| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.144186792C>A | CA365948671 | STX11 | c.165C>A (p.Asn55Lys) c.243C>A (p.Asn81Lys) | |
| 6 | g.144186792C= | CA1669582506 | STX11 | c.165C= (p.Asn55=) c.243C= (p.Asn81=) | |
| 6 | g.144186792C>G | CA4031641 | STX11 | c.165C>G (p.Asn55Lys) c.243C>G (p.Asn81Lys) | dbSNP ExAC gnomAD v2 |
| 6 | g.144186792C>T | CA452707704 | STX11 | c.165C>T (p.Asn55=) c.243C>T (p.Asn81=) | |
| 6 | g.144186793C>A | CA365948672 | STX11 | c.166C>A (p.Gln56Lys) c.244C>A (p.Gln82Lys) | gnomAD v4 |
| 6 | g.144186793C>G | CA365948674 | STX11 | c.166C>G (p.Gln56Glu) c.244C>G (p.Gln82Glu) | |
| 6 | g.144186793C>T | CA365948673 | STX11 | c.166C>T (p.Gln56Ter) c.244C>T (p.Gln82Ter) | |
| 6 | g.144186794A>C | CA365948675 | STX11 | c.167A>C (p.Gln56Pro) c.245A>C (p.Gln82Pro) | |
| 6 | g.144186794A>G | CA365948676 | STX11 | c.167A>G (p.Gln56Arg) c.245A>G (p.Gln82Arg) | |
| 6 | g.144186794A>T | CA365948677 | STX11 | c.167A>T (p.Gln56Leu) c.245A>T (p.Gln82Leu) | |
| 6 | g.144186795G>A | CA452707705 | STX11 | c.168G>A (p.Gln56=) c.246G>A (p.Gln82=) | |
| 6 | g.144186795G>C | CA365948678 | STX11 | c.168G>C (p.Gln56His) c.246G>C (p.Gln82His) | |
| 6 | g.144186795G>T | CA365948679 | STX11 | c.168G>T (p.Gln56His) c.246G>T (p.Gln82His) | |
| 6 | g.144186796C>A | CA365948680 | STX11 | c.169C>A (p.Leu57Met) c.247C>A (p.Leu83Met) | |
| 6 | g.144186796C= | CA1669582507 | STX11 | c.169C= (p.Leu57=) c.247C= (p.Leu83=) | |
| 6 | g.144186796C>G | CA4031642 | STX11 | c.169C>G (p.Leu57Val) c.247C>G (p.Leu83Val) | dbSNP ExAC |
| 6 | g.144186796C>T | CA452707706 | STX11 | c.169C>T (p.Leu57=) c.247C>T (p.Leu83=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186797T>A | CA365948681 | STX11 | c.170T>A (p.Leu57Gln) c.248T>A (p.Leu83Gln) | |
| 6 | g.144186797T>C | CA365948682 | STX11 | c.170T>C (p.Leu57Pro) c.248T>C (p.Leu83Pro) | |
| 6 | g.144186797T>G | CA365948683 | STX11 | c.170T>G (p.Leu57Arg) c.248T>G (p.Leu83Arg) | |
| 6 | g.144186798G>A | CA452707707 | STX11 | c.171G>A (p.Leu57=) c.249G>A (p.Leu83=) | |
| 6 | g.144186798G>C | CA452707709 | STX11 | c.171G>C (p.Leu57=) c.249G>C (p.Leu83=) | |
| 6 | g.144186798G>T | CA452707708 | STX11 | c.171G>T (p.Leu57=) c.249G>T (p.Leu83=) | |
| 6 | g.144186799C>A | CA365948685 | STX11 | c.172C>A (p.Leu58Met) c.250C>A (p.Leu84Met) | |
| 6 | g.144186799C= | CA1669582508 | STX11 | c.172C= (p.Leu58=) c.250C= (p.Leu84=) | |
| 6 | g.144186799C>G | CA365948684 | STX11 | c.172C>G (p.Leu58Val) c.250C>G (p.Leu84Val) | dbSNP |
| 6 | g.144186799C>T | CA149823924 | STX11 | c.172C>T (p.Leu58=) c.250C>T (p.Leu84=) | ClinVar dbSNP |
| 6 | g.144186800T>A | CA365948686 | STX11 | c.173T>A (p.Leu58Gln) c.251T>A (p.Leu84Gln) | |
| 6 | g.144186800T>C | CA267503 | STX11 | c.173T>C (p.Leu58Pro) c.251T>C (p.Leu84Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186800T>G | CA365948687 | STX11 | c.173T>G (p.Leu58Arg) c.251T>G (p.Leu84Arg) | COSMIC |
| 6 | g.144186800T= | CA1669582509 | STX11 | c.173T= (p.Leu58=) c.251T= (p.Leu84=) | |
| 6 | g.144186801G>A | CA452707710 | STX11 | c.174G>A (p.Leu58=) c.252G>A (p.Leu84=) | ClinVar gnomAD v4 |
| 6 | g.144186801G>C | CA452707711 | STX11 | c.174G>C (p.Leu58=) c.252G>C (p.Leu84=) | ClinVar dbSNP |
| 6 | g.144186801G= | CA1669582510 | STX11 | c.174G= (p.Leu58=) c.252G= (p.Leu84=) | |
| 6 | g.144186801G>T | CA452707712 | STX11 | c.174G>T (p.Leu58=) c.252G>T (p.Leu84=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186802G>A | CA365948688 | STX11 | c.175G>A (p.Val59Met) c.253G>A (p.Val85Met) | gnomAD v4 |
| 6 | g.144186802G>C | CA365948689 | STX11 | c.175G>C (p.Val59Leu) c.253G>C (p.Val85Leu) | |
| 6 | g.144186802G>T | CA365948690 | STX11 | c.175G>T (p.Val59Leu) c.253G>T (p.Val85Leu) | |
| 6 | g.144186803T>A | CA365948693 | STX11 | c.176T>A (p.Val59Glu) c.254T>A (p.Val85Glu) | |
| 6 | g.144186803T>C | CA365948692 | STX11 | c.176T>C (p.Val59Ala) c.254T>C (p.Val85Ala) | |
| 6 | g.144186803T>G | CA365948691 | STX11 | c.176T>G (p.Val59Gly) c.254T>G (p.Val85Gly) | |
| 6 | g.144186804G>A | CA452707713 | STX11 | c.177G>A (p.Val59=) c.255G>A (p.Val85=) | |
| 6 | g.144186804G>C | CA452707714 | STX11 | c.177G>C (p.Val59=) c.255G>C (p.Val85=) | |
| 6 | g.144186804G>T | CA452707715 | STX11 | c.177G>T (p.Val59=) c.255G>T (p.Val85=) | |
| 6 | g.144186805G>A | CA365948694 | STX11 | c.178G>A (p.Ala60Thr) c.256G>A (p.Ala86Thr) | |
| 6 | g.144186805G>C | CA365948695 | STX11 | c.178G>C (p.Ala60Pro) c.256G>C (p.Ala86Pro) | |
| 6 | g.144186805G= | CA1669582511 | STX11 | c.178G= (p.Ala60=) c.256G= (p.Ala86=) | |
| 6 | g.144186805G>T | CA365948696 | STX11 | c.178G>T (p.Ala60Ser) c.256G>T (p.Ala86Ser) | dbSNP |
| 6 | g.144186806C>A | CA365948697 | STX11 | c.179C>A (p.Ala60Asp) c.257C>A (p.Ala86Asp) | |
| 6 | g.144186806C= | CA1669582512 | STX11 | c.179C= (p.Ala60=) c.257C= (p.Ala86=) | |
| 6 | g.144186806C>G | CA365948698 | STX11 | c.179C>G (p.Ala60Gly) c.257C>G (p.Ala86Gly) | |
| 6 | g.144186806C>T | CA4031643 | STX11 | c.179C>T (p.Ala60Val) c.257C>T (p.Ala86Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186807C>A | CA452707718 | STX11 | c.180C>A (p.Ala60=) c.258C>A (p.Ala86=) | ClinVar gnomAD v4 |
| 6 | g.144186807C= | CA1669582513 | STX11 | c.180C= (p.Ala60=) c.258C= (p.Ala86=) | |
| 6 | g.144186807C>G | CA452707716 | STX11 | c.180C>G (p.Ala60=) c.258C>G (p.Ala86=) | gnomAD v4 |
| 6 | g.144186807C>T | CA452707717 | STX11 | c.180C>T (p.Ala60=) c.258C>T (p.Ala86=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186808G>A | CA365948699 | STX11 | c.181G>A (p.Asp61Asn) c.259G>A (p.Asp87Asn) | gnomAD v4 COSMIC |
| 6 | g.144186808G>C | CA365948701 | STX11 | c.181G>C (p.Asp61His) c.259G>C (p.Asp87His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186808G= | CA1669582514 | STX11 | c.181G= (p.Asp61=) c.259G= (p.Asp87=) | |
| 6 | g.144186808G>T | CA365948700 | STX11 | c.181G>T (p.Asp61Tyr) c.259G>T (p.Asp87Tyr) | gnomAD v4 |
| 6 | g.144186809A>C | CA365948702 | STX11 | c.182A>C (p.Asp61Ala) c.260A>C (p.Asp87Ala) | |
| 6 | g.144186809A>G | CA365948703 | STX11 | c.182A>G (p.Asp61Gly) c.260A>G (p.Asp87Gly) | |
| 6 | g.144186809A>T | CA365948704 | STX11 | c.182A>T (p.Asp61Val) c.260A>T (p.Asp87Val) | |
| 6 | g.144186810C>A | CA365948705 | STX11 | c.183C>A (p.Asp61Glu) c.261C>A (p.Asp87Glu) | |
| 6 | g.144186810C= | CA1669582515 | STX11 | c.183C= (p.Asp61=) c.261C= (p.Asp87=) | |
| 6 | g.144186810C>G | CA4031645 | STX11 | c.183C>G (p.Asp61Glu) c.261C>G (p.Asp87Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186810C>T | CA4031644 | STX11 | c.183C>T (p.Asp61=) c.261C>T (p.Asp87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186811G>A | CA365948706 | STX11 | c.184G>A (p.Val62Met) c.262G>A (p.Val88Met) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.144186811G>C | CA4031646 | STX11 | c.184G>C (p.Val62Leu) c.262G>C (p.Val88Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186811G= | CA1669582516 | STX11 | c.184G= (p.Val62=) c.262G= (p.Val88=) | |
| 6 | g.144186811G>T | CA365948707 | STX11 | c.184G>T (p.Val62Leu) c.262G>T (p.Val88Leu) | dbSNP |
| 6 | g.144186812T>A | CA365948708 | STX11 | c.185T>A (p.Val62Glu) c.263T>A (p.Val88Glu) | |
| 6 | g.144186812T>C | CA365948709 | STX11 | c.185T>C (p.Val62Ala) c.263T>C (p.Val88Ala) | dbSNP |
| 6 | g.144186812T>G | CA365948710 | STX11 | c.185T>G (p.Val62Gly) c.263T>G (p.Val88Gly) | |
| 6 | g.144186812T= | CA1669582517 | STX11 | c.185T= (p.Val62=) c.263T= (p.Val88=) | |
| 6 | g.144186813G>A | CA452707719 | STX11 | c.186G>A (p.Val62=) c.264G>A (p.Val88=) | |
| 6 | g.144186813G>C | CA452707720 | STX11 | c.186G>C (p.Val62=) c.264G>C (p.Val88=) | |
| 6 | g.144186813G>T | CA452707721 | STX11 | c.186G>T (p.Val62=) c.264G>T (p.Val88=) | |
| 6 | g.144186814A= | CA1669582518 | STX11 | c.187A= (p.Lys63=) c.265A= (p.Lys89=) | |
| 6 | g.144186814A>C | CA365948711 | STX11 | c.187A>C (p.Lys63Gln) c.265A>C (p.Lys89Gln) | |
| 6 | g.144186814A>G | CA149823925 | STX11 | c.187A>G (p.Lys63Glu) c.265A>G (p.Lys89Glu) | dbSNP gnomAD v4 |
| 6 | g.144186814A>T | CA365948712 | STX11 | c.187A>T (p.Lys63Ter) c.265A>T (p.Lys89Ter) | |
| 6 | g.144186815A>C | CA365948713 | STX11 | c.188A>C (p.Lys63Thr) c.266A>C (p.Lys89Thr) | |
| 6 | g.144186815A>G | CA365948714 | STX11 | c.188A>G (p.Lys63Arg) c.266A>G (p.Lys89Arg) | gnomAD v4 |
| 6 | g.144186815A>T | CA365948715 | STX11 | c.188A>T (p.Lys63Met) c.266A>T (p.Lys89Met) | |
| 6 | g.144186816G>A | CA4031647 | STX11 | c.189G>A (p.Lys63=) c.267G>A (p.Lys89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186816G>C | CA365948716 | STX11 | c.189G>C (p.Lys63Asn) c.267G>C (p.Lys89Asn) | |
| 6 | g.144186816G= | CA1669582519 | STX11 | c.189G= (p.Lys63=) c.267G= (p.Lys89=) | |
| 6 | g.144186816G>T | CA365948717 | STX11 | c.189G>T (p.Lys63Asn) c.267G>T (p.Lys89Asn) | |
| 6 | g.144186817C>A | CA452707722 | STX11 | c.190C>A (p.Arg64=) c.268C>A (p.Arg90=) | |
| 6 | g.144186817C= | CA1669582520 | STX11 | c.190C= (p.Arg64=) c.268C= (p.Arg90=) | |
| 6 | g.144186817C>G | CA4031648 | STX11 | c.190C>G (p.Arg64Gly) c.268C>G (p.Arg90Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186817C>T | CA365948718 | STX11 | c.190C>T (p.Arg64Trp) c.268C>T (p.Arg90Trp) | |
| 6 | g.144186818G>A | CA365948719 | STX11 | c.191G>A (p.Arg64Gln) c.269G>A (p.Arg90Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186818G>C | CA365948720 | STX11 | c.191G>C (p.Arg64Pro) c.269G>C (p.Arg90Pro) | |
| 6 | g.144186818G= | CA1669582521 | STX11 | c.191G= (p.Arg64=) c.269G= (p.Arg90=) | |
| 6 | g.144186818G>T | CA365948721 | STX11 | c.191G>T (p.Arg64Leu) c.269G>T (p.Arg90Leu) | dbSNP gnomAD v4 |
| 6 | g.144186819G>A | CA452707723 | STX11 | c.192G>A (p.Arg64=) c.270G>A (p.Arg90=) | COSMIC |
| 6 | g.144186819G>C | CA149823926 | STX11 | c.192G>C (p.Arg64=) c.270G>C (p.Arg90=) | dbSNP |
| 6 | g.144186819G= | CA1669582522 | STX11 | c.192G= (p.Arg64=) c.270G= (p.Arg90=) | |
| 6 | g.144186819G>T | CA452707724 | STX11 | c.192G>T (p.Arg64=) c.270G>T (p.Arg90=) | gnomAD v4 COSMIC |
| 6 | g.144186820C>A | CA365948722 | STX11 | c.193C>A (p.Leu65Met) c.271C>A (p.Leu91Met) | |
| 6 | g.144186820C= | CA1669582523 | STX11 | c.193C= (p.Leu65=) c.271C= (p.Leu91=) | |
| 6 | g.144186820C>G | CA365948723 | STX11 | c.193C>G (p.Leu65Val) c.271C>G (p.Leu91Val) | |
| 6 | g.144186820C>T | CA149823927 | STX11 | c.193C>T (p.Leu65=) c.271C>T (p.Leu91=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186821T>A | CA365948724 | STX11 | c.194T>A (p.Leu65Gln) c.272T>A (p.Leu91Gln) | gnomAD v4 |
| 6 | g.144186821T>C | CA365948726 | STX11 | c.194T>C (p.Leu65Pro) c.272T>C (p.Leu91Pro) | gnomAD v4 |
| 6 | g.144186821T>G | CA365948725 | STX11 | c.194T>G (p.Leu65Arg) c.272T>G (p.Leu91Arg) | |
| 6 | g.144186822G>A | CA452707731 | STX11 | c.195G>A (p.Leu65=) c.273G>A (p.Leu91=) | gnomAD v4 |
| 6 | g.144186822G>C | CA452707733 | STX11 | c.195G>C (p.Leu65=) c.273G>C (p.Leu91=) | |
| 6 | g.144186822G>T | CA452707734 | STX11 | c.195G>T (p.Leu65=) c.273G>T (p.Leu91=) | |
| 6 | g.144186823G>A | CA365948727 | STX11 | c.196G>A (p.Gly66Arg) c.274G>A (p.Gly92Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186823G>C | CA365948728 | STX11 | c.196G>C (p.Gly66Arg) c.274G>C (p.Gly92Arg) | |
| 6 | g.144186823G= | CA1669582524 | STX11 | c.196G= (p.Gly66=) c.274G= (p.Gly92=) | |
| 6 | g.144186823G>T | CA365948729 | STX11 | c.196G>T (p.Gly66Ter) c.274G>T (p.Gly92Ter) | |
| 6 | g.144186824G>A | CA365948730 | STX11 | c.197G>A (p.Gly66Glu) c.275G>A (p.Gly92Glu) | |
| 6 | g.144186824G>C | CA365948731 | STX11 | c.197G>C (p.Gly66Ala) c.275G>C (p.Gly92Ala) | |
| 6 | g.144186824G>T | CA365948732 | STX11 | c.197G>T (p.Gly66Val) c.275G>T (p.Gly92Val) | |
| 6 | g.144186825A= | CA1669582525 | STX11 | c.198A= (p.Gly66=) c.276A= (p.Gly92=) | |
| 6 | g.144186825A>C | CA452707746 | STX11 | c.198A>C (p.Gly66=) c.276A>C (p.Gly92=) | |
| 6 | g.144186825A>G | CA4031649 | STX11 | c.198A>G (p.Gly66=) c.276A>G (p.Gly92=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186825A>T | CA452707749 | STX11 | c.198A>T (p.Gly66=) c.276A>T (p.Gly92=) | |
| 6 | g.144186826A>C | CA365948733 | STX11 | c.199A>C (p.Lys67Gln) c.277A>C (p.Lys93Gln) | |
| 6 | g.144186826A>G | CA365948734 | STX11 | c.199A>G (p.Lys67Glu) c.277A>G (p.Lys93Glu) | |
| 6 | g.144186826A>T | CA365948735 | STX11 | c.199A>T (p.Lys67Ter) c.277A>T (p.Lys93Ter) | |
| 6 | g.144186827A= | CA1669582526 | STX11 | c.200A= (p.Lys67=) c.278A= (p.Lys93=) | |
| 6 | g.144186827A>C | CA365948737 | STX11 | c.200A>C (p.Lys67Thr) c.278A>C (p.Lys93Thr) | |
| 6 | g.144186827A>G | CA4031650 | STX11 | c.200A>G (p.Lys67Arg) c.278A>G (p.Lys93Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186827A>T | CA365948736 | STX11 | c.200A>T (p.Lys67Met) c.278A>T (p.Lys93Met) | |
| 6 | g.144186828G>A | CA452731012 | STX11 | c.201G>A (p.Lys67=) c.279G>A (p.Lys93=) | gnomAD v4 |
| 6 | g.144186828G>C | CA4031651 | STX11 | c.201G>C (p.Lys67Asn) c.279G>C (p.Lys93Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186828G= | CA1669582527 | STX11 | c.201G= (p.Lys67=) c.279G= (p.Lys93=) | |
| 6 | g.144186828G>T | CA365948738 | STX11 | c.201G>T (p.Lys67Asn) c.279G>T (p.Lys93Asn) | |
| 6 | g.144186829C>A | CA365948739 | STX11 | c.202C>A (p.Gln68Lys) c.280C>A (p.Gln94Lys) | |
| 6 | g.144186829C>G | CA365948740 | STX11 | c.202C>G (p.Gln68Glu) c.280C>G (p.Gln94Glu) | |
| 6 | g.144186829C>T | CA365948741 | STX11 | c.202C>T (p.Gln68Ter) c.280C>T (p.Gln94Ter) | |
| 6 | g.144186830A= | CA1669582528 | STX11 | c.203A= (p.Gln68=) c.281A= (p.Gln94=) | |
| 6 | g.144186830A>C | CA365948742 | STX11 | c.203A>C (p.Gln68Pro) c.281A>C (p.Gln94Pro) | |
| 6 | g.144186830A>G | CA365948743 | STX11 | c.203A>G (p.Gln68Arg) c.281A>G (p.Gln94Arg) | dbSNP |
| 6 | g.144186830A>T | CA365948744 | STX11 | c.203A>T (p.Gln68Leu) c.281A>T (p.Gln94Leu) | |
| 6 | g.144186831G>A | CA452731019 | STX11 | c.204G>A (p.Gln68=) c.282G>A (p.Gln94=) | ClinVar gnomAD v4 |
| 6 | g.144186831G>C | CA365948745 | STX11 | c.204G>C (p.Gln68His) c.282G>C (p.Gln94His) | |
| 6 | g.144186831G>T | CA365948746 | STX11 | c.204G>T (p.Gln68His) c.282G>T (p.Gln94His) | |
| 6 | g.144186832A>C | CA365948747 | STX11 | c.205A>C (p.Asn69His) c.283A>C (p.Asn95His) | |
| 6 | g.144186832A>G | CA365948748 | STX11 | c.205A>G (p.Asn69Asp) c.283A>G (p.Asn95Asp) | |
| 6 | g.144186832A>T | CA365948749 | STX11 | c.205A>T (p.Asn69Tyr) c.283A>T (p.Asn95Tyr) | |
| 6 | g.144186833A>C | CA365948750 | STX11 | c.206A>C (p.Asn69Thr) c.284A>C (p.Asn95Thr) | |
| 6 | g.144186833A>G | CA365948751 | STX11 | c.206A>G (p.Asn69Ser) c.284A>G (p.Asn95Ser) | |
| 6 | g.144186833A>T | CA365948752 | STX11 | c.206A>T (p.Asn69Ile) c.284A>T (p.Asn95Ile) | |
| 6 | g.144186834C>A | CA4031652 | STX11 | c.207C>A (p.Asn69Lys) c.285C>A (p.Asn95Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.144186834C= | CA1669582529 | STX11 | c.207C= (p.Asn69=) c.285C= (p.Asn95=) | |
| 6 | g.144186834C>G | CA365948753 | STX11 | c.207C>G (p.Asn69Lys) c.285C>G (p.Asn95Lys) | ClinVar gnomAD v4 |
| 6 | g.144186834C>T | CA452731025 | STX11 | c.207C>T (p.Asn69=) c.285C>T (p.Asn95=) | gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186835G>A | CA365948754 | STX11 | c.208G>A (p.Ala70Thr) c.286G>A (p.Ala96Thr) | gnomAD v4 COSMIC |
| 6 | g.144186835G>C | CA365948755 | STX11 | c.208G>C (p.Ala70Pro) c.286G>C (p.Ala96Pro) | |
| 6 | g.144186835G>T | CA365948756 | STX11 | c.208G>T (p.Ala70Ser) c.286G>T (p.Ala96Ser) | |
| 6 | g.144186836C>A | CA365948757 | STX11 | c.209C>A (p.Ala70Asp) c.287C>A (p.Ala96Asp) | |
| 6 | g.144186836C>G | CA365948758 | STX11 | c.209C>G (p.Ala70Gly) c.287C>G (p.Ala96Gly) | |
| 6 | g.144186836C>T | CA365948759 | STX11 | c.209C>T (p.Ala70Val) c.287C>T (p.Ala96Val) | |
| 6 | g.144186837C>A | CA452731029 | STX11 | c.210C>A (p.Ala70=) c.288C>A (p.Ala96=) | |
| 6 | g.144186837C= | CA1669582530 | STX11 | c.210C= (p.Ala70=) c.288C= (p.Ala96=) | |
| 6 | g.144186837C>G | CA452731031 | STX11 | c.210C>G (p.Ala70=) c.288C>G (p.Ala96=) | |
| 6 | g.144186837C>T | CA149823928 | STX11 | c.210C>T (p.Ala70=) c.288C>T (p.Ala96=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186838C>A | CA365948760 | STX11 | c.211C>A (p.Arg71Ser) c.289C>A (p.Arg97Ser) | |
| 6 | g.144186838C= | CA1669582531 | STX11 | c.211C= (p.Arg71=) c.289C= (p.Arg97=) | |
| 6 | g.144186838C>G | CA365948761 | STX11 | c.211C>G (p.Arg71Gly) c.289C>G (p.Arg97Gly) | gnomAD v4 |
| 6 | g.144186838C>T | CA365948762 | STX11 | c.211C>T (p.Arg71Cys) c.289C>T (p.Arg97Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186839G>A | CA149823929 | STX11 | c.212G>A (p.Arg71His) c.290G>A (p.Arg97His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186839G>C | CA365948763 | STX11 | c.212G>C (p.Arg71Pro) c.290G>C (p.Arg97Pro) | |
| 6 | g.144186839G= | CA1669582532 | STX11 | c.212G= (p.Arg71=) c.290G= (p.Arg97=) | |
| 6 | g.144186839G>T | CA365948764 | STX11 | c.212G>T (p.Arg71Leu) c.290G>T (p.Arg97Leu) | |
| 6 | g.144186840C>A | CA452731033 | STX11 | c.213C>A (p.Arg71=) c.291C>A (p.Arg97=) | |
| 6 | g.144186840C= | CA1669582533 | STX11 | c.213C= (p.Arg71=) c.291C= (p.Arg97=) | |
| 6 | g.144186840C>G | CA452731034 | STX11 | c.213C>G (p.Arg71=) c.291C>G (p.Arg97=) | |
| 6 | g.144186840C>T | CA4031653 | STX11 | c.213C>T (p.Arg71=) c.291C>T (p.Arg97=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186841T>A | CA365948765 | STX11 | c.214T>A (p.Phe72Ile) c.292T>A (p.Phe98Ile) | |
| 6 | g.144186841T>C | CA4031654 | STX11 | c.214T>C (p.Phe72Leu) c.292T>C (p.Phe98Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186841T>G | CA365948766 | STX11 | c.214T>G (p.Phe72Val) c.292T>G (p.Phe98Val) | |
| 6 | g.144186841T= | CA1669582534 | STX11 | c.214T= (p.Phe72=) c.292T= (p.Phe98=) | |
| 6 | g.144186842T>A | CA365948767 | STX11 | c.215T>A (p.Phe72Tyr) c.293T>A (p.Phe98Tyr) | |
| 6 | g.144186842T>C | CA365948768 | STX11 | c.215T>C (p.Phe72Ser) c.293T>C (p.Phe98Ser) | |
| 6 | g.144186842T>G | CA365948769 | STX11 | c.215T>G (p.Phe72Cys) c.293T>G (p.Phe98Cys) | |
| 6 | g.144186843C>A | CA365948770 | STX11 | c.216C>A (p.Phe72Leu) c.294C>A (p.Phe98Leu) | |
| 6 | g.144186843C= | CA1669582535 | STX11 | c.216C= (p.Phe72=) c.294C= (p.Phe98=) | |
| 6 | g.144186843C>G | CA365948771 | STX11 | c.216C>G (p.Phe72Leu) c.294C>G (p.Phe98Leu) | |
| 6 | g.144186843C>T | CA452731038 | STX11 | c.216C>T (p.Phe72=) c.294C>T (p.Phe98=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186844C>A | CA365948772 | STX11 | c.217C>A (p.Leu73Ile) c.295C>A (p.Leu99Ile) | |
| 6 | g.144186844C>G | CA365948773 | STX11 | c.217C>G (p.Leu73Val) c.295C>G (p.Leu99Val) | gnomAD v4 |
| 6 | g.144186844C>T | CA365948774 | STX11 | c.217C>T (p.Leu73Phe) c.295C>T (p.Leu99Phe) | |
| 6 | g.144186845T>A | CA365948775 | STX11 | c.218T>A (p.Leu73His) c.296T>A (p.Leu99His) | gnomAD v4 |
| 6 | g.144186845T>C | CA365948776 | STX11 | c.218T>C (p.Leu73Pro) c.296T>C (p.Leu99Pro) | |
| 6 | g.144186845T>G | CA365948777 | STX11 | c.218T>G (p.Leu73Arg) c.296T>G (p.Leu99Arg) | |
| 6 | g.144186846C>A | CA452731043 | STX11 | c.219C>A (p.Leu73=) c.297C>A (p.Leu99=) | |
| 6 | g.144186846C>G | CA452731044 | STX11 | c.219C>G (p.Leu73=) c.297C>G (p.Leu99=) | |
| 6 | g.144186846C>T | CA452731045 | STX11 | c.219C>T (p.Leu73=) c.297C>T (p.Leu99=) | |
| 6 | g.144186847A= | CA1669582536 | STX11 | c.220A= (p.Thr74=) c.298A= (p.Thr100=) | |
| 6 | g.144186847A>C | CA365948780 | STX11 | c.220A>C (p.Thr74Pro) c.298A>C (p.Thr100Pro) | |
| 6 | g.144186847A>G | CA365948779 | STX11 | c.220A>G (p.Thr74Ala) c.298A>G (p.Thr100Ala) | |
| 6 | g.144186847A>T | CA365948778 | STX11 | c.220A>T (p.Thr74Ser) c.298A>T (p.Thr100Ser) | dbSNP |
| 6 | g.144186848C>A | CA365948781 | STX11 | c.221C>A (p.Thr74Lys) c.299C>A (p.Thr100Lys) | |
| 6 | g.144186848C= | CA1669582537 | STX11 | c.221C= (p.Thr74=) c.299C= (p.Thr100=) | |
| 6 | g.144186848C>G | CA365948782 | STX11 | c.221C>G (p.Thr74Arg) c.299C>G (p.Thr100Arg) | dbSNP gnomAD v4 |
| 6 | g.144186848C>T | CA4031655 | STX11 | c.221C>T (p.Thr74Met) c.299C>T (p.Thr100Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186849G>A | CA452731048 | STX11 | c.222G>A (p.Thr74=) c.300G>A (p.Thr100=) | ClinVar dbSNP |
| 6 | g.144186849G>C | CA452731049 | STX11 | c.222G>C (p.Thr74=) c.300G>C (p.Thr100=) | |
| 6 | g.144186849G>T | CA452731050 | STX11 | c.222G>T (p.Thr74=) c.300G>T (p.Thr100=) | |
| 6 | g.144186850T>A | CA365948783 | STX11 | c.223T>A (p.Ser75Thr) c.301T>A (p.Ser101Thr) | |
| 6 | g.144186850T>C | CA365948784 | STX11 | c.223T>C (p.Ser75Pro) c.301T>C (p.Ser101Pro) | |
| 6 | g.144186850T>G | CA365948785 | STX11 | c.223T>G (p.Ser75Ala) c.301T>G (p.Ser101Ala) | |
| 6 | g.144186851C>A | CA365948786 | STX11 | c.224C>A (p.Ser75Tyr) c.302C>A (p.Ser101Tyr) | |
| 6 | g.144186851C= | CA1669582538 | STX11 | c.224C= (p.Ser75=) c.302C= (p.Ser101=) | |
| 6 | g.144186851C>G | CA365948787 | STX11 | c.224C>G (p.Ser75Cys) c.302C>G (p.Ser101Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186851C>T | CA365948788 | STX11 | c.224C>T (p.Ser75Phe) c.302C>T (p.Ser101Phe) | gnomAD v4 |
| 6 | g.144186852C>A | CA452731055 | STX11 | c.225C>A (p.Ser75=) c.303C>A (p.Ser101=) | gnomAD v4 |
| 6 | g.144186852C>G | CA452731056 | STX11 | c.225C>G (p.Ser75=) c.303C>G (p.Ser101=) | |
| 6 | g.144186852C>T | CA452731057 | STX11 | c.225C>T (p.Ser75=) c.303C>T (p.Ser101=) | |
| 6 | g.144186853A>C | CA365948789 | STX11 | c.226A>C (p.Met76Leu) c.304A>C (p.Met102Leu) | |
| 6 | g.144186853A>G | CA365948790 | STX11 | c.226A>G (p.Met76Val) c.304A>G (p.Met102Val) | |
| 6 | g.144186853A>T | CA365948791 | STX11 | c.226A>T (p.Met76Leu) c.304A>T (p.Met102Leu) | |
| 6 | g.144186854T>A | CA365948793 | STX11 | c.227T>A (p.Met76Lys) c.305T>A (p.Met102Lys) | |
| 6 | g.144186854T>C | CA365948794 | STX11 | c.227T>C (p.Met76Thr) c.305T>C (p.Met102Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186854T>G | CA365948792 | STX11 | c.227T>G (p.Met76Arg) c.305T>G (p.Met102Arg) | |
| 6 | g.144186854T= | CA1669582539 | STX11 | c.227T= (p.Met76=) c.305T= (p.Met102=) | |
| 6 | g.144186855G>A | CA365948796 | STX11 | c.228G>A (p.Met76Ile) c.306G>A (p.Met102Ile) | |
| 6 | g.144186855G>C | CA4031656 | STX11 | c.228G>C (p.Met76Ile) c.306G>C (p.Met102Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186855G= | CA1669582540 | STX11 | c.228G= (p.Met76=) c.306G= (p.Met102=) | |
| 6 | g.144186855G>T | CA365948795 | STX11 | c.228G>T (p.Met76Ile) c.306G>T (p.Met102Ile) | |
| 6 | g.144186856C>A | CA452731071 | STX11 | c.229C>A (p.Arg77=) c.307C>A (p.Arg103=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.144186856C= | CA1669582541 | STX11 | c.229C= (p.Arg77=) c.307C= (p.Arg103=) | |
| 6 | g.144186856C>G | CA365948797 | STX11 | c.229C>G (p.Arg77Gly) c.307C>G (p.Arg103Gly) | |
| 6 | g.144186856C>T | CA4031657 | STX11 | c.229C>T (p.Arg77Trp) c.307C>T (p.Arg103Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186857G>A | CA365948798 | STX11 | c.230G>A (p.Arg77Gln) c.308G>A (p.Arg103Gln) | |
| 6 | g.144186857G>C | CA365948799 | STX11 | c.230G>C (p.Arg77Pro) c.308G>C (p.Arg103Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186857G= | CA1669582542 | STX11 | c.230G= (p.Arg77=) c.308G= (p.Arg103=) | |
| 6 | g.144186857G>T | CA365948800 | STX11 | c.230G>T (p.Arg77Leu) c.308G>T (p.Arg103Leu) | |
| 6 | g.144186858G>A | CA452731078 | STX11 | c.231G>A (p.Arg77=) c.309G>A (p.Arg103=) | |
| 6 | g.144186858G>C | CA452731077 | STX11 | c.231G>C (p.Arg77=) c.309G>C (p.Arg103=) | |
| 6 | g.144186858G>T | CA452731075 | STX11 | c.231G>T (p.Arg77=) c.309G>T (p.Arg103=) | |
| 6 | g.144186859C>A | CA365948801 | STX11 | c.232C>A (p.Arg78Ser) c.310C>A (p.Arg104Ser) | COSMIC |
| 6 | g.144186859C>G | CA365948802 | STX11 | c.232C>G (p.Arg78Gly) c.310C>G (p.Arg104Gly) | |
| 6 | g.144186859C>T | CA365948803 | STX11 | c.232C>T (p.Arg78Cys) c.310C>T (p.Arg104Cys) | gnomAD v4 COSMIC |
| 6 | g.144186860G>A | CA4031658 | STX11 | c.233G>A (p.Arg78His) c.311G>A (p.Arg104His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186860G>C | CA365948804 | STX11 | c.233G>C (p.Arg78Pro) c.311G>C (p.Arg104Pro) | |
| 6 | g.144186860G= | CA1669582543 | STX11 | c.233G= (p.Arg78=) c.311G= (p.Arg104=) | |
| 6 | g.144186860G>T | CA365948805 | STX11 | c.233G>T (p.Arg78Leu) c.311G>T (p.Arg104Leu) | dbSNP gnomAD v2 |
| 6 | g.144186861C>A | CA452731083 | STX11 | c.234C>A (p.Arg78=) c.312C>A (p.Arg104=) | |
| 6 | g.144186861C>G | CA452731085 | STX11 | c.234C>G (p.Arg78=) c.312C>G (p.Arg104=) | |
| 6 | g.144186861C>T | CA452731084 | STX11 | c.234C>T (p.Arg78=) c.312C>T (p.Arg104=) | |
| 6 | g.144186862C>A | CA365948807 | STX11 | c.235C>A (p.Leu79Ile) c.313C>A (p.Leu105Ile) | |
| 6 | g.144186862C= | CA1669582544 | STX11 | c.235C= (p.Leu79=) c.313C= (p.Leu105=) | |
| 6 | g.144186862C>G | CA365948806 | STX11 | c.235C>G (p.Leu79Val) c.313C>G (p.Leu105Val) | |
| 6 | g.144186862C>T | CA4031659 | STX11 | c.235C>T (p.Leu79Phe) c.313C>T (p.Leu105Phe) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.144186863T>A | CA365948808 | STX11 | c.236T>A (p.Leu79His) c.314T>A (p.Leu105His) | |
| 6 | g.144186863T>C | CA365948809 | STX11 | c.236T>C (p.Leu79Pro) c.314T>C (p.Leu105Pro) | |
| 6 | g.144186863T>G | CA365948810 | STX11 | c.236T>G (p.Leu79Arg) c.314T>G (p.Leu105Arg) | |
| 6 | g.144186864C>A | CA452731087 | STX11 | c.237C>A (p.Leu79=) c.315C>A (p.Leu105=) | |
| 6 | g.144186864C= | CA1669582545 | STX11 | c.237C= (p.Leu79=) c.315C= (p.Leu105=) | |
| 6 | g.144186864C>G | CA452731089 | STX11 | c.237C>G (p.Leu79=) c.315C>G (p.Leu105=) | |
| 6 | g.144186864C>T | CA4031660 | STX11 | c.237C>T (p.Leu79=) c.315C>T (p.Leu105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186869_144186871del | CA2680618343 | STX11 | c.242_244del (p.Ser81del) c.320_322del (p.Ser107del) | gnomAD v4 |
| 6 | g.144186865A= | CA1669582546 | STX11 | c.238A= (p.Ser80=) c.316A= (p.Ser106=) | |
| 6 | g.144186865A>C | CA365948811 | STX11 | c.238A>C (p.Ser80Arg) c.316A>C (p.Ser106Arg) | |
| 6 | g.144186865A>G | CA365948812 | STX11 | c.238A>G (p.Ser80Gly) c.316A>G (p.Ser106Gly) | dbSNP gnomAD v4 |
| 6 | g.144186865A>T | CA365948813 | STX11 | c.238A>T (p.Ser80Cys) c.316A>T (p.Ser106Cys) | |
| 6 | g.144186865_144186866insCCCCACCAAACACACCCAAC | CA2773388369 | STX11 | c.238_239insCCCCACCAAACACACCCAAC (p.Ser80ThrfsTer35) c.316_317insCCCCACCAAACACACCCAAC (p.Ser106ThrfsTer35) | |
| 6 | g.144186866G>A | CA4031661 | STX11 | c.239G>A (p.Ser80Asn) c.317G>A (p.Ser106Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186866G>C | CA365948814 | STX11 | c.239G>C (p.Ser80Thr) c.317G>C (p.Ser106Thr) | |
| 6 | g.144186866G= | CA1669582547 | STX11 | c.239G= (p.Ser80=) c.317G= (p.Ser106=) | |
| 6 | g.144186866G>T | CA365948815 | STX11 | c.239G>T (p.Ser80Ile) c.317G>T (p.Ser106Ile) | |
| 6 | g.144186867C>A | CA365948816 | STX11 | c.240C>A (p.Ser80Arg) c.318C>A (p.Ser106Arg) | |
| 6 | g.144186867C>G | CA365948817 | STX11 | c.240C>G (p.Ser80Arg) c.318C>G (p.Ser106Arg) | |
| 6 | g.144186867C>T | CA452731095 | STX11 | c.240C>T (p.Ser80=) c.318C>T (p.Ser106=) | |
| 6 | g.144186868A>C | CA365948820 | STX11 | c.241A>C (p.Ser81Arg) c.319A>C (p.Ser107Arg) | |
| 6 | g.144186868A>G | CA365948819 | STX11 | c.241A>G (p.Ser81Gly) c.319A>G (p.Ser107Gly) | |
| 6 | g.144186868A>T | CA365948818 | STX11 | c.241A>T (p.Ser81Cys) c.319A>T (p.Ser107Cys) | |
| 6 | g.144186869G>A | CA365948821 | STX11 | c.242G>A (p.Ser81Asn) c.320G>A (p.Ser107Asn) | ClinVar |
| 6 | g.144186869G>C | CA365948822 | STX11 | c.242G>C (p.Ser81Thr) c.320G>C (p.Ser107Thr) | |
| 6 | g.144186869G>T | CA365948823 | STX11 | c.242G>T (p.Ser81Ile) c.320G>T (p.Ser107Ile) | |
| 6 | g.144186870C>A | CA365948824 | STX11 | c.243C>A (p.Ser81Arg) c.321C>A (p.Ser107Arg) | |
| 6 | g.144186870C>G | CA365948825 | STX11 | c.243C>G (p.Ser81Arg) c.321C>G (p.Ser107Arg) | |
| 6 | g.144186870C>T | CA452731097 | STX11 | c.243C>T (p.Ser81=) c.321C>T (p.Ser107=) | ClinVar gnomAD v4 |
| 6 | g.144186871A>C | CA365948826 | STX11 | c.244A>C (p.Ile82Leu) c.322A>C (p.Ile108Leu) | |
| 6 | g.144186871A>G | CA365948827 | STX11 | c.244A>G (p.Ile82Val) c.322A>G (p.Ile108Val) | |
| 6 | g.144186871A>T | CA365948828 | STX11 | c.244A>T (p.Ile82Phe) c.322A>T (p.Ile108Phe) | |
| 6 | g.144186872T>A | CA365948829 | STX11 | c.245T>A (p.Ile82Asn) c.323T>A (p.Ile108Asn) | |
| 6 | g.144186872T>C | CA365948830 | STX11 | c.245T>C (p.Ile82Thr) c.323T>C (p.Ile108Thr) | |
| 6 | g.144186872T>G | CA365948831 | STX11 | c.245T>G (p.Ile82Ser) c.323T>G (p.Ile108Ser) | |
| 6 | g.144186873C>A | CA452731100 | STX11 | c.246C>A (p.Ile82=) c.324C>A (p.Ile108=) | |
| 6 | g.144186873C= | CA1669582548 | STX11 | c.246C= (p.Ile82=) c.324C= (p.Ile108=) | |
| 6 | g.144186873C>G | CA365948832 | STX11 | c.246C>G (p.Ile82Met) c.324C>G (p.Ile108Met) | gnomAD v4 |
| 6 | g.144186873C>T | CA4031662 | STX11 | c.246C>T (p.Ile82=) c.324C>T (p.Ile108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186874A= | CA1669582549 | STX11 | c.247A= (p.Lys83=) c.325A= (p.Lys109=) | |
| 6 | g.144186874A>C | CA365948834 | STX11 | c.247A>C (p.Lys83Gln) c.325A>C (p.Lys109Gln) | |
| 6 | g.144186874A>G | CA4031663 | STX11 | c.247A>G (p.Lys83Glu) c.325A>G (p.Lys109Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186874A>T | CA365948833 | STX11 | c.247A>T (p.Lys83Ter) c.325A>T (p.Lys109Ter) | |
| 6 | g.144186875A>C | CA365948835 | STX11 | c.248A>C (p.Lys83Thr) c.326A>C (p.Lys109Thr) | |
| 6 | g.144186875A>G | CA365948836 | STX11 | c.248A>G (p.Lys83Arg) c.326A>G (p.Lys109Arg) | |
| 6 | g.144186875A>T | CA365948837 | STX11 | c.248A>T (p.Lys83Met) c.326A>T (p.Lys109Met) | |
| 6 | g.144186876G>A | CA452731104 | STX11 | c.249G>A (p.Lys83=) c.327G>A (p.Lys109=) | |
| 6 | g.144186876G>C | CA365948838 | STX11 | c.249G>C (p.Lys83Asn) c.327G>C (p.Lys109Asn) | gnomAD v4 |
| 6 | g.144186876G>T | CA365948839 | STX11 | c.249G>T (p.Lys83Asn) c.327G>T (p.Lys109Asn) | |
| 6 | g.144186877C>A | CA365948841 | STX11 | c.250C>A (p.Arg84Ser) c.328C>A (p.Arg110Ser) | |
| 6 | g.144186877C= | CA1669582550 | STX11 | c.250C= (p.Arg84=) c.328C= (p.Arg110=) | |
| 6 | g.144186877C>G | CA4031664 | STX11 | c.250C>G (p.Arg84Gly) c.328C>G (p.Arg110Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186877C>T | CA365948840 | STX11 | c.250C>T (p.Arg84Cys) c.328C>T (p.Arg110Cys) | |
| 6 | g.144186878G>A | CA365948842 | STX11 | c.251G>A (p.Arg84His) c.329G>A (p.Arg110His) | gnomAD v4 |
| 6 | g.144186878G>C | CA365948843 | STX11 | c.251G>C (p.Arg84Pro) c.329G>C (p.Arg110Pro) | |
| 6 | g.144186878G>T | CA365948844 | STX11 | c.251G>T (p.Arg84Leu) c.329G>T (p.Arg110Leu) | gnomAD v4 |
| 6 | g.144186879C>A | CA452731109 | STX11 | c.252C>A (p.Arg84=) c.330C>A (p.Arg110=) | |
| 6 | g.144186879C= | CA1669582551 | STX11 | c.252C= (p.Arg84=) c.330C= (p.Arg110=) | |
| 6 | g.144186879C>G | CA452731110 | STX11 | c.252C>G (p.Arg84=) c.330C>G (p.Arg110=) | dbSNP |
| 6 | g.144186879C>T | CA452731111 | STX11 | c.252C>T (p.Arg84=) c.330C>T (p.Arg110=) | COSMIC |
| 6 | g.144186880G>A | CA365948845 | STX11 | c.253G>A (p.Asp85Asn) c.331G>A (p.Asp111Asn) | COSMIC |
| 6 | g.144186880G>C | CA365948846 | STX11 | c.253G>C (p.Asp85His) c.331G>C (p.Asp111His) | |
| 6 | g.144186880G>T | CA365948847 | STX11 | c.253G>T (p.Asp85Tyr) c.331G>T (p.Asp111Tyr) | gnomAD v4 |
| 6 | g.144186881A= | CA1669582552 | STX11 | c.254A= (p.Asp85=) c.332A= (p.Asp111=) | |
| 6 | g.144186881A>C | CA365948849 | STX11 | c.254A>C (p.Asp85Ala) c.332A>C (p.Asp111Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186881A>G | CA365948850 | STX11 | c.254A>G (p.Asp85Gly) c.332A>G (p.Asp111Gly) | |
| 6 | g.144186881A>T | CA365948848 | STX11 | c.254A>T (p.Asp85Val) c.332A>T (p.Asp111Val) | |
| 6 | g.144186882C>A | CA365948852 | STX11 | c.255C>A (p.Asp85Glu) c.333C>A (p.Asp111Glu) | |
| 6 | g.144186882C>G | CA365948851 | STX11 | c.255C>G (p.Asp85Glu) c.333C>G (p.Asp111Glu) | |
| 6 | g.144186882C>T | CA452731116 | STX11 | c.255C>T (p.Asp85=) c.333C>T (p.Asp111=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.144186883A= | CA1669582553 | STX11 | c.256A= (p.Thr86=) c.334A= (p.Thr112=) | |
| 6 | g.144186883A>C | CA365948854 | STX11 | c.256A>C (p.Thr86Pro) c.334A>C (p.Thr112Pro) | dbSNP |
| 6 | g.144186883A>G | CA365948853 | STX11 | c.256A>G (p.Thr86Ala) c.334A>G (p.Thr112Ala) | |
| 6 | g.144186883A>T | CA365948855 | STX11 | c.256A>T (p.Thr86Ser) c.334A>T (p.Thr112Ser) | gnomAD v4 |
| 6 | g.144186884C>A | CA365948856 | STX11 | c.257C>A (p.Thr86Asn) c.335C>A (p.Thr112Asn) | |
| 6 | g.144186884C>G | CA365948857 | STX11 | c.257C>G (p.Thr86Ser) c.335C>G (p.Thr112Ser) | |
| 6 | g.144186884C>T | CA365948858 | STX11 | c.257C>T (p.Thr86Ile) c.335C>T (p.Thr112Ile) | |
| 6 | g.144186885C>A | CA452731118 | STX11 | c.258C>A (p.Thr86=) c.336C>A (p.Thr112=) | |
| 6 | g.144186885C>G | CA452731119 | STX11 | c.258C>G (p.Thr86=) c.336C>G (p.Thr112=) | |
| 6 | g.144186885C>T | CA452731120 | STX11 | c.258C>T (p.Thr86=) c.336C>T (p.Thr112=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.144186886A>C | CA365948859 | STX11 | c.259A>C (p.Asn87His) c.337A>C (p.Asn113His) | |
| 6 | g.144186886A>G | CA365948860 | STX11 | c.259A>G (p.Asn87Asp) c.337A>G (p.Asn113Asp) | gnomAD v4 |
| 6 | g.144186886A>T | CA365948861 | STX11 | c.259A>T (p.Asn87Tyr) c.337A>T (p.Asn113Tyr) | |
| 6 | g.144186887A= | CA1669582554 | STX11 | c.260A= (p.Asn87=) c.338A= (p.Asn113=) | |
| 6 | g.144186887A>C | CA365948862 | STX11 | c.260A>C (p.Asn87Thr) c.338A>C (p.Asn113Thr) | ClinVar dbSNP |
| 6 | g.144186887A>G | CA365948863 | STX11 | c.260A>G (p.Asn87Ser) c.338A>G (p.Asn113Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186887A>T | CA4031665 | STX11 | c.260A>T (p.Asn87Ile) c.338A>T (p.Asn113Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186888C>A | CA365948864 | STX11 | c.261C>A (p.Asn87Lys) c.339C>A (p.Asn113Lys) | |
| 6 | g.144186888C= | CA1669582555 | STX11 | c.261C= (p.Asn87=) c.339C= (p.Asn113=) | |
| 6 | g.144186888C>G | CA365948865 | STX11 | c.261C>G (p.Asn87Lys) c.339C>G (p.Asn113Lys) | |
| 6 | g.144186888C>T | CA452731124 | STX11 | c.261C>T (p.Asn87=) c.339C>T (p.Asn113=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186889T>A | CA365948866 | STX11 | c.262T>A (p.Ser88Thr) c.340T>A (p.Ser114Thr) | |
| 6 | g.144186889T>C | CA365948867 | STX11 | c.262T>C (p.Ser88Pro) c.340T>C (p.Ser114Pro) | gnomAD v4 |
| 6 | g.144186889T>G | CA365948868 | STX11 | c.262T>G (p.Ser88Ala) c.340T>G (p.Ser114Ala) | |
| 6 | g.144186890C>A | CA365948871 | STX11 | c.263C>A (p.Ser88Tyr) c.341C>A (p.Ser114Tyr) | |
| 6 | g.144186890C>G | CA365948870 | STX11 | c.263C>G (p.Ser88Cys) c.341C>G (p.Ser114Cys) | |
| 6 | g.144186890C>T | CA365948869 | STX11 | c.263C>T (p.Ser88Phe) c.341C>T (p.Ser114Phe) | gnomAD v4 |
| 6 | g.144186891C>A | CA452731130 | STX11 | c.264C>A (p.Ser88=) c.342C>A (p.Ser114=) | |
| 6 | g.144186891C= | CA1669582556 | STX11 | c.264C= (p.Ser88=) c.342C= (p.Ser114=) | |
| 6 | g.144186891C>G | CA452731131 | STX11 | c.264C>G (p.Ser88=) c.342C>G (p.Ser114=) | |
| 6 | g.144186891C>T | CA4031666 | STX11 | c.264C>T (p.Ser88=) c.342C>T (p.Ser114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186892A= | CA1669582557 | STX11 | c.265A= (p.Ile89=) c.343A= (p.Ile115=) | |
| 6 | g.144186892A>C | CA365948872 | STX11 | c.265A>C (p.Ile89Leu) c.343A>C (p.Ile115Leu) | |
| 6 | g.144186892A>G | CA365948873 | STX11 | c.265A>G (p.Ile89Val) c.343A>G (p.Ile115Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186892A>T | CA365948874 | STX11 | c.265A>T (p.Ile89Phe) c.343A>T (p.Ile115Phe) |