Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |