c.5750C= (p.Thr1917=)
c.3057C=
n.2145C=
c.6707C= (p.Thr2236=)
11g.121168691C>GCA383036438TBCEL-TECTA,TECTAc.5765C>G (p.Thr1922Arg)
c.5750C>G (p.Thr1917Arg)
c.3057C>G
n.2145C>G
c.6707C>G (p.Thr2236Arg)
 dbSNP
11g.121168691C>TCA6327822TBCEL-TECTA,TECTAc.5765C>T (p.Thr1922Ile)
c.5750C>T (p.Thr1917Ile)
c.3057C>T
n.2145C>T
c.6707C>T (p.Thr2236Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168692A=CA2004752273TBCEL-TECTA,TECTAc.5766A= (p.Thr1922=)
c.5751A= (p.Thr1917=)
c.3058A=
n.2146A=
c.6708A= (p.Thr2236=)
11g.121168692A>CCA477383522TBCEL-TECTA,TECTAc.5766A>C (p.Thr1922=)
c.5751A>C (p.Thr1917=)
c.3058A>C
n.2146A>C
c.6708A>C (p.Thr2236=)
11g.121168692A>GCA6327823TBCEL-TECTA,TECTAc.5766A>G (p.Thr1922=)
c.5751A>G (p.Thr1917=)
c.3058A>G
n.2146A>G
c.6708A>G (p.Thr2236=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168692A>TCA477383523TBCEL-TECTA,TECTAc.5766A>T (p.Thr1922=)
c.5751A>T (p.Thr1917=)
c.3058A>T
n.2146A>T
c.6708A>T (p.Thr2236=)
11g.121168693G>ACA383036441TBCEL-TECTA,TECTAc.5767G>A (p.Val1923Ile)
c.5752G>A (p.Val1918Ile)
c.3059G>A
n.2147G>A
c.6709G>A (p.Val2237Ile)
11g.121168693G>CCA383036443TBCEL-TECTA,TECTAc.5767G>C (p.Val1923Leu)
c.5752G>C (p.Val1918Leu)
c.3059G>C
n.2147G>C
c.6709G>C (p.Val2237Leu)
 gnomAD v4
11g.121168693G>TCA383036444TBCEL-TECTA,TECTAc.5767G>T (p.Val1923Phe)
c.5752G>T (p.Val1918Phe)
c.3059G>T
n.2147G>T
c.6709G>T (p.Val2237Phe)
11g.121168694T>ACA383036447TBCEL-TECTA,TECTAc.5768T>A (p.Val1923Asp)
c.5753T>A (p.Val1918Asp)
c.3060T>A
n.2148T>A
c.6710T>A (p.Val2237Asp)
11g.121168694T>CCA383036449TBCEL-TECTA,TECTAc.5768T>C (p.Val1923Ala)
c.5753T>C (p.Val1918Ala)
c.3060T>C
n.2148T>C
c.6710T>C (p.Val2237Ala)
11g.121168694T>GCA383036450TBCEL-TECTA,TECTAc.5768T>G (p.Val1923Gly)
c.5753T>G (p.Val1918Gly)
c.3060T>G
n.2148T>G
c.6710T>G (p.Val2237Gly)
11g.121168695T>ACA477383528TBCEL-TECTA,TECTAc.5769T>A (p.Val1923=)
c.5754T>A (p.Val1918=)
c.3061T>A
n.2149T>A
c.6711T>A (p.Val2237=)
 dbSNP
11g.121168695T>CCA477383529TBCEL-TECTA,TECTAc.5769T>C (p.Val1923=)
c.5754T>C (p.Val1918=)
c.3061T>C
n.2149T>C
c.6711T>C (p.Val2237=)
11g.121168695T>GCA477383530TBCEL-TECTA,TECTAc.5769T>G (p.Val1923=)
c.5754T>G (p.Val1918=)
c.3061T>G
n.2149T>G
c.6711T>G (p.Val2237=)
11g.121168695T=CA2004752285TBCEL-TECTA,TECTAc.5769T= (p.Val1923=)
c.5754T= (p.Val1918=)
c.3061T=
n.2149T=
c.6711T= (p.Val2237=)
11g.121168696C>ACA10638066TBCEL-TECTA,TECTAc.5770C>A (p.Pro1924Thr)
c.5755C>A (p.Pro1919Thr)
c.3062C>A
n.2150C>A
c.6712C>A (p.Pro2238Thr)
 ClinVar dbSNP gnomAD v4
11g.121168696C=CA2004752294TBCEL-TECTA,TECTAc.5770C= (p.Pro1924=)
c.5755C= (p.Pro1919=)
c.3062C=
n.2150C=
c.6712C= (p.Pro2238=)
11g.121168696C>GCA383036455TBCEL-TECTA,TECTAc.5770C>G (p.Pro1924Ala)
c.5755C>G (p.Pro1919Ala)
c.3062C>G
n.2150C>G
c.6712C>G (p.Pro2238Ala)
11g.121168696C>TCA383036452TBCEL-TECTA,TECTAc.5770C>T (p.Pro1924Ser)
c.5755C>T (p.Pro1919Ser)
c.3062C>T
n.2150C>T
c.6712C>T (p.Pro2238Ser)
11g.121168697C>ACA383036461TBCEL-TECTA,TECTAc.5771C>A (p.Pro1924Gln)
c.5756C>A (p.Pro1919Gln)
c.3063C>A
n.2151C>A
c.6713C>A (p.Pro2238Gln)
 gnomAD v4
11g.121168697C>GCA383036458TBCEL-TECTA,TECTAc.5771C>G (p.Pro1924Arg)
c.5756C>G (p.Pro1919Arg)
c.3063C>G
n.2151C>G
c.6713C>G (p.Pro2238Arg)
 gnomAD v4
11g.121168697C>TCA383036460TBCEL-TECTA,TECTAc.5771C>T (p.Pro1924Leu)
c.5756C>T (p.Pro1919Leu)
c.3063C>T
n.2151C>T
c.6713C>T (p.Pro2238Leu)
 gnomAD v4
11g.121168698A>CCA477383532TBCEL-TECTA,TECTAc.5772A>C (p.Pro1924=)
c.5757A>C (p.Pro1919=)
c.3064A>C
n.2152A>C
c.6714A>C (p.Pro2238=)
11g.121168698A>GCA477383533TBCEL-TECTA,TECTAc.5772A>G (p.Pro1924=)
c.5757A>G (p.Pro1919=)
c.3064A>G
n.2152A>G
c.6714A>G (p.Pro2238=)
11g.121168698A>TCA477383534TBCEL-TECTA,TECTAc.5772A>T (p.Pro1924=)
c.5757A>T (p.Pro1919=)
c.3064A>T
n.2152A>T
c.6714A>T (p.Pro2238=)
11g.121168699A>CCA383036463TBCEL-TECTA,TECTAc.5773A>C (p.Thr1925Pro)
c.5758A>C (p.Thr1920Pro)
c.3065A>C
n.2153A>C
c.6715A>C (p.Thr2239Pro)
11g.121168699A>GCA383036465TBCEL-TECTA,TECTAc.5773A>G (p.Thr1925Ala)
c.5758A>G (p.Thr1920Ala)
c.3065A>G
n.2153A>G
c.6715A>G (p.Thr2239Ala)
11g.121168699A>TCA383036467TBCEL-TECTA,TECTAc.5773A>T (p.Thr1925Ser)
c.5758A>T (p.Thr1920Ser)
c.3065A>T
n.2153A>T
c.6715A>T (p.Thr2239Ser)
11g.121168700C>ACA383036469TBCEL-TECTA,TECTAc.5774C>A (p.Thr1925Asn)
c.5759C>A (p.Thr1920Asn)
c.3066C>A
n.2154C>A
c.6716C>A (p.Thr2239Asn)
 gnomAD v4
11g.121168700C>GCA383036471TBCEL-TECTA,TECTAc.5774C>G (p.Thr1925Ser)
c.5759C>G (p.Thr1920Ser)
c.3066C>G
n.2154C>G
c.6716C>G (p.Thr2239Ser)
11g.121168700C>TCA383036473TBCEL-TECTA,TECTAc.5774C>T (p.Thr1925Ile)
c.5759C>T (p.Thr1920Ile)
c.3066C>T
n.2154C>T
c.6716C>T (p.Thr2239Ile)
11g.121168701C>ACA477383536TBCEL-TECTA,TECTAc.5775C>A (p.Thr1925=)
c.5760C>A (p.Thr1920=)
c.3067C>A
n.2155C>A
c.6717C>A (p.Thr2239=)
11g.121168701C=CA2004752296TBCEL-TECTA,TECTAc.5775C= (p.Thr1925=)
c.5760C= (p.Thr1920=)
c.3067C=
n.2155C=
c.6717C= (p.Thr2239=)
11g.121168701C>GCA477383537TBCEL-TECTA,TECTAc.5775C>G (p.Thr1925=)
c.5760C>G (p.Thr1920=)
c.3067C>G
n.2155C>G
c.6717C>G (p.Thr2239=)
11g.121168701C>TCA477383538TBCEL-TECTA,TECTAc.5775C>T (p.Thr1925=)
c.5760C>T (p.Thr1920=)
c.3067C>T
n.2155C>T
c.6717C>T (p.Thr2239=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168702C>ACA383036475TBCEL-TECTA,TECTAc.5776C>A (p.Gln1926Lys)
c.5761C>A (p.Gln1921Lys)
c.3068C>A
n.2156C>A
c.6718C>A (p.Gln2240Lys)
11g.121168702C>GCA383036477TBCEL-TECTA,TECTAc.5776C>G (p.Gln1926Glu)
c.5761C>G (p.Gln1921Glu)
c.3068C>G
n.2156C>G
c.6718C>G (p.Gln2240Glu)
11g.121168702C>TCA383036478TBCEL-TECTA,TECTAc.5776C>T (p.Gln1926Ter)
c.5761C>T (p.Gln1921Ter)
c.3068C>T
n.2156C>T
c.6718C>T (p.Gln2240Ter)
11g.121168703A=CA2004752299TBCEL-TECTA,TECTAc.5777A= (p.Gln1926=)
c.5762A= (p.Gln1921=)
c.3069A=
n.2157A=
c.6719A= (p.Gln2240=)
11g.121168703A>CCA383036480TBCEL-TECTA,TECTAc.5777A>C (p.Gln1926Pro)
c.5762A>C (p.Gln1921Pro)
c.3069A>C
n.2157A>C
c.6719A>C (p.Gln2240Pro)
11g.121168703A>GCA383036481TBCEL-TECTA,TECTAc.5777A>G (p.Gln1926Arg)
c.5762A>G (p.Gln1921Arg)
c.3069A>G
n.2157A>G
c.6719A>G (p.Gln2240Arg)
11g.121168703A>TCA383036483TBCEL-TECTA,TECTAc.5777A>T (p.Gln1926Leu)
c.5762A>T (p.Gln1921Leu)
c.3069A>T
n.2157A>T
c.6719A>T (p.Gln2240Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.121168704A>CCA383036485TBCEL-TECTA,TECTAc.5778A>C (p.Gln1926His)
c.5763A>C (p.Gln1921His)
c.3070A>C
n.2158A>C
c.6720A>C (p.Gln2240His)
11g.121168704A>GCA477383540TBCEL-TECTA,TECTAc.5778A>G (p.Gln1926=)
c.5763A>G (p.Gln1921=)
c.3070A>G
n.2158A>G
c.6720A>G (p.Gln2240=)
 gnomAD v4
11g.121168704A>TCA383036486TBCEL-TECTA,TECTAc.5778A>T (p.Gln1926His)
c.5763A>T (p.Gln1921His)
c.3070A>T
n.2158A>T
c.6720A>T (p.Gln2240His)
 gnomAD v4
11g.121168705G>ACA383036489TBCEL-TECTA,TECTAc.5779G>A (p.Glu1927Lys)
c.5764G>A (p.Glu1922Lys)
c.3071G>A
n.2159G>A
c.6721G>A (p.Glu2241Lys)
 gnomAD v4
11g.121168705G>CCA383036490TBCEL-TECTA,TECTAc.5779G>C (p.Glu1927Gln)
c.5764G>C (p.Glu1922Gln)
c.3071G>C
n.2159G>C
c.6721G>C (p.Glu2241Gln)
11g.121168705G>TCA383036492TBCEL-TECTA,TECTAc.5779G>T (p.Glu1927Ter)
c.5764G>T (p.Glu1922Ter)
c.3071G>T
n.2159G>T
c.6721G>T (p.Glu2241Ter)
11g.121168706A>CCA383036495TBCEL-TECTA,TECTAc.5780A>C (p.Glu1927Ala)
c.5765A>C (p.Glu1922Ala)
c.3072A>C
n.2160A>C
c.6722A>C (p.Glu2241Ala)
11g.121168706A>GCA383036497TBCEL-TECTA,TECTAc.5780A>G (p.Glu1927Gly)
c.5765A>G (p.Glu1922Gly)
c.3072A>G
n.2160A>G
c.6722A>G (p.Glu2241Gly)
11g.121168706A>TCA383036499TBCEL-TECTA,TECTAc.5780A>T (p.Glu1927Val)
c.5765A>T (p.Glu1922Val)
c.3072A>T
n.2160A>T
c.6722A>T (p.Glu2241Val)
11g.121168707A>CCA383036501TBCEL-TECTA,TECTAc.5781A>C (p.Glu1927Asp)
c.5766A>C (p.Glu1922Asp)
c.3073A>C
n.2161A>C
c.6723A>C (p.Glu2241Asp)
11g.121168707A>GCA477383542TBCEL-TECTA,TECTAc.5781A>G (p.Glu1927=)
c.5766A>G (p.Glu1922=)
c.3073A>G
n.2161A>G
c.6723A>G (p.Glu2241=)
11g.121168707A>TCA383036502TBCEL-TECTA,TECTAc.5781A>T (p.Glu1927Asp)
c.5766A>T (p.Glu1922Asp)
c.3073A>T
n.2161A>T
c.6723A>T (p.Glu2241Asp)
11g.121168708G>ACA383036505TBCEL-TECTA,TECTAc.5782G>A (p.Gly1928Ser)
c.5767G>A (p.Gly1923Ser)
c.3074G>A
n.2162G>A
c.6724G>A (p.Gly2242Ser)
11g.121168708G>CCA383036506TBCEL-TECTA,TECTAc.5782G>C (p.Gly1928Arg)
c.5767G>C (p.Gly1923Arg)
c.3074G>C
n.2162G>C
c.6724G>C (p.Gly2242Arg)
11g.121168708G>TCA383036508TBCEL-TECTA,TECTAc.5782G>T (p.Gly1928Cys)
c.5767G>T (p.Gly1923Cys)
c.3074G>T
n.2162G>T
c.6724G>T (p.Gly2242Cys)
11g.121168709G>ACA383036512TBCEL-TECTA,TECTAc.5783G>A (p.Gly1928Asp)
c.5768G>A (p.Gly1923Asp)
c.3075G>A
n.2163G>A
c.6725G>A (p.Gly2242Asp)
 ClinVar
11g.121168709G>CCA383036511TBCEL-TECTA,TECTAc.5783G>C (p.Gly1928Ala)
c.5768G>C (p.Gly1923Ala)
c.3075G>C
n.2163G>C
c.6725G>C (p.Gly2242Ala)
11g.121168709G>TCA383036510TBCEL-TECTA,TECTAc.5783G>T (p.Gly1928Val)
c.5768G>T (p.Gly1923Val)
c.3075G>T
n.2163G>T
c.6725G>T (p.Gly2242Val)
 gnomAD v4
11g.121168710C>ACA477383545TBCEL-TECTA,TECTAc.5784C>A (p.Gly1928=)
c.5769C>A (p.Gly1923=)
c.3076C>A
n.2164C>A
c.6726C>A (p.Gly2242=)
11g.121168710C>GCA477383544TBCEL-TECTA,TECTAc.5784C>G (p.Gly1928=)
c.5769C>G (p.Gly1923=)
c.3076C>G
n.2164C>G
c.6726C>G (p.Gly2242=)
11g.121168710C>TCA477383546TBCEL-TECTA,TECTAc.5784C>T (p.Gly1928=)
c.5769C>T (p.Gly1923=)
c.3076C>T
n.2164C>T
c.6726C>T (p.Gly2242=)
 gnomAD v4
11g.121168711A>CCA383036515TBCEL-TECTA,TECTAc.5785A>C (p.Ser1929Arg)
c.5770A>C (p.Ser1924Arg)
c.3077A>C
n.2165A>C
c.6727A>C (p.Ser2243Arg)
11g.121168711A>GCA383036516TBCEL-TECTA,TECTAc.5785A>G (p.Ser1929Gly)
c.5770A>G (p.Ser1924Gly)
c.3077A>G
n.2165A>G
c.6727A>G (p.Ser2243Gly)
11g.121168711A>TCA383036518TBCEL-TECTA,TECTAc.5785A>T (p.Ser1929Cys)
c.5770A>T (p.Ser1924Cys)
c.3077A>T
n.2165A>T
c.6727A>T (p.Ser2243Cys)
11g.121168712G>ACA383036520TBCEL-TECTA,TECTAc.5786G>A (p.Ser1929Asn)
c.5771G>A (p.Ser1924Asn)
c.3078G>A
n.2166G>A
c.6728G>A (p.Ser2243Asn)
11g.121168712G>CCA383036522TBCEL-TECTA,TECTAc.5786G>C (p.Ser1929Thr)
c.5771G>C (p.Ser1924Thr)
c.3078G>C
n.2166G>C
c.6728G>C (p.Ser2243Thr)
11g.121168712G>TCA383036524TBCEL-TECTA,TECTAc.5786G>T (p.Ser1929Ile)
c.5771G>T (p.Ser1924Ile)
c.3078G>T
n.2166G>T
c.6728G>T (p.Ser2243Ile)
11g.121168713C>ACA383036525TBCEL-TECTA,TECTAc.5787C>A (p.Ser1929Arg)
c.5772C>A (p.Ser1924Arg)
c.3079C>A
n.2167C>A
c.6729C>A (p.Ser2243Arg)
11g.121168713C>GCA383036526TBCEL-TECTA,TECTAc.5787C>G (p.Ser1929Arg)
c.5772C>G (p.Ser1924Arg)
c.3079C>G
n.2167C>G
c.6729C>G (p.Ser2243Arg)
11g.121168713C>TCA477383551TBCEL-TECTA,TECTAc.5787C>T (p.Ser1929=)
c.5772C>T (p.Ser1924=)
c.3079C>T
n.2167C>T
c.6729C>T (p.Ser2243=)
11g.121168714T>ACA383036530TBCEL-TECTA,TECTAc.5788T>A (p.Phe1930Ile)
c.5773T>A (p.Phe1925Ile)
c.3080T>A
n.2168T>A
c.6730T>A (p.Phe2244Ile)
11g.121168714T>CCA383036531TBCEL-TECTA,TECTAc.5788T>C (p.Phe1930Leu)
c.5773T>C (p.Phe1925Leu)
c.3080T>C
n.2168T>C
c.6730T>C (p.Phe2244Leu)
11g.121168714T>GCA383036533TBCEL-TECTA,TECTAc.5788T>G (p.Phe1930Val)
c.5773T>G (p.Phe1925Val)
c.3080T>G
n.2168T>G
c.6730T>G (p.Phe2244Val)
11g.121168715T>ACA383036536TBCEL-TECTA,TECTAc.5789T>A (p.Phe1930Tyr)
c.5774T>A (p.Phe1925Tyr)
c.3081T>A
n.2169T>A
c.6731T>A (p.Phe2244Tyr)
11g.121168715T>CCA383036537TBCEL-TECTA,TECTAc.5789T>C (p.Phe1930Ser)
c.5774T>C (p.Phe1925Ser)
c.3081T>C
n.2169T>C
c.6731T>C (p.Phe2244Ser)
11g.121168715T>GCA383036538TBCEL-TECTA,TECTAc.5789T>G (p.Phe1930Cys)
c.5774T>G (p.Phe1925Cys)
c.3081T>G
n.2169T>G
c.6731T>G (p.Phe2244Cys)
11g.121168716C>ACA383036539TBCEL-TECTA,TECTAc.5790C>A (p.Phe1930Leu)
c.5775C>A (p.Phe1925Leu)
c.3082C>A
n.2170C>A
c.6732C>A (p.Phe2244Leu)
11g.121168716C>GCA383036541TBCEL-TECTA,TECTAc.5790C>G (p.Phe1930Leu)
c.5775C>G (p.Phe1925Leu)
c.3082C>G
n.2170C>G
c.6732C>G (p.Phe2244Leu)
11g.121168716C>TCA477383555TBCEL-TECTA,TECTAc.5790C>T (p.Phe1930=)
c.5775C>T (p.Phe1925=)
c.3082C>T
n.2170C>T
c.6732C>T (p.Phe2244=)
 gnomAD v4
11g.121168717A=CA2004752302TBCEL-TECTA,TECTAc.5791A= (p.Ile1931=)
c.5776A= (p.Ile1926=)
c.3083A=
n.2171A=
c.6733A= (p.Ile2245=)
11g.121168717A>CCA383036546TBCEL-TECTA,TECTAc.5791A>C (p.Ile1931Leu)
c.5776A>C (p.Ile1926Leu)
c.3083A>C
n.2171A>C
c.6733A>C (p.Ile2245Leu)
11g.121168717A>GCA229853223TBCEL-TECTA,TECTAc.5791A>G (p.Ile1931Val)
c.5776A>G (p.Ile1926Val)
c.3083A>G
n.2171A>G
c.6733A>G (p.Ile2245Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168717A>TCA383036549TBCEL-TECTA,TECTAc.5791A>T (p.Ile1931Phe)
c.5776A>T (p.Ile1926Phe)
c.3083A>T
n.2171A>T
c.6733A>T (p.Ile2245Phe)
11g.121168718T>ACA383036551TBCEL-TECTA,TECTAc.5792T>A (p.Ile1931Asn)
c.5777T>A (p.Ile1926Asn)
c.3084T>A
n.2172T>A
c.6734T>A (p.Ile2245Asn)
11g.121168718T>CCA383036553TBCEL-TECTA,TECTAc.5792T>C (p.Ile1931Thr)
c.5777T>C (p.Ile1926Thr)
c.3084T>C
n.2172T>C
c.6734T>C (p.Ile2245Thr)
11g.121168718T>GCA383036554TBCEL-TECTA,TECTAc.5792T>G (p.Ile1931Ser)
c.5777T>G (p.Ile1926Ser)
c.3084T>G
n.2172T>G
c.6734T>G (p.Ile2245Ser)
11g.121168719C>ACA477383557TBCEL-TECTA,TECTAc.5793C>A (p.Ile1931=)
c.5778C>A (p.Ile1926=)
c.3085C>A
n.2173C>A
c.6735C>A (p.Ile2245=)
11g.121168719C>GCA383036557TBCEL-TECTA,TECTAc.5793C>G (p.Ile1931Met)
c.5778C>G (p.Ile1926Met)
c.3085C>G
n.2173C>G
c.6735C>G (p.Ile2245Met)
11g.121168719C>TCA477383558TBCEL-TECTA,TECTAc.5793C>T (p.Ile1931=)
c.5778C>T (p.Ile1926=)
c.3085C>T
n.2173C>T
c.6735C>T (p.Ile2245=)
11g.121168720A=CA2004752305TBCEL-TECTA,TECTAc.5794A= (p.Thr1932=)
c.5779A= (p.Thr1927=)
c.3086A=
n.2174A=
c.6736A= (p.Thr2246=)
11g.121168720A>CCA383036559TBCEL-TECTA,TECTAc.5794A>C (p.Thr1932Pro)
c.5779A>C (p.Thr1927Pro)
c.3086A>C
n.2174A>C
c.6736A>C (p.Thr2246Pro)
11g.121168720A>GCA383036561TBCEL-TECTA,TECTAc.5794A>G (p.Thr1932Ala)
c.5779A>G (p.Thr1927Ala)
c.3086A>G
n.2174A>G
c.6736A>G (p.Thr2246Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.121168720A>TCA383036564TBCEL-TECTA,TECTAc.5794A>T (p.Thr1932Ser)
c.5779A>T (p.Thr1927Ser)
c.3086A>T
n.2174A>T
c.6736A>T (p.Thr2246Ser)
11g.121168721C>ACA383036566TBCEL-TECTA,TECTAc.5795C>A (p.Thr1932Asn)
c.5780C>A (p.Thr1927Asn)
c.3087C>A
n.2175C>A
c.6737C>A (p.Thr2246Asn)
11g.121168721C>GCA383036568TBCEL-TECTA,TECTAc.5795C>G (p.Thr1932Ser)
c.5780C>G (p.Thr1927Ser)
c.3087C>G
n.2175C>G
c.6737C>G (p.Thr2246Ser)
11g.121168721C>TCA383036570TBCEL-TECTA,TECTAc.5795C>T (p.Thr1932Ile)
c.5780C>T (p.Thr1927Ile)
c.3087C>T
n.2175C>T
c.6737C>T (p.Thr2246Ile)
 gnomAD v4
11g.121168722C>ACA477383560TBCEL-TECTA,TECTAc.5796C>A (p.Thr1932=)
c.5781C>A (p.Thr1927=)
c.3088C>A
n.2176C>A
c.6738C>A (p.Thr2246=)
11g.121168722C>GCA477383561TBCEL-TECTA,TECTAc.5796C>G (p.Thr1932=)
c.5781C>G (p.Thr1927=)
c.3088C>G
n.2176C>G
c.6738C>G (p.Thr2246=)
11g.121168722C>TCA477383562TBCEL-TECTA,TECTAc.5796C>T (p.Thr1932=)
c.5781C>T (p.Thr1927=)
c.3088C>T
n.2176C>T
c.6738C>T (p.Thr2246=)
11g.121168723A>CCA383036574TBCEL-TECTA,TECTAc.5797A>C (p.Lys1933Gln)
c.5782A>C (p.Lys1928Gln)
c.3089A>C
n.2177A>C
c.6739A>C (p.Lys2247Gln)
11g.121168723A>GCA383036576TBCEL-TECTA,TECTAc.5797A>G (p.Lys1933Glu)
c.5782A>G (p.Lys1928Glu)
c.3089A>G
n.2177A>G
c.6739A>G (p.Lys2247Glu)
11g.121168723A>TCA383036572TBCEL-TECTA,TECTAc.5797A>T (p.Lys1933Ter)
c.5782A>T (p.Lys1928Ter)
c.3089A>T
n.2177A>T
c.6739A>T (p.Lys2247Ter)
11g.121168724A=CA2004752308TBCEL-TECTA,TECTAc.5798A= (p.Lys1933=)
c.5783A= (p.Lys1928=)
c.3090A=
n.2178A=
c.6740A= (p.Lys2247=)
11g.121168724A>CCA383036590TBCEL-TECTA,TECTAc.5798A>C (p.Lys1933Thr)
c.5783A>C (p.Lys1928Thr)
c.3090A>C
n.2178A>C
c.6740A>C (p.Lys2247Thr)
11g.121168724A>GCA229853226TBCEL-TECTA,TECTAc.5798A>G (p.Lys1933Arg)
c.5783A>G (p.Lys1928Arg)
c.3090A>G
n.2178A>G
c.6740A>G (p.Lys2247Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168724A>TCA383036588TBCEL-TECTA,TECTAc.5798A>T (p.Lys1933Met)
c.5783A>T (p.Lys1928Met)
c.3090A>T
n.2178A>T
c.6740A>T (p.Lys2247Met)
11g.121168725G>ACA477383565TBCEL-TECTA,TECTAc.5799G>A (p.Lys1933=)
c.5784G>A (p.Lys1928=)
c.3091G>A
n.2179G>A
c.6741G>A (p.Lys2247=)
11g.121168725G>CCA383036592TBCEL-TECTA,TECTAc.5799G>C (p.Lys1933Asn)
c.5784G>C (p.Lys1928Asn)
c.3091G>C
n.2179G>C
c.6741G>C (p.Lys2247Asn)
 gnomAD v4
11g.121168725G=CA2004752313TBCEL-TECTA,TECTAc.5799G= (p.Lys1933=)
c.5784G= (p.Lys1928=)
c.3091G=
n.2179G=
c.6741G= (p.Lys2247=)
11g.121168725G>TCA383036594TBCEL-TECTA,TECTAc.5799G>T (p.Lys1933Asn)
c.5784G>T (p.Lys1928Asn)
c.3091G>T
n.2179G>T
c.6741G>T (p.Lys2247Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.121168726A>CCA383036596TBCEL-TECTA,TECTAc.5800A>C (p.Met1934Leu)
c.5785A>C (p.Met1929Leu)
c.3092A>C
n.2180A>C
c.6742A>C (p.Met2248Leu)
11g.121168726A>GCA383036598TBCEL-TECTA,TECTAc.5800A>G (p.Met1934Val)
c.5785A>G (p.Met1929Val)
c.3092A>G
n.2180A>G
c.6742A>G (p.Met2248Val)
11g.121168726A>TCA383036600TBCEL-TECTA,TECTAc.5800A>T (p.Met1934Leu)
c.5785A>T (p.Met1929Leu)
c.3092A>T
n.2180A>T
c.6742A>T (p.Met2248Leu)
 gnomAD v4
11g.121168727T>ACA383036602TBCEL-TECTA,TECTAc.5801T>A (p.Met1934Lys)
c.5786T>A (p.Met1929Lys)
c.3093T>A
n.2181T>A
c.6743T>A (p.Met2248Lys)
11g.121168727T>CCA383036604TBCEL-TECTA,TECTAc.5801T>C (p.Met1934Thr)
c.5786T>C (p.Met1929Thr)
c.3093T>C
n.2181T>C
c.6743T>C (p.Met2248Thr)
11g.121168727T>GCA383036606TBCEL-TECTA,TECTAc.5801T>G (p.Met1934Arg)
c.5786T>G (p.Met1929Arg)
c.3093T>G
n.2181T>G
c.6743T>G (p.Met2248Arg)
11g.121168728G>ACA383036608TBCEL-TECTA,TECTAc.5802G>A (p.Met1934Ile)
c.5787G>A (p.Met1929Ile)
c.3094G>A
n.2182G>A
c.6744G>A (p.Met2248Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.121168728G>CCA383036610TBCEL-TECTA,TECTAc.5802G>C (p.Met1934Ile)
c.5787G>C (p.Met1929Ile)
c.3094G>C
n.2182G>C
c.6744G>C (p.Met2248Ile)
11g.121168728G=CA2004752315TBCEL-TECTA,TECTAc.5802G= (p.Met1934=)
c.5787G= (p.Met1929=)
c.3094G=
n.2182G=
c.6744G= (p.Met2248=)
11g.121168728G>TCA383036611TBCEL-TECTA,TECTAc.5802G>T (p.Met1934Ile)
c.5787G>T (p.Met1929Ile)
c.3094G>T
n.2182G>T
c.6744G>T (p.Met2248Ile)
 gnomAD v4
11g.121168729G>ACA383036618TBCEL-TECTA,TECTAc.5803G>A (p.Ala1935Thr)
c.5788G>A (p.Ala1930Thr)
c.3095G>A
n.2183G>A
c.6745G>A (p.Ala2249Thr)
11g.121168729G>CCA383036616TBCEL-TECTA,TECTAc.5803G>C (p.Ala1935Pro)
c.5788G>C (p.Ala1930Pro)
c.3095G>C
n.2183G>C
c.6745G>C (p.Ala2249Pro)
11g.121168729G=CA2004752322TBCEL-TECTA,TECTAc.5803G= (p.Ala1935=)
c.5788G= (p.Ala1930=)
c.3095G=
n.2183G=
c.6745G= (p.Ala2249=)
11g.121168729G>TCA383036614TBCEL-TECTA,TECTAc.5803G>T (p.Ala1935Ser)
c.5788G>T (p.Ala1930Ser)
c.3095G>T
n.2183G>T
c.6745G>T (p.Ala2249Ser)
 dbSNP
11g.121168729_121168731delinsGCTCA2004752318TBCEL-TECTA,TECTAc.5803_5805delinsGCT (p.Ala1935=)
c.5788_5790delinsGCT (p.Ala1930=)
c.3095_3097delinsGCT
n.2183_2185delinsGCT
c.6745_6747delinsGCT (p.Ala2249=)
11g.121168730C>ACA383036620TBCEL-TECTA,TECTAc.5804C>A (p.Ala1935Asp)
c.5789C>A (p.Ala1930Asp)
c.3096C>A
n.2184C>A
c.6746C>A (p.Ala2249Asp)
11g.121168730C>GCA383036622TBCEL-TECTA,TECTAc.5804C>G (p.Ala1935Gly)
c.5789C>G (p.Ala1930Gly)
c.3096C>G
n.2184C>G
c.6746C>G (p.Ala2249Gly)
11g.121168730C>TCA383036624TBCEL-TECTA,TECTAc.5804C>T (p.Ala1935Val)
c.5789C>T (p.Ala1930Val)
c.3096C>T
n.2184C>T
c.6746C>T (p.Ala2249Val)
11g.121168734_121168735delCA672609195TBCEL-TECTA,TECTAc.5808_5809del (p.Tyr1937GlnfsTer13)
c.5793_5794del (p.Tyr1932GlnfsTer13)
c.3100_3101del
n.2188_2189del
c.6750_6751del (p.Tyr2251GlnfsTer13)
 dbSNP
11g.121168731T>ACA477383569TBCEL-TECTA,TECTAc.5805T>A (p.Ala1935=)
c.5790T>A (p.Ala1930=)
c.3097T>A
n.2185T>A
c.6747T>A (p.Ala2249=)
11g.121168731T>CCA477383570TBCEL-TECTA,TECTAc.5805T>C (p.Ala1935=)
c.5790T>C (p.Ala1930=)
c.3097T>C
n.2185T>C
c.6747T>C (p.Ala2249=)
11g.121168731T>GCA477383571TBCEL-TECTA,TECTAc.5805T>G (p.Ala1935=)
c.5790T>G (p.Ala1930=)
c.3097T>G
n.2185T>G
c.6747T>G (p.Ala2249=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168731T=CA2004752330TBCEL-TECTA,TECTAc.5805T= (p.Ala1935=)
c.5790T= (p.Ala1930=)
c.3097T=
n.2185T=
c.6747T= (p.Ala2249=)
11g.121168732C>ACA383036626TBCEL-TECTA,TECTAc.5806C>A (p.Leu1936Ile)
c.5791C>A (p.Leu1931Ile)
c.3098C>A
n.2186C>A
c.6748C>A (p.Leu2250Ile)
11g.121168732C>GCA383036628TBCEL-TECTA,TECTAc.5806C>G (p.Leu1936Val)
c.5791C>G (p.Leu1931Val)
c.3098C>G
n.2186C>G
c.6748C>G (p.Leu2250Val)
11g.121168732C>TCA383036630TBCEL-TECTA,TECTAc.5806C>T (p.Leu1936Phe)
c.5791C>T (p.Leu1931Phe)
c.3098C>T
n.2186C>T
c.6748C>T (p.Leu2250Phe)
 gnomAD v4
11g.121168733T>ACA383036632TBCEL-TECTA,TECTAc.5807T>A (p.Leu1936His)
c.5792T>A (p.Leu1931His)
c.3099T>A
n.2187T>A
c.6749T>A (p.Leu2250His)
11g.121168733T>CCA383036634TBCEL-TECTA,TECTAc.5807T>C (p.Leu1936Pro)
c.5792T>C (p.Leu1931Pro)
c.3099T>C
n.2187T>C
c.6749T>C (p.Leu2250Pro)
11g.121168733T>GCA383036636TBCEL-TECTA,TECTAc.5807T>G (p.Leu1936Arg)
c.5792T>G (p.Leu1931Arg)
c.3099T>G
n.2187T>G
c.6749T>G (p.Leu2250Arg)
11g.121168734C>ACA477383575TBCEL-TECTA,TECTAc.5808C>A (p.Leu1936=)
c.5793C>A (p.Leu1931=)
c.3100C>A
n.2188C>A
c.6750C>A (p.Leu2250=)
11g.121168734C=CA2004752338TBCEL-TECTA,TECTAc.5808C= (p.Leu1936=)
c.5793C= (p.Leu1931=)
c.3100C=
n.2188C=
c.6750C= (p.Leu2250=)
11g.121168734C>GCA6327825TBCEL-TECTA,TECTAc.5808C>G (p.Leu1936=)
c.5793C>G (p.Leu1931=)
c.3100C>G
n.2188C>G
c.6750C>G (p.Leu2250=)
 dbSNP ExAC gnomAD v2
11g.121168734C>TCA6327824TBCEL-TECTA,TECTAc.5808C>T (p.Leu1936=)
c.5793C>T (p.Leu1931=)
c.3100C>T
n.2188C>T
c.6750C>T (p.Leu2250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168741_121168755delCA645572018TBCEL-TECTA,TECTAc.5815_5829del (p.Asn1939_Lys1943del)
c.5800_5814del (p.Asn1934_Lys1938del)
c.3107_3121del
n.2195_2209del
c.6757_6771del (p.Asn2253_Lys2257del)
 COSMIC
11g.121168735T>ACA383036640TBCEL-TECTA,TECTAc.5809T>A (p.Tyr1937Asn)
c.5794T>A (p.Tyr1932Asn)
c.3101T>A
n.2189T>A
c.6751T>A (p.Tyr2251Asn)
11g.121168735T>CCA383036646TBCEL-TECTA,TECTAc.5809T>C (p.Tyr1937His)
c.5794T>C (p.Tyr1932His)
c.3101T>C
n.2189T>C
c.6751T>C (p.Tyr2251His)
11g.121168735T>GCA383036647TBCEL-TECTA,TECTAc.5809T>G (p.Tyr1937Asp)
c.5794T>G (p.Tyr1932Asp)
c.3101T>G
n.2189T>G
c.6751T>G (p.Tyr2251Asp)
11g.121168736A=CA2004752350TBCEL-TECTA,TECTAc.5810A= (p.Tyr1937=)
c.5795A= (p.Tyr1932=)
c.3102A=
n.2190A=
c.6752A= (p.Tyr2251=)
11g.121168736A>CCA383036651TBCEL-TECTA,TECTAc.5810A>C (p.Tyr1937Ser)
c.5795A>C (p.Tyr1932Ser)
c.3102A>C
n.2190A>C
c.6752A>C (p.Tyr2251Ser)
11g.121168736A>GCA383036650TBCEL-TECTA,TECTAc.5810A>G (p.Tyr1937Cys)
c.5795A>G (p.Tyr1932Cys)
c.3102A>G
n.2190A>G
c.6752A>G (p.Tyr2251Cys)
11g.121168736A>TCA383036648TBCEL-TECTA,TECTAc.5810A>T (p.Tyr1937Phe)
c.5795A>T (p.Tyr1932Phe)
c.3102A>T
n.2190A>T
c.6752A>T (p.Tyr2251Phe)
 dbSNP
11g.121168737C>ACA383036652TBCEL-TECTA,TECTAc.5811C>A (p.Tyr1937Ter)
c.5796C>A (p.Tyr1932Ter)
c.3103C>A
n.2191C>A
c.6753C>A (p.Tyr2251Ter)
11g.121168737C>GCA383036653TBCEL-TECTA,TECTAc.5811C>G (p.Tyr1937Ter)
c.5796C>G (p.Tyr1932Ter)
c.3103C>G
n.2191C>G
c.6753C>G (p.Tyr2251Ter)
11g.121168737C>TCA477383576TBCEL-TECTA,TECTAc.5811C>T (p.Tyr1937=)
c.5796C>T (p.Tyr1932=)
c.3103C>T
n.2191C>T
c.6753C>T (p.Tyr2251=)
11g.121168738A>CCA383036655TBCEL-TECTA,TECTAc.5812A>C (p.Lys1938Gln)
c.5797A>C (p.Lys1933Gln)
c.3104A>C
n.2192A>C
c.6754A>C (p.Lys2252Gln)
11g.121168738A>GCA383036656TBCEL-TECTA,TECTAc.5812A>G (p.Lys1938Glu)
c.5797A>G (p.Lys1933Glu)
c.3104A>G
n.2192A>G
c.6754A>G (p.Lys2252Glu)
11g.121168738A>TCA383036658TBCEL-TECTA,TECTAc.5812A>T (p.Lys1938Ter)
c.5797A>T (p.Lys1933Ter)
c.3104A>T
n.2192A>T
c.6754A>T (p.Lys2252Ter)
11g.121168742dupCA2575008647TBCEL-TECTA,TECTAc.5816dup (p.Asn1939LysfsTer12)
c.5801dup (p.Asn1934LysfsTer12)
c.3108dup
n.2196dup
c.6758dup (p.Asn2253LysfsTer12)
11g.121168739A=CA2004752357TBCEL-TECTA,TECTAc.5813A= (p.Lys1938=)
c.5798A= (p.Lys1933=)
c.3105A=
n.2193A=
c.6755A= (p.Lys2252=)
11g.121168739A>CCA383036660TBCEL-TECTA,TECTAc.5813A>C (p.Lys1938Thr)
c.5798A>C (p.Lys1933Thr)
c.3105A>C
n.2193A>C
c.6755A>C (p.Lys2252Thr)
11g.121168739A>GCA6327826TBCEL-TECTA,TECTAc.5813A>G (p.Lys1938Arg)
c.5798A>G (p.Lys1933Arg)
c.3105A>G
n.2193A>G
c.6755A>G (p.Lys2252Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121168739A>TCA383036663TBCEL-TECTA,TECTAc.5813A>T (p.Lys1938Ile)
c.5798A>T (p.Lys1933Ile)
c.3105A>T
n.2193A>T
c.6755A>T (p.Lys2252Ile)
11g.121168740A>CCA383036665TBCEL-TECTA,TECTAc.5814A>C (p.Lys1938Asn)
c.5799A>C (p.Lys1933Asn)
c.3106A>C
n.2194A>C
c.6756A>C (p.Lys2252Asn)
11g.121168740A>GCA477383577TBCEL-TECTA,TECTAc.5814A>G (p.Lys1938=)
c.5799A>G (p.Lys1933=)
c.3106A>G
n.2194A>G
c.6756A>G (p.Lys2252=)
11g.121168740A>TCA383036667TBCEL-TECTA,TECTAc.5814A>T (p.Lys1938Asn)
c.5799A>T (p.Lys1933Asn)
c.3106A>T
n.2194A>T
c.6756A>T (p.Lys2252Asn)
11g.121168741A>CCA383036669TBCEL-TECTA,TECTAc.5815A>C (p.Asn1939His)
c.5800A>C (p.Asn1934His)
c.3107A>C
n.2195A>C
c.6757A>C (p.Asn2253His)
 gnomAD v4
11g.121168741A>GCA383036671TBCEL-TECTA,TECTAc.5815A>G (p.Asn1939Asp)
c.5800A>G (p.Asn1934Asp)
c.3107A>G
n.2195A>G
c.6757A>G (p.Asn2253Asp)
11g.121168741A>TCA383036673TBCEL-TECTA,TECTAc.5815A>T (p.Asn1939Tyr)
c.5800A>T (p.Asn1934Tyr)
c.3107A>T
n.2195A>T
c.6757A>T (p.Asn2253Tyr)
11g.121168742A>CCA383036679TBCEL-TECTA,TECTAc.5816A>C (p.Asn1939Thr)
c.5801A>C (p.Asn1934Thr)
c.3108A>C
n.2196A>C
c.6758A>C (p.Asn2253Thr)
 gnomAD v4
11g.121168742A>GCA383036676TBCEL-TECTA,TECTAc.5816A>G (p.Asn1939Ser)
c.5801A>G (p.Asn1934Ser)
c.3108A>G
n.2196A>G
c.6758A>G (p.Asn2253Ser)
11g.121168742A>TCA383036677TBCEL-TECTA,TECTAc.5816A>T (p.Asn1939Ile)
c.5801A>T (p.Asn1934Ile)
c.3108A>T
n.2196A>T
c.6758A>T (p.Asn2253Ile)
11g.121168743C>ACA383036682TBCEL-TECTA,TECTAc.5817C>A (p.Asn1939Lys)
c.5802C>A (p.Asn1934Lys)
c.3109C>A
n.2197C>A
c.6759C>A (p.Asn2253Lys)
11g.121168743C=CA2004752364TBCEL-TECTA,TECTAc.5817C= (p.Asn1939=)
c.5802C= (p.Asn1934=)
c.3109C=
n.2197C=
c.6759C= (p.Asn2253=)
11g.121168743C>GCA383036683TBCEL-TECTA,TECTAc.5817C>G (p.Asn1939Lys)
c.5802C>G (p.Asn1934Lys)
c.3109C>G
n.2197C>G
c.6759C>G (p.Asn2253Lys)
11g.121168743C>TCA6327827TBCEL-TECTA,TECTAc.5817C>T (p.Asn1939=)
c.5802C>T (p.Asn1934=)
c.3109C>T
n.2197C>T
c.6759C>T (p.Asn2253=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168744G>ACA6327828TBCEL-TECTA,TECTAc.5818G>A (p.Ala1940Thr)
c.5803G>A (p.Ala1935Thr)
c.3110G>A
n.2198G>A
c.6760G>A (p.Ala2254Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168744G>CCA383036686TBCEL-TECTA,TECTAc.5818G>C (p.Ala1940Pro)
c.5803G>C (p.Ala1935Pro)
c.3110G>C
n.2198G>C
c.6760G>C (p.Ala2254Pro)
11g.121168744G=CA2004752371TBCEL-TECTA,TECTAc.5818G= (p.Ala1940=)
c.5803G= (p.Ala1935=)
c.3110G=
n.2198G=
c.6760G= (p.Ala2254=)
11g.121168744G>TCA383036688TBCEL-TECTA,TECTAc.5818G>T (p.Ala1940Ser)
c.5803G>T (p.Ala1935Ser)
c.3110G>T
n.2198G>T
c.6760G>T (p.Ala2254Ser)
11g.121168745C>ACA383036690TBCEL-TECTA,TECTAc.5819C>A (p.Ala1940Asp)
c.5804C>A (p.Ala1935Asp)
c.3111C>A
n.2199C>A
c.6761C>A (p.Ala2254Asp)
11g.121168745C>GCA383036692TBCEL-TECTA,TECTAc.5819C>G (p.Ala1940Gly)
c.5804C>G (p.Ala1935Gly)
c.3111C>G
n.2199C>G
c.6761C>G (p.Ala2254Gly)
11g.121168745C>TCA383036693TBCEL-TECTA,TECTAc.5819C>T (p.Ala1940Val)
c.5804C>T (p.Ala1935Val)
c.3111C>T
n.2199C>T
c.6761C>T (p.Ala2254Val)
 dbSNP
11g.121168746delCA2616489796TBCEL-TECTA,TECTAc.5820del (p.Ser1941ProfsTer11)
c.5805del (p.Ser1936ProfsTer11)
c.3112del
n.2200del
c.6762del (p.Ser2255ProfsTer11)
 gnomAD v4
11g.121168746C>ACA477383581TBCEL-TECTA,TECTAc.5820C>A (p.Ala1940=)
c.5805C>A (p.Ala1935=)
c.3112C>A
n.2200C>A
c.6762C>A (p.Ala2254=)
11g.121168746C>GCA477383580TBCEL-TECTA,TECTAc.5820C>G (p.Ala1940=)
c.5805C>G (p.Ala1935=)
c.3112C>G
n.2200C>G
c.6762C>G (p.Ala2254=)
11g.121168746C>TCA477383579TBCEL-TECTA,TECTAc.5820C>T (p.Ala1940=)
c.5805C>T (p.Ala1935=)
c.3112C>T
n.2200C>T
c.6762C>T (p.Ala2254=)
11g.121168747T>ACA383036694TBCEL-TECTA,TECTAc.5821T>A (p.Ser1941Thr)
c.5806T>A (p.Ser1936Thr)
c.3113T>A
n.2201T>A
c.6763T>A (p.Ser2255Thr)
11g.121168747T>CCA383036697TBCEL-TECTA,TECTAc.5821T>C (p.Ser1941Pro)
c.5806T>C (p.Ser1936Pro)
c.3113T>C
n.2201T>C
c.6763T>C (p.Ser2255Pro)
11g.121168747T>GCA383036699TBCEL-TECTA,TECTAc.5821T>G (p.Ser1941Ala)
c.5806T>G (p.Ser1936Ala)
c.3113T>G
n.2201T>G
c.6763T>G (p.Ser2255Ala)
11g.121168748C>ACA383036701TBCEL-TECTA,TECTAc.5822C>A (p.Ser1941Tyr)
c.5807C>A (p.Ser1936Tyr)
c.3114C>A
n.2202C>A
c.6764C>A (p.Ser2255Tyr)
11g.121168748C=CA2004752375TBCEL-TECTA,TECTAc.5822C= (p.Ser1941=)
c.5807C= (p.Ser1936=)
c.3114C=
n.2202C=
c.6764C= (p.Ser2255=)
11g.121168748C>GCA383036705TBCEL-TECTA,TECTAc.5822C>G (p.Ser1941Cys)
c.5807C>G (p.Ser1936Cys)
c.3114C>G
n.2202C>G
c.6764C>G (p.Ser2255Cys)
 ClinVar
11g.121168748C>TCA383036703TBCEL-TECTA,TECTAc.5822C>T (p.Ser1941Phe)
c.5807C>T (p.Ser1936Phe)
c.3114C>T
n.2202C>T
c.6764C>T (p.Ser2255Phe)
 dbSNP
11g.121168749C>ACA477383582TBCEL-TECTA,TECTAc.5823C>A (p.Ser1941=)
c.5808C>A (p.Ser1936=)
c.3115C>A
n.2203C>A
c.6765C>A (p.Ser2255=)
11g.121168749C=CA2004752383TBCEL-TECTA,TECTAc.5823C= (p.Ser1941=)
c.5808C= (p.Ser1936=)
c.3115C=
n.2203C=
c.6765C= (p.Ser2255=)
11g.121168749C>GCA477383583TBCEL-TECTA,TECTAc.5823C>G (p.Ser1941=)
c.5808C>G (p.Ser1936=)
c.3115C>G
n.2203C>G
c.6765C>G (p.Ser2255=)
11g.121168749C>TCA477383584TBCEL-TECTA,TECTAc.5823C>T (p.Ser1941=)
c.5808C>T (p.Ser1936=)
c.3115C>T
n.2203C>T
c.6765C>T (p.Ser2255=)
 dbSNP gnomAD v2
11g.121168750T>ACA383036708TBCEL-TECTA,TECTAc.5824T>A (p.Tyr1942Asn)
c.5809T>A (p.Tyr1937Asn)
c.3116T>A
n.2204T>A
c.6766T>A (p.Tyr2256Asn)
11g.121168750T>CCA383036711TBCEL-TECTA,TECTAc.5824T>C (p.Tyr1942His)
c.5809T>C (p.Tyr1937His)
c.3116T>C
n.2204T>C
c.6766T>C (p.Tyr2256His)
11g.121168750T>GCA383036710TBCEL-TECTA,TECTAc.5824T>G (p.Tyr1942Asp)
c.5809T>G (p.Tyr1937Asp)
c.3116T>G
n.2204T>G
c.6766T>G (p.Tyr2256Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.121168750T=CA2004752389TBCEL-TECTA,TECTAc.5824T= (p.Tyr1942=)
c.5809T= (p.Tyr1937=)
c.3116T=
n.2204T=
c.6766T= (p.Tyr2256=)
11g.121168751A=CA2004752392TBCEL-TECTA,TECTAc.5825A= (p.Tyr1942=)
c.5810A= (p.Tyr1937=)
c.3117A=
n.2205A=
c.6767A= (p.Tyr2256=)
11g.121168751A>CCA383036713TBCEL-TECTA,TECTAc.5825A>C (p.Tyr1942Ser)
c.5810A>C (p.Tyr1937Ser)
c.3117A>C
n.2205A>C
c.6767A>C (p.Tyr2256Ser)
11g.121168751A>GCA383036715TBCEL-TECTA,TECTAc.5825A>G (p.Tyr1942Cys)
c.5810A>G (p.Tyr1937Cys)
c.3117A>G
n.2205A>G
c.6767A>G (p.Tyr2256Cys)
 ClinVar dbSNP gnomAD v4
11g.121168751A>TCA6327829TBCEL-TECTA,TECTAc.5825A>T (p.Tyr1942Phe)
c.5810A>T (p.Tyr1937Phe)
c.3117A>T
n.2205A>T
c.6767A>T (p.Tyr2256Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168752C>ACA229853292TBCEL-TECTA,TECTAc.5826C>A (p.Tyr1942Ter)
c.5811C>A (p.Tyr1937Ter)
c.3118C>A
n.2206C>A
c.6768C>A (p.Tyr2256Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168752C=CA2004752401TBCEL-TECTA,TECTAc.5826C= (p.Tyr1942=)
c.5811C= (p.Tyr1937=)
c.3118C=
n.2206C=
c.6768C= (p.Tyr2256=)
11g.121168752C>GCA383036718TBCEL-TECTA,TECTAc.5826C>G (p.Tyr1942Ter)
c.5811C>G (p.Tyr1937Ter)
c.3118C>G
n.2206C>G
c.6768C>G (p.Tyr2256Ter)
 dbSNP
11g.121168752C>TCA477383585TBCEL-TECTA,TECTAc.5826C>T (p.Tyr1942=)
c.5811C>T (p.Tyr1937=)
c.3118C>T
n.2206C>T
c.6768C>T (p.Tyr2256=)
11g.121168753A>CCA383036720TBCEL-TECTA,TECTAc.5827A>C (p.Lys1943Gln)
c.5812A>C (p.Lys1938Gln)
c.3119A>C
n.2207A>C
c.6769A>C (p.Lys2257Gln)
11g.121168753A>GCA383036721TBCEL-TECTA,TECTAc.5827A>G (p.Lys1943Glu)
c.5812A>G (p.Lys1938Glu)
c.3119A>G
n.2207A>G
c.6769A>G (p.Lys2257Glu)
11g.121168753A>TCA383036722TBCEL-TECTA,TECTAc.5827A>T (p.Lys1943Ter)
c.5812A>T (p.Lys1938Ter)
c.3119A>T
n.2207A>T
c.6769A>T (p.Lys2257Ter)
11g.121168754A>CCA383036723TBCEL-TECTA,TECTAc.5828A>C (p.Lys1943Thr)
c.5813A>C (p.Lys1938Thr)
c.3120A>C
n.2208A>C
c.6770A>C (p.Lys2257Thr)
11g.121168754A>GCA383036724TBCEL-TECTA,TECTAc.5828A>G (p.Lys1943Arg)
c.5813A>G (p.Lys1938Arg)
c.3120A>G
n.2208A>G
c.6770A>G (p.Lys2257Arg)
11g.121168754A>TCA383036725TBCEL-TECTA,TECTAc.5828A>T (p.Lys1943Ile)
c.5813A>T (p.Lys1938Ile)
c.3120A>T
n.2208A>T
c.6770A>T (p.Lys2257Ile)
11g.121168755A=CA2004752412TBCEL-TECTA,TECTAc.5829A= (p.Lys1943=)
c.5814A= (p.Lys1938=)
c.3121A=
n.2209A=
c.6771A= (p.Lys2257=)
11g.121168755A>CCA383036727TBCEL-TECTA,TECTAc.5829A>C (p.Lys1943Asn)
c.5814A>C (p.Lys1938Asn)
c.3121A>C
n.2209A>C
c.6771A>C (p.Lys2257Asn)
11g.121168755A>GCA10638068TBCEL-TECTA,TECTAc.5829A>G (p.Lys1943=)
c.5814A>G (p.Lys1938=)
c.3121A>G
n.2209A>G
c.6771A>G (p.Lys2257=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121168755A>TCA383036726TBCEL-TECTA,TECTAc.5829A>T (p.Lys1943Asn)
c.5814A>T (p.Lys1938Asn)
c.3121A>T
n.2209A>T
c.6771A>T (p.Lys2257Asn)
 ClinVar dbSNP gnomAD v4
11g.121168756C>ACA383036728TBCEL-TECTA,TECTAc.5830C>A (p.His1944Asn)
c.5815C>A (p.His1939Asn)
c.3122C>A
n.2210C>A
c.6772C>A (p.His2258Asn)
11g.121168756C=CA2004752423TBCEL-TECTA,TECTAc.5830C= (p.His1944=)
c.5815C= (p.His1939=)
c.3122C=
n.2210C=
c.6772C= (p.His2258=)
11g.121168756C>GCA383036729TBCEL-TECTA,TECTAc.5830C>G (p.His1944Asp)
c.5815C>G (p.His1939Asp)
c.3122C>G
n.2210C>G
c.6772C>G (p.His2258Asp)
11g.121168756C>TCA6327830TBCEL-TECTA,TECTAc.5830C>T (p.His1944Tyr)
c.5815C>T (p.His1939Tyr)
c.3122C>T
n.2210C>T
c.6772C>T (p.His2258Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168757A=CA2004752429TBCEL-TECTA,TECTAc.5831A= (p.His1944=)
c.5816A= (p.His1939=)
c.3123A=
n.2211A=
c.6773A= (p.His2258=)
11g.121168757A>CCA383036730TBCEL-TECTA,TECTAc.5831A>C (p.His1944Pro)
c.5816A>C (p.His1939Pro)
c.3123A>C
n.2211A>C
c.6773A>C (p.His2258Pro)
11g.121168757A>GCA383036731TBCEL-TECTA,TECTAc.5831A>G (p.His1944Arg)
c.5816A>G (p.His1939Arg)
c.3123A>G
n.2211A>G
c.6773A>G (p.His2258Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121168757A>TCA383036732TBCEL-TECTA,TECTAc.5831A>T (p.His1944Leu)
c.5816A>T (p.His1939Leu)
c.3123A>T
n.2211A>T
c.6773A>T (p.His2258Leu)
11g.121168758T>ACA6327831TBCEL-TECTA,TECTAc.5832T>A (p.His1944Gln)
c.5817T>A (p.His1939Gln)
c.3124T>A
n.2212T>A
c.6774T>A (p.His2258Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121168758T>CCA477383586TBCEL-TECTA,TECTAc.5832T>C (p.His1944=)
c.5817T>C (p.His1939=)
c.3124T>C
n.2212T>C
c.6774T>C (p.His2258=)
 dbSNP
11g.121168758T>GCA383036733TBCEL-TECTA,TECTAc.5832T>G (p.His1944Gln)
c.5817T>G (p.His1939Gln)
c.3124T>G
n.2212T>G
c.6774T>G (p.His2258Gln)
11g.121168758T=CA2004752432TBCEL-TECTA,TECTAc.5832T= (p.His1944=)
c.5817T= (p.His1939=)
c.3124T=
n.2212T=
c.6774T= (p.His2258=)
11g.121168759C>ACA383036734TBCEL-TECTA,TECTAc.5833C>A (p.Pro1945Thr)
c.5818C>A (p.Pro1940Thr)
c.3125C>A
n.2213C>A
c.6775C>A (p.Pro2259Thr)
11g.121168759C>GCA383036735TBCEL-TECTA,TECTAc.5833C>G (p.Pro1945Ala)
c.5818C>G (p.Pro1940Ala)
c.3125C>G
n.2213C>G
c.6775C>G (p.Pro2259Ala)
11g.121168759C>TCA383036736TBCEL-TECTA,TECTAc.5833C>T (p.Pro1945Ser)
c.5818C>T (p.Pro1940Ser)
c.3125C>T
n.2213C>T
c.6775C>T (p.Pro2259Ser)
11g.121168760C>ACA383036739TBCEL-TECTA,TECTAc.5834C>A (p.Pro1945His)
c.5819C>A (p.Pro1940His)
c.3126C>A
n.2214C>A
c.6776C>A (p.Pro2259His)
 gnomAD v4
11g.121168760C>GCA383036738TBCEL-TECTA,TECTAc.5834C>G (p.Pro1945Arg)
c.5819C>G (p.Pro1940Arg)
c.3126C>G
n.2214C>G
c.6776C>G (p.Pro2259Arg)
11g.121168760C>TCA383036737TBCEL-TECTA,TECTAc.5834C>T (p.Pro1945Leu)
c.5819C>T (p.Pro1940Leu)
c.3126C>T
n.2214C>T
c.6776C>T (p.Pro2259Leu)
11g.121168761T>ACA477383587TBCEL-TECTA,TECTAc.5835T>A (p.Pro1945=)
c.5820T>A (p.Pro1940=)
c.3127T>A
n.2215T>A
c.6777T>A (p.Pro2259=)
11g.121168761T>CCA477383588TBCEL-TECTA,TECTAc.5835T>C (p.Pro1945=)
c.5820T>C (p.Pro1940=)
c.3127T>C
n.2215T>C
c.6777T>C (p.Pro2259=)
11g.121168761T>GCA477383589TBCEL-TECTA,TECTAc.5835T>G (p.Pro1945=)
c.5820T>G (p.Pro1940=)
c.3127T>G
n.2215T>G
c.6777T>G (p.Pro2259=)
11g.121168762T>ACA383036740TBCEL-TECTA,TECTAc.5836T>A (p.Tyr1946Asn)
c.5821T>A (p.Tyr1941Asn)
c.3128T>A
n.2216T>A
c.6778T>A (p.Tyr2260Asn)
11g.121168762T>CCA178113TBCEL-TECTA,TECTAc.5836T>C (p.Tyr1946His)
c.5821T>C (p.Tyr1941His)
c.3128T>C
n.2216T>C
c.6778T>C (p.Tyr2260His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168762T>GCA383036741TBCEL-TECTA,TECTAc.5836T>G (p.Tyr1946Asp)
c.5821T>G (p.Tyr1941Asp)
c.3128T>G
n.2216T>G
c.6778T>G (p.Tyr2260Asp)
11g.121168762T=CA2004752439TBCEL-TECTA,TECTAc.5836T= (p.Tyr1946=)
c.5821T= (p.Tyr1941=)
c.3128T=
n.2216T=
c.6778T= (p.Tyr2260=)
11g.121168763A>CCA383036742TBCEL-TECTA,TECTAc.5837A>C (p.Tyr1946Ser)
c.5822A>C (p.Tyr1941Ser)
c.3129A>C
n.2217A>C
c.6779A>C (p.Tyr2260Ser)
11g.121168763A>GCA383036743TBCEL-TECTA,TECTAc.5837A>G (p.Tyr1946Cys)
c.5822A>G (p.Tyr1941Cys)
c.3129A>G
n.2217A>G
c.6779A>G (p.Tyr2260Cys)
11g.121168763A>TCA383036744TBCEL-TECTA,TECTAc.5837A>T (p.Tyr1946Phe)
c.5822A>T (p.Tyr1941Phe)
c.3129A>T
n.2217A>T
c.6779A>T (p.Tyr2260Phe)
11g.121168764C>ACA383036745TBCEL-TECTA,TECTAc.5838C>A (p.Tyr1946Ter)
c.5823C>A (p.Tyr1941Ter)
c.3130C>A
n.2218C>A
c.6780C>A (p.Tyr2260Ter)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.121168764C=CA2004752443TBCEL-TECTA,TECTAc.5838C= (p.Tyr1946=)
c.5823C= (p.Tyr1941=)
c.3130C=
n.2218C=
c.6780C= (p.Tyr2260=)
11g.121168764C>GCA383036746TBCEL-TECTA,TECTAc.5838C>G (p.Tyr1946Ter)
c.5823C>G (p.Tyr1941Ter)
c.3130C>G
n.2218C>G
c.6780C>G (p.Tyr2260Ter)
11g.121168764C>TCA229853347TBCEL-TECTA,TECTAc.5838C>T (p.Tyr1946=)
c.5823C>T (p.Tyr1941=)
c.3130C>T
n.2218C>T
c.6780C>T (p.Tyr2260=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168765C>ACA383036747TBCEL-TECTA,TECTAc.5839C>A (p.Arg1947Ser)
c.5824C>A (p.Arg1942Ser)
c.3131C>A
n.2219C>A
c.6781C>A (p.Arg2261Ser)
11g.121168765C=CA2004752449TBCEL-TECTA,TECTAc.5839C= (p.Arg1947=)
c.5824C= (p.Arg1942=)
c.3131C=
n.2219C=
c.6781C= (p.Arg2261=)
11g.121168765C>GCA383036748TBCEL-TECTA,TECTAc.5839C>G (p.Arg1947Gly)
c.5824C>G (p.Arg1942Gly)
c.3131C>G
n.2219C>G
c.6781C>G (p.Arg2261Gly)
11g.121168765C>TCA383036749TBCEL-TECTA,TECTAc.5839C>T (p.Arg1947Cys)
c.5824C>T (p.Arg1942Cys)
c.3131C>T
n.2219C>T
c.6781C>T (p.Arg2261Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121168766G>ACA6327832TBCEL-TECTA,TECTAc.5840G>A (p.Arg1947His)
c.5825G>A (p.Arg1942His)
c.3132G>A
n.2220G>A
c.6782G>A (p.Arg2261His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121168766G>CCA383036750TBCEL-TECTA,TECTAc.5840G>C (p.Arg1947Pro)
c.5825G>C (p.Arg1942Pro)
c.3132G>C
n.2220G>C
c.6782G>C (p.Arg2261Pro)
11g.121168766G=CA2004752456TBCEL-TECTA,TECTAc.5840G= (p.Arg1947=)
c.5825G= (p.Arg1942=)
c.3132G=
n.2220G=
c.6782G= (p.Arg2261=)
11g.121168766G>TCA383036751TBCEL-TECTA,TECTAc.5840G>T (p.Arg1947Leu)
c.5825G>T (p.Arg1942Leu)
c.3132G>T
n.2220G>T
c.6782G>T (p.Arg2261Leu)
 gnomAD v4
11g.121168767C>ACA477383591TBCEL-TECTA,TECTAc.5841C>A (p.Arg1947=)
c.5826C>A (p.Arg1942=)
c.3133C>A
n.2221C>A
c.6783C>A (p.Arg2261=)
 dbSNP
11g.121168767C=CA2004752460TBCEL-TECTA,TECTAc.5841C= (p.Arg1947=)
c.5826C= (p.Arg1942=)
c.3133C=
n.2221C=
c.6783C= (p.Arg2261=)
11g.121168767C>GCA229853356TBCEL-TECTA,TECTAc.5841C>G (p.Arg1947=)
c.5826C>G (p.Arg1942=)
c.3133C>G
n.2221C>G
c.6783C>G (p.Arg2261=)
 dbSNP
11g.121168767C>TCA477383590TBCEL-TECTA,TECTAc.5841C>T (p.Arg1947=)
c.5826C>T (p.Arg1942=)
c.3133C>T
n.2221C>T
c.6783C>T (p.Arg2261=)
 gnomAD v4
11g.121168768C>ACA383036752TBCEL-TECTA,TECTAc.5842C>A (p.Gln1948Lys)
c.5827C>A (p.Gln1943Lys)
c.3134C>A
n.2222C>A
c.6784C>A (p.Gln2262Lys)
11g.121168768C>GCA383036753TBCEL-TECTA,TECTAc.5842C>G (p.Gln1948Glu)
c.5827C>G (p.Gln1943Glu)
c.3134C>G
n.2222C>G
c.6784C>G (p.Gln2262Glu)
11g.121168768C>TCA383036754TBCEL-TECTA,TECTAc.5842C>T (p.Gln1948Ter)
c.5827C>T (p.Gln1943Ter)
c.3134C>T
n.2222C>T
c.6784C>T (p.Gln2262Ter)
11g.121168769A=CA2004752464TBCEL-TECTA,TECTAc.5843A= (p.Gln1948=)
c.5828A= (p.Gln1943=)
c.3135A=
n.2223A=
c.6785A= (p.Gln2262=)
11g.121168769A>CCA383036755TBCEL-TECTA,TECTAc.5843A>C (p.Gln1948Pro)
c.5828A>C (p.Gln1943Pro)
c.3135A>C
n.2223A>C
c.6785A>C (p.Gln2262Pro)
11g.121168769A>GCA383036756TBCEL-TECTA,TECTAc.5843A>G (p.Gln1948Arg)
c.5828A>G (p.Gln1943Arg)
c.3135A>G
n.2223A>G
c.6785A>G (p.Gln2262Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121168769A>TCA383036757TBCEL-TECTA,TECTAc.5843A>T (p.Gln1948Leu)
c.5828A>T (p.Gln1943Leu)
c.3135A>T
n.2223A>T
c.6785A>T (p.Gln2262Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.121168770G>ACA477383592TBCEL-TECTA,TECTAc.5844G>A (p.Gln1948=)
c.5829G>A (p.Gln1943=)
c.3136G>A
n.2224G>A
c.6786G>A (p.Gln2262=)
11g.121168770G>CCA383036758TBCEL-TECTA,TECTAc.5844G>C (p.Gln1948His)
c.5829G>C (p.Gln1943His)
c.3136G>C
n.2224G>C
c.6786G>C (p.Gln2262His)
 dbSNP gnomAD v3 gnomAD v4
11g.121168770G=CA2004752468TBCEL-TECTA,TECTAc.5844G= (p.Gln1948=)
c.5829G= (p.Gln1943=)
c.3136G=
n.2224G=
c.6786G= (p.Gln2262=)
11g.121168770G>TCA383036759TBCEL-TECTA,TECTAc.5844G>T (p.Gln1948His)
c.5829G>T (p.Gln1943His)
c.3136G>T
n.2224G>T
c.6786G>T (p.Gln2262His)
11g.121168771G>ACA383036760TBCEL-TECTA,TECTAc.5845G>A (p.Gly1949Ser)
c.5830G>A (p.Gly1944Ser)
c.3137G>A
n.2225G>A
c.6787G>A (p.Gly2263Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.121168771G>CCA6327833TBCEL-TECTA,TECTAc.5845G>C (p.Gly1949Arg)
c.5830G>C (p.Gly1944Arg)
c.3137G>C
n.2225G>C
c.6787G>C (p.Gly2263Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168771G=CA2004752472TBCEL-TECTA,TECTAc.5845G= (p.Gly1949=)
c.5830G= (p.Gly1944=)
c.3137G=
n.2225G=
c.6787G= (p.Gly2263=)
11g.121168771G>TCA383036761TBCEL-TECTA,TECTAc.5845G>T (p.Gly1949Cys)
c.5830G>T (p.Gly1944Cys)
c.3137G>T
n.2225G>T
c.6787G>T (p.Gly2263Cys)
11g.121168772G>ACA383036763TBCEL-TECTA,TECTAc.5846G>A (p.Gly1949Asp)
c.5831G>A (p.Gly1944Asp)
c.3138G>A
n.2226G>A
c.6788G>A (p.Gly2263Asp)
11g.121168772G>CCA383036764TBCEL-TECTA,TECTAc.5846G>C (p.Gly1949Ala)
c.5831G>C (p.Gly1944Ala)
c.3138G>C
n.2226G>C
c.6788G>C (p.Gly2263Ala)
11g.121168772G>TCA383036762TBCEL-TECTA,TECTAc.5846G>T (p.Gly1949Val)
c.5831G>T (p.Gly1944Val)
c.3138G>T
n.2226G>T
c.6788G>T (p.Gly2263Val)

Number of alleles fetched