Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121160138A>C | CA383028113 | TBCEL-TECTA,TECTA | c.4693A>C (p.Asn1565His) c.2000A>C n.629A>C c.5650A>C (p.Asn1884His) | |
11 | g.121160138A>G | CA383028115 | TBCEL-TECTA,TECTA | c.4693A>G (p.Asn1565Asp) c.2000A>G n.629A>G c.5650A>G (p.Asn1884Asp) | |
11 | g.121160138A>T | CA383028117 | TBCEL-TECTA,TECTA | c.4693A>T (p.Asn1565Tyr) c.2000A>T n.629A>T c.5650A>T (p.Asn1884Tyr) | |
11 | g.121160139A>C | CA383028120 | TBCEL-TECTA,TECTA | c.4694A>C (p.Asn1565Thr) c.2001A>C n.630A>C c.5651A>C (p.Asn1884Thr) | |
11 | g.121160139A>G | CA383028122 | TBCEL-TECTA,TECTA | c.4694A>G (p.Asn1565Ser) c.2001A>G n.630A>G c.5651A>G (p.Asn1884Ser) | gnomAD v4 |
11 | g.121160139A>T | CA383028124 | TBCEL-TECTA,TECTA | c.4694A>T (p.Asn1565Ile) c.2001A>T n.630A>T c.5651A>T (p.Asn1884Ile) | |
11 | g.121160140T>A | CA383028126 | TBCEL-TECTA,TECTA | c.4695T>A (p.Asn1565Lys) c.2002T>A n.631T>A c.5652T>A (p.Asn1884Lys) | |
11 | g.121160140T>C | CA477383065 | TBCEL-TECTA,TECTA | c.4695T>C (p.Asn1565=) c.2002T>C n.631T>C c.5652T>C (p.Asn1884=) | |
11 | g.121160140T>G | CA383028127 | TBCEL-TECTA,TECTA | c.4695T>G (p.Asn1565Lys) c.2002T>G n.631T>G c.5652T>G (p.Asn1884Lys) | |
11 | g.121160141G>A | CA6327550 | TBCEL-TECTA,TECTA | c.4696G>A (p.Gly1566Ser) c.2003G>A n.632G>A c.5653G>A (p.Gly1885Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160141G>C | CA383028130 | TBCEL-TECTA,TECTA | c.4696G>C (p.Gly1566Arg) c.2003G>C n.632G>C c.5653G>C (p.Gly1885Arg) | |
11 | g.121160141G= | CA2004739115 | TBCEL-TECTA,TECTA | c.4696G= (p.Gly1566=) c.2003G= n.632G= c.5653G= (p.Gly1885=) | |
11 | g.121160141G>T | CA383028128 | TBCEL-TECTA,TECTA | c.4696G>T (p.Gly1566Cys) c.2003G>T n.632G>T c.5653G>T (p.Gly1885Cys) | |
11 | g.121160142G>A | CA383028132 | TBCEL-TECTA,TECTA | c.4697G>A (p.Gly1566Asp) c.2004G>A n.633G>A c.5654G>A (p.Gly1885Asp) | gnomAD v4 |
11 | g.121160142G>C | CA383028133 | TBCEL-TECTA,TECTA | c.4697G>C (p.Gly1566Ala) c.2004G>C n.633G>C c.5654G>C (p.Gly1885Ala) | dbSNP gnomAD v2 |
11 | g.121160142G= | CA2004739117 | TBCEL-TECTA,TECTA | c.4697G= (p.Gly1566=) c.2004G= n.633G= c.5654G= (p.Gly1885=) | |
11 | g.121160142G>T | CA383028135 | TBCEL-TECTA,TECTA | c.4697G>T (p.Gly1566Val) c.2004G>T n.633G>T c.5654G>T (p.Gly1885Val) | |
11 | g.121160143C>A | CA477383066 | TBCEL-TECTA,TECTA | c.4698C>A (p.Gly1566=) c.2005C>A n.634C>A c.5655C>A (p.Gly1885=) | |
11 | g.121160143C>G | CA477383067 | TBCEL-TECTA,TECTA | c.4698C>G (p.Gly1566=) c.2005C>G n.634C>G c.5655C>G (p.Gly1885=) | |
11 | g.121160143C>T | CA477383068 | TBCEL-TECTA,TECTA | c.4698C>T (p.Gly1566=) c.2005C>T n.634C>T c.5655C>T (p.Gly1885=) | |
11 | g.121160144A>C | CA383028139 | TBCEL-TECTA,TECTA | c.4699A>C (p.Thr1567Pro) c.2006A>C n.635A>C c.5656A>C (p.Thr1886Pro) | |
11 | g.121160144A>G | CA383028140 | TBCEL-TECTA,TECTA | c.4699A>G (p.Thr1567Ala) c.2006A>G n.635A>G c.5656A>G (p.Thr1886Ala) | |
11 | g.121160144A>T | CA383028142 | TBCEL-TECTA,TECTA | c.4699A>T (p.Thr1567Ser) c.2006A>T n.635A>T c.5656A>T (p.Thr1886Ser) | |
11 | g.121160145C>A | CA383028144 | TBCEL-TECTA,TECTA | c.4700C>A (p.Thr1567Lys) c.2007C>A n.636C>A c.5657C>A (p.Thr1886Lys) | gnomAD v4 |
11 | g.121160145C= | CA2004739119 | TBCEL-TECTA,TECTA | c.4700C= (p.Thr1567=) c.2007C= n.636C= c.5657C= (p.Thr1886=) | |
11 | g.121160145C>G | CA383028146 | TBCEL-TECTA,TECTA | c.4700C>G (p.Thr1567Arg) c.2007C>G n.636C>G c.5657C>G (p.Thr1886Arg) | |
11 | g.121160145C>T | CA383028147 | TBCEL-TECTA,TECTA | c.4700C>T (p.Thr1567Ile) c.2007C>T n.636C>T c.5657C>T (p.Thr1886Ile) | dbSNP |
11 | g.121160146A>C | CA477383069 | TBCEL-TECTA,TECTA | c.4701A>C (p.Thr1567=) c.2008A>C n.637A>C c.5658A>C (p.Thr1886=) | |
11 | g.121160146A>G | CA477383070 | TBCEL-TECTA,TECTA | c.4701A>G (p.Thr1567=) c.2008A>G n.637A>G c.5658A>G (p.Thr1886=) | dbSNP gnomAD v4 |
11 | g.121160146A>T | CA477383071 | TBCEL-TECTA,TECTA | c.4701A>T (p.Thr1567=) c.2008A>T n.637A>T c.5658A>T (p.Thr1886=) | |
11 | g.121160147C>A | CA383028148 | TBCEL-TECTA,TECTA | c.4702C>A (p.Gln1568Lys) c.2009C>A n.638C>A c.5659C>A (p.Gln1887Lys) | |
11 | g.121160147C>G | CA383028149 | TBCEL-TECTA,TECTA | c.4702C>G (p.Gln1568Glu) c.2009C>G n.638C>G c.5659C>G (p.Gln1887Glu) | |
11 | g.121160147C>T | CA383028150 | TBCEL-TECTA,TECTA | c.4702C>T (p.Gln1568Ter) c.2009C>T n.638C>T c.5659C>T (p.Gln1887Ter) | |
11 | g.121160148A>C | CA383028156 | TBCEL-TECTA,TECTA | c.4703A>C (p.Gln1568Pro) c.2010A>C n.639A>C c.5660A>C (p.Gln1887Pro) | |
11 | g.121160148A>G | CA383028159 | TBCEL-TECTA,TECTA | c.4703A>G (p.Gln1568Arg) c.2010A>G n.639A>G c.5660A>G (p.Gln1887Arg) | |
11 | g.121160148A>T | CA383028151 | TBCEL-TECTA,TECTA | c.4703A>T (p.Gln1568Leu) c.2010A>T n.639A>T c.5660A>T (p.Gln1887Leu) | gnomAD v4 |
11 | g.121160149A>C | CA383028161 | TBCEL-TECTA,TECTA | c.4704A>C (p.Gln1568His) c.2011A>C n.640A>C c.5661A>C (p.Gln1887His) | |
11 | g.121160149A>G | CA477383072 | TBCEL-TECTA,TECTA | c.4704A>G (p.Gln1568=) c.2011A>G n.640A>G c.5661A>G (p.Gln1887=) | |
11 | g.121160149A>T | CA383028163 | TBCEL-TECTA,TECTA | c.4704A>T (p.Gln1568His) c.2011A>T n.640A>T c.5661A>T (p.Gln1887His) | |
11 | g.121160150G>A | CA383028164 | TBCEL-TECTA,TECTA | c.4705G>A (p.Val1569Met) c.2012G>A n.641G>A c.5662G>A (p.Val1888Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121160150G>C | CA383028165 | TBCEL-TECTA,TECTA | c.4705G>C (p.Val1569Leu) c.2012G>C n.641G>C c.5662G>C (p.Val1888Leu) | |
11 | g.121160150G= | CA2004739122 | TBCEL-TECTA,TECTA | c.4705G= (p.Val1569=) c.2012G= n.641G= c.5662G= (p.Val1888=) | |
11 | g.121160150G>T | CA383028166 | TBCEL-TECTA,TECTA | c.4705G>T (p.Val1569Leu) c.2012G>T n.641G>T c.5662G>T (p.Val1888Leu) | |
11 | g.121160151T>A | CA383028173 | TBCEL-TECTA,TECTA | c.4706T>A (p.Val1569Glu) c.2013T>A n.642T>A c.5663T>A (p.Val1888Glu) | |
11 | g.121160151T>C | CA383028170 | TBCEL-TECTA,TECTA | c.4706T>C (p.Val1569Ala) c.2013T>C n.642T>C c.5663T>C (p.Val1888Ala) | |
11 | g.121160151T>G | CA383028172 | TBCEL-TECTA,TECTA | c.4706T>G (p.Val1569Gly) c.2013T>G n.642T>G c.5663T>G (p.Val1888Gly) | |
11 | g.121160152G>A | CA477383074 | TBCEL-TECTA,TECTA | c.4707G>A (p.Val1569=) c.2014G>A n.643G>A c.5664G>A (p.Val1888=) | |
11 | g.121160152G>C | CA477383075 | TBCEL-TECTA,TECTA | c.4707G>C (p.Val1569=) c.2014G>C n.643G>C c.5664G>C (p.Val1888=) | gnomAD v4 |
11 | g.121160152G>T | CA477383076 | TBCEL-TECTA,TECTA | c.4707G>T (p.Val1569=) c.2014G>T n.643G>T c.5664G>T (p.Val1888=) | |
11 | g.121160153A>C | CA383028175 | TBCEL-TECTA,TECTA | c.4708A>C (p.Asn1570His) c.2015A>C n.644A>C c.5665A>C (p.Asn1889His) | |
11 | g.121160153A>G | CA383028176 | TBCEL-TECTA,TECTA | c.4708A>G (p.Asn1570Asp) c.2015A>G n.644A>G c.5665A>G (p.Asn1889Asp) | |
11 | g.121160153A>T | CA383028177 | TBCEL-TECTA,TECTA | c.4708A>T (p.Asn1570Tyr) c.2015A>T n.644A>T c.5665A>T (p.Asn1889Tyr) | |
11 | g.121160154A>C | CA383028178 | TBCEL-TECTA,TECTA | c.4709A>C (p.Asn1570Thr) c.2016A>C n.645A>C c.5666A>C (p.Asn1889Thr) | |
11 | g.121160154A>G | CA383028184 | TBCEL-TECTA,TECTA | c.4709A>G (p.Asn1570Ser) c.2016A>G n.645A>G c.5666A>G (p.Asn1889Ser) | |
11 | g.121160154A>T | CA383028186 | TBCEL-TECTA,TECTA | c.4709A>T (p.Asn1570Ile) c.2016A>T n.645A>T c.5666A>T (p.Asn1889Ile) | |
11 | g.121160155T>A | CA383028189 | TBCEL-TECTA,TECTA | c.4710T>A (p.Asn1570Lys) c.2017T>A n.646T>A c.5667T>A (p.Asn1889Lys) | |
11 | g.121160155T>C | CA477383078 | TBCEL-TECTA,TECTA | c.4710T>C (p.Asn1570=) c.2017T>C n.646T>C c.5667T>C (p.Asn1889=) | |
11 | g.121160155T>G | CA383028188 | TBCEL-TECTA,TECTA | c.4710T>G (p.Asn1570Lys) c.2017T>G n.646T>G c.5667T>G (p.Asn1889Lys) | |
11 | g.121160156G>A | CA383028190 | TBCEL-TECTA,TECTA | c.4711G>A (p.Val1571Ile) c.2018G>A n.647G>A c.5668G>A (p.Val1890Ile) | gnomAD v4 |
11 | g.121160156G>C | CA383028193 | TBCEL-TECTA,TECTA | c.4711G>C (p.Val1571Leu) c.2018G>C n.647G>C c.5668G>C (p.Val1890Leu) | dbSNP gnomAD v4 |
11 | g.121160156G= | CA2004739125 | TBCEL-TECTA,TECTA | c.4711G= (p.Val1571=) c.2018G= n.647G= c.5668G= (p.Val1890=) | |
11 | g.121160156G>T | CA383028191 | TBCEL-TECTA,TECTA | c.4711G>T (p.Val1571Phe) c.2018G>T n.647G>T c.5668G>T (p.Val1890Phe) | |
11 | g.121160157T>A | CA383028195 | TBCEL-TECTA,TECTA | c.4712T>A (p.Val1571Asp) c.2019T>A n.648T>A c.5669T>A (p.Val1890Asp) | |
11 | g.121160157T>C | CA383028198 | TBCEL-TECTA,TECTA | c.4712T>C (p.Val1571Ala) c.2019T>C n.648T>C c.5669T>C (p.Val1890Ala) | |
11 | g.121160157T>G | CA383028200 | TBCEL-TECTA,TECTA | c.4712T>G (p.Val1571Gly) c.2019T>G n.648T>G c.5669T>G (p.Val1890Gly) | |
11 | g.121160158T>A | CA477383081 | TBCEL-TECTA,TECTA | c.4713T>A (p.Val1571=) c.2020T>A n.649T>A c.5670T>A (p.Val1890=) | |
11 | g.121160158T>C | CA477383082 | TBCEL-TECTA,TECTA | c.4713T>C (p.Val1571=) c.2020T>C n.649T>C c.5670T>C (p.Val1890=) | |
11 | g.121160158T>G | CA477383083 | TBCEL-TECTA,TECTA | c.4713T>G (p.Val1571=) c.2020T>G n.649T>G c.5670T>G (p.Val1890=) | |
11 | g.121160159C>A | CA383028207 | TBCEL-TECTA,TECTA | c.4714C>A (p.Pro1572Thr) c.2021C>A n.650C>A c.5671C>A (p.Pro1891Thr) | |
11 | g.121160159C>G | CA383028209 | TBCEL-TECTA,TECTA | c.4714C>G (p.Pro1572Ala) c.2021C>G n.650C>G c.5671C>G (p.Pro1891Ala) | |
11 | g.121160159C>T | CA383028218 | TBCEL-TECTA,TECTA | c.4714C>T (p.Pro1572Ser) c.2021C>T n.650C>T c.5671C>T (p.Pro1891Ser) | |
11 | g.121160160C>A | CA383028221 | TBCEL-TECTA,TECTA | c.4715C>A (p.Pro1572Gln) c.2022C>A n.651C>A c.5672C>A (p.Pro1891Gln) | dbSNP gnomAD v4 |
11 | g.121160160C= | CA2004739128 | TBCEL-TECTA,TECTA | c.4715C= (p.Pro1572=) c.2022C= n.651C= c.5672C= (p.Pro1891=) | |
11 | g.121160160C>G | CA383028223 | TBCEL-TECTA,TECTA | c.4715C>G (p.Pro1572Arg) c.2022C>G n.651C>G c.5672C>G (p.Pro1891Arg) | |
11 | g.121160160C>T | CA383028225 | TBCEL-TECTA,TECTA | c.4715C>T (p.Pro1572Leu) c.2022C>T n.651C>T c.5672C>T (p.Pro1891Leu) | |
11 | g.121160161A>C | CA477383084 | TBCEL-TECTA,TECTA | c.4716A>C (p.Pro1572=) c.2023A>C n.652A>C c.5673A>C (p.Pro1891=) | |
11 | g.121160161A>G | CA477383086 | TBCEL-TECTA,TECTA | c.4716A>G (p.Pro1572=) c.2023A>G n.652A>G c.5673A>G (p.Pro1891=) | |
11 | g.121160161A>T | CA477383085 | TBCEL-TECTA,TECTA | c.4716A>T (p.Pro1572=) c.2023A>T n.652A>T c.5673A>T (p.Pro1891=) | |
11 | g.121160162T>A | CA383028230 | TBCEL-TECTA,TECTA | c.4717T>A (p.Phe1573Ile) c.2024T>A n.653T>A c.5674T>A (p.Phe1892Ile) | |
11 | g.121160162T>C | CA383028231 | TBCEL-TECTA,TECTA | c.4717T>C (p.Phe1573Leu) c.2024T>C n.653T>C c.5674T>C (p.Phe1892Leu) | |
11 | g.121160162T>G | CA383028233 | TBCEL-TECTA,TECTA | c.4717T>G (p.Phe1573Val) c.2024T>G n.653T>G c.5674T>G (p.Phe1892Val) | |
11 | g.121160164del | CA2616489309 | TBCEL-TECTA,TECTA | c.4719del (p.Phe1573LeufsTer2) c.2026del n.655del c.5676del (p.Phe1892LeufsTer2) | gnomAD v4 |
11 | g.121160163T>A | CA383028237 | TBCEL-TECTA,TECTA | c.4718T>A (p.Phe1573Tyr) c.2025T>A n.654T>A c.5675T>A (p.Phe1892Tyr) | |
11 | g.121160163T>C | CA6327551 | TBCEL-TECTA,TECTA | c.4718T>C (p.Phe1573Ser) c.2025T>C n.654T>C c.5675T>C (p.Phe1892Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160163T>G | CA383028236 | TBCEL-TECTA,TECTA | c.4718T>G (p.Phe1573Cys) c.2025T>G n.654T>G c.5675T>G (p.Phe1892Cys) | |
11 | g.121160163T= | CA2004739133 | TBCEL-TECTA,TECTA | c.4718T= (p.Phe1573=) c.2025T= n.654T= c.5675T= (p.Phe1892=) | |
11 | g.121160164T>A | CA229846013 | TBCEL-TECTA,TECTA | c.4719T>A (p.Phe1573Leu) c.2026T>A n.655T>A c.5676T>A (p.Phe1892Leu) | dbSNP |
11 | g.121160164T>C | CA477383087 | TBCEL-TECTA,TECTA | c.4719T>C (p.Phe1573=) c.2026T>C n.655T>C c.5676T>C (p.Phe1892=) | |
11 | g.121160164T>G | CA383028239 | TBCEL-TECTA,TECTA | c.4719T>G (p.Phe1573Leu) c.2026T>G n.655T>G c.5676T>G (p.Phe1892Leu) | |
11 | g.121160164T= | CA2004739139 | TBCEL-TECTA,TECTA | c.4719T= (p.Phe1573=) c.2026T= n.655T= c.5676T= (p.Phe1892=) | |
11 | g.121160165A= | CA2004739142 | TBCEL-TECTA,TECTA | c.4720A= (p.Ile1574=) c.2027A= n.656A= c.5677A= (p.Ile1893=) | |
11 | g.121160165A>C | CA383028241 | TBCEL-TECTA,TECTA | c.4720A>C (p.Ile1574Leu) c.2027A>C n.656A>C c.5677A>C (p.Ile1893Leu) | |
11 | g.121160165A>G | CA6327552 | TBCEL-TECTA,TECTA | c.4720A>G (p.Ile1574Val) c.2027A>G n.656A>G c.5677A>G (p.Ile1893Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160165A>T | CA383028244 | TBCEL-TECTA,TECTA | c.4720A>T (p.Ile1574Leu) c.2027A>T n.656A>T c.5677A>T (p.Ile1893Leu) | |
11 | g.121160166T>A | CA383028246 | TBCEL-TECTA,TECTA | c.4721T>A (p.Ile1574Lys) c.2028T>A n.657T>A c.5678T>A (p.Ile1893Lys) | |
11 | g.121160166T>C | CA383028247 | TBCEL-TECTA,TECTA | c.4721T>C (p.Ile1574Thr) c.2028T>C n.657T>C c.5678T>C (p.Ile1893Thr) | gnomAD v4 |
11 | g.121160166T>G | CA383028252 | TBCEL-TECTA,TECTA | c.4721T>G (p.Ile1574Arg) c.2028T>G n.657T>G c.5678T>G (p.Ile1893Arg) | |
11 | g.121160167A= | CA2004739147 | TBCEL-TECTA,TECTA | c.4722A= (p.Ile1574=) c.2029A= n.658A= c.5679A= (p.Ile1893=) | |
11 | g.121160167A>C | CA477383090 | TBCEL-TECTA,TECTA | c.4722A>C (p.Ile1574=) c.2029A>C n.658A>C c.5679A>C (p.Ile1893=) | |
11 | g.121160167A>G | CA6327553 | TBCEL-TECTA,TECTA | c.4722A>G (p.Ile1574Met) c.2029A>G n.658A>G c.5679A>G (p.Ile1893Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160167A>T | CA477383089 | TBCEL-TECTA,TECTA | c.4722A>T (p.Ile1574=) c.2029A>T n.658A>T c.5679A>T (p.Ile1893=) | |
11 | g.121160168A>C | CA383028255 | TBCEL-TECTA,TECTA | c.4723A>C (p.Thr1575Pro) c.2030A>C n.659A>C c.5680A>C (p.Thr1894Pro) | |
11 | g.121160168A>G | CA383028257 | TBCEL-TECTA,TECTA | c.4723A>G (p.Thr1575Ala) c.2030A>G n.659A>G c.5680A>G (p.Thr1894Ala) | |
11 | g.121160168A>T | CA383028264 | TBCEL-TECTA,TECTA | c.4723A>T (p.Thr1575Ser) c.2030A>T n.659A>T c.5680A>T (p.Thr1894Ser) | |
11 | g.121160169C>A | CA383028269 | TBCEL-TECTA,TECTA | c.4724C>A (p.Thr1575Asn) c.2031C>A n.660C>A c.5681C>A (p.Thr1894Asn) | dbSNP |
11 | g.121160169C= | CA2004739150 | TBCEL-TECTA,TECTA | c.4724C= (p.Thr1575=) c.2031C= n.660C= c.5681C= (p.Thr1894=) | |
11 | g.121160169C>G | CA383028268 | TBCEL-TECTA,TECTA | c.4724C>G (p.Thr1575Ser) c.2031C>G n.660C>G c.5681C>G (p.Thr1894Ser) | COSMIC |
11 | g.121160169C>T | CA383028267 | TBCEL-TECTA,TECTA | c.4724C>T (p.Thr1575Ile) c.2031C>T n.660C>T c.5681C>T (p.Thr1894Ile) | |
11 | g.121160170T>A | CA477383161 | TBCEL-TECTA,TECTA | c.4725T>A (p.Thr1575=) c.2032T>A n.661T>A c.5682T>A (p.Thr1894=) | dbSNP |
11 | g.121160170T>C | CA477383162 | TBCEL-TECTA,TECTA | c.4725T>C (p.Thr1575=) c.2032T>C n.661T>C c.5682T>C (p.Thr1894=) | |
11 | g.121160170T>G | CA477383163 | TBCEL-TECTA,TECTA | c.4725T>G (p.Thr1575=) c.2032T>G n.661T>G c.5682T>G (p.Thr1894=) | |
11 | g.121160170T= | CA2004739153 | TBCEL-TECTA,TECTA | c.4725T= (p.Thr1575=) c.2032T= n.661T= c.5682T= (p.Thr1894=) | |
11 | g.121160171G>A | CA383028273 | TBCEL-TECTA,TECTA | c.4726G>A (p.Gly1576Ser) c.2033G>A n.662G>A c.5683G>A (p.Gly1895Ser) | |
11 | g.121160171G>C | CA383028275 | TBCEL-TECTA,TECTA | c.4726G>C (p.Gly1576Arg) c.2033G>C n.662G>C c.5683G>C (p.Gly1895Arg) | |
11 | g.121160171G>T | CA383028277 | TBCEL-TECTA,TECTA | c.4726G>T (p.Gly1576Cys) c.2033G>T n.662G>T c.5683G>T (p.Gly1895Cys) | |
11 | g.121160172G>A | CA383028279 | TBCEL-TECTA,TECTA | c.4727G>A (p.Gly1576Asp) c.2034G>A n.663G>A c.5684G>A (p.Gly1895Asp) | COSMIC |
11 | g.121160172G>C | CA383028284 | TBCEL-TECTA,TECTA | c.4727G>C (p.Gly1576Ala) c.2034G>C n.663G>C c.5684G>C (p.Gly1895Ala) | |
11 | g.121160172G= | CA2004739156 | TBCEL-TECTA,TECTA | c.4727G= (p.Gly1576=) c.2034G= n.663G= c.5684G= (p.Gly1895=) | |
11 | g.121160172G>T | CA229846021 | TBCEL-TECTA,TECTA | c.4727G>T (p.Gly1576Val) c.2034G>T n.663G>T c.5684G>T (p.Gly1895Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160173T>A | CA477383165 | TBCEL-TECTA,TECTA | c.4728T>A (p.Gly1576=) c.2035T>A n.664T>A c.5685T>A (p.Gly1895=) | |
11 | g.121160173T>C | CA477383167 | TBCEL-TECTA,TECTA | c.4728T>C (p.Gly1576=) c.2035T>C n.664T>C c.5685T>C (p.Gly1895=) | |
11 | g.121160173T>G | CA477383168 | TBCEL-TECTA,TECTA | c.4728T>G (p.Gly1576=) c.2035T>G n.664T>G c.5685T>G (p.Gly1895=) | dbSNP gnomAD v4 |
11 | g.121160173T= | CA2004739158 | TBCEL-TECTA,TECTA | c.4728T= (p.Gly1576=) c.2035T= n.664T= c.5685T= (p.Gly1895=) | |
11 | g.121160174T>A | CA383028286 | TBCEL-TECTA,TECTA | c.4729T>A (p.Leu1577Met) c.2036T>A n.665T>A c.5686T>A (p.Leu1896Met) | |
11 | g.121160174T>C | CA477383169 | TBCEL-TECTA,TECTA | c.4729T>C (p.Leu1577=) c.2036T>C n.665T>C c.5686T>C (p.Leu1896=) | |
11 | g.121160174T>G | CA383028288 | TBCEL-TECTA,TECTA | c.4729T>G (p.Leu1577Val) c.2036T>G n.665T>G c.5686T>G (p.Leu1896Val) | |
11 | g.121160175T>A | CA383028291 | TBCEL-TECTA,TECTA | c.4730T>A (p.Leu1577Ter) c.2037T>A n.666T>A c.5687T>A (p.Leu1896Ter) | |
11 | g.121160175T>C | CA383028293 | TBCEL-TECTA,TECTA | c.4730T>C (p.Leu1577Ser) c.2037T>C n.666T>C c.5687T>C (p.Leu1896Ser) | |
11 | g.121160175T>G | CA383028295 | TBCEL-TECTA,TECTA | c.4730T>G (p.Leu1577Trp) c.2037T>G n.666T>G c.5687T>G (p.Leu1896Trp) | |
11 | g.121160176G>A | CA477383170 | TBCEL-TECTA,TECTA | c.4731G>A (p.Leu1577=) c.2038G>A n.667G>A c.5688G>A (p.Leu1896=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160176G>C | CA383028303 | TBCEL-TECTA,TECTA | c.4731G>C (p.Leu1577Phe) c.2038G>C n.667G>C c.5688G>C (p.Leu1896Phe) | |
11 | g.121160176G= | CA2004739160 | TBCEL-TECTA,TECTA | c.4731G= (p.Leu1577=) c.2038G= n.667G= c.5688G= (p.Leu1896=) | |
11 | g.121160176G>T | CA383028307 | TBCEL-TECTA,TECTA | c.4731G>T (p.Leu1577Phe) c.2038G>T n.667G>T c.5688G>T (p.Leu1896Phe) | |
11 | g.121160177G>A | CA383028315 | TBCEL-TECTA,TECTA | c.4732G>A (p.Ala1578Thr) c.2039G>A n.668G>A c.5689G>A (p.Ala1897Thr) | gnomAD v4 |
11 | g.121160177G>C | CA383028311 | TBCEL-TECTA,TECTA | c.4732G>C (p.Ala1578Pro) c.2039G>C n.668G>C c.5689G>C (p.Ala1897Pro) | |
11 | g.121160177G>T | CA383028313 | TBCEL-TECTA,TECTA | c.4732G>T (p.Ala1578Ser) c.2039G>T n.668G>T c.5689G>T (p.Ala1897Ser) | |
11 | g.121160178C>A | CA383028317 | TBCEL-TECTA,TECTA | c.4733C>A (p.Ala1578Glu) c.2040C>A n.669C>A c.5690C>A (p.Ala1897Glu) | |
11 | g.121160178C= | CA2004739162 | TBCEL-TECTA,TECTA | c.4733C= (p.Ala1578=) c.2040C= n.669C= c.5690C= (p.Ala1897=) | |
11 | g.121160178C>G | CA383028319 | TBCEL-TECTA,TECTA | c.4733C>G (p.Ala1578Gly) c.2040C>G n.669C>G c.5690C>G (p.Ala1897Gly) | |
11 | g.121160178C>T | CA383028320 | TBCEL-TECTA,TECTA | c.4733C>T (p.Ala1578Val) c.2040C>T n.669C>T c.5690C>T (p.Ala1897Val) | dbSNP |
11 | g.121160179A>C | CA477383174 | TBCEL-TECTA,TECTA | c.4734A>C (p.Ala1578=) c.2041A>C n.670A>C c.5691A>C (p.Ala1897=) | |
11 | g.121160179A>G | CA477383175 | TBCEL-TECTA,TECTA | c.4734A>G (p.Ala1578=) c.2041A>G n.670A>G c.5691A>G (p.Ala1897=) | |
11 | g.121160179A>T | CA477383176 | TBCEL-TECTA,TECTA | c.4734A>T (p.Ala1578=) c.2041A>T n.670A>T c.5691A>T (p.Ala1897=) | |
11 | g.121160180A>C | CA383028322 | TBCEL-TECTA,TECTA | c.4735A>C (p.Thr1579Pro) c.2042A>C n.671A>C c.5692A>C (p.Thr1898Pro) | |
11 | g.121160180A>G | CA383028324 | TBCEL-TECTA,TECTA | c.4735A>G (p.Thr1579Ala) c.2042A>G n.671A>G c.5692A>G (p.Thr1898Ala) | |
11 | g.121160180A>T | CA383028327 | TBCEL-TECTA,TECTA | c.4735A>T (p.Thr1579Ser) c.2042A>T n.671A>T c.5692A>T (p.Thr1898Ser) | |
11 | g.121160181C>A | CA383028329 | TBCEL-TECTA,TECTA | c.4736C>A (p.Thr1579Asn) c.2043C>A n.672C>A c.5693C>A (p.Thr1898Asn) | |
11 | g.121160181C>G | CA383028331 | TBCEL-TECTA,TECTA | c.4736C>G (p.Thr1579Ser) c.2043C>G n.672C>G c.5693C>G (p.Thr1898Ser) | |
11 | g.121160181C>T | CA383028334 | TBCEL-TECTA,TECTA | c.4736C>T (p.Thr1579Ile) c.2043C>T n.672C>T c.5693C>T (p.Thr1898Ile) | gnomAD v4 |
11 | g.121160182C>A | CA477383177 | TBCEL-TECTA,TECTA | c.4737C>A (p.Thr1579=) c.2044C>A n.673C>A c.5694C>A (p.Thr1898=) | |
11 | g.121160182C>G | CA477383178 | TBCEL-TECTA,TECTA | c.4737C>G (p.Thr1579=) c.2044C>G n.673C>G c.5694C>G (p.Thr1898=) | |
11 | g.121160182C>T | CA477383179 | TBCEL-TECTA,TECTA | c.4737C>T (p.Thr1579=) c.2044C>T n.673C>T c.5694C>T (p.Thr1898=) | |
11 | g.121160183A>C | CA383028335 | TBCEL-TECTA,TECTA | c.4738A>C (p.Lys1580Gln) c.2045A>C n.674A>C c.5695A>C (p.Lys1899Gln) | ClinVar dbSNP gnomAD v4 |
11 | g.121160183A>G | CA383028337 | TBCEL-TECTA,TECTA | c.4738A>G (p.Lys1580Glu) c.2045A>G n.674A>G c.5695A>G (p.Lys1899Glu) | |
11 | g.121160183A>T | CA383028338 | TBCEL-TECTA,TECTA | c.4738A>T (p.Lys1580Ter) c.2045A>T n.674A>T c.5695A>T (p.Lys1899Ter) | |
11 | g.121160184A>C | CA383028342 | TBCEL-TECTA,TECTA | c.4739A>C (p.Lys1580Thr) c.2046A>C n.675A>C c.5696A>C (p.Lys1899Thr) | |
11 | g.121160184A>G | CA383028348 | TBCEL-TECTA,TECTA | c.4739A>G (p.Lys1580Arg) c.2046A>G n.675A>G c.5696A>G (p.Lys1899Arg) | |
11 | g.121160184A>T | CA383028345 | TBCEL-TECTA,TECTA | c.4739A>T (p.Lys1580Ile) c.2046A>T n.675A>T c.5696A>T (p.Lys1899Ile) | |
11 | g.121160185A= | CA2004739166 | TBCEL-TECTA,TECTA | c.4740A= (p.Lys1580=) c.2047A= n.676A= c.5697A= (p.Lys1899=) | |
11 | g.121160185A>C | CA6327555 | TBCEL-TECTA,TECTA | c.4740A>C (p.Lys1580Asn) c.2047A>C n.676A>C c.5697A>C (p.Lys1899Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160185A>G | CA6327554 | TBCEL-TECTA,TECTA | c.4740A>G (p.Lys1580=) c.2047A>G n.676A>G c.5697A>G (p.Lys1899=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160185A>T | CA383028351 | TBCEL-TECTA,TECTA | c.4740A>T (p.Lys1580Asn) c.2047A>T n.676A>T c.5697A>T (p.Lys1899Asn) | |
11 | g.121160185_121160186insCACACCCAACAC | CA2793889334 | TBCEL-TECTA,TECTA | c.4740_4741insCACACCCAACAC (p.Lys1580_Ile1581insHisThrGlnHis) c.2047_2048insCACACCCAACAC n.676_677insCACACCCAACAC c.5697_5698insCACACCCAACAC (p.Lys1899_Ile1900insHisThrGlnHis) | |
11 | g.121160186A>C | CA383028352 | TBCEL-TECTA,TECTA | c.4741A>C (p.Ile1581Leu) c.2048A>C n.677A>C c.5698A>C (p.Ile1900Leu) | |
11 | g.121160186A>G | CA383028353 | TBCEL-TECTA,TECTA | c.4741A>G (p.Ile1581Val) c.2048A>G n.677A>G c.5698A>G (p.Ile1900Val) | |
11 | g.121160186A>T | CA383028354 | TBCEL-TECTA,TECTA | c.4741A>T (p.Ile1581Phe) c.2048A>T n.677A>T c.5698A>T (p.Ile1900Phe) | |
11 | g.121160187T>A | CA383028355 | TBCEL-TECTA,TECTA | c.4742T>A (p.Ile1581Asn) c.2049T>A n.678T>A c.5699T>A (p.Ile1900Asn) | gnomAD v4 |
11 | g.121160187T>C | CA383028356 | TBCEL-TECTA,TECTA | c.4742T>C (p.Ile1581Thr) c.2049T>C n.678T>C c.5699T>C (p.Ile1900Thr) | |
11 | g.121160187T>G | CA383028357 | TBCEL-TECTA,TECTA | c.4742T>G (p.Ile1581Ser) c.2049T>G n.678T>G c.5699T>G (p.Ile1900Ser) | |
11 | g.121160188C>A | CA477383183 | TBCEL-TECTA,TECTA | c.4743C>A (p.Ile1581=) c.2050C>A n.679C>A c.5700C>A (p.Ile1900=) | |
11 | g.121160188C= | CA2004739170 | TBCEL-TECTA,TECTA | c.4743C= (p.Ile1581=) c.2050C= n.679C= c.5700C= (p.Ile1900=) | |
11 | g.121160188C>G | CA383028359 | TBCEL-TECTA,TECTA | c.4743C>G (p.Ile1581Met) c.2050C>G n.679C>G c.5700C>G (p.Ile1900Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121160188C>T | CA477383182 | TBCEL-TECTA,TECTA | c.4743C>T (p.Ile1581=) c.2050C>T n.679C>T c.5700C>T (p.Ile1900=) | COSMIC |
11 | g.121160189T>A | CA383028360 | TBCEL-TECTA,TECTA | c.4744T>A (p.Tyr1582Asn) c.2051T>A n.680T>A c.5701T>A (p.Tyr1901Asn) | |
11 | g.121160189T>C | CA6327556 | TBCEL-TECTA,TECTA | c.4744T>C (p.Tyr1582His) c.2051T>C n.680T>C c.5701T>C (p.Tyr1901His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160189T>G | CA383028364 | TBCEL-TECTA,TECTA | c.4744T>G (p.Tyr1582Asp) c.2051T>G n.680T>G c.5701T>G (p.Tyr1901Asp) | |
11 | g.121160189T= | CA2004739173 | TBCEL-TECTA,TECTA | c.4744T= (p.Tyr1582=) c.2051T= n.680T= c.5701T= (p.Tyr1901=) | |
11 | g.121160190A= | CA2004739178 | TBCEL-TECTA,TECTA | c.4745A= (p.Tyr1582=) c.2052A= n.681A= c.5702A= (p.Tyr1901=) | |
11 | g.121160190A>C | CA383028368 | TBCEL-TECTA,TECTA | c.4745A>C (p.Tyr1582Ser) c.2052A>C n.681A>C c.5702A>C (p.Tyr1901Ser) | |
11 | g.121160190A>G | CA383028369 | TBCEL-TECTA,TECTA | c.4745A>G (p.Tyr1582Cys) c.2052A>G n.681A>G c.5702A>G (p.Tyr1901Cys) | dbSNP |
11 | g.121160190A>T | CA383028371 | TBCEL-TECTA,TECTA | c.4745A>T (p.Tyr1582Phe) c.2052A>T n.681A>T c.5702A>T (p.Tyr1901Phe) | |
11 | g.121160191C>A | CA383028374 | TBCEL-TECTA,TECTA | c.4746C>A (p.Tyr1582Ter) c.2053C>A n.682C>A c.5703C>A (p.Tyr1901Ter) | |
11 | g.121160191C>G | CA383028375 | TBCEL-TECTA,TECTA | c.4746C>G (p.Tyr1582Ter) c.2053C>G n.682C>G c.5703C>G (p.Tyr1901Ter) | |
11 | g.121160191C>T | CA477383184 | TBCEL-TECTA,TECTA | c.4746C>T (p.Tyr1582=) c.2053C>T n.682C>T c.5703C>T (p.Tyr1901=) | |
11 | g.121160192A= | CA2004739180 | TBCEL-TECTA,TECTA | c.4747A= (p.Ser1583=) c.2054A= n.683A= c.5704A= (p.Ser1902=) | |
11 | g.121160192A>C | CA383028376 | TBCEL-TECTA,TECTA | c.4747A>C (p.Ser1583Arg) c.2054A>C n.683A>C c.5704A>C (p.Ser1902Arg) | |
11 | g.121160192A>G | CA383028377 | TBCEL-TECTA,TECTA | c.4747A>G (p.Ser1583Gly) c.2054A>G n.683A>G c.5704A>G (p.Ser1902Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121160192A>T | CA383028378 | TBCEL-TECTA,TECTA | c.4747A>T (p.Ser1583Cys) c.2054A>T n.683A>T c.5704A>T (p.Ser1902Cys) | |
11 | g.121160193G>A | CA383028381 | TBCEL-TECTA,TECTA | c.4748G>A (p.Ser1583Asn) c.2055G>A n.684G>A c.5705G>A (p.Ser1902Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121160193G>C | CA383028386 | TBCEL-TECTA,TECTA | c.4748G>C (p.Ser1583Thr) c.2055G>C n.684G>C c.5705G>C (p.Ser1902Thr) | |
11 | g.121160193G= | CA2004739183 | TBCEL-TECTA,TECTA | c.4748G= (p.Ser1583=) c.2055G= n.684G= c.5705G= (p.Ser1902=) | |
11 | g.121160193G>T | CA383028389 | TBCEL-TECTA,TECTA | c.4748G>T (p.Ser1583Ile) c.2055G>T n.684G>T c.5705G>T (p.Ser1902Ile) | |
11 | g.121160194C>A | CA383028391 | TBCEL-TECTA,TECTA | c.4749C>A (p.Ser1583Arg) c.2056C>A n.685C>A c.5706C>A (p.Ser1902Arg) | |
11 | g.121160194C>G | CA383028393 | TBCEL-TECTA,TECTA | c.4749C>G (p.Ser1583Arg) c.2056C>G n.685C>G c.5706C>G (p.Ser1902Arg) | |
11 | g.121160194C>T | CA477383186 | TBCEL-TECTA,TECTA | c.4749C>T (p.Ser1583=) c.2056C>T n.685C>T c.5706C>T (p.Ser1902=) | |
11 | g.121160195A>C | CA383028395 | TBCEL-TECTA,TECTA | c.4750A>C (p.Ser1584Arg) c.2057A>C n.686A>C c.5707A>C (p.Ser1903Arg) | |
11 | g.121160195A>G | CA383028397 | TBCEL-TECTA,TECTA | c.4750A>G (p.Ser1584Gly) c.2057A>G n.686A>G c.5707A>G (p.Ser1903Gly) | |
11 | g.121160195A>T | CA383028398 | TBCEL-TECTA,TECTA | c.4750A>T (p.Ser1584Cys) c.2057A>T n.686A>T c.5707A>T (p.Ser1903Cys) | |
11 | g.121160196G>A | CA383028406 | TBCEL-TECTA,TECTA | c.4751G>A (p.Ser1584Asn) c.2058G>A n.687G>A c.5708G>A (p.Ser1903Asn) | |
11 | g.121160196G>C | CA136057 | TBCEL-TECTA,TECTA | c.4751G>C (p.Ser1584Thr) c.2058G>C n.687G>C c.5708G>C (p.Ser1903Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160196G= | CA2004739187 | TBCEL-TECTA,TECTA | c.4751G= (p.Ser1584=) c.2058G= n.687G= c.5708G= (p.Ser1903=) | |
11 | g.121160196G>T | CA383028402 | TBCEL-TECTA,TECTA | c.4751G>T (p.Ser1584Ile) c.2058G>T n.687G>T c.5708G>T (p.Ser1903Ile) | |
11 | g.121160197T>A | CA383028413 | TBCEL-TECTA,TECTA | c.4752T>A (p.Ser1584Arg) c.2059T>A n.688T>A c.5709T>A (p.Ser1903Arg) | |
11 | g.121160197T>C | CA477383187 | TBCEL-TECTA,TECTA | c.4752T>C (p.Ser1584=) c.2059T>C n.688T>C c.5709T>C (p.Ser1903=) | |
11 | g.121160197T>G | CA383028410 | TBCEL-TECTA,TECTA | c.4752T>G (p.Ser1584Arg) c.2059T>G n.688T>G c.5709T>G (p.Ser1903Arg) | |
11 | g.121160198G>A | CA383028416 | TBCEL-TECTA,TECTA | c.4753G>A (p.Glu1585Lys) c.2060G>A n.689G>A c.5710G>A (p.Glu1904Lys) | gnomAD v4 |
11 | g.121160198G>C | CA383028418 | TBCEL-TECTA,TECTA | c.4753G>C (p.Glu1585Gln) c.2060G>C n.689G>C c.5710G>C (p.Glu1904Gln) | |
11 | g.121160198G>T | CA383028420 | TBCEL-TECTA,TECTA | c.4753G>T (p.Glu1585Ter) c.2060G>T n.689G>T c.5710G>T (p.Glu1904Ter) | |
11 | g.121160199A>C | CA383028424 | TBCEL-TECTA,TECTA | c.4754A>C (p.Glu1585Ala) c.2061A>C n.690A>C c.5711A>C (p.Glu1904Ala) | |
11 | g.121160199A>G | CA383028428 | TBCEL-TECTA,TECTA | c.4754A>G (p.Glu1585Gly) c.2061A>G n.690A>G c.5711A>G (p.Glu1904Gly) | |
11 | g.121160199A>T | CA383028431 | TBCEL-TECTA,TECTA | c.4754A>T (p.Glu1585Val) c.2061A>T n.690A>T c.5711A>T (p.Glu1904Val) | |
11 | g.121160200G>A | CA477383191 | TBCEL-TECTA,TECTA | c.4755G>A (p.Glu1585=) c.2062G>A n.691G>A c.5712G>A (p.Glu1904=) | |
11 | g.121160200G>C | CA383028432 | TBCEL-TECTA,TECTA | c.4755G>C (p.Glu1585Asp) c.2062G>C n.691G>C c.5712G>C (p.Glu1904Asp) | |
11 | g.121160200G>T | CA383028436 | TBCEL-TECTA,TECTA | c.4755G>T (p.Glu1585Asp) c.2062G>T n.691G>T c.5712G>T (p.Glu1904Asp) | |
11 | g.121160201G>A | CA383028439 | TBCEL-TECTA,TECTA | c.4756G>A (p.Gly1586Arg) c.2063G>A n.692G>A c.5713G>A (p.Gly1905Arg) | |
11 | g.121160201G>C | CA383028443 | TBCEL-TECTA,TECTA | c.4756G>C (p.Gly1586Arg) c.2063G>C n.692G>C c.5713G>C (p.Gly1905Arg) | |
11 | g.121160201G>T | CA383028446 | TBCEL-TECTA,TECTA | c.4756G>T (p.Gly1586Trp) c.2063G>T n.692G>T c.5713G>T (p.Gly1905Trp) | |
11 | g.121160202G>A | CA383028452 | TBCEL-TECTA,TECTA | c.4757G>A (p.Gly1586Glu) c.2064G>A n.693G>A c.5714G>A (p.Gly1905Glu) | |
11 | g.121160202G>C | CA383028453 | TBCEL-TECTA,TECTA | c.4757G>C (p.Gly1586Ala) c.2064G>C n.693G>C c.5714G>C (p.Gly1905Ala) | |
11 | g.121160202G>T | CA383028449 | TBCEL-TECTA,TECTA | c.4757G>T (p.Gly1586Val) c.2064G>T n.693G>T c.5714G>T (p.Gly1905Val) | |
11 | g.121160203G>A | CA477383193 | TBCEL-TECTA,TECTA | c.4758G>A (p.Gly1586=) c.2065G>A n.694G>A c.5715G>A (p.Gly1905=) | |
11 | g.121160203G>C | CA477383194 | TBCEL-TECTA,TECTA | c.4758G>C (p.Gly1586=) c.2065G>C n.694G>C c.5715G>C (p.Gly1905=) | |
11 | g.121160203G>T | CA477383195 | TBCEL-TECTA,TECTA | c.4758G>T (p.Gly1586=) c.2065G>T n.694G>T c.5715G>T (p.Gly1905=) | gnomAD v4 |
11 | g.121160204T>A | CA383028455 | TBCEL-TECTA,TECTA | c.4759T>A (p.Phe1587Ile) c.2066T>A n.695T>A c.5716T>A (p.Phe1906Ile) | gnomAD v4 |
11 | g.121160204T>C | CA383028457 | TBCEL-TECTA,TECTA | c.4759T>C (p.Phe1587Leu) c.2066T>C n.695T>C c.5716T>C (p.Phe1906Leu) | |
11 | g.121160204T>G | CA383028459 | TBCEL-TECTA,TECTA | c.4759T>G (p.Phe1587Val) c.2066T>G n.695T>G c.5716T>G (p.Phe1906Val) | |
11 | g.121160205T>A | CA383028463 | TBCEL-TECTA,TECTA | c.4760T>A (p.Phe1587Tyr) c.2067T>A n.696T>A c.5717T>A (p.Phe1906Tyr) | |
11 | g.121160205T>C | CA383028465 | TBCEL-TECTA,TECTA | c.4760T>C (p.Phe1587Ser) c.2067T>C n.696T>C c.5717T>C (p.Phe1906Ser) | |
11 | g.121160205T>G | CA383028467 | TBCEL-TECTA,TECTA | c.4760T>G (p.Phe1587Cys) c.2067T>G n.696T>G c.5717T>G (p.Phe1906Cys) | |
11 | g.121160206T>A | CA383028468 | TBCEL-TECTA,TECTA | c.4761T>A (p.Phe1587Leu) c.2068T>A n.697T>A c.5718T>A (p.Phe1906Leu) | |
11 | g.121160206T>C | CA229846045 | TBCEL-TECTA,TECTA | c.4761T>C (p.Phe1587=) c.2068T>C n.697T>C c.5718T>C (p.Phe1906=) | dbSNP |
11 | g.121160206T>G | CA383028470 | TBCEL-TECTA,TECTA | c.4761T>G (p.Phe1587Leu) c.2068T>G n.697T>G c.5718T>G (p.Phe1906Leu) | |
11 | g.121160206T= | CA2004739190 | TBCEL-TECTA,TECTA | c.4761T= (p.Phe1587=) c.2068T= n.697T= c.5718T= (p.Phe1906=) | |
11 | g.121160207C>A | CA383028474 | TBCEL-TECTA,TECTA | c.4762C>A (p.Leu1588Met) c.2069C>A n.698C>A c.5719C>A (p.Leu1907Met) | |
11 | g.121160207C>G | CA383028476 | TBCEL-TECTA,TECTA | c.4762C>G (p.Leu1588Val) c.2069C>G n.698C>G c.5719C>G (p.Leu1907Val) | |
11 | g.121160207C>T | CA477383196 | TBCEL-TECTA,TECTA | c.4762C>T (p.Leu1588=) c.2069C>T n.698C>T c.5719C>T (p.Leu1907=) | |
11 | g.121160208T>A | CA383028481 | TBCEL-TECTA,TECTA | c.4763T>A (p.Leu1588Gln) c.2070T>A n.699T>A c.5720T>A (p.Leu1907Gln) | |
11 | g.121160208T>C | CA383028482 | TBCEL-TECTA,TECTA | c.4763T>C (p.Leu1588Pro) c.2070T>C n.699T>C c.5720T>C (p.Leu1907Pro) | |
11 | g.121160208T>G | CA383028486 | TBCEL-TECTA,TECTA | c.4763T>G (p.Leu1588Arg) c.2070T>G n.699T>G c.5720T>G (p.Leu1907Arg) | |
11 | g.121160209G>A | CA477383198 | TBCEL-TECTA,TECTA | c.4764G>A (p.Leu1588=) c.2071G>A n.700G>A c.5721G>A (p.Leu1907=) | gnomAD v4 |
11 | g.121160209G>C | CA6327557 | TBCEL-TECTA,TECTA | c.4764G>C (p.Leu1588=) c.2071G>C n.700G>C c.5721G>C (p.Leu1907=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160209G= | CA2004739192 | TBCEL-TECTA,TECTA | c.4764G= (p.Leu1588=) c.2071G= n.700G= c.5721G= (p.Leu1907=) | |
11 | g.121160209G>T | CA477383199 | TBCEL-TECTA,TECTA | c.4764G>T (p.Leu1588=) c.2071G>T n.700G>T c.5721G>T (p.Leu1907=) | |
11 | g.121160210G>A | CA383028508 | TBCEL-TECTA,TECTA | c.4765G>A (p.Val1589Met) c.2072G>A n.701G>A c.5722G>A (p.Val1908Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121160210G>C | CA383028494 | TBCEL-TECTA,TECTA | c.4765G>C (p.Val1589Leu) c.2072G>C n.701G>C c.5722G>C (p.Val1908Leu) | dbSNP gnomAD v4 |
11 | g.121160210G= | CA2004739195 | TBCEL-TECTA,TECTA | c.4765G= (p.Val1589=) c.2072G= n.701G= c.5722G= (p.Val1908=) | |
11 | g.121160210G>T | CA383028492 | TBCEL-TECTA,TECTA | c.4765G>T (p.Val1589Leu) c.2072G>T n.701G>T c.5722G>T (p.Val1908Leu) | |
11 | g.121160211T>A | CA383028510 | TBCEL-TECTA,TECTA | c.4766T>A (p.Val1589Glu) c.2073T>A n.702T>A c.5723T>A (p.Val1908Glu) | |
11 | g.121160211T>C | CA383028512 | TBCEL-TECTA,TECTA | c.4766T>C (p.Val1589Ala) c.2073T>C n.702T>C c.5723T>C (p.Val1908Ala) | |
11 | g.121160211T>G | CA383028533 | TBCEL-TECTA,TECTA | c.4766T>G (p.Val1589Gly) c.2073T>G n.702T>G c.5723T>G (p.Val1908Gly) | |
11 | g.121160212G>A | CA6327558 | TBCEL-TECTA,TECTA | c.4767G>A (p.Val1589=) c.2074G>A n.703G>A c.5724G>A (p.Val1908=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160212G>C | CA477383200 | TBCEL-TECTA,TECTA | c.4767G>C (p.Val1589=) c.2074G>C n.703G>C c.5724G>C (p.Val1908=) | |
11 | g.121160212G= | CA2004739197 | TBCEL-TECTA,TECTA | c.4767G= (p.Val1589=) c.2074G= n.703G= c.5724G= (p.Val1908=) | |
11 | g.121160212G>T | CA477383201 | TBCEL-TECTA,TECTA | c.4767G>T (p.Val1589=) c.2074G>T n.703G>T c.5724G>T (p.Val1908=) | |
11 | g.121160213A= | CA2004739199 | TBCEL-TECTA,TECTA | c.4768A= (p.Ile1590=) c.2075A= n.704A= c.5725A= (p.Ile1909=) | |
11 | g.121160213A>C | CA383028536 | TBCEL-TECTA,TECTA | c.4768A>C (p.Ile1590Leu) c.2075A>C n.704A>C c.5725A>C (p.Ile1909Leu) | |
11 | g.121160213A>G | CA6327559 | TBCEL-TECTA,TECTA | c.4768A>G (p.Ile1590Val) c.2075A>G n.704A>G c.5725A>G (p.Ile1909Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160213A>T | CA383028538 | TBCEL-TECTA,TECTA | c.4768A>T (p.Ile1590Phe) c.2075A>T n.704A>T c.5725A>T (p.Ile1909Phe) | |
11 | g.121160214T>A | CA383028540 | TBCEL-TECTA,TECTA | c.4769T>A (p.Ile1590Asn) c.2076T>A n.705T>A c.5726T>A (p.Ile1909Asn) | |
11 | g.121160214T>C | CA383028546 | TBCEL-TECTA,TECTA | c.4769T>C (p.Ile1590Thr) c.2076T>C n.705T>C c.5726T>C (p.Ile1909Thr) | |
11 | g.121160214T>G | CA383028543 | TBCEL-TECTA,TECTA | c.4769T>G (p.Ile1590Ser) c.2076T>G n.705T>G c.5726T>G (p.Ile1909Ser) | |
11 | g.121160215T>A | CA477383202 | TBCEL-TECTA,TECTA | c.4770T>A (p.Ile1590=) c.2077T>A n.706T>A c.5727T>A (p.Ile1909=) | |
11 | g.121160215T>C | CA477383203 | TBCEL-TECTA,TECTA | c.4770T>C (p.Ile1590=) c.2077T>C n.706T>C c.5727T>C (p.Ile1909=) | |
11 | g.121160215T>G | CA383028547 | TBCEL-TECTA,TECTA | c.4770T>G (p.Ile1590Met) c.2077T>G n.706T>G c.5727T>G (p.Ile1909Met) | |
11 | g.121160216G>A | CA383028550 | TBCEL-TECTA,TECTA | c.4771G>A (p.Asp1591Asn) c.2078G>A n.707G>A c.5728G>A (p.Asp1910Asn) | |
11 | g.121160216G>C | CA6327560 | TBCEL-TECTA,TECTA | c.4771G>C (p.Asp1591His) c.2078G>C n.707G>C c.5728G>C (p.Asp1910His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160216G= | CA2004739202 | TBCEL-TECTA,TECTA | c.4771G= (p.Asp1591=) c.2078G= n.707G= c.5728G= (p.Asp1910=) | |
11 | g.121160216G>T | CA383028552 | TBCEL-TECTA,TECTA | c.4771G>T (p.Asp1591Tyr) c.2078G>T n.707G>T c.5728G>T (p.Asp1910Tyr) | |
11 | g.121160217A>C | CA383028563 | TBCEL-TECTA,TECTA | c.4772A>C (p.Asp1591Ala) c.2079A>C n.708A>C c.5729A>C (p.Asp1910Ala) | |
11 | g.121160217A>G | CA383028558 | TBCEL-TECTA,TECTA | c.4772A>G (p.Asp1591Gly) c.2079A>G n.708A>G c.5729A>G (p.Asp1910Gly) | |
11 | g.121160217A>T | CA383028560 | TBCEL-TECTA,TECTA | c.4772A>T (p.Asp1591Val) c.2079A>T n.708A>T c.5729A>T (p.Asp1910Val) | |
11 | g.121160218C>A | CA383028565 | TBCEL-TECTA,TECTA | c.4773C>A (p.Asp1591Glu) c.2080C>A n.709C>A c.5730C>A (p.Asp1910Glu) | |
11 | g.121160218C>G | CA383028568 | TBCEL-TECTA,TECTA | c.4773C>G (p.Asp1591Glu) c.2080C>G n.709C>G c.5730C>G (p.Asp1910Glu) | |
11 | g.121160218C>T | CA477383205 | TBCEL-TECTA,TECTA | c.4773C>T (p.Asp1591=) c.2080C>T n.709C>T c.5730C>T (p.Asp1910=) | gnomAD v4 |
11 | g.121160219A>C | CA383028572 | TBCEL-TECTA,TECTA | c.4774A>C (p.Thr1592Pro) c.2081A>C n.710A>C c.5731A>C (p.Thr1911Pro) | |
11 | g.121160219A>G | CA383028574 | TBCEL-TECTA,TECTA | c.4774A>G (p.Thr1592Ala) c.2081A>G n.710A>G c.5731A>G (p.Thr1911Ala) | |
11 | g.121160219A>T | CA383028577 | TBCEL-TECTA,TECTA | c.4774A>T (p.Thr1592Ser) c.2081A>T n.710A>T c.5731A>T (p.Thr1911Ser) | |
11 | g.121160220C>A | CA6327561 | TBCEL-TECTA,TECTA | c.4775C>A (p.Thr1592Asn) c.2082C>A n.711C>A c.5732C>A (p.Thr1911Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160220C= | CA2004739204 | TBCEL-TECTA,TECTA | c.4775C= (p.Thr1592=) c.2082C= n.711C= c.5732C= (p.Thr1911=) | |
11 | g.121160220C>G | CA383028582 | TBCEL-TECTA,TECTA | c.4775C>G (p.Thr1592Ser) c.2082C>G n.711C>G c.5732C>G (p.Thr1911Ser) | gnomAD v4 |
11 | g.121160220C>T | CA383028585 | TBCEL-TECTA,TECTA | c.4775C>T (p.Thr1592Ile) c.2082C>T n.711C>T c.5732C>T (p.Thr1911Ile) | |
11 | g.121160221C>A | CA477383207 | TBCEL-TECTA,TECTA | c.4776C>A (p.Thr1592=) c.2083C>A n.712C>A c.5733C>A (p.Thr1911=) | gnomAD v4 |
11 | g.121160221C= | CA2004739208 | TBCEL-TECTA,TECTA | c.4776C= (p.Thr1592=) c.2083C= n.712C= c.5733C= (p.Thr1911=) | |
11 | g.121160221C>G | CA477383208 | TBCEL-TECTA,TECTA | c.4776C>G (p.Thr1592=) c.2083C>G n.712C>G c.5733C>G (p.Thr1911=) | |
11 | g.121160221C>T | CA6327562 | TBCEL-TECTA,TECTA | c.4776C>T (p.Thr1592=) c.2083C>T n.712C>T c.5733C>T (p.Thr1911=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160222A>C | CA383028590 | TBCEL-TECTA,TECTA | c.4777A>C (p.Ser1593Arg) c.2084A>C n.713A>C c.5734A>C (p.Ser1912Arg) | |
11 | g.121160222A>G | CA383028591 | TBCEL-TECTA,TECTA | c.4777A>G (p.Ser1593Gly) c.2084A>G n.713A>G c.5734A>G (p.Ser1912Gly) | |
11 | g.121160222A>T | CA383028597 | TBCEL-TECTA,TECTA | c.4777A>T (p.Ser1593Cys) c.2084A>T n.713A>T c.5734A>T (p.Ser1912Cys) | |
11 | g.121160223G>A | CA383028603 | TBCEL-TECTA,TECTA | c.4778G>A (p.Ser1593Asn) c.2085G>A n.714G>A c.5735G>A (p.Ser1912Asn) | ClinVar gnomAD v4 |
11 | g.121160223G>C | CA383028599 | TBCEL-TECTA,TECTA | c.4778G>C (p.Ser1593Thr) c.2085G>C n.714G>C c.5735G>C (p.Ser1912Thr) | |
11 | g.121160223G= | CA2004739210 | TBCEL-TECTA,TECTA | c.4778G= (p.Ser1593=) c.2085G= n.714G= c.5735G= (p.Ser1912=) | |
11 | g.121160223G>T | CA6327563 | TBCEL-TECTA,TECTA | c.4778G>T (p.Ser1593Ile) c.2085G>T n.714G>T c.5735G>T (p.Ser1912Ile) | dbSNP ExAC gnomAD v2 |
11 | g.121160224C>A | CA383028605 | TBCEL-TECTA,TECTA | c.4779C>A (p.Ser1593Arg) c.2086C>A n.715C>A c.5736C>A (p.Ser1912Arg) | |
11 | g.121160224C>G | CA383028607 | TBCEL-TECTA,TECTA | c.4779C>G (p.Ser1593Arg) c.2086C>G n.715C>G c.5736C>G (p.Ser1912Arg) | |
11 | g.121160224C>T | CA477383210 | TBCEL-TECTA,TECTA | c.4779C>T (p.Ser1593=) c.2086C>T n.715C>T c.5736C>T (p.Ser1912=) | |
11 | g.121160226dup | CA477383211 | TBCEL-TECTA,TECTA | c.4781dup (p.Asp1595ArgfsTer13) c.2088dup n.717dup c.5738dup (p.Asp1914ArgfsTer13) | |
11 | g.121160224_121160232delinsCCCAGACAT | CA2004739212 | TBCEL-TECTA,TECTA | c.4779_4787delinsCCCAGACAT (p.Ser1593=) c.2086_2094delinsCCCAGACAT n.715_723delinsCCCAGACAT c.5736_5744delinsCCCAGACAT (p.Ser1912=) | |
11 | g.121160225C>A | CA383028608 | TBCEL-TECTA,TECTA | c.4780C>A (p.Pro1594Thr) c.2087C>A n.716C>A c.5737C>A (p.Pro1913Thr) | dbSNP |
11 | g.121160225C= | CA2004739216 | TBCEL-TECTA,TECTA | c.4780C= (p.Pro1594=) c.2087C= n.716C= c.5737C= (p.Pro1913=) | |
11 | g.121160225C>G | CA383028610 | TBCEL-TECTA,TECTA | c.4780C>G (p.Pro1594Ala) c.2087C>G n.716C>G c.5737C>G (p.Pro1913Ala) | |
11 | g.121160225C>T | CA383028613 | TBCEL-TECTA,TECTA | c.4780C>T (p.Pro1594Ser) c.2087C>T n.716C>T c.5737C>T (p.Pro1913Ser) | |
11 | g.121160230_121160237del | CA6327564 | TBCEL-TECTA,TECTA | c.4785_4792del (p.Gln1597LeufsTer8) c.2092_2099del n.721_728del c.5742_5749del (p.Gln1916LeufsTer8) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160226C>A | CA6327565 | TBCEL-TECTA,TECTA | c.4781C>A (p.Pro1594Gln) c.2088C>A n.717C>A c.5738C>A (p.Pro1913Gln) | dbSNP ExAC gnomAD v2 |
11 | g.121160226C= | CA2004739219 | TBCEL-TECTA,TECTA | c.4781C= (p.Pro1594=) c.2088C= n.717C= c.5738C= (p.Pro1913=) | |
11 | g.121160226C>G | CA383028617 | TBCEL-TECTA,TECTA | c.4781C>G (p.Pro1594Arg) c.2088C>G n.717C>G c.5738C>G (p.Pro1913Arg) | |
11 | g.121160226C>T | CA383028619 | TBCEL-TECTA,TECTA | c.4781C>T (p.Pro1594Leu) c.2088C>T n.717C>T c.5738C>T (p.Pro1913Leu) | |
11 | g.121160227A>C | CA477383212 | TBCEL-TECTA,TECTA | c.4782A>C (p.Pro1594=) c.2089A>C n.718A>C c.5739A>C (p.Pro1913=) | |
11 | g.121160227A>G | CA477383215 | TBCEL-TECTA,TECTA | c.4782A>G (p.Pro1594=) c.2089A>G n.718A>G c.5739A>G (p.Pro1913=) | gnomAD v4 |
11 | g.121160227A>T | CA477383213 | TBCEL-TECTA,TECTA | c.4782A>T (p.Pro1594=) c.2089A>T n.718A>T c.5739A>T (p.Pro1913=) | |
11 | g.121160228G>A | CA383028625 | TBCEL-TECTA,TECTA | c.4783G>A (p.Asp1595Asn) c.2090G>A n.719G>A c.5740G>A (p.Asp1914Asn) | |
11 | g.121160228G>C | CA383028626 | TBCEL-TECTA,TECTA | c.4783G>C (p.Asp1595His) c.2090G>C n.719G>C c.5740G>C (p.Asp1914His) | |
11 | g.121160228G>T | CA383028629 | TBCEL-TECTA,TECTA | c.4783G>T (p.Asp1595Tyr) c.2090G>T n.719G>T c.5740G>T (p.Asp1914Tyr) | |
11 | g.121160228_121160229delinsGA | CA2004739221 | TBCEL-TECTA,TECTA | c.4783_4784delinsGA (p.Asp1595=) c.2090_2091delinsGA n.719_720delinsGA c.5740_5741delinsGA (p.Asp1914=) | |
11 | g.121160229del | CA602580299 | TBCEL-TECTA,TECTA | c.4784del (p.Asp1595AlafsTer?) c.2091del n.720del c.5741del (p.Asp1914AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121160229A>C | CA383028640 | TBCEL-TECTA,TECTA | c.4784A>C (p.Asp1595Ala) c.2091A>C n.720A>C c.5741A>C (p.Asp1914Ala) | |
11 | g.121160229A>G | CA383028635 | TBCEL-TECTA,TECTA | c.4784A>G (p.Asp1595Gly) c.2091A>G n.720A>G c.5741A>G (p.Asp1914Gly) | |
11 | g.121160229A>T | CA383028632 | TBCEL-TECTA,TECTA | c.4784A>T (p.Asp1595Val) c.2091A>T n.720A>T c.5741A>T (p.Asp1914Val) | |
11 | g.121160230C>A | CA383028643 | TBCEL-TECTA,TECTA | c.4785C>A (p.Asp1595Glu) c.2092C>A n.721C>A c.5742C>A (p.Asp1914Glu) | |
11 | g.121160230C>G | CA383028650 | TBCEL-TECTA,TECTA | c.4785C>G (p.Asp1595Glu) c.2092C>G n.721C>G c.5742C>G (p.Asp1914Glu) | |
11 | g.121160230C>T | CA477383217 | TBCEL-TECTA,TECTA | c.4785C>T (p.Asp1595=) c.2092C>T n.721C>T c.5742C>T (p.Asp1914=) | gnomAD v4 |
11 | g.121160231A>C | CA383028652 | TBCEL-TECTA,TECTA | c.4786A>C (p.Ile1596Leu) c.2093A>C n.722A>C c.5743A>C (p.Ile1915Leu) | |
11 | g.121160231A>G | CA383028653 | TBCEL-TECTA,TECTA | c.4786A>G (p.Ile1596Val) c.2093A>G n.722A>G c.5743A>G (p.Ile1915Val) | gnomAD v4 |
11 | g.121160231A>T | CA383028657 | TBCEL-TECTA,TECTA | c.4786A>T (p.Ile1596Phe) c.2093A>T n.722A>T c.5743A>T (p.Ile1915Phe) | |
11 | g.121160232T>A | CA383028661 | TBCEL-TECTA,TECTA | c.4787T>A (p.Ile1596Asn) c.2094T>A n.723T>A c.5744T>A (p.Ile1915Asn) | |
11 | g.121160232T>C | CA383028663 | TBCEL-TECTA,TECTA | c.4787T>C (p.Ile1596Thr) c.2094T>C n.723T>C c.5744T>C (p.Ile1915Thr) | gnomAD v4 |
11 | g.121160232T>G | CA383028666 | TBCEL-TECTA,TECTA | c.4787T>G (p.Ile1596Ser) c.2094T>G n.723T>G c.5744T>G (p.Ile1915Ser) | |
11 | g.121160233C>A | CA477383218 | TBCEL-TECTA,TECTA | c.4788C>A (p.Ile1596=) c.2095C>A n.724C>A c.5745C>A (p.Ile1915=) | |
11 | g.121160233C= | CA2004739225 | TBCEL-TECTA,TECTA | c.4788C= (p.Ile1596=) c.2095C= n.724C= c.5745C= (p.Ile1915=) | |
11 | g.121160233C>G | CA383028671 | TBCEL-TECTA,TECTA | c.4788C>G (p.Ile1596Met) c.2095C>G n.724C>G c.5745C>G (p.Ile1915Met) | |
11 | g.121160233C>T | CA178108 | TBCEL-TECTA,TECTA | c.4788C>T (p.Ile1596=) c.2095C>T n.724C>T c.5745C>T (p.Ile1915=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160234C>A | CA383028673 | TBCEL-TECTA,TECTA | c.4789C>A (p.Gln1597Lys) c.2096C>A n.725C>A c.5746C>A (p.Gln1916Lys) | |
11 | g.121160234C= | CA2004739229 | TBCEL-TECTA,TECTA | c.4789C= (p.Gln1597=) c.2096C= n.725C= c.5746C= (p.Gln1916=) | |
11 | g.121160234C>G | CA383028675 | TBCEL-TECTA,TECTA | c.4789C>G (p.Gln1597Glu) c.2096C>G n.725C>G c.5746C>G (p.Gln1916Glu) | dbSNP |
11 | g.121160234C>T | CA383028677 | TBCEL-TECTA,TECTA | c.4789C>T (p.Gln1597Ter) c.2096C>T n.725C>T c.5746C>T (p.Gln1916Ter) | |
11 | g.121160235A>C | CA383028682 | TBCEL-TECTA,TECTA | c.4790A>C (p.Gln1597Pro) c.2097A>C n.726A>C c.5747A>C (p.Gln1916Pro) | |
11 | g.121160235A>G | CA383028684 | TBCEL-TECTA,TECTA | c.4790A>G (p.Gln1597Arg) c.2097A>G n.726A>G c.5747A>G (p.Gln1916Arg) | |
11 | g.121160235A>T | CA383028681 | TBCEL-TECTA,TECTA | c.4790A>T (p.Gln1597Leu) c.2097A>T n.726A>T c.5747A>T (p.Gln1916Leu) | |
11 | g.121160236G>A | CA477383220 | TBCEL-TECTA,TECTA | c.4791G>A (p.Gln1597=) c.2098G>A n.727G>A c.5748G>A (p.Gln1916=) | |
11 | g.121160236G>C | CA6327566 | TBCEL-TECTA,TECTA | c.4791G>C (p.Gln1597His) c.2098G>C n.727G>C c.5748G>C (p.Gln1916His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160236G= | CA2004739231 | TBCEL-TECTA,TECTA | c.4791G= (p.Gln1597=) c.2098G= n.727G= c.5748G= (p.Gln1916=) | |
11 | g.121160236G>T | CA383028687 | TBCEL-TECTA,TECTA | c.4791G>T (p.Gln1597His) c.2098G>T n.727G>T c.5748G>T (p.Gln1916His) | |
11 | g.121160237A>C | CA383028689 | TBCEL-TECTA,TECTA | c.4792A>C (p.Ile1598Leu) c.2099A>C n.728A>C c.5749A>C (p.Ile1917Leu) | |
11 | g.121160237A>G | CA383028694 | TBCEL-TECTA,TECTA | c.4792A>G (p.Ile1598Val) c.2099A>G n.728A>G c.5749A>G (p.Ile1917Val) | |
11 | g.121160237A>T | CA383028692 | TBCEL-TECTA,TECTA | c.4792A>T (p.Ile1598Leu) c.2099A>T n.728A>T c.5749A>T (p.Ile1917Leu) | |
11 | g.121160238T>A | CA383028696 | TBCEL-TECTA,TECTA | c.4793T>A (p.Ile1598Lys) c.2100T>A n.729T>A c.5750T>A (p.Ile1917Lys) | |
11 | g.121160238T>C | CA383028698 | TBCEL-TECTA,TECTA | c.4793T>C (p.Ile1598Thr) c.2100T>C n.729T>C c.5750T>C (p.Ile1917Thr) | |
11 | g.121160238T>G | CA383028700 | TBCEL-TECTA,TECTA | c.4793T>G (p.Ile1598Arg) c.2100T>G n.729T>G c.5750T>G (p.Ile1917Arg) |