| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127651621_127651624delinsTAAA | CA1879898331 | STXBP1 | c.14_17delinsTAAA (p.Ile5=) c.56_59delinsTAAA (p.Ile19=) c.-56_-53delinsTAAA (n.-56_-53delinsTAAA) | |
| 9 | g.127651622A>C | CA467433762 | STXBP1 | c.15A>C (p.Ile5=) c.57A>C (p.Ile19=) c.-55A>C (n.-55A>C) | |
| 9 | g.127651622A>G | CA375176082 | STXBP1 | c.15A>G (p.Ile5Met) c.57A>G (p.Ile19Met) c.-55A>G (n.-55A>G) | |
| 9 | g.127651622A>T | CA467433761 | STXBP1 | c.15A>T (p.Ile5=) c.57A>T (p.Ile19=) c.-55A>T (n.-55A>T) | |
| 9 | g.127651622_127651624del | CA16044321 | STXBP1 | c.15_17del (p.Ile5_Lys6delinsMet) c.57_59del (p.Ile19_Lys20delinsMet) c.-55_-53del (n.-55_-53del) | ClinVar dbSNP |
| 9 | g.127651622_127651625delinsAAAG | CA1879898340 | STXBP1 | c.15_18delinsAAAG (p.Ile5=) c.57_60delinsAAAG (p.Ile19=) c.-55_-52delinsAAAG (n.-55_-52delinsAAAG) | |
| 9 | g.127651622_127651634delinsAAAGAAGGTCAAG | CA1879898337 | STXBP1 | c.15_27delinsAAAGAAGGTCAAG (p.Ile5=) c.57_69delinsAAAGAAGGTCAAG (p.Ile19=) c.-55_-43delinsAAAGAAGGTCAAG (n.-55_-43delinsAAAGAAGGTCAAG) | |
| 9 | g.127651623A>C | CA375176083 | STXBP1 | c.16A>C (p.Lys6Gln) c.58A>C (p.Lys20Gln) c.-54A>C (n.-54A>C) | |
| 9 | g.127651623A>G | CA375176084 | STXBP1 | c.16A>G (p.Lys6Glu) c.58A>G (p.Lys20Glu) c.-54A>G (n.-54A>G) | |
| 9 | g.127651623A>T | CA375176085 | STXBP1 | c.16A>T (p.Lys6Ter) c.58A>T (p.Lys20Ter) c.-54A>T (n.-54A>T) | |
| 9 | g.127651626_127651628del | CA1879898349 | STXBP1 | c.19_21del (p.Lys7del) c.61_63del (p.Lys21del) c.-51_-49del (n.-51_-49del) | ClinVar dbSNP |
| 9 | g.127651630_127651641del | CA916083065 | STXBP1 | c.23_34del (p.Val8_Lys11del) c.65_76del (p.Val22_Lys25del) c.-47_-36del (n.-47_-36del) | ClinVar dbSNP |
| 9 | g.127651624A>C | CA375176086 | STXBP1 | c.17A>C (p.Lys6Thr) c.59A>C (p.Lys20Thr) c.1A>C c.-53A>C (n.-53A>C) | gnomAD v4 |
| 9 | g.127651624A>G | CA375176087 | STXBP1 | c.17A>G (p.Lys6Arg) c.59A>G (p.Lys20Arg) c.1A>G c.-53A>G (n.-53A>G) | |
| 9 | g.127651624A>T | CA375176088 | STXBP1 | c.17A>T (p.Lys6Met) c.59A>T (p.Lys20Met) c.1A>T c.-53A>T (n.-53A>T) | gnomAD v4 |
| 9 | g.127651625del | CA2695211171 | STXBP1 | c.18del (p.Lys7ArgfsTer16) c.60del (p.Lys21ArgfsTer16) c.2del c.-52del (n.-52del) | |
| 9 | g.127651625G>A | CA467433763 | STXBP1 | c.18G>A (p.Lys6=) c.60G>A (p.Lys20=) c.2G>A c.-52G>A (n.-52G>A) | ClinVar |
| 9 | g.127651625G>C | CA375176089 | STXBP1 | c.18G>C (p.Lys6Asn) c.60G>C (p.Lys20Asn) c.2G>C c.-52G>C (n.-52G>C) | |
| 9 | g.127651625G>T | CA375176090 | STXBP1 | c.18G>T (p.Lys6Asn) c.60G>T (p.Lys20Asn) c.2G>T c.-52G>T (n.-52G>T) | |
| 9 | g.127651626A= | CA1879898353 | STXBP1 | c.19A= (p.Lys7=) c.61A= (p.Lys21=) c.3A= c.-51A= (n.-51A=) | |
| 9 | g.127651626A>C | CA201184755 | STXBP1 | c.19A>C (p.Lys7Gln) c.61A>C (p.Lys21Gln) c.3A>C c.-51A>C (n.-51A>C) | dbSNP gnomAD v4 |
| 9 | g.127651626A>G | CA375176091 | STXBP1 | c.19A>G (p.Lys7Glu) c.61A>G (p.Lys21Glu) c.3A>G c.-51A>G (n.-51A>G) | |
| 9 | g.127651626A>T | CA375176092 | STXBP1 | c.19A>T (p.Lys7Ter) c.61A>T (p.Lys21Ter) c.3A>T c.-51A>T (n.-51A>T) | |
| 9 | g.127651627A>C | CA375176093 | STXBP1 | c.20A>C (p.Lys7Thr) c.62A>C (p.Lys21Thr) c.4A>C c.-50A>C (n.-50A>C) | |
| 9 | g.127651627A>G | CA375176094 | STXBP1 | c.20A>G (p.Lys7Arg) c.62A>G (p.Lys21Arg) c.4A>G c.-50A>G (n.-50A>G) | |
| 9 | g.127651627A>T | CA375176095 | STXBP1 | c.20A>T (p.Lys7Met) c.62A>T (p.Lys21Met) c.4A>T c.-50A>T (n.-50A>T) | |
| 9 | g.127651628G>A | CA467433764 | STXBP1 | c.21G>A (p.Lys7=) c.63G>A (p.Lys21=) c.5G>A c.-49G>A (n.-49G>A) | |
| 9 | g.127651628G>C | CA375176097 | STXBP1 | c.21G>C (p.Lys7Asn) c.63G>C (p.Lys21Asn) c.5G>C c.-49G>C (n.-49G>C) | |
| 9 | g.127651628G>T | CA375176096 | STXBP1 | c.21G>T (p.Lys7Asn) c.63G>T (p.Lys21Asn) c.5G>T c.-49G>T (n.-49G>T) | |
| 9 | g.127651629G>A | CA375176098 | STXBP1 | c.22G>A (p.Val8Ile) c.64G>A (p.Val22Ile) c.6G>A c.-48G>A (n.-48G>A) | gnomAD v4 |
| 9 | g.127651629G>C | CA375176099 | STXBP1 | c.22G>C (p.Val8Leu) c.64G>C (p.Val22Leu) c.6G>C c.-48G>C (n.-48G>C) | |
| 9 | g.127651629G>T | CA375176100 | STXBP1 | c.22G>T (p.Val8Phe) c.64G>T (p.Val22Phe) c.6G>T c.-48G>T (n.-48G>T) | |
| 9 | g.127651630T>A | CA375176101 | STXBP1 | c.23T>A (p.Val8Asp) c.65T>A (p.Val22Asp) c.7T>A c.-47T>A (n.-47T>A) | |
| 9 | g.127651630T>C | CA375176102 | STXBP1 | c.23T>C (p.Val8Ala) c.65T>C (p.Val22Ala) c.7T>C c.-47T>C (n.-47T>C) | |
| 9 | g.127651630T>G | CA375176103 | STXBP1 | c.23T>G (p.Val8Gly) c.65T>G (p.Val22Gly) c.7T>G c.-47T>G (n.-47T>G) | |
| 9 | g.127651631C>A | CA467433765 | STXBP1 | c.24C>A (p.Val8=) c.66C>A (p.Val22=) c.8C>A c.-46C>A (n.-46C>A) | |
| 9 | g.127651631C>G | CA467433767 | STXBP1 | c.24C>G (p.Val8=) c.66C>G (p.Val22=) c.8C>G c.-46C>G (n.-46C>G) | |
| 9 | g.127651631C>T | CA467433766 | STXBP1 | c.24C>T (p.Val8=) c.66C>T (p.Val22=) c.8C>T c.-46C>T (n.-46C>T) | |
| 9 | g.127651632A>C | CA375176104 | STXBP1 | c.25A>C (p.Lys9Gln) c.67A>C (p.Lys23Gln) c.9A>C c.-45A>C (n.-45A>C) | |
| 9 | g.127651632A>G | CA375176106 | STXBP1 | c.25A>G (p.Lys9Glu) c.67A>G (p.Lys23Glu) c.9A>G c.-45A>G (n.-45A>G) | |
| 9 | g.127651632A>T | CA375176105 | STXBP1 | c.25A>T (p.Lys9Ter) c.67A>T (p.Lys23Ter) c.9A>T c.-45A>T (n.-45A>T) | |
| 9 | g.127651633A>C | CA375176107 | STXBP1 | c.26A>C (p.Lys9Thr) c.68A>C (p.Lys23Thr) c.10A>C c.-44A>C (n.-44A>C) | |
| 9 | g.127651633A>G | CA375176108 | STXBP1 | c.26A>G (p.Lys9Arg) c.68A>G (p.Lys23Arg) c.10A>G c.-44A>G (n.-44A>G) | |
| 9 | g.127651633A>T | CA375176109 | STXBP1 | c.26A>T (p.Lys9Met) c.68A>T (p.Lys23Met) c.10A>T c.-44A>T (n.-44A>T) | |
| 9 | g.127651634G>A | CA467433768 | STXBP1 | c.27G>A (p.Lys9=) c.69G>A (p.Lys23=) c.11G>A c.-43G>A (n.-43G>A) | |
| 9 | g.127651634G>C | CA375176110 | STXBP1 | c.27G>C (p.Lys9Asn) c.69G>C (p.Lys23Asn) c.11G>C c.-43G>C (n.-43G>C) | gnomAD v4 |
| 9 | g.127651634G>T | CA375176111 | STXBP1 | c.27G>T (p.Lys9Asn) c.69G>T (p.Lys23Asn) c.11G>T c.-43G>T (n.-43G>T) | |
| 9 | g.127651635A>C | CA375176112 | STXBP1 | c.28A>C (p.Lys10Gln) c.70A>C (p.Lys24Gln) c.12A>C c.-42A>C (n.-42A>C) | |
| 9 | g.127651635A>G | CA375176113 | STXBP1 | c.28A>G (p.Lys10Glu) c.70A>G (p.Lys24Glu) c.12A>G c.-42A>G (n.-42A>G) | ClinVar dbSNP |
| 9 | g.127651635A>T | CA375176114 | STXBP1 | c.28A>T (p.Lys10Ter) c.70A>T (p.Lys24Ter) c.12A>T c.-42A>T (n.-42A>T) |