Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127653716T>A | CA375176170 | STXBP1 | c.47T>A (p.Val16Glu) c.89T>A (p.Val30Glu) c.31T>A c.-23T>A (n.-23T>A) | |
9 | g.127653716T>C | CA375176171 | STXBP1 | c.47T>C (p.Val16Ala) c.89T>C (p.Val30Ala) c.31T>C c.-23T>C (n.-23T>C) | |
9 | g.127653716T>G | CA375176172 | STXBP1 | c.47T>G (p.Val16Gly) c.89T>G (p.Val30Gly) c.31T>G c.-23T>G (n.-23T>G) | |
9 | g.127653717G>A | CA467433811 | STXBP1 | c.48G>A (p.Val16=) c.90G>A (p.Val30=) c.32G>A c.-22G>A (n.-22G>A) | |
9 | g.127653717G>C | CA467433812 | STXBP1 | c.48G>C (p.Val16=) c.90G>C (p.Val30=) c.32G>C c.-22G>C (n.-22G>C) | |
9 | g.127653717G>T | CA467433813 | STXBP1 | c.48G>T (p.Val16=) c.90G>T (p.Val30=) c.32G>T c.-22G>T (n.-22G>T) | |
9 | g.127653718C>A | CA375176173 | STXBP1 | c.49C>A (p.Leu17Met) c.91C>A (p.Leu31Met) c.33C>A c.-21C>A (n.-21C>A) | |
9 | g.127653718C>G | CA375176174 | STXBP1 | c.49C>G (p.Leu17Val) c.91C>G (p.Leu31Val) c.33C>G c.-21C>G (n.-21C>G) | |
9 | g.127653718C>T | CA467433814 | STXBP1 | c.49C>T (p.Leu17=) c.91C>T (p.Leu31=) c.33C>T c.-21C>T (n.-21C>T) | |
9 | g.127653719T>A | CA375176175 | STXBP1 | c.50T>A (p.Leu17Gln) c.92T>A (p.Leu31Gln) c.34T>A c.-20T>A (n.-20T>A) | |
9 | g.127653719T>C | CA375176176 | STXBP1 | c.50T>C (p.Leu17Pro) c.92T>C (p.Leu31Pro) c.34T>C c.-20T>C (n.-20T>C) | |
9 | g.127653719T>G | CA375176177 | STXBP1 | c.50T>G (p.Leu17Arg) c.92T>G (p.Leu31Arg) c.34T>G c.-20T>G (n.-20T>G) | |
9 | g.127653720G>A | CA467433815 | STXBP1 | c.51G>A (p.Leu17=) c.93G>A (p.Leu31=) c.35G>A c.-19G>A (n.-19G>A) | |
9 | g.127653720G>C | CA467433816 | STXBP1 | c.51G>C (p.Leu17=) c.93G>C (p.Leu31=) c.35G>C c.-19G>C (n.-19G>C) | |
9 | g.127653720G>T | CA467433817 | STXBP1 | c.51G>T (p.Leu17=) c.93G>T (p.Leu31=) c.35G>T c.-19G>T (n.-19G>T) | |
9 | g.127653721G>A | CA201185124 | STXBP1 | c.52G>A (p.Val18Met) c.94G>A (p.Val32Met) c.36G>A c.-18G>A (n.-18G>A) | dbSNP gnomAD v4 |
9 | g.127653721G>C | CA375176178 | STXBP1 | c.52G>C (p.Val18Leu) c.94G>C (p.Val32Leu) c.36G>C c.-18G>C (n.-18G>C) | |
9 | g.127653721G= | CA1879900489 | STXBP1 | c.52G= (p.Val18=) c.94G= (p.Val32=) c.36G= c.-18G= (n.-18G=) | |
9 | g.127653721G>T | CA375176179 | STXBP1 | c.52G>T (p.Val18Leu) c.94G>T (p.Val32Leu) c.36G>T c.-18G>T (n.-18G>T) | |
9 | g.127653722T>A | CA375176181 | STXBP1 | c.53T>A (p.Val18Glu) c.95T>A (p.Val32Glu) c.37T>A c.-17T>A (n.-17T>A) | |
9 | g.127653722T>C | CA375176182 | STXBP1 | c.53T>C (p.Val18Ala) c.95T>C (p.Val32Ala) c.37T>C c.-17T>C (n.-17T>C) | |
9 | g.127653722T>G | CA375176180 | STXBP1 | c.53T>G (p.Val18Gly) c.95T>G (p.Val32Gly) c.37T>G c.-17T>G (n.-17T>G) | |
9 | g.127653723G>A | CA467433818 | STXBP1 | c.54G>A (p.Val18=) c.96G>A (p.Val32=) c.38G>A c.-16G>A (n.-16G>A) | gnomAD v4 |
9 | g.127653723G>C | CA467433819 | STXBP1 | c.54G>C (p.Val18=) c.96G>C (p.Val32=) c.38G>C c.-16G>C (n.-16G>C) | |
9 | g.127653723G>T | CA467433820 | STXBP1 | c.54G>T (p.Val18=) c.96G>T (p.Val32=) c.38G>T c.-16G>T (n.-16G>T) | ClinVar |
9 | g.127653724G>A | CA375176183 | STXBP1 | c.55G>A (p.Val19Met) c.97G>A (p.Val33Met) c.39G>A c.-15G>A (n.-15G>A) | |
9 | g.127653724G>C | CA375176184 | STXBP1 | c.55G>C (p.Val19Leu) c.97G>C (p.Val33Leu) c.39G>C c.-15G>C (n.-15G>C) | |
9 | g.127653724G>T | CA375176185 | STXBP1 | c.55G>T (p.Val19Leu) c.97G>T (p.Val33Leu) c.39G>T c.-15G>T (n.-15G>T) | |
9 | g.127653725T>A | CA375176186 | STXBP1 | c.56T>A (p.Val19Glu) c.98T>A (p.Val33Glu) c.40T>A c.-14T>A (n.-14T>A) | ClinVar dbSNP |
9 | g.127653725T>C | CA375176187 | STXBP1 | c.56T>C (p.Val19Ala) c.98T>C (p.Val33Ala) c.40T>C c.-14T>C (n.-14T>C) | |
9 | g.127653725T>G | CA375176188 | STXBP1 | c.56T>G (p.Val19Gly) c.98T>G (p.Val33Gly) c.40T>G c.-14T>G (n.-14T>G) | |
9 | g.127653725T= | CA1879900490 | STXBP1 | c.56T= (p.Val19=) c.98T= (p.Val33=) c.40T= c.-14T= (n.-14T=) | |
9 | g.127653726G>A | CA201185125 | STXBP1 | c.57G>A (p.Val19=) c.99G>A (p.Val33=) c.41G>A c.-13G>A (n.-13G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127653726G>C | CA467433821 | STXBP1 | c.57G>C (p.Val19=) c.99G>C (p.Val33=) c.41G>C c.-13G>C (n.-13G>C) | |
9 | g.127653726G= | CA1879900491 | STXBP1 | c.57G= (p.Val19=) c.99G= (p.Val33=) c.41G= c.-13G= (n.-13G=) | |
9 | g.127653726G>T | CA467433822 | STXBP1 | c.57G>T (p.Val19=) c.99G>T (p.Val33=) c.41G>T c.-13G>T (n.-13G>T) | |
9 | g.127653726_127653727delinsTC | CA2695211174 | STXBP1 | c.57_58delinsTC (p.Asp20His) c.99_100delinsTC (p.Asp34His) c.41_42delinsTC c.-13_-12delinsTC (n.-13_-12delinsTC) | |
9 | g.127653730_127653746del | CA2580079559 | STXBP1 | c.61_77del (p.Gln21AlafsTer23) c.103_119del (p.Gln35AlafsTer23) c.103_119del (p.Gln35AlafsTer?) c.103_119del (p.Gln35AlafsTer25) c.45_61del c.-9_8del | ClinVar |
9 | g.127653727G>A | CA375176189 | STXBP1 | c.58G>A (p.Asp20Asn) c.100G>A (p.Asp34Asn) c.42G>A c.-12G>A (n.-12G>A) | ClinVar |
9 | g.127653727G>C | CA375176190 | STXBP1 | c.58G>C (p.Asp20His) c.100G>C (p.Asp34His) c.42G>C c.-12G>C (n.-12G>C) | |
9 | g.127653727G>T | CA375176191 | STXBP1 | c.58G>T (p.Asp20Tyr) c.100G>T (p.Asp34Tyr) c.42G>T c.-12G>T (n.-12G>T) | gnomAD v4 |
9 | g.127653728A>C | CA375176192 | STXBP1 | c.59A>C (p.Asp20Ala) c.101A>C (p.Asp34Ala) c.43A>C c.-11A>C (n.-11A>C) | |
9 | g.127653728A>G | CA375176193 | STXBP1 | c.59A>G (p.Asp20Gly) c.101A>G (p.Asp34Gly) c.43A>G c.-11A>G (n.-11A>G) | |
9 | g.127653728A>T | CA375176194 | STXBP1 | c.59A>T (p.Asp20Val) c.101A>T (p.Asp34Val) c.43A>T c.-11A>T (n.-11A>T) | |
9 | g.127653729T>A | CA375176196 | STXBP1 | c.60T>A (p.Asp20Glu) c.102T>A (p.Asp34Glu) c.44T>A c.-10T>A (n.-10T>A) | |
9 | g.127653729T>C | CA467433823 | STXBP1 | c.60T>C (p.Asp20=) c.102T>C (p.Asp34=) c.44T>C c.-10T>C (n.-10T>C) | |
9 | g.127653729T>G | CA375176195 | STXBP1 | c.60T>G (p.Asp20Glu) c.102T>G (p.Asp34Glu) c.44T>G c.-10T>G (n.-10T>G) | |
9 | g.127653730C>A | CA375176197 | STXBP1 | c.61C>A (p.Gln21Lys) c.103C>A (p.Gln35Lys) c.45C>A c.-9C>A (n.-9C>A) | |
9 | g.127653730C>G | CA375176198 | STXBP1 | c.61C>G (p.Gln21Glu) c.103C>G (p.Gln35Glu) c.45C>G c.-9C>G (n.-9C>G) | |
9 | g.127653730C>T | CA375176199 | STXBP1 | c.61C>T (p.Gln21Ter) c.103C>T (p.Gln35Ter) c.45C>T c.-9C>T (n.-9C>T) | COSMIC COSMIC |
9 | g.127653731A>C | CA375176200 | STXBP1 | c.62A>C (p.Gln21Pro) c.104A>C (p.Gln35Pro) c.46A>C c.-8A>C (n.-8A>C) | |
9 | g.127653731A>G | CA375176201 | STXBP1 | c.62A>G (p.Gln21Arg) c.104A>G (p.Gln35Arg) c.46A>G c.-8A>G (n.-8A>G) | |
9 | g.127653731A>T | CA375176202 | STXBP1 | c.62A>T (p.Gln21Leu) c.104A>T (p.Gln35Leu) c.46A>T c.-8A>T (n.-8A>T) | |
9 | g.127653732G>A | CA467433824 | STXBP1 | c.63G>A (p.Gln21=) c.105G>A (p.Gln35=) c.47G>A c.-7G>A (n.-7G>A) | |
9 | g.127653732G>C | CA375176203 | STXBP1 | c.63G>C (p.Gln21His) c.105G>C (p.Gln35His) c.47G>C c.-7G>C (n.-7G>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127653732G= | CA1879900492 | STXBP1 | c.63G= (p.Gln21=) c.105G= (p.Gln35=) c.47G= c.-7G= (n.-7G=) | |
9 | g.127653732G>T | CA375176204 | STXBP1 | c.63G>T (p.Gln21His) c.105G>T (p.Gln35His) c.47G>T c.-7G>T (n.-7G>T) | |
9 | g.127653733T>A | CA375176205 | STXBP1 | c.64T>A (p.Leu22Ile) c.106T>A (p.Leu36Ile) c.48T>A c.-6T>A (n.-6T>A) | |
9 | g.127653733T>C | CA5248223 | STXBP1 | c.64T>C (p.Leu22=) c.106T>C (p.Leu36=) c.48T>C c.-6T>C (n.-6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127653733T>G | CA375176206 | STXBP1 | c.64T>G (p.Leu22Val) c.106T>G (p.Leu36Val) c.48T>G c.-6T>G (n.-6T>G) | |
9 | g.127653733T= | CA1879900494 | STXBP1 | c.64T= (p.Leu22=) c.106T= (p.Leu36=) c.48T= c.-6T= (n.-6T=) | |
9 | g.127653734T>A | CA375176207 | STXBP1 | c.65T>A (p.Leu22Ter) c.107T>A (p.Leu36Ter) c.49T>A c.-5T>A (n.-5T>A) | ClinVar |
9 | g.127653734T>C | CA375176208 | STXBP1 | c.65T>C (p.Leu22Ser) c.107T>C (p.Leu36Ser) c.49T>C c.-5T>C (n.-5T>C) | |
9 | g.127653734T>G | CA375176209 | STXBP1 | c.65T>G (p.Leu22Ter) c.107T>G (p.Leu36Ter) c.49T>G c.-5T>G (n.-5T>G) | ClinVar dbSNP |
9 | g.127653734T= | CA1879900495 | STXBP1 | c.65T= (p.Leu22=) c.107T= (p.Leu36=) c.49T= c.-5T= (n.-5T=) | |
9 | g.127653735A>C | CA375176210 | STXBP1 | c.66A>C (p.Leu22Phe) c.108A>C (p.Leu36Phe) c.50A>C c.-4A>C (n.-4A>C) | |
9 | g.127653735A>G | CA467433825 | STXBP1 | c.66A>G (p.Leu22=) c.108A>G (p.Leu36=) c.50A>G c.-4A>G (n.-4A>G) | |
9 | g.127653735A>T | CA375176211 | STXBP1 | c.66A>T (p.Leu22Phe) c.108A>T (p.Leu36Phe) c.50A>T c.-4A>T (n.-4A>T) | |
9 | g.127653736A>C | CA375176212 | STXBP1 | c.67A>C (p.Ser23Arg) c.109A>C (p.Ser37Arg) c.51A>C c.-3A>C (n.-3A>C) | |
9 | g.127653736A>G | CA375176213 | STXBP1 | c.67A>G (p.Ser23Gly) c.109A>G (p.Ser37Gly) c.51A>G c.-3A>G (n.-3A>G) | |
9 | g.127653736A>T | CA375176214 | STXBP1 | c.67A>T (p.Ser23Cys) c.109A>T (p.Ser37Cys) c.51A>T c.-3A>T (n.-3A>T) | COSMIC COSMIC |
9 | g.127653737G>A | CA375176215 | STXBP1 | c.68G>A (p.Ser23Asn) c.110G>A (p.Ser37Asn) c.52G>A c.-2G>A (n.-2G>A) | |
9 | g.127653737G>C | CA375176216 | STXBP1 | c.68G>C (p.Ser23Thr) c.110G>C (p.Ser37Thr) c.52G>C c.-2G>C (n.-2G>C) | |
9 | g.127653737G>T | CA375176217 | STXBP1 | c.68G>T (p.Ser23Ile) c.110G>T (p.Ser37Ile) c.52G>T c.-2G>T (n.-2G>T) | |
9 | g.127653738C>A | CA375176219 | STXBP1 | c.69C>A (p.Ser23Arg) c.111C>A (p.Ser37Arg) c.53C>A c.-1C>A (n.-1C>A) | |
9 | g.127653738C>G | CA375176218 | STXBP1 | c.69C>G (p.Ser23Arg) c.111C>G (p.Ser37Arg) c.53C>G c.-1C>G (n.-1C>G) | |
9 | g.127653738C>T | CA467433826 | STXBP1 | c.69C>T (p.Ser23=) c.111C>T (p.Ser37=) c.53C>T c.-1C>T (n.-1C>T) | |
9 | g.127653739A>C | CA375176220 | STXBP1 | c.70A>C (p.Met24Leu) c.112A>C (p.Met38Leu) c.54A>C c.1A>C (p.Met1Leu) | |
9 | g.127653739A>G | CA375176221 | STXBP1 | c.70A>G (p.Met24Val) c.112A>G (p.Met38Val) c.54A>G c.1A>G (p.Met1Val) | |
9 | g.127653739A>T | CA375176222 | STXBP1 | c.70A>T (p.Met24Leu) c.112A>T (p.Met38Leu) c.54A>T c.1A>T (p.Met1Leu) | |
9 | g.127653740T>A | CA375176223 | STXBP1 | c.71T>A (p.Met24Lys) c.113T>A (p.Met38Lys) c.55T>A c.2T>A (p.Met1Lys) | |
9 | g.127653740T>C | CA201185127 | STXBP1 | c.71T>C (p.Met24Thr) c.113T>C (p.Met38Thr) c.55T>C c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.127653740T>G | CA375176224 | STXBP1 | c.71T>G (p.Met24Arg) c.113T>G (p.Met38Arg) c.55T>G c.2T>G (p.Met1Arg) | |
9 | g.127653740T= | CA1879900496 | STXBP1 | c.71T= (p.Met24=) c.113T= (p.Met38=) c.55T= c.2T= (p.Met1=) | |
9 | g.127653741G>A | CA375176227 | STXBP1 | c.72G>A (p.Met24Ile) c.114G>A (p.Met38Ile) c.56G>A c.3G>A (p.Met1Ile) | |
9 | g.127653741G>C | CA375176225 | STXBP1 | c.72G>C (p.Met24Ile) c.114G>C (p.Met38Ile) c.56G>C c.3G>C (p.Met1Ile) | |
9 | g.127653741G>T | CA375176226 | STXBP1 | c.72G>T (p.Met24Ile) c.114G>T (p.Met38Ile) c.56G>T c.3G>T (p.Met1Ile) | |
9 | g.127653743_127653745dup | CA915947148 | STXBP1 | c.74_76dup (p.Arg25_Met26insArg) c.116_118dup (p.Arg39_Met40insArg) c.58_60dup c.5_7dup (p.Arg2_Met3insArg) | ClinVar dbSNP |
9 | g.127653742A>C | CA467433827 | STXBP1 | c.73A>C (p.Arg25=) c.115A>C (p.Arg39=) c.57A>C c.4A>C (p.Arg2=) | |
9 | g.127653742A>G | CA375176228 | STXBP1 | c.73A>G (p.Arg25Gly) c.115A>G (p.Arg39Gly) c.57A>G c.4A>G (p.Arg2Gly) | |
9 | g.127653742A>T | CA375176229 | STXBP1 | c.73A>T (p.Arg25Trp) c.115A>T (p.Arg39Trp) c.57A>T c.4A>T (p.Arg2Trp) | |
9 | g.127653743G>A | CA375176230 | STXBP1 | c.74G>A (p.Arg25Lys) c.116G>A (p.Arg39Lys) c.58G>A c.5G>A (p.Arg2Lys) | dbSNP |
9 | g.127653743G>C | CA375176231 | STXBP1 | c.74G>C (p.Arg25Thr) c.116G>C (p.Arg39Thr) c.58G>C c.5G>C (p.Arg2Thr) | |
9 | g.127653743G>T | CA375176232 | STXBP1 | c.74G>T (p.Arg25Met) c.116G>T (p.Arg39Met) c.58G>T c.5G>T (p.Arg2Met) | |
9 | g.127653744G>A | CA467433828 | STXBP1 | c.75G>A (p.Arg25=) c.117G>A (p.Arg39=) c.59G>A c.6G>A (p.Arg2=) | |
9 | g.127653744G>C | CA375176233 | STXBP1 | c.75G>C (p.Arg25Ser) c.117G>C (p.Arg39Ser) c.59G>C c.6G>C (p.Arg2Ser) | |
9 | g.127653744G>T | CA375176234 | STXBP1 | c.75G>T (p.Arg25Ser) c.117G>T (p.Arg39Ser) c.59G>T c.6G>T (p.Arg2Ser) | ClinVar dbSNP |
9 | g.127653745A= | CA1879900499 | STXBP1 | c.76A= (p.Met26=) c.118A= (p.Met40=) c.60A= c.7A= (p.Met3=) | |
9 | g.127653745A>C | CA375176235 | STXBP1 | c.76A>C (p.Met26Leu) c.118A>C (p.Met40Leu) c.60A>C c.7A>C (p.Met3Leu) | |
9 | g.127653745A>G | CA375176236 | STXBP1 | c.76A>G (p.Met26Val) c.118A>G (p.Met40Val) c.60A>G c.7A>G (p.Met3Val) | |
9 | g.127653745A>T | CA375176237 | STXBP1 | c.76A>T (p.Met26Leu) c.118A>T (p.Met40Leu) c.60A>T c.7A>T (p.Met3Leu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127653746T>A | CA375176238 | STXBP1 | c.77T>A (p.Met26Lys) c.119T>A (p.Met40Lys) c.61T>A c.8T>A (p.Met3Lys) | ClinVar dbSNP |
9 | g.127653746T>C | CA375176239 | STXBP1 | c.77T>C (p.Met26Thr) c.119T>C (p.Met40Thr) c.61T>C c.8T>C (p.Met3Thr) | |
9 | g.127653746T>G | CA375176240 | STXBP1 | c.77T>G (p.Met26Arg) c.119T>G (p.Met40Arg) c.61T>G c.8T>G (p.Met3Arg) | |
9 | g.127653746T= | CA1879900500 | STXBP1 | c.77T= (p.Met26=) c.119T= (p.Met40=) c.61T= c.8T= (p.Met3=) | |
9 | g.127653747G>A | CA375176241 | STXBP1 | c.78G>A (p.Met26Ile) c.120G>A (p.Met40Ile) c.62G>A c.9G>A (p.Met3Ile) | |
9 | g.127653747G>C | CA375176243 | STXBP1 | c.78G>C (p.Met26Ile) c.120G>C (p.Met40Ile) c.62G>C c.9G>C (p.Met3Ile) | |
9 | g.127653747G>T | CA375176242 | STXBP1 | c.78G>T (p.Met26Ile) c.120G>T (p.Met40Ile) c.62G>T c.9G>T (p.Met3Ile) | |
9 | g.127653748C>A | CA375176244 | STXBP1 | c.79C>A (p.Leu27Met) c.121C>A (p.Leu41Met) c.63C>A c.10C>A (p.Leu4Met) | |
9 | g.127653748C>G | CA375176245 | STXBP1 | c.79C>G (p.Leu27Val) c.121C>G (p.Leu41Val) c.63C>G c.10C>G (p.Leu4Val) | |
9 | g.127653748C>T | CA467433829 | STXBP1 | c.79C>T (p.Leu27=) c.121C>T (p.Leu41=) c.63C>T c.10C>T (p.Leu4=) | |
9 | g.127653749T>A | CA375176246 | STXBP1 | c.80T>A (p.Leu27Gln) c.122T>A (p.Leu41Gln) c.64T>A c.11T>A (p.Leu4Gln) | ClinVar |
9 | g.127653749T>C | CA375176247 | STXBP1 | c.80T>C (p.Leu27Pro) c.122T>C (p.Leu41Pro) c.64T>C c.11T>C (p.Leu4Pro) | |
9 | g.127653749T>G | CA375176248 | STXBP1 | c.80T>G (p.Leu27Arg) c.122T>G (p.Leu41Arg) c.64T>G c.11T>G (p.Leu4Arg) | ClinVar dbSNP |
9 | g.127653750G>A | CA467433830 | STXBP1 | c.81G>A (p.Leu27=) c.123G>A (p.Leu41=) c.65G>A c.12G>A (p.Leu4=) | ClinVar dbSNP |
9 | g.127653750G>C | CA201185129 | STXBP1 | c.81G>C (p.Leu27=) c.123G>C (p.Leu41=) c.65G>C c.12G>C (p.Leu4=) | ClinVar dbSNP gnomAD v4 |
9 | g.127653750G= | CA1879900501 | STXBP1 | c.81G= (p.Leu27=) c.123G= (p.Leu41=) c.65G= c.12G= (p.Leu4=) | |
9 | g.127653750G>T | CA467433831 | STXBP1 | c.81G>T (p.Leu27=) c.123G>T (p.Leu41=) c.65G>T c.12G>T (p.Leu4=) | |
9 | g.127653750_127653751delinsGT | CA1879900502 | STXBP1 | c.81_82delinsGT (p.Leu27=) c.123_124delinsGT (p.Leu41=) c.65_66delinsGT c.12_13delinsGT (p.Leu4=) | |
9 | g.127653750_127653753delinsGTCC | CA1879900503 | STXBP1 | c.81_84delinsGTCC (p.Leu27=) c.123_126delinsGTCC (p.Leu41=) c.65_68delinsGTCC c.12_15delinsGTCC (p.Leu4=) | |
9 | g.127653751del | CA318904 | STXBP1 | c.82del (p.Ser28ProfsTer6) c.124del (p.Ser42ProfsTer6) c.66del c.13del (p.Ser5ProfsTer6) | ClinVar dbSNP |
9 | g.127653751T>A | CA375176249 | STXBP1 | c.82T>A (p.Ser28Thr) c.124T>A (p.Ser42Thr) c.66T>A c.13T>A (p.Ser5Thr) | |
9 | g.127653751T>C | CA10603014 | STXBP1 | c.82T>C (p.Ser28Pro) c.124T>C (p.Ser42Pro) c.66T>C c.13T>C (p.Ser5Pro) | ClinVar dbSNP |
9 | g.127653751T>G | CA375176250 | STXBP1 | c.82T>G (p.Ser28Ala) c.124T>G (p.Ser42Ala) c.66T>G c.13T>G (p.Ser5Ala) | |
9 | g.127653751T= | CA1879900508 | STXBP1 | c.82T= (p.Ser28=) c.124T= (p.Ser42=) c.66T= c.13T= (p.Ser5=) | |
9 | g.127653755_127653757del | CA318905 | STXBP1 | c.86_88del (p.Ser29del) c.128_130del (p.Ser43del) c.70_72del c.17_19del (p.Ser6del) | ClinVar dbSNP |
9 | g.127653752C>A | CA375176251 | STXBP1 | c.83C>A (p.Ser28Tyr) c.125C>A (p.Ser42Tyr) c.67C>A c.14C>A (p.Ser5Tyr) | ClinVar dbSNP |
9 | g.127653752C= | CA1879900515 | STXBP1 | c.83C= (p.Ser28=) c.125C= (p.Ser42=) c.67C= c.14C= (p.Ser5=) | |
9 | g.127653752C>G | CA375176252 | STXBP1 | c.83C>G (p.Ser28Cys) c.125C>G (p.Ser42Cys) c.67C>G c.14C>G (p.Ser5Cys) | |
9 | g.127653752C>T | CA375176253 | STXBP1 | c.83C>T (p.Ser28Phe) c.125C>T (p.Ser42Phe) c.67C>T c.14C>T (p.Ser5Phe) | |
9 | g.127653753C>A | CA467433832 | STXBP1 | c.84C>A (p.Ser28=) c.126C>A (p.Ser42=) c.68C>A c.15C>A (p.Ser5=) | |
9 | g.127653753C>G | CA467433833 | STXBP1 | c.84C>G (p.Ser28=) c.126C>G (p.Ser42=) c.68C>G c.15C>G (p.Ser5=) | |
9 | g.127653753C>T | CA467433834 | STXBP1 | c.84C>T (p.Ser28=) c.126C>T (p.Ser42=) c.68C>T c.15C>T (p.Ser5=) | |
9 | g.127653754T>A | CA375176256 | STXBP1 | c.85T>A (p.Ser29Thr) c.127T>A (p.Ser43Thr) c.69T>A c.16T>A (p.Ser6Thr) | |
9 | g.127653754T>C | CA375176254 | STXBP1 | c.85T>C (p.Ser29Pro) c.127T>C (p.Ser43Pro) c.69T>C c.16T>C (p.Ser6Pro) | |
9 | g.127653754T>G | CA375176255 | STXBP1 | c.85T>G (p.Ser29Ala) c.127T>G (p.Ser43Ala) c.69T>G c.16T>G (p.Ser6Ala) | gnomAD v4 |
9 | g.127653755C>A | CA375176257 | STXBP1 | c.86C>A (p.Ser29Tyr) c.128C>A (p.Ser43Tyr) c.70C>A c.17C>A (p.Ser6Tyr) | |
9 | g.127653755C>G | CA375176258 | STXBP1 | c.86C>G (p.Ser29Cys) c.128C>G (p.Ser43Cys) c.70C>G c.17C>G (p.Ser6Cys) | |
9 | g.127653755C>T | CA375176259 | STXBP1 | c.86C>T (p.Ser29Phe) c.128C>T (p.Ser43Phe) c.70C>T c.17C>T (p.Ser6Phe) | COSMIC COSMIC |
9 | g.127653756C>A | CA467433835 | STXBP1 | c.87C>A (p.Ser29=) c.129C>A (p.Ser43=) c.71C>A c.18C>A (p.Ser6=) | |
9 | g.127653756C= | CA1879900519 | STXBP1 | c.87C= (p.Ser29=) c.129C= (p.Ser43=) c.71C= c.18C= (p.Ser6=) | |
9 | g.127653756C>G | CA5248224 | STXBP1 | c.87C>G (p.Ser29=) c.129C>G (p.Ser43=) c.71C>G c.18C>G (p.Ser6=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127653756C>T | CA467433836 | STXBP1 | c.87C>T (p.Ser29=) c.129C>T (p.Ser43=) c.71C>T c.18C>T (p.Ser6=) | |
9 | g.127653760_127653762del | CA2580616303 | STXBP1 | c.91_93del (p.Cys31del) c.133_135del (p.Cys45del) c.75_77del c.22_24del (p.Cys8del) | ClinVar dbSNP |
9 | g.127653757T>A | CA375176260 | STXBP1 | c.88T>A (p.Cys30Ser) c.130T>A (p.Cys44Ser) c.72T>A c.19T>A (p.Cys7Ser) | |
9 | g.127653757T>C | CA375176261 | STXBP1 | c.88T>C (p.Cys30Arg) c.130T>C (p.Cys44Arg) c.72T>C c.19T>C (p.Cys7Arg) | |
9 | g.127653757T>G | CA375176262 | STXBP1 | c.88T>G (p.Cys30Gly) c.130T>G (p.Cys44Gly) c.72T>G c.19T>G (p.Cys7Gly) | |
9 | g.127653758G>A | CA375176263 | STXBP1 | c.89G>A (p.Cys30Tyr) c.131G>A (p.Cys44Tyr) c.73G>A c.20G>A (p.Cys7Tyr) | |
9 | g.127653758G>C | CA375176264 | STXBP1 | c.89G>C (p.Cys30Ser) c.131G>C (p.Cys44Ser) c.73G>C c.20G>C (p.Cys7Ser) | |
9 | g.127653758G>T | CA375176265 | STXBP1 | c.89G>T (p.Cys30Phe) c.131G>T (p.Cys44Phe) c.73G>T c.20G>T (p.Cys7Phe) | |
9 | g.127653759C>A | CA375176266 | STXBP1 | c.90C>A (p.Cys30Ter) c.132C>A (p.Cys44Ter) c.74C>A c.21C>A (p.Cys7Ter) | |
9 | g.127653759C= | CA1879900523 | STXBP1 | c.90C= (p.Cys30=) c.132C= (p.Cys44=) c.74C= c.21C= (p.Cys7=) | |
9 | g.127653759C>G | CA375176267 | STXBP1 | c.90C>G (p.Cys30Trp) c.132C>G (p.Cys44Trp) c.74C>G c.21C>G (p.Cys7Trp) | |
9 | g.127653759C>T | CA5248225 | STXBP1 | c.90C>T (p.Cys30=) c.132C>T (p.Cys44=) c.74C>T c.21C>T (p.Cys7=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.127653760T>A | CA375176268 | STXBP1 | c.91T>A (p.Cys31Ser) c.133T>A (p.Cys45Ser) c.75T>A c.22T>A (p.Cys8Ser) | |
9 | g.127653760T>C | CA375176270 | STXBP1 | c.91T>C (p.Cys31Arg) c.133T>C (p.Cys45Arg) c.75T>C c.22T>C (p.Cys8Arg) | |
9 | g.127653760T>G | CA375176269 | STXBP1 | c.91T>G (p.Cys31Gly) c.133T>G (p.Cys45Gly) c.75T>G c.22T>G (p.Cys8Gly) | |
9 | g.127653761G>A | CA375176271 | STXBP1 | c.92G>A (p.Cys31Tyr) c.134G>A (p.Cys45Tyr) c.76G>A c.23G>A (p.Cys8Tyr) | |
9 | g.127653761G>C | CA375176273 | STXBP1 | c.92G>C (p.Cys31Ser) c.134G>C (p.Cys45Ser) c.76G>C c.23G>C (p.Cys8Ser) | |
9 | g.127653761G= | CA1879900527 | STXBP1 | c.92G= (p.Cys31=) c.134G= (p.Cys45=) c.76G= c.23G= (p.Cys8=) | |
9 | g.127653761G>T | CA375176272 | STXBP1 | c.92G>T (p.Cys31Phe) c.134G>T (p.Cys45Phe) c.76G>T c.23G>T (p.Cys8Phe) | ClinVar dbSNP gnomAD v4 |
9 | g.127653762C>A | CA375176274 | STXBP1 | c.93C>A (p.Cys31Ter) c.135C>A (p.Cys45Ter) c.77C>A c.24C>A (p.Cys8Ter) | |
9 | g.127653762C= | CA1879900530 | STXBP1 | c.93C= (p.Cys31=) c.135C= (p.Cys45=) c.77C= c.24C= (p.Cys8=) | |
9 | g.127653762C>G | CA375176275 | STXBP1 | c.93C>G (p.Cys31Trp) c.135C>G (p.Cys45Trp) c.77C>G c.24C>G (p.Cys8Trp) | |
9 | g.127653762C>T | CA467433837 | STXBP1 | c.93C>T (p.Cys31=) c.135C>T (p.Cys45=) c.77C>T c.24C>T (p.Cys8=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127653763A= | CA1879900536 | STXBP1 | c.94A= (p.Lys32=) c.136A= (p.Lys46=) c.78A= c.25A= (p.Lys9=) | |
9 | g.127653763A>C | CA375176276 | STXBP1 | c.94A>C (p.Lys32Gln) c.136A>C (p.Lys46Gln) c.78A>C c.25A>C (p.Lys9Gln) | |
9 | g.127653763A>G | CA375176277 | STXBP1 | c.94A>G (p.Lys32Glu) c.136A>G (p.Lys46Glu) c.78A>G c.25A>G (p.Lys9Glu) | ClinVar dbSNP |
9 | g.127653763A>T | CA375176278 | STXBP1 | c.94A>T (p.Lys32Ter) c.136A>T (p.Lys46Ter) c.78A>T c.25A>T (p.Lys9Ter) | |
9 | g.127653764A>C | CA375176279 | STXBP1 | c.95A>C (p.Lys32Thr) c.137A>C (p.Lys46Thr) c.79A>C c.26A>C (p.Lys9Thr) | |
9 | g.127653764A>G | CA375176280 | STXBP1 | c.95A>G (p.Lys32Arg) c.137A>G (p.Lys46Arg) c.79A>G c.26A>G (p.Lys9Arg) | COSMIC COSMIC |
9 | g.127653764A>T | CA375176281 | STXBP1 | c.95A>T (p.Lys32Met) c.137A>T (p.Lys46Met) c.79A>T c.26A>T (p.Lys9Met) | |
9 | g.127653765G>A | CA467433838 | STXBP1 | c.96G>A (p.Lys32=) c.138G>A (p.Lys46=) c.80G>A c.27G>A (p.Lys9=) | |
9 | g.127653765G>C | CA375176282 | STXBP1 | c.96G>C (p.Lys32Asn) c.138G>C (p.Lys46Asn) c.80G>C c.27G>C (p.Lys9Asn) | |
9 | g.127653765G>T | CA375176283 | STXBP1 | c.96G>T (p.Lys32Asn) c.138G>T (p.Lys46Asn) c.80G>T c.27G>T (p.Lys9Asn) | |
9 | g.127653766A>C | CA375176284 | STXBP1 | c.97A>C (p.Met33Leu) c.139A>C (p.Met47Leu) c.81A>C c.28A>C (p.Met10Leu) | |
9 | g.127653766A>G | CA375176285 | STXBP1 | c.97A>G (p.Met33Val) c.139A>G (p.Met47Val) c.81A>G c.28A>G (p.Met10Val) | |
9 | g.127653766A>T | CA375176286 | STXBP1 | c.97A>T (p.Met33Leu) c.139A>T (p.Met47Leu) c.81A>T c.28A>T (p.Met10Leu) | |
9 | g.127653767T>A | CA375176289 | STXBP1 | c.98T>A (p.Met33Lys) c.140T>A (p.Met47Lys) c.82T>A c.29T>A (p.Met10Lys) | |
9 | g.127653767T>C | CA375176287 | STXBP1 | c.98T>C (p.Met33Thr) c.140T>C (p.Met47Thr) c.82T>C c.29T>C (p.Met10Thr) | |
9 | g.127653767T>G | CA375176288 | STXBP1 | c.98T>G (p.Met33Arg) c.140T>G (p.Met47Arg) c.82T>G c.29T>G (p.Met10Arg) | |
9 | g.127653768G>A | CA375176290 | STXBP1 | c.99G>A (p.Met33Ile) c.141G>A (p.Met47Ile) c.83G>A c.30G>A (p.Met10Ile) | |
9 | g.127653768G>C | CA375176291 | STXBP1 | c.99G>C (p.Met33Ile) c.141G>C (p.Met47Ile) c.83G>C c.30G>C (p.Met10Ile) | |
9 | g.127653768G>T | CA375176292 | STXBP1 | c.99G>T (p.Met33Ile) c.141G>T (p.Met47Ile) c.83G>T c.30G>T (p.Met10Ile) | |
9 | g.127653772_127653775del | CA2580616304 | STXBP1 | c.103_106del (p.Asp35SerfsTer2) c.145_148del (p.Asp49SerfsTer2) c.87_90del c.34_37del (p.Asp12SerfsTer2) | ClinVar dbSNP |
9 | g.127653769A>C | CA375176293 | STXBP1 | c.100A>C (p.Thr34Pro) c.142A>C (p.Thr48Pro) c.84A>C c.31A>C (p.Thr11Pro) | |
9 | g.127653769A>G | CA375176294 | STXBP1 | c.100A>G (p.Thr34Ala) c.142A>G (p.Thr48Ala) c.84A>G c.31A>G (p.Thr11Ala) | |
9 | g.127653769A>T | CA375176295 | STXBP1 | c.100A>T (p.Thr34Ser) c.142A>T (p.Thr48Ser) c.84A>T c.31A>T (p.Thr11Ser) | |
9 | g.127653770C>A | CA375176296 | STXBP1 | c.101C>A (p.Thr34Lys) c.143C>A (p.Thr48Lys) c.85C>A c.32C>A (p.Thr11Lys) | |
9 | g.127653770C>G | CA375176297 | STXBP1 | c.101C>G (p.Thr34Arg) c.143C>G (p.Thr48Arg) c.85C>G c.32C>G (p.Thr11Arg) | |
9 | g.127653770C>T | CA375176298 | STXBP1 | c.101C>T (p.Thr34Ile) c.143C>T (p.Thr48Ile) c.85C>T c.32C>T (p.Thr11Ile) | |
9 | g.127653771A= | CA1879900543 | STXBP1 | c.102A= (p.Thr34=) c.144A= (p.Thr48=) c.86A= c.33A= (p.Thr11=) | |
9 | g.127653771A>C | CA467433839 | STXBP1 | c.102A>C (p.Thr34=) c.144A>C (p.Thr48=) c.86A>C c.33A>C (p.Thr11=) | ClinVar dbSNP gnomAD v4 |
9 | g.127653771A>G | CA467433841 | STXBP1 | c.102A>G (p.Thr34=) c.144A>G (p.Thr48=) c.86A>G c.33A>G (p.Thr11=) | |
9 | g.127653771A>T | CA467433840 | STXBP1 | c.102A>T (p.Thr34=) c.144A>T (p.Thr48=) c.86A>T c.33A>T (p.Thr11=) | |
9 | g.127653772G>A | CA375176299 | STXBP1 | c.103G>A (p.Asp35Asn) c.145G>A (p.Asp49Asn) c.87G>A c.34G>A (p.Asp12Asn) | |
9 | g.127653772G>C | CA375176300 | STXBP1 | c.103G>C (p.Asp35His) c.145G>C (p.Asp49His) c.87G>C c.34G>C (p.Asp12His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127653772G= | CA1879900548 | STXBP1 | c.103G= (p.Asp35=) c.145G= (p.Asp49=) c.87G= c.34G= (p.Asp12=) | |
9 | g.127653772G>T | CA375176301 | STXBP1 | c.103G>T (p.Asp35Tyr) c.145G>T (p.Asp49Tyr) c.87G>T c.34G>T (p.Asp12Tyr) | |
9 | g.127653773A= | CA1879900550 | STXBP1 | c.104A= (p.Asp35=) c.146A= (p.Asp49=) c.88A= c.35A= (p.Asp12=) | |
9 | g.127653773A>C | CA375176302 | STXBP1 | c.104A>C (p.Asp35Ala) c.146A>C (p.Asp49Ala) c.88A>C c.35A>C (p.Asp12Ala) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127653773A>G | CA375176304 | STXBP1 | c.104A>G (p.Asp35Gly) c.146A>G (p.Asp49Gly) c.88A>G c.35A>G (p.Asp12Gly) | |
9 | g.127653773A>T | CA375176303 | STXBP1 | c.104A>T (p.Asp35Val) c.146A>T (p.Asp49Val) c.88A>T c.35A>T (p.Asp12Val) | |
9 | g.127653774C>A | CA375176305 | STXBP1 | c.105C>A (p.Asp35Glu) c.147C>A (p.Asp49Glu) c.89C>A c.36C>A (p.Asp12Glu) | |
9 | g.127653774C= | CA1879900552 | STXBP1 | c.105C= (p.Asp35=) c.147C= (p.Asp49=) c.89C= c.36C= (p.Asp12=) | |
9 | g.127653774C>G | CA375176306 | STXBP1 | c.105C>G (p.Asp35Glu) c.147C>G (p.Asp49Glu) c.89C>G c.36C>G (p.Asp12Glu) | |
9 | g.127653774C>T | CA467433842 | STXBP1 | c.105C>T (p.Asp35=) c.147C>T (p.Asp49=) c.89C>T c.36C>T (p.Asp12=) | ClinVar 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) | |
9 | g.127653788G>C | CA375176339 | STXBP1 | c.119G>C (p.Gly40Ala) c.161G>C (p.Gly54Ala) c.103G>C c.50G>C (p.Gly17Ala) | |
9 | g.127653788G>T | CA375176340 | STXBP1 | c.119G>T (p.Gly40Val) c.161G>T (p.Gly54Val) c.103G>T c.50G>T (p.Gly17Val) | |
9 | g.127653789C>A | CA467433849 | STXBP1 | c.120C>A (p.Gly40=) c.162C>A (p.Gly54=) c.104C>A c.51C>A (p.Gly17=) | |
9 | g.127653789C>G | CA467433850 | STXBP1 | c.120C>G (p.Gly40=) c.162C>G (p.Gly54=) c.104C>G c.51C>G (p.Gly17=) | |
9 | g.127653789C>T | CA467433851 | STXBP1 | c.120C>T (p.Gly40=) c.162C>T (p.Gly54=) c.104C>T c.51C>T (p.Gly17=) | |
9 | g.127653790A>C | CA375176341 | STXBP1 | c.121A>C (p.Ile41Leu) c.163A>C (p.Ile55Leu) c.105A>C c.52A>C (p.Ile18Leu) | |
9 | g.127653790A>G | CA375176342 | STXBP1 | c.121A>G (p.Ile41Val) c.163A>G (p.Ile55Val) c.105A>G c.52A>G (p.Ile18Val) | |
9 | g.127653790A>T | CA375176343 | STXBP1 | c.121A>T (p.Ile41Leu) c.163A>T (p.Ile55Leu) c.105A>T c.52A>T (p.Ile18Leu) | |
9 | g.127653791T>A | CA375176346 | STXBP1 | c.122T>A (p.Ile41Lys) c.164T>A (p.Ile55Lys) c.106T>A c.53T>A (p.Ile18Lys) | |
9 | g.127653791T>C | CA375176344 | STXBP1 | c.122T>C (p.Ile41Thr) c.164T>C (p.Ile55Thr) c.106T>C c.53T>C (p.Ile18Thr) | ClinVar dbSNP |
9 | g.127653791T>G | CA375176345 | STXBP1 | c.122T>G (p.Ile41Arg) c.164T>G (p.Ile55Arg) c.106T>G c.53T>G (p.Ile18Arg) | |
9 | g.127653792A>C | CA467433853 | STXBP1 | c.123A>C (p.Ile41=) c.165A>C (p.Ile55=) c.107A>C c.54A>C (p.Ile18=) | |
9 | g.127653792A>G | CA375176347 | STXBP1 | c.123A>G (p.Ile41Met) c.165A>G (p.Ile55Met) c.107A>G c.54A>G (p.Ile18Met) | |
9 | g.127653792A>T | CA467433852 | STXBP1 | c.123A>T (p.Ile41=) c.165A>T (p.Ile55=) c.107A>T c.54A>T (p.Ile18=) | |
9 | g.127653793A>C | CA375176348 | STXBP1 | c.124A>C (p.Thr42Pro) c.166A>C (p.Thr56Pro) c.108A>C c.55A>C (p.Thr19Pro) | |
9 | g.127653793A>G | CA375176349 | STXBP1 | c.124A>G (p.Thr42Ala) c.166A>G (p.Thr56Ala) c.108A>G c.55A>G (p.Thr19Ala) | |
9 | g.127653793A>T | CA375176350 | STXBP1 | c.124A>T (p.Thr42Ser) c.166A>T (p.Thr56Ser) c.108A>T c.55A>T (p.Thr19Ser) | COSMIC COSMIC |
9 | g.127653794C>A | CA375176351 | STXBP1 | c.125C>A (p.Thr42Lys) c.167C>A (p.Thr56Lys) c.109C>A c.56C>A (p.Thr19Lys) | |
9 | g.127653794C= | CA1879900589 | STXBP1 | c.125C= (p.Thr42=) c.167C= (p.Thr56=) c.109C= c.56C= (p.Thr19=) | |
9 | g.127653794C>G | CA318913 | STXBP1 | c.125C>G (p.Thr42Arg) c.167C>G (p.Thr56Arg) c.109C>G c.56C>G (p.Thr19Arg) | ClinVar dbSNP |
9 | g.127653794C>T | CA375176352 | STXBP1 | c.125C>T (p.Thr42Met) c.167C>T (p.Thr56Met) c.109C>T c.56C>T (p.Thr19Met) | gnomAD v4 COSMIC COSMIC |
9 | g.127653795G>A | CA467433854 | STXBP1 | c.126G>A (p.Thr42=) c.168G>A (p.Thr56=) c.110G>A c.57G>A (p.Thr19=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.127653795G>C | CA467433855 | STXBP1 | c.126G>C (p.Thr42=) c.168G>C (p.Thr56=) c.110G>C c.57G>C (p.Thr19=) | |
9 | g.127653795G= | CA1879900596 | STXBP1 | c.126G= (p.Thr42=) c.168G= (p.Thr56=) c.110G= c.57G= (p.Thr19=) | |
9 | g.127653795G>T | CA467433856 | STXBP1 | c.126G>T (p.Thr42=) c.168G>T (p.Thr56=) c.110G>T c.57G>T (p.Thr19=) | gnomAD v4 |
9 | g.127653796A>C | CA375176353 | STXBP1 | c.127A>C (p.Ile43Leu) c.169A>C (p.Ile57Leu) c.169A>C (p.Arg57=) c.169A>C (p.Asn57His) c.111A>C c.58A>C (p.Ile20Leu) | |
9 | g.127653796A>G | CA375176354 | STXBP1 | c.127A>G (p.Ile43Val) c.169A>G (p.Ile57Val) c.169A>G (p.Arg57Gly) c.169A>G (p.Asn57Asp) c.111A>G c.58A>G (p.Ile20Val) | |
9 | g.127653796A>T | CA375176355 | STXBP1 | c.127A>T (p.Ile43Phe) c.169A>T (p.Ile57Phe) c.169A>T (p.Arg57Ter) c.169A>T (p.Asn57Tyr) c.111A>T c.58A>T (p.Ile20Phe) | |
9 | g.127653797G>A | CA118458 | STXBP1 | c.127+1G>A (n.127+1G>A) c.169+1G>A (n.169+1G>A) c.111+1G>A c.58+1G>A (n.58+1G>A) | ClinVar dbSNP |
9 | g.127653797G>C | CA375176357 | STXBP1 | c.127+1G>C (n.127+1G>C) c.169+1G>C (n.169+1G>C) c.111+1G>C c.58+1G>C (n.58+1G>C) | |
9 | g.127653797G= | CA1879900600 | STXBP1 | c.127+1G= (n.127+1G=) c.169+1G= (n.169+1G=) c.111+1G= c.58+1G= (n.58+1G=) | |
9 | g.127653797G>T | CA375176356 | STXBP1 | c.127+1G>T (n.127+1G>T) c.169+1G>T (n.169+1G>T) c.111+1G>T c.58+1G>T (n.58+1G>T) | |
9 | g.127653798T>A | CA375176358 | STXBP1 | c.127+2T>A (n.127+2T>A) c.169+2T>A (n.169+2T>A) c.111+2T>A c.58+2T>A (n.58+2T>A) | |
9 | g.127653798T>C | CA375176359 | STXBP1 | c.127+2T>C (n.127+2T>C) c.169+2T>C (n.169+2T>C) c.111+2T>C c.58+2T>C (n.58+2T>C) | |
9 | g.127653798T>G | CA375176360 | STXBP1 | c.127+2T>G (n.127+2T>G) c.169+2T>G (n.169+2T>G) c.111+2T>G c.58+2T>G (n.58+2T>G) | |
9 | g.127653799G= | CA1879900604 | STXBP1 | c.127+3G= (n.127+3G=) c.169+3G= (n.169+3G=) c.111+3G= c.58+3G= (n.58+3G=) | |
9 | g.127653799G>T | CA1879900605 | STXBP1 | c.127+3G>T (n.127+3G>T) c.169+3G>T (n.169+3G>T) c.111+3G>T c.58+3G>T (n.58+3G>T) | dbSNP |
9 | g.127653801G>C | CA2697558038 | STXBP1 | c.127+5G>C (n.127+5G>C) c.169+5G>C (n.169+5G>C) c.111+5G>C c.58+5G>C (n.58+5G>C) | ClinVar |
9 | g.127653803_127653806dup | CA913142317 | STXBP1 | c.127+7_127+10dup (n.127+7_127+10dup) c.169+7_169+10dup (n.169+7_169+10dup) c.111+7_111+10dup c.58+7_58+10dup (n.58+7_58+10dup) | |
9 | g.127653802C>T | CA2580079570 | STXBP1 | c.127+6C>T (n.127+6C>T) c.169+6C>T (n.169+6C>T) c.111+6C>T c.58+6C>T (n.58+6C>T) | ClinVar gnomAD v4 |
9 | g.127653803A= | CA1879900607 | STXBP1 | c.127+7A= (n.127+7A=) c.169+7A= (n.169+7A=) c.111+7A= c.58+7A= (n.58+7A=) | |
9 | g.127653803A>G | CA201185140 | STXBP1 | c.127+7A>G (n.127+7A>G) c.169+7A>G (n.169+7A>G) c.111+7A>G c.58+7A>G (n.58+7A>G) | dbSNP gnomAD v4 |
9 | g.127653803A>T | CA2691771452 | STXBP1 | c.127+7A>T (n.127+7A>T) c.169+7A>T (n.169+7A>T) c.111+7A>T c.58+7A>T (n.58+7A>T) | gnomAD v4 |
9 | g.127653804T>C | CA2579458466 | STXBP1 | c.127+8T>C (n.127+8T>C) c.169+8T>C (n.169+8T>C) c.111+8T>C c.58+8T>C (n.58+8T>C) | ClinVar gnomAD v4 |
9 | g.127653806C>A | CA860170507 | STXBP1 | c.127+10C>A (n.127+10C>A) c.169+10C>A (n.169+10C>A) c.111+10C>A c.58+10C>A (n.58+10C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.127653806C= | CA1879900610 | STXBP1 | c.127+10C= (n.127+10C=) c.169+10C= (n.169+10C=) c.111+10C= c.58+10C= (n.58+10C=) | |
9 | g.127653806C>G | CA2691771453 | STXBP1 | c.127+10C>G (n.127+10C>G) c.169+10C>G (n.169+10C>G) c.111+10C>G c.58+10C>G (n.58+10C>G) | gnomAD v4 |
9 | g.127653806C>T | CA16612691 | STXBP1 | c.127+10C>T (n.127+10C>T) c.169+10C>T (n.169+10C>T) c.111+10C>T c.58+10C>T (n.58+10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127653807G>A | CA860170513 | STXBP1 | c.127+11G>A (n.127+11G>A) c.169+11G>A (n.169+11G>A) c.111+11G>A c.58+11G>A (n.58+11G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.127653807G>C | CA860170509 | STXBP1 | c.127+11G>C (n.127+11G>C) c.169+11G>C (n.169+11G>C) c.111+11G>C c.58+11G>C (n.58+11G>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127653807G= | CA1879900612 | STXBP1 | c.127+11G= (n.127+11G=) c.169+11G= (n.169+11G=) c.111+11G= c.58+11G= (n.58+11G=) | |
9 | g.127653808C>A | CA2691771454 | STXBP1 | c.127+12C>A (n.127+12C>A) c.169+12C>A (n.169+12C>A) c.111+12C>A c.58+12C>A (n.58+12C>A) | gnomAD v4 |
9 | g.127653809T>C | CA2579458467 | STXBP1 | c.127+13T>C (n.127+13T>C) c.169+13T>C (n.169+13T>C) c.111+13T>C c.58+13T>C (n.58+13T>C) | gnomAD v4 |
9 | g.127653810C= | CA1879900615 | STXBP1 | c.127+14C= (n.127+14C=) c.169+14C= (n.169+14C=) c.111+14C= c.58+14C= (n.58+14C=) | |
9 | g.127653810C>T | CA5248229 | STXBP1 | c.127+14C>T (n.127+14C>T) c.169+14C>T (n.169+14C>T) c.111+14C>T c.58+14C>T (n.58+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127653813C>T | CA2691771455 | STXBP1 | c.127+17C>T (n.127+17C>T) c.169+17C>T (n.169+17C>T) c.111+17C>T c.58+17C>T (n.58+17C>T) | gnomAD v4 |
9 | g.127653814A= | CA1879900620 | STXBP1 | c.127+18A= (n.127+18A=) c.169+18A= (n.169+18A=) c.111+18A= c.58+18A= (n.58+18A=) | |
9 | g.127653814A>C | CA5248230 | STXBP1 | c.127+18A>C (n.127+18A>C) c.169+18A>C (n.169+18A>C) c.111+18A>C c.58+18A>C (n.58+18A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127653814A>G | CA5248231 | STXBP1 | c.127+18A>G (n.127+18A>G) c.169+18A>G (n.169+18A>G) c.111+18A>G c.58+18A>G (n.58+18A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |