UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127666157T>A | CA1879911184 | STXBP1 | c.622-9T>A (n.622-9T>A) c.664-9T>A (n.664-9T>A) c.*306-9T>A (n.*306-9T>A) c.*1528-9T>A (n.*1528-9T>A) c.606-9T>A n.500-9T>A c.655-9T>A (n.655-9T>A) | dbSNP |
| 9 | g.127666157T= | CA1879911183 | STXBP1 | c.622-9T= (n.622-9T=) c.664-9T= (n.664-9T=) c.*306-9T= (n.*306-9T=) c.*1528-9T= (n.*1528-9T=) c.606-9T= n.500-9T= c.655-9T= (n.655-9T=) | |
| 9 | g.127666158T>C | CA1879911187 | STXBP1 | c.622-8T>C (n.622-8T>C) c.664-8T>C (n.664-8T>C) c.*306-8T>C (n.*306-8T>C) c.*1528-8T>C (n.*1528-8T>C) c.606-8T>C n.500-8T>C c.655-8T>C (n.655-8T>C) | dbSNP |
| 9 | g.127666158T= | CA1879911186 | STXBP1 | c.622-8T= (n.622-8T=) c.664-8T= (n.664-8T=) c.*306-8T= (n.*306-8T=) c.*1528-8T= (n.*1528-8T=) c.606-8T= n.500-8T= c.655-8T= (n.655-8T=) | |
| 9 | g.127666159C= | CA1879911189 | STXBP1 | c.622-7C= (n.622-7C=) c.664-7C= (n.664-7C=) c.*306-7C= (n.*306-7C=) c.*1528-7C= (n.*1528-7C=) c.606-7C= n.500-7C= c.655-7C= (n.655-7C=) | |
| 9 | g.127666159C>T | CA1879911190 | STXBP1 | c.622-7C>T (n.622-7C>T) c.664-7C>T (n.664-7C>T) c.*306-7C>T (n.*306-7C>T) c.*1528-7C>T (n.*1528-7C>T) c.606-7C>T n.500-7C>T c.655-7C>T (n.655-7C>T) | dbSNP |
| 9 | g.127666160C= | CA1879911192 | STXBP1 | c.622-6C= (n.622-6C=) c.664-6C= (n.664-6C=) c.*306-6C= (n.*306-6C=) c.*1528-6C= (n.*1528-6C=) c.606-6C= n.500-6C= c.655-6C= (n.655-6C=) | |
| 9 | g.127666160C>T | CA5248361 | STXBP1 | c.622-6C>T (n.622-6C>T) c.664-6C>T (n.664-6C>T) c.*306-6C>T (n.*306-6C>T) c.*1528-6C>T (n.*1528-6C>T) c.606-6C>T n.500-6C>T c.655-6C>T (n.655-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127666161C>A | CA1879911195 | STXBP1 | c.622-5C>A (n.622-5C>A) c.664-5C>A (n.664-5C>A) c.*306-5C>A (n.*306-5C>A) c.*1528-5C>A (n.*1528-5C>A) c.606-5C>A n.500-5C>A c.655-5C>A (n.655-5C>A) | dbSNP |
| 9 | g.127666161C= | CA1879911194 | STXBP1 | c.622-5C= (n.622-5C=) c.664-5C= (n.664-5C=) c.*306-5C= (n.*306-5C=) c.*1528-5C= (n.*1528-5C=) c.606-5C= n.500-5C= c.655-5C= (n.655-5C=) | |
| 9 | g.127666161C>G | CA2579458626 | STXBP1 | c.622-5C>G (n.622-5C>G) c.664-5C>G (n.664-5C>G) c.*306-5C>G (n.*306-5C>G) c.*1528-5C>G (n.*1528-5C>G) c.606-5C>G n.500-5C>G c.655-5C>G (n.655-5C>G) | gnomAD v4 |
| 9 | g.127666162C>T | CA2691773484 | STXBP1 | c.622-4C>T (n.622-4C>T) c.664-4C>T (n.664-4C>T) c.*306-4C>T (n.*306-4C>T) c.*1528-4C>T (n.*1528-4C>T) c.606-4C>T n.500-4C>T c.655-4C>T (n.655-4C>T) | gnomAD v4 |
| 9 | g.127666164A>C | CA374933654 | STXBP1 | c.622-2A>C (n.622-2A>C) c.664-2A>C (n.664-2A>C) c.*306-2A>C (n.*306-2A>C) c.*1528-2A>C (n.*1528-2A>C) c.606-2A>C n.500-2A>C c.655-2A>C (n.655-2A>C) | |
| 9 | g.127666164A>G | CA374933652 | STXBP1 | c.622-2A>G (n.622-2A>G) c.664-2A>G (n.664-2A>G) c.*306-2A>G (n.*306-2A>G) c.*1528-2A>G (n.*1528-2A>G) c.606-2A>G n.500-2A>G c.655-2A>G (n.655-2A>G) | |
| 9 | g.127666164A>T | CA374933650 | STXBP1 | c.622-2A>T (n.622-2A>T) c.664-2A>T (n.664-2A>T) c.*306-2A>T (n.*306-2A>T) c.*1528-2A>T (n.*1528-2A>T) c.606-2A>T n.500-2A>T c.655-2A>T (n.655-2A>T) | |
| 9 | g.127666165G>A | CA374933657 | STXBP1 | c.622-1G>A (n.622-1G>A) c.664-1G>A (n.664-1G>A) c.*306-1G>A (n.*306-1G>A) c.*1528-1G>A (n.*1528-1G>A) c.606-1G>A n.500-1G>A c.655-1G>A (n.655-1G>A) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.127666165G>C | CA374933658 | STXBP1 | c.622-1G>C (n.622-1G>C) c.664-1G>C (n.664-1G>C) c.*306-1G>C (n.*306-1G>C) c.*1528-1G>C (n.*1528-1G>C) c.606-1G>C n.500-1G>C c.655-1G>C (n.655-1G>C) | ClinVar dbSNP |
| 9 | g.127666165G= | CA1879911198 | STXBP1 | c.622-1G= (n.622-1G=) c.664-1G= (n.664-1G=) c.*306-1G= (n.*306-1G=) c.*1528-1G= (n.*1528-1G=) c.606-1G= n.500-1G= c.655-1G= (n.655-1G=) | |
| 9 | g.127666165G>T | CA374933660 | STXBP1 | c.622-1G>T (n.622-1G>T) c.664-1G>T (n.664-1G>T) c.*306-1G>T (n.*306-1G>T) c.*1528-1G>T (n.*1528-1G>T) c.606-1G>T n.500-1G>T c.655-1G>T (n.655-1G>T) | |
| 9 | g.127666167del | CA2499219620 | STXBP1 | c.623del c.665del c.*307del c.*1529del c.607del n.501del c.656del | ClinVar dbSNP |
| 9 | g.127666166G>A | CA5248362 | STXBP1 | c.622G>A (p.Gly208Ser) c.664G>A (p.Gly222Ser) c.*306G>A (n.*306G>A) c.*1528G>A (n.*1528G>A) c.606G>A n.500G>A c.655G>A (p.Gly219Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127666166G>C | CA374933670 | STXBP1 | c.622G>C (p.Gly208Arg) c.664G>C (p.Gly222Arg) c.*306G>C (n.*306G>C) c.*1528G>C (n.*1528G>C) c.606G>C n.500G>C c.655G>C (p.Gly219Arg) | |
| 9 | g.127666166G= | CA1879911206 | STXBP1 | c.622G= (p.Gly208=) c.664G= (p.Gly222=) c.*306G= (n.*306G=) c.*1528G= (n.*1528G=) c.606G= n.500G= c.655G= (p.Gly219=) | |
| 9 | g.127666166G>T | CA374933672 | STXBP1 | c.622G>T (p.Gly208Cys) c.664G>T (p.Gly222Cys) c.*306G>T (n.*306G>T) c.*1528G>T (n.*1528G>T) c.606G>T n.500G>T c.655G>T (p.Gly219Cys) | |
| 9 | g.127666167G>A | CA374933675 | STXBP1 | c.623G>A (p.Gly208Asp) c.665G>A (p.Gly222Asp) c.*307G>A (n.*307G>A) c.*1529G>A (n.*1529G>A) c.607G>A n.501G>A c.656G>A (p.Gly219Asp) | |
| 9 | g.127666167G>C | CA374933676 | STXBP1 | c.623G>C (p.Gly208Ala) c.665G>C (p.Gly222Ala) c.*307G>C (n.*307G>C) c.*1529G>C (n.*1529G>C) c.607G>C n.501G>C c.656G>C (p.Gly219Ala) | |
| 9 | g.127666167G>T | CA374933678 | STXBP1 | c.623G>T (p.Gly208Val) c.665G>T (p.Gly222Val) c.*307G>T (n.*307G>T) c.*1529G>T (n.*1529G>T) c.607G>T n.501G>T c.656G>T (p.Gly219Val) | |
| 9 | g.127666168C>A | CA467225310 | STXBP1 | c.624C>A (p.Gly208=) c.666C>A (p.Gly222=) c.*308C>A (n.*308C>A) c.*1530C>A (n.*1530C>A) c.608C>A n.502C>A c.657C>A (p.Gly219=) | |
| 9 | g.127666168C= | CA1879911210 | STXBP1 | c.624C= (p.Gly208=) c.666C= (p.Gly222=) c.*308C= (n.*308C=) c.*1530C= (n.*1530C=) c.608C= n.502C= c.657C= (p.Gly219=) | |
| 9 | g.127666168C>G | CA467225315 | STXBP1 | c.624C>G (p.Gly208=) c.666C>G (p.Gly222=) c.*308C>G (n.*308C>G) c.*1530C>G (n.*1530C>G) c.608C>G n.502C>G c.657C>G (p.Gly219=) | |
| 9 | g.127666168C>T | CA5248363 | STXBP1 | c.624C>T (p.Gly208=) c.666C>T (p.Gly222=) c.*308C>T (n.*308C>T) c.*1530C>T (n.*1530C>T) c.608C>T n.502C>T c.657C>T (p.Gly219=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127666169C>A | CA374933682 | STXBP1 | c.625C>A (p.Pro209Thr) c.667C>A (p.Pro223Thr) c.*309C>A (n.*309C>A) c.*1531C>A (n.*1531C>A) c.609C>A n.503C>A c.658C>A (p.Pro220Thr) | |
| 9 | g.127666169C= | CA1879911214 | STXBP1 | c.625C= (p.Pro209=) c.667C= (p.Pro223=) c.*309C= (n.*309C=) c.*1531C= (n.*1531C=) c.609C= n.503C= c.658C= (p.Pro220=) | |
| 9 | g.127666169C>G | CA374933683 | STXBP1 | c.625C>G (p.Pro209Ala) c.667C>G (p.Pro223Ala) c.*309C>G (n.*309C>G) c.*1531C>G (n.*1531C>G) c.609C>G n.503C>G c.658C>G (p.Pro220Ala) | |
| 9 | g.127666169C>T | CA5248364 | STXBP1 | c.625C>T (p.Pro209Ser) c.667C>T (p.Pro223Ser) c.*309C>T (n.*309C>T) c.*1531C>T (n.*1531C>T) c.609C>T n.503C>T c.658C>T (p.Pro220Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127666170C>A | CA374933687 | STXBP1 | c.626C>A (p.Pro209Gln) c.668C>A (p.Pro223Gln) c.*310C>A (n.*310C>A) c.*1532C>A (n.*1532C>A) c.610C>A n.504C>A c.659C>A (p.Pro220Gln) | |
| 9 | g.127666170C>G | CA374933691 | STXBP1 | c.626C>G (p.Pro209Arg) c.668C>G (p.Pro223Arg) c.*310C>G (n.*310C>G) c.*1532C>G (n.*1532C>G) c.610C>G n.504C>G c.659C>G (p.Pro220Arg) | |
| 9 | g.127666170C>T | CA374933689 | STXBP1 | c.626C>T (p.Pro209Leu) c.668C>T (p.Pro223Leu) c.*310C>T (n.*310C>T) c.*1532C>T (n.*1532C>T) c.610C>T n.504C>T c.659C>T (p.Pro220Leu) | |
| 9 | g.127666171A>C | CA467225333 | STXBP1 | c.627A>C (p.Pro209=) c.669A>C (p.Pro223=) c.*311A>C (n.*311A>C) c.*1533A>C (n.*1533A>C) c.611A>C n.505A>C c.660A>C (p.Pro220=) | ClinVar |
| 9 | g.127666171A>G | CA467225335 | STXBP1 | c.627A>G (p.Pro209=) c.669A>G (p.Pro223=) c.*311A>G (n.*311A>G) c.*1533A>G (n.*1533A>G) c.611A>G n.505A>G c.660A>G (p.Pro220=) | |
| 9 | g.127666171A>T | CA467225337 | STXBP1 | c.627A>T (p.Pro209=) c.669A>T (p.Pro223=) c.*311A>T (n.*311A>T) c.*1533A>T (n.*1533A>T) c.611A>T n.505A>T c.660A>T (p.Pro220=) | |
| 9 | g.127666172G>A | CA374933694 | STXBP1 | c.628G>A (p.Asp210Asn) c.670G>A (p.Asp224Asn) c.*312G>A (n.*312G>A) c.*1534G>A (n.*1534G>A) c.612G>A n.506G>A c.661G>A (p.Asp221Asn) | |
| 9 | g.127666172G>C | CA374933696 | STXBP1 | c.628G>C (p.Asp210His) c.670G>C (p.Asp224His) c.*312G>C (n.*312G>C) c.*1534G>C (n.*1534G>C) c.612G>C n.506G>C c.661G>C (p.Asp221His) | |
| 9 | g.127666172G>T | CA374933697 | STXBP1 | c.628G>T (p.Asp210Tyr) c.670G>T (p.Asp224Tyr) c.*312G>T (n.*312G>T) c.*1534G>T (n.*1534G>T) c.612G>T n.506G>T c.661G>T (p.Asp221Tyr) | |
| 9 | g.127666173A>C | CA374933699 | STXBP1 | c.629A>C (p.Asp210Ala) c.671A>C (p.Asp224Ala) c.*313A>C (n.*313A>C) c.*1535A>C (n.*1535A>C) c.613A>C n.507A>C c.662A>C (p.Asp221Ala) | |
| 9 | g.127666173A>G | CA374933701 | STXBP1 | c.629A>G (p.Asp210Gly) c.671A>G (p.Asp224Gly) c.*313A>G (n.*313A>G) c.*1535A>G (n.*1535A>G) c.613A>G n.507A>G c.662A>G (p.Asp221Gly) | |
| 9 | g.127666173A>T | CA374933703 | STXBP1 | c.629A>T (p.Asp210Val) c.671A>T (p.Asp224Val) c.*313A>T (n.*313A>T) c.*1535A>T (n.*1535A>T) c.613A>T n.507A>T c.662A>T (p.Asp221Val) | |
| 9 | g.127666174C>A | CA374933705 | STXBP1 | c.630C>A (p.Asp210Glu) c.672C>A (p.Asp224Glu) c.*314C>A (n.*314C>A) c.*1536C>A (n.*1536C>A) c.614C>A n.508C>A c.663C>A (p.Asp221Glu) | |
| 9 | g.127666174C>G | CA374933707 | STXBP1 | c.630C>G (p.Asp210Glu) c.672C>G (p.Asp224Glu) c.*314C>G (n.*314C>G) c.*1536C>G (n.*1536C>G) c.614C>G n.508C>G c.663C>G (p.Asp221Glu) | |
| 9 | g.127666174C>T | CA467225370 | STXBP1 | c.630C>T (p.Asp210=) c.672C>T (p.Asp224=) c.*314C>T (n.*314C>T) c.*1536C>T (n.*1536C>T) c.614C>T n.508C>T c.663C>T (p.Asp221=) | |
| 9 | g.127666175A>C | CA374933709 | STXBP1 | c.631A>C (p.Lys211Gln) c.673A>C (p.Lys225Gln) c.*315A>C (n.*315A>C) c.*1537A>C (n.*1537A>C) c.615A>C n.509A>C c.664A>C (p.Lys222Gln) | |
| 9 | g.127666175A>G | CA374933711 | STXBP1 | c.631A>G (p.Lys211Glu) c.673A>G (p.Lys225Glu) c.*315A>G (n.*315A>G) c.*1537A>G (n.*1537A>G) c.615A>G n.509A>G c.664A>G (p.Lys222Glu) | gnomAD v4 |
| 9 | g.127666175A>T | CA374933712 | STXBP1 | c.631A>T (p.Lys211Ter) c.673A>T (p.Lys225Ter) c.*315A>T (n.*315A>T) c.*1537A>T (n.*1537A>T) c.615A>T n.509A>T c.664A>T (p.Lys222Ter) | |
| 9 | g.127666176A>C | CA374933716 | STXBP1 | c.632A>C (p.Lys211Thr) c.674A>C (p.Lys225Thr) c.*316A>C (n.*316A>C) c.*1538A>C (n.*1538A>C) c.616A>C n.510A>C c.665A>C (p.Lys222Thr) | |
| 9 | g.127666176A>G | CA374933718 | STXBP1 | c.632A>G (p.Lys211Arg) c.674A>G (p.Lys225Arg) c.*316A>G (n.*316A>G) c.*1538A>G (n.*1538A>G) c.616A>G n.510A>G c.665A>G (p.Lys222Arg) | |
| 9 | g.127666176A>T | CA374933714 | STXBP1 | c.632A>T (p.Lys211Met) c.674A>T (p.Lys225Met) c.*316A>T (n.*316A>T) c.*1538A>T (n.*1538A>T) c.616A>T n.510A>T c.665A>T (p.Lys222Met) | |
| 9 | g.127666177G>A | CA467225382 | STXBP1 | c.633G>A (p.Lys211=) c.675G>A (p.Lys225=) c.*317G>A (n.*317G>A) c.*1539G>A (n.*1539G>A) c.617G>A n.511G>A c.666G>A (p.Lys222=) | ClinVar dbSNP |
| 9 | g.127666177G>C | CA374933722 | STXBP1 | c.633G>C (p.Lys211Asn) c.675G>C (p.Lys225Asn) c.*317G>C (n.*317G>C) c.*1539G>C (n.*1539G>C) c.617G>C n.511G>C c.666G>C (p.Lys222Asn) | |
| 9 | g.127666177G= | CA1879911221 | STXBP1 | c.633G= (p.Lys211=) c.675G= (p.Lys225=) c.*317G= (n.*317G=) c.*1539G= (n.*1539G=) c.617G= n.511G= c.666G= (p.Lys222=) | |
| 9 | g.127666177G>T | CA374933720 | STXBP1 | c.633G>T (p.Lys211Asn) c.675G>T (p.Lys225Asn) c.*317G>T (n.*317G>T) c.*1539G>T (n.*1539G>T) c.617G>T n.511G>T c.666G>T (p.Lys222Asn) | gnomAD v4 |
| 9 | g.127666178G>A | CA374933724 | STXBP1 | c.634G>A (p.Ala212Thr) c.676G>A (p.Ala226Thr) c.*318G>A (n.*318G>A) c.*1540G>A (n.*1540G>A) c.618G>A n.512G>A c.667G>A (p.Ala223Thr) | |
| 9 | g.127666178G>C | CA374933726 | STXBP1 | c.634G>C (p.Ala212Pro) c.676G>C (p.Ala226Pro) c.*318G>C (n.*318G>C) c.*1540G>C (n.*1540G>C) c.618G>C n.512G>C c.667G>C (p.Ala223Pro) | |
| 9 | g.127666178G>T | CA374933728 | STXBP1 | c.634G>T (p.Ala212Ser) c.676G>T (p.Ala226Ser) c.*318G>T (n.*318G>T) c.*1540G>T (n.*1540G>T) c.618G>T n.512G>T c.667G>T (p.Ala223Ser) | |
| 9 | g.127666179C>A | CA374933730 | STXBP1 | c.635C>A (p.Ala212Glu) c.677C>A (p.Ala226Glu) c.*319C>A (n.*319C>A) c.*1541C>A (n.*1541C>A) c.619C>A n.513C>A c.668C>A (p.Ala223Glu) | |
| 9 | g.127666179C>G | CA374933732 | STXBP1 | c.635C>G (p.Ala212Gly) c.677C>G (p.Ala226Gly) c.*319C>G (n.*319C>G) c.*1541C>G (n.*1541C>G) c.619C>G n.513C>G c.668C>G (p.Ala223Gly) | |
| 9 | g.127666179C>T | CA374933733 | STXBP1 | c.635C>T (p.Ala212Val) c.677C>T (p.Ala226Val) c.*319C>T (n.*319C>T) c.*1541C>T (n.*1541C>T) c.619C>T n.513C>T c.668C>T (p.Ala223Val) | gnomAD v4 |
| 9 | g.127666180A= | CA1879911226 | STXBP1 | c.636A= (p.Ala212=) c.678A= (p.Ala226=) c.*320A= (n.*320A=) c.*1542A= (n.*1542A=) c.620A= n.514A= c.669A= (p.Ala223=) | |
| 9 | g.127666180A>C | CA467225393 | STXBP1 | c.636A>C (p.Ala212=) c.678A>C (p.Ala226=) c.*320A>C (n.*320A>C) c.*1542A>C (n.*1542A>C) c.620A>C n.514A>C c.669A>C (p.Ala223=) | |
| 9 | g.127666180A>G | CA467225397 | STXBP1 | c.636A>G (p.Ala212=) c.678A>G (p.Ala226=) c.*320A>G (n.*320A>G) c.*1542A>G (n.*1542A>G) c.620A>G n.514A>G c.669A>G (p.Ala223=) | |
| 9 | g.127666180A>T | CA467225400 | STXBP1 | c.636A>T (p.Ala212=) c.678A>T (p.Ala226=) c.*320A>T (n.*320A>T) c.*1542A>T (n.*1542A>T) c.620A>T n.514A>T c.669A>T (p.Ala223=) | dbSNP |
| 9 | g.127666181C>A | CA374933735 | STXBP1 | c.637C>A (p.Arg213Ser) c.679C>A (p.Arg227Ser) c.*321C>A (n.*321C>A) c.*1543C>A (n.*1543C>A) c.621C>A n.515C>A c.670C>A (p.Arg224Ser) | |
| 9 | g.127666181C>G | CA374933738 | STXBP1 | c.637C>G (p.Arg213Gly) c.679C>G (p.Arg227Gly) c.*321C>G (n.*321C>G) c.*1543C>G (n.*1543C>G) c.621C>G n.515C>G c.670C>G (p.Arg224Gly) | |
| 9 | g.127666181C>T | CA374933737 | STXBP1 | c.637C>T (p.Arg213Cys) c.679C>T (p.Arg227Cys) c.*321C>T (n.*321C>T) c.*1543C>T (n.*1543C>T) c.621C>T n.515C>T c.670C>T (p.Arg224Cys) | ClinVar gnomAD v4 COSMIC COSMIC |
| 9 | g.127666182G>A | CA374933741 | STXBP1 | c.638G>A (p.Arg213His) c.680G>A (p.Arg227His) c.*322G>A (n.*322G>A) c.*1544G>A (n.*1544G>A) c.622G>A n.516G>A c.671G>A (p.Arg224His) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127666182G>C | CA374933743 | STXBP1 | c.638G>C (p.Arg213Pro) c.680G>C (p.Arg227Pro) c.*322G>C (n.*322G>C) c.*1544G>C (n.*1544G>C) c.622G>C n.516G>C c.671G>C (p.Arg224Pro) | dbSNP |
| 9 | g.127666182G= | CA1879911229 | STXBP1 | c.638G= (p.Arg213=) c.680G= (p.Arg227=) c.*322G= (n.*322G=) c.*1544G= (n.*1544G=) c.622G= n.516G= c.671G= (p.Arg224=) | |
| 9 | g.127666182G>T | CA374933745 | STXBP1 | c.638G>T (p.Arg213Leu) c.680G>T (p.Arg227Leu) c.*322G>T (n.*322G>T) c.*1544G>T (n.*1544G>T) c.622G>T n.516G>T c.671G>T (p.Arg224Leu) | gnomAD v4 |
| 9 | g.127666183C>A | CA467225423 | STXBP1 | c.639C>A (p.Arg213=) c.681C>A (p.Arg227=) c.*323C>A (n.*323C>A) c.*1545C>A (n.*1545C>A) c.623C>A n.517C>A c.672C>A (p.Arg224=) | |
| 9 | g.127666183C= | CA1879911240 | STXBP1 | c.639C= (p.Arg213=) c.681C= (p.Arg227=) c.*323C= (n.*323C=) c.*1545C= (n.*1545C=) c.623C= n.517C= c.672C= (p.Arg224=) | |
| 9 | g.127666183C>G | CA318835 | STXBP1 | c.639C>G (p.Arg213=) c.681C>G (p.Arg227=) c.*323C>G (n.*323C>G) c.*1545C>G (n.*1545C>G) c.623C>G n.517C>G c.672C>G (p.Arg224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127666183C>T | CA467225431 | STXBP1 | c.639C>T (p.Arg213=) c.681C>T (p.Arg227=) c.*323C>T (n.*323C>T) c.*1545C>T (n.*1545C>T) c.623C>T n.517C>T c.672C>T (p.Arg224=) | ClinVar dbSNP gnomAD v2 |
| 9 | g.127666184T>A | CA374933750 | STXBP1 | c.640T>A (p.Ser214Thr) c.682T>A (p.Ser228Thr) c.*324T>A (n.*324T>A) c.*1546T>A (n.*1546T>A) c.624T>A n.518T>A c.673T>A (p.Ser225Thr) | |
| 9 | g.127666184T>C | CA374933754 | STXBP1 | c.640T>C (p.Ser214Pro) c.682T>C (p.Ser228Pro) c.*324T>C (n.*324T>C) c.*1546T>C (n.*1546T>C) c.624T>C n.518T>C c.673T>C (p.Ser225Pro) | |
| 9 | g.127666184T>G | CA374933752 | STXBP1 | c.640T>G (p.Ser214Ala) c.682T>G (p.Ser228Ala) c.*324T>G (n.*324T>G) c.*1546T>G (n.*1546T>G) c.624T>G n.518T>G c.673T>G (p.Ser225Ala) | |
| 9 | g.127666185C>A | CA374933756 | STXBP1 | c.641C>A (p.Ser214Tyr) c.683C>A (p.Ser228Tyr) c.*325C>A (n.*325C>A) c.*1547C>A (n.*1547C>A) c.625C>A n.519C>A c.674C>A (p.Ser225Tyr) | |
| 9 | g.127666185C= | CA1879911245 | STXBP1 | c.641C= (p.Ser214=) c.683C= (p.Ser228=) c.*325C= (n.*325C=) c.*1547C= (n.*1547C=) c.625C= n.519C= c.674C= (p.Ser225=) | |
| 9 | g.127666185C>G | CA374933758 | STXBP1 | c.641C>G (p.Ser214Cys) c.683C>G (p.Ser228Cys) c.*325C>G (n.*325C>G) c.*1547C>G (n.*1547C>G) c.625C>G n.519C>G c.674C>G (p.Ser225Cys) | gnomAD v4 |
| 9 | g.127666185C>T | CA374933760 | STXBP1 | c.641C>T (p.Ser214Phe) c.683C>T (p.Ser228Phe) c.*325C>T (n.*325C>T) c.*1547C>T (n.*1547C>T) c.625C>T n.519C>T c.674C>T (p.Ser225Phe) | ClinVar dbSNP |
| 9 | g.127666187dup | CA2695211355 | STXBP1 | c.643dup (p.Gln215ProfsTer10) c.685dup (p.Gln229ProfsTer10) c.*327dup (n.*327dup) c.*1549dup (n.*1549dup) c.627dup n.521dup c.676dup (p.Gln226ProfsTer10) | |
| 9 | g.127666186C>A | CA467225445 | STXBP1 | c.642C>A (p.Ser214=) c.684C>A (p.Ser228=) c.*326C>A (n.*326C>A) c.*1548C>A (n.*1548C>A) c.626C>A n.520C>A c.675C>A (p.Ser225=) | |
| 9 | g.127666186C>G | CA467225446 | STXBP1 | c.642C>G (p.Ser214=) c.684C>G (p.Ser228=) c.*326C>G (n.*326C>G) c.*1548C>G (n.*1548C>G) c.626C>G n.520C>G c.675C>G (p.Ser225=) | |
| 9 | g.127666186C>T | CA467225448 | STXBP1 | c.642C>T (p.Ser214=) c.684C>T (p.Ser228=) c.*326C>T (n.*326C>T) c.*1548C>T (n.*1548C>T) c.626C>T n.520C>T c.675C>T (p.Ser225=) | |
| 9 | g.127666187C>A | CA374933762 | STXBP1 | c.643C>A (p.Gln215Lys) c.685C>A (p.Gln229Lys) c.*327C>A (n.*327C>A) c.*1549C>A (n.*1549C>A) c.627C>A n.521C>A c.676C>A (p.Gln226Lys) | |
| 9 | g.127666187C= | CA1879911252 | STXBP1 | c.643C= (p.Gln215=) c.685C= (p.Gln229=) c.*327C= (n.*327C=) c.*1549C= (n.*1549C=) c.627C= n.521C= c.676C= (p.Gln226=) | |
| 9 | g.127666187C>G | CA374933764 | STXBP1 | c.643C>G (p.Gln215Glu) c.685C>G (p.Gln229Glu) c.*327C>G (n.*327C>G) c.*1549C>G (n.*1549C>G) c.627C>G n.521C>G c.676C>G (p.Gln226Glu) | |
| 9 | g.127666187C>T | CA374933766 | STXBP1 | c.643C>T (p.Gln215Ter) c.685C>T (p.Gln229Ter) c.*327C>T (n.*327C>T) c.*1549C>T (n.*1549C>T) c.627C>T n.521C>T c.676C>T (p.Gln226Ter) | ClinVar dbSNP |
| 9 | g.127666188A>C | CA374933768 | STXBP1 | c.644A>C (p.Gln215Pro) c.686A>C (p.Gln229Pro) c.*328A>C (n.*328A>C) c.*1550A>C (n.*1550A>C) c.628A>C n.522A>C c.677A>C (p.Gln226Pro) | |
| 9 | g.127666188A>G | CA374933770 | STXBP1 | c.644A>G (p.Gln215Arg) c.686A>G (p.Gln229Arg) c.*328A>G (n.*328A>G) c.*1550A>G (n.*1550A>G) c.628A>G n.522A>G c.677A>G (p.Gln226Arg) | |
| 9 | g.127666188A>T | CA374933772 | STXBP1 | c.644A>T (p.Gln215Leu) c.686A>T (p.Gln229Leu) c.*328A>T (n.*328A>T) c.*1550A>T (n.*1550A>T) c.628A>T n.522A>T c.677A>T (p.Gln226Leu) | |
| 9 | g.127666189G>A | CA467225473 | STXBP1 | c.645G>A (p.Gln215=) c.687G>A (p.Gln229=) c.*329G>A (n.*329G>A) c.*1551G>A (n.*1551G>A) c.629G>A n.523G>A c.678G>A (p.Gln226=) | |
| 9 | g.127666189G>C | CA374933774 | STXBP1 | c.645G>C (p.Gln215His) c.687G>C (p.Gln229His) c.*329G>C (n.*329G>C) c.*1551G>C (n.*1551G>C) c.629G>C n.523G>C c.678G>C (p.Gln226His) | |
| 9 | g.127666189G= | CA1879911255 | STXBP1 | c.645G= (p.Gln215=) c.687G= (p.Gln229=) c.*329G= (n.*329G=) c.*1551G= (n.*1551G=) c.629G= n.523G= c.678G= (p.Gln226=) | |
| 9 | g.127666189G>T | CA374933776 | STXBP1 | c.645G>T (p.Gln215His) c.687G>T (p.Gln229His) c.*329G>T (n.*329G>T) c.*1551G>T (n.*1551G>T) c.629G>T n.523G>T c.678G>T (p.Gln226His) | |
| 9 | g.127666190C>A | CA374933782 | STXBP1 | c.646C>A (p.Leu216Ile) c.688C>A (p.Leu230Ile) c.*330C>A (n.*330C>A) c.*1552C>A (n.*1552C>A) c.630C>A n.524C>A c.679C>A (p.Leu227Ile) | gnomAD v4 |
| 9 | g.127666190C>G | CA374933780 | STXBP1 | c.646C>G (p.Leu216Val) c.688C>G (p.Leu230Val) c.*330C>G (n.*330C>G) c.*1552C>G (n.*1552C>G) c.630C>G n.524C>G c.679C>G (p.Leu227Val) | |
| 9 | g.127666190C>T | CA374933779 | STXBP1 | c.646C>T (p.Leu216Phe) c.688C>T (p.Leu230Phe) c.*330C>T (n.*330C>T) c.*1552C>T (n.*1552C>T) c.630C>T n.524C>T c.679C>T (p.Leu227Phe) | |
| 9 | g.127666192_127666194dup | CA1139661186 | STXBP1 | c.648_650dup (p.Leu217_Ile218insLeu) c.690_692dup (p.Leu231_Ile232insLeu) c.*332_*334dup (n.*332_*334dup) c.*1554_*1556dup (n.*1554_*1556dup) c.632_634dup n.526_528dup c.681_683dup (p.Leu228_Ile229insLeu) | ClinVar dbSNP |
| 9 | g.127666191T>A | CA374933785 | STXBP1 | c.647T>A (p.Leu216His) c.689T>A (p.Leu230His) c.*331T>A (n.*331T>A) c.*1553T>A (n.*1553T>A) c.631T>A n.525T>A c.680T>A (p.Leu227His) | |
| 9 | g.127666191T>C | CA374933786 | STXBP1 | c.647T>C (p.Leu216Pro) c.689T>C (p.Leu230Pro) c.*331T>C (n.*331T>C) c.*1553T>C (n.*1553T>C) c.631T>C n.525T>C c.680T>C (p.Leu227Pro) | |
| 9 | g.127666191T>G | CA374933788 | STXBP1 | c.647T>G (p.Leu216Arg) c.689T>G (p.Leu230Arg) c.*331T>G (n.*331T>G) c.*1553T>G (n.*1553T>G) c.631T>G n.525T>G c.680T>G (p.Leu227Arg) | |
| 9 | g.127666192C>A | CA467225496 | STXBP1 | c.648C>A (p.Leu216=) c.690C>A (p.Leu230=) c.*332C>A (n.*332C>A) c.*1554C>A (n.*1554C>A) c.632C>A n.526C>A c.681C>A (p.Leu227=) | |
| 9 | g.127666192C= | CA1879911264 | STXBP1 | c.648C= (p.Leu216=) c.690C= (p.Leu230=) c.*332C= (n.*332C=) c.*1554C= (n.*1554C=) c.632C= n.526C= c.681C= (p.Leu227=) | |
| 9 | g.127666192C>G | CA5248365 | STXBP1 | c.648C>G (p.Leu216=) c.690C>G (p.Leu230=) c.*332C>G (n.*332C>G) c.*1554C>G (n.*1554C>G) c.632C>G n.526C>G c.681C>G (p.Leu227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127666192C>T | CA467225499 | STXBP1 | c.648C>T (p.Leu216=) c.690C>T (p.Leu230=) c.*332C>T (n.*332C>T) c.*1554C>T (n.*1554C>T) c.632C>T n.526C>T c.681C>T (p.Leu227=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127666192_127666199delinsT | CA2580079581 | STXBP1 | c.648_655delinsT (p.Leu217TrpfsTer15) c.690_697delinsT (p.Leu231TrpfsTer15) c.*332_*339delinsT (n.*332_*339delinsT) c.*1554_*1561delinsT (n.*1554_*1561delinsT) c.632_639delinsT n.526_533delinsT c.681_688delinsT (p.Leu228TrpfsTer15) | ClinVar |
| 9 | g.127666193C>A | CA374933791 | STXBP1 | c.649C>A (p.Leu217Met) c.691C>A (p.Leu231Met) c.*333C>A (n.*333C>A) c.*1555C>A (n.*1555C>A) c.633C>A n.527C>A c.682C>A (p.Leu228Met) | |
| 9 | g.127666193C= | CA1879911267 | STXBP1 | c.649C= (p.Leu217=) c.691C= (p.Leu231=) c.*333C= (n.*333C=) c.*1555C= (n.*1555C=) c.633C= n.527C= c.682C= (p.Leu228=) | |
| 9 | g.127666193C>G | CA374933793 | STXBP1 | c.649C>G (p.Leu217Val) c.691C>G (p.Leu231Val) c.*333C>G (n.*333C>G) c.*1555C>G (n.*1555C>G) c.633C>G n.527C>G c.682C>G (p.Leu228Val) | |
| 9 | g.127666193C>T | CA467225505 | STXBP1 | c.649C>T (p.Leu217=) c.691C>T (p.Leu231=) c.*333C>T (n.*333C>T) c.*1555C>T (n.*1555C>T) c.633C>T n.527C>T c.682C>T (p.Leu228=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127666194T>A | CA374933798 | STXBP1 | c.650T>A (p.Leu217Gln) c.692T>A (p.Leu231Gln) c.*334T>A (n.*334T>A) c.*1556T>A (n.*1556T>A) c.634T>A n.528T>A c.683T>A (p.Leu228Gln) | |
| 9 | g.127666194T>C | CA374933800 | STXBP1 | c.650T>C (p.Leu217Pro) c.692T>C (p.Leu231Pro) c.*334T>C (n.*334T>C) c.*1556T>C (n.*1556T>C) c.634T>C n.528T>C c.683T>C (p.Leu228Pro) | ClinVar |
| 9 | g.127666194T>G | CA374933802 | STXBP1 | c.650T>G (p.Leu217Arg) c.692T>G (p.Leu231Arg) c.*334T>G (n.*334T>G) c.*1556T>G (n.*1556T>G) c.634T>G n.528T>G c.683T>G (p.Leu228Arg) | |
| 9 | g.127666194dup | CA658822746 | STXBP1 | c.650dup (p.Ile218AspfsTer7) c.692dup (p.Ile232AspfsTer7) c.*334dup (n.*334dup) c.*1556dup (n.*1556dup) c.634dup n.528dup c.683dup (p.Ile229AspfsTer7) | ClinVar dbSNP |
| 9 | g.127666195G>A | CA467225525 | STXBP1 | c.651G>A (p.Leu217=) c.693G>A (p.Leu231=) c.*335G>A (n.*335G>A) c.*1557G>A (n.*1557G>A) c.635G>A n.529G>A c.684G>A (p.Leu228=) | |
| 9 | g.127666195G>C | CA467225528 | STXBP1 | c.651G>C (p.Leu217=) c.693G>C (p.Leu231=) c.*335G>C (n.*335G>C) c.*1557G>C (n.*1557G>C) c.635G>C n.529G>C c.684G>C (p.Leu228=) | |
| 9 | g.127666195G>T | CA467225533 | STXBP1 | c.651G>T (p.Leu217=) c.693G>T (p.Leu231=) c.*335G>T (n.*335G>T) c.*1557G>T (n.*1557G>T) c.635G>T n.529G>T c.684G>T (p.Leu228=) | |
| 9 | g.127666196A>C | CA374933806 | STXBP1 | c.652A>C (p.Ile218Leu) c.694A>C (p.Ile232Leu) c.*336A>C (n.*336A>C) c.*1558A>C (n.*1558A>C) c.636A>C n.530A>C c.685A>C (p.Ile229Leu) | |
| 9 | g.127666196A>G | CA374933808 | STXBP1 | c.652A>G (p.Ile218Val) c.694A>G (p.Ile232Val) c.*336A>G (n.*336A>G) c.*1558A>G (n.*1558A>G) c.636A>G n.530A>G c.685A>G (p.Ile229Val) | |
| 9 | g.127666196A>T | CA374933811 | STXBP1 | c.652A>T (p.Ile218Phe) c.694A>T (p.Ile232Phe) c.*336A>T (n.*336A>T) c.*1558A>T (n.*1558A>T) c.636A>T n.530A>T c.685A>T (p.Ile229Phe) | |
| 9 | g.127666197T>A | CA374933817 | STXBP1 | c.653T>A (p.Ile218Asn) c.695T>A (p.Ile232Asn) c.*337T>A (n.*337T>A) c.*1559T>A (n.*1559T>A) c.637T>A n.531T>A c.686T>A (p.Ile229Asn) | ClinVar dbSNP |
| 9 | g.127666197T>C | CA374933819 | STXBP1 | c.653T>C (p.Ile218Thr) c.695T>C (p.Ile232Thr) c.*337T>C (n.*337T>C) c.*1559T>C (n.*1559T>C) c.637T>C n.531T>C c.686T>C (p.Ile229Thr) | |
| 9 | g.127666197T>G | CA374933814 | STXBP1 | c.653T>G (p.Ile218Ser) c.695T>G (p.Ile232Ser) c.*337T>G (n.*337T>G) c.*1559T>G (n.*1559T>G) c.637T>G n.531T>G c.686T>G (p.Ile229Ser) | |
| 9 | g.127666197T= | CA1879911276 | STXBP1 | c.653T= (p.Ile218=) c.695T= (p.Ile232=) c.*337T= (n.*337T=) c.*1559T= (n.*1559T=) c.637T= n.531T= c.686T= (p.Ile229=) | |
| 9 | g.127666197_127666198del | CA2695211356 | STXBP1 | c.653_654del (p.Ile218ThrfsTer6) c.695_696del (p.Ile232ThrfsTer6) c.*337_*338del (n.*337_*338del) c.*1559_*1560del (n.*1559_*1560del) c.637_638del n.531_532del c.686_687del (p.Ile229ThrfsTer6) | |
| 9 | g.127666198C>A | CA467225545 | STXBP1 | c.654C>A (p.Ile218=) c.696C>A (p.Ile232=) c.*338C>A (n.*338C>A) c.*1560C>A (n.*1560C>A) c.638C>A n.532C>A c.687C>A (p.Ile229=) | |
| 9 | g.127666198C>G | CA374933823 | STXBP1 | c.654C>G (p.Ile218Met) c.696C>G (p.Ile232Met) c.*338C>G (n.*338C>G) c.*1560C>G (n.*1560C>G) c.638C>G n.532C>G c.687C>G (p.Ile229Met) | |
| 9 | g.127666198C>T | CA467225540 | STXBP1 | c.654C>T (p.Ile218=) c.696C>T (p.Ile232=) c.*338C>T (n.*338C>T) c.*1560C>T (n.*1560C>T) c.638C>T n.532C>T c.687C>T (p.Ile229=) | gnomAD v4 |
| 9 | g.127666199C>A | CA374933826 | STXBP1 | c.655C>A (p.Leu219Met) c.697C>A (p.Leu233Met) c.*339C>A (n.*339C>A) c.*1561C>A (n.*1561C>A) c.639C>A n.533C>A c.688C>A (p.Leu230Met) | |
| 9 | g.127666199C>G | CA374933828 | STXBP1 | c.655C>G (p.Leu219Val) c.697C>G (p.Leu233Val) c.*339C>G (n.*339C>G) c.*1561C>G (n.*1561C>G) c.639C>G n.533C>G c.688C>G (p.Leu230Val) | gnomAD v4 |
| 9 | g.127666199C>T | CA467225551 | STXBP1 | c.655C>T (p.Leu219=) c.697C>T (p.Leu233=) c.*339C>T (n.*339C>T) c.*1561C>T (n.*1561C>T) c.639C>T n.533C>T c.688C>T (p.Leu230=) | gnomAD v4 |
| 9 | g.127666199_127666202del | CA2580574409 | STXBP1 | c.655_658del (p.Leu219IlefsTer14) c.697_700del (p.Leu233IlefsTer14) c.*339_*342del (n.*339_*342del) c.*1561_*1564del (n.*1561_*1564del) c.639_642del n.533_536del c.688_691del (p.Leu230IlefsTer14) | |
| 9 | g.127666200T>A | CA374933831 | STXBP1 | c.656T>A (p.Leu219Gln) c.698T>A (p.Leu233Gln) c.*340T>A (n.*340T>A) c.*1562T>A (n.*1562T>A) c.640T>A n.534T>A c.689T>A (p.Leu230Gln) | |
| 9 | g.127666200T>C | CA374933837 | STXBP1 | c.656T>C (p.Leu219Pro) c.698T>C (p.Leu233Pro) c.*340T>C (n.*340T>C) c.*1562T>C (n.*1562T>C) c.640T>C n.534T>C c.689T>C (p.Leu230Pro) | ClinVar dbSNP |
| 9 | g.127666200T>G | CA374933839 | STXBP1 | c.656T>G (p.Leu219Arg) c.698T>G (p.Leu233Arg) c.*340T>G (n.*340T>G) c.*1562T>G (n.*1562T>G) c.640T>G n.534T>G c.689T>G (p.Leu230Arg) | |
| 9 | g.127666200T= | CA1879911548 | STXBP1 | c.656T= (p.Leu219=) c.698T= (p.Leu233=) c.*340T= (n.*340T=) c.*1562T= (n.*1562T=) c.640T= n.534T= c.689T= (p.Leu230=) | |
| 9 | g.127666201G>A | CA467225565 | STXBP1 | c.657G>A (p.Leu219=) c.699G>A (p.Leu233=) c.*341G>A (n.*341G>A) c.*1563G>A (n.*1563G>A) c.641G>A n.535G>A c.690G>A (p.Leu230=) | ClinVar |
| 9 | g.127666201G>C | CA467225563 | STXBP1 | c.657G>C (p.Leu219=) c.699G>C (p.Leu233=) c.*341G>C (n.*341G>C) c.*1563G>C (n.*1563G>C) c.641G>C n.535G>C c.690G>C (p.Leu230=) | |
| 9 | g.127666201G>T | CA467225560 | STXBP1 | c.657G>T (p.Leu219=) c.699G>T (p.Leu233=) c.*341G>T (n.*341G>T) c.*1563G>T (n.*1563G>T) c.641G>T n.535G>T c.690G>T (p.Leu230=) | |
| 9 | g.127666202G>A | CA374933840 | STXBP1 | c.658G>A (p.Asp220Asn) c.700G>A (p.Asp234Asn) c.*342G>A (n.*342G>A) c.*1564G>A (n.*1564G>A) c.642G>A n.536G>A c.691G>A (p.Asp231Asn) | |
| 9 | g.127666202G>C | CA374933852 | STXBP1 | c.658G>C (p.Asp220His) c.700G>C (p.Asp234His) c.*342G>C (n.*342G>C) c.*1564G>C (n.*1564G>C) c.642G>C n.536G>C c.691G>C (p.Asp231His) | |
| 9 | g.127666202G>T | CA374933842 | STXBP1 | c.658G>T (p.Asp220Tyr) c.700G>T (p.Asp234Tyr) c.*342G>T (n.*342G>T) c.*1564G>T (n.*1564G>T) c.642G>T n.536G>T c.691G>T (p.Asp231Tyr) | |
| 9 | g.127666203A>C | CA374933856 | STXBP1 | c.659A>C (p.Asp220Ala) c.701A>C (p.Asp234Ala) c.*343A>C (n.*343A>C) c.*1565A>C (n.*1565A>C) c.643A>C n.537A>C c.692A>C (p.Asp231Ala) | |
| 9 | g.127666203A>G | CA374933858 | STXBP1 | c.659A>G (p.Asp220Gly) c.701A>G (p.Asp234Gly) c.*343A>G (n.*343A>G) c.*1565A>G (n.*1565A>G) c.643A>G n.537A>G c.692A>G (p.Asp231Gly) | ClinVar |
| 9 | g.127666203A>T | CA374933861 | STXBP1 | c.659A>T (p.Asp220Val) c.701A>T (p.Asp234Val) c.*343A>T (n.*343A>T) c.*1565A>T (n.*1565A>T) c.643A>T n.537A>T c.692A>T (p.Asp231Val) | |
| 9 | g.127666204T>A | CA374933863 | STXBP1 | c.660T>A (p.Asp220Glu) c.702T>A (p.Asp234Glu) c.*344T>A (n.*344T>A) c.*1566T>A (n.*1566T>A) c.644T>A n.538T>A c.693T>A (p.Asp231Glu) | |
| 9 | g.127666204T>C | CA467225577 | STXBP1 | c.660T>C (p.Asp220=) c.702T>C (p.Asp234=) c.*344T>C (n.*344T>C) c.*1566T>C (n.*1566T>C) c.644T>C n.538T>C c.693T>C (p.Asp231=) | |
| 9 | g.127666204T>G | CA374933866 | STXBP1 | c.660T>G (p.Asp220Glu) c.702T>G (p.Asp234Glu) c.*344T>G (n.*344T>G) c.*1566T>G (n.*1566T>G) c.644T>G n.538T>G c.693T>G (p.Asp231Glu) | |
| 9 | g.127666205C>A | CA467225582 | STXBP1 | c.661C>A (p.Arg221=) c.703C>A (p.Arg235=) c.*345C>A (n.*345C>A) c.*1567C>A (n.*1567C>A) c.645C>A n.539C>A c.694C>A (p.Arg232=) | |
| 9 | g.127666205C= | CA1879911562 | STXBP1 | c.661C= (p.Arg221=) c.703C= (p.Arg235=) c.*345C= (n.*345C=) c.*1567C= (n.*1567C=) c.645C= n.539C= c.694C= (p.Arg232=) | |
| 9 | g.127666205C>G | CA318915 | STXBP1 | c.661C>G (p.Arg221Gly) c.703C>G (p.Arg235Gly) c.*345C>G (n.*345C>G) c.*1567C>G (n.*1567C>G) c.645C>G n.539C>G c.694C>G (p.Arg232Gly) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.127666205C>T | CA318859 | STXBP1 | c.661C>T (p.Arg221Ter) c.703C>T (p.Arg235Ter) c.*345C>T (n.*345C>T) c.*1567C>T (n.*1567C>T) c.645C>T n.539C>T c.694C>T (p.Arg232Ter) | ClinVar dbSNP |
| 9 | g.127666206G>A | CA303075 | STXBP1 | c.662G>A (p.Arg221Gln) c.704G>A (p.Arg235Gln) c.*346G>A (n.*346G>A) c.*1568G>A (n.*1568G>A) c.646G>A n.540G>A c.695G>A (p.Arg232Gln) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.127666206G>C | CA374933880 | STXBP1 | c.662G>C (p.Arg221Pro) c.704G>C (p.Arg235Pro) c.*346G>C (n.*346G>C) c.*1568G>C (n.*1568G>C) c.646G>C n.540G>C c.695G>C (p.Arg232Pro) | COSMIC COSMIC |
| 9 | g.127666206G= | CA1879911580 | STXBP1 | c.662G= (p.Arg221=) c.704G= (p.Arg235=) c.*346G= (n.*346G=) c.*1568G= (n.*1568G=) c.646G= n.540G= c.695G= (p.Arg232=) | |
| 9 | g.127666206G>T | CA374933878 | STXBP1 | c.662G>T (p.Arg221Leu) c.704G>T (p.Arg235Leu) c.*346G>T (n.*346G>T) c.*1568G>T (n.*1568G>T) c.646G>T n.540G>T c.695G>T (p.Arg232Leu) | |
| 9 | g.127666206_127666207insGG | CA1139661187 | STXBP1 | c.662_663insGG (p.Gly222GlufsTer13) c.704_705insGG (p.Gly236GlufsTer13) c.*346_*347insGG (n.*346_*347insGG) c.*1568_*1569insGG (n.*1568_*1569insGG) c.646_647insGG n.540_541insGG c.695_696insGG (p.Gly233GlufsTer13) | ClinVar dbSNP |
| 9 | g.127666207A>C | CA467225594 | STXBP1 | c.663A>C (p.Arg221=) c.705A>C (p.Arg235=) c.*347A>C (n.*347A>C) c.*1569A>C (n.*1569A>C) c.647A>C n.541A>C c.696A>C (p.Arg232=) | |
| 9 | g.127666207A>G | CA467225596 | STXBP1 | c.663A>G (p.Arg221=) c.705A>G (p.Arg235=) c.*347A>G (n.*347A>G) c.*1569A>G (n.*1569A>G) c.647A>G n.541A>G c.696A>G (p.Arg232=) | |
| 9 | g.127666207A>T | CA467225598 | STXBP1 | c.663A>T (p.Arg221=) c.705A>T (p.Arg235=) c.*347A>T (n.*347A>T) c.*1569A>T (n.*1569A>T) c.647A>T n.541A>T c.696A>T (p.Arg232=) | |
| 9 | g.127666208G>A | CA374933883 | STXBP1 | c.664G>A (p.Gly222Ser) c.706G>A (p.Gly236Ser) c.*348G>A (n.*348G>A) c.*1570G>A (n.*1570G>A) c.648G>A n.542G>A c.697G>A (p.Gly233Ser) | |
| 9 | g.127666208G>C | CA374933889 | STXBP1 | c.664G>C (p.Gly222Arg) c.706G>C (p.Gly236Arg) c.*348G>C (n.*348G>C) c.*1570G>C (n.*1570G>C) c.648G>C n.542G>C c.697G>C (p.Gly233Arg) | |
| 9 | g.127666208G>T | CA374933886 | STXBP1 | c.664G>T (p.Gly222Cys) c.706G>T (p.Gly236Cys) c.*348G>T (n.*348G>T) c.*1570G>T (n.*1570G>T) c.648G>T n.542G>T c.697G>T (p.Gly233Cys) | |
| 9 | g.127666209G>A | CA374933892 | STXBP1 | c.665G>A (p.Gly222Asp) c.707G>A (p.Gly236Asp) c.*349G>A (n.*349G>A) c.*1571G>A (n.*1571G>A) c.649G>A n.543G>A c.698G>A (p.Gly233Asp) | ClinVar dbSNP |
| 9 | g.127666209G>C | CA374933898 | STXBP1 | c.665G>C (p.Gly222Ala) c.707G>C (p.Gly236Ala) c.*349G>C (n.*349G>C) c.*1571G>C (n.*1571G>C) c.649G>C n.543G>C c.698G>C (p.Gly233Ala) | |
| 9 | g.127666209G= | CA1879911592 | STXBP1 | c.665G= (p.Gly222=) c.707G= (p.Gly236=) c.*349G= (n.*349G=) c.*1571G= (n.*1571G=) c.649G= n.543G= c.698G= (p.Gly233=) | |
| 9 | g.127666209G>T | CA374933895 | STXBP1 | c.665G>T (p.Gly222Val) c.707G>T (p.Gly236Val) c.*349G>T (n.*349G>T) c.*1571G>T (n.*1571G>T) c.649G>T n.543G>T c.698G>T (p.Gly233Val) | |
| 9 | g.127666209_127666216delinsGCTTTGAC | CA1879911590 | STXBP1 | c.665_672delinsGCTTTGAC (p.Gly222=) c.707_714delinsGCTTTGAC (p.Gly236=) c.*349_*356delinsGCTTTGAC (n.*349_*356delinsGCTTTGAC) c.*1571_*1578delinsGCTTTGAC (n.*1571_*1578delinsGCTTTGAC) c.649_656delinsGCTTTGAC n.543_550delinsGCTTTGAC c.698_705delinsGCTTTGAC (p.Gly233=) | |
| 9 | g.127666210C>A | CA467225618 | STXBP1 | c.666C>A (p.Gly222=) c.708C>A (p.Gly236=) c.*350C>A (n.*350C>A) c.*1572C>A (n.*1572C>A) c.650C>A n.544C>A c.699C>A (p.Gly233=) | |
| 9 | g.127666210C= | CA1879911607 | STXBP1 | c.666C= (p.Gly222=) c.708C= (p.Gly236=) c.*350C= (n.*350C=) c.*1572C= (n.*1572C=) c.650C= n.544C= c.699C= (p.Gly233=) | |
| 9 | g.127666210C>G | CA467225621 | STXBP1 | c.666C>G (p.Gly222=) c.708C>G (p.Gly236=) c.*350C>G (n.*350C>G) c.*1572C>G (n.*1572C>G) c.650C>G n.544C>G c.699C>G (p.Gly233=) | |
| 9 | g.127666210C>T | CA10629042 | STXBP1 | c.666C>T (p.Gly222=) c.708C>T (p.Gly236=) c.*350C>T (n.*350C>T) c.*1572C>T (n.*1572C>T) c.650C>T n.544C>T c.699C>T (p.Gly233=) | dbSNP gnomAD v4 |
| 9 | g.127666211_127666217del | CA16618739 | STXBP1 | c.667_673del (p.Phe223ProfsTer9) c.709_715del (p.Phe237ProfsTer9) c.*351_*357del (n.*351_*357del) c.*1573_*1579del (n.*1573_*1579del) c.651_657del n.545_551del c.700_706del (p.Phe234ProfsTer9) | ClinVar dbSNP |
| 9 | g.127666211T>A | CA374933902 | STXBP1 | c.667T>A (p.Phe223Ile) c.709T>A (p.Phe237Ile) c.*351T>A (n.*351T>A) c.*1573T>A (n.*1573T>A) c.651T>A n.545T>A c.700T>A (p.Phe234Ile) | |
| 9 | g.127666211T>C | CA374933904 | STXBP1 | c.667T>C (p.Phe223Leu) c.709T>C (p.Phe237Leu) c.*351T>C (n.*351T>C) c.*1573T>C (n.*1573T>C) c.651T>C n.545T>C c.700T>C (p.Phe234Leu) | |
| 9 | g.127666211T>G | CA374933906 | STXBP1 | c.667T>G (p.Phe223Val) c.709T>G (p.Phe237Val) c.*351T>G (n.*351T>G) c.*1573T>G (n.*1573T>G) c.651T>G n.545T>G c.700T>G (p.Phe234Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127666211T= | CA1879911612 | STXBP1 | c.667T= (p.Phe223=) c.709T= (p.Phe237=) c.*351T= (n.*351T=) c.*1573T= (n.*1573T=) c.651T= n.545T= c.700T= (p.Phe234=) | |
| 9 | g.127666212T>A | CA374933909 | STXBP1 | c.668T>A (p.Phe223Tyr) c.710T>A (p.Phe237Tyr) c.*352T>A (n.*352T>A) c.*1574T>A (n.*1574T>A) c.652T>A n.546T>A c.701T>A (p.Phe234Tyr) | |
| 9 | g.127666212T>C | CA374933912 | STXBP1 | c.668T>C (p.Phe223Ser) c.710T>C (p.Phe237Ser) c.*352T>C (n.*352T>C) c.*1574T>C (n.*1574T>C) c.652T>C n.546T>C c.701T>C (p.Phe234Ser) | |
| 9 | g.127666212T>G | CA374933915 | STXBP1 | c.668T>G (p.Phe223Cys) c.710T>G (p.Phe237Cys) c.*352T>G (n.*352T>G) c.*1574T>G (n.*1574T>G) c.652T>G n.546T>G c.701T>G (p.Phe234Cys) | |
| 9 | g.127666213T>A | CA374933916 | STXBP1 | c.669T>A (p.Phe223Leu) c.711T>A (p.Phe237Leu) c.*353T>A (n.*353T>A) c.*1575T>A (n.*1575T>A) c.653T>A n.547T>A c.702T>A (p.Phe234Leu) | |
| 9 | g.127666213T>C | CA467225651 | STXBP1 | c.669T>C (p.Phe223=) c.711T>C (p.Phe237=) c.*353T>C (n.*353T>C) c.*1575T>C (n.*1575T>C) c.653T>C n.547T>C c.702T>C (p.Phe234=) | |
| 9 | g.127666213T>G | CA374933917 | STXBP1 | c.669T>G (p.Phe223Leu) c.711T>G (p.Phe237Leu) c.*353T>G (n.*353T>G) c.*1575T>G (n.*1575T>G) c.653T>G n.547T>G c.702T>G (p.Phe234Leu) | |
| 9 | g.127666214G>A | CA374933920 | STXBP1 | c.670G>A (p.Asp224Asn) c.712G>A (p.Asp238Asn) c.*354G>A (n.*354G>A) c.*1576G>A (n.*1576G>A) c.654G>A n.548G>A c.703G>A (p.Asp235Asn) | |
| 9 | g.127666214G>C | CA374933922 | STXBP1 | c.670G>C (p.Asp224His) c.712G>C (p.Asp238His) c.*354G>C (n.*354G>C) c.*1576G>C (n.*1576G>C) c.654G>C n.548G>C c.703G>C (p.Asp235His) | COSMIC COSMIC |
| 9 | g.127666214G>T | CA374933925 | STXBP1 | c.670G>T (p.Asp224Tyr) c.712G>T (p.Asp238Tyr) c.*354G>T (n.*354G>T) c.*1576G>T (n.*1576G>T) c.654G>T n.548G>T c.703G>T (p.Asp235Tyr) | COSMIC COSMIC |
| 9 | g.127666215A>C | CA374933929 | STXBP1 | c.671A>C (p.Asp224Ala) c.713A>C (p.Asp238Ala) c.*355A>C (n.*355A>C) c.*1577A>C (n.*1577A>C) c.655A>C n.549A>C c.704A>C (p.Asp235Ala) | |
| 9 | g.127666215A>G | CA374933934 | STXBP1 | c.671A>G (p.Asp224Gly) c.713A>G (p.Asp238Gly) c.*355A>G (n.*355A>G) c.*1577A>G (n.*1577A>G) c.655A>G n.549A>G c.704A>G (p.Asp235Gly) | |
| 9 | g.127666215A>T | CA374933931 | STXBP1 | c.671A>T (p.Asp224Val) c.713A>T (p.Asp238Val) c.*355A>T (n.*355A>T) c.*1577A>T (n.*1577A>T) c.655A>T n.549A>T c.704A>T (p.Asp235Val) | |
| 9 | g.127666216C>A | CA173644 | STXBP1 | c.672C>A (p.Asp224Glu) c.714C>A (p.Asp238Glu) c.*356C>A (n.*356C>A) c.*1578C>A (n.*1578C>A) c.656C>A n.550C>A c.705C>A (p.Asp235Glu) | ClinVar dbSNP |
| 9 | g.127666216C= | CA1879911617 | STXBP1 | c.672C= (p.Asp224=) c.714C= (p.Asp238=) c.*356C= (n.*356C=) c.*1578C= (n.*1578C=) c.656C= n.550C= c.705C= (p.Asp235=) | |
| 9 | g.127666216C>G | CA374933939 | STXBP1 | c.672C>G (p.Asp224Glu) c.714C>G (p.Asp238Glu) c.*356C>G (n.*356C>G) c.*1578C>G (n.*1578C>G) c.656C>G n.550C>G c.705C>G (p.Asp235Glu) | |
| 9 | g.127666216C>T | CA467225671 | STXBP1 | c.672C>T (p.Asp224=) c.714C>T (p.Asp238=) c.*356C>T (n.*356C>T) c.*1578C>T (n.*1578C>T) c.656C>T n.550C>T c.705C>T (p.Asp235=) | gnomAD v4 |
| 9 | g.127666219del | CA658773357 | STXBP1 | c.675del (p.Ser226AlafsTer8) c.717del (p.Ser240AlafsTer8) c.*359del (n.*359del) c.*1581del (n.*1581del) c.659del n.553del c.708del (p.Ser237AlafsTer8) | |
| 9 | g.127666217C>A | CA374933941 | STXBP1 | c.673C>A (p.Pro225Thr) c.715C>A (p.Pro239Thr) c.*357C>A (n.*357C>A) c.*1579C>A (n.*1579C>A) c.657C>A n.551C>A c.706C>A (p.Pro236Thr) | |
| 9 | g.127666217C>G | CA374933943 | STXBP1 | c.673C>G (p.Pro225Ala) c.715C>G (p.Pro239Ala) c.*357C>G (n.*357C>G) c.*1579C>G (n.*1579C>G) c.657C>G n.551C>G c.706C>G (p.Pro236Ala) | |
| 9 | g.127666217C>T | CA374933944 | STXBP1 | c.673C>T (p.Pro225Ser) c.715C>T (p.Pro239Ser) c.*357C>T (n.*357C>T) c.*1579C>T (n.*1579C>T) c.657C>T n.551C>T c.706C>T (p.Pro236Ser) | |
| 9 | g.127666218C>A | CA374933946 | STXBP1 | c.674C>A (p.Pro225His) c.716C>A (p.Pro239His) c.*358C>A (n.*358C>A) c.*1580C>A (n.*1580C>A) c.658C>A n.552C>A c.707C>A (p.Pro236His) | |
| 9 | g.127666218C>G | CA374933948 | STXBP1 | c.674C>G (p.Pro225Arg) c.716C>G (p.Pro239Arg) c.*358C>G (n.*358C>G) c.*1580C>G (n.*1580C>G) c.658C>G n.552C>G c.707C>G (p.Pro236Arg) | |
| 9 | g.127666218C>T | CA374933950 | STXBP1 | c.674C>T (p.Pro225Leu) c.716C>T (p.Pro239Leu) c.*358C>T (n.*358C>T) c.*1580C>T (n.*1580C>T) c.658C>T n.552C>T c.707C>T (p.Pro236Leu) | |
| 9 | g.127666219C>A | CA467225681 | STXBP1 | c.675C>A (p.Pro225=) c.717C>A (p.Pro239=) c.*359C>A (n.*359C>A) c.*1581C>A (n.*1581C>A) c.659C>A n.553C>A c.708C>A (p.Pro236=) | |
| 9 | g.127666219C= | CA1879911623 | STXBP1 | c.675C= (p.Pro225=) c.717C= (p.Pro239=) c.*359C= (n.*359C=) c.*1581C= (n.*1581C=) c.659C= n.553C= c.708C= (p.Pro236=) | |
| 9 | g.127666219C>G | CA467225683 | STXBP1 | c.675C>G (p.Pro225=) c.717C>G (p.Pro239=) c.*359C>G (n.*359C>G) c.*1581C>G (n.*1581C>G) c.659C>G n.553C>G c.708C>G (p.Pro236=) | |
| 9 | g.127666219C>T | CA5248366 | STXBP1 | c.675C>T (p.Pro225=) c.717C>T (p.Pro239=) c.*359C>T (n.*359C>T) c.*1581C>T (n.*1581C>T) c.659C>T n.553C>T c.708C>T (p.Pro236=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127666220A>C | CA374933957 | STXBP1 | c.676A>C (p.Ser226Arg) c.718A>C (p.Ser240Arg) c.*360A>C (n.*360A>C) c.*1582A>C (n.*1582A>C) c.660A>C n.554A>C c.709A>C (p.Ser237Arg) | |
| 9 | g.127666220A>G | CA374933955 | STXBP1 | c.676A>G (p.Ser226Gly) c.718A>G (p.Ser240Gly) c.*360A>G (n.*360A>G) c.*1582A>G (n.*1582A>G) c.660A>G n.554A>G c.709A>G (p.Ser237Gly) | |
| 9 | g.127666220A>T | CA374933953 | STXBP1 | c.676A>T (p.Ser226Cys) c.718A>T (p.Ser240Cys) c.*360A>T (n.*360A>T) c.*1582A>T (n.*1582A>T) c.660A>T n.554A>T c.709A>T (p.Ser237Cys) | |
| 9 | g.127666221G>A | CA374933960 | STXBP1 | c.677G>A (p.Ser226Asn) c.719G>A (p.Ser240Asn) c.*361G>A (n.*361G>A) c.*1583G>A (n.*1583G>A) c.661G>A n.555G>A c.710G>A (p.Ser237Asn) | |
| 9 | g.127666221G>C | CA200263446 | STXBP1 | c.677G>C (p.Ser226Thr) c.719G>C (p.Ser240Thr) c.*361G>C (n.*361G>C) c.*1583G>C (n.*1583G>C) c.661G>C n.555G>C c.710G>C (p.Ser237Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127666221G= | CA1879911632 | STXBP1 | c.677G= (p.Ser226=) c.719G= (p.Ser240=) c.*361G= (n.*361G=) c.*1583G= (n.*1583G=) c.661G= n.555G= c.710G= (p.Ser237=) | |
| 9 | g.127666221G>T | CA374933963 | STXBP1 | c.677G>T (p.Ser226Ile) c.719G>T (p.Ser240Ile) c.*361G>T (n.*361G>T) c.*1583G>T (n.*1583G>T) c.661G>T n.555G>T c.710G>T (p.Ser237Ile) | |
| 9 | g.127666222C>A | CA374933966 | STXBP1 | c.678C>A (p.Ser226Arg) c.720C>A (p.Ser240Arg) c.*362C>A (n.*362C>A) c.*1584C>A (n.*1584C>A) c.662C>A n.556C>A c.711C>A (p.Ser237Arg) | gnomAD v4 |
| 9 | g.127666222C= | CA1879911634 | STXBP1 | c.678C= (p.Ser226=) c.720C= (p.Ser240=) c.*362C= (n.*362C=) c.*1584C= (n.*1584C=) c.662C= n.556C= c.711C= (p.Ser237=) | |
| 9 | g.127666222C>G | CA374933968 | STXBP1 | c.678C>G (p.Ser226Arg) c.720C>G (p.Ser240Arg) c.*362C>G (n.*362C>G) c.*1584C>G (n.*1584C>G) c.662C>G n.556C>G c.711C>G (p.Ser237Arg) | |
| 9 | g.127666222C>T | CA467225703 | STXBP1 | c.678C>T (p.Ser226=) c.720C>T (p.Ser240=) c.*362C>T (n.*362C>T) c.*1584C>T (n.*1584C>T) c.662C>T n.556C>T c.711C>T (p.Ser237=) | dbSNP |
| 9 | g.127666223T>A | CA374933971 | STXBP1 | c.679T>A (p.Ser227Thr) c.721T>A (p.Ser241Thr) c.*363T>A (n.*363T>A) c.*1585T>A (n.*1585T>A) c.663T>A n.557T>A c.712T>A (p.Ser238Thr) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127666223T>C | CA374933973 | STXBP1 | c.679T>C (p.Ser227Pro) c.721T>C (p.Ser241Pro) c.*363T>C (n.*363T>C) c.*1585T>C (n.*1585T>C) c.663T>C n.557T>C c.712T>C (p.Ser238Pro) | |
| 9 | g.127666223T>G | CA374933975 | STXBP1 | c.679T>G (p.Ser227Ala) c.721T>G (p.Ser241Ala) c.*363T>G (n.*363T>G) c.*1585T>G (n.*1585T>G) c.663T>G n.557T>G c.712T>G (p.Ser238Ala) | |
| 9 | g.127666224C>A | CA374933977 | STXBP1 | c.680C>A (p.Ser227Tyr) c.722C>A (p.Ser241Tyr) c.*364C>A (n.*364C>A) c.*1586C>A (n.*1586C>A) c.664C>A n.558C>A c.713C>A (p.Ser238Tyr) | ClinVar dbSNP |
| 9 | g.127666224C>G | CA374933979 | STXBP1 | c.680C>G (p.Ser227Cys) c.722C>G (p.Ser241Cys) c.*364C>G (n.*364C>G) c.*1586C>G (n.*1586C>G) c.664C>G n.558C>G c.713C>G (p.Ser238Cys) | |
| 9 | g.127666224C>T | CA374933981 | STXBP1 | c.680C>T (p.Ser227Phe) c.722C>T (p.Ser241Phe) c.*364C>T (n.*364C>T) c.*1586C>T (n.*1586C>T) c.664C>T n.558C>T c.713C>T (p.Ser238Phe) | |
| 9 | g.127666225C>A | CA467225726 | STXBP1 | c.681C>A (p.Ser227=) c.723C>A (p.Ser241=) c.*365C>A (n.*365C>A) c.*1587C>A (n.*1587C>A) c.665C>A n.559C>A c.714C>A (p.Ser238=) | |
| 9 | g.127666225C>G | CA467225729 | STXBP1 | c.681C>G (p.Ser227=) c.723C>G (p.Ser241=) c.*365C>G (n.*365C>G) c.*1587C>G (n.*1587C>G) c.665C>G n.559C>G c.714C>G (p.Ser238=) | |
| 9 | g.127666225C>T | CA467225731 | STXBP1 | c.681C>T (p.Ser227=) c.723C>T (p.Ser241=) c.*365C>T (n.*365C>T) c.*1587C>T (n.*1587C>T) c.665C>T n.559C>T c.714C>T (p.Ser238=) | |
| 9 | g.127666226C>A | CA374933987 | STXBP1 | c.682C>A (p.Pro228Thr) c.724C>A (p.Pro242Thr) c.*366C>A (n.*366C>A) c.*1588C>A (n.*1588C>A) c.666C>A n.560C>A c.715C>A (p.Pro239Thr) | |
| 9 | g.127666226C>G | CA374933985 | STXBP1 | c.682C>G (p.Pro228Ala) c.724C>G (p.Pro242Ala) c.*366C>G (n.*366C>G) c.*1588C>G (n.*1588C>G) c.666C>G n.560C>G c.715C>G (p.Pro239Ala) | |
| 9 | g.127666226C>T | CA374933984 | STXBP1 | c.682C>T (p.Pro228Ser) c.724C>T (p.Pro242Ser) c.*366C>T (n.*366C>T) c.*1588C>T (n.*1588C>T) c.666C>T n.560C>T c.715C>T (p.Pro239Ser) | |
| 9 | g.127666226_127666227delinsA | CA2739291263 | STXBP1 | c.682_683delinsA (p.Pro228MetfsTer6) c.724_725delinsA (p.Pro242MetfsTer6) c.*366_*367delinsA (n.*366_*367delinsA) c.*1588_*1589delinsA (n.*1588_*1589delinsA) c.666_667delinsA n.560_561delinsA c.715_716delinsA (p.Pro239MetfsTer6) | |
| 9 | g.127666227C>A | CA374933990 | STXBP1 | c.683C>A (p.Pro228His) c.725C>A (p.Pro242His) c.*367C>A (n.*367C>A) c.*1589C>A (n.*1589C>A) c.667C>A n.561C>A c.716C>A (p.Pro239His) | |
| 9 | g.127666227C>G | CA374933991 | STXBP1 | c.683C>G (p.Pro228Arg) c.725C>G (p.Pro242Arg) c.*367C>G (n.*367C>G) c.*1589C>G (n.*1589C>G) c.667C>G n.561C>G c.716C>G (p.Pro239Arg) | |
| 9 | g.127666227C>T | CA374933993 | STXBP1 | c.683C>T (p.Pro228Leu) c.725C>T (p.Pro242Leu) c.*367C>T (n.*367C>T) c.*1589C>T (n.*1589C>T) c.667C>T n.561C>T c.716C>T (p.Pro239Leu) | |
| 9 | g.127666227_127666228insGGG | CA2573144059 | STXBP1 | c.683_684insGGG (p.Pro228_Val229insGly) c.725_726insGGG (p.Pro242_Val243insGly) c.*367_*368insGGG (n.*367_*368insGGG) c.*1589_*1590insGGG (n.*1589_*1590insGGG) c.667_668insGGG n.561_562insGGG c.716_717insGGG (p.Pro239_Val240insGly) | ClinVar dbSNP |
| 9 | g.127666228T>A | CA467225767 | STXBP1 | c.684T>A (p.Pro228=) c.726T>A (p.Pro242=) c.*368T>A (n.*368T>A) c.*1590T>A (n.*1590T>A) c.668T>A n.562T>A c.717T>A (p.Pro239=) | |
| 9 | g.127666228T>C | CA467225769 | STXBP1 | c.684T>C (p.Pro228=) c.726T>C (p.Pro242=) c.*368T>C (n.*368T>C) c.*1590T>C (n.*1590T>C) c.668T>C n.562T>C c.717T>C (p.Pro239=) | |
| 9 | g.127666228T>G | CA467225774 | STXBP1 | c.684T>G (p.Pro228=) c.726T>G (p.Pro242=) c.*368T>G (n.*368T>G) c.*1590T>G (n.*1590T>G) c.668T>G n.562T>G c.717T>G (p.Pro239=) | |
| 9 | g.127666229G>A | CA374933996 | STXBP1 | c.685G>A (p.Val229Met) c.727G>A (p.Val243Met) c.*369G>A (n.*369G>A) c.*1591G>A (n.*1591G>A) c.669G>A n.563G>A c.718G>A (p.Val240Met) | gnomAD v4 |
| 9 | g.127666229G>C | CA374933998 | STXBP1 | c.685G>C (p.Val229Leu) c.727G>C (p.Val243Leu) c.*369G>C (n.*369G>C) c.*1591G>C (n.*1591G>C) c.669G>C n.563G>C c.718G>C (p.Val240Leu) | |
| 9 | g.127666229G>T | CA374934000 | STXBP1 | c.685G>T (p.Val229Leu) c.727G>T (p.Val243Leu) c.*369G>T (n.*369G>T) c.*1591G>T (n.*1591G>T) c.669G>T n.563G>T c.718G>T (p.Val240Leu) | |
| 9 | g.127666230T>A | CA374934002 | STXBP1 | c.686T>A (p.Val229Glu) c.728T>A (p.Val243Glu) c.*370T>A (n.*370T>A) c.*1592T>A (n.*1592T>A) c.670T>A n.564T>A c.719T>A (p.Val240Glu) | |
| 9 | g.127666230T>C | CA374934003 | STXBP1 | c.686T>C (p.Val229Ala) c.728T>C (p.Val243Ala) c.*370T>C (n.*370T>C) c.*1592T>C (n.*1592T>C) c.670T>C n.564T>C c.719T>C (p.Val240Ala) | |
| 9 | g.127666230T>G | CA374934004 | STXBP1 | c.686T>G (p.Val229Gly) c.728T>G (p.Val243Gly) c.*370T>G (n.*370T>G) c.*1592T>G (n.*1592T>G) c.670T>G n.564T>G c.719T>G (p.Val240Gly) | |
| 9 | g.127666231G>A | CA467225805 | STXBP1 | c.687G>A (p.Val229=) c.729G>A (p.Val243=) c.*371G>A (n.*371G>A) c.*1593G>A (n.*1593G>A) c.671G>A n.565G>A c.720G>A (p.Val240=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127666231G>C | CA467225808 | STXBP1 | c.687G>C (p.Val229=) c.729G>C (p.Val243=) c.*371G>C (n.*371G>C) c.*1593G>C (n.*1593G>C) c.671G>C n.565G>C c.720G>C (p.Val240=) | gnomAD v4 |
| 9 | g.127666231G= | CA1879911638 | STXBP1 | c.687G= (p.Val229=) c.729G= (p.Val243=) c.*371G= (n.*371G=) c.*1593G= (n.*1593G=) c.671G= n.565G= c.720G= (p.Val240=) | |
| 9 | g.127666231G>T | CA467225813 | STXBP1 | c.687G>T (p.Val229=) c.729G>T (p.Val243=) c.*371G>T (n.*371G>T) c.*1593G>T (n.*1593G>T) c.671G>T n.565G>T c.720G>T (p.Val240=) | |
| 9 | g.127666232C>A | CA374934005 | STXBP1 | c.688C>A (p.Leu230Ile) c.730C>A (p.Leu244Ile) c.*372C>A (n.*372C>A) c.*1594C>A (n.*1594C>A) c.672C>A n.566C>A c.721C>A (p.Leu241Ile) | |
| 9 | g.127666232C= | CA1879911646 | STXBP1 | c.688C= (p.Leu230=) c.730C= (p.Leu244=) c.*372C= (n.*372C=) c.*1594C= (n.*1594C=) c.672C= n.566C= c.721C= (p.Leu241=) | |
| 9 | g.127666232C>G | CA200263447 | STXBP1 | c.688C>G (p.Leu230Val) c.730C>G (p.Leu244Val) c.*372C>G (n.*372C>G) c.*1594C>G (n.*1594C>G) c.672C>G n.566C>G c.721C>G (p.Leu241Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127666232C>T | CA374934006 | STXBP1 | c.688C>T (p.Leu230Phe) c.730C>T (p.Leu244Phe) c.*372C>T (n.*372C>T) c.*1594C>T (n.*1594C>T) c.672C>T n.566C>T c.721C>T (p.Leu241Phe) | |
| 9 | g.127666233T>A | CA374934010 | STXBP1 | c.689T>A (p.Leu230His) c.731T>A (p.Leu244His) c.*373T>A (n.*373T>A) c.*1595T>A (n.*1595T>A) c.673T>A n.567T>A c.722T>A (p.Leu241His) | |
| 9 | g.127666233T>C | CA374934009 | STXBP1 | c.689T>C (p.Leu230Pro) c.731T>C (p.Leu244Pro) c.*373T>C (n.*373T>C) c.*1595T>C (n.*1595T>C) c.673T>C n.567T>C c.722T>C (p.Leu241Pro) | |
| 9 | g.127666233T>G | CA374934008 | STXBP1 | c.689T>G (p.Leu230Arg) c.731T>G (p.Leu244Arg) c.*373T>G (n.*373T>G) c.*1595T>G (n.*1595T>G) c.673T>G n.567T>G c.722T>G (p.Leu241Arg) | |
| 9 | g.127666234C>A | CA467225821 | STXBP1 | c.690C>A (p.Leu230=) c.732C>A (p.Leu244=) c.*374C>A (n.*374C>A) c.*1596C>A (n.*1596C>A) c.674C>A n.568C>A c.723C>A (p.Leu241=) | COSMIC COSMIC |
| 9 | g.127666234C= | CA1879911651 | STXBP1 | c.690C= (p.Leu230=) c.732C= (p.Leu244=) c.*374C= (n.*374C=) c.*1596C= (n.*1596C=) c.674C= n.568C= c.723C= (p.Leu241=) | |
| 9 | g.127666234C>G | CA467225823 | STXBP1 | c.690C>G (p.Leu230=) c.732C>G (p.Leu244=) c.*374C>G (n.*374C>G) c.*1596C>G (n.*1596C>G) c.674C>G n.568C>G c.723C>G (p.Leu241=) | |
| 9 | g.127666234C>T | CA467225829 | STXBP1 | c.690C>T (p.Leu230=) c.732C>T (p.Leu244=) c.*374C>T (n.*374C>T) c.*1596C>T (n.*1596C>T) c.674C>T n.568C>T c.723C>T (p.Leu241=) | dbSNP |
| 9 | g.127666235C>A | CA374934011 | STXBP1 | c.691C>A (p.His231Asn) c.733C>A (p.His245Asn) c.*375C>A (n.*375C>A) c.*1597C>A (n.*1597C>A) c.675C>A n.569C>A c.724C>A (p.His242Asn) | ClinVar dbSNP |
| 9 | g.127666235C= | CA1879911656 | STXBP1 | c.691C= (p.His231=) c.733C= (p.His245=) c.*375C= (n.*375C=) c.*1597C= (n.*1597C=) c.675C= n.569C= c.724C= (p.His242=) | |
| 9 | g.127666235C>G | CA374934012 | STXBP1 | c.691C>G (p.His231Asp) c.733C>G (p.His245Asp) c.*375C>G (n.*375C>G) c.*1597C>G (n.*1597C>G) c.675C>G n.569C>G c.724C>G (p.His242Asp) | ClinVar dbSNP |
| 9 | g.127666235C>T | CA374934014 | STXBP1 | c.691C>T (p.His231Tyr) c.733C>T (p.His245Tyr) c.*375C>T (n.*375C>T) c.*1597C>T (n.*1597C>T) c.675C>T n.569C>T c.724C>T (p.His242Tyr) | |
| 9 | g.127666236A= | CA1879911662 | STXBP1 | c.692A= (p.His231=) c.734A= (p.His245=) c.*376A= (n.*376A=) c.*1598A= (n.*1598A=) c.676A= n.570A= c.725A= (p.His242=) | |
| 9 | g.127666236A>C | CA374934016 | STXBP1 | c.692A>C (p.His231Pro) c.734A>C (p.His245Pro) c.*376A>C (n.*376A>C) c.*1598A>C (n.*1598A>C) c.676A>C n.570A>C c.725A>C (p.His242Pro) | |
| 9 | g.127666236A>G | CA173637 | STXBP1 | c.692A>G (p.His231Arg) c.734A>G (p.His245Arg) c.*376A>G (n.*376A>G) c.*1598A>G (n.*1598A>G) c.676A>G n.570A>G c.725A>G (p.His242Arg) | ClinVar dbSNP |
| 9 | g.127666236A>T | CA374934019 | STXBP1 | c.692A>T (p.His231Leu) c.734A>T (p.His245Leu) c.*376A>T (n.*376A>T) c.*1598A>T (n.*1598A>T) c.676A>T n.570A>T c.725A>T (p.His242Leu) | |
| 9 | g.127666237T>A | CA374934021 | STXBP1 | c.693T>A (p.His231Gln) c.735T>A (p.His245Gln) c.*377T>A (n.*377T>A) c.*1599T>A (n.*1599T>A) c.677T>A n.571T>A c.726T>A (p.His242Gln) | ClinVar |
| 9 | g.127666237T>C | CA467225861 | STXBP1 | c.693T>C (p.His231=) c.735T>C (p.His245=) c.*377T>C (n.*377T>C) c.*1599T>C (n.*1599T>C) c.677T>C n.571T>C c.726T>C (p.His242=) | |
| 9 | g.127666237T>G | CA374934023 | STXBP1 | c.693T>G (p.His231Gln) c.735T>G (p.His245Gln) c.*377T>G (n.*377T>G) c.*1599T>G (n.*1599T>G) c.677T>G n.571T>G c.726T>G (p.His242Gln) | |
| 9 | g.127666238G>A | CA374934026 | STXBP1 | c.694G>A (p.Glu232Lys) c.736G>A (p.Glu246Lys) c.*378G>A (n.*378G>A) c.*1600G>A (n.*1600G>A) c.678G>A n.572G>A c.727G>A (p.Glu243Lys) | |
| 9 | g.127666238G>C | CA374934027 | STXBP1 | c.694G>C (p.Glu232Gln) c.736G>C (p.Glu246Gln) c.*378G>C (n.*378G>C) c.*1600G>C (n.*1600G>C) c.678G>C n.572G>C c.727G>C (p.Glu243Gln) | |
| 9 | g.127666238G>T | CA374934029 | STXBP1 | c.694G>T (p.Glu232Ter) c.736G>T (p.Glu246Ter) c.*378G>T (n.*378G>T) c.*1600G>T (n.*1600G>T) c.678G>T n.572G>T c.727G>T (p.Glu243Ter) | |
| 9 | g.127666239A>C | CA374934032 | STXBP1 | c.695A>C (p.Glu232Ala) c.737A>C (p.Glu246Ala) c.*379A>C (n.*379A>C) c.*1601A>C (n.*1601A>C) c.679A>C n.573A>C c.728A>C (p.Glu243Ala) | COSMIC COSMIC |
| 9 | g.127666239A>G | CA374934033 | STXBP1 | c.695A>G (p.Glu232Gly) c.737A>G (p.Glu246Gly) c.*379A>G (n.*379A>G) c.*1601A>G (n.*1601A>G) c.679A>G n.573A>G c.728A>G (p.Glu243Gly) | |
| 9 | g.127666239A>T | CA374934035 | STXBP1 | c.695A>T (p.Glu232Val) c.737A>T (p.Glu246Val) c.*379A>T (n.*379A>T) c.*1601A>T (n.*1601A>T) c.679A>T n.573A>T c.728A>T (p.Glu243Val) | |
| 9 | g.127666240A>C | CA374934039 | STXBP1 | c.696A>C (p.Glu232Asp) c.738A>C (p.Glu246Asp) c.*380A>C (n.*380A>C) c.*1602A>C (n.*1602A>C) c.680A>C n.574A>C c.729A>C (p.Glu243Asp) | |
| 9 | g.127666240A>G | CA467225885 | STXBP1 | c.696A>G (p.Glu232=) c.738A>G (p.Glu246=) c.*380A>G (n.*380A>G) c.*1602A>G (n.*1602A>G) c.680A>G n.574A>G c.729A>G (p.Glu243=) | |
| 9 | g.127666240A>T | CA374934038 | STXBP1 | c.696A>T (p.Glu232Asp) c.738A>T (p.Glu246Asp) c.*380A>T (n.*380A>T) c.*1602A>T (n.*1602A>T) c.680A>T n.574A>T c.729A>T (p.Glu243Asp) | |
| 9 | g.127666241T>A | CA374934042 | STXBP1 | c.697T>A (p.Leu233Met) c.739T>A (p.Leu247Met) c.*381T>A (n.*381T>A) c.*1603T>A (n.*1603T>A) c.681T>A n.575T>A c.730T>A (p.Leu244Met) | |
| 9 | g.127666241T>C | CA467225889 | STXBP1 | c.697T>C (p.Leu233=) c.739T>C (p.Leu247=) c.*381T>C (n.*381T>C) c.*1603T>C (n.*1603T>C) c.681T>C n.575T>C c.730T>C (p.Leu244=) | |
| 9 | g.127666241T>G | CA374934043 | STXBP1 | c.697T>G (p.Leu233Val) c.739T>G (p.Leu247Val) c.*381T>G (n.*381T>G) c.*1603T>G (n.*1603T>G) c.681T>G n.575T>G c.730T>G (p.Leu244Val) | |
| 9 | g.127666242T>A | CA374934046 | STXBP1 | c.698T>A (p.Leu233Ter) c.740T>A (p.Leu247Ter) c.*382T>A (n.*382T>A) c.*1604T>A (n.*1604T>A) c.682T>A n.576T>A c.731T>A (p.Leu244Ter) | |
| 9 | g.127666242T>C | CA374934047 | STXBP1 | c.698T>C (p.Leu233Ser) c.740T>C (p.Leu247Ser) c.*382T>C (n.*382T>C) c.*1604T>C (n.*1604T>C) c.682T>C n.576T>C c.731T>C (p.Leu244Ser) | |
| 9 | g.127666242T>G | CA374934049 | STXBP1 | c.698T>G (p.Leu233Trp) c.740T>G (p.Leu247Trp) c.*382T>G (n.*382T>G) c.*1604T>G (n.*1604T>G) c.682T>G n.576T>G c.731T>G (p.Leu244Trp) | |
| 9 | g.127666243G>A | CA467225919 | STXBP1 | c.699G>A (p.Leu233=) c.741G>A (p.Leu247=) c.*383G>A (n.*383G>A) c.*1605G>A (n.*1605G>A) c.683G>A n.577G>A c.732G>A (p.Leu244=) | |
| 9 | g.127666243G>C | CA374934052 | STXBP1 | c.699G>C (p.Leu233Phe) c.741G>C (p.Leu247Phe) c.*383G>C (n.*383G>C) c.*1605G>C (n.*1605G>C) c.683G>C n.577G>C c.732G>C (p.Leu244Phe) | |
| 9 | g.127666243G>T | CA374934053 | STXBP1 | c.699G>T (p.Leu233Phe) c.741G>T (p.Leu247Phe) c.*383G>T (n.*383G>T) c.*1605G>T (n.*1605G>T) c.683G>T n.577G>T c.732G>T (p.Leu244Phe) | |
| 9 | g.127666244A>C | CA374934055 | STXBP1 | c.700A>C (p.Thr234Pro) c.742A>C (p.Thr248Pro) c.*384A>C (n.*384A>C) c.*1606A>C (n.*1606A>C) c.684A>C n.578A>C c.733A>C (p.Thr245Pro) | |
| 9 | g.127666244A>G | CA374934057 | STXBP1 | c.700A>G (p.Thr234Ala) c.742A>G (p.Thr248Ala) c.*384A>G (n.*384A>G) c.*1606A>G (n.*1606A>G) c.684A>G n.578A>G c.733A>G (p.Thr245Ala) | |
| 9 | g.127666244A>T | CA374934058 | STXBP1 | c.700A>T (p.Thr234Ser) c.742A>T (p.Thr248Ser) c.*384A>T (n.*384A>T) c.*1606A>T (n.*1606A>T) c.684A>T n.578A>T c.733A>T (p.Thr245Ser) | |
| 9 | g.127666245C>A | CA374934062 | STXBP1 | c.701C>A (p.Thr234Asn) c.743C>A (p.Thr248Asn) c.*385C>A (n.*385C>A) c.*1607C>A (n.*1607C>A) c.685C>A n.579C>A c.734C>A (p.Thr245Asn) | |
| 9 | g.127666245C= | CA1879911668 | STXBP1 | c.701C= (p.Thr234=) c.743C= (p.Thr248=) c.*385C= (n.*385C=) c.*1607C= (n.*1607C=) c.685C= n.579C= c.734C= (p.Thr245=) | |
| 9 | g.127666245C>G | CA374934063 | STXBP1 | c.701C>G (p.Thr234Ser) c.743C>G (p.Thr248Ser) c.*385C>G (n.*385C>G) c.*1607C>G (n.*1607C>G) c.685C>G n.579C>G c.734C>G (p.Thr245Ser) | |
| 9 | g.127666245C>T | CA16606218 | STXBP1 | c.701C>T (p.Thr234Ile) c.743C>T (p.Thr248Ile) c.*385C>T (n.*385C>T) c.*1607C>T (n.*1607C>T) c.685C>T n.579C>T c.734C>T (p.Thr245Ile) | ClinVar dbSNP |
| 9 | g.127666246T>A | CA467225952 | STXBP1 | c.702T>A (p.Thr234=) c.744T>A (p.Thr248=) c.*386T>A (n.*386T>A) c.*1608T>A (n.*1608T>A) c.686T>A n.580T>A c.735T>A (p.Thr245=) | |
| 9 | g.127666246T>C | CA467225962 | STXBP1 | c.702T>C (p.Thr234=) c.744T>C (p.Thr248=) c.*386T>C (n.*386T>C) c.*1608T>C (n.*1608T>C) c.686T>C n.580T>C c.735T>C (p.Thr245=) | |
| 9 | g.127666246T>G | CA467225958 | STXBP1 | c.702T>G (p.Thr234=) c.744T>G (p.Thr248=) c.*386T>G (n.*386T>G) c.*1608T>G (n.*1608T>G) c.686T>G n.580T>G c.735T>G (p.Thr245=) | |
| 9 | g.127666249dup | CA2695211357 | STXBP1 | c.705dup (p.Gln236SerfsTer6) c.747dup (p.Gln250SerfsTer6) c.*389dup (n.*389dup) c.*1611dup (n.*1611dup) c.689dup n.583dup c.738dup (p.Gln247SerfsTer6) | |
| 9 | g.127666248_127666249del | CA2695211358 | STXBP1 | c.704_705del (p.Phe235SerfsTer6) c.746_747del (p.Phe249SerfsTer6) c.*388_*389del (n.*388_*389del) c.*1610_*1611del (n.*1610_*1611del) c.688_689del n.582_583del c.737_738del (p.Phe246SerfsTer6) | |
| 9 | g.127666247T>A | CA374934066 | STXBP1 | c.703T>A (p.Phe235Ile) c.745T>A (p.Phe249Ile) c.*387T>A (n.*387T>A) c.*1609T>A (n.*1609T>A) c.687T>A n.581T>A c.736T>A (p.Phe246Ile) | |
| 9 | g.127666247T>C | CA374934069 | STXBP1 | c.703T>C (p.Phe235Leu) c.745T>C (p.Phe249Leu) c.*387T>C (n.*387T>C) c.*1609T>C (n.*1609T>C) c.687T>C n.581T>C c.736T>C (p.Phe246Leu) | |
| 9 | g.127666247T>G | CA374934068 | STXBP1 | c.703T>G (p.Phe235Val) c.745T>G (p.Phe249Val) c.*387T>G (n.*387T>G) c.*1609T>G (n.*1609T>G) c.687T>G n.581T>G c.736T>G (p.Phe246Val) | |
| 9 | g.127666248T>A | CA374934072 | STXBP1 | c.704T>A (p.Phe235Tyr) c.746T>A (p.Phe249Tyr) c.*388T>A (n.*388T>A) c.*1610T>A (n.*1610T>A) c.688T>A n.582T>A c.737T>A (p.Phe246Tyr) | |
| 9 | g.127666248T>C | CA374934074 | STXBP1 | c.704T>C (p.Phe235Ser) c.746T>C (p.Phe249Ser) c.*388T>C (n.*388T>C) c.*1610T>C (n.*1610T>C) c.688T>C n.582T>C c.737T>C (p.Phe246Ser) | ClinVar |
| 9 | g.127666248T>G | CA374934076 | STXBP1 | c.704T>G (p.Phe235Cys) c.746T>G (p.Phe249Cys) c.*388T>G (n.*388T>G) c.*1610T>G (n.*1610T>G) c.688T>G n.582T>G c.737T>G (p.Phe246Cys) | |
| 9 | g.127666249T>A | CA374934078 | STXBP1 | c.705T>A (p.Phe235Leu) c.747T>A (p.Phe249Leu) c.*389T>A (n.*389T>A) c.*1611T>A (n.*1611T>A) c.689T>A n.583T>A c.738T>A (p.Phe246Leu) | |
| 9 | g.127666249T>C | CA467225980 | STXBP1 | c.705T>C (p.Phe235=) c.747T>C (p.Phe249=) c.*389T>C (n.*389T>C) c.*1611T>C (n.*1611T>C) c.689T>C n.583T>C c.738T>C (p.Phe246=) | gnomAD v4 |
| 9 | g.127666249T>G | CA374934079 | STXBP1 | c.705T>G (p.Phe235Leu) c.747T>G (p.Phe249Leu) c.*389T>G (n.*389T>G) c.*1611T>G (n.*1611T>G) c.689T>G n.583T>G c.738T>G (p.Phe246Leu) | |
| 9 | g.127666250C>A | CA374934082 | STXBP1 | c.706C>A (p.Gln236Lys) c.748C>A (p.Gln250Lys) c.*390C>A (n.*390C>A) c.*1612C>A (n.*1612C>A) c.690C>A n.584C>A c.739C>A (p.Gln247Lys) | ClinVar |
| 9 | g.127666250C= | CA1879911680 | STXBP1 | c.706C= (p.Gln236=) c.748C= (p.Gln250=) c.*390C= (n.*390C=) c.*1612C= (n.*1612C=) c.690C= n.584C= c.739C= (p.Gln247=) | |
| 9 | g.127666250C>G | CA374934084 | STXBP1 | c.706C>G (p.Gln236Glu) c.748C>G (p.Gln250Glu) c.*390C>G (n.*390C>G) c.*1612C>G (n.*1612C>G) c.690C>G n.584C>G c.739C>G (p.Gln247Glu) | ClinVar |
| 9 | g.127666250C>T | CA16618740 | STXBP1 | c.706C>T (p.Gln236Ter) c.748C>T (p.Gln250Ter) c.*390C>T (n.*390C>T) c.*1612C>T (n.*1612C>T) c.690C>T n.584C>T c.739C>T (p.Gln247Ter) | ClinVar dbSNP |
| 9 | g.127666251A>C | CA374934087 | STXBP1 | c.707A>C (p.Gln236Pro) c.749A>C (p.Gln250Pro) c.*391A>C (n.*391A>C) c.*1613A>C (n.*1613A>C) c.691A>C n.585A>C c.740A>C (p.Gln247Pro) | |
| 9 | g.127666251A>G | CA374934089 | STXBP1 | c.707A>G (p.Gln236Arg) c.749A>G (p.Gln250Arg) c.*391A>G (n.*391A>G) c.*1613A>G (n.*1613A>G) c.691A>G n.585A>G c.740A>G (p.Gln247Arg) | ClinVar |
| 9 | g.127666251A>T | CA374934091 | STXBP1 | c.707A>T (p.Gln236Leu) c.749A>T (p.Gln250Leu) c.*391A>T (n.*391A>T) c.*1613A>T (n.*1613A>T) c.691A>T n.585A>T c.740A>T (p.Gln247Leu) | |
| 9 | g.127666252G>A | CA467226007 | STXBP1 | c.708G>A (p.Gln236=) c.750G>A (p.Gln250=) c.*392G>A (n.*392G>A) c.*1614G>A (n.*1614G>A) c.692G>A n.586G>A c.741G>A (p.Gln247=) | gnomAD v4 |
| 9 | g.127666252G>C | CA374934093 | STXBP1 | c.708G>C (p.Gln236His) c.750G>C (p.Gln250His) c.*392G>C (n.*392G>C) c.*1614G>C (n.*1614G>C) c.692G>C n.586G>C c.741G>C (p.Gln247His) | |
| 9 | g.127666252G>T | CA374934095 | STXBP1 | c.708G>T (p.Gln236His) c.750G>T (p.Gln250His) c.*392G>T (n.*392G>T) c.*1614G>T (n.*1614G>T) c.692G>T n.586G>T c.741G>T (p.Gln247His) | |
| 9 | g.127666253G>A | CA374934097 | STXBP1 | c.709G>A (p.Ala237Thr) c.751G>A (p.Ala251Thr) c.*393G>A (n.*393G>A) c.*1615G>A (n.*1615G>A) c.693G>A n.587G>A c.742G>A (p.Ala248Thr) | |
| 9 | g.127666253G>C | CA374934101 | STXBP1 | c.709G>C (p.Ala237Pro) c.751G>C (p.Ala251Pro) c.*393G>C (n.*393G>C) c.*1615G>C (n.*1615G>C) c.693G>C n.587G>C c.742G>C (p.Ala248Pro) | |
| 9 | g.127666253G>T | CA374934099 | STXBP1 | c.709G>T (p.Ala237Ser) c.751G>T (p.Ala251Ser) c.*393G>T (n.*393G>T) c.*1615G>T (n.*1615G>T) c.693G>T n.587G>T c.742G>T (p.Ala248Ser) | gnomAD v4 |
| 9 | g.127666254C>A | CA374934104 | STXBP1 | c.710C>A (p.Ala237Asp) c.752C>A (p.Ala251Asp) c.*394C>A (n.*394C>A) c.*1616C>A (n.*1616C>A) c.694C>A n.588C>A c.743C>A (p.Ala248Asp) | |
| 9 | g.127666254C>G | CA374934106 | STXBP1 | c.710C>G (p.Ala237Gly) c.752C>G (p.Ala251Gly) c.*394C>G (n.*394C>G) c.*1616C>G (n.*1616C>G) c.694C>G n.588C>G c.743C>G (p.Ala248Gly) | |
| 9 | g.127666254C>T | CA374934107 | STXBP1 | c.710C>T (p.Ala237Val) c.752C>T (p.Ala251Val) c.*394C>T (n.*394C>T) c.*1616C>T (n.*1616C>T) c.694C>T n.588C>T c.743C>T (p.Ala248Val) | |
| 9 | g.127666254_127666256delinsCTA | CA1879911684 | STXBP1 | c.710_712delinsCTA (p.Ala237=) c.752_754delinsCTA (p.Ala251=) c.*394_*396delinsCTA (n.*394_*396delinsCTA) c.*1616_*1618delinsCTA (n.*1616_*1618delinsCTA) c.694_696delinsCTA n.588_590delinsCTA c.743_745delinsCTA (p.Ala248=) | |
| 9 | g.127666255T>A | CA467226039 | STXBP1 | c.711T>A (p.Ala237=) c.753T>A (p.Ala251=) c.*395T>A (n.*395T>A) c.*1617T>A (n.*1617T>A) c.695T>A n.589T>A c.744T>A (p.Ala248=) | ClinVar dbSNP |
| 9 | g.127666255T>C | CA5248367 | STXBP1 | c.711T>C (p.Ala237=) c.753T>C (p.Ala251=) c.*395T>C (n.*395T>C) c.*1617T>C (n.*1617T>C) c.695T>C n.589T>C c.744T>C (p.Ala248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127666255T>G | CA467226043 | STXBP1 | c.711T>G (p.Ala237=) c.753T>G (p.Ala251=) c.*395T>G (n.*395T>G) c.*1617T>G (n.*1617T>G) c.695T>G n.589T>G c.744T>G (p.Ala248=) | |
| 9 | g.127666255T= | CA1879911694 | STXBP1 | c.711T= (p.Ala237=) c.753T= (p.Ala251=) c.*395T= (n.*395T=) c.*1617T= (n.*1617T=) c.695T= n.589T= c.744T= (p.Ala248=) | |
| 9 | g.127666256_127666257del | CA173640 | STXBP1 | c.712_713del (p.Met238GlufsTer3) c.754_755del (p.Met252GlufsTer3) c.*396_*397del (n.*396_*397del) c.*1618_*1619del (n.*1618_*1619del) c.696_697del n.590_591del c.745_746del (p.Met249GlufsTer3) | ClinVar dbSNP |