Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.144186700G>A | CA365948477 | STX11 | c.73G>A (p.Glu25Lys) c.151G>A (p.Glu51Lys) | |
6 | g.144186700G>C | CA365948475 | STX11 | c.73G>C (p.Glu25Gln) c.151G>C (p.Glu51Gln) | |
6 | g.144186700G= | CA1669582456 | STX11 | c.73G= (p.Glu25=) c.151G= (p.Glu51=) | |
6 | g.144186700G>T | CA365948476 | STX11 | c.73G>T (p.Glu25Ter) c.151G>T (p.Glu51Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.144186701A= | CA1669582457 | STX11 | c.74A= (p.Glu25=) c.152A= (p.Glu51=) | |
6 | g.144186701A>C | CA365948478 | STX11 | c.74A>C (p.Glu25Ala) c.152A>C (p.Glu51Ala) | |
6 | g.144186701A>G | CA149823919 | STX11 | c.74A>G (p.Glu25Gly) c.152A>G (p.Glu51Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186701A>T | CA365948479 | STX11 | c.74A>T (p.Glu25Val) c.152A>T (p.Glu51Val) | |
6 | g.144186702G>A | CA452707648 | STX11 | c.75G>A (p.Glu25=) c.153G>A (p.Glu51=) | |
6 | g.144186702G>C | CA365948480 | STX11 | c.75G>C (p.Glu25Asp) c.153G>C (p.Glu51Asp) | |
6 | g.144186702G>T | CA365948481 | STX11 | c.75G>T (p.Glu25Asp) c.153G>T (p.Glu51Asp) | |
6 | g.144186703T>A | CA4031611 | STX11 | c.76T>A (p.Phe26Ile) c.154T>A (p.Phe52Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186703T>C | CA365948482 | STX11 | c.76T>C (p.Phe26Leu) c.154T>C (p.Phe52Leu) | |
6 | g.144186703T>G | CA365948483 | STX11 | c.76T>G (p.Phe26Val) c.154T>G (p.Phe52Val) | |
6 | g.144186703T= | CA1669582458 | STX11 | c.76T= (p.Phe26=) c.154T= (p.Phe52=) | |
6 | g.144186704T>A | CA365948484 | STX11 | c.77T>A (p.Phe26Tyr) c.155T>A (p.Phe52Tyr) | |
6 | g.144186704T>C | CA365948485 | STX11 | c.77T>C (p.Phe26Ser) c.155T>C (p.Phe52Ser) | gnomAD v4 |
6 | g.144186704T>G | CA365948486 | STX11 | c.77T>G (p.Phe26Cys) c.155T>G (p.Phe52Cys) | |
6 | g.144186705T>A | CA365948487 | STX11 | c.78T>A (p.Phe26Leu) c.156T>A (p.Phe52Leu) | |
6 | g.144186705T>C | CA452707649 | STX11 | c.78T>C (p.Phe26=) c.156T>C (p.Phe52=) | |
6 | g.144186705T>G | CA365948488 | STX11 | c.78T>G (p.Phe26Leu) c.156T>G (p.Phe52Leu) | |
6 | g.144186706G>A | CA365948489 | STX11 | c.79G>A (p.Asp27Asn) c.157G>A (p.Asp53Asn) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.144186706G>C | CA365948490 | STX11 | c.79G>C (p.Asp27His) c.157G>C (p.Asp53His) | |
6 | g.144186706G= | CA1669582459 | STX11 | c.79G= (p.Asp27=) c.157G= (p.Asp53=) | |
6 | g.144186706G>T | CA365948491 | STX11 | c.79G>T (p.Asp27Tyr) c.157G>T (p.Asp53Tyr) | |
6 | g.144186707A>C | CA365948492 | STX11 | c.80A>C (p.Asp27Ala) c.158A>C (p.Asp53Ala) | |
6 | g.144186707A>G | CA365948493 | STX11 | c.80A>G (p.Asp27Gly) c.158A>G (p.Asp53Gly) | |
6 | g.144186707A>T | CA365948494 | STX11 | c.80A>T (p.Asp27Val) c.158A>T (p.Asp53Val) | |
6 | g.144186708C>A | CA365948495 | STX11 | c.81C>A (p.Asp27Glu) c.159C>A (p.Asp53Glu) | |
6 | g.144186708C= | CA1669582460 | STX11 | c.81C= (p.Asp27=) c.159C= (p.Asp53=) | |
6 | g.144186708C>G | CA365948496 | STX11 | c.81C>G (p.Asp27Glu) c.159C>G (p.Asp53Glu) | dbSNP gnomAD v4 |
6 | g.144186708C>T | CA452707651 | STX11 | c.81C>T (p.Asp27=) c.159C>T (p.Asp53=) | |
6 | g.144186709T>A | CA365948497 | STX11 | c.82T>A (p.Ser28Thr) c.160T>A (p.Ser54Thr) | |
6 | g.144186709T>C | CA365948499 | STX11 | c.82T>C (p.Ser28Pro) c.160T>C (p.Ser54Pro) | |
6 | g.144186709T>G | CA365948498 | STX11 | c.82T>G (p.Ser28Ala) c.160T>G (p.Ser54Ala) | |
6 | g.144186710C>A | CA4031613 | STX11 | c.83C>A (p.Ser28Ter) c.161C>A (p.Ser54Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.144186710C= | CA1669582461 | STX11 | c.83C= (p.Ser28=) c.161C= (p.Ser54=) | |
6 | g.144186710C>G | CA365948500 | STX11 | c.83C>G (p.Ser28Trp) c.161C>G (p.Ser54Trp) | COSMIC |
6 | g.144186710C>T | CA4031612 | STX11 | c.83C>T (p.Ser28Leu) c.161C>T (p.Ser54Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186711G>A | CA452707652 | STX11 | c.84G>A (p.Ser28=) c.162G>A (p.Ser54=) | dbSNP gnomAD v4 |
6 | g.144186711G>C | CA452707653 | STX11 | c.84G>C (p.Ser28=) c.162G>C (p.Ser54=) | |
6 | g.144186711G= | CA1669582462 | STX11 | c.84G= (p.Ser28=) c.162G= (p.Ser54=) | |
6 | g.144186711G>T | CA452707654 | STX11 | c.84G>T (p.Ser28=) c.162G>T (p.Ser54=) | |
6 | g.144186712C>A | CA365948501 | STX11 | c.85C>A (p.Pro29Thr) c.163C>A (p.Pro55Thr) | COSMIC |
6 | g.144186712C>G | CA365948502 | STX11 | c.85C>G (p.Pro29Ala) c.163C>G (p.Pro55Ala) | |
6 | g.144186712C>T | CA365948503 | STX11 | c.85C>T (p.Pro29Ser) c.163C>T (p.Pro55Ser) | |
6 | g.144186715dup | CA149823920 | STX11 | c.88dup (p.His30ProfsTer25) c.166dup (p.His56ProfsTer25) | dbSNP |
6 | g.144186713C>A | CA365948504 | STX11 | c.86C>A (p.Pro29His) c.164C>A (p.Pro55His) | |
6 | g.144186713C= | CA1669582463 | STX11 | c.86C= (p.Pro29=) c.164C= (p.Pro55=) | |
6 | g.144186713C>G | CA365948505 | STX11 | c.86C>G (p.Pro29Arg) c.164C>G (p.Pro55Arg) |