Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127653772_127653775del | CA2580616304 | STXBP1 | c.103_106del (p.Asp35SerfsTer2) c.145_148del (p.Asp49SerfsTer2) c.87_90del c.34_37del (p.Asp12SerfsTer2) | dbSNP |
9 | g.127653777_127653779del | CA2695211175 | STXBP1 | c.108_110del (p.Ile36del) c.150_152del (p.Ile50del) c.92_94del c.39_41del (p.Ile13del) | |
9 | g.127653775A= | CA1879900560 | STXBP1 | c.106A= (p.Ile36=) c.148A= (p.Ile50=) c.90A= c.37A= (p.Ile13=) | |
9 | g.127653775A>C | CA375176307 | STXBP1 | c.106A>C (p.Ile36Leu) c.148A>C (p.Ile50Leu) c.90A>C c.37A>C (p.Ile13Leu) | |
9 | g.127653775A>G | CA5248226 | STXBP1 | c.106A>G (p.Ile36Val) c.148A>G (p.Ile50Val) c.90A>G c.37A>G (p.Ile13Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127653775A>T | CA375176308 | STXBP1 | c.106A>T (p.Ile36Phe) c.148A>T (p.Ile50Phe) c.90A>T c.37A>T (p.Ile13Phe) | |
9 | g.127653775dup | CA16042628 | STXBP1 | c.106dup (p.Ile36AsnfsTer14) c.148dup (p.Ile50AsnfsTer14) c.148dup (p.Ile50AsnfsTer?) c.148dup (p.Ile50AsnfsTer16) c.90dup c.37dup (p.Ile13AsnfsTer14) | ClinVar dbSNP |
9 | g.127653775_127653776del | CA2580079567 | STXBP1 | c.106_107del (p.Ile36HisfsTer13) c.148_149del (p.Ile50HisfsTer13) c.148_149del (p.Ile50HisfsTer?) c.148_149del (p.Ile50HisfsTer15) c.90_91del c.37_38del (p.Ile13HisfsTer13) | ClinVar |
9 | g.127653776T>A | CA375176309 | STXBP1 | c.107T>A (p.Ile36Asn) c.149T>A (p.Ile50Asn) c.91T>A c.38T>A (p.Ile13Asn) | |
9 | g.127653776T>C | CA375176310 | STXBP1 | c.107T>C (p.Ile36Thr) c.149T>C (p.Ile50Thr) c.91T>C c.38T>C (p.Ile13Thr) | |
9 | g.127653776T>G | CA375176311 | STXBP1 | c.107T>G (p.Ile36Ser) c.149T>G (p.Ile50Ser) c.91T>G c.38T>G (p.Ile13Ser) | |
9 | g.127653777C>A | CA467433843 | STXBP1 | c.108C>A (p.Ile36=) c.150C>A (p.Ile50=) c.92C>A c.39C>A (p.Ile13=) | |
9 | g.127653777C= | CA1879900563 | STXBP1 | c.108C= (p.Ile36=) c.150C= (p.Ile50=) c.92C= c.39C= (p.Ile13=) | |
9 | g.127653777C>G | CA375176312 | STXBP1 | c.108C>G (p.Ile36Met) c.150C>G (p.Ile50Met) c.92C>G c.39C>G (p.Ile13Met) | |
9 | g.127653777C>T | CA467433845 | STXBP1 | c.108C>T (p.Ile36=) c.150C>T (p.Ile50=) c.92C>T c.39C>T (p.Ile13=) | dbSNP gnomAD v4 |
9 | g.127653778A= | CA1879900567 | STXBP1 | c.109A= (p.Met37=) c.151A= (p.Met51=) c.93A= c.40A= (p.Met14=) | |
9 | g.127653778A>C | CA375176313 | STXBP1 | c.109A>C (p.Met37Leu) c.151A>C (p.Met51Leu) c.93A>C c.40A>C (p.Met14Leu) | |
9 | g.127653778A>G | CA375176314 | STXBP1 | c.109A>G (p.Met37Val) c.151A>G (p.Met51Val) c.93A>G c.40A>G (p.Met14Val) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127653778A>T | CA375176315 | STXBP1 | c.109A>T (p.Met37Leu) c.151A>T (p.Met51Leu) c.93A>T c.40A>T (p.Met14Leu) | |
9 | g.127653779T>A | CA375176318 | STXBP1 | c.110T>A (p.Met37Lys) c.152T>A (p.Met51Lys) c.94T>A c.41T>A (p.Met14Lys) | |
9 | g.127653779T>C | CA375176316 | STXBP1 | c.110T>C (p.Met37Thr) c.152T>C (p.Met51Thr) c.94T>C c.41T>C (p.Met14Thr) | |
9 | g.127653779T>G | CA375176317 | STXBP1 | c.110T>G (p.Met37Arg) c.152T>G (p.Met51Arg) c.94T>G c.41T>G (p.Met14Arg) | |
9 | g.127653780G>A | CA375176319 | STXBP1 | c.111G>A (p.Met37Ile) c.153G>A (p.Met51Ile) c.95G>A c.42G>A (p.Met14Ile) | |
9 | g.127653780G>C | CA375176320 | STXBP1 | c.111G>C (p.Met37Ile) c.153G>C (p.Met51Ile) c.95G>C c.42G>C (p.Met14Ile) | |
9 | g.127653780G>T | CA375176321 | STXBP1 | c.111G>T (p.Met37Ile) c.153G>T (p.Met51Ile) c.95G>T c.42G>T (p.Met14Ile) | gnomAD v4 |
9 | g.127653781A>C | CA375176322 | STXBP1 | c.112A>C (p.Thr38Pro) c.154A>C (p.Thr52Pro) c.96A>C c.43A>C (p.Thr15Pro) | |
9 | g.127653781A>G | CA375176323 | STXBP1 | c.112A>G (p.Thr38Ala) c.154A>G (p.Thr52Ala) c.96A>G c.43A>G (p.Thr15Ala) | |
9 | g.127653781A>T | CA375176324 | STXBP1 | c.112A>T (p.Thr38Ser) c.154A>T (p.Thr52Ser) c.96A>T c.43A>T (p.Thr15Ser) | |
9 | g.127653782C>A | CA375176325 | STXBP1 | c.113C>A (p.Thr38Asn) c.155C>A (p.Thr52Asn) c.97C>A c.44C>A (p.Thr15Asn) | |
9 | g.127653782C>G | CA375176326 | STXBP1 | c.113C>G (p.Thr38Ser) c.155C>G (p.Thr52Ser) c.97C>G c.44C>G (p.Thr15Ser) | |
9 | g.127653782C>T | CA375176327 | STXBP1 | c.113C>T (p.Thr38Ile) c.155C>T (p.Thr52Ile) c.97C>T c.44C>T (p.Thr15Ile) | |
9 | g.127653783C>A | CA467433846 | STXBP1 | c.114C>A (p.Thr38=) c.156C>A (p.Thr52=) c.98C>A c.45C>A (p.Thr15=) | |
9 | g.127653783C= | CA1879900571 | STXBP1 | c.114C= (p.Thr38=) c.156C= (p.Thr52=) c.98C= c.45C= (p.Thr15=) | |
9 | g.127653783C>G | CA467433847 | STXBP1 | c.114C>G (p.Thr38=) c.156C>G (p.Thr52=) c.98C>G c.45C>G (p.Thr15=) | |
9 | g.127653783C>T | CA5248227 | STXBP1 | c.114C>T (p.Thr38=) c.156C>T (p.Thr52=) c.98C>T c.45C>T (p.Thr15=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127653784G>A | CA375176329 | STXBP1 | c.115G>A (p.Glu39Lys) c.157G>A (p.Glu53Lys) c.99G>A c.46G>A (p.Glu16Lys) | |
9 | g.127653784G>C | CA5248228 | STXBP1 | c.115G>C (p.Glu39Gln) c.157G>C (p.Glu53Gln) c.99G>C c.46G>C (p.Glu16Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127653784G= | CA1879900580 | STXBP1 | c.115G= (p.Glu39=) c.157G= (p.Glu53=) c.99G= c.46G= (p.Glu16=) | |
9 | g.127653784G>T | CA375176328 | STXBP1 | c.115G>T (p.Glu39Ter) c.157G>T (p.Glu53Ter) c.99G>T c.46G>T (p.Glu16Ter) | ClinVar dbSNP |
9 | g.127653785A>C | CA375176330 | STXBP1 | c.116A>C (p.Glu39Ala) c.158A>C (p.Glu53Ala) c.100A>C c.47A>C (p.Glu16Ala) | |
9 | g.127653785A>G | CA375176332 | STXBP1 | c.116A>G (p.Glu39Gly) c.158A>G (p.Glu53Gly) c.100A>G c.47A>G (p.Glu16Gly) | |
9 | g.127653785A>T | CA375176331 | STXBP1 | c.116A>T (p.Glu39Val) c.158A>T (p.Glu53Val) c.100A>T c.47A>T (p.Glu16Val) | |
9 | g.127653786G>A | CA467433848 | STXBP1 | c.117G>A (p.Glu39=) c.159G>A (p.Glu53=) c.101G>A c.48G>A (p.Glu16=) | |
9 | g.127653786G>C | CA375176333 | STXBP1 | c.117G>C (p.Glu39Asp) c.159G>C (p.Glu53Asp) c.101G>C c.48G>C (p.Glu16Asp) | |
9 | g.127653786G>T | CA375176334 | STXBP1 | c.117G>T (p.Glu39Asp) c.159G>T (p.Glu53Asp) c.101G>T c.48G>T (p.Glu16Asp) | |
9 | g.127653787G>A | CA375176335 | STXBP1 | c.118G>A (p.Gly40Ser) c.160G>A (p.Gly54Ser) c.102G>A c.49G>A (p.Gly17Ser) | dbSNP |
9 | g.127653787G>C | CA375176336 | STXBP1 | c.118G>C (p.Gly40Arg) c.160G>C (p.Gly54Arg) c.102G>C c.49G>C (p.Gly17Arg) | |
9 | g.127653787G= | CA1879900585 | STXBP1 | c.118G= (p.Gly40=) c.160G= (p.Gly54=) c.102G= c.49G= (p.Gly17=) | |
9 | g.127653787G>T | CA375176337 | STXBP1 | c.118G>T (p.Gly40Cys) c.160G>T (p.Gly54Cys) c.102G>T c.49G>T (p.Gly17Cys) | |
9 | g.127653788G>A | CA375176338 | STXBP1 | c.119G>A (p.Gly40Asp) c.161G>A (p.Gly54Asp) c.103G>A c.50G>A (p.Gly17Asp) |