Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121146072C>A | CA383023144 | TBCEL-TECTA,TECTA | c.4061C>A (p.Thr1354Asn) c.1368C>A n.626C>A c.5018C>A (p.Thr1673Asn) | |
11 | g.121146072C= | CA2004737650 | TBCEL-TECTA,TECTA | c.4061C= (p.Thr1354=) c.1368C= n.626C= c.5018C= (p.Thr1673=) | |
11 | g.121146072C>G | CA10630126 | TBCEL-TECTA,TECTA | c.4061C>G (p.Thr1354Ser) c.1368C>G n.626C>G c.5018C>G (p.Thr1673Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.121146072C>T | CA6327345 | TBCEL-TECTA,TECTA | c.4061C>T (p.Thr1354Ile) c.1368C>T n.626C>T c.5018C>T (p.Thr1673Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146073T>A | CA477383225 | TBCEL-TECTA,TECTA | c.4062T>A (p.Thr1354=) c.1369T>A n.627T>A c.5019T>A (p.Thr1673=) | |
11 | g.121146073T>C | CA477383226 | TBCEL-TECTA,TECTA | c.4062T>C (p.Thr1354=) c.1369T>C n.627T>C c.5019T>C (p.Thr1673=) | gnomAD v4 |
11 | g.121146073T>G | CA477383228 | TBCEL-TECTA,TECTA | c.4062T>G (p.Thr1354=) c.1369T>G n.627T>G c.5019T>G (p.Thr1673=) | |
11 | g.121146074C>A | CA383023150 | TBCEL-TECTA,TECTA | c.4063C>A (p.Gln1355Lys) c.1370C>A n.628C>A c.5020C>A (p.Gln1674Lys) | |
11 | g.121146074C>G | CA383023148 | TBCEL-TECTA,TECTA | c.4063C>G (p.Gln1355Glu) c.1370C>G n.628C>G c.5020C>G (p.Gln1674Glu) | |
11 | g.121146074C>T | CA383023147 | TBCEL-TECTA,TECTA | c.4063C>T (p.Gln1355Ter) c.1370C>T n.628C>T c.5020C>T (p.Gln1674Ter) | |
11 | g.121146074_121146076delinsCAG | CA2004737651 | TBCEL-TECTA,TECTA | c.4063_4065delinsCAG (p.Gln1355=) c.1370_1372delinsCAG n.628_630delinsCAG c.5020_5022delinsCAG (p.Gln1674=) | |
11 | g.121146075A>C | CA383023152 | TBCEL-TECTA,TECTA | c.4064A>C (p.Gln1355Pro) c.1371A>C n.629A>C c.5021A>C (p.Gln1674Pro) | |
11 | g.121146075A>G | CA383023155 | TBCEL-TECTA,TECTA | c.4064A>G (p.Gln1355Arg) c.1371A>G n.629A>G c.5021A>G (p.Gln1674Arg) | |
11 | g.121146075A>T | CA383023157 | TBCEL-TECTA,TECTA | c.4064A>T (p.Gln1355Leu) c.1371A>T n.629A>T c.5021A>T (p.Gln1674Leu) | |
11 | g.121146075_121146076del | CA6327346 | TBCEL-TECTA,TECTA | c.4064_4065del (p.Gln1355ArgfsTer?) c.1371_1372del n.629_630del c.5021_5022del (p.Gln1674ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121146076G>A | CA477383233 | TBCEL-TECTA,TECTA | c.4065G>A (p.Gln1355=) c.1372G>A n.1G>A n.630G>A c.5022G>A (p.Gln1674=) | |
11 | g.121146076G>C | CA383023164 | TBCEL-TECTA,TECTA | c.4065G>C (p.Gln1355His) c.1372G>C n.1G>C n.630G>C c.5022G>C (p.Gln1674His) | |
11 | g.121146076G>T | CA383023166 | TBCEL-TECTA,TECTA | c.4065G>T (p.Gln1355His) c.1372G>T n.1G>T n.630G>T c.5022G>T (p.Gln1674His) | |
11 | g.121146077G>A | CA383023168 | TBCEL-TECTA,TECTA | c.4066G>A (p.Gly1356Arg) c.1373G>A n.2G>A n.631G>A c.5023G>A (p.Gly1675Arg) | gnomAD v4 |
11 | g.121146077G>C | CA383023169 | TBCEL-TECTA,TECTA | c.4066G>C (p.Gly1356Arg) c.1373G>C n.2G>C n.631G>C c.5023G>C (p.Gly1675Arg) | |
11 | g.121146077G>T | CA383023171 | TBCEL-TECTA,TECTA | c.4066G>T (p.Gly1356Trp) c.1373G>T n.2G>T n.631G>T c.5023G>T (p.Gly1675Trp) | |
11 | g.121146078G>A | CA178100 | TBCEL-TECTA,TECTA | c.4067G>A (p.Gly1356Glu) c.1374G>A n.3G>A n.632G>A c.5024G>A (p.Gly1675Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146078G>C | CA383023174 | TBCEL-TECTA,TECTA | c.4067G>C (p.Gly1356Ala) c.1374G>C n.3G>C n.632G>C c.5024G>C (p.Gly1675Ala) | |
11 | g.121146078G= | CA2004737652 | TBCEL-TECTA,TECTA | c.4067G= (p.Gly1356=) c.1374G= n.3G= n.632G= c.5024G= (p.Gly1675=) | |
11 | g.121146078G>T | CA383023176 | TBCEL-TECTA,TECTA | c.4067G>T (p.Gly1356Val) c.1374G>T n.3G>T n.632G>T c.5024G>T (p.Gly1675Val) | gnomAD v4 |
11 | g.121146079G>A | CA477383241 | TBCEL-TECTA,TECTA | c.4068G>A (p.Gly1356=) c.1375G>A n.4G>A n.633G>A c.5025G>A (p.Gly1675=) | |
11 | g.121146079G>C | CA477383242 | TBCEL-TECTA,TECTA | c.4068G>C (p.Gly1356=) c.1375G>C n.4G>C n.633G>C c.5025G>C (p.Gly1675=) | |
11 | g.121146079G= | CA2004737653 | TBCEL-TECTA,TECTA | c.4068G= (p.Gly1356=) c.1375G= n.4G= n.633G= c.5025G= (p.Gly1675=) | |
11 | g.121146079G>T | CA477383243 | TBCEL-TECTA,TECTA | c.4068G>T (p.Gly1356=) c.1375G>T n.4G>T n.633G>T c.5025G>T (p.Gly1675=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146080A>C | CA383023183 | TBCEL-TECTA,TECTA | c.4069A>C (p.Ile1357Leu) c.1376A>C n.5A>C n.634A>C c.5026A>C (p.Ile1676Leu) | |
11 | g.121146080A>G | CA383023178 | TBCEL-TECTA,TECTA | c.4069A>G (p.Ile1357Val) c.1376A>G n.5A>G n.634A>G c.5026A>G (p.Ile1676Val) | |
11 | g.121146080A>T | CA383023182 | TBCEL-TECTA,TECTA | c.4069A>T (p.Ile1357Phe) c.1376A>T n.5A>T n.634A>T c.5026A>T (p.Ile1676Phe) | |
11 | g.121146081T>A | CA383023187 | TBCEL-TECTA,TECTA | c.4070T>A (p.Ile1357Asn) c.1377T>A n.6T>A n.635T>A c.5027T>A (p.Ile1676Asn) | |
11 | g.121146081T>C | CA383023191 | TBCEL-TECTA,TECTA | c.4070T>C (p.Ile1357Thr) c.1377T>C n.6T>C n.635T>C c.5027T>C (p.Ile1676Thr) | |
11 | g.121146081T>G | CA383023190 | TBCEL-TECTA,TECTA | c.4070T>G (p.Ile1357Ser) c.1377T>G n.6T>G n.635T>G c.5027T>G (p.Ile1676Ser) | |
11 | g.121146082T>A | CA477383245 | TBCEL-TECTA,TECTA | c.4071T>A (p.Ile1357=) c.1378T>A n.7T>A n.636T>A c.5028T>A (p.Ile1676=) | |
11 | g.121146082T>C | CA477383247 | TBCEL-TECTA,TECTA | c.4071T>C (p.Ile1357=) c.1378T>C n.7T>C n.636T>C c.5028T>C (p.Ile1676=) | |
11 | g.121146082T>G | CA383023193 | TBCEL-TECTA,TECTA | c.4071T>G (p.Ile1357Met) c.1378T>G n.7T>G n.636T>G c.5028T>G (p.Ile1676Met) | |
11 | g.121146082_121146085dup | CA2616488613 | TBCEL-TECTA,TECTA | c.4071_4074dup (p.Val1359TyrfsTer?) c.1378_1381dup n.7_10dup n.636_639dup c.5028_5031dup (p.Val1678TyrfsTer?) | gnomAD v4 |
11 | g.121146083A= | CA2004737654 | TBCEL-TECTA,TECTA | c.4072A= (p.Thr1358=) c.1379A= n.8A= n.637A= c.5029A= (p.Thr1677=) | |
11 | g.121146083A>C | CA383023200 | TBCEL-TECTA,TECTA | c.4072A>C (p.Thr1358Pro) c.1379A>C n.8A>C n.637A>C c.5029A>C (p.Thr1677Pro) | |
11 | g.121146083A>G | CA6327347 | TBCEL-TECTA,TECTA | c.4072A>G (p.Thr1358Ala) c.1379A>G n.8A>G n.637A>G c.5029A>G (p.Thr1677Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146083A>T | CA383023202 | TBCEL-TECTA,TECTA | c.4072A>T (p.Thr1358Ser) c.1379A>T n.8A>T n.637A>T c.5029A>T (p.Thr1677Ser) | gnomAD v4 |
11 | g.121146084C>A | CA383023204 | TBCEL-TECTA,TECTA | c.4073C>A (p.Thr1358Lys) c.1380C>A n.9C>A n.638C>A c.5030C>A (p.Thr1677Lys) | |
11 | g.121146084C= | CA2004737655 | TBCEL-TECTA,TECTA | c.4073C= (p.Thr1358=) c.1380C= n.9C= n.638C= c.5030C= (p.Thr1677=) | |
11 | g.121146084C>G | CA383023207 | TBCEL-TECTA,TECTA | c.4073C>G (p.Thr1358Arg) c.1380C>G n.9C>G n.638C>G c.5030C>G (p.Thr1677Arg) | |
11 | g.121146084C>T | CA6327348 | TBCEL-TECTA,TECTA | c.4073C>T (p.Thr1358Met) c.1380C>T n.9C>T n.638C>T c.5030C>T (p.Thr1677Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146085G>A | CA136046 | TBCEL-TECTA,TECTA | c.4074G>A (p.Thr1358=) c.1381G>A n.10G>A n.639G>A c.5031G>A (p.Thr1677=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146085G>C | CA477383254 | TBCEL-TECTA,TECTA | c.4074G>C (p.Thr1358=) c.1381G>C n.10G>C n.639G>C c.5031G>C (p.Thr1677=) | |
11 | g.121146085G= | CA2004737656 | TBCEL-TECTA,TECTA | c.4074G= (p.Thr1358=) c.1381G= n.10G= n.639G= c.5031G= (p.Thr1677=) |