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