| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.144186690C>A | CA149823917 | STX11 | c.63C>A (p.Asp21Glu) c.141C>A (p.Asp47Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186690C= | CA1669582448 | STX11 | c.63C= (p.Asp21=) c.141C= (p.Asp47=) | |
| 6 | g.144186690C>G | CA4031607 | STX11 | c.63C>G (p.Asp21Glu) c.141C>G (p.Asp47Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186690C>T | CA10623067 | STX11 | c.63C>T (p.Asp21=) c.141C>T (p.Asp47=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.144186691G>A | CA365948458 | STX11 | c.64G>A (p.Gly22Arg) c.142G>A (p.Gly48Arg) | |
| 6 | g.144186691G>C | CA149823918 | STX11 | c.64G>C (p.Gly22Arg) c.142G>C (p.Gly48Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186691G= | CA1669582450 | STX11 | c.64G= (p.Gly22=) c.142G= (p.Gly48=) | |
| 6 | g.144186691G>T | CA365948457 | STX11 | c.64G>T (p.Gly22Trp) c.142G>T (p.Gly48Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186691_144186696delinsGGGGAC | CA1669582449 | STX11 | c.64_69delinsGGGGAC (p.Gly22=) c.142_147delinsGGGGAC (p.Gly48=) | |
| 6 | g.144186692G>A | CA365948459 | STX11 | c.65G>A (p.Gly22Glu) c.143G>A (p.Gly48Glu) | gnomAD v4 |
| 6 | g.144186692G>C | CA365948460 | STX11 | c.65G>C (p.Gly22Ala) c.143G>C (p.Gly48Ala) | |
| 6 | g.144186692G>T | CA365948461 | STX11 | c.65G>T (p.Gly22Val) c.143G>T (p.Gly48Val) | |
| 6 | g.144186693_144186697del | CA820185587 | STX11 | c.66_70del (p.Asp23Ter) c.144_148del (p.Asp49Ter) | dbSNP |
| 6 | g.144186693G>A | CA452707643 | STX11 | c.66G>A (p.Gly22=) c.144G>A (p.Gly48=) | |
| 6 | g.144186693G>C | CA452707644 | STX11 | c.66G>C (p.Gly22=) c.144G>C (p.Gly48=) | |
| 6 | g.144186693G>T | CA452707645 | STX11 | c.66G>T (p.Gly22=) c.144G>T (p.Gly48=) | |
| 6 | g.144186694G>A | CA4031608 | STX11 | c.67G>A (p.Asp23Asn) c.145G>A (p.Asp49Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186694G>C | CA365948462 | STX11 | c.67G>C (p.Asp23His) c.145G>C (p.Asp49His) | gnomAD v4 |
| 6 | g.144186694G= | CA1669582451 | STX11 | c.67G= (p.Asp23=) c.145G= (p.Asp49=) | |
| 6 | g.144186694G>T | CA365948463 | STX11 | c.67G>T (p.Asp23Tyr) c.145G>T (p.Asp49Tyr) | gnomAD v4 |
| 6 | g.144186695A= | CA1669582452 | STX11 | c.68A= (p.Asp23=) c.146A= (p.Asp49=) | |
| 6 | g.144186695A>C | CA365948464 | STX11 | c.68A>C (p.Asp23Ala) c.146A>C (p.Asp49Ala) | |
| 6 | g.144186695A>G | CA365948465 | STX11 | c.68A>G (p.Asp23Gly) c.146A>G (p.Asp49Gly) | |
| 6 | g.144186695A>T | CA4031609 | STX11 | c.68A>T (p.Asp23Val) c.146A>T (p.Asp49Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186696C>A | CA365948466 | STX11 | c.69C>A (p.Asp23Glu) c.147C>A (p.Asp49Glu) | |
| 6 | g.144186696C= | CA1669582453 | STX11 | c.69C= (p.Asp23=) c.147C= (p.Asp49=) | |
| 6 | g.144186696C>G | CA365948467 | STX11 | c.69C>G (p.Asp23Glu) c.147C>G (p.Asp49Glu) | |
| 6 | g.144186696C>T | CA452707646 | STX11 | c.69C>T (p.Asp23=) c.147C>T (p.Asp49=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186697G>A | CA4031610 | STX11 | c.70G>A (p.Asp24Asn) c.148G>A (p.Asp50Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186697G>C | CA365948469 | STX11 | c.70G>C (p.Asp24His) c.148G>C (p.Asp50His) | |
| 6 | g.144186697G= | CA1669582454 | STX11 | c.70G= (p.Asp24=) c.148G= (p.Asp50=) | |
| 6 | g.144186697G>T | CA365948468 | STX11 | c.70G>T (p.Asp24Tyr) c.148G>T (p.Asp50Tyr) | |
| 6 | g.144186698A>C | CA365948470 | STX11 | c.71A>C (p.Asp24Ala) c.149A>C (p.Asp50Ala) | |
| 6 | g.144186698A>G | CA365948471 | STX11 | c.71A>G (p.Asp24Gly) c.149A>G (p.Asp50Gly) | gnomAD v4 |
| 6 | g.144186698A>T | CA365948472 | STX11 | c.71A>T (p.Asp24Val) c.149A>T (p.Asp50Val) | |
| 6 | g.144186699T>A | CA365948473 | STX11 | c.72T>A (p.Asp24Glu) c.150T>A (p.Asp50Glu) | |
| 6 | g.144186699T>C | CA452707647 | STX11 | c.72T>C (p.Asp24=) c.150T>C (p.Asp50=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186699T>G | CA365948474 | STX11 | c.72T>G (p.Asp24Glu) c.150T>G (p.Asp50Glu) | |
| 6 | g.144186699T= | CA1669582455 | STX11 | c.72T= (p.Asp24=) c.150T= (p.Asp50=) | |
| 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) | |
| 6 | g.144186713C>T | CA365948506 | STX11 | c.86C>T (p.Pro29Leu) c.164C>T (p.Pro55Leu) | dbSNP |
| 6 | g.144186714C>A | CA452707655 | STX11 | c.87C>A (p.Pro29=) c.165C>A (p.Pro55=) | |
| 6 | g.144186714C>G | CA452707656 | STX11 | c.87C>G (p.Pro29=) c.165C>G (p.Pro55=) | |
| 6 | g.144186714C>T | CA452707657 | STX11 | c.87C>T (p.Pro29=) c.165C>T (p.Pro55=) | ClinVar |
| 6 | g.144186715C>A | CA365948507 | STX11 | c.88C>A (p.His30Asn) c.166C>A (p.His56Asn) | |
| 6 | g.144186715C= | CA1669582464 | STX11 | c.88C= (p.His30=) c.166C= (p.His56=) | |
| 6 | g.144186715C>G | CA365948508 | STX11 | c.88C>G (p.His30Asp) c.166C>G (p.His56Asp) | gnomAD v4 |
| 6 | g.144186715C>T | CA4031614 | STX11 | c.88C>T (p.His30Tyr) c.166C>T (p.His56Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.144186716A>C | CA365948511 | STX11 | c.89A>C (p.His30Pro) c.167A>C (p.His56Pro) | |
| 6 | g.144186716A>G | CA365948510 | STX11 | c.89A>G (p.His30Arg) c.167A>G (p.His56Arg) | dbSNP |
| 6 | g.144186716A>T | CA365948509 | STX11 | c.89A>T (p.His30Leu) c.167A>T (p.His56Leu) | |
| 6 | g.144186717C>A | CA4031616 | STX11 | c.90C>A (p.His30Gln) c.168C>A (p.His56Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186717C= | CA1669582465 | STX11 | c.90C= (p.His30=) c.168C= (p.His56=) | |
| 6 | g.144186717C>G | CA365948512 | STX11 | c.90C>G (p.His30Gln) c.168C>G (p.His56Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186717C>T | CA4031615 | STX11 | c.90C>T (p.His30=) c.168C>T (p.His56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186718G>A | CA4031617 | STX11 | c.91G>A (p.Glu31Lys) c.169G>A (p.Glu57Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186718G>C | CA149823921 | STX11 | c.91G>C (p.Glu31Gln) c.169G>C (p.Glu57Gln) | dbSNP |
| 6 | g.144186718G= | CA1669582466 | STX11 | c.91G= (p.Glu31=) c.169G= (p.Glu57=) | |
| 6 | g.144186718G>T | CA365948513 | STX11 | c.91G>T (p.Glu31Ter) c.169G>T (p.Glu57Ter) | |
| 6 | g.144186719A>C | CA365948514 | STX11 | c.92A>C (p.Glu31Ala) c.170A>C (p.Glu57Ala) | |
| 6 | g.144186719A>G | CA365948515 | STX11 | c.92A>G (p.Glu31Gly) c.170A>G (p.Glu57Gly) | |
| 6 | g.144186719A>T | CA365948516 | STX11 | c.92A>T (p.Glu31Val) c.170A>T (p.Glu57Val) | |
| 6 | g.144186720G>A | CA4031618 | STX11 | c.93G>A (p.Glu31=) c.171G>A (p.Glu57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186720G>C | CA365948517 | STX11 | c.93G>C (p.Glu31Asp) c.171G>C (p.Glu57Asp) | |
| 6 | g.144186720G= | CA1669582467 | STX11 | c.93G= (p.Glu31=) c.171G= (p.Glu57=) | |
| 6 | g.144186720G>T | CA365948518 | STX11 | c.93G>T (p.Glu31Asp) c.171G>T (p.Glu57Asp) | |
| 6 | g.144186720_144186726delinsGGACATC | CA1669582468 | STX11 | c.93_99delinsGGACATC (p.Glu31=) c.171_177delinsGGACATC (p.Glu57=) | |
| 6 | g.144186721G>A | CA365948521 | STX11 | c.94G>A (p.Asp32Asn) c.172G>A (p.Asp58Asn) | gnomAD v4 |
| 6 | g.144186721G>C | CA365948520 | STX11 | c.94G>C (p.Asp32His) c.172G>C (p.Asp58His) | |
| 6 | g.144186721G>T | CA365948519 | STX11 | c.94G>T (p.Asp32Tyr) c.172G>T (p.Asp58Tyr) | |
| 6 | g.144186722_144186727del | CA820185658 | STX11 | c.95_100del (p.Asp32_Ile33del) c.173_178del (p.Asp58_Ile59del) | dbSNP |
| 6 | g.144186722A= | CA1669582469 | STX11 | c.95A= (p.Asp32=) c.173A= (p.Asp58=) | |
| 6 | g.144186722A>C | CA365948522 | STX11 | c.95A>C (p.Asp32Ala) c.173A>C (p.Asp58Ala) | |
| 6 | g.144186722A>G | CA365948524 | STX11 | c.95A>G (p.Asp32Gly) c.173A>G (p.Asp58Gly) | dbSNP |
| 6 | g.144186722A>T | CA365948523 | STX11 | c.95A>T (p.Asp32Val) c.173A>T (p.Asp58Val) | |
| 6 | g.144186723C>A | CA365948525 | STX11 | c.96C>A (p.Asp32Glu) c.174C>A (p.Asp58Glu) | |
| 6 | g.144186723C>G | CA365948526 | STX11 | c.96C>G (p.Asp32Glu) c.174C>G (p.Asp58Glu) | |
| 6 | g.144186723C>T | CA452707659 | STX11 | c.96C>T (p.Asp32=) c.174C>T (p.Asp58=) | ClinVar dbSNP |
| 6 | g.144186724A= | CA1669582470 | STX11 | c.97A= (p.Ile33=) c.175A= (p.Ile59=) | |
| 6 | g.144186724A>C | CA365948527 | STX11 | c.97A>C (p.Ile33Leu) c.175A>C (p.Ile59Leu) | |
| 6 | g.144186724A>G | CA365948528 | STX11 | c.97A>G (p.Ile33Val) c.175A>G (p.Ile59Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186724A>T | CA365948529 | STX11 | c.97A>T (p.Ile33Phe) c.175A>T (p.Ile59Phe) | |
| 6 | g.144186725T>A | CA365948530 | STX11 | c.98T>A (p.Ile33Asn) c.176T>A (p.Ile59Asn) | |
| 6 | g.144186725T>C | CA365948531 | STX11 | c.98T>C (p.Ile33Thr) c.176T>C (p.Ile59Thr) | |
| 6 | g.144186725T>G | CA365948532 | STX11 | c.98T>G (p.Ile33Ser) c.176T>G (p.Ile59Ser) | |
| 6 | g.144186726C>A | CA452707661 | STX11 | c.99C>A (p.Ile33=) c.177C>A (p.Ile59=) | |
| 6 | g.144186726C= | CA1669582471 | STX11 | c.99C= (p.Ile33=) c.177C= (p.Ile59=) | |
| 6 | g.144186726C>G | CA4031619 | STX11 | c.99C>G (p.Ile33Met) c.177C>G (p.Ile59Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186726C>T | CA452707662 | STX11 | c.99C>T (p.Ile33=) c.177C>T (p.Ile59=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186727G>A | CA4031620 | STX11 | c.100G>A (p.Val34Met) c.178G>A (p.Val60Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186727G>C | CA365948533 | STX11 | c.100G>C (p.Val34Leu) c.178G>C (p.Val60Leu) | gnomAD v4 |
| 6 | g.144186727G= | CA1669582472 | STX11 | c.100G= (p.Val34=) c.178G= (p.Val60=) | |
| 6 | g.144186727G>T | CA365948534 | STX11 | c.100G>T (p.Val34Leu) c.178G>T (p.Val60Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186728T>A | CA365948537 | STX11 | c.101T>A (p.Val34Glu) c.179T>A (p.Val60Glu) | |
| 6 | g.144186728T>C | CA365948536 | STX11 | c.101T>C (p.Val34Ala) c.179T>C (p.Val60Ala) | dbSNP |
| 6 | g.144186728T>G | CA365948535 | STX11 | c.101T>G (p.Val34Gly) c.179T>G (p.Val60Gly) | |
| 6 | g.144186728T= | CA1669582473 | STX11 | c.101T= (p.Val34=) c.179T= (p.Val60=) | |
| 6 | g.144186729G>A | CA4031621 | STX11 | c.102G>A (p.Val34=) c.180G>A (p.Val60=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186729G>C | CA452707664 | STX11 | c.102G>C (p.Val34=) c.180G>C (p.Val60=) | |
| 6 | g.144186729G= | CA1669582474 | STX11 | c.102G= (p.Val34=) c.180G= (p.Val60=) | |
| 6 | g.144186729G>T | CA452707663 | STX11 | c.102G>T (p.Val34=) c.180G>T (p.Val60=) | |
| 6 | g.144186730T>A | CA365948538 | STX11 | c.103T>A (p.Phe35Ile) c.181T>A (p.Phe61Ile) | |
| 6 | g.144186730T>C | CA365948539 | STX11 | c.103T>C (p.Phe35Leu) c.181T>C (p.Phe61Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186730T>G | CA365948540 | STX11 | c.103T>G (p.Phe35Val) c.181T>G (p.Phe61Val) | |
| 6 | g.144186730T= | CA1669582475 | STX11 | c.103T= (p.Phe35=) c.181T= (p.Phe61=) | |
| 6 | g.144186731T>A | CA365948541 | STX11 | c.104T>A (p.Phe35Tyr) c.182T>A (p.Phe61Tyr) | |
| 6 | g.144186731T>C | CA365948542 | STX11 | c.104T>C (p.Phe35Ser) c.182T>C (p.Phe61Ser) | |
| 6 | g.144186731T>G | CA365948543 | STX11 | c.104T>G (p.Phe35Cys) c.182T>G (p.Phe61Cys) | |
| 6 | g.144186732C>A | CA365948544 | STX11 | c.105C>A (p.Phe35Leu) c.183C>A (p.Phe61Leu) | |
| 6 | g.144186732C= | CA1669582476 | STX11 | c.105C= (p.Phe35=) c.183C= (p.Phe61=) | |
| 6 | g.144186732C>G | CA365948545 | STX11 | c.105C>G (p.Phe35Leu) c.183C>G (p.Phe61Leu) | |
| 6 | g.144186732C>T | CA4031622 | STX11 | c.105C>T (p.Phe35=) c.183C>T (p.Phe61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186733G>A | CA365948546 | STX11 | c.106G>A (p.Glu36Lys) c.184G>A (p.Glu62Lys) | dbSNP |
| 6 | g.144186733G>C | CA4031623 | STX11 | c.106G>C (p.Glu36Gln) c.184G>C (p.Glu62Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186733G= | CA1669582477 | STX11 | c.106G= (p.Glu36=) c.184G= (p.Glu62=) | |
| 6 | g.144186733G>T | CA365948547 | STX11 | c.106G>T (p.Glu36Ter) c.184G>T (p.Glu62Ter) | gnomAD v4 |
| 6 | g.144186734A= | CA1669582478 | STX11 | c.107A= (p.Glu36=) c.185A= (p.Glu62=) | |
| 6 | g.144186734A>C | CA4031624 | STX11 | c.107A>C (p.Glu36Ala) c.185A>C (p.Glu62Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186734A>G | CA365948549 | STX11 | c.107A>G (p.Glu36Gly) c.185A>G (p.Glu62Gly) | |
| 6 | g.144186734A>T | CA365948548 | STX11 | c.107A>T (p.Glu36Val) c.185A>T (p.Glu62Val) | |
| 6 | g.144186735G>A | CA452707665 | STX11 | c.108G>A (p.Glu36=) c.186G>A (p.Glu62=) | |
| 6 | g.144186735G>C | CA365948550 | STX11 | c.108G>C (p.Glu36Asp) c.186G>C (p.Glu62Asp) | |
| 6 | g.144186735G>T | CA365948551 | STX11 | c.108G>T (p.Glu36Asp) c.186G>T (p.Glu62Asp) | |
| 6 | g.144186736A>C | CA365948552 | STX11 | c.109A>C (p.Thr37Pro) c.187A>C (p.Thr63Pro) | |
| 6 | g.144186736A>G | CA365948553 | STX11 | c.109A>G (p.Thr37Ala) c.187A>G (p.Thr63Ala) | |
| 6 | g.144186736A>T | CA365948554 | STX11 | c.109A>T (p.Thr37Ser) c.187A>T (p.Thr63Ser) | |
| 6 | g.144186737del | CA2580617591 | STX11 | c.110del (p.Thr37ArgfsTer26) c.188del (p.Thr63ArgfsTer26) | |
| 6 | g.144186737C>A | CA365948555 | STX11 | c.110C>A (p.Thr37Lys) c.188C>A (p.Thr63Lys) | |
| 6 | g.144186737C= | CA1669582479 | STX11 | c.110C= (p.Thr37=) c.188C= (p.Thr63=) | |
| 6 | g.144186737C>G | CA365948556 | STX11 | c.110C>G (p.Thr37Arg) c.188C>G (p.Thr63Arg) | |
| 6 | g.144186737C>T | CA4031625 | STX11 | c.110C>T (p.Thr37Met) c.188C>T (p.Thr63Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.144186738G>A | CA4031626 | STX11 | c.111G>A (p.Thr37=) c.189G>A (p.Thr63=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186738G>C | CA452707666 | STX11 | c.111G>C (p.Thr37=) c.189G>C (p.Thr63=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186738G= | CA1669582480 | STX11 | c.111G= (p.Thr37=) c.189G= (p.Thr63=) | |
| 6 | g.144186738G>T | CA452707667 | STX11 | c.111G>T (p.Thr37=) c.189G>T (p.Thr63=) | |
| 6 | g.144186739G>A | CA365948557 | STX11 | c.112G>A (p.Asp38Asn) c.190G>A (p.Asp64Asn) | |
| 6 | g.144186739G>C | CA365948558 | STX11 | c.112G>C (p.Asp38His) c.190G>C (p.Asp64His) | |
| 6 | g.144186739G>T | CA365948559 | STX11 | c.112G>T (p.Asp38Tyr) c.190G>T (p.Asp64Tyr) | |
| 6 | g.144186740A>C | CA365948560 | STX11 | c.113A>C (p.Asp38Ala) c.191A>C (p.Asp64Ala) | |
| 6 | g.144186740A>G | CA365948562 | STX11 | c.113A>G (p.Asp38Gly) c.191A>G (p.Asp64Gly) | |
| 6 | g.144186740A>T | CA365948561 | STX11 | c.113A>T (p.Asp38Val) c.191A>T (p.Asp64Val) | |
| 6 | g.144186741C>A | CA4031627 | STX11 | c.114C>A (p.Asp38Glu) c.192C>A (p.Asp64Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186741C= | CA1669582481 | STX11 | c.114C= (p.Asp38=) c.192C= (p.Asp64=) | |
| 6 | g.144186741C>G | CA365948563 | STX11 | c.114C>G (p.Asp38Glu) c.192C>G (p.Asp64Glu) | gnomAD v4 |
| 6 | g.144186741C>T | CA452707669 | STX11 | c.114C>T (p.Asp38=) c.192C>T (p.Asp64=) | gnomAD v4 |
| 6 | g.144186742C>A | CA365948564 | STX11 | c.115C>A (p.His39Asn) c.193C>A (p.His65Asn) | gnomAD v4 |
| 6 | g.144186742C= | CA1669582482 | STX11 | c.115C= (p.His39=) c.193C= (p.His65=) | |
| 6 | g.144186742C>G | CA149823922 | STX11 | c.115C>G (p.His39Asp) c.193C>G (p.His65Asp) | dbSNP gnomAD v4 |
| 6 | g.144186742C>T | CA365948565 | STX11 | c.115C>T (p.His39Tyr) c.193C>T (p.His65Tyr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.144186743A= | CA1669582483 | STX11 | c.116A= (p.His39=) c.194A= (p.His65=) | |
| 6 | g.144186743A>C | CA365948566 | STX11 | c.116A>C (p.His39Pro) c.194A>C (p.His65Pro) | gnomAD v4 |
| 6 | g.144186743A>G | CA4031628 | STX11 | c.116A>G (p.His39Arg) c.194A>G (p.His65Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186743A>T | CA365948567 | STX11 | c.116A>T (p.His39Leu) c.194A>T (p.His65Leu) | |
| 6 | g.144186744C>A | CA365948568 | STX11 | c.117C>A (p.His39Gln) c.195C>A (p.His65Gln) | |
| 6 | g.144186744C>G | CA365948569 | STX11 | c.117C>G (p.His39Gln) c.195C>G (p.His65Gln) | |
| 6 | g.144186744C>T | CA452707672 | STX11 | c.117C>T (p.His39=) c.195C>T (p.His65=) | |
| 6 | g.144186744_144186745insTTACCCTGCTCGAACATGTCCTCG | CA2773388368 | STX11 | c.117_118insTTACCCTGCTCGAACATGTCCTCG (p.His39_Ile40insLeuProCysSerAsnMetSerSer) c.195_196insTTACCCTGCTCGAACATGTCCTCG (p.His65_Ile66insLeuProCysSerAsnMetSerSer) | |
| 6 | g.144186745A>C | CA365948571 | STX11 | c.118A>C (p.Ile40Leu) c.196A>C (p.Ile66Leu) | |
| 6 | g.144186745A>G | CA365948572 | STX11 | c.118A>G (p.Ile40Val) c.196A>G (p.Ile66Val) | |
| 6 | g.144186745A>T | CA365948570 | STX11 | c.118A>T (p.Ile40Phe) c.196A>T (p.Ile66Phe) | COSMIC |
| 6 | g.144186746T>A | CA365948573 | STX11 | c.119T>A (p.Ile40Asn) c.197T>A (p.Ile66Asn) | |
| 6 | g.144186746T>C | CA365948574 | STX11 | c.119T>C (p.Ile40Thr) c.197T>C (p.Ile66Thr) | gnomAD v4 |
| 6 | g.144186746T>G | CA365948575 | STX11 | c.119T>G (p.Ile40Ser) c.197T>G (p.Ile66Ser) | |
| 6 | g.144186747C>A | CA4031629 | STX11 | c.120C>A (p.Ile40=) c.198C>A (p.Ile66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186747C= | CA1669582484 | STX11 | c.120C= (p.Ile40=) c.198C= (p.Ile66=) | |
| 6 | g.144186747C>G | CA365948576 | STX11 | c.120C>G (p.Ile40Met) c.198C>G (p.Ile66Met) | |
| 6 | g.144186747C>T | CA4031630 | STX11 | c.120C>T (p.Ile40=) c.198C>T (p.Ile66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186748C>A | CA4031631 | STX11 | c.121C>A (p.Leu41Met) c.199C>A (p.Leu67Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186748C= | CA1669582485 | STX11 | c.121C= (p.Leu41=) c.199C= (p.Leu67=) | |
| 6 | g.144186748C>G | CA365948577 | STX11 | c.121C>G (p.Leu41Val) c.199C>G (p.Leu67Val) | |
| 6 | g.144186748C>T | CA452707674 | STX11 | c.121C>T (p.Leu41=) c.199C>T (p.Leu67=) | ClinVar |
| 6 | g.144186749T>A | CA365948578 | STX11 | c.122T>A (p.Leu41Gln) c.200T>A (p.Leu67Gln) | COSMIC |
| 6 | g.144186749T>C | CA365948579 | STX11 | c.122T>C (p.Leu41Pro) c.200T>C (p.Leu67Pro) | ClinVar gnomAD v4 |
| 6 | g.144186749T>G | CA4031632 | STX11 | c.122T>G (p.Leu41Arg) c.200T>G (p.Leu67Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186749T= | CA1669582486 | STX11 | c.122T= (p.Leu41=) c.200T= (p.Leu67=) | |
| 6 | g.144186750G>A | CA452707675 | STX11 | c.123G>A (p.Leu41=) c.201G>A (p.Leu67=) | |
| 6 | g.144186750G>C | CA452707676 | STX11 | c.123G>C (p.Leu41=) c.201G>C (p.Leu67=) | |
| 6 | g.144186750G>T | CA452707677 | STX11 | c.123G>T (p.Leu41=) c.201G>T (p.Leu67=) | |
| 6 | g.144186751G>A | CA365948580 | STX11 | c.124G>A (p.Glu42Lys) c.202G>A (p.Glu68Lys) | |
| 6 | g.144186751G>C | CA365948581 | STX11 | c.124G>C (p.Glu42Gln) c.202G>C (p.Glu68Gln) | COSMIC |
| 6 | g.144186751G>T | CA365948582 | STX11 | c.124G>T (p.Glu42Ter) c.202G>T (p.Glu68Ter) | |
| 6 | g.144186752A= | CA1669582487 | STX11 | c.125A= (p.Glu42=) c.203A= (p.Glu68=) | |
| 6 | g.144186752A>C | CA4031633 | STX11 | c.125A>C (p.Glu42Ala) c.203A>C (p.Glu68Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186752A>G | CA365948583 | STX11 | c.125A>G (p.Glu42Gly) c.203A>G (p.Glu68Gly) | |
| 6 | g.144186752A>T | CA365948584 | STX11 | c.125A>T (p.Glu42Val) c.203A>T (p.Glu68Val) | |
| 6 | g.144186753G>A | CA452707678 | STX11 | c.126G>A (p.Glu42=) c.204G>A (p.Glu68=) | |
| 6 | g.144186753G>C | CA365948585 | STX11 | c.126G>C (p.Glu42Asp) c.204G>C (p.Glu68Asp) | gnomAD v4 |
| 6 | g.144186753G>T | CA365948586 | STX11 | c.126G>T (p.Glu42Asp) c.204G>T (p.Glu68Asp) | |
| 6 | g.144186754T>A | CA365948587 | STX11 | c.127T>A (p.Ser43Thr) c.205T>A (p.Ser69Thr) | gnomAD v4 |
| 6 | g.144186754T>C | CA365948588 | STX11 | c.127T>C (p.Ser43Pro) c.205T>C (p.Ser69Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186754T>G | CA365948589 | STX11 | c.127T>G (p.Ser43Ala) c.205T>G (p.Ser69Ala) | dbSNP |
| 6 | g.144186754T= | CA1669582488 | STX11 | c.127T= (p.Ser43=) c.205T= (p.Ser69=) | |
| 6 | g.144186754_144186760del | CA2697553777 | STX11 | c.127_133del (p.Ser43ThrfsTer18) c.205_211del (p.Ser69ThrfsTer18) | ClinVar |
| 6 | g.144186755C>A | CA365948590 | STX11 | c.128C>A (p.Ser43Tyr) c.206C>A (p.Ser69Tyr) | |
| 6 | g.144186755C>G | CA365948591 | STX11 | c.128C>G (p.Ser43Cys) c.206C>G (p.Ser69Cys) | |
| 6 | g.144186755C>T | CA365948592 | STX11 | c.128C>T (p.Ser43Phe) c.206C>T (p.Ser69Phe) | COSMIC |
| 6 | g.144186756C>A | CA452707679 | STX11 | c.129C>A (p.Ser43=) c.207C>A (p.Ser69=) | |
| 6 | g.144186756C>G | CA452707680 | STX11 | c.129C>G (p.Ser43=) c.207C>G (p.Ser69=) | gnomAD v4 |
| 6 | g.144186756C>T | CA452707681 | STX11 | c.129C>T (p.Ser43=) c.207C>T (p.Ser69=) | |
| 6 | g.144186757C>A | CA365948593 | STX11 | c.130C>A (p.Leu44Met) c.208C>A (p.Leu70Met) | dbSNP gnomAD v2 |
| 6 | g.144186757C= | CA1669582489 | STX11 | c.130C= (p.Leu44=) c.208C= (p.Leu70=) | |
| 6 | g.144186757C>G | CA365948594 | STX11 | c.130C>G (p.Leu44Val) c.208C>G (p.Leu70Val) | dbSNP |
| 6 | g.144186757C>T | CA452707682 | STX11 | c.130C>T (p.Leu44=) c.208C>T (p.Leu70=) | gnomAD v4 |
| 6 | g.144186758T>A | CA365948595 | STX11 | c.131T>A (p.Leu44Gln) c.209T>A (p.Leu70Gln) | |
| 6 | g.144186758T>C | CA365948596 | STX11 | c.131T>C (p.Leu44Pro) c.209T>C (p.Leu70Pro) | |
| 6 | g.144186758T>G | CA365948597 | STX11 | c.131T>G (p.Leu44Arg) c.209T>G (p.Leu70Arg) | |
| 6 | g.144186759G>A | CA452707683 | STX11 | c.132G>A (p.Leu44=) c.210G>A (p.Leu70=) | |
| 6 | g.144186759G>C | CA452707684 | STX11 | c.132G>C (p.Leu44=) c.210G>C (p.Leu70=) | |
| 6 | g.144186759G>T | CA452707685 | STX11 | c.132G>T (p.Leu44=) c.210G>T (p.Leu70=) | |
| 6 | g.144186760T>A | CA365948598 | STX11 | c.133T>A (p.Tyr45Asn) c.211T>A (p.Tyr71Asn) | |
| 6 | g.144186760T>C | CA365948600 | STX11 | c.133T>C (p.Tyr45His) c.211T>C (p.Tyr71His) | |
| 6 | g.144186760T>G | CA365948599 | STX11 | c.133T>G (p.Tyr45Asp) c.211T>G (p.Tyr71Asp) | |
| 6 | g.144186761A= | CA1669582490 | STX11 | c.134A= (p.Tyr45=) c.212A= (p.Tyr71=) | |
| 6 | g.144186761A>C | CA365948601 | STX11 | c.134A>C (p.Tyr45Ser) c.212A>C (p.Tyr71Ser) | |
| 6 | g.144186761A>G | CA365948602 | STX11 | c.134A>G (p.Tyr45Cys) c.212A>G (p.Tyr71Cys) | dbSNP gnomAD v4 COSMIC |
| 6 | g.144186761A>T | CA365948603 | STX11 | c.134A>T (p.Tyr45Phe) c.212A>T (p.Tyr71Phe) | |
| 6 | g.144186762C>A | CA365948604 | STX11 | c.135C>A (p.Tyr45Ter) c.213C>A (p.Tyr71Ter) | |
| 6 | g.144186762C>G | CA365948605 | STX11 | c.135C>G (p.Tyr45Ter) c.213C>G (p.Tyr71Ter) | |
| 6 | g.144186762C>T | CA452707686 | STX11 | c.135C>T (p.Tyr45=) c.213C>T (p.Tyr71=) | |
| 6 | g.144186763C>A | CA452707687 | STX11 | c.136C>A (p.Arg46=) c.214C>A (p.Arg72=) | dbSNP gnomAD v4 |
| 6 | g.144186763C= | CA1669582491 | STX11 | c.136C= (p.Arg46=) c.214C= (p.Arg72=) | |
| 6 | g.144186763C>G | CA365948606 | STX11 | c.136C>G (p.Arg46Gly) c.214C>G (p.Arg72Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.144186763C>T | CA365948607 | STX11 | c.136C>T (p.Arg46Ter) c.214C>T (p.Arg72Ter) | |
| 6 | g.144186764G>A | CA4031634 | STX11 | c.137G>A (p.Arg46Gln) c.215G>A (p.Arg72Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186764G>C | CA365948608 | STX11 | c.137G>C (p.Arg46Pro) c.215G>C (p.Arg72Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186764G= | CA1669582492 | STX11 | c.137G= (p.Arg46=) c.215G= (p.Arg72=) | |
| 6 | g.144186764G>T | CA365948609 | STX11 | c.137G>T (p.Arg46Leu) c.215G>T (p.Arg72Leu) | |
| 6 | g.144186765A>C | CA452707688 | STX11 | c.138A>C (p.Arg46=) c.216A>C (p.Arg72=) | |
| 6 | g.144186765A>G | CA452707690 | STX11 | c.138A>G (p.Arg46=) c.216A>G (p.Arg72=) | |
| 6 | g.144186765A>T | CA452707691 | STX11 | c.138A>T (p.Arg46=) c.216A>T (p.Arg72=) | |
| 6 | g.144186766G>A | CA365948610 | STX11 | c.139G>A (p.Asp47Asn) c.217G>A (p.Asp73Asn) | |
| 6 | g.144186766G>C | CA365948611 | STX11 | c.139G>C (p.Asp47His) c.217G>C (p.Asp73His) | |
| 6 | g.144186766G>T | CA365948612 | STX11 | c.139G>T (p.Asp47Tyr) c.217G>T (p.Asp73Tyr) | |
| 6 | g.144186767A>C | CA365948615 | STX11 | c.140A>C (p.Asp47Ala) c.218A>C (p.Asp73Ala) | |
| 6 | g.144186767A>G | CA365948613 | STX11 | c.140A>G (p.Asp47Gly) c.218A>G (p.Asp73Gly) | |
| 6 | g.144186767A>T | CA365948614 | STX11 | c.140A>T (p.Asp47Val) c.218A>T (p.Asp73Val) | |
| 6 | g.144186768C>A | CA365948616 | STX11 | c.141C>A (p.Asp47Glu) c.219C>A (p.Asp73Glu) | |
| 6 | g.144186768C= | CA1669582493 | STX11 | c.141C= (p.Asp47=) c.219C= (p.Asp73=) | |
| 6 | g.144186768C>G | CA365948617 | STX11 | c.141C>G (p.Asp47Glu) c.219C>G (p.Asp73Glu) | |
| 6 | g.144186768C>T | CA4031635 | STX11 | c.141C>T (p.Asp47=) c.219C>T (p.Asp73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186769A= | CA1669582494 | STX11 | c.142A= (p.Ile48=) c.220A= (p.Ile74=) | |
| 6 | g.144186769A>C | CA365948618 | STX11 | c.142A>C (p.Ile48Leu) c.220A>C (p.Ile74Leu) | |
| 6 | g.144186769A>G | CA149823923 | STX11 | c.142A>G (p.Ile48Val) c.220A>G (p.Ile74Val) | dbSNP gnomAD v4 |
| 6 | g.144186769A>T | CA365948619 | STX11 | c.142A>T (p.Ile48Phe) c.220A>T (p.Ile74Phe) | |
| 6 | g.144186770T>A | CA365948620 | STX11 | c.143T>A (p.Ile48Asn) c.221T>A (p.Ile74Asn) | gnomAD v4 |
| 6 | g.144186770T>C | CA365948621 | STX11 | c.143T>C (p.Ile48Thr) c.221T>C (p.Ile74Thr) | |
| 6 | g.144186770T>G | CA365948622 | STX11 | c.143T>G (p.Ile48Ser) c.221T>G (p.Ile74Ser) | |
| 6 | g.144186770dup | CA2680618342 | STX11 | c.143dup (p.Arg49ProfsTer6) c.221dup (p.Arg75ProfsTer6) | gnomAD v4 |
| 6 | g.144186771C>A | CA452707693 | STX11 | c.144C>A (p.Ile48=) c.222C>A (p.Ile74=) | |
| 6 | g.144186771C>G | CA365948623 | STX11 | c.144C>G (p.Ile48Met) c.222C>G (p.Ile74Met) | |
| 6 | g.144186771C>T | CA452707692 | STX11 | c.144C>T (p.Ile48=) c.222C>T (p.Ile74=) | gnomAD v4 |
| 6 | g.144186772C>A | CA452707694 | STX11 | c.145C>A (p.Arg49=) c.223C>A (p.Arg75=) | dbSNP gnomAD v4 |
| 6 | g.144186772C= | CA1669582495 | STX11 | c.145C= (p.Arg49=) c.223C= (p.Arg75=) | |
| 6 | g.144186772C>G | CA365948624 | STX11 | c.145C>G (p.Arg49Gly) c.223C>G (p.Arg75Gly) | dbSNP |
| 6 | g.144186772C>T | CA365948625 | STX11 | c.145C>T (p.Arg49Trp) c.223C>T (p.Arg75Trp) | dbSNP gnomAD v4 |
| 6 | g.144186773G>A | CA4031636 | STX11 | c.146G>A (p.Arg49Gln) c.224G>A (p.Arg75Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186773G>C | CA365948627 | STX11 | c.146G>C (p.Arg49Pro) c.224G>C (p.Arg75Pro) | |
| 6 | g.144186773G= | CA1669582496 | STX11 | c.146G= (p.Arg49=) c.224G= (p.Arg75=) | |
| 6 | g.144186773G>T | CA365948626 | STX11 | c.146G>T (p.Arg49Leu) c.224G>T (p.Arg75Leu) | |
| 6 | g.144186774G>A | CA452707695 | STX11 | c.147G>A (p.Arg49=) c.225G>A (p.Arg75=) | gnomAD v4 |
| 6 | g.144186774G>C | CA452707697 | STX11 | c.147G>C (p.Arg49=) c.225G>C (p.Arg75=) | |
| 6 | g.144186774G>T | CA452707696 | STX11 | c.147G>T (p.Arg49=) c.225G>T (p.Arg75=) | |
| 6 | g.144186775G>A | CA365948629 | STX11 | c.148G>A (p.Asp50Asn) c.226G>A (p.Asp76Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186775G>C | CA365948628 | STX11 | c.148G>C (p.Asp50His) c.226G>C (p.Asp76His) | |
| 6 | g.144186775G= | CA1669582497 | STX11 | c.148G= (p.Asp50=) c.226G= (p.Asp76=) | |
| 6 | g.144186775G>T | CA365948630 | STX11 | c.148G>T (p.Asp50Tyr) c.226G>T (p.Asp76Tyr) | |
| 6 | g.144186776A>C | CA365948631 | STX11 | c.149A>C (p.Asp50Ala) c.227A>C (p.Asp76Ala) | |
| 6 | g.144186776A>G | CA365948632 | STX11 | c.149A>G (p.Asp50Gly) c.227A>G (p.Asp76Gly) | |
| 6 | g.144186776A>T | CA365948633 | STX11 | c.149A>T (p.Asp50Val) c.227A>T (p.Asp76Val) | |
| 6 | g.144186777C>A | CA365948634 | STX11 | c.150C>A (p.Asp50Glu) c.228C>A (p.Asp76Glu) | |
| 6 | g.144186777C>G | CA365948635 | STX11 | c.150C>G (p.Asp50Glu) c.228C>G (p.Asp76Glu) | |
| 6 | g.144186777C>T | CA452707698 | STX11 | c.150C>T (p.Asp50=) c.228C>T (p.Asp76=) | gnomAD v4 |
| 6 | g.144186778A>C | CA365948636 | STX11 | c.151A>C (p.Ile51Leu) c.229A>C (p.Ile77Leu) | |
| 6 | g.144186778A>G | CA365948637 | STX11 | c.151A>G (p.Ile51Val) c.229A>G (p.Ile77Val) | gnomAD v4 |
| 6 | g.144186778A>T | CA365948638 | STX11 | c.151A>T (p.Ile51Phe) c.229A>T (p.Ile77Phe) | |
| 6 | g.144186779T>A | CA365948639 | STX11 | c.152T>A (p.Ile51Asn) c.230T>A (p.Ile77Asn) | |
| 6 | g.144186779T>C | CA365948641 | STX11 | c.152T>C (p.Ile51Thr) c.230T>C (p.Ile77Thr) | |
| 6 | g.144186779T>G | CA365948640 | STX11 | c.152T>G (p.Ile51Ser) c.230T>G (p.Ile77Ser) | |
| 6 | g.144186780T>A | CA452707700 | STX11 | c.153T>A (p.Ile51=) c.231T>A (p.Ile77=) | |
| 6 | g.144186780T>C | CA452707701 | STX11 | c.153T>C (p.Ile51=) c.231T>C (p.Ile77=) | |
| 6 | g.144186780T>G | CA365948642 | STX11 | c.153T>G (p.Ile51Met) c.231T>G (p.Ile77Met) | dbSNP |
| 6 | g.144186780T= | CA1669582498 | STX11 | c.153T= (p.Ile51=) c.231T= (p.Ile77=) | |
| 6 | g.144186781C>A | CA365948643 | STX11 | c.154C>A (p.Gln52Lys) c.232C>A (p.Gln78Lys) | gnomAD v4 |
| 6 | g.144186781C= | CA1669582499 | STX11 | c.154C= (p.Gln52=) c.232C= (p.Gln78=) | |
| 6 | g.144186781C>G | CA365948644 | STX11 | c.154C>G (p.Gln52Glu) c.232C>G (p.Gln78Glu) | dbSNP gnomAD v4 |
| 6 | g.144186781C>T | CA365948645 | STX11 | c.154C>T (p.Gln52Ter) c.232C>T (p.Gln78Ter) | COSMIC |
| 6 | g.144186782A>C | CA365948646 | STX11 | c.155A>C (p.Gln52Pro) c.233A>C (p.Gln78Pro) | |
| 6 | g.144186782A>G | CA365948648 | STX11 | c.155A>G (p.Gln52Arg) c.233A>G (p.Gln78Arg) | gnomAD v4 |
| 6 | g.144186782A>T | CA365948647 | STX11 | c.155A>T (p.Gln52Leu) c.233A>T (p.Gln78Leu) | |
| 6 | g.144186782_144186786delinsAGGAT | CA1669582500 | STX11 | c.155_159delinsAGGAT (p.Gln52=) c.233_237delinsAGGAT (p.Gln78=) | |
| 6 | g.144186783G>A | CA4031638 | STX11 | c.156G>A (p.Gln52=) c.234G>A (p.Gln78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186783G>C | CA365948649 | STX11 | c.156G>C (p.Gln52His) c.234G>C (p.Gln78His) | |
| 6 | g.144186783G= | CA1669582501 | STX11 | c.156G= (p.Gln52=) c.234G= (p.Gln78=) | |
| 6 | g.144186783G>T | CA365948650 | STX11 | c.156G>T (p.Gln52His) c.234G>T (p.Gln78His) | |
| 6 | g.144186784_144186787del | CA4031637 | STX11 | c.157_160del (p.Asp53LysfsTer9) c.235_238del (p.Asp79LysfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186784G>A | CA4031639 | STX11 | c.157G>A (p.Asp53Asn) c.235G>A (p.Asp79Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186784G>C | CA365948651 | STX11 | c.157G>C (p.Asp53His) c.235G>C (p.Asp79His) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186784G= | CA1669582502 | STX11 | c.157G= (p.Asp53=) c.235G= (p.Asp79=) | |
| 6 | g.144186784G>T | CA365948652 | STX11 | c.157G>T (p.Asp53Tyr) c.235G>T (p.Asp79Tyr) | |
| 6 | g.144186785A= | CA1669582503 | STX11 | c.158A= (p.Asp53=) c.236A= (p.Asp79=) | |
| 6 | g.144186785A>C | CA365948653 | STX11 | c.158A>C (p.Asp53Ala) c.236A>C (p.Asp79Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186785A>G | CA365948654 | STX11 | c.158A>G (p.Asp53Gly) c.236A>G (p.Asp79Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186785A>T | CA365948655 | STX11 | c.158A>T (p.Asp53Val) c.236A>T (p.Asp79Val) | dbSNP |
| 6 | g.144186786T>A | CA365948656 | STX11 | c.159T>A (p.Asp53Glu) c.237T>A (p.Asp79Glu) | gnomAD v4 |
| 6 | g.144186786T>C | CA452707702 | STX11 | c.159T>C (p.Asp53=) c.237T>C (p.Asp79=) | |
| 6 | g.144186786T>G | CA365948657 | STX11 | c.159T>G (p.Asp53Glu) c.237T>G (p.Asp79Glu) | |
| 6 | g.144186787G>A | CA365948658 | STX11 | c.160G>A (p.Glu54Lys) c.238G>A (p.Glu80Lys) | |
| 6 | g.144186787G>C | CA365948660 | STX11 | c.160G>C (p.Glu54Gln) c.238G>C (p.Glu80Gln) | |
| 6 | g.144186787G>T | CA365948659 | STX11 | c.160G>T (p.Glu54Ter) c.238G>T (p.Glu80Ter) | |
| 6 | g.144186788A= | CA1669582504 | STX11 | c.161A= (p.Glu54=) c.239A= (p.Glu80=) | |
| 6 | g.144186788A>C | CA365948661 | STX11 | c.161A>C (p.Glu54Ala) c.239A>C (p.Glu80Ala) | |
| 6 | g.144186788A>G | CA365948662 | STX11 | c.161A>G (p.Glu54Gly) c.239A>G (p.Glu80Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186788A>T | CA365948663 | STX11 | c.161A>T (p.Glu54Val) c.239A>T (p.Glu80Val) | |
| 6 | g.144186789A>C | CA365948664 | STX11 | c.162A>C (p.Glu54Asp) c.240A>C (p.Glu80Asp) | |
| 6 | g.144186789A>G | CA452707703 | STX11 | c.162A>G (p.Glu54=) c.240A>G (p.Glu80=) | |
| 6 | g.144186789A>T | CA365948665 | STX11 | c.162A>T (p.Glu54Asp) c.240A>T (p.Glu80Asp) | |
| 6 | g.144186790A>C | CA365948666 | STX11 | c.163A>C (p.Asn55His) c.241A>C (p.Asn81His) | |
| 6 | g.144186790A>G | CA365948667 | STX11 | c.163A>G (p.Asn55Asp) c.241A>G (p.Asn81Asp) | |
| 6 | g.144186790A>T | CA365948668 | STX11 | c.163A>T (p.Asn55Tyr) c.241A>T (p.Asn81Tyr) |