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.127658453_127660122del | CA916083067 | STXBP1 | c.204+2_283+14del c.246+2_325+14del c.269+2_348+14del c.*1110+2_*1189+14del c.188+2_267+14del c.135+2_214+14del | ClinVar |
| 9 | g.127659971C>T | CA2691772252 | STXBP1 | c.205-59C>T (n.205-59C>T) c.247-59C>T (n.247-59C>T) c.270-59C>T (n.270-59C>T) c.*1111-59C>T (n.*1111-59C>T) c.189-59C>T c.136-59C>T (n.136-59C>T) | gnomAD v4 |
| 9 | g.127659972A= | CA1879905731 | STXBP1 | c.205-58A= (n.205-58A=) c.247-58A= (n.247-58A=) c.270-58A= (n.270-58A=) c.*1111-58A= (n.*1111-58A=) c.189-58A= c.136-58A= (n.136-58A=) | |
| 9 | g.127659972A>G | CA2691772253 | STXBP1 | c.205-58A>G (n.205-58A>G) c.247-58A>G (n.247-58A>G) c.270-58A>G (n.270-58A>G) c.*1111-58A>G (n.*1111-58A>G) c.189-58A>G c.136-58A>G (n.136-58A>G) | gnomAD v4 |
| 9 | g.127659972A>T | CA860172853 | STXBP1 | c.205-58A>T (n.205-58A>T) c.247-58A>T (n.247-58A>T) c.270-58A>T (n.270-58A>T) c.*1111-58A>T (n.*1111-58A>T) c.189-58A>T c.136-58A>T (n.136-58A>T) | dbSNP |
| 9 | g.127659973G>T | CA2579458506 | STXBP1 | c.205-57G>T (n.205-57G>T) c.247-57G>T (n.247-57G>T) c.270-57G>T (n.270-57G>T) c.*1111-57G>T (n.*1111-57G>T) c.189-57G>T c.136-57G>T (n.136-57G>T) | |
| 9 | g.127659976C>A | CA1879905734 | STXBP1 | c.205-54C>A (n.205-54C>A) c.247-54C>A (n.247-54C>A) c.270-54C>A (n.270-54C>A) c.*1111-54C>A (n.*1111-54C>A) c.189-54C>A c.136-54C>A (n.136-54C>A) | dbSNP gnomAD v4 |
| 9 | g.127659976C= | CA1879905733 | STXBP1 | c.205-54C= (n.205-54C=) c.247-54C= (n.247-54C=) c.270-54C= (n.270-54C=) c.*1111-54C= (n.*1111-54C=) c.189-54C= c.136-54C= (n.136-54C=) | |
| 9 | g.127659978del | CA2691772254 | STXBP1 | c.205-52del (n.205-52del) c.247-52del (n.247-52del) c.270-52del (n.270-52del) c.*1111-52del (n.*1111-52del) c.189-52del c.136-52del (n.136-52del) | gnomAD v4 |
| 9 | g.127659979A= | CA1879905735 | STXBP1 | c.205-51A= (n.205-51A=) c.247-51A= (n.247-51A=) c.270-51A= (n.270-51A=) c.*1111-51A= (n.*1111-51A=) c.189-51A= c.136-51A= (n.136-51A=) | |
| 9 | g.127659979A>T | CA860172854 | STXBP1 | c.205-51A>T (n.205-51A>T) c.247-51A>T (n.247-51A>T) c.270-51A>T (n.270-51A>T) c.*1111-51A>T (n.*1111-51A>T) c.189-51A>T c.136-51A>T (n.136-51A>T) | dbSNP |
| 9 | g.127659983G>A | CA2691772255 | STXBP1 | c.205-47G>A (n.205-47G>A) c.247-47G>A (n.247-47G>A) c.270-47G>A (n.270-47G>A) c.*1111-47G>A (n.*1111-47G>A) c.189-47G>A c.136-47G>A (n.136-47G>A) | gnomAD v4 |
| 9 | g.127659984G>A | CA2691772256 | STXBP1 | c.205-46G>A (n.205-46G>A) c.247-46G>A (n.247-46G>A) c.270-46G>A (n.270-46G>A) c.*1111-46G>A (n.*1111-46G>A) c.189-46G>A c.136-46G>A (n.136-46G>A) | gnomAD v4 |
| 9 | g.127659984G>T | CA2691772257 | STXBP1 | c.205-46G>T (n.205-46G>T) c.247-46G>T (n.247-46G>T) c.270-46G>T (n.270-46G>T) c.*1111-46G>T (n.*1111-46G>T) c.189-46G>T c.136-46G>T (n.136-46G>T) | gnomAD v4 |
| 9 | g.127659988T>C | CA1879905736 | STXBP1 | c.205-42T>C (n.205-42T>C) c.247-42T>C (n.247-42T>C) c.270-42T>C (n.270-42T>C) c.*1111-42T>C (n.*1111-42T>C) c.189-42T>C c.136-42T>C (n.136-42T>C) | dbSNP gnomAD v4 |
| 9 | g.127659988T= | CA1879905737 | STXBP1 | c.205-42T= (n.205-42T=) c.247-42T= (n.247-42T=) c.270-42T= (n.270-42T=) c.*1111-42T= (n.*1111-42T=) c.189-42T= c.136-42T= (n.136-42T=) | |
| 9 | g.127659991A>G | CA2691772258 | STXBP1 | c.205-39A>G (n.205-39A>G) c.247-39A>G (n.247-39A>G) c.270-39A>G (n.270-39A>G) c.*1111-39A>G (n.*1111-39A>G) c.189-39A>G c.136-39A>G (n.136-39A>G) | gnomAD v4 |
| 9 | g.127659992A= | CA1879905739 | STXBP1 | c.205-38A= (n.205-38A=) c.247-38A= (n.247-38A=) c.270-38A= (n.270-38A=) c.*1111-38A= (n.*1111-38A=) c.189-38A= c.136-38A= (n.136-38A=) | |
| 9 | g.127659992A>G | CA5248263 | STXBP1 | c.205-38A>G (n.205-38A>G) c.247-38A>G (n.247-38A>G) c.270-38A>G (n.270-38A>G) c.*1111-38A>G (n.*1111-38A>G) c.189-38A>G c.136-38A>G (n.136-38A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127659993T>C | CA200262837 | STXBP1 | c.205-37T>C (n.205-37T>C) c.247-37T>C (n.247-37T>C) c.270-37T>C (n.270-37T>C) c.*1111-37T>C (n.*1111-37T>C) c.189-37T>C c.136-37T>C (n.136-37T>C) | dbSNP |
| 9 | g.127659993T= | CA1879905741 | STXBP1 | c.205-37T= (n.205-37T=) c.247-37T= (n.247-37T=) c.270-37T= (n.270-37T=) c.*1111-37T= (n.*1111-37T=) c.189-37T= c.136-37T= (n.136-37T=) | |
| 9 | g.127659994T>C | CA2691772259 | STXBP1 | c.205-36T>C (n.205-36T>C) c.247-36T>C (n.247-36T>C) c.270-36T>C (n.270-36T>C) c.*1111-36T>C (n.*1111-36T>C) c.189-36T>C c.136-36T>C (n.136-36T>C) | gnomAD v4 |
| 9 | g.127659995G>A | CA2691772260 | STXBP1 | c.205-35G>A (n.205-35G>A) c.247-35G>A (n.247-35G>A) c.270-35G>A (n.270-35G>A) c.*1111-35G>A (n.*1111-35G>A) c.189-35G>A c.136-35G>A (n.136-35G>A) | gnomAD v4 |
| 9 | g.127659999T>G | CA2579458507 | STXBP1 | c.205-31T>G (n.205-31T>G) c.247-31T>G (n.247-31T>G) c.270-31T>G (n.270-31T>G) c.*1111-31T>G (n.*1111-31T>G) c.189-31T>G c.136-31T>G (n.136-31T>G) | |
| 9 | g.127660000C>A | CA2691772261 | STXBP1 | c.205-30C>A (n.205-30C>A) c.247-30C>A (n.247-30C>A) c.270-30C>A (n.270-30C>A) c.*1111-30C>A (n.*1111-30C>A) c.189-30C>A c.136-30C>A (n.136-30C>A) | gnomAD v4 |
| 9 | g.127660000C>T | CA2785991813 | STXBP1 | c.205-30C>T (n.205-30C>T) c.247-30C>T (n.247-30C>T) c.270-30C>T (n.270-30C>T) c.*1111-30C>T (n.*1111-30C>T) c.189-30C>T c.136-30C>T (n.136-30C>T) | |
| 9 | g.127660001A= | CA1879905744 | STXBP1 | c.205-29A= (n.205-29A=) c.247-29A= (n.247-29A=) c.270-29A= (n.270-29A=) c.*1111-29A= (n.*1111-29A=) c.189-29A= c.136-29A= (n.136-29A=) | |
| 9 | g.127660001A>G | CA590592109 | STXBP1 | c.205-29A>G (n.205-29A>G) c.247-29A>G (n.247-29A>G) c.270-29A>G (n.270-29A>G) c.*1111-29A>G (n.*1111-29A>G) c.189-29A>G c.136-29A>G (n.136-29A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127660004T>G | CA1879905748 | STXBP1 | c.205-26T>G (n.205-26T>G) c.247-26T>G (n.247-26T>G) c.270-26T>G (n.270-26T>G) c.*1111-26T>G (n.*1111-26T>G) c.189-26T>G c.136-26T>G (n.136-26T>G) | dbSNP |
| 9 | g.127660004T= | CA1879905747 | STXBP1 | c.205-26T= (n.205-26T=) c.247-26T= (n.247-26T=) c.270-26T= (n.270-26T=) c.*1111-26T= (n.*1111-26T=) c.189-26T= c.136-26T= (n.136-26T=) | |
| 9 | g.127660005C>G | CA2691772262 | STXBP1 | c.205-25C>G (n.205-25C>G) c.247-25C>G (n.247-25C>G) c.270-25C>G (n.270-25C>G) c.*1111-25C>G (n.*1111-25C>G) c.189-25C>G c.136-25C>G (n.136-25C>G) | gnomAD v4 |
| 9 | g.127660005C>T | CA467218409 | STXBP1 | c.205-25C>T (n.205-25C>T) c.247-25C>T (n.247-25C>T) c.270-25C>T (n.270-25C>T) c.*1111-25C>T (n.*1111-25C>T) c.189-25C>T c.136-25C>T (n.136-25C>T) | |
| 9 | g.127660006C>A | CA2691772263 | STXBP1 | c.205-24C>A (n.205-24C>A) c.247-24C>A (n.247-24C>A) c.270-24C>A (n.270-24C>A) c.*1111-24C>A (n.*1111-24C>A) c.189-24C>A c.136-24C>A (n.136-24C>A) | gnomAD v4 |
| 9 | g.127660007C= | CA1879905750 | STXBP1 | c.205-23C= (n.205-23C=) c.247-23C= (n.247-23C=) c.270-23C= (n.270-23C=) c.*1111-23C= (n.*1111-23C=) c.189-23C= c.136-23C= (n.136-23C=) | |
| 9 | g.127660007C>T | CA5248264 | STXBP1 | c.205-23C>T (n.205-23C>T) c.247-23C>T (n.247-23C>T) c.270-23C>T (n.270-23C>T) c.*1111-23C>T (n.*1111-23C>T) c.189-23C>T c.136-23C>T (n.136-23C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660008T>C | CA2691772264 | STXBP1 | c.205-22T>C (n.205-22T>C) c.247-22T>C (n.247-22T>C) c.270-22T>C (n.270-22T>C) c.*1111-22T>C (n.*1111-22T>C) c.189-22T>C c.136-22T>C (n.136-22T>C) | gnomAD v4 |
| 9 | g.127660009_127660010delinsCT | CA1879905752 | STXBP1 | c.205-21_205-20delinsCT (n.205-21_205-20delinsCT) c.247-21_247-20delinsCT (n.247-21_247-20delinsCT) c.270-21_270-20delinsCT (n.270-21_270-20delinsCT) c.*1111-21_*1111-20delinsCT (n.*1111-21_*1111-20delinsCT) c.189-21_189-20delinsCT c.136-21_136-20delinsCT (n.136-21_136-20delinsCT) | |
| 9 | g.127660010_127660016del | CA2580079551 | STXBP1 | c.205-20_205-14del (n.205-20_205-14del) c.247-20_247-14del (n.247-20_247-14del) c.270-20_270-14del (n.270-20_270-14del) c.*1111-20_*1111-14del (n.*1111-20_*1111-14del) c.189-20_189-14del c.136-20_136-14del (n.136-20_136-14del) | ClinVar |
| 9 | g.127660010T>A | CA5248267 | STXBP1 | c.205-20T>A (n.205-20T>A) c.247-20T>A (n.247-20T>A) c.270-20T>A (n.270-20T>A) c.*1111-20T>A (n.*1111-20T>A) c.189-20T>A c.136-20T>A (n.136-20T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660010T>G | CA5248268 | STXBP1 | c.205-20T>G (n.205-20T>G) c.247-20T>G (n.247-20T>G) c.270-20T>G (n.270-20T>G) c.*1111-20T>G (n.*1111-20T>G) c.189-20T>G c.136-20T>G (n.136-20T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127660010T= | CA1879905758 | STXBP1 | c.205-20T= (n.205-20T=) c.247-20T= (n.247-20T=) c.270-20T= (n.270-20T=) c.*1111-20T= (n.*1111-20T=) c.189-20T= c.136-20T= (n.136-20T=) | |
| 9 | g.127660014dup | CA5248265 | STXBP1 | c.205-16dup (n.205-16dup) c.247-16dup (n.247-16dup) c.270-16dup (n.270-16dup) c.*1111-16dup (n.*1111-16dup) c.189-16dup c.136-16dup (n.136-16dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660014del | CA5248266 | STXBP1 | c.205-16del (n.205-16del) c.247-16del (n.247-16del) c.270-16del (n.270-16del) c.*1111-16del (n.*1111-16del) c.189-16del c.136-16del (n.136-16del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660012T>C | CA200262838 | STXBP1 | c.205-18T>C (n.205-18T>C) c.247-18T>C (n.247-18T>C) c.270-18T>C (n.270-18T>C) c.*1111-18T>C (n.*1111-18T>C) c.189-18T>C c.136-18T>C (n.136-18T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127660012T= | CA1879905761 | STXBP1 | c.205-18T= (n.205-18T=) c.247-18T= (n.247-18T=) c.270-18T= (n.270-18T=) c.*1111-18T= (n.*1111-18T=) c.189-18T= c.136-18T= (n.136-18T=) | |
| 9 | g.127660013T>A | CA590592110 | STXBP1 | c.205-17T>A (n.205-17T>A) c.247-17T>A (n.247-17T>A) c.270-17T>A (n.270-17T>A) c.*1111-17T>A (n.*1111-17T>A) c.189-17T>A c.136-17T>A (n.136-17T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660013T>C | CA5248269 | STXBP1 | c.205-17T>C (n.205-17T>C) c.247-17T>C (n.247-17T>C) c.270-17T>C (n.270-17T>C) c.*1111-17T>C (n.*1111-17T>C) c.189-17T>C c.136-17T>C (n.136-17T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660013T= | CA1879905764 | STXBP1 | c.205-17T= (n.205-17T=) c.247-17T= (n.247-17T=) c.270-17T= (n.270-17T=) c.*1111-17T= (n.*1111-17T=) c.189-17T= c.136-17T= (n.136-17T=) | |
| 9 | g.127660014T>A | CA590592111 | STXBP1 | c.205-16T>A (n.205-16T>A) c.247-16T>A (n.247-16T>A) c.270-16T>A (n.270-16T>A) c.*1111-16T>A (n.*1111-16T>A) c.189-16T>A c.136-16T>A (n.136-16T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127660014T>C | CA5248271 | STXBP1 | c.205-16T>C (n.205-16T>C) c.247-16T>C (n.247-16T>C) c.270-16T>C (n.270-16T>C) c.*1111-16T>C (n.*1111-16T>C) c.189-16T>C c.136-16T>C (n.136-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660014T= | CA1879905768 | STXBP1 | c.205-16T= (n.205-16T=) c.247-16T= (n.247-16T=) c.270-16T= (n.270-16T=) c.*1111-16T= (n.*1111-16T=) c.189-16T= c.136-16T= (n.136-16T=) | |
| 9 | g.127660014_127660015delinsTC | CA1879905770 | STXBP1 | c.205-16_205-15delinsTC (n.205-16_205-15delinsTC) c.247-16_247-15delinsTC (n.247-16_247-15delinsTC) c.270-16_270-15delinsTC (n.270-16_270-15delinsTC) c.*1111-16_*1111-15delinsTC (n.*1111-16_*1111-15delinsTC) c.189-16_189-15delinsTC c.136-16_136-15delinsTC (n.136-16_136-15delinsTC) | |
| 9 | g.127660015C>A | CA1879905781 | STXBP1 | c.205-15C>A (n.205-15C>A) c.247-15C>A (n.247-15C>A) c.270-15C>A (n.270-15C>A) c.*1111-15C>A (n.*1111-15C>A) c.189-15C>A c.136-15C>A (n.136-15C>A) | dbSNP |
| 9 | g.127660015C= | CA1879905779 | STXBP1 | c.205-15C= (n.205-15C=) c.247-15C= (n.247-15C=) c.270-15C= (n.270-15C=) c.*1111-15C= (n.*1111-15C=) c.189-15C= c.136-15C= (n.136-15C=) | |
| 9 | g.127660015C>G | CA2691772265 | STXBP1 | c.205-15C>G (n.205-15C>G) c.247-15C>G (n.247-15C>G) c.270-15C>G (n.270-15C>G) c.*1111-15C>G (n.*1111-15C>G) c.189-15C>G c.136-15C>G (n.136-15C>G) | gnomAD v4 |
| 9 | g.127660015C>T | CA1879905782 | STXBP1 | c.205-15C>T (n.205-15C>T) c.247-15C>T (n.247-15C>T) c.270-15C>T (n.270-15C>T) c.*1111-15C>T (n.*1111-15C>T) c.189-15C>T c.136-15C>T (n.136-15C>T) | dbSNP |
| 9 | g.127660021dup | CA5248270 | STXBP1 | c.205-9dup (n.205-9dup) c.247-9dup (n.247-9dup) c.270-9dup (n.270-9dup) c.*1111-9dup (n.*1111-9dup) c.189-9dup c.136-9dup (n.136-9dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660021del | CA590592113 | STXBP1 | c.205-9del (n.205-9del) c.247-9del (n.247-9del) c.270-9del (n.270-9del) c.*1111-9del (n.*1111-9del) c.189-9del c.136-9del (n.136-9del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.127660016C>A | CA860172889 | STXBP1 | c.205-14C>A (n.205-14C>A) c.247-14C>A (n.247-14C>A) c.270-14C>A (n.270-14C>A) c.*1111-14C>A (n.*1111-14C>A) c.189-14C>A c.136-14C>A (n.136-14C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127660016C= | CA1879905787 | STXBP1 | c.205-14C= (n.205-14C=) c.247-14C= (n.247-14C=) c.270-14C= (n.270-14C=) c.*1111-14C= (n.*1111-14C=) c.189-14C= c.136-14C= (n.136-14C=) | |
| 9 | g.127660016C>G | CA5248272 | STXBP1 | c.205-14C>G (n.205-14C>G) c.247-14C>G (n.247-14C>G) c.270-14C>G (n.270-14C>G) c.*1111-14C>G (n.*1111-14C>G) c.189-14C>G c.136-14C>G (n.136-14C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127660016C>T | CA5248273 | STXBP1 | c.205-14C>T (n.205-14C>T) c.247-14C>T (n.247-14C>T) c.270-14C>T (n.270-14C>T) c.*1111-14C>T (n.*1111-14C>T) c.189-14C>T c.136-14C>T (n.136-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660017C>A | CA1129255969 | STXBP1 | c.205-13C>A (n.205-13C>A) c.247-13C>A (n.247-13C>A) c.270-13C>A (n.270-13C>A) c.*1111-13C>A (n.*1111-13C>A) c.189-13C>A c.136-13C>A (n.136-13C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127660017C= | CA1879905790 | STXBP1 | c.205-13C= (n.205-13C=) c.247-13C= (n.247-13C=) c.270-13C= (n.270-13C=) c.*1111-13C= (n.*1111-13C=) c.189-13C= c.136-13C= (n.136-13C=) | |
| 9 | g.127660017C>G | CA5248274 | STXBP1 | c.205-13C>G (n.205-13C>G) c.247-13C>G (n.247-13C>G) c.270-13C>G (n.270-13C>G) c.*1111-13C>G (n.*1111-13C>G) c.189-13C>G c.136-13C>G (n.136-13C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660017C>T | CA2573144039 | STXBP1 | c.205-13C>T (n.205-13C>T) c.247-13C>T (n.247-13C>T) c.270-13C>T (n.270-13C>T) c.*1111-13C>T (n.*1111-13C>T) c.189-13C>T c.136-13C>T (n.136-13C>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127660018C= | CA1879905794 | STXBP1 | c.205-12C= (n.205-12C=) c.247-12C= (n.247-12C=) c.270-12C= (n.270-12C=) c.*1111-12C= (n.*1111-12C=) c.189-12C= c.136-12C= (n.136-12C=) | |
| 9 | g.127660018C>T | CA200262839 | STXBP1 | c.205-12C>T (n.205-12C>T) c.247-12C>T (n.247-12C>T) c.270-12C>T (n.270-12C>T) c.*1111-12C>T (n.*1111-12C>T) c.189-12C>T c.136-12C>T (n.136-12C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127660019C= | CA1879905798 | STXBP1 | c.205-11C= (n.205-11C=) c.247-11C= (n.247-11C=) c.270-11C= (n.270-11C=) c.*1111-11C= (n.*1111-11C=) c.189-11C= c.136-11C= (n.136-11C=) | |
| 9 | g.127660019C>G | CA590592114 | STXBP1 | c.205-11C>G (n.205-11C>G) c.247-11C>G (n.247-11C>G) c.270-11C>G (n.270-11C>G) c.*1111-11C>G (n.*1111-11C>G) c.189-11C>G c.136-11C>G (n.136-11C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660019C>T | CA590592115 | STXBP1 | c.205-11C>T (n.205-11C>T) c.247-11C>T (n.247-11C>T) c.270-11C>T (n.270-11C>T) c.*1111-11C>T (n.*1111-11C>T) c.189-11C>T c.136-11C>T (n.136-11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660019_127660022del | CA2579458508 | STXBP1 | c.205-11_205-8del (n.205-11_205-8del) c.247-11_247-8del (n.247-11_247-8del) c.270-11_270-8del (n.270-11_270-8del) c.*1111-11_*1111-8del (n.*1111-11_*1111-8del) c.189-11_189-8del c.136-11_136-8del (n.136-11_136-8del) | |
| 9 | g.127660020C>A | CA2720456467 | STXBP1 | c.205-10C>A (n.205-10C>A) c.247-10C>A (n.247-10C>A) c.270-10C>A (n.270-10C>A) c.*1111-10C>A (n.*1111-10C>A) c.189-10C>A c.136-10C>A (n.136-10C>A) | dbSNP |
| 9 | g.127660020C= | CA1879905800 | STXBP1 | c.205-10C= (n.205-10C=) c.247-10C= (n.247-10C=) c.270-10C= (n.270-10C=) c.*1111-10C= (n.*1111-10C=) c.189-10C= c.136-10C= (n.136-10C=) | |
| 9 | g.127660020C>G | CA5248275 | STXBP1 | c.205-10C>G (n.205-10C>G) c.247-10C>G (n.247-10C>G) c.270-10C>G (n.270-10C>G) c.*1111-10C>G (n.*1111-10C>G) c.189-10C>G c.136-10C>G (n.136-10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660020C>T | CA2691772266 | STXBP1 | c.205-10C>T (n.205-10C>T) c.247-10C>T (n.247-10C>T) c.270-10C>T (n.270-10C>T) c.*1111-10C>T (n.*1111-10C>T) c.189-10C>T c.136-10C>T (n.136-10C>T) | gnomAD v4 |
| 9 | g.127660021C>A | CA2573144040 | STXBP1 | c.205-9C>A (n.205-9C>A) c.247-9C>A (n.247-9C>A) c.270-9C>A (n.270-9C>A) c.*1111-9C>A (n.*1111-9C>A) c.189-9C>A c.136-9C>A (n.136-9C>A) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127660021C= | CA1879905803 | STXBP1 | c.205-9C= (n.205-9C=) c.247-9C= (n.247-9C=) c.270-9C= (n.270-9C=) c.*1111-9C= (n.*1111-9C=) c.189-9C= c.136-9C= (n.136-9C=) | |
| 9 | g.127660021C>G | CA5248276 | STXBP1 | c.205-9C>G (n.205-9C>G) c.247-9C>G (n.247-9C>G) c.270-9C>G (n.270-9C>G) c.*1111-9C>G (n.*1111-9C>G) c.189-9C>G c.136-9C>G (n.136-9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660022A= | CA1879905807 | STXBP1 | c.205-8A= (n.205-8A=) c.247-8A= (n.247-8A=) c.270-8A= (n.270-8A=) c.*1111-8A= (n.*1111-8A=) c.189-8A= c.136-8A= (n.136-8A=) | |
| 9 | g.127660022A>G | CA295201 | STXBP1 | c.205-8A>G (n.205-8A>G) c.247-8A>G (n.247-8A>G) c.270-8A>G (n.270-8A>G) c.*1111-8A>G (n.*1111-8A>G) c.189-8A>G c.136-8A>G (n.136-8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660025del | CA2553636375 | STXBP1 | c.205-5del (n.205-5del) c.247-5del (n.247-5del) c.270-5del (n.270-5del) c.*1111-5del (n.*1111-5del) c.189-5del c.136-5del (n.136-5del) | |
| 9 | g.127660027C= | CA1879905812 | STXBP1 | c.205-3C= (n.205-3C=) c.247-3C= (n.247-3C=) c.270-3C= (n.270-3C=) c.*1111-3C= (n.*1111-3C=) c.189-3C= c.136-3C= (n.136-3C=) | |
| 9 | g.127660027C>T | CA5248277 | STXBP1 | c.205-3C>T (n.205-3C>T) c.247-3C>T (n.247-3C>T) c.270-3C>T (n.270-3C>T) c.*1111-3C>T (n.*1111-3C>T) c.189-3C>T c.136-3C>T (n.136-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127660028A>C | CA374931663 | STXBP1 | c.205-2A>C (n.205-2A>C) c.247-2A>C (n.247-2A>C) c.270-2A>C (n.270-2A>C) c.*1111-2A>C (n.*1111-2A>C) c.189-2A>C c.136-2A>C (n.136-2A>C) | |
| 9 | g.127660028A>G | CA374931664 | STXBP1 | c.205-2A>G (n.205-2A>G) c.247-2A>G (n.247-2A>G) c.270-2A>G (n.270-2A>G) c.*1111-2A>G (n.*1111-2A>G) c.189-2A>G c.136-2A>G (n.136-2A>G) | |
| 9 | g.127660028A>T | CA374931665 | STXBP1 | c.205-2A>T (n.205-2A>T) c.247-2A>T (n.247-2A>T) c.270-2A>T (n.270-2A>T) c.*1111-2A>T (n.*1111-2A>T) c.189-2A>T c.136-2A>T (n.136-2A>T) | |
| 9 | g.127660030_127660059del | CA2573144041 | STXBP1 | c.205_234del c.247_276del c.270_299del c.*1111_*1140del c.189_218del c.136_165del | ClinVar dbSNP |
| 9 | g.127660029del | CA658773355 | STXBP1 | c.205-1del (n.205-1del) c.247-1del (n.247-1del) c.270-1del (n.270-1del) c.*1111-1del (n.*1111-1del) c.189-1del c.136-1del (n.136-1del) | |
| 9 | g.127660029G>A | CA374931666 | STXBP1 | c.205-1G>A (n.205-1G>A) c.247-1G>A (n.247-1G>A) c.270-1G>A (n.270-1G>A) c.*1111-1G>A (n.*1111-1G>A) c.189-1G>A c.136-1G>A (n.136-1G>A) | ClinVar dbSNP |
| 9 | g.127660029G>C | CA374931667 | STXBP1 | c.205-1G>C (n.205-1G>C) c.247-1G>C (n.247-1G>C) c.270-1G>C (n.270-1G>C) c.*1111-1G>C (n.*1111-1G>C) c.189-1G>C c.136-1G>C (n.136-1G>C) | |
| 9 | g.127660029G= | CA1879905816 | STXBP1 | c.205-1G= (n.205-1G=) c.247-1G= (n.247-1G=) c.270-1G= (n.270-1G=) c.*1111-1G= (n.*1111-1G=) c.189-1G= c.136-1G= (n.136-1G=) | |
| 9 | g.127660029G>T | CA374931668 | STXBP1 | c.205-1G>T (n.205-1G>T) c.247-1G>T (n.247-1G>T) c.270-1G>T (n.270-1G>T) c.*1111-1G>T (n.*1111-1G>T) c.189-1G>T c.136-1G>T (n.136-1G>T) | |
| 9 | g.127660030del | CA2739291259 | STXBP1 | c.205del (p.Ser69ProfsTer?) c.247del (p.Ser83ProfsTer?) c.270del (p.Pro91ArgfsTer7) c.*1111del (n.*1111del) c.189del c.136del (p.Ser46ProfsTer?) | |
| 9 | g.127660030T>A | CA374931669 | STXBP1 | c.205T>A (p.Ser69Thr) c.247T>A (p.Ser83Thr) c.270T>A (p.Ser90Arg) c.*1111T>A (n.*1111T>A) c.189T>A c.136T>A (p.Ser46Thr) | |
| 9 | g.127660030T>C | CA374931670 | STXBP1 | c.205T>C (p.Ser69Pro) c.247T>C (p.Ser83Pro) c.270T>C (p.Ser90=) c.*1111T>C (n.*1111T>C) c.189T>C c.136T>C (p.Ser46Pro) | dbSNP |
| 9 | g.127660030T>G | CA374931671 | STXBP1 | c.205T>G (p.Ser69Ala) c.247T>G (p.Ser83Ala) c.270T>G (p.Ser90Arg) c.*1111T>G (n.*1111T>G) c.189T>G c.136T>G (p.Ser46Ala) | |
| 9 | g.127660030T= | CA1879905819 | STXBP1 | c.205T= (p.Ser69=) c.247T= (p.Ser83=) c.270T= (p.Ser90=) c.*1111T= (n.*1111T=) c.189T= c.136T= (p.Ser46=) | |
| 9 | g.127660031C>A | CA374931674 | STXBP1 | c.206C>A (p.Ser69Tyr) c.248C>A (p.Ser83Tyr) c.271C>A (p.Pro91Thr) c.*1112C>A (n.*1112C>A) c.190C>A c.137C>A (p.Ser46Tyr) | |
| 9 | g.127660031C>G | CA374931673 | STXBP1 | c.206C>G (p.Ser69Cys) c.248C>G (p.Ser83Cys) c.271C>G (p.Pro91Ala) c.*1112C>G (n.*1112C>G) c.190C>G c.137C>G (p.Ser46Cys) | |
| 9 | g.127660031C>T | CA374931672 | STXBP1 | c.206C>T (p.Ser69Phe) c.248C>T (p.Ser83Phe) c.271C>T (p.Pro91Ser) c.*1112C>T (n.*1112C>T) c.190C>T c.137C>T (p.Ser46Phe) | ClinVar dbSNP |
| 9 | g.127660032C>A | CA467218416 | STXBP1 | c.207C>A (p.Ser69=) c.249C>A (p.Ser83=) c.272C>A (p.Pro91Gln) c.*1113C>A (n.*1113C>A) c.191C>A c.138C>A (p.Ser46=) | |
| 9 | g.127660032C= | CA1879905824 | STXBP1 | c.207C= (p.Ser69=) c.249C= (p.Ser83=) c.272C= (p.Pro91=) c.*1113C= (n.*1113C=) c.191C= c.138C= (p.Ser46=) | |
| 9 | g.127660032C>G | CA467218418 | STXBP1 | c.207C>G (p.Ser69=) c.249C>G (p.Ser83=) c.272C>G (p.Pro91Arg) c.*1113C>G (n.*1113C>G) c.191C>G c.138C>G (p.Ser46=) | ClinVar gnomAD v4 |
| 9 | g.127660032C>T | CA5248278 | STXBP1 | c.207C>T (p.Ser69=) c.249C>T (p.Ser83=) c.272C>T (p.Pro91Leu) c.*1113C>T (n.*1113C>T) c.191C>T c.138C>T (p.Ser46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.127660033G>A | CA318830 | STXBP1 | c.208G>A (p.Val70Ile) c.250G>A (p.Val84Ile) c.273G>A (p.Pro91=) c.*1114G>A (n.*1114G>A) c.192G>A c.139G>A (p.Val47Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.127660033G>C | CA374931675 | STXBP1 | c.208G>C (p.Val70Leu) c.250G>C (p.Val84Leu) c.273G>C (p.Pro91=) c.*1114G>C (n.*1114G>C) c.192G>C c.139G>C (p.Val47Leu) | |
| 9 | g.127660033G= | CA1879905834 | STXBP1 | c.208G= (p.Val70=) c.250G= (p.Val84=) c.273G= (p.Pro91=) c.*1114G= (n.*1114G=) c.192G= c.139G= (p.Val47=) | |
| 9 | g.127660033G>T | CA374931676 | STXBP1 | c.208G>T (p.Val70Phe) c.250G>T (p.Val84Phe) c.273G>T (p.Pro91=) c.*1114G>T (n.*1114G>T) c.192G>T c.139G>T (p.Val47Phe) | |
| 9 | g.127660034T>A | CA118454 | STXBP1 | c.209T>A (p.Val70Asp) c.251T>A (p.Val84Asp) c.274T>A (p.Ser92Thr) c.*1115T>A (n.*1115T>A) c.193T>A c.140T>A (p.Val47Asp) | ClinVar dbSNP |
| 9 | g.127660034T>C | CA374931677 | STXBP1 | c.209T>C (p.Val70Ala) c.251T>C (p.Val84Ala) c.274T>C (p.Ser92Pro) c.*1115T>C (n.*1115T>C) c.193T>C c.140T>C (p.Val47Ala) | |
| 9 | g.127660034T>G | CA374931678 | STXBP1 | c.209T>G (p.Val70Gly) c.251T>G (p.Val84Gly) c.274T>G (p.Ser92Ala) c.*1115T>G (n.*1115T>G) c.193T>G c.140T>G (p.Val47Gly) | |
| 9 | g.127660034T= | CA1879905842 | STXBP1 | c.209T= (p.Val70=) c.251T= (p.Val84=) c.274T= (p.Ser92=) c.*1115T= (n.*1115T=) c.193T= c.140T= (p.Val47=) | |
| 9 | g.127660035C>A | CA467218422 | STXBP1 | c.210C>A (p.Val70=) c.252C>A (p.Val84=) c.275C>A (p.Ser92Tyr) c.*1116C>A (n.*1116C>A) c.194C>A c.141C>A (p.Val47=) | |
| 9 | g.127660035C>G | CA467218423 | STXBP1 | c.210C>G (p.Val70=) c.252C>G (p.Val84=) c.275C>G (p.Ser92Cys) c.*1116C>G (n.*1116C>G) c.194C>G c.141C>G (p.Val47=) | |
| 9 | g.127660035C>T | CA467218424 | STXBP1 | c.210C>T (p.Val70=) c.252C>T (p.Val84=) c.275C>T (p.Ser92Phe) c.*1116C>T (n.*1116C>T) c.194C>T c.141C>T (p.Val47=) | |
| 9 | g.127660036C>A | CA374931679 | STXBP1 | c.211C>A (p.His71Asn) c.253C>A (p.His85Asn) c.276C>A (p.Ser92=) c.*1117C>A (n.*1117C>A) c.195C>A c.142C>A (p.His48Asn) | |
| 9 | g.127660036C>G | CA374931680 | STXBP1 | c.211C>G (p.His71Asp) c.253C>G (p.His85Asp) c.276C>G (p.Ser92=) c.*1117C>G (n.*1117C>G) c.195C>G c.142C>G (p.His48Asp) | |
| 9 | g.127660036C>T | CA374931681 | STXBP1 | c.211C>T (p.His71Tyr) c.253C>T (p.His85Tyr) c.276C>T (p.Ser92=) c.*1117C>T (n.*1117C>T) c.195C>T c.142C>T (p.His48Tyr) | gnomAD v4 |
| 9 | g.127660037A= | CA1879905847 | STXBP1 | c.212A= (p.His71=) c.254A= (p.His85=) c.277A= (p.Thr93=) c.*1118A= (n.*1118A=) c.196A= c.143A= (p.His48=) | |
| 9 | g.127660037A>C | CA374931682 | STXBP1 | c.212A>C (p.His71Pro) c.254A>C (p.His85Pro) c.277A>C (p.Thr93Pro) c.*1118A>C (n.*1118A>C) c.196A>C c.143A>C (p.His48Pro) | |
| 9 | g.127660037A>G | CA5248279 | STXBP1 | c.212A>G (p.His71Arg) c.254A>G (p.His85Arg) c.277A>G (p.Thr93Ala) c.*1118A>G (n.*1118A>G) c.196A>G c.143A>G (p.His48Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660037A>T | CA374931683 | STXBP1 | c.212A>T (p.His71Leu) c.254A>T (p.His85Leu) c.277A>T (p.Thr93Ser) c.*1118A>T (n.*1118A>T) c.196A>T c.143A>T (p.His48Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127660038C>A | CA374931685 | STXBP1 | c.213C>A (p.His71Gln) c.255C>A (p.His85Gln) c.278C>A (p.Thr93Asn) c.*1119C>A (n.*1119C>A) c.197C>A c.144C>A (p.His48Gln) | |
| 9 | g.127660038C= | CA1879905856 | STXBP1 | c.213C= (p.His71=) c.255C= (p.His85=) c.278C= (p.Thr93=) c.*1119C= (n.*1119C=) c.197C= c.144C= (p.His48=) | |
| 9 | g.127660038C>G | CA374931684 | STXBP1 | c.213C>G (p.His71Gln) c.255C>G (p.His85Gln) c.278C>G (p.Thr93Ser) c.*1119C>G (n.*1119C>G) c.197C>G c.144C>G (p.His48Gln) | |
| 9 | g.127660038C>T | CA5248280 | STXBP1 | c.213C>T (p.His71=) c.255C>T (p.His85=) c.278C>T (p.Thr93Ile) c.*1119C>T (n.*1119C>T) c.197C>T c.144C>T (p.His48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660043_127660044dup | CA16618737 | STXBP1 | c.218_219dup (p.Ile74SerfsTer?) c.260_261dup (p.Ile88SerfsTer?) c.283_284dup (p.Ser96HisfsTer3) c.*1124_*1125dup (n.*1124_*1125dup) c.202_203dup c.149_150dup (p.Ile51SerfsTer?) c.260_261dup (p.Ile88SerfsTer30) | ClinVar |
| 9 | g.127660043_127660044del | CA915947149 | STXBP1 | c.218_219del (p.Leu73HisfsTer3) c.260_261del (p.Leu87HisfsTer3) c.283_284del (p.Ser95IlefsTer?) c.*1124_*1125del (n.*1124_*1125del) c.202_203del c.149_150del (p.Leu50HisfsTer3) | ClinVar |
| 9 | g.127660039T>A | CA374931686 | STXBP1 | c.214T>A (p.Ser72Thr) c.256T>A (p.Ser86Thr) c.279T>A (p.Thr93=) c.*1120T>A (n.*1120T>A) c.198T>A c.145T>A (p.Ser49Thr) | |
| 9 | g.127660039T>C | CA374931687 | STXBP1 | c.214T>C (p.Ser72Pro) c.256T>C (p.Ser86Pro) c.279T>C (p.Thr93=) c.*1120T>C (n.*1120T>C) c.198T>C c.145T>C (p.Ser49Pro) | ClinVar |
| 9 | g.127660039T>G | CA374931688 | STXBP1 | c.214T>G (p.Ser72Ala) c.256T>G (p.Ser86Ala) c.279T>G (p.Thr93=) c.*1120T>G (n.*1120T>G) c.198T>G c.145T>G (p.Ser49Ala) | |
| 9 | g.127660040C>A | CA374931689 | STXBP1 | c.215C>A (p.Ser72Tyr) c.257C>A (p.Ser86Tyr) c.280C>A (p.Leu94Ile) c.*1121C>A (n.*1121C>A) c.199C>A c.146C>A (p.Ser49Tyr) | |
| 9 | g.127660040C= | CA1879905859 | STXBP1 | c.215C= (p.Ser72=) c.257C= (p.Ser86=) c.280C= (p.Leu94=) c.*1121C= (n.*1121C=) c.199C= c.146C= (p.Ser49=) | |
| 9 | g.127660040C>G | CA374931690 | STXBP1 | c.215C>G (p.Ser72Cys) c.257C>G (p.Ser86Cys) c.280C>G (p.Leu94Val) c.*1121C>G (n.*1121C>G) c.199C>G c.146C>G (p.Ser49Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127660040C>T | CA374931691 | STXBP1 | c.215C>T (p.Ser72Phe) c.257C>T (p.Ser86Phe) c.280C>T (p.Leu94Phe) c.*1121C>T (n.*1121C>T) c.199C>T c.146C>T (p.Ser49Phe) | gnomAD v4 |
| 9 | g.127660041T>A | CA467218433 | STXBP1 | c.216T>A (p.Ser72=) c.258T>A (p.Ser86=) c.281T>A (p.Leu94His) c.*1122T>A (n.*1122T>A) c.200T>A c.147T>A (p.Ser49=) | |
| 9 | g.127660041T>C | CA467218434 | STXBP1 | c.216T>C (p.Ser72=) c.258T>C (p.Ser86=) c.281T>C (p.Leu94Pro) c.*1122T>C (n.*1122T>C) c.200T>C c.147T>C (p.Ser49=) | gnomAD v4 |
| 9 | g.127660041T>G | CA467218435 | STXBP1 | c.216T>G (p.Ser72=) c.258T>G (p.Ser86=) c.281T>G (p.Leu94Arg) c.*1122T>G (n.*1122T>G) c.200T>G c.147T>G (p.Ser49=) | |
| 9 | g.127660042C>A | CA374931692 | STXBP1 | c.217C>A (p.Leu73Ile) c.259C>A (p.Leu87Ile) c.282C>A (p.Leu94=) c.*1123C>A (n.*1123C>A) c.201C>A c.148C>A (p.Leu50Ile) | |
| 9 | g.127660042C= | CA1879905864 | STXBP1 | c.217C= (p.Leu73=) c.259C= (p.Leu87=) c.282C= (p.Leu94=) c.*1123C= (n.*1123C=) c.201C= c.148C= (p.Leu50=) | |
| 9 | g.127660042C>G | CA374931693 | STXBP1 | c.217C>G (p.Leu73Val) c.259C>G (p.Leu87Val) c.282C>G (p.Leu94=) c.*1123C>G (n.*1123C>G) c.201C>G c.148C>G (p.Leu50Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127660042C>T | CA374931694 | STXBP1 | c.217C>T (p.Leu73Phe) c.259C>T (p.Leu87Phe) c.282C>T (p.Leu94=) c.*1123C>T (n.*1123C>T) c.201C>T c.148C>T (p.Leu50Phe) | |
| 9 | g.127660043T>A | CA374931695 | STXBP1 | c.218T>A (p.Leu73His) c.260T>A (p.Leu87His) c.283T>A (p.Ser95Thr) c.*1124T>A (n.*1124T>A) c.202T>A c.149T>A (p.Leu50His) | |
| 9 | g.127660043T>C | CA374931696 | STXBP1 | c.218T>C (p.Leu73Pro) c.260T>C (p.Leu87Pro) c.283T>C (p.Ser95Pro) c.*1124T>C (n.*1124T>C) c.202T>C c.149T>C (p.Leu50Pro) | |
| 9 | g.127660043T>G | CA374931697 | STXBP1 | c.218T>G (p.Leu73Arg) c.260T>G (p.Leu87Arg) c.283T>G (p.Ser95Ala) c.*1124T>G (n.*1124T>G) c.202T>G c.149T>G (p.Leu50Arg) | |
| 9 | g.127660046_127660048del | CA2739291260 | STXBP1 | c.221_223del (p.Ile74del) c.263_265del (p.Ile88del) c.286_288del (p.Ser96del) c.*1127_*1129del (n.*1127_*1129del) c.205_207del c.152_154del (p.Ile51del) | |
| 9 | g.127660044C>A | CA467218438 | STXBP1 | c.219C>A (p.Leu73=) c.261C>A (p.Leu87=) c.284C>A (p.Ser95Ter) c.*1125C>A (n.*1125C>A) c.203C>A c.150C>A (p.Leu50=) | |
| 9 | g.127660044C>G | CA467218439 | STXBP1 | c.219C>G (p.Leu73=) c.261C>G (p.Leu87=) c.284C>G (p.Ser95Ter) c.*1125C>G (n.*1125C>G) c.203C>G c.150C>G (p.Leu50=) | |
| 9 | g.127660044C>T | CA467218440 | STXBP1 | c.219C>T (p.Leu73=) c.261C>T (p.Leu87=) c.284C>T (p.Ser95Leu) c.*1125C>T (n.*1125C>T) c.203C>T c.150C>T (p.Leu50=) | gnomAD v4 |
| 9 | g.127660045A>C | CA374931699 | STXBP1 | c.220A>C (p.Ile74Leu) c.262A>C (p.Ile88Leu) c.285A>C (p.Ser95=) c.*1126A>C (n.*1126A>C) c.204A>C c.151A>C (p.Ile51Leu) | |
| 9 | g.127660045A>G | CA374931700 | STXBP1 | c.220A>G (p.Ile74Val) c.262A>G (p.Ile88Val) c.285A>G (p.Ser95=) c.*1126A>G (n.*1126A>G) c.204A>G c.151A>G (p.Ile51Val) | |
| 9 | g.127660045A>T | CA374931698 | STXBP1 | c.220A>T (p.Ile74Phe) c.262A>T (p.Ile88Phe) c.285A>T (p.Ser95=) c.*1126A>T (n.*1126A>T) c.204A>T c.151A>T (p.Ile51Phe) | |
| 9 | g.127660046T>A | CA374931702 | STXBP1 | c.221T>A (p.Ile74Asn) c.263T>A (p.Ile88Asn) c.286T>A (p.Ser96Thr) c.*1127T>A (n.*1127T>A) c.205T>A c.152T>A (p.Ile51Asn) | |
| 9 | g.127660046T>C | CA374931701 | STXBP1 | c.221T>C (p.Ile74Thr) c.263T>C (p.Ile88Thr) c.286T>C (p.Ser96Pro) c.*1127T>C (n.*1127T>C) c.205T>C c.152T>C (p.Ile51Thr) | dbSNP |
| 9 | g.127660046T>G | CA374931703 | STXBP1 | c.221T>G (p.Ile74Ser) c.263T>G (p.Ile88Ser) c.286T>G (p.Ser96Ala) c.*1127T>G (n.*1127T>G) c.205T>G c.152T>G (p.Ile51Ser) | |
| 9 | g.127660046T= | CA1879905866 | STXBP1 | c.221T= (p.Ile74=) c.263T= (p.Ile88=) c.286T= (p.Ser96=) c.*1127T= (n.*1127T=) c.205T= c.152T= (p.Ile51=) | |
| 9 | g.127660047C>A | CA467218442 | STXBP1 | c.222C>A (p.Ile74=) c.264C>A (p.Ile88=) c.287C>A (p.Ser96Ter) c.*1128C>A (n.*1128C>A) c.206C>A c.153C>A (p.Ile51=) | gnomAD v4 |
| 9 | g.127660047C= | CA1879905872 | STXBP1 | c.222C= (p.Ile74=) c.264C= (p.Ile88=) c.287C= (p.Ser96=) c.*1128C= (n.*1128C=) c.206C= c.153C= (p.Ile51=) | |
| 9 | g.127660047C>G | CA374931704 | STXBP1 | c.222C>G (p.Ile74Met) c.264C>G (p.Ile88Met) c.287C>G (p.Ser96Ter) c.*1128C>G (n.*1128C>G) c.206C>G c.153C>G (p.Ile51Met) | |
| 9 | g.127660047C>T | CA467218441 | STXBP1 | c.222C>T (p.Ile74=) c.264C>T (p.Ile88=) c.287C>T (p.Ser96Leu) c.*1128C>T (n.*1128C>T) c.206C>T c.153C>T (p.Ile51=) | dbSNP |
| 9 | g.127660047_127660048delinsCA | CA1879905870 | STXBP1 | c.222_223delinsCA (p.Ile74=) c.264_265delinsCA (p.Ile88=) c.287_288delinsCA (p.Ser96=) c.*1128_*1129delinsCA (n.*1128_*1129delinsCA) c.206_207delinsCA c.153_154delinsCA (p.Ile51=) | |
| 9 | g.127660048del | CA16612695 | STXBP1 | c.223del (p.Ser75ValfsTer?) c.265del (p.Ser89ValfsTer?) c.288del (p.Val97Ter) c.*1129del (n.*1129del) c.207del c.154del (p.Ser52ValfsTer?) c.265del (p.Ser89ValfsTer28) | ClinVar dbSNP |
| 9 | g.127660048A>C | CA374931705 | STXBP1 | c.223A>C (p.Ser75Arg) c.265A>C (p.Ser89Arg) c.288A>C (p.Ser96=) c.*1129A>C (n.*1129A>C) c.207A>C c.154A>C (p.Ser52Arg) | |
| 9 | g.127660048A>G | CA374931706 | STXBP1 | c.223A>G (p.Ser75Gly) c.265A>G (p.Ser89Gly) c.288A>G (p.Ser96=) c.*1129A>G (n.*1129A>G) c.207A>G c.154A>G (p.Ser52Gly) | |
| 9 | g.127660048A>T | CA374931707 | STXBP1 | c.223A>T (p.Ser75Cys) c.265A>T (p.Ser89Cys) c.288A>T (p.Ser96=) c.*1129A>T (n.*1129A>T) c.207A>T c.154A>T (p.Ser52Cys) | |
| 9 | g.127660049G>A | CA374931708 | STXBP1 | c.224G>A (p.Ser75Asn) c.266G>A (p.Ser89Asn) c.289G>A (p.Val97Met) c.*1130G>A (n.*1130G>A) c.208G>A c.155G>A (p.Ser52Asn) | |
| 9 | g.127660049G>C | CA374931709 | STXBP1 | c.224G>C (p.Ser75Thr) c.266G>C (p.Ser89Thr) c.289G>C (p.Val97Leu) c.*1130G>C (n.*1130G>C) c.208G>C c.155G>C (p.Ser52Thr) | |
| 9 | g.127660049G>T | CA374931710 | STXBP1 | c.224G>T (p.Ser75Ile) c.266G>T (p.Ser89Ile) c.289G>T (p.Val97Leu) c.*1130G>T (n.*1130G>T) c.208G>T c.155G>T (p.Ser52Ile) | |
| 9 | g.127660050T>A | CA374931711 | STXBP1 | c.225T>A (p.Ser75Arg) c.267T>A (p.Ser89Arg) c.290T>A (p.Val97Glu) c.*1131T>A (n.*1131T>A) c.209T>A c.156T>A (p.Ser52Arg) | |
| 9 | g.127660050T>C | CA467218450 | STXBP1 | c.225T>C (p.Ser75=) c.267T>C (p.Ser89=) c.290T>C (p.Val97Ala) c.*1131T>C (n.*1131T>C) c.209T>C c.156T>C (p.Ser52=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127660050T>G | CA374931712 | STXBP1 | c.225T>G (p.Ser75Arg) c.267T>G (p.Ser89Arg) c.290T>G (p.Val97Gly) c.*1131T>G (n.*1131T>G) c.209T>G c.156T>G (p.Ser52Arg) | |
| 9 | g.127660050T= | CA1879905881 | STXBP1 | c.225T= (p.Ser75=) c.267T= (p.Ser89=) c.290T= (p.Val97=) c.*1131T= (n.*1131T=) c.209T= c.156T= (p.Ser52=) | |
| 9 | g.127660051G>A | CA374931713 | STXBP1 | c.226G>A (p.Asp76Asn) c.268G>A (p.Asp90Asn) c.291G>A (p.Val97=) c.*1132G>A (n.*1132G>A) c.210G>A c.157G>A (p.Asp53Asn) | |
| 9 | g.127660051G>C | CA374931714 | STXBP1 | c.226G>C (p.Asp76His) c.268G>C (p.Asp90His) c.291G>C (p.Val97=) c.*1132G>C (n.*1132G>C) c.210G>C c.157G>C (p.Asp53His) | ClinVar dbSNP |
| 9 | g.127660051G= | CA1879905888 | STXBP1 | c.226G= (p.Asp76=) c.268G= (p.Asp90=) c.291G= (p.Val97=) c.*1132G= (n.*1132G=) c.210G= c.157G= (p.Asp53=) | |
| 9 | g.127660051G>T | CA374931715 | STXBP1 | c.226G>T (p.Asp76Tyr) c.268G>T (p.Asp90Tyr) c.291G>T (p.Val97=) c.*1132G>T (n.*1132G>T) c.210G>T c.157G>T (p.Asp53Tyr) | |
| 9 | g.127660052A>C | CA374931716 | STXBP1 | c.227A>C (p.Asp76Ala) c.269A>C (p.Asp90Ala) c.292A>C (p.Thr98Pro) c.*1133A>C (n.*1133A>C) c.211A>C c.158A>C (p.Asp53Ala) | |
| 9 | g.127660052A>G | CA374931718 | STXBP1 | c.227A>G (p.Asp76Gly) c.269A>G (p.Asp90Gly) c.292A>G (p.Thr98Ala) c.*1133A>G (n.*1133A>G) c.211A>G c.158A>G (p.Asp53Gly) | |
| 9 | g.127660052A>T | CA374931717 | STXBP1 | c.227A>T (p.Asp76Val) c.269A>T (p.Asp90Val) c.292A>T (p.Thr98Ser) c.*1133A>T (n.*1133A>T) c.211A>T c.158A>T (p.Asp53Val) | |
| 9 | g.127660053C>A | CA374931719 | STXBP1 | c.228C>A (p.Asp76Glu) c.270C>A (p.Asp90Glu) c.293C>A (p.Thr98Asn) c.*1134C>A (n.*1134C>A) c.212C>A c.159C>A (p.Asp53Glu) | |
| 9 | g.127660053C>G | CA374931720 | STXBP1 | c.228C>G (p.Asp76Glu) c.270C>G (p.Asp90Glu) c.293C>G (p.Thr98Ser) c.*1134C>G (n.*1134C>G) c.212C>G c.159C>G (p.Asp53Glu) | |
| 9 | g.127660053C>T | CA467218455 | STXBP1 | c.228C>T (p.Asp76=) c.270C>T (p.Asp90=) c.293C>T (p.Thr98Ile) c.*1134C>T (n.*1134C>T) c.212C>T c.159C>T (p.Asp53=) | gnomAD v4 |
| 9 | g.127660054T>A | CA374931721 | STXBP1 | c.229T>A (p.Phe77Ile) c.271T>A (p.Phe91Ile) c.294T>A (p.Thr98=) c.*1135T>A (n.*1135T>A) c.213T>A c.160T>A (p.Phe54Ile) | |
| 9 | g.127660054T>C | CA374931722 | STXBP1 | c.229T>C (p.Phe77Leu) c.271T>C (p.Phe91Leu) c.294T>C (p.Thr98=) c.*1135T>C (n.*1135T>C) c.213T>C c.160T>C (p.Phe54Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127660054T>G | CA374931723 | STXBP1 | c.229T>G (p.Phe77Val) c.271T>G (p.Phe91Val) c.294T>G (p.Thr98=) c.*1135T>G (n.*1135T>G) c.213T>G c.160T>G (p.Phe54Val) | |
| 9 | g.127660054T= | CA1879905893 | STXBP1 | c.229T= (p.Phe77=) c.271T= (p.Phe91=) c.294T= (p.Thr98=) c.*1135T= (n.*1135T=) c.213T= c.160T= (p.Phe54=) | |
| 9 | g.127660056del | CA2695211179 | STXBP1 | c.231del (p.Phe77LeufsTer29) c.273del (p.Phe91LeufsTer29) c.296del (p.Leu99Ter) c.*1137del (n.*1137del) c.215del c.162del (p.Phe54LeufsTer29) c.231del (p.Phe77LeufsTer?) c.273del (p.Phe91LeufsTer26) | |
| 9 | g.127660055T>A | CA374931724 | STXBP1 | c.230T>A (p.Phe77Tyr) c.272T>A (p.Phe91Tyr) c.295T>A (p.Leu99Ile) c.*1136T>A (n.*1136T>A) c.214T>A c.161T>A (p.Phe54Tyr) | |
| 9 | g.127660055T>C | CA374931725 | STXBP1 | c.230T>C (p.Phe77Ser) c.272T>C (p.Phe91Ser) c.295T>C (p.Leu99=) c.*1136T>C (n.*1136T>C) c.214T>C c.161T>C (p.Phe54Ser) | |
| 9 | g.127660055T>G | CA374931726 | STXBP1 | c.230T>G (p.Phe77Cys) c.272T>G (p.Phe91Cys) c.295T>G (p.Leu99Val) c.*1136T>G (n.*1136T>G) c.214T>G c.161T>G (p.Phe54Cys) | |
| 9 | g.127660056T>A | CA200262840 | STXBP1 | c.231T>A (p.Phe77Leu) c.273T>A (p.Phe91Leu) c.296T>A (p.Leu99Ter) c.*1137T>A (n.*1137T>A) c.215T>A c.162T>A (p.Phe54Leu) | dbSNP gnomAD v4 |
| 9 | g.127660056T>C | CA467218462 | STXBP1 | c.231T>C (p.Phe77=) c.273T>C (p.Phe91=) c.296T>C (p.Leu99Ser) c.*1137T>C (n.*1137T>C) c.215T>C c.162T>C (p.Phe54=) | |
| 9 | g.127660056T>G | CA374931727 | STXBP1 | c.231T>G (p.Phe77Leu) c.273T>G (p.Phe91Leu) c.296T>G (p.Leu99Ter) c.*1137T>G (n.*1137T>G) c.215T>G c.162T>G (p.Phe54Leu) | |
| 9 | g.127660056T= | CA1879905895 | STXBP1 | c.231T= (p.Phe77=) c.273T= (p.Phe91=) c.296T= (p.Leu99=) c.*1137T= (n.*1137T=) c.215T= c.162T= (p.Phe54=) | |
| 9 | g.127660057A>C | CA374931729 | STXBP1 | c.232A>C (p.Lys78Gln) c.274A>C (p.Lys92Gln) c.297A>C (p.Leu99Phe) c.*1138A>C (n.*1138A>C) c.216A>C c.163A>C (p.Lys55Gln) | |
| 9 | g.127660057A>G | CA374931730 | STXBP1 | c.232A>G (p.Lys78Glu) c.274A>G (p.Lys92Glu) c.297A>G (p.Leu99=) c.*1138A>G (n.*1138A>G) c.216A>G c.163A>G (p.Lys55Glu) | |
| 9 | g.127660057A>T | CA374931728 | STXBP1 | c.232A>T (p.Lys78Ter) c.274A>T (p.Lys92Ter) c.297A>T (p.Leu99Phe) c.*1138A>T (n.*1138A>T) c.216A>T c.163A>T (p.Lys55Ter) | |
| 9 | g.127660058A>C | CA374931731 | STXBP1 | c.233A>C (p.Lys78Thr) c.275A>C (p.Lys92Thr) c.298A>C (p.Arg100=) c.*1139A>C (n.*1139A>C) c.217A>C c.164A>C (p.Lys55Thr) | |
| 9 | g.127660058A>G | CA374931732 | STXBP1 | c.233A>G (p.Lys78Arg) c.275A>G (p.Lys92Arg) c.298A>G (p.Arg100Gly) c.*1139A>G (n.*1139A>G) c.217A>G c.164A>G (p.Lys55Arg) | |
| 9 | g.127660058A>T | CA374931733 | STXBP1 | c.233A>T (p.Lys78Met) c.275A>T (p.Lys92Met) c.298A>T (p.Arg100Trp) c.*1139A>T (n.*1139A>T) c.217A>T c.164A>T (p.Lys55Met) | |
| 9 | g.127660059G>A | CA467218470 | STXBP1 | c.234G>A (p.Lys78=) c.276G>A (p.Lys92=) c.299G>A (p.Arg100Lys) c.*1140G>A (n.*1140G>A) c.218G>A c.165G>A (p.Lys55=) | COSMIC COSMIC |
| 9 | g.127660059G>C | CA374931734 | STXBP1 | c.234G>C (p.Lys78Asn) c.276G>C (p.Lys92Asn) c.299G>C (p.Arg100Thr) c.*1140G>C (n.*1140G>C) c.218G>C c.165G>C (p.Lys55Asn) | |
| 9 | g.127660059G>T | CA374931735 | STXBP1 | c.234G>T (p.Lys78Asn) c.276G>T (p.Lys92Asn) c.299G>T (p.Arg100Met) c.*1140G>T (n.*1140G>T) c.218G>T c.165G>T (p.Lys55Asn) | |
| 9 | g.127660060G>A | CA374931738 | STXBP1 | c.235G>A (p.Asp79Asn) c.277G>A (p.Asp93Asn) c.300G>A (p.Arg100=) c.*1141G>A (n.*1141G>A) c.219G>A c.166G>A (p.Asp56Asn) | |
| 9 | g.127660060G>C | CA374931737 | STXBP1 | c.235G>C (p.Asp79His) c.277G>C (p.Asp93His) c.300G>C (p.Arg100Ser) c.*1141G>C (n.*1141G>C) c.219G>C c.166G>C (p.Asp56His) | |
| 9 | g.127660060G>T | CA374931736 | STXBP1 | c.235G>T (p.Asp79Tyr) c.277G>T (p.Asp93Tyr) c.300G>T (p.Arg100Ser) c.*1141G>T (n.*1141G>T) c.219G>T c.166G>T (p.Asp56Tyr) | |
| 9 | g.127660061A= | CA1879905901 | STXBP1 | c.236A= (p.Asp79=) c.278A= (p.Asp93=) c.301A= (p.Thr101=) c.*1142A= (n.*1142A=) c.220A= c.167A= (p.Asp56=) | |
| 9 | g.127660061A>C | CA374931739 | STXBP1 | c.236A>C (p.Asp79Ala) c.278A>C (p.Asp93Ala) c.301A>C (p.Thr101Pro) c.*1142A>C (n.*1142A>C) c.220A>C c.167A>C (p.Asp56Ala) | dbSNP |
| 9 | g.127660061A>G | CA374931740 | STXBP1 | c.236A>G (p.Asp79Gly) c.278A>G (p.Asp93Gly) c.301A>G (p.Thr101Ala) c.*1142A>G (n.*1142A>G) c.220A>G c.167A>G (p.Asp56Gly) | |
| 9 | g.127660061A>T | CA374931741 | STXBP1 | c.236A>T (p.Asp79Val) c.278A>T (p.Asp93Val) c.301A>T (p.Thr101Ser) c.*1142A>T (n.*1142A>T) c.220A>T c.167A>T (p.Asp56Val) | |
| 9 | g.127660062C>A | CA374931742 | STXBP1 | c.237C>A (p.Asp79Glu) c.279C>A (p.Asp93Glu) c.302C>A (p.Thr101Asn) c.*1143C>A (n.*1143C>A) c.221C>A c.168C>A (p.Asp56Glu) | |
| 9 | g.127660062C= | CA1879905904 | STXBP1 | c.237C= (p.Asp79=) c.279C= (p.Asp93=) c.302C= (p.Thr101=) c.*1143C= (n.*1143C=) c.221C= c.168C= (p.Asp56=) | |
| 9 | g.127660062C>G | CA374931743 | STXBP1 | c.237C>G (p.Asp79Glu) c.279C>G (p.Asp93Glu) c.302C>G (p.Thr101Ser) c.*1143C>G (n.*1143C>G) c.221C>G c.168C>G (p.Asp56Glu) | |
| 9 | g.127660062C>T | CA200262841 | STXBP1 | c.237C>T (p.Asp79=) c.279C>T (p.Asp93=) c.302C>T (p.Thr101Ile) c.*1143C>T (n.*1143C>T) c.221C>T c.168C>T (p.Asp56=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127660063C>A | CA374931744 | STXBP1 | c.238C>A (p.Pro80Thr) c.280C>A (p.Pro94Thr) c.303C>A (p.Thr101=) c.*1144C>A (n.*1144C>A) c.222C>A c.169C>A (p.Pro57Thr) | |
| 9 | g.127660063C>G | CA374931746 | STXBP1 | c.238C>G (p.Pro80Ala) c.280C>G (p.Pro94Ala) c.303C>G (p.Thr101=) c.*1144C>G (n.*1144C>G) c.222C>G c.169C>G (p.Pro57Ala) | |
| 9 | g.127660063C>T | CA374931745 | STXBP1 | c.238C>T (p.Pro80Ser) c.280C>T (p.Pro94Ser) c.303C>T (p.Thr101=) c.*1144C>T (n.*1144C>T) c.222C>T c.169C>T (p.Pro57Ser) | |
| 9 | g.127660064C>A | CA374931747 | STXBP1 | c.239C>A (p.Pro80Gln) c.281C>A (p.Pro94Gln) c.304C>A (p.Arg102Ser) c.*1145C>A (n.*1145C>A) c.223C>A c.170C>A (p.Pro57Gln) | |
| 9 | g.127660064C= | CA1879905907 | STXBP1 | c.239C= (p.Pro80=) c.281C= (p.Pro94=) c.304C= (p.Arg102=) c.*1145C= (n.*1145C=) c.223C= c.170C= (p.Pro57=) | |
| 9 | g.127660064C>G | CA374931748 | STXBP1 | c.239C>G (p.Pro80Arg) c.281C>G (p.Pro94Arg) c.304C>G (p.Arg102Gly) c.*1145C>G (n.*1145C>G) c.223C>G c.170C>G (p.Pro57Arg) | |
| 9 | g.127660064C>T | CA318832 | STXBP1 | c.239C>T (p.Pro80Leu) c.281C>T (p.Pro94Leu) c.304C>T (p.Arg102Cys) c.*1145C>T (n.*1145C>T) c.223C>T c.170C>T (p.Pro57Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660065G>A | CA5248282 | STXBP1 | c.240G>A (p.Pro80=) c.282G>A (p.Pro94=) c.305G>A (p.Arg102His) c.*1146G>A (n.*1146G>A) c.224G>A c.171G>A (p.Pro57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660065G>C | CA467218486 | STXBP1 | c.240G>C (p.Pro80=) c.282G>C (p.Pro94=) c.305G>C (p.Arg102Pro) c.*1146G>C (n.*1146G>C) c.224G>C c.171G>C (p.Pro57=) | |
| 9 | g.127660065G= | CA1879905912 | STXBP1 | c.240G= (p.Pro80=) c.282G= (p.Pro94=) c.305G= (p.Arg102=) c.*1146G= (n.*1146G=) c.224G= c.171G= (p.Pro57=) | |
| 9 | g.127660065G>T | CA5248281 | STXBP1 | c.240G>T (p.Pro80=) c.282G>T (p.Pro94=) c.305G>T (p.Arg102Leu) c.*1146G>T (n.*1146G>T) c.224G>T c.171G>T (p.Pro57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660066C>A | CA374931750 | STXBP1 | c.241C>A (p.Pro81Thr) c.283C>A (p.Pro95Thr) c.306C>A (p.Arg102=) c.*1147C>A (n.*1147C>A) c.225C>A c.172C>A (p.Pro58Thr) | |
| 9 | g.127660066C>G | CA374931752 | STXBP1 | c.241C>G (p.Pro81Ala) c.283C>G (p.Pro95Ala) c.306C>G (p.Arg102=) c.*1147C>G (n.*1147C>G) c.225C>G c.172C>G (p.Pro58Ala) | |
| 9 | g.127660066C>T | CA374931753 | STXBP1 | c.241C>T (p.Pro81Ser) c.283C>T (p.Pro95Ser) c.306C>T (p.Arg102=) c.*1147C>T (n.*1147C>T) c.225C>T c.172C>T (p.Pro58Ser) | |
| 9 | g.127660067C>A | CA374931754 | STXBP1 | c.242C>A (p.Pro81Gln) c.284C>A (p.Pro95Gln) c.307C>A (p.Arg103=) c.*1148C>A (n.*1148C>A) c.226C>A c.173C>A (p.Pro58Gln) | |
| 9 | g.127660067C= | CA1879905918 | STXBP1 | c.242C= (p.Pro81=) c.284C= (p.Pro95=) c.307C= (p.Arg103=) c.*1148C= (n.*1148C=) c.226C= c.173C= (p.Pro58=) | |
| 9 | g.127660067C>G | CA374931755 | STXBP1 | c.242C>G (p.Pro81Arg) c.284C>G (p.Pro95Arg) c.307C>G (p.Arg103Gly) c.*1148C>G (n.*1148C>G) c.226C>G c.173C>G (p.Pro58Arg) | |
| 9 | g.127660067C>T | CA374931756 | STXBP1 | c.242C>T (p.Pro81Leu) c.284C>T (p.Pro95Leu) c.307C>T (p.Arg103Ter) c.*1148C>T (n.*1148C>T) c.226C>T c.173C>T (p.Pro58Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127660068G>A | CA5248283 | STXBP1 | c.243G>A (p.Pro81=) c.285G>A (p.Pro95=) c.308G>A (p.Arg103Gln) c.*1149G>A (n.*1149G>A) c.227G>A c.174G>A (p.Pro58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660068G>C | CA467218489 | STXBP1 | c.243G>C (p.Pro81=) c.285G>C (p.Pro95=) c.308G>C (p.Arg103Pro) c.*1149G>C (n.*1149G>C) c.227G>C c.174G>C (p.Pro58=) | |
| 9 | g.127660068G= | CA1879905923 | STXBP1 | c.243G= (p.Pro81=) c.285G= (p.Pro95=) c.308G= (p.Arg103=) c.*1149G= (n.*1149G=) c.227G= c.174G= (p.Pro58=) | |
| 9 | g.127660068G>T | CA467218491 | STXBP1 | c.243G>T (p.Pro81=) c.285G>T (p.Pro95=) c.308G>T (p.Arg103Leu) c.*1149G>T (n.*1149G>T) c.227G>T c.174G>T (p.Pro58=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127660069A>C | CA374931758 | STXBP1 | c.244A>C (p.Thr82Pro) c.286A>C (p.Thr96Pro) c.309A>C (p.Arg103=) c.*1150A>C (n.*1150A>C) c.228A>C c.175A>C (p.Thr59Pro) | |
| 9 | g.127660069A>G | CA374931759 | STXBP1 | c.244A>G (p.Thr82Ala) c.286A>G (p.Thr96Ala) c.309A>G (p.Arg103=) c.*1150A>G (n.*1150A>G) c.228A>G c.175A>G (p.Thr59Ala) | |
| 9 | g.127660069A>T | CA374931757 | STXBP1 | c.244A>T (p.Thr82Ser) c.286A>T (p.Thr96Ser) c.309A>T (p.Arg103=) c.*1150A>T (n.*1150A>T) c.228A>T c.175A>T (p.Thr59Ser) | |
| 9 | g.127660070C>A | CA374931762 | STXBP1 | c.245C>A (p.Thr82Asn) c.287C>A (p.Thr96Asn) c.310C>A (p.Leu104Met) c.*1151C>A (n.*1151C>A) c.229C>A c.176C>A (p.Thr59Asn) | |
| 9 | g.127660070C= | CA1879905927 | STXBP1 | c.245C= (p.Thr82=) c.287C= (p.Thr96=) c.310C= (p.Leu104=) c.*1151C= (n.*1151C=) c.229C= c.176C= (p.Thr59=) | |
| 9 | g.127660070C>G | CA374931760 | STXBP1 | c.245C>G (p.Thr82Ser) c.287C>G (p.Thr96Ser) c.310C>G (p.Leu104Val) c.*1151C>G (n.*1151C>G) c.229C>G c.176C>G (p.Thr59Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127660070C>T | CA374931761 | STXBP1 | c.245C>T (p.Thr82Ile) c.287C>T (p.Thr96Ile) c.310C>T (p.Leu104=) c.*1151C>T (n.*1151C>T) c.229C>T c.176C>T (p.Thr59Ile) | |
| 9 | g.127660071T>A | CA467218493 | STXBP1 | c.246T>A (p.Thr82=) c.288T>A (p.Thr96=) c.311T>A (p.Leu104Gln) c.*1152T>A (n.*1152T>A) c.230T>A c.177T>A (p.Thr59=) | |
| 9 | g.127660071T>C | CA467218495 | STXBP1 | c.246T>C (p.Thr82=) c.288T>C (p.Thr96=) c.311T>C (p.Leu104Pro) c.*1152T>C (n.*1152T>C) c.230T>C c.177T>C (p.Thr59=) | |
| 9 | g.127660071T>G | CA467218498 | STXBP1 | c.246T>G (p.Thr82=) c.288T>G (p.Thr96=) c.311T>G (p.Leu104Arg) c.*1152T>G (n.*1152T>G) c.230T>G c.177T>G (p.Thr59=) |