Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166228664_166228690dup | CA2661765409 | SCN1A-AS1,SCN9A | c.4206+4_4206+30dup (n.4206+4_4206+30dup) c.4050+4_4050+30dup (n.4050+4_4050+30dup) c.4173+4_4173+30dup (n.4173+4_4173+30dup) n.612-19531_612-19505dup c.3819+4_3819+30dup (n.3819+4_3819+30dup) c.3462+4_3462+30dup (n.3462+4_3462+30dup) | gnomAD v4 |
2 | g.166228682del | CA2661765420 | SCN1A-AS1,SCN9A | c.4206+11del (n.4206+11del) c.4050+11del (n.4050+11del) c.4173+11del (n.4173+11del) n.612-19513del c.3819+11del (n.3819+11del) c.3462+11del (n.3462+11del) | gnomAD v4 |
2 | g.166228682G>A | CA1038865934 | SCN1A-AS1,SCN9A | c.4206+9C>T (n.4206+9C>T) c.4050+9C>T (n.4050+9C>T) c.4173+9C>T (n.4173+9C>T) n.612-19513G>A c.3819+9C>T (n.3819+9C>T) c.3462+9C>T (n.3462+9C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228682G= | CA1304943590 | SCN1A-AS1,SCN9A | c.4206+9C= (n.4206+9C=) c.4050+9C= (n.4050+9C=) c.4173+9C= (n.4173+9C=) n.612-19513G= c.3819+9C= (n.3819+9C=) c.3462+9C= (n.3462+9C=) | |
2 | g.166228682G>T | CA2661765421 | SCN1A-AS1,SCN9A | c.4206+9C>A (n.4206+9C>A) c.4050+9C>A (n.4050+9C>A) c.4173+9C>A (n.4173+9C>A) n.612-19513G>T c.3819+9C>A (n.3819+9C>A) c.3462+9C>A (n.3462+9C>A) | gnomAD v4 |
2 | g.166228684_166228685delinsCA | CA1304943591 | SCN1A-AS1,SCN9A | c.4206+6_4206+7delinsTG (n.4206+6_4206+7delinsTG) c.4050+6_4050+7delinsTG (n.4050+6_4050+7delinsTG) c.4173+6_4173+7delinsTG (n.4173+6_4173+7delinsTG) n.612-19511_612-19510delinsCA c.3819+6_3819+7delinsTG (n.3819+6_3819+7delinsTG) c.3462+6_3462+7delinsTG (n.3462+6_3462+7delinsTG) | |
2 | g.166228685del | CA537511612 | SCN1A-AS1,SCN9A | c.4206+6del (n.4206+6del) c.4050+6del (n.4050+6del) c.4173+6del (n.4173+6del) n.612-19510del c.3819+6del (n.3819+6del) c.3462+6del (n.3462+6del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228686C= | CA1304943592 | SCN1A-AS1,SCN9A | c.4206+5G= (n.4206+5G=) c.4050+5G= (n.4050+5G=) c.4173+5G= (n.4173+5G=) n.612-19509C= c.3819+5G= (n.3819+5G=) c.3462+5G= (n.3462+5G=) | |
2 | g.166228686C>T | CA760184414 | SCN1A-AS1,SCN9A | c.4206+5G>A (n.4206+5G>A) c.4050+5G>A (n.4050+5G>A) c.4173+5G>A (n.4173+5G>A) n.612-19509C>T c.3819+5G>A (n.3819+5G>A) c.3462+5G>A (n.3462+5G>A) | dbSNP |
2 | g.166228688T>C | CA1304943594 | SCN1A-AS1,SCN9A | c.4206+3A>G (n.4206+3A>G) c.4050+3A>G (n.4050+3A>G) c.4173+3A>G (n.4173+3A>G) n.612-19507T>C c.3819+3A>G (n.3819+3A>G) c.3462+3A>G (n.3462+3A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.166228688T= | CA1304943593 | SCN1A-AS1,SCN9A | c.4206+3A= (n.4206+3A=) c.4050+3A= (n.4050+3A=) c.4173+3A= (n.4173+3A=) n.612-19507T= c.3819+3A= (n.3819+3A=) c.3462+3A= (n.3462+3A=) | |
2 | g.166228689A>C | CA349063138 | SCN1A-AS1,SCN9A | c.4206+2T>G (n.4206+2T>G) c.4050+2T>G (n.4050+2T>G) c.4173+2T>G (n.4173+2T>G) n.612-19506A>C c.3819+2T>G (n.3819+2T>G) c.3462+2T>G (n.3462+2T>G) | |
2 | g.166228689A>G | CA349063139 | SCN1A-AS1,SCN9A | c.4206+2T>C (n.4206+2T>C) c.4050+2T>C (n.4050+2T>C) c.4173+2T>C (n.4173+2T>C) n.612-19506A>G c.3819+2T>C (n.3819+2T>C) c.3462+2T>C (n.3462+2T>C) | |
2 | g.166228689A>T | CA349063142 | SCN1A-AS1,SCN9A | c.4206+2T>A (n.4206+2T>A) c.4050+2T>A (n.4050+2T>A) c.4173+2T>A (n.4173+2T>A) n.612-19506A>T c.3819+2T>A (n.3819+2T>A) c.3462+2T>A (n.3462+2T>A) | |
2 | g.166228689dup | CA2740095886 | SCN1A-AS1,SCN9A | c.4206+2dup (n.4206+2dup) c.4050+2dup (n.4050+2dup) c.4173+2dup (n.4173+2dup) n.612-19506dup c.3819+2dup (n.3819+2dup) c.3462+2dup (n.3462+2dup) | ClinVar |
2 | g.166228690_166228691del | CA2577144832 | SCN1A-AS1,SCN9A | c.4206+1_4206+2del c.4050+1_4050+2del c.4173+1_4173+2del n.612-19505_612-19504del c.3819+1_3819+2del c.3462+1_3462+2del | |
2 | g.166228690C>A | CA1943932 | SCN1A-AS1,SCN9A | c.4206+1G>T (n.4206+1G>T) c.4050+1G>T (n.4050+1G>T) c.4173+1G>T (n.4173+1G>T) n.612-19505C>A c.3819+1G>T (n.3819+1G>T) c.3462+1G>T (n.3462+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228690C= | CA1304943595 | SCN1A-AS1,SCN9A | c.4206+1G= (n.4206+1G=) c.4050+1G= (n.4050+1G=) c.4173+1G= (n.4173+1G=) n.612-19505C= c.3819+1G= (n.3819+1G=) c.3462+1G= (n.3462+1G=) | |
2 | g.166228690C>G | CA349063145 | SCN1A-AS1,SCN9A | c.4206+1G>C (n.4206+1G>C) c.4050+1G>C (n.4050+1G>C) c.4173+1G>C (n.4173+1G>C) n.612-19505C>G c.3819+1G>C (n.3819+1G>C) c.3462+1G>C (n.3462+1G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228690C>T | CA349063147 | SCN1A-AS1,SCN9A | c.4206+1G>A (n.4206+1G>A) c.4050+1G>A (n.4050+1G>A) c.4173+1G>A (n.4173+1G>A) n.612-19505C>T c.3819+1G>A (n.3819+1G>A) c.3462+1G>A (n.3462+1G>A) | |
2 | g.166228691A>C | CA429899044 | SCN1A-AS1,SCN9A | c.4206T>G (p.Val1402=) c.4050T>G (p.Val1350=) c.4173T>G (p.Val1391=) n.612-19504A>C c.3819T>G (p.Val1273=) c.3462T>G (p.Val1154=) | |
2 | g.166228691A>G | CA429899043 | SCN1A-AS1,SCN9A | c.4206T>C (p.Val1402=) c.4050T>C (p.Val1350=) c.4173T>C (p.Val1391=) n.612-19504A>G c.3819T>C (p.Val1273=) c.3462T>C (p.Val1154=) | |
2 | g.166228691A>T | CA429899042 | SCN1A-AS1,SCN9A | c.4206T>A (p.Val1402=) c.4050T>A (p.Val1350=) c.4173T>A (p.Val1391=) n.612-19504A>T c.3819T>A (p.Val1273=) c.3462T>A (p.Val1154=) | |
2 | g.166228692A= | CA1304943596 | SCN1A-AS1,SCN9A | c.4205T= (p.Val1402=) c.4049T= (p.Val1350=) c.4172T= (p.Val1391=) n.612-19503A= c.3818T= (p.Val1273=) c.3461T= (p.Val1154=) | |
2 | g.166228692A>C | CA349063149 | SCN1A-AS1,SCN9A | c.4205T>G (p.Val1402Gly) c.4049T>G (p.Val1350Gly) c.4172T>G (p.Val1391Gly) n.612-19503A>C c.3818T>G (p.Val1273Gly) c.3461T>G (p.Val1154Gly) | gnomAD v4 |
2 | g.166228692A>G | CA1943933 | SCN1A-AS1,SCN9A | c.4205T>C (p.Val1402Ala) c.4049T>C (p.Val1350Ala) c.4172T>C (p.Val1391Ala) n.612-19503A>G c.3818T>C (p.Val1273Ala) c.3461T>C (p.Val1154Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228692A>T | CA349063152 | SCN1A-AS1,SCN9A | c.4205T>A (p.Val1402Asp) c.4049T>A (p.Val1350Asp) c.4172T>A (p.Val1391Asp) n.612-19503A>T c.3818T>A (p.Val1273Asp) c.3461T>A (p.Val1154Asp) | |
2 | g.166228693C>A | CA349063157 | SCN1A-AS1,SCN9A | c.4204G>T (p.Val1402Phe) c.4048G>T (p.Val1350Phe) c.4171G>T (p.Val1391Phe) n.612-19502C>A c.3817G>T (p.Val1273Phe) c.3460G>T (p.Val1154Phe) | |
2 | g.166228693C>G | CA349063159 | SCN1A-AS1,SCN9A | c.4204G>C (p.Val1402Leu) c.4048G>C (p.Val1350Leu) c.4171G>C (p.Val1391Leu) n.612-19502C>G c.3817G>C (p.Val1273Leu) c.3460G>C (p.Val1154Leu) | |
2 | g.166228693C>T | CA349063155 | SCN1A-AS1,SCN9A | c.4204G>A (p.Val1402Ile) c.4048G>A (p.Val1350Ile) c.4171G>A (p.Val1391Ile) n.612-19502C>T c.3817G>A (p.Val1273Ile) c.3460G>A (p.Val1154Ile) | |
2 | g.166228694T>A | CA349063163 | SCN1A-AS1,SCN9A | c.4203A>T (p.Gln1401His) c.4047A>T (p.Gln1349His) c.4170A>T (p.Gln1390His) n.612-19501T>A c.3816A>T (p.Gln1272His) c.3459A>T (p.Gln1153His) | |
2 | g.166228694T>C | CA429899049 | SCN1A-AS1,SCN9A | c.4203A>G (p.Gln1401=) c.4047A>G (p.Gln1349=) c.4170A>G (p.Gln1390=) n.612-19501T>C c.3816A>G (p.Gln1272=) c.3459A>G (p.Gln1153=) | |
2 | g.166228694T>G | CA349063161 | SCN1A-AS1,SCN9A | c.4203A>C (p.Gln1401His) c.4047A>C (p.Gln1349His) c.4170A>C (p.Gln1390His) n.612-19501T>G c.3816A>C (p.Gln1272His) c.3459A>C (p.Gln1153His) | |
2 | g.166228695T>A | CA349063166 | SCN1A-AS1,SCN9A | c.4202A>T (p.Gln1401Leu) c.4046A>T (p.Gln1349Leu) c.4169A>T (p.Gln1390Leu) n.612-19500T>A c.3815A>T (p.Gln1272Leu) c.3458A>T (p.Gln1153Leu) | |
2 | g.166228695T>C | CA349063168 | SCN1A-AS1,SCN9A | c.4202A>G (p.Gln1401Arg) c.4046A>G (p.Gln1349Arg) c.4169A>G (p.Gln1390Arg) n.612-19500T>C c.3815A>G (p.Gln1272Arg) c.3458A>G (p.Gln1153Arg) | |
2 | g.166228695T>G | CA349063170 | SCN1A-AS1,SCN9A | c.4202A>C (p.Gln1401Pro) c.4046A>C (p.Gln1349Pro) c.4169A>C (p.Gln1390Pro) n.612-19500T>G c.3815A>C (p.Gln1272Pro) c.3458A>C (p.Gln1153Pro) | |
2 | g.166228696G>A | CA349063172 | SCN1A-AS1,SCN9A | c.4201C>T (p.Gln1401Ter) c.4045C>T (p.Gln1349Ter) c.4168C>T (p.Gln1390Ter) n.612-19499G>A c.3814C>T (p.Gln1272Ter) c.3457C>T (p.Gln1153Ter) | dbSNP |
2 | g.166228696G>C | CA349063175 | SCN1A-AS1,SCN9A | c.4201C>G (p.Gln1401Glu) c.4045C>G (p.Gln1349Glu) c.4168C>G (p.Gln1390Glu) n.612-19499G>C c.3814C>G (p.Gln1272Glu) c.3457C>G (p.Gln1153Glu) | COSMIC COSMIC |
2 | g.166228696G= | CA1304943597 | SCN1A-AS1,SCN9A | c.4201C= (p.Gln1401=) c.4045C= (p.Gln1349=) c.4168C= (p.Gln1390=) n.612-19499G= c.3814C= (p.Gln1272=) c.3457C= (p.Gln1153=) | |
2 | g.166228696G>T | CA349063177 | SCN1A-AS1,SCN9A | c.4201C>A (p.Gln1401Lys) c.4045C>A (p.Gln1349Lys) c.4168C>A (p.Gln1390Lys) n.612-19499G>T c.3814C>A (p.Gln1272Lys) c.3457C>A (p.Gln1153Lys) | |
2 | g.166228697A>C | CA429899051 | SCN1A-AS1,SCN9A | c.4200T>G (p.Leu1400=) c.4044T>G (p.Leu1348=) c.4167T>G (p.Leu1389=) n.612-19498A>C c.3813T>G (p.Leu1271=) c.3456T>G (p.Leu1152=) | |
2 | g.166228697A>G | CA429899052 | SCN1A-AS1,SCN9A | c.4200T>C (p.Leu1400=) c.4044T>C (p.Leu1348=) c.4167T>C (p.Leu1389=) n.612-19498A>G c.3813T>C (p.Leu1271=) c.3456T>C (p.Leu1152=) | |
2 | g.166228697A>T | CA429899053 | SCN1A-AS1,SCN9A | c.4200T>A (p.Leu1400=) c.4044T>A (p.Leu1348=) c.4167T>A (p.Leu1389=) n.612-19498A>T c.3813T>A (p.Leu1271=) c.3456T>A (p.Leu1152=) | |
2 | g.166228698A>C | CA349063180 | SCN1A-AS1,SCN9A | c.4199T>G (p.Leu1400Arg) c.4043T>G (p.Leu1348Arg) c.4166T>G (p.Leu1389Arg) n.612-19497A>C c.3812T>G (p.Leu1271Arg) c.3455T>G (p.Leu1152Arg) | |
2 | g.166228698A>G | CA349063184 | SCN1A-AS1,SCN9A | c.4199T>C (p.Leu1400Pro) c.4043T>C (p.Leu1348Pro) c.4166T>C (p.Leu1389Pro) n.612-19497A>G c.3812T>C (p.Leu1271Pro) c.3455T>C (p.Leu1152Pro) | |
2 | g.166228698A>T | CA349063182 | SCN1A-AS1,SCN9A | c.4199T>A (p.Leu1400His) c.4043T>A (p.Leu1348His) c.4166T>A (p.Leu1389His) n.612-19497A>T c.3812T>A (p.Leu1271His) c.3455T>A (p.Leu1152His) | |
2 | g.166228699G>A | CA349063186 | SCN1A-AS1,SCN9A | c.4198C>T (p.Leu1400Phe) c.4042C>T (p.Leu1348Phe) c.4165C>T (p.Leu1389Phe) n.612-19496G>A c.3811C>T (p.Leu1271Phe) c.3454C>T (p.Leu1152Phe) | |
2 | g.166228699G>C | CA349063188 | SCN1A-AS1,SCN9A | c.4198C>G (p.Leu1400Val) c.4042C>G (p.Leu1348Val) c.4165C>G (p.Leu1389Val) n.612-19496G>C c.3811C>G (p.Leu1271Val) c.3454C>G (p.Leu1152Val) | |
2 | g.166228699G>T | CA349063190 | SCN1A-AS1,SCN9A | c.4198C>A (p.Leu1400Ile) c.4042C>A (p.Leu1348Ile) c.4165C>A (p.Leu1389Ile) n.612-19496G>T c.3811C>A (p.Leu1271Ile) c.3454C>A (p.Leu1152Ile) | ClinVar dbSNP |
2 | g.166228700C>A | CA429899056 | SCN1A-AS1,SCN9A | c.4197G>T (p.Leu1399=) c.4041G>T (p.Leu1347=) c.4164G>T (p.Leu1388=) n.612-19495C>A c.3810G>T (p.Leu1270=) c.3453G>T (p.Leu1151=) | |
2 | g.166228700C= | CA1304943598 | SCN1A-AS1,SCN9A | c.4197G= (p.Leu1399=) c.4041G= (p.Leu1347=) c.4164G= (p.Leu1388=) n.612-19495C= c.3810G= (p.Leu1270=) c.3453G= (p.Leu1151=) | |
2 | g.166228700C>G | CA429899057 | SCN1A-AS1,SCN9A | c.4197G>C (p.Leu1399=) c.4041G>C (p.Leu1347=) c.4164G>C (p.Leu1388=) n.612-19495C>G c.3810G>C (p.Leu1270=) c.3453G>C (p.Leu1151=) | |
2 | g.166228700C>T | CA1943934 | SCN1A-AS1,SCN9A | c.4197G>A (p.Leu1399=) c.4041G>A (p.Leu1347=) c.4164G>A (p.Leu1388=) n.612-19495C>T c.3810G>A (p.Leu1270=) c.3453G>A (p.Leu1151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228701A>C | CA349063196 | SCN1A-AS1,SCN9A | c.4196T>G (p.Leu1399Arg) c.4040T>G (p.Leu1347Arg) c.4163T>G (p.Leu1388Arg) n.612-19494A>C c.3809T>G (p.Leu1270Arg) c.3452T>G (p.Leu1151Arg) | |
2 | g.166228701A>G | CA349063200 | SCN1A-AS1,SCN9A | c.4196T>C (p.Leu1399Pro) c.4040T>C (p.Leu1347Pro) c.4163T>C (p.Leu1388Pro) n.612-19494A>G c.3809T>C (p.Leu1270Pro) c.3452T>C (p.Leu1151Pro) | |
2 | g.166228701A>T | CA349063198 | SCN1A-AS1,SCN9A | c.4196T>A (p.Leu1399Gln) c.4040T>A (p.Leu1347Gln) c.4163T>A (p.Leu1388Gln) n.612-19494A>T c.3809T>A (p.Leu1270Gln) c.3452T>A (p.Leu1151Gln) | |
2 | g.166228704_166228705del | CA2580614392 | SCN1A-AS1,SCN9A | c.4195_4196del (p.Leu1399AlafsTer7) c.4039_4040del (p.Leu1347AlafsTer7) c.4162_4163del (p.Leu1388AlafsTer7) n.612-19491_612-19490del c.3808_3809del (p.Leu1270AlafsTer7) c.3451_3452del (p.Leu1151AlafsTer7) | ClinVar dbSNP |
2 | g.166228702G>A | CA429899058 | SCN1A-AS1,SCN9A | c.4195C>T (p.Leu1399=) c.4039C>T (p.Leu1347=) c.4162C>T (p.Leu1388=) n.612-19493G>A c.3808C>T (p.Leu1270=) c.3451C>T (p.Leu1151=) | |
2 | g.166228702G>C | CA349063202 | SCN1A-AS1,SCN9A | c.4195C>G (p.Leu1399Val) c.4039C>G (p.Leu1347Val) c.4162C>G (p.Leu1388Val) n.612-19493G>C c.3808C>G (p.Leu1270Val) c.3451C>G (p.Leu1151Val) | dbSNP COSMIC |
2 | g.166228702G= | CA1304943599 | SCN1A-AS1,SCN9A | c.4195C= (p.Leu1399=) c.4039C= (p.Leu1347=) c.4162C= (p.Leu1388=) n.612-19493G= c.3808C= (p.Leu1270=) c.3451C= (p.Leu1151=) | |
2 | g.166228702G>T | CA349063204 | SCN1A-AS1,SCN9A | c.4195C>A (p.Leu1399Met) c.4039C>A (p.Leu1347Met) c.4162C>A (p.Leu1388Met) n.612-19493G>T c.3808C>A (p.Leu1270Met) c.3451C>A (p.Leu1151Met) | |
2 | g.166228703A>C | CA429899062 | SCN1A-AS1,SCN9A | c.4194T>G (p.Ser1398=) c.4038T>G (p.Ser1346=) c.4161T>G (p.Ser1387=) n.612-19492A>C c.3807T>G (p.Ser1269=) c.3450T>G (p.Ser1150=) | |
2 | g.166228703A>G | CA429899063 | SCN1A-AS1,SCN9A | c.4194T>C (p.Ser1398=) c.4038T>C (p.Ser1346=) c.4161T>C (p.Ser1387=) n.612-19492A>G c.3807T>C (p.Ser1269=) c.3450T>C (p.Ser1150=) | |
2 | g.166228703A>T | CA429899064 | SCN1A-AS1,SCN9A | c.4194T>A (p.Ser1398=) c.4038T>A (p.Ser1346=) c.4161T>A (p.Ser1387=) n.612-19492A>T c.3807T>A (p.Ser1269=) c.3450T>A (p.Ser1150=) | |
2 | g.166228704G>A | CA349063206 | SCN1A-AS1,SCN9A | c.4193C>T (p.Ser1398Phe) c.4037C>T (p.Ser1346Phe) c.4160C>T (p.Ser1387Phe) n.612-19491G>A c.3806C>T (p.Ser1269Phe) c.3449C>T (p.Ser1150Phe) | |
2 | g.166228704G>C | CA349063208 | SCN1A-AS1,SCN9A | c.4193C>G (p.Ser1398Cys) c.4037C>G (p.Ser1346Cys) c.4160C>G (p.Ser1387Cys) n.612-19491G>C c.3806C>G (p.Ser1269Cys) c.3449C>G (p.Ser1150Cys) | |
2 | g.166228704G>T | CA349063210 | SCN1A-AS1,SCN9A | c.4193C>A (p.Ser1398Tyr) c.4037C>A (p.Ser1346Tyr) c.4160C>A (p.Ser1387Tyr) n.612-19491G>T c.3806C>A (p.Ser1269Tyr) c.3449C>A (p.Ser1150Tyr) | |
2 | g.166228705A= | CA1304943600 | SCN1A-AS1,SCN9A | c.4192T= (p.Ser1398=) c.4036T= (p.Ser1346=) c.4159T= (p.Ser1387=) n.612-19490A= c.3805T= (p.Ser1269=) c.3448T= (p.Ser1150=) | |
2 | g.166228705A>C | CA349063212 | SCN1A-AS1,SCN9A | c.4192T>G (p.Ser1398Ala) c.4036T>G (p.Ser1346Ala) c.4159T>G (p.Ser1387Ala) n.612-19490A>C c.3805T>G (p.Ser1269Ala) c.3448T>G (p.Ser1150Ala) | |
2 | g.166228705A>G | CA349063214 | SCN1A-AS1,SCN9A | c.4192T>C (p.Ser1398Pro) c.4036T>C (p.Ser1346Pro) c.4159T>C (p.Ser1387Pro) n.612-19490A>G c.3805T>C (p.Ser1269Pro) c.3448T>C (p.Ser1150Pro) | |
2 | g.166228705A>T | CA349063216 | SCN1A-AS1,SCN9A | c.4192T>A (p.Ser1398Thr) c.4036T>A (p.Ser1346Thr) c.4159T>A (p.Ser1387Thr) n.612-19490A>T c.3805T>A (p.Ser1269Thr) c.3448T>A (p.Ser1150Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228706T>A | CA429899070 | SCN1A-AS1,SCN9A | c.4191A>T (p.Leu1397=) c.4035A>T (p.Leu1345=) c.4158A>T (p.Leu1386=) n.612-19489T>A c.3804A>T (p.Leu1268=) c.3447A>T (p.Leu1149=) | |
2 | g.166228706T>C | CA429899071 | SCN1A-AS1,SCN9A | c.4191A>G (p.Leu1397=) c.4035A>G (p.Leu1345=) c.4158A>G (p.Leu1386=) n.612-19489T>C c.3804A>G (p.Leu1268=) c.3447A>G (p.Leu1149=) | |
2 | g.166228706T>G | CA429899072 | SCN1A-AS1,SCN9A | c.4191A>C (p.Leu1397=) c.4035A>C (p.Leu1345=) c.4158A>C (p.Leu1386=) n.612-19489T>G c.3804A>C (p.Leu1268=) c.3447A>C (p.Leu1149=) | |
2 | g.166228707A= | CA1304943601 | SCN1A-AS1,SCN9A | c.4190T= (p.Leu1397=) c.4034T= (p.Leu1345=) c.4157T= (p.Leu1386=) n.612-19488A= c.3803T= (p.Leu1268=) c.3446T= (p.Leu1149=) | |
2 | g.166228707A>C | CA349063218 | SCN1A-AS1,SCN9A | c.4190T>G (p.Leu1397Arg) c.4034T>G (p.Leu1345Arg) c.4157T>G (p.Leu1386Arg) n.612-19488A>C c.3803T>G (p.Leu1268Arg) c.3446T>G (p.Leu1149Arg) | |
2 | g.166228707A>G | CA349063220 | SCN1A-AS1,SCN9A | c.4190T>C (p.Leu1397Pro) c.4034T>C (p.Leu1345Pro) c.4157T>C (p.Leu1386Pro) n.612-19488A>G c.3803T>C (p.Leu1268Pro) c.3446T>C (p.Leu1149Pro) | ClinVar dbSNP |
2 | g.166228707A>T | CA349063222 | SCN1A-AS1,SCN9A | c.4190T>A (p.Leu1397Gln) c.4034T>A (p.Leu1345Gln) c.4157T>A (p.Leu1386Gln) n.612-19488A>T c.3803T>A (p.Leu1268Gln) c.3446T>A (p.Leu1149Gln) | |
2 | g.166228708G>A | CA429899074 | SCN1A-AS1,SCN9A | c.4189C>T (p.Leu1397=) c.4033C>T (p.Leu1345=) c.4156C>T (p.Leu1386=) n.612-19487G>A c.3802C>T (p.Leu1268=) c.3445C>T (p.Leu1149=) | dbSNP gnomAD v4 |
2 | g.166228708G>C | CA349063226 | SCN1A-AS1,SCN9A | c.4189C>G (p.Leu1397Val) c.4033C>G (p.Leu1345Val) c.4156C>G (p.Leu1386Val) n.612-19487G>C c.3802C>G (p.Leu1268Val) c.3445C>G (p.Leu1149Val) | |
2 | g.166228708G= | CA1304943602 | SCN1A-AS1,SCN9A | c.4189C= (p.Leu1397=) c.4033C= (p.Leu1345=) c.4156C= (p.Leu1386=) n.612-19487G= c.3802C= (p.Leu1268=) c.3445C= (p.Leu1149=) | |
2 | g.166228708G>T | CA59810203 | SCN1A-AS1,SCN9A | c.4189C>A (p.Leu1397Ile) c.4033C>A (p.Leu1345Ile) c.4156C>A (p.Leu1386Ile) n.612-19487G>T c.3802C>A (p.Leu1268Ile) c.3445C>A (p.Leu1149Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228709G>A | CA429899077 | SCN1A-AS1,SCN9A | c.4188C>T (p.Tyr1396=) c.4032C>T (p.Tyr1344=) c.4155C>T (p.Tyr1385=) n.612-19486G>A c.3801C>T (p.Tyr1267=) c.3444C>T (p.Tyr1148=) | |
2 | g.166228709G>C | CA349063229 | SCN1A-AS1,SCN9A | c.4188C>G (p.Tyr1396Ter) c.4032C>G (p.Tyr1344Ter) c.4155C>G (p.Tyr1385Ter) n.612-19486G>C c.3801C>G (p.Tyr1267Ter) c.3444C>G (p.Tyr1148Ter) | |
2 | g.166228709G>T | CA349063231 | SCN1A-AS1,SCN9A | c.4188C>A (p.Tyr1396Ter) c.4032C>A (p.Tyr1344Ter) c.4155C>A (p.Tyr1385Ter) n.612-19486G>T c.3801C>A (p.Tyr1267Ter) c.3444C>A (p.Tyr1148Ter) | |
2 | g.166228710T>A | CA349063234 | SCN1A-AS1,SCN9A | c.4187A>T (p.Tyr1396Phe) c.4031A>T (p.Tyr1344Phe) c.4154A>T (p.Tyr1385Phe) n.612-19485T>A c.3800A>T (p.Tyr1267Phe) c.3443A>T (p.Tyr1148Phe) | |
2 | g.166228710T>C | CA349063235 | SCN1A-AS1,SCN9A | c.4187A>G (p.Tyr1396Cys) c.4031A>G (p.Tyr1344Cys) c.4154A>G (p.Tyr1385Cys) n.612-19485T>C c.3800A>G (p.Tyr1267Cys) c.3443A>G (p.Tyr1148Cys) | |
2 | g.166228710T>G | CA349063237 | SCN1A-AS1,SCN9A | c.4187A>C (p.Tyr1396Ser) c.4031A>C (p.Tyr1344Ser) c.4154A>C (p.Tyr1385Ser) n.612-19485T>G c.3800A>C (p.Tyr1267Ser) c.3443A>C (p.Tyr1148Ser) | |
2 | g.166228711A>C | CA349063239 | SCN1A-AS1,SCN9A | c.4186T>G (p.Tyr1396Asp) c.4030T>G (p.Tyr1344Asp) c.4153T>G (p.Tyr1385Asp) n.612-19484A>C c.3799T>G (p.Tyr1267Asp) c.3442T>G (p.Tyr1148Asp) | |
2 | g.166228711A>G | CA349063241 | SCN1A-AS1,SCN9A | c.4186T>C (p.Tyr1396His) c.4030T>C (p.Tyr1344His) c.4153T>C (p.Tyr1385His) n.612-19484A>G c.3799T>C (p.Tyr1267His) c.3442T>C (p.Tyr1148His) | |
2 | g.166228711A>T | CA349063243 | SCN1A-AS1,SCN9A | c.4186T>A (p.Tyr1396Asn) c.4030T>A (p.Tyr1344Asn) c.4153T>A (p.Tyr1385Asn) n.612-19484A>T c.3799T>A (p.Tyr1267Asn) c.3442T>A (p.Tyr1148Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228712A>C | CA429899079 | SCN1A-AS1,SCN9A | c.4185T>G (p.Gly1395=) c.4029T>G (p.Gly1343=) c.4152T>G (p.Gly1384=) n.612-19483A>C c.3798T>G (p.Gly1266=) c.3441T>G (p.Gly1147=) | |
2 | g.166228712A>G | CA429899081 | SCN1A-AS1,SCN9A | c.4185T>C (p.Gly1395=) c.4029T>C (p.Gly1343=) c.4152T>C (p.Gly1384=) n.612-19483A>G c.3798T>C (p.Gly1266=) c.3441T>C (p.Gly1147=) | |
2 | g.166228712A>T | CA429899080 | SCN1A-AS1,SCN9A | c.4185T>A (p.Gly1395=) c.4029T>A (p.Gly1343=) c.4152T>A (p.Gly1384=) n.612-19483A>T c.3798T>A (p.Gly1266=) c.3441T>A (p.Gly1147=) | |
2 | g.166228713C>A | CA349063245 | SCN1A-AS1,SCN9A | c.4184G>T (p.Gly1395Val) c.4028G>T (p.Gly1343Val) c.4151G>T (p.Gly1384Val) n.612-19482C>A c.3797G>T (p.Gly1266Val) c.3440G>T (p.Gly1147Val) | ClinVar dbSNP gnomAD v4 |
2 | g.166228713C= | CA1304943603 | SCN1A-AS1,SCN9A | c.4184G= (p.Gly1395=) c.4028G= (p.Gly1343=) c.4151G= (p.Gly1384=) n.612-19482C= c.3797G= (p.Gly1266=) c.3440G= (p.Gly1147=) | |
2 | g.166228713C>G | CA349063248 | SCN1A-AS1,SCN9A | c.4184G>C (p.Gly1395Ala) c.4028G>C (p.Gly1343Ala) c.4151G>C (p.Gly1384Ala) n.612-19482C>G c.3797G>C (p.Gly1266Ala) c.3440G>C (p.Gly1147Ala) | gnomAD v4 |
2 | g.166228713C>T | CA1943935 | SCN1A-AS1,SCN9A | c.4184G>A (p.Gly1395Asp) c.4028G>A (p.Gly1343Asp) c.4151G>A (p.Gly1384Asp) n.612-19482C>T c.3797G>A (p.Gly1266Asp) c.3440G>A (p.Gly1147Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228714C>A | CA349063252 | SCN1A-AS1,SCN9A | c.4183G>T (p.Gly1395Cys) c.4027G>T (p.Gly1343Cys) c.4150G>T (p.Gly1384Cys) n.612-19481C>A c.3796G>T (p.Gly1266Cys) c.3439G>T (p.Gly1147Cys) | |
2 | g.166228714C>G | CA349063257 | SCN1A-AS1,SCN9A | c.4183G>C (p.Gly1395Arg) c.4027G>C (p.Gly1343Arg) c.4150G>C (p.Gly1384Arg) n.612-19481C>G c.3796G>C (p.Gly1266Arg) c.3439G>C (p.Gly1147Arg) | ClinVar gnomAD v4 |
2 | g.166228714C>T | CA349063259 | SCN1A-AS1,SCN9A | c.4183G>A (p.Gly1395Ser) c.4027G>A (p.Gly1343Ser) c.4150G>A (p.Gly1384Ser) n.612-19481C>T c.3796G>A (p.Gly1266Ser) c.3439G>A (p.Gly1147Ser) | gnomAD v4 |
2 | g.166228715A>C | CA429899085 | SCN1A-AS1,SCN9A | c.4182T>G (p.Leu1394=) c.4026T>G (p.Leu1342=) c.4149T>G (p.Leu1383=) n.612-19480A>C c.3795T>G (p.Leu1265=) c.3438T>G (p.Leu1146=) | |
2 | g.166228715A>G | CA429899086 | SCN1A-AS1,SCN9A | c.4182T>C (p.Leu1394=) c.4026T>C (p.Leu1342=) c.4149T>C (p.Leu1383=) n.612-19480A>G c.3795T>C (p.Leu1265=) c.3438T>C (p.Leu1146=) | |
2 | g.166228715A>T | CA429899087 | SCN1A-AS1,SCN9A | c.4182T>A (p.Leu1394=) c.4026T>A (p.Leu1342=) c.4149T>A (p.Leu1383=) n.612-19480A>T c.3795T>A (p.Leu1265=) c.3438T>A (p.Leu1146=) | |
2 | g.166228716A>C | CA349063267 | SCN1A-AS1,SCN9A | c.4181T>G (p.Leu1394Arg) c.4025T>G (p.Leu1342Arg) c.4148T>G (p.Leu1383Arg) n.612-19479A>C c.3794T>G (p.Leu1265Arg) c.3437T>G (p.Leu1146Arg) | |
2 | g.166228716A>G | CA349063265 | SCN1A-AS1,SCN9A | c.4181T>C (p.Leu1394Pro) c.4025T>C (p.Leu1342Pro) c.4148T>C (p.Leu1383Pro) n.612-19479A>G c.3794T>C (p.Leu1265Pro) c.3437T>C (p.Leu1146Pro) | |
2 | g.166228716A>T | CA349063263 | SCN1A-AS1,SCN9A | c.4181T>A (p.Leu1394His) c.4025T>A (p.Leu1342His) c.4148T>A (p.Leu1383His) n.612-19479A>T c.3794T>A (p.Leu1265His) c.3437T>A (p.Leu1146His) | gnomAD v4 |
2 | g.166228717G>A | CA349063269 | SCN1A-AS1,SCN9A | c.4180C>T (p.Leu1394Phe) c.4024C>T (p.Leu1342Phe) c.4147C>T (p.Leu1383Phe) n.612-19478G>A c.3793C>T (p.Leu1265Phe) c.3436C>T (p.Leu1146Phe) | dbSNP |
2 | g.166228717G>C | CA349063271 | SCN1A-AS1,SCN9A | c.4180C>G (p.Leu1394Val) c.4024C>G (p.Leu1342Val) c.4147C>G (p.Leu1383Val) n.612-19478G>C c.3793C>G (p.Leu1265Val) c.3436C>G (p.Leu1146Val) | |
2 | g.166228717G= | CA1304943604 | SCN1A-AS1,SCN9A | c.4180C= (p.Leu1394=) c.4024C= (p.Leu1342=) c.4147C= (p.Leu1383=) n.612-19478G= c.3793C= (p.Leu1265=) c.3436C= (p.Leu1146=) | |
2 | g.166228717G>T | CA349063273 | SCN1A-AS1,SCN9A | c.4180C>A (p.Leu1394Ile) c.4024C>A (p.Leu1342Ile) c.4147C>A (p.Leu1383Ile) n.612-19478G>T c.3793C>A (p.Leu1265Ile) c.3436C>A (p.Leu1146Ile) | |
2 | g.166228718T>A | CA429899089 | SCN1A-AS1,SCN9A | c.4179A>T (p.Gly1393=) c.4023A>T (p.Gly1341=) c.4146A>T (p.Gly1382=) n.612-19477T>A c.3792A>T (p.Gly1264=) c.3435A>T (p.Gly1145=) | |
2 | g.166228718T>C | CA429899090 | SCN1A-AS1,SCN9A | c.4179A>G (p.Gly1393=) c.4023A>G (p.Gly1341=) c.4146A>G (p.Gly1382=) n.612-19477T>C c.3792A>G (p.Gly1264=) c.3435A>G (p.Gly1145=) | |
2 | g.166228718T>G | CA429899091 | SCN1A-AS1,SCN9A | c.4179A>C (p.Gly1393=) c.4023A>C (p.Gly1341=) c.4146A>C (p.Gly1382=) n.612-19477T>G c.3792A>C (p.Gly1264=) c.3435A>C (p.Gly1145=) | |
2 | g.166228719C>A | CA349063277 | SCN1A-AS1,SCN9A | c.4178G>T (p.Gly1393Val) c.4022G>T (p.Gly1341Val) c.4145G>T (p.Gly1382Val) n.612-19476C>A c.3791G>T (p.Gly1264Val) c.3434G>T (p.Gly1145Val) | gnomAD v4 |
2 | g.166228719C>G | CA349063278 | SCN1A-AS1,SCN9A | c.4178G>C (p.Gly1393Ala) c.4022G>C (p.Gly1341Ala) c.4145G>C (p.Gly1382Ala) n.612-19476C>G c.3791G>C (p.Gly1264Ala) c.3434G>C (p.Gly1145Ala) | |
2 | g.166228719C>T | CA349063281 | SCN1A-AS1,SCN9A | c.4178G>A (p.Gly1393Glu) c.4022G>A (p.Gly1341Glu) c.4145G>A (p.Gly1382Glu) n.612-19476C>T c.3791G>A (p.Gly1264Glu) c.3434G>A (p.Gly1145Glu) | |
2 | g.166228720C>A | CA349063283 | SCN1A-AS1,SCN9A | c.4177G>T (p.Gly1393Ter) c.4021G>T (p.Gly1341Ter) c.4144G>T (p.Gly1382Ter) n.612-19475C>A c.3790G>T (p.Gly1264Ter) c.3433G>T (p.Gly1145Ter) | dbSNP |
2 | g.166228720C= | CA1304943605 | SCN1A-AS1,SCN9A | c.4177G= (p.Gly1393=) c.4021G= (p.Gly1341=) c.4144G= (p.Gly1382=) n.612-19475C= c.3790G= (p.Gly1264=) c.3433G= (p.Gly1145=) | |
2 | g.166228720C>G | CA349063285 | SCN1A-AS1,SCN9A | c.4177G>C (p.Gly1393Arg) c.4021G>C (p.Gly1341Arg) c.4144G>C (p.Gly1382Arg) n.612-19475C>G c.3790G>C (p.Gly1264Arg) c.3433G>C (p.Gly1145Arg) | |
2 | g.166228720C>T | CA1943936 | SCN1A-AS1,SCN9A | c.4177G>A (p.Gly1393Arg) c.4021G>A (p.Gly1341Arg) c.4144G>A (p.Gly1382Arg) n.612-19475C>T c.3790G>A (p.Gly1264Arg) c.3433G>A (p.Gly1145Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228721G>A | CA1943937 | SCN1A-AS1,SCN9A | c.4176C>T (p.Val1392=) c.4020C>T (p.Val1340=) c.4143C>T (p.Val1381=) n.612-19474G>A c.3789C>T (p.Val1263=) c.3432C>T (p.Val1144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228721G>C | CA429899093 | SCN1A-AS1,SCN9A | c.4176C>G (p.Val1392=) c.4020C>G (p.Val1340=) c.4143C>G (p.Val1381=) n.612-19474G>C c.3789C>G (p.Val1263=) c.3432C>G (p.Val1144=) | |
2 | g.166228721G= | CA1304943606 | SCN1A-AS1,SCN9A | c.4176C= (p.Val1392=) c.4020C= (p.Val1340=) c.4143C= (p.Val1381=) n.612-19474G= c.3789C= (p.Val1263=) c.3432C= (p.Val1144=) | |
2 | g.166228721G>T | CA429899095 | SCN1A-AS1,SCN9A | c.4176C>A (p.Val1392=) c.4020C>A (p.Val1340=) c.4143C>A (p.Val1381=) n.612-19474G>T c.3789C>A (p.Val1263=) c.3432C>A (p.Val1144=) | gnomAD v4 |
2 | g.166228722A>C | CA349063290 | SCN1A-AS1,SCN9A | c.4175T>G (p.Val1392Gly) c.4019T>G (p.Val1340Gly) c.4142T>G (p.Val1381Gly) n.612-19473A>C c.3788T>G (p.Val1263Gly) c.3431T>G (p.Val1144Gly) | |
2 | g.166228722A>G | CA349063291 | SCN1A-AS1,SCN9A | c.4175T>C (p.Val1392Ala) c.4019T>C (p.Val1340Ala) c.4142T>C (p.Val1381Ala) n.612-19473A>G c.3788T>C (p.Val1263Ala) c.3431T>C (p.Val1144Ala) | |
2 | g.166228722A>T | CA349063294 | SCN1A-AS1,SCN9A | c.4175T>A (p.Val1392Asp) c.4019T>A (p.Val1340Asp) c.4142T>A (p.Val1381Asp) n.612-19473A>T c.3788T>A (p.Val1263Asp) c.3431T>A (p.Val1144Asp) | |
2 | g.166228723C>A | CA349063298 | SCN1A-AS1,SCN9A | c.4174G>T (p.Val1392Phe) c.4018G>T (p.Val1340Phe) c.4141G>T (p.Val1381Phe) n.612-19472C>A c.3787G>T (p.Val1263Phe) c.3430G>T (p.Val1144Phe) | |
2 | g.166228723C= | CA1304943607 | SCN1A-AS1,SCN9A | c.4174G= (p.Val1392=) c.4018G= (p.Val1340=) c.4141G= (p.Val1381=) n.612-19472C= c.3787G= (p.Val1263=) c.3430G= (p.Val1144=) | |
2 | g.166228723C>G | CA349063301 | SCN1A-AS1,SCN9A | c.4174G>C (p.Val1392Leu) c.4018G>C (p.Val1340Leu) c.4141G>C (p.Val1381Leu) n.612-19472C>G c.3787G>C (p.Val1263Leu) c.3430G>C (p.Val1144Leu) | |
2 | g.166228723C>T | CA349063296 | SCN1A-AS1,SCN9A | c.4174G>A (p.Val1392Ile) c.4018G>A (p.Val1340Ile) c.4141G>A (p.Val1381Ile) n.612-19472C>T c.3787G>A (p.Val1263Ile) c.3430G>A (p.Val1144Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.166228724A= | CA1304943608 | SCN1A-AS1,SCN9A | c.4173T= (p.Asn1391=) c.4017T= (p.Asn1339=) c.4140T= (p.Asn1380=) n.612-19471A= c.3786T= (p.Asn1262=) c.3429T= (p.Asn1143=) | |
2 | g.166228724A>C | CA349063303 | SCN1A-AS1,SCN9A | c.4173T>G (p.Asn1391Lys) c.4017T>G (p.Asn1339Lys) c.4140T>G (p.Asn1380Lys) n.612-19471A>C c.3786T>G (p.Asn1262Lys) c.3429T>G (p.Asn1143Lys) | |
2 | g.166228724A>G | CA59810222 | SCN1A-AS1,SCN9A | c.4173T>C (p.Asn1391=) c.4017T>C (p.Asn1339=) c.4140T>C (p.Asn1380=) n.612-19471A>G c.3786T>C (p.Asn1262=) c.3429T>C (p.Asn1143=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228724A>T | CA349063305 | SCN1A-AS1,SCN9A | c.4173T>A (p.Asn1391Lys) c.4017T>A (p.Asn1339Lys) c.4140T>A (p.Asn1380Lys) n.612-19471A>T c.3786T>A (p.Asn1262Lys) c.3429T>A (p.Asn1143Lys) | |
2 | g.166228725T>A | CA349063309 | SCN1A-AS1,SCN9A | c.4172A>T (p.Asn1391Ile) c.4016A>T (p.Asn1339Ile) c.4139A>T (p.Asn1380Ile) n.612-19470T>A c.3785A>T (p.Asn1262Ile) c.3428A>T (p.Asn1143Ile) | |
2 | g.166228725T>C | CA349063313 | SCN1A-AS1,SCN9A | c.4172A>G (p.Asn1391Ser) c.4016A>G (p.Asn1339Ser) c.4139A>G (p.Asn1380Ser) n.612-19470T>C c.3785A>G (p.Asn1262Ser) c.3428A>G (p.Asn1143Ser) | |
2 | g.166228725T>G | CA349063311 | SCN1A-AS1,SCN9A | c.4172A>C (p.Asn1391Thr) c.4016A>C (p.Asn1339Thr) c.4139A>C (p.Asn1380Thr) n.612-19470T>G c.3785A>C (p.Asn1262Thr) c.3428A>C (p.Asn1143Thr) | |
2 | g.166228726T>A | CA349063315 | SCN1A-AS1,SCN9A | c.4171A>T (p.Asn1391Tyr) c.4015A>T (p.Asn1339Tyr) c.4138A>T (p.Asn1380Tyr) n.612-19469T>A c.3784A>T (p.Asn1262Tyr) c.3427A>T (p.Asn1143Tyr) | |
2 | g.166228726T>C | CA349063320 | SCN1A-AS1,SCN9A | c.4171A>G (p.Asn1391Asp) c.4015A>G (p.Asn1339Asp) c.4138A>G (p.Asn1380Asp) n.612-19469T>C c.3784A>G (p.Asn1262Asp) c.3427A>G (p.Asn1143Asp) | ClinVar dbSNP |
2 | g.166228726T>G | CA349063317 | SCN1A-AS1,SCN9A | c.4171A>C (p.Asn1391His) c.4015A>C (p.Asn1339His) c.4138A>C (p.Asn1380His) n.612-19469T>G c.3784A>C (p.Asn1262His) c.3427A>C (p.Asn1143His) | |
2 | g.166228727A>C | CA349063322 | SCN1A-AS1,SCN9A | c.4170T>G (p.Asp1390Glu) c.4014T>G (p.Asp1338Glu) c.4137T>G (p.Asp1379Glu) n.612-19468A>C c.3783T>G (p.Asp1261Glu) c.3426T>G (p.Asp1142Glu) | |
2 | g.166228727A>G | CA429899098 | SCN1A-AS1,SCN9A | c.4170T>C (p.Asp1390=) c.4014T>C (p.Asp1338=) c.4137T>C (p.Asp1379=) n.612-19468A>G c.3783T>C (p.Asp1261=) c.3426T>C (p.Asp1142=) | ClinVar dbSNP |
2 | g.166228727A>T | CA349063324 | SCN1A-AS1,SCN9A | c.4170T>A (p.Asp1390Glu) c.4014T>A (p.Asp1338Glu) c.4137T>A (p.Asp1379Glu) n.612-19468A>T c.3783T>A (p.Asp1261Glu) c.3426T>A (p.Asp1142Glu) | |
2 | g.166228728T>A | CA349063326 | SCN1A-AS1,SCN9A | c.4169A>T (p.Asp1390Val) c.4013A>T (p.Asp1338Val) c.4136A>T (p.Asp1379Val) n.612-19467T>A c.3782A>T (p.Asp1261Val) c.3425A>T (p.Asp1142Val) | |
2 | g.166228728T>C | CA349063327 | SCN1A-AS1,SCN9A | c.4169A>G (p.Asp1390Gly) c.4013A>G (p.Asp1338Gly) c.4136A>G (p.Asp1379Gly) n.612-19467T>C c.3782A>G (p.Asp1261Gly) c.3425A>G (p.Asp1142Gly) | |
2 | g.166228728T>G | CA349063329 | SCN1A-AS1,SCN9A | c.4169A>C (p.Asp1390Ala) c.4013A>C (p.Asp1338Ala) c.4136A>C (p.Asp1379Ala) n.612-19467T>G c.3782A>C (p.Asp1261Ala) c.3425A>C (p.Asp1142Ala) | |
2 | g.166228729C>A | CA349063332 | SCN1A-AS1,SCN9A | c.4168G>T (p.Asp1390Tyr) c.4012G>T (p.Asp1338Tyr) c.4135G>T (p.Asp1379Tyr) n.612-19466C>A c.3781G>T (p.Asp1261Tyr) c.3424G>T (p.Asp1142Tyr) | gnomAD v4 |
2 | g.166228729C= | CA1304943609 | SCN1A-AS1,SCN9A | c.4168G= (p.Asp1390=) c.4012G= (p.Asp1338=) c.4135G= (p.Asp1379=) n.612-19466C= c.3781G= (p.Asp1261=) c.3424G= (p.Asp1142=) | |
2 | g.166228729C>G | CA349063334 | SCN1A-AS1,SCN9A | c.4168G>C (p.Asp1390His) c.4012G>C (p.Asp1338His) c.4135G>C (p.Asp1379His) n.612-19466C>G c.3781G>C (p.Asp1261His) c.3424G>C (p.Asp1142His) | |
2 | g.166228729C>T | CA1943938 | SCN1A-AS1,SCN9A | c.4168G>A (p.Asp1390Asn) c.4012G>A (p.Asp1338Asn) c.4135G>A (p.Asp1379Asn) n.612-19466C>T c.3781G>A (p.Asp1261Asn) c.3424G>A (p.Asp1142Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228730A>C | CA349063337 | SCN1A-AS1,SCN9A | c.4167T>G (p.Phe1389Leu) c.4011T>G (p.Phe1337Leu) c.4134T>G (p.Phe1378Leu) n.612-19465A>C c.3780T>G (p.Phe1260Leu) c.3423T>G (p.Phe1141Leu) | |
2 | g.166228730A>G | CA429899100 | SCN1A-AS1,SCN9A | c.4167T>C (p.Phe1389=) c.4011T>C (p.Phe1337=) c.4134T>C (p.Phe1378=) n.612-19465A>G c.3780T>C (p.Phe1260=) c.3423T>C (p.Phe1141=) | |
2 | g.166228730A>T | CA349063340 | SCN1A-AS1,SCN9A | c.4167T>A (p.Phe1389Leu) c.4011T>A (p.Phe1337Leu) c.4134T>A (p.Phe1378Leu) n.612-19465A>T c.3780T>A (p.Phe1260Leu) c.3423T>A (p.Phe1141Leu) | |
2 | g.166228731A>C | CA349063343 | SCN1A-AS1,SCN9A | c.4166T>G (p.Phe1389Cys) c.4010T>G (p.Phe1337Cys) c.4133T>G (p.Phe1378Cys) n.612-19464A>C c.3779T>G (p.Phe1260Cys) c.3422T>G (p.Phe1141Cys) | |
2 | g.166228731A>G | CA349063344 | SCN1A-AS1,SCN9A | c.4166T>C (p.Phe1389Ser) c.4010T>C (p.Phe1337Ser) c.4133T>C (p.Phe1378Ser) n.612-19464A>G c.3779T>C (p.Phe1260Ser) c.3422T>C (p.Phe1141Ser) | |
2 | g.166228731A>T | CA349063346 | SCN1A-AS1,SCN9A | c.4166T>A (p.Phe1389Tyr) c.4010T>A (p.Phe1337Tyr) c.4133T>A (p.Phe1378Tyr) n.612-19464A>T c.3779T>A (p.Phe1260Tyr) c.3422T>A (p.Phe1141Tyr) | |
2 | g.166228732A>C | CA349063353 | SCN1A-AS1,SCN9A | c.4165T>G (p.Phe1389Val) c.4009T>G (p.Phe1337Val) c.4132T>G (p.Phe1378Val) n.612-19463A>C c.3778T>G (p.Phe1260Val) c.3421T>G (p.Phe1141Val) | |
2 | g.166228732A>G | CA349063351 | SCN1A-AS1,SCN9A | c.4165T>C (p.Phe1389Leu) c.4009T>C (p.Phe1337Leu) c.4132T>C (p.Phe1378Leu) n.612-19463A>G c.3778T>C (p.Phe1260Leu) c.3421T>C (p.Phe1141Leu) | |
2 | g.166228732A>T | CA349063349 | SCN1A-AS1,SCN9A | c.4165T>A (p.Phe1389Ile) c.4009T>A (p.Phe1337Ile) c.4132T>A (p.Phe1378Ile) n.612-19463A>T c.3778T>A (p.Phe1260Ile) c.3421T>A (p.Phe1141Ile) | |
2 | g.166228733G>A | CA59810228 | SCN1A-AS1,SCN9A | c.4164C>T (p.Asn1388=) c.4008C>T (p.Asn1336=) c.4131C>T (p.Asn1377=) n.612-19462G>A c.3777C>T (p.Asn1259=) c.3420C>T (p.Asn1140=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228733G>C | CA349063356 | SCN1A-AS1,SCN9A | c.4164C>G (p.Asn1388Lys) c.4008C>G (p.Asn1336Lys) c.4131C>G (p.Asn1377Lys) n.612-19462G>C c.3777C>G (p.Asn1259Lys) c.3420C>G (p.Asn1140Lys) | |
2 | g.166228733G= | CA1304943610 | SCN1A-AS1,SCN9A | c.4164C= (p.Asn1388=) c.4008C= (p.Asn1336=) c.4131C= (p.Asn1377=) n.612-19462G= c.3777C= (p.Asn1259=) c.3420C= (p.Asn1140=) | |
2 | g.166228733G>T | CA349063358 | SCN1A-AS1,SCN9A | c.4164C>A (p.Asn1388Lys) c.4008C>A (p.Asn1336Lys) c.4131C>A (p.Asn1377Lys) n.612-19462G>T c.3777C>A (p.Asn1259Lys) c.3420C>A (p.Asn1140Lys) | |
2 | g.166228734T>A | CA349063361 | SCN1A-AS1,SCN9A | c.4163A>T (p.Asn1388Ile) c.4007A>T (p.Asn1336Ile) c.4130A>T (p.Asn1377Ile) n.612-19461T>A c.3776A>T (p.Asn1259Ile) c.3419A>T (p.Asn1140Ile) | |
2 | g.166228734T>C | CA59810232 | SCN1A-AS1,SCN9A | c.4163A>G (p.Asn1388Ser) c.4007A>G (p.Asn1336Ser) c.4130A>G (p.Asn1377Ser) n.612-19461T>C c.3776A>G (p.Asn1259Ser) c.3419A>G (p.Asn1140Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228734T>G | CA349063364 | SCN1A-AS1,SCN9A | c.4163A>C (p.Asn1388Thr) c.4007A>C (p.Asn1336Thr) c.4130A>C (p.Asn1377Thr) n.612-19461T>G c.3776A>C (p.Asn1259Thr) c.3419A>C (p.Asn1140Thr) | |
2 | g.166228734T= | CA1304943611 | SCN1A-AS1,SCN9A | c.4163A= (p.Asn1388=) c.4007A= (p.Asn1336=) c.4130A= (p.Asn1377=) n.612-19461T= c.3776A= (p.Asn1259=) c.3419A= (p.Asn1140=) | |
2 | g.166228735T>A | CA349063367 | SCN1A-AS1,SCN9A | c.4162A>T (p.Asn1388Tyr) c.4006A>T (p.Asn1336Tyr) c.4129A>T (p.Asn1377Tyr) n.612-19460T>A c.3775A>T (p.Asn1259Tyr) c.3418A>T (p.Asn1140Tyr) | |
2 | g.166228735T>C | CA349063368 | SCN1A-AS1,SCN9A | c.4162A>G (p.Asn1388Asp) c.4006A>G (p.Asn1336Asp) c.4129A>G (p.Asn1377Asp) n.612-19460T>C c.3775A>G (p.Asn1259Asp) c.3418A>G (p.Asn1140Asp) | |
2 | g.166228735T>G | CA349063371 | SCN1A-AS1,SCN9A | c.4162A>C (p.Asn1388His) c.4006A>C (p.Asn1336His) c.4129A>C (p.Asn1377His) n.612-19460T>G c.3775A>C (p.Asn1259His) c.3418A>C (p.Asn1140His) | |
2 | g.166228736C>A | CA429899102 | SCN1A-AS1,SCN9A | c.4161G>T (p.Val1387=) c.4005G>T (p.Val1335=) c.4128G>T (p.Val1376=) n.612-19459C>A c.3774G>T (p.Val1258=) c.3417G>T (p.Val1139=) | |
2 | g.166228736C>G | CA429899103 | SCN1A-AS1,SCN9A | c.4161G>C (p.Val1387=) c.4005G>C (p.Val1335=) c.4128G>C (p.Val1376=) n.612-19459C>G c.3774G>C (p.Val1258=) c.3417G>C (p.Val1139=) | |
2 | g.166228736C>T | CA429899104 | SCN1A-AS1,SCN9A | c.4161G>A (p.Val1387=) c.4005G>A (p.Val1335=) c.4128G>A (p.Val1376=) n.612-19459C>T c.3774G>A (p.Val1258=) c.3417G>A (p.Val1139=) | gnomAD v4 COSMIC COSMIC |
2 | g.166228737A= | CA1304943612 | SCN1A-AS1,SCN9A | c.4160T= (p.Val1387=) c.4004T= (p.Val1335=) c.4127T= (p.Val1376=) n.612-19458A= c.3773T= (p.Val1258=) c.3416T= (p.Val1139=) | |
2 | g.166228737A>C | CA349063373 | SCN1A-AS1,SCN9A | c.4160T>G (p.Val1387Gly) c.4004T>G (p.Val1335Gly) c.4127T>G (p.Val1376Gly) n.612-19458A>C c.3773T>G (p.Val1258Gly) c.3416T>G (p.Val1139Gly) | |
2 | g.166228737A>G | CA349063375 | SCN1A-AS1,SCN9A | c.4160T>C (p.Val1387Ala) c.4004T>C (p.Val1335Ala) c.4127T>C (p.Val1376Ala) n.612-19458A>G c.3773T>C (p.Val1258Ala) c.3416T>C (p.Val1139Ala) | ClinVar |
2 | g.166228737A>T | CA349063377 | SCN1A-AS1,SCN9A | c.4160T>A (p.Val1387Glu) c.4004T>A (p.Val1335Glu) c.4127T>A (p.Val1376Glu) n.612-19458A>T c.3773T>A (p.Val1258Glu) c.3416T>A (p.Val1139Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228738C>A | CA349063384 | SCN1A-AS1,SCN9A | c.4159G>T (p.Val1387Leu) c.4003G>T (p.Val1335Leu) c.4126G>T (p.Val1376Leu) n.612-19457C>A c.3772G>T (p.Val1258Leu) c.3415G>T (p.Val1139Leu) | |
2 | g.166228738C>G | CA349063382 | SCN1A-AS1,SCN9A | c.4159G>C (p.Val1387Leu) c.4003G>C (p.Val1335Leu) c.4126G>C (p.Val1376Leu) n.612-19457C>G c.3772G>C (p.Val1258Leu) c.3415G>C (p.Val1139Leu) | |
2 | g.166228738C>T | CA349063379 | SCN1A-AS1,SCN9A | c.4159G>A (p.Val1387Met) c.4003G>A (p.Val1335Met) c.4126G>A (p.Val1376Met) n.612-19457C>T c.3772G>A (p.Val1258Met) c.3415G>A (p.Val1139Met) | |
2 | g.166228739T>A | CA349063386 | SCN1A-AS1,SCN9A | c.4158A>T (p.Lys1386Asn) c.4002A>T (p.Lys1334Asn) c.4125A>T (p.Lys1375Asn) n.612-19456T>A c.3771A>T (p.Lys1257Asn) c.3414A>T (p.Lys1138Asn) | |
2 | g.166228739T>C | CA429899107 | SCN1A-AS1,SCN9A | c.4158A>G (p.Lys1386=) c.4002A>G (p.Lys1334=) c.4125A>G (p.Lys1375=) n.612-19456T>C c.3771A>G (p.Lys1257=) c.3414A>G (p.Lys1138=) | |
2 | g.166228739T>G | CA349063389 | SCN1A-AS1,SCN9A | c.4158A>C (p.Lys1386Asn) c.4002A>C (p.Lys1334Asn) c.4125A>C (p.Lys1375Asn) n.612-19456T>G c.3771A>C (p.Lys1257Asn) c.3414A>C (p.Lys1138Asn) | |
2 | g.166228740T>A | CA349063391 | SCN1A-AS1,SCN9A | c.4157A>T (p.Lys1386Ile) c.4001A>T (p.Lys1334Ile) c.4124A>T (p.Lys1375Ile) n.612-19455T>A c.3770A>T (p.Lys1257Ile) c.3413A>T (p.Lys1138Ile) | |
2 | g.166228740T>C | CA1943939 | SCN1A-AS1,SCN9A | c.4157A>G (p.Lys1386Arg) c.4001A>G (p.Lys1334Arg) c.4124A>G (p.Lys1375Arg) n.612-19455T>C c.3770A>G (p.Lys1257Arg) c.3413A>G (p.Lys1138Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228740T>G | CA349063395 | SCN1A-AS1,SCN9A | c.4157A>C (p.Lys1386Thr) c.4001A>C (p.Lys1334Thr) c.4124A>C (p.Lys1375Thr) n.612-19455T>G c.3770A>C (p.Lys1257Thr) c.3413A>C (p.Lys1138Thr) | |
2 | g.166228740T= | CA1304943613 | SCN1A-AS1,SCN9A | c.4157A= (p.Lys1386=) c.4001A= (p.Lys1334=) c.4124A= (p.Lys1375=) n.612-19455T= c.3770A= (p.Lys1257=) c.3413A= (p.Lys1138=) | |
2 | g.166228741T>A | CA349063397 | SCN1A-AS1,SCN9A | c.4156A>T (p.Lys1386Ter) c.4000A>T (p.Lys1334Ter) c.4123A>T (p.Lys1375Ter) n.612-19454T>A c.3769A>T (p.Lys1257Ter) c.3412A>T (p.Lys1138Ter) | dbSNP |
2 | g.166228741T>C | CA349063400 | SCN1A-AS1,SCN9A | c.4156A>G (p.Lys1386Glu) c.4000A>G (p.Lys1334Glu) c.4123A>G (p.Lys1375Glu) n.612-19454T>C c.3769A>G (p.Lys1257Glu) c.3412A>G (p.Lys1138Glu) | ClinVar gnomAD v4 |
2 | g.166228741T>G | CA1943940 | SCN1A-AS1,SCN9A | c.4156A>C (p.Lys1386Gln) c.4000A>C (p.Lys1334Gln) c.4123A>C (p.Lys1375Gln) n.612-19454T>G c.3769A>C (p.Lys1257Gln) c.3412A>C (p.Lys1138Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228741T= | CA1304943614 | SCN1A-AS1,SCN9A | c.4156A= (p.Lys1386=) c.4000A= (p.Lys1334=) c.4123A= (p.Lys1375=) n.612-19454T= c.3769A= (p.Lys1257=) c.3412A= (p.Lys1138=) | |
2 | g.166228742C>A | CA429899113 | SCN1A-AS1,SCN9A | c.4155G>T (p.Leu1385=) c.3999G>T (p.Leu1333=) c.4122G>T (p.Leu1374=) n.612-19453C>A c.3768G>T (p.Leu1256=) c.3411G>T (p.Leu1137=) | |
2 | g.166228742C= | CA1304943615 | SCN1A-AS1,SCN9A | c.4155G= (p.Leu1385=) c.3999G= (p.Leu1333=) c.4122G= (p.Leu1374=) n.612-19453C= c.3768G= (p.Leu1256=) c.3411G= (p.Leu1137=) | |
2 | g.166228742C>G | CA429899111 | SCN1A-AS1,SCN9A | c.4155G>C (p.Leu1385=) c.3999G>C (p.Leu1333=) c.4122G>C (p.Leu1374=) n.612-19453C>G c.3768G>C (p.Leu1256=) c.3411G>C (p.Leu1137=) | |
2 | g.166228742C>T | CA429899112 | SCN1A-AS1,SCN9A | c.4155G>A (p.Leu1385=) c.3999G>A (p.Leu1333=) c.4122G>A (p.Leu1374=) n.612-19453C>T c.3768G>A (p.Leu1256=) c.3411G>A (p.Leu1137=) | ClinVar dbSNP gnomAD v4 |
2 | g.166228744_166228758del | CA2586970372 | SCN1A-AS1,SCN9A | c.4141_4155del (p.Arg1381_Leu1385del) c.3985_3999del (p.Arg1329_Leu1333del) c.4108_4122del (p.Arg1370_Leu1374del) n.612-19451_612-19437del c.3754_3768del (p.Arg1252_Leu1256del) c.3397_3411del (p.Arg1133_Leu1137del) | |
2 | g.166228743A>C | CA349063404 | SCN1A-AS1,SCN9A | c.4154T>G (p.Leu1385Arg) c.3998T>G (p.Leu1333Arg) c.4121T>G (p.Leu1374Arg) n.612-19452A>C c.3767T>G (p.Leu1256Arg) c.3410T>G (p.Leu1137Arg) | |
2 | g.166228743A>G | CA349063405 | SCN1A-AS1,SCN9A | c.4154T>C (p.Leu1385Pro) c.3998T>C (p.Leu1333Pro) c.4121T>C (p.Leu1374Pro) n.612-19452A>G c.3767T>C (p.Leu1256Pro) c.3410T>C (p.Leu1137Pro) | |
2 | g.166228743A>T | CA349063407 | SCN1A-AS1,SCN9A | c.4154T>A (p.Leu1385Gln) c.3998T>A (p.Leu1333Gln) c.4121T>A (p.Leu1374Gln) n.612-19452A>T c.3767T>A (p.Leu1256Gln) c.3410T>A (p.Leu1137Gln) | COSMIC COSMIC |
2 | g.166228744G>A | CA429899114 | SCN1A-AS1,SCN9A | c.4153C>T (p.Leu1385=) c.3997C>T (p.Leu1333=) c.4120C>T (p.Leu1374=) n.612-19451G>A c.3766C>T (p.Leu1256=) c.3409C>T (p.Leu1137=) | |
2 | g.166228744G>C | CA349063409 | SCN1A-AS1,SCN9A | c.4153C>G (p.Leu1385Val) c.3997C>G (p.Leu1333Val) c.4120C>G (p.Leu1374Val) n.612-19451G>C c.3766C>G (p.Leu1256Val) c.3409C>G (p.Leu1137Val) | |
2 | g.166228744G>T | CA349063411 | SCN1A-AS1,SCN9A | c.4153C>A (p.Leu1385Met) c.3997C>A (p.Leu1333Met) c.4120C>A (p.Leu1374Met) n.612-19451G>T c.3766C>A (p.Leu1256Met) c.3409C>A (p.Leu1137Met) | |
2 | g.166228745G>A | CA429899115 | SCN1A-AS1,SCN9A | c.4152C>T (p.Asn1384=) c.3996C>T (p.Asn1332=) c.4119C>T (p.Asn1373=) n.612-19450G>A c.3765C>T (p.Asn1255=) c.3408C>T (p.Asn1136=) | COSMIC COSMIC |
2 | g.166228745G>C | CA349063413 | SCN1A-AS1,SCN9A | c.4152C>G (p.Asn1384Lys) c.3996C>G (p.Asn1332Lys) c.4119C>G (p.Asn1373Lys) n.612-19450G>C c.3765C>G (p.Asn1255Lys) c.3408C>G (p.Asn1136Lys) | |
2 | g.166228745G>T | CA349063415 | SCN1A-AS1,SCN9A | c.4152C>A (p.Asn1384Lys) c.3996C>A (p.Asn1332Lys) c.4119C>A (p.Asn1373Lys) n.612-19450G>T c.3765C>A (p.Asn1255Lys) c.3408C>A (p.Asn1136Lys) | |
2 | g.166228746T>A | CA349063417 | SCN1A-AS1,SCN9A | c.4151A>T (p.Asn1384Ile) c.3995A>T (p.Asn1332Ile) c.4118A>T (p.Asn1373Ile) n.612-19449T>A c.3764A>T (p.Asn1255Ile) c.3407A>T (p.Asn1136Ile) | |
2 | g.166228746T>C | CA349063419 | SCN1A-AS1,SCN9A | c.4151A>G (p.Asn1384Ser) c.3995A>G (p.Asn1332Ser) c.4118A>G (p.Asn1373Ser) n.612-19449T>C c.3764A>G (p.Asn1255Ser) c.3407A>G (p.Asn1136Ser) | |
2 | g.166228746T>G | CA349063422 | SCN1A-AS1,SCN9A | c.4151A>C (p.Asn1384Thr) c.3995A>C (p.Asn1332Thr) c.4118A>C (p.Asn1373Thr) n.612-19449T>G c.3764A>C (p.Asn1255Thr) c.3407A>C (p.Asn1136Thr) | |
2 | g.166228747T>A | CA349063424 | SCN1A-AS1,SCN9A | c.4150A>T (p.Asn1384Tyr) c.3994A>T (p.Asn1332Tyr) c.4117A>T (p.Asn1373Tyr) n.612-19448T>A c.3763A>T (p.Asn1255Tyr) c.3406A>T (p.Asn1136Tyr) | |
2 | g.166228747T>C | CA349063425 | SCN1A-AS1,SCN9A | c.4150A>G (p.Asn1384Asp) c.3994A>G (p.Asn1332Asp) c.4117A>G (p.Asn1373Asp) n.612-19448T>C c.3763A>G (p.Asn1255Asp) c.3406A>G (p.Asn1136Asp) | |
2 | g.166228747T>G | CA349063426 | SCN1A-AS1,SCN9A | c.4150A>C (p.Asn1384His) c.3994A>C (p.Asn1332His) c.4117A>C (p.Asn1373His) n.612-19448T>G c.3763A>C (p.Asn1255His) c.3406A>C (p.Asn1136His) | |
2 | g.166228748T>A | CA349063427 | SCN1A-AS1,SCN9A | c.4149A>T (p.Lys1383Asn) c.3993A>T (p.Lys1331Asn) c.4116A>T (p.Lys1372Asn) n.612-19447T>A c.3762A>T (p.Lys1254Asn) c.3405A>T (p.Lys1135Asn) | |
2 | g.166228748T>C | CA429899119 | SCN1A-AS1,SCN9A | c.4149A>G (p.Lys1383=) c.3993A>G (p.Lys1331=) c.4116A>G (p.Lys1372=) n.612-19447T>C c.3762A>G (p.Lys1254=) c.3405A>G (p.Lys1135=) | dbSNP |
2 | g.166228748T>G | CA349063428 | SCN1A-AS1,SCN9A | c.4149A>C (p.Lys1383Asn) c.3993A>C (p.Lys1331Asn) c.4116A>C (p.Lys1372Asn) n.612-19447T>G c.3762A>C (p.Lys1254Asn) c.3405A>C (p.Lys1135Asn) | |
2 | g.166228748T= | CA1304943616 | SCN1A-AS1,SCN9A | c.4149A= (p.Lys1383=) c.3993A= (p.Lys1331=) c.4116A= (p.Lys1372=) n.612-19447T= c.3762A= (p.Lys1254=) c.3405A= (p.Lys1135=) | |
2 | g.166228749T>A | CA349063429 | SCN1A-AS1,SCN9A | c.4148A>T (p.Lys1383Ile) c.3992A>T (p.Lys1331Ile) c.4115A>T (p.Lys1372Ile) n.612-19446T>A c.3761A>T (p.Lys1254Ile) c.3404A>T (p.Lys1135Ile) | |
2 | g.166228749T>C | CA209307 | SCN1A-AS1,SCN9A | c.4148A>G (p.Lys1383Arg) c.3992A>G (p.Lys1331Arg) c.4115A>G (p.Lys1372Arg) n.612-19446T>C c.3761A>G (p.Lys1254Arg) c.3404A>G (p.Lys1135Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228749T>G | CA349063430 | SCN1A-AS1,SCN9A | c.4148A>C (p.Lys1383Thr) c.3992A>C (p.Lys1331Thr) c.4115A>C (p.Lys1372Thr) n.612-19446T>G c.3761A>C (p.Lys1254Thr) c.3404A>C (p.Lys1135Thr) | |
2 | g.166228749T= | CA1304943617 | SCN1A-AS1,SCN9A | c.4148A= (p.Lys1383=) c.3992A= (p.Lys1331=) c.4115A= (p.Lys1372=) n.612-19446T= c.3761A= (p.Lys1254=) c.3404A= (p.Lys1135=) | |
2 | g.166228750T>A | CA349063432 | SCN1A-AS1,SCN9A | c.4147A>T (p.Lys1383Ter) c.3991A>T (p.Lys1331Ter) c.4114A>T (p.Lys1372Ter) n.612-19445T>A c.3760A>T (p.Lys1254Ter) c.3403A>T (p.Lys1135Ter) | |
2 | g.166228750T>C | CA1943941 | SCN1A-AS1,SCN9A | c.4147A>G (p.Lys1383Glu) c.3991A>G (p.Lys1331Glu) c.4114A>G (p.Lys1372Glu) n.612-19445T>C c.3760A>G (p.Lys1254Glu) c.3403A>G (p.Lys1135Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228750T>G | CA349063431 | SCN1A-AS1,SCN9A | c.4147A>C (p.Lys1383Gln) c.3991A>C (p.Lys1331Gln) c.4114A>C (p.Lys1372Gln) n.612-19445T>G c.3760A>C (p.Lys1254Gln) c.3403A>C (p.Lys1135Gln) | |
2 | g.166228750T= | CA1304943618 | SCN1A-AS1,SCN9A | c.4147A= (p.Lys1383=) c.3991A= (p.Lys1331=) c.4114A= (p.Lys1372=) n.612-19445T= c.3760A= (p.Lys1254=) c.3403A= (p.Lys1135=) | |
2 | g.166228751C>A | CA349063433 | SCN1A-AS1,SCN9A | c.4146G>T (p.Trp1382Cys) c.3990G>T (p.Trp1330Cys) c.4113G>T (p.Trp1371Cys) n.612-19444C>A c.3759G>T (p.Trp1253Cys) c.3402G>T (p.Trp1134Cys) | |
2 | g.166228751C= | CA1304943619 | SCN1A-AS1,SCN9A | c.4146G= (p.Trp1382=) c.3990G= (p.Trp1330=) c.4113G= (p.Trp1371=) n.612-19444C= c.3759G= (p.Trp1253=) c.3402G= (p.Trp1134=) | |
2 | g.166228751C>G | CA349063435 | SCN1A-AS1,SCN9A | c.4146G>C (p.Trp1382Cys) c.3990G>C (p.Trp1330Cys) c.4113G>C (p.Trp1371Cys) n.612-19444C>G c.3759G>C (p.Trp1253Cys) c.3402G>C (p.Trp1134Cys) | |
2 | g.166228751C>T | CA349063434 | SCN1A-AS1,SCN9A | c.4146G>A (p.Trp1382Ter) c.3990G>A (p.Trp1330Ter) c.4113G>A (p.Trp1371Ter) n.612-19444C>T c.3759G>A (p.Trp1253Ter) c.3402G>A (p.Trp1134Ter) | dbSNP COSMIC COSMIC |
2 | g.166228752C>A | CA349063436 | SCN1A-AS1,SCN9A | c.4145G>T (p.Trp1382Leu) c.3989G>T (p.Trp1330Leu) c.4112G>T (p.Trp1371Leu) n.612-19443C>A c.3758G>T (p.Trp1253Leu) c.3401G>T (p.Trp1134Leu) | |
2 | g.166228752C>G | CA349063437 | SCN1A-AS1,SCN9A | c.4145G>C (p.Trp1382Ser) c.3989G>C (p.Trp1330Ser) c.4112G>C (p.Trp1371Ser) n.612-19443C>G c.3758G>C (p.Trp1253Ser) c.3401G>C (p.Trp1134Ser) | |
2 | g.166228752C>T | CA349063438 | SCN1A-AS1,SCN9A | c.4145G>A (p.Trp1382Ter) c.3989G>A (p.Trp1330Ter) c.4112G>A (p.Trp1371Ter) n.612-19443C>T c.3758G>A (p.Trp1253Ter) c.3401G>A (p.Trp1134Ter) | |
2 | g.166228753A= | CA1304943620 | SCN1A-AS1,SCN9A | c.4144T= (p.Trp1382=) c.3988T= (p.Trp1330=) c.4111T= (p.Trp1371=) n.612-19442A= c.3757T= (p.Trp1253=) c.3400T= (p.Trp1134=) | |
2 | g.166228753A>C | CA349063439 | SCN1A-AS1,SCN9A | c.4144T>G (p.Trp1382Gly) c.3988T>G (p.Trp1330Gly) c.4111T>G (p.Trp1371Gly) n.612-19442A>C c.3757T>G (p.Trp1253Gly) c.3400T>G (p.Trp1134Gly) | |
2 | g.166228753A>G | CA349063440 | SCN1A-AS1,SCN9A | c.4144T>C (p.Trp1382Arg) c.3988T>C (p.Trp1330Arg) c.4111T>C (p.Trp1371Arg) n.612-19442A>G c.3757T>C (p.Trp1253Arg) c.3400T>C (p.Trp1134Arg) | ClinVar gnomAD v4 |
2 | g.166228753A>T | CA1943942 | SCN1A-AS1,SCN9A | c.4144T>A (p.Trp1382Arg) c.3988T>A (p.Trp1330Arg) c.4111T>A (p.Trp1371Arg) n.612-19442A>T c.3757T>A (p.Trp1253Arg) c.3400T>A (p.Trp1134Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166228754T>A | CA429899123 | SCN1A-AS1,SCN9A | c.4143A>T (p.Arg1381=) c.3987A>T (p.Arg1329=) c.4110A>T (p.Arg1370=) n.612-19441T>A c.3756A>T (p.Arg1252=) c.3399A>T (p.Arg1133=) | ClinVar dbSNP gnomAD v4 |
2 | g.166228754T>C | CA59810250 | SCN1A-AS1,SCN9A | c.4143A>G (p.Arg1381=) c.3987A>G (p.Arg1329=) c.4110A>G (p.Arg1370=) n.612-19441T>C c.3756A>G (p.Arg1252=) c.3399A>G (p.Arg1133=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228754T>G | CA429899125 | SCN1A-AS1,SCN9A | c.4143A>C (p.Arg1381=) c.3987A>C (p.Arg1329=) c.4110A>C (p.Arg1370=) n.612-19441T>G c.3756A>C (p.Arg1252=) c.3399A>C (p.Arg1133=) | |
2 | g.166228754T= | CA1304943621 | SCN1A-AS1,SCN9A | c.4143A= (p.Arg1381=) c.3987A= (p.Arg1329=) c.4110A= (p.Arg1370=) n.612-19441T= c.3756A= (p.Arg1252=) c.3399A= (p.Arg1133=) | |
2 | g.166228755C>A | CA349063441 | SCN1A-AS1,SCN9A | c.4142G>T (p.Arg1381Leu) c.3986G>T (p.Arg1329Leu) c.4109G>T (p.Arg1370Leu) n.612-19440C>A c.3755G>T (p.Arg1252Leu) c.3398G>T (p.Arg1133Leu) | |
2 | g.166228755C= | CA1304943622 | SCN1A-AS1,SCN9A | c.4142G= (p.Arg1381=) c.3986G= (p.Arg1329=) c.4109G= (p.Arg1370=) n.612-19440C= c.3755G= (p.Arg1252=) c.3398G= (p.Arg1133=) | |
2 | g.166228755C>G | CA349063442 | SCN1A-AS1,SCN9A | c.4142G>C (p.Arg1381Pro) c.3986G>C (p.Arg1329Pro) c.4109G>C (p.Arg1370Pro) n.612-19440C>G c.3755G>C (p.Arg1252Pro) c.3398G>C (p.Arg1133Pro) | |
2 | g.166228755C>T | CA1943943 | SCN1A-AS1,SCN9A | c.4142G>A (p.Arg1381Gln) c.3986G>A (p.Arg1329Gln) c.4109G>A (p.Arg1370Gln) n.612-19440C>T c.3755G>A (p.Arg1252Gln) c.3398G>A (p.Arg1133Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228756G>A | CA1943944 | SCN1A-AS1,SCN9A | c.4141C>T (p.Arg1381Ter) c.3985C>T (p.Arg1329Ter) c.4108C>T (p.Arg1370Ter) n.612-19439G>A c.3754C>T (p.Arg1252Ter) c.3397C>T (p.Arg1133Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166228756G>C | CA349063443 | SCN1A-AS1,SCN9A | c.4141C>G (p.Arg1381Gly) c.3985C>G (p.Arg1329Gly) c.4108C>G (p.Arg1370Gly) n.612-19439G>C c.3754C>G (p.Arg1252Gly) c.3397C>G (p.Arg1133Gly) | gnomAD v4 |
2 | g.166228756G= | CA1304943623 | SCN1A-AS1,SCN9A | c.4141C= (p.Arg1381=) c.3985C= (p.Arg1329=) c.4108C= (p.Arg1370=) n.612-19439G= c.3754C= (p.Arg1252=) c.3397C= (p.Arg1133=) | |
2 | g.166228756G>T | CA16603952 | SCN1A-AS1,SCN9A | c.4141C>A (p.Arg1381=) c.3985C>A (p.Arg1329=) c.4108C>A (p.Arg1370=) n.612-19439G>T c.3754C>A (p.Arg1252=) c.3397C>A (p.Arg1133=) | ClinVar dbSNP |
2 | g.166228757C>A | CA429899127 | SCN1A-AS1,SCN9A | c.4140G>T (p.Val1380=) c.3984G>T (p.Val1328=) c.4107G>T (p.Val1369=) n.612-19438C>A c.3753G>T (p.Val1251=) c.3396G>T (p.Val1132=) | |
2 | g.166228757C= | CA1304943624 | SCN1A-AS1,SCN9A | c.4140G= (p.Val1380=) c.3984G= (p.Val1328=) c.4107G= (p.Val1369=) n.612-19438C= c.3753G= (p.Val1251=) c.3396G= (p.Val1132=) | |
2 | g.166228757C>G | CA429899128 | SCN1A-AS1,SCN9A | c.4140G>C (p.Val1380=) c.3984G>C (p.Val1328=) c.4107G>C (p.Val1369=) n.612-19438C>G c.3753G>C (p.Val1251=) c.3396G>C (p.Val1132=) | |
2 | g.166228757C>T | CA429899129 | SCN1A-AS1,SCN9A | c.4140G>A (p.Val1380=) c.3984G>A (p.Val1328=) c.4107G>A (p.Val1369=) n.612-19438C>T c.3753G>A (p.Val1251=) c.3396G>A (p.Val1132=) | ClinVar dbSNP gnomAD v4 |
2 | g.166228758A= | CA1304943625 | SCN1A-AS1,SCN9A | c.4139T= (p.Val1380=) c.3983T= (p.Val1328=) c.4106T= (p.Val1369=) n.612-19437A= c.3752T= (p.Val1251=) c.3395T= (p.Val1132=) | |
2 | g.166228758A>C | CA349063445 | SCN1A-AS1,SCN9A | c.4139T>G (p.Val1380Gly) c.3983T>G (p.Val1328Gly) c.4106T>G (p.Val1369Gly) n.612-19437A>C c.3752T>G (p.Val1251Gly) c.3395T>G (p.Val1132Gly) | |
2 | g.166228758A>G | CA1943945 | SCN1A-AS1,SCN9A | c.4139T>C (p.Val1380Ala) c.3983T>C (p.Val1328Ala) c.4106T>C (p.Val1369Ala) n.612-19437A>G c.3752T>C (p.Val1251Ala) c.3395T>C (p.Val1132Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228758A>T | CA349063444 | SCN1A-AS1,SCN9A | c.4139T>A (p.Val1380Glu) c.3983T>A (p.Val1328Glu) c.4106T>A (p.Val1369Glu) n.612-19437A>T c.3752T>A (p.Val1251Glu) c.3395T>A (p.Val1132Glu) | |
2 | g.166228759C>A | CA349063446 | SCN1A-AS1,SCN9A | c.4138G>T (p.Val1380Leu) c.3982G>T (p.Val1328Leu) c.4105G>T (p.Val1369Leu) n.612-19436C>A c.3751G>T (p.Val1251Leu) c.3394G>T (p.Val1132Leu) | COSMIC COSMIC |
2 | g.166228759C>G | CA349063447 | SCN1A-AS1,SCN9A | c.4138G>C (p.Val1380Leu) c.3982G>C (p.Val1328Leu) c.4105G>C (p.Val1369Leu) n.612-19436C>G c.3751G>C (p.Val1251Leu) c.3394G>C (p.Val1132Leu) | |
2 | g.166228759C>T | CA349063448 | SCN1A-AS1,SCN9A | c.4138G>A (p.Val1380Met) c.3982G>A (p.Val1328Met) c.4105G>A (p.Val1369Met) n.612-19436C>T c.3751G>A (p.Val1251Met) c.3394G>A (p.Val1132Met) | |
2 | g.166228760A>C | CA349063449 | SCN1A-AS1,SCN9A | c.4137T>G (p.Asn1379Lys) c.3981T>G (p.Asn1327Lys) c.4104T>G (p.Asn1368Lys) n.612-19435A>C c.3750T>G (p.Asn1250Lys) c.3393T>G (p.Asn1131Lys) | |
2 | g.166228760A>G | CA429899133 | SCN1A-AS1,SCN9A | c.4137T>C (p.Asn1379=) c.3981T>C (p.Asn1327=) c.4104T>C (p.Asn1368=) n.612-19435A>G c.3750T>C (p.Asn1250=) c.3393T>C (p.Asn1131=) | |
2 | g.166228760A>T | CA349063450 | SCN1A-AS1,SCN9A | c.4137T>A (p.Asn1379Lys) c.3981T>A (p.Asn1327Lys) c.4104T>A (p.Asn1368Lys) n.612-19435A>T c.3750T>A (p.Asn1250Lys) c.3393T>A (p.Asn1131Lys) | |
2 | g.166228761T>A | CA349063451 | SCN1A-AS1,SCN9A | c.4136A>T (p.Asn1379Ile) c.3980A>T (p.Asn1327Ile) c.4103A>T (p.Asn1368Ile) n.612-19434T>A c.3749A>T (p.Asn1250Ile) c.3392A>T (p.Asn1131Ile) | |
2 | g.166228761T>C | CA349063452 | SCN1A-AS1,SCN9A | c.4136A>G (p.Asn1379Ser) c.3980A>G (p.Asn1327Ser) c.4103A>G (p.Asn1368Ser) n.612-19434T>C c.3749A>G (p.Asn1250Ser) c.3392A>G (p.Asn1131Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228761T>G | CA349063453 | SCN1A-AS1,SCN9A | c.4136A>C (p.Asn1379Thr) c.3980A>C (p.Asn1327Thr) c.4103A>C (p.Asn1368Thr) n.612-19434T>G c.3749A>C (p.Asn1250Thr) c.3392A>C (p.Asn1131Thr) | |
2 | g.166228761T= | CA1304943626 | SCN1A-AS1,SCN9A | c.4136A= (p.Asn1379=) c.3980A= (p.Asn1327=) c.4103A= (p.Asn1368=) n.612-19434T= c.3749A= (p.Asn1250=) c.3392A= (p.Asn1131=) | |
2 | g.166228764del | CA645519728 | SCN1A-AS1,SCN9A | c.4136del (p.Asn1379MetfsTer7) c.3980del (p.Asn1327MetfsTer7) c.4103del (p.Asn1368MetfsTer7) n.612-19431del c.3749del (p.Asn1250MetfsTer7) c.3392del (p.Asn1131MetfsTer7) | COSMIC COSMIC |
2 | g.166228762T>A | CA349063454 | SCN1A-AS1,SCN9A | c.4135A>T (p.Asn1379Tyr) c.3979A>T (p.Asn1327Tyr) c.4102A>T (p.Asn1368Tyr) n.612-19433T>A c.3748A>T (p.Asn1250Tyr) c.3391A>T (p.Asn1131Tyr) | |
2 | g.166228762T>C | CA349063455 | SCN1A-AS1,SCN9A | c.4135A>G (p.Asn1379Asp) c.3979A>G (p.Asn1327Asp) c.4102A>G (p.Asn1368Asp) n.612-19433T>C c.3748A>G (p.Asn1250Asp) c.3391A>G (p.Asn1131Asp) | |
2 | g.166228762T>G | CA349063457 | SCN1A-AS1,SCN9A | c.4135A>C (p.Asn1379His) c.3979A>C (p.Asn1327His) c.4102A>C (p.Asn1368His) n.612-19433T>G c.3748A>C (p.Asn1250His) c.3391A>C (p.Asn1131His) | gnomAD v4 |
2 | g.166228763T>A | CA349063459 | SCN1A-AS1,SCN9A | c.4134A>T (p.Gln1378His) c.3978A>T (p.Gln1326His) c.4101A>T (p.Gln1367His) n.612-19432T>A c.3747A>T (p.Gln1249His) c.3390A>T (p.Gln1130His) | |
2 | g.166228763T>C | CA429899134 | SCN1A-AS1,SCN9A | c.4134A>G (p.Gln1378=) c.3978A>G (p.Gln1326=) c.4101A>G (p.Gln1367=) n.612-19432T>C c.3747A>G (p.Gln1249=) c.3390A>G (p.Gln1130=) | |
2 | g.166228763T>G | CA349063460 | SCN1A-AS1,SCN9A | c.4134A>C (p.Gln1378His) c.3978A>C (p.Gln1326His) c.4101A>C (p.Gln1367His) n.612-19432T>G c.3747A>C (p.Gln1249His) c.3390A>C (p.Gln1130His) | |
2 | g.166228764T>A | CA349063461 | SCN1A-AS1,SCN9A | c.4133A>T (p.Gln1378Leu) c.3977A>T (p.Gln1326Leu) c.4100A>T (p.Gln1367Leu) n.612-19431T>A c.3746A>T (p.Gln1249Leu) c.3389A>T (p.Gln1130Leu) | |
2 | g.166228764T>C | CA349063462 | SCN1A-AS1,SCN9A | c.4133A>G (p.Gln1378Arg) c.3977A>G (p.Gln1326Arg) c.4100A>G (p.Gln1367Arg) n.612-19431T>C c.3746A>G (p.Gln1249Arg) c.3389A>G (p.Gln1130Arg) | |
2 | g.166228764T>G | CA349063463 | SCN1A-AS1,SCN9A | c.4133A>C (p.Gln1378Pro) c.3977A>C (p.Gln1326Pro) c.4100A>C (p.Gln1367Pro) n.612-19431T>G c.3746A>C (p.Gln1249Pro) c.3389A>C (p.Gln1130Pro) | |
2 | g.166228765G>A | CA349063464 | SCN1A-AS1,SCN9A | c.4132C>T (p.Gln1378Ter) c.3976C>T (p.Gln1326Ter) c.4099C>T (p.Gln1367Ter) n.612-19430G>A c.3745C>T (p.Gln1249Ter) c.3388C>T (p.Gln1130Ter) | dbSNP |
2 | g.166228765G>C | CA349063465 | SCN1A-AS1,SCN9A | c.4132C>G (p.Gln1378Glu) c.3976C>G (p.Gln1326Glu) c.4099C>G (p.Gln1367Glu) n.612-19430G>C c.3745C>G (p.Gln1249Glu) c.3388C>G (p.Gln1130Glu) | |
2 | g.166228765G= | CA1304943627 | SCN1A-AS1,SCN9A | c.4132C= (p.Gln1378=) c.3976C= (p.Gln1326=) c.4099C= (p.Gln1367=) n.612-19430G= c.3745C= (p.Gln1249=) c.3388C= (p.Gln1130=) | |
2 | g.166228765G>T | CA349063466 | SCN1A-AS1,SCN9A | c.4132C>A (p.Gln1378Lys) c.3976C>A (p.Gln1326Lys) c.4099C>A (p.Gln1367Lys) n.612-19430G>T c.3745C>A (p.Gln1249Lys) c.3388C>A (p.Gln1130Lys) | |
2 | g.166228766A>C | CA349063469 | SCN1A-AS1,SCN9A | c.4131T>G (p.Ser1377Arg) c.3975T>G (p.Ser1325Arg) c.4098T>G (p.Ser1366Arg) n.612-19429A>C c.3744T>G (p.Ser1248Arg) c.3387T>G (p.Ser1129Arg) | |
2 | g.166228766A>G | CA429899137 | SCN1A-AS1,SCN9A | c.4131T>C (p.Ser1377=) c.3975T>C (p.Ser1325=) c.4098T>C (p.Ser1366=) n.612-19429A>G c.3744T>C (p.Ser1248=) c.3387T>C (p.Ser1129=) | |
2 | g.166228766A>T | CA349063467 | SCN1A-AS1,SCN9A | c.4131T>A (p.Ser1377Arg) c.3975T>A (p.Ser1325Arg) c.4098T>A (p.Ser1366Arg) n.612-19429A>T c.3744T>A (p.Ser1248Arg) c.3387T>A (p.Ser1129Arg) | |
2 | g.166228767C>A | CA349063470 | SCN1A-AS1,SCN9A | c.4130G>T (p.Ser1377Ile) c.3974G>T (p.Ser1325Ile) c.4097G>T (p.Ser1366Ile) n.612-19428C>A c.3743G>T (p.Ser1248Ile) c.3386G>T (p.Ser1129Ile) | |
2 | g.166228767C= | CA1304943628 | SCN1A-AS1,SCN9A | c.4130G= (p.Ser1377=) c.3974G= (p.Ser1325=) c.4097G= (p.Ser1366=) n.612-19428C= c.3743G= (p.Ser1248=) c.3386G= (p.Ser1129=) | |
2 | g.166228767C>G | CA349063471 | SCN1A-AS1,SCN9A | c.4130G>C (p.Ser1377Thr) c.3974G>C (p.Ser1325Thr) c.4097G>C (p.Ser1366Thr) n.612-19428C>G c.3743G>C (p.Ser1248Thr) c.3386G>C (p.Ser1129Thr) | |
2 | g.166228767C>T | CA349063473 | SCN1A-AS1,SCN9A | c.4130G>A (p.Ser1377Asn) c.3974G>A (p.Ser1325Asn) c.4097G>A (p.Ser1366Asn) n.612-19428C>T c.3743G>A (p.Ser1248Asn) c.3386G>A (p.Ser1129Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228768T>A | CA349063475 | SCN1A-AS1,SCN9A | c.4129A>T (p.Ser1377Cys) c.3973A>T (p.Ser1325Cys) c.4096A>T (p.Ser1366Cys) n.612-19427T>A c.3742A>T (p.Ser1248Cys) c.3385A>T (p.Ser1129Cys) | |
2 | g.166228768T>C | CA349063476 | SCN1A-AS1,SCN9A | c.4129A>G (p.Ser1377Gly) c.3973A>G (p.Ser1325Gly) c.4096A>G (p.Ser1366Gly) n.612-19427T>C c.3742A>G (p.Ser1248Gly) c.3385A>G (p.Ser1129Gly) | |
2 | g.166228768T>G | CA349063477 | SCN1A-AS1,SCN9A | c.4129A>C (p.Ser1377Arg) c.3973A>C (p.Ser1325Arg) c.4096A>C (p.Ser1366Arg) n.612-19427T>G c.3742A>C (p.Ser1248Arg) c.3385A>C (p.Ser1129Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228768T= | CA1304943629 | SCN1A-AS1,SCN9A | c.4129A= (p.Ser1377=) c.3973A= (p.Ser1325=) c.4096A= (p.Ser1366=) n.612-19427T= c.3742A= (p.Ser1248=) c.3385A= (p.Ser1129=) | |
2 | g.166228769A= | CA1304943630 | SCN1A-AS1,SCN9A | c.4128T= (p.Val1376=) c.3972T= (p.Val1324=) c.4095T= (p.Val1365=) n.612-19426A= c.3741T= (p.Val1247=) c.3384T= (p.Val1128=) | |
2 | g.166228769A>C | CA429899140 | SCN1A-AS1,SCN9A | c.4128T>G (p.Val1376=) c.3972T>G (p.Val1324=) c.4095T>G (p.Val1365=) n.612-19426A>C c.3741T>G (p.Val1247=) c.3384T>G (p.Val1128=) | gnomAD v4 |
2 | g.166228769A>G | CA429899141 | SCN1A-AS1,SCN9A | c.4128T>C (p.Val1376=) c.3972T>C (p.Val1324=) c.4095T>C (p.Val1365=) n.612-19426A>G c.3741T>C (p.Val1247=) c.3384T>C (p.Val1128=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228769A>T | CA429899142 | SCN1A-AS1,SCN9A | c.4128T>A (p.Val1376=) c.3972T>A (p.Val1324=) c.4095T>A (p.Val1365=) n.612-19426A>T c.3741T>A (p.Val1247=) c.3384T>A (p.Val1128=) | |
2 | g.166228776_166228792del | CA2661765422 | SCN1A-AS1,SCN9A | c.4112_4128del (p.Phe1371Ter) c.3956_3972del (p.Phe1319Ter) c.4079_4095del (p.Phe1360Ter) n.612-19419_612-19403del c.3725_3741del (p.Phe1242Ter) c.3368_3384del (p.Phe1123Ter) | gnomAD v4 |
2 | g.166228770A>C | CA349063478 | SCN1A-AS1,SCN9A | c.4127T>G (p.Val1376Gly) c.3971T>G (p.Val1324Gly) c.4094T>G (p.Val1365Gly) n.612-19425A>C c.3740T>G (p.Val1247Gly) c.3383T>G (p.Val1128Gly) | |
2 | g.166228770A>G | CA349063481 | SCN1A-AS1,SCN9A | c.4127T>C (p.Val1376Ala) c.3971T>C (p.Val1324Ala) c.4094T>C (p.Val1365Ala) n.612-19425A>G c.3740T>C (p.Val1247Ala) c.3383T>C (p.Val1128Ala) | COSMIC COSMIC |
2 | g.166228770A>T | CA349063480 | SCN1A-AS1,SCN9A | c.4127T>A (p.Val1376Asp) c.3971T>A (p.Val1324Asp) c.4094T>A (p.Val1365Asp) n.612-19425A>T c.3740T>A (p.Val1247Asp) c.3383T>A (p.Val1128Asp) | |
2 | g.166228771C>A | CA349063482 | SCN1A-AS1,SCN9A | c.4126G>T (p.Val1376Phe) c.3970G>T (p.Val1324Phe) c.4093G>T (p.Val1365Phe) n.612-19424C>A c.3739G>T (p.Val1247Phe) c.3382G>T (p.Val1128Phe) | |
2 | g.166228771C= | CA1304943631 | SCN1A-AS1,SCN9A | c.4126G= (p.Val1376=) c.3970G= (p.Val1324=) c.4093G= (p.Val1365=) n.612-19424C= c.3739G= (p.Val1247=) c.3382G= (p.Val1128=) | |
2 | g.166228771C>G | CA349063483 | SCN1A-AS1,SCN9A | c.4126G>C (p.Val1376Leu) c.3970G>C (p.Val1324Leu) c.4093G>C (p.Val1365Leu) n.612-19424C>G c.3739G>C (p.Val1247Leu) c.3382G>C (p.Val1128Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228771C>T | CA349063484 | SCN1A-AS1,SCN9A | c.4126G>A (p.Val1376Ile) c.3970G>A (p.Val1324Ile) c.4093G>A (p.Val1365Ile) n.612-19424C>T c.3739G>A (p.Val1247Ile) c.3382G>A (p.Val1128Ile) | ClinVar |
2 | g.166228772A>C | CA349063486 | SCN1A-AS1,SCN9A | c.4125T>G (p.Asn1375Lys) c.3969T>G (p.Asn1323Lys) c.4092T>G (p.Asn1364Lys) n.612-19423A>C c.3738T>G (p.Asn1246Lys) c.3381T>G (p.Asn1127Lys) | |
2 | g.166228772A>G | CA429899147 | SCN1A-AS1,SCN9A | c.4125T>C (p.Asn1375=) c.3969T>C (p.Asn1323=) c.4092T>C (p.Asn1364=) n.612-19423A>G c.3738T>C (p.Asn1246=) c.3381T>C (p.Asn1127=) | |
2 | g.166228772A>T | CA349063488 | SCN1A-AS1,SCN9A | c.4125T>A (p.Asn1375Lys) c.3969T>A (p.Asn1323Lys) c.4092T>A (p.Asn1364Lys) n.612-19423A>T c.3738T>A (p.Asn1246Lys) c.3381T>A (p.Asn1127Lys) | |
2 | g.166228773T>A | CA349063490 | SCN1A-AS1,SCN9A | c.4124A>T (p.Asn1375Ile) c.3968A>T (p.Asn1323Ile) c.4091A>T (p.Asn1364Ile) n.612-19422T>A c.3737A>T (p.Asn1246Ile) c.3380A>T (p.Asn1127Ile) | |
2 | g.166228773T>C | CA1943946 | SCN1A-AS1,SCN9A | c.4124A>G (p.Asn1375Ser) c.3968A>G (p.Asn1323Ser) c.4091A>G (p.Asn1364Ser) n.612-19422T>C c.3737A>G (p.Asn1246Ser) c.3380A>G (p.Asn1127Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228773T>G | CA349063491 | SCN1A-AS1,SCN9A | c.4124A>C (p.Asn1375Thr) c.3968A>C (p.Asn1323Thr) c.4091A>C (p.Asn1364Thr) n.612-19422T>G c.3737A>C (p.Asn1246Thr) c.3380A>C (p.Asn1127Thr) | |
2 | g.166228773T= | CA1304943632 | SCN1A-AS1,SCN9A | c.4124A= (p.Asn1375=) c.3968A= (p.Asn1323=) c.4091A= (p.Asn1364=) n.612-19422T= c.3737A= (p.Asn1246=) c.3380A= (p.Asn1127=) | |
2 | g.166228774T>A | CA349063494 | SCN1A-AS1,SCN9A | c.4123A>T (p.Asn1375Tyr) c.3967A>T (p.Asn1323Tyr) c.4090A>T (p.Asn1364Tyr) n.612-19421T>A c.3736A>T (p.Asn1246Tyr) c.3379A>T (p.Asn1127Tyr) | |
2 | g.166228774T>C | CA349063496 | SCN1A-AS1,SCN9A | c.4123A>G (p.Asn1375Asp) c.3967A>G (p.Asn1323Asp) c.4090A>G (p.Asn1364Asp) n.612-19421T>C c.3736A>G (p.Asn1246Asp) c.3379A>G (p.Asn1127Asp) | |
2 | g.166228774T>G | CA349063497 | SCN1A-AS1,SCN9A | c.4123A>C (p.Asn1375His) c.3967A>C (p.Asn1323His) c.4090A>C (p.Asn1364His) n.612-19421T>G c.3736A>C (p.Asn1246His) c.3379A>C (p.Asn1127His) | |
2 | g.166228775C>A | CA349063502 | SCN1A-AS1,SCN9A | c.4122G>T (p.Met1374Ile) c.3966G>T (p.Met1322Ile) c.4089G>T (p.Met1363Ile) n.612-19420C>A c.3735G>T (p.Met1245Ile) c.3378G>T (p.Met1126Ile) | gnomAD v4 |
2 | g.166228775C= | CA1304943633 | SCN1A-AS1,SCN9A | c.4122G= (p.Met1374=) c.3966G= (p.Met1322=) c.4089G= (p.Met1363=) n.612-19420C= c.3735G= (p.Met1245=) c.3378G= (p.Met1126=) | |
2 | g.166228775C>G | CA349063500 | SCN1A-AS1,SCN9A | c.4122G>C (p.Met1374Ile) c.3966G>C (p.Met1322Ile) c.4089G>C (p.Met1363Ile) n.612-19420C>G c.3735G>C (p.Met1245Ile) c.3378G>C (p.Met1126Ile) | |
2 | g.166228775C>T | CA1943947 | SCN1A-AS1,SCN9A | c.4122G>A (p.Met1374Ile) c.3966G>A (p.Met1322Ile) c.4089G>A (p.Met1363Ile) n.612-19420C>T c.3735G>A (p.Met1245Ile) c.3378G>A (p.Met1126Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228776A>C | CA349063505 | SCN1A-AS1,SCN9A | c.4121T>G (p.Met1374Arg) c.3965T>G (p.Met1322Arg) c.4088T>G (p.Met1363Arg) n.612-19419A>C c.3734T>G (p.Met1245Arg) c.3377T>G (p.Met1126Arg) | |
2 | g.166228776A>G | CA349063504 | SCN1A-AS1,SCN9A | c.4121T>C (p.Met1374Thr) c.3965T>C (p.Met1322Thr) c.4088T>C (p.Met1363Thr) n.612-19419A>G c.3734T>C (p.Met1245Thr) c.3377T>C (p.Met1126Thr) | ClinVar gnomAD v4 |
2 | g.166228776A>T | CA349063506 | SCN1A-AS1,SCN9A | c.4121T>A (p.Met1374Lys) c.3965T>A (p.Met1322Lys) c.4088T>A (p.Met1363Lys) n.612-19419A>T c.3734T>A (p.Met1245Lys) c.3377T>A (p.Met1126Lys) | |
2 | g.166228777T>A | CA59810264 | SCN1A-AS1,SCN9A | c.4120A>T (p.Met1374Leu) c.3964A>T (p.Met1322Leu) c.4087A>T (p.Met1363Leu) n.612-19418T>A c.3733A>T (p.Met1245Leu) c.3376A>T (p.Met1126Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228777T>C | CA349063509 | SCN1A-AS1,SCN9A | c.4120A>G (p.Met1374Val) c.3964A>G (p.Met1322Val) c.4087A>G (p.Met1363Val) n.612-19418T>C c.3733A>G (p.Met1245Val) c.3376A>G (p.Met1126Val) | |
2 | g.166228777T>G | CA349063508 | SCN1A-AS1,SCN9A | c.4120A>C (p.Met1374Leu) c.3964A>C (p.Met1322Leu) c.4087A>C (p.Met1363Leu) n.612-19418T>G c.3733A>C (p.Met1245Leu) c.3376A>C (p.Met1126Leu) | ClinVar dbSNP |
2 | g.166228777T= | CA1304943634 | SCN1A-AS1,SCN9A | c.4120A= (p.Met1374=) c.3964A= (p.Met1322=) c.4087A= (p.Met1363=) n.612-19418T= c.3733A= (p.Met1245=) c.3376A= (p.Met1126=) | |
2 | g.166228778A>C | CA429899155 | SCN1A-AS1,SCN9A | c.4119T>G (p.Leu1373=) c.3963T>G (p.Leu1321=) c.4086T>G (p.Leu1362=) n.612-19417A>C c.3732T>G (p.Leu1244=) c.3375T>G (p.Leu1125=) | |
2 | g.166228778A>G | CA429899156 | SCN1A-AS1,SCN9A | c.4119T>C (p.Leu1373=) c.3963T>C (p.Leu1321=) c.4086T>C (p.Leu1362=) n.612-19417A>G c.3732T>C (p.Leu1244=) c.3375T>C (p.Leu1125=) | |
2 | g.166228778A>T | CA429899157 | SCN1A-AS1,SCN9A | c.4119T>A (p.Leu1373=) c.3963T>A (p.Leu1321=) c.4086T>A (p.Leu1362=) n.612-19417A>T c.3732T>A (p.Leu1244=) c.3375T>A (p.Leu1125=) | |
2 | g.166228779A>C | CA349063512 | SCN1A-AS1,SCN9A | c.4118T>G (p.Leu1373Arg) c.3962T>G (p.Leu1321Arg) c.4085T>G (p.Leu1362Arg) n.612-19416A>C c.3731T>G (p.Leu1244Arg) c.3374T>G (p.Leu1125Arg) | |
2 | g.166228779A>G | CA349063513 | SCN1A-AS1,SCN9A | c.4118T>C (p.Leu1373Pro) c.3962T>C (p.Leu1321Pro) c.4085T>C (p.Leu1362Pro) n.612-19416A>G c.3731T>C (p.Leu1244Pro) c.3374T>C (p.Leu1125Pro) | |
2 | g.166228779A>T | CA349063515 | SCN1A-AS1,SCN9A | c.4118T>A (p.Leu1373His) c.3962T>A (p.Leu1321His) c.4085T>A (p.Leu1362His) n.612-19416A>T c.3731T>A (p.Leu1244His) c.3374T>A (p.Leu1125His) | |
2 | g.166228780G>A | CA1943948 | SCN1A-AS1,SCN9A | c.4117C>T (p.Leu1373Phe) c.3961C>T (p.Leu1321Phe) c.4084C>T (p.Leu1362Phe) n.612-19415G>A c.3730C>T (p.Leu1244Phe) c.3373C>T (p.Leu1125Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228780G>C | CA349063518 | SCN1A-AS1,SCN9A | c.4117C>G (p.Leu1373Val) c.3961C>G (p.Leu1321Val) c.4084C>G (p.Leu1362Val) n.612-19415G>C c.3730C>G (p.Leu1244Val) c.3373C>G (p.Leu1125Val) | |
2 | g.166228780G= | CA1304943635 | SCN1A-AS1,SCN9A | c.4117C= (p.Leu1373=) c.3961C= (p.Leu1321=) c.4084C= (p.Leu1362=) n.612-19415G= c.3730C= (p.Leu1244=) c.3373C= (p.Leu1125=) | |
2 | g.166228780G>T | CA349063520 | SCN1A-AS1,SCN9A | c.4117C>A (p.Leu1373Ile) c.3961C>A (p.Leu1321Ile) c.4084C>A (p.Leu1362Ile) n.612-19415G>T c.3730C>A (p.Leu1244Ile) c.3373C>A (p.Leu1125Ile) | |
2 | g.166228781G>A | CA429899164 | SCN1A-AS1,SCN9A | c.4116C>T (p.Ala1372=) c.3960C>T (p.Ala1320=) c.4083C>T (p.Ala1361=) n.612-19414G>A c.3729C>T (p.Ala1243=) c.3372C>T (p.Ala1124=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228781G>C | CA429899166 | SCN1A-AS1,SCN9A | c.4116C>G (p.Ala1372=) c.3960C>G (p.Ala1320=) c.4083C>G (p.Ala1361=) n.612-19414G>C c.3729C>G (p.Ala1243=) c.3372C>G (p.Ala1124=) | gnomAD v4 |
2 | g.166228781G= | CA1304943636 | SCN1A-AS1,SCN9A | c.4116C= (p.Ala1372=) c.3960C= (p.Ala1320=) c.4083C= (p.Ala1361=) n.612-19414G= c.3729C= (p.Ala1243=) c.3372C= (p.Ala1124=) | |
2 | g.166228781G>T | CA429899167 | SCN1A-AS1,SCN9A | c.4116C>A (p.Ala1372=) c.3960C>A (p.Ala1320=) c.4083C>A (p.Ala1361=) n.612-19414G>T c.3729C>A (p.Ala1243=) c.3372C>A (p.Ala1124=) |