Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166238153_166238163del | CA2586970374 | SCN1A-AS1,SCN9A | c.3736_3746del (p.Ile1246LeufsTer2) c.3703_3713del (p.Ile1235LeufsTer2) n.612-10042_612-10032del c.3349_3359del (p.Ile1117LeufsTer2) c.2992_3002del (p.Ile998LeufsTer2) | gnomAD v4 |
2 | g.166238152T>A | CA349068585 | SCN1A-AS1,SCN9A | c.3743A>T (p.Tyr1248Phe) c.3710A>T (p.Tyr1237Phe) n.612-10043T>A c.3356A>T (p.Tyr1119Phe) c.2999A>T (p.Tyr1000Phe) | |
2 | g.166238152T>C | CA349068588 | SCN1A-AS1,SCN9A | c.3743A>G (p.Tyr1248Cys) c.3710A>G (p.Tyr1237Cys) n.612-10043T>C c.3356A>G (p.Tyr1119Cys) c.2999A>G (p.Tyr1000Cys) | gnomAD v4 |
2 | g.166238152T>G | CA349068589 | SCN1A-AS1,SCN9A | c.3743A>C (p.Tyr1248Ser) c.3710A>C (p.Tyr1237Ser) n.612-10043T>G c.3356A>C (p.Tyr1119Ser) c.2999A>C (p.Tyr1000Ser) | |
2 | g.166238153A= | CA1304949967 | SCN1A-AS1,SCN9A | c.3742T= (p.Tyr1248=) c.3709T= (p.Tyr1237=) n.612-10042A= c.3355T= (p.Tyr1119=) c.2998T= (p.Tyr1000=) | |
2 | g.166238153A>C | CA349068591 | SCN1A-AS1,SCN9A | c.3742T>G (p.Tyr1248Asp) c.3709T>G (p.Tyr1237Asp) n.612-10042A>C c.3355T>G (p.Tyr1119Asp) c.2998T>G (p.Tyr1000Asp) | |
2 | g.166238153A>G | CA349068593 | SCN1A-AS1,SCN9A | c.3742T>C (p.Tyr1248His) c.3709T>C (p.Tyr1237His) n.612-10042A>G c.3355T>C (p.Tyr1119His) c.2998T>C (p.Tyr1000His) | dbSNP |
2 | g.166238153A>T | CA349068595 | SCN1A-AS1,SCN9A | c.3742T>A (p.Tyr1248Asn) c.3709T>A (p.Tyr1237Asn) n.612-10042A>T c.3355T>A (p.Tyr1119Asn) c.2998T>A (p.Tyr1000Asn) | |
2 | g.166238154T>A | CA429900720 | SCN1A-AS1,SCN9A | c.3741A>T (p.Ala1247=) c.3708A>T (p.Ala1236=) n.612-10041T>A c.3354A>T (p.Ala1118=) c.2997A>T (p.Ala999=) | ClinVar dbSNP |
2 | g.166238154T>C | CA429900721 | SCN1A-AS1,SCN9A | c.3741A>G (p.Ala1247=) c.3708A>G (p.Ala1236=) n.612-10041T>C c.3354A>G (p.Ala1118=) c.2997A>G (p.Ala999=) | |
2 | g.166238154T>G | CA429900722 | SCN1A-AS1,SCN9A | c.3741A>C (p.Ala1247=) c.3708A>C (p.Ala1236=) n.612-10041T>G c.3354A>C (p.Ala1118=) c.2997A>C (p.Ala999=) | |
2 | g.166238155G>A | CA349068596 | SCN1A-AS1,SCN9A | c.3740C>T (p.Ala1247Val) c.3707C>T (p.Ala1236Val) n.612-10040G>A c.3353C>T (p.Ala1118Val) c.2996C>T (p.Ala999Val) | |
2 | g.166238155G>C | CA349068598 | SCN1A-AS1,SCN9A | c.3740C>G (p.Ala1247Gly) c.3707C>G (p.Ala1236Gly) n.612-10040G>C c.3353C>G (p.Ala1118Gly) c.2996C>G (p.Ala999Gly) | |
2 | g.166238155G= | CA1304949968 | SCN1A-AS1,SCN9A | c.3740C= (p.Ala1247=) c.3707C= (p.Ala1236=) n.612-10040G= c.3353C= (p.Ala1118=) c.2996C= (p.Ala999=) | |
2 | g.166238155G>T | CA349068600 | SCN1A-AS1,SCN9A | c.3740C>A (p.Ala1247Glu) c.3707C>A (p.Ala1236Glu) n.612-10040G>T c.3353C>A (p.Ala1118Glu) c.2996C>A (p.Ala999Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166238156C>A | CA349068603 | SCN1A-AS1,SCN9A | c.3739G>T (p.Ala1247Ser) c.3706G>T (p.Ala1236Ser) n.612-10039C>A c.3352G>T (p.Ala1118Ser) c.2995G>T (p.Ala999Ser) | COSMIC COSMIC |
2 | g.166238156C>G | CA349068604 | SCN1A-AS1,SCN9A | c.3739G>C (p.Ala1247Pro) c.3706G>C (p.Ala1236Pro) n.612-10039C>G c.3352G>C (p.Ala1118Pro) c.2995G>C (p.Ala999Pro) | |
2 | g.166238156C>T | CA349068602 | SCN1A-AS1,SCN9A | c.3739G>A (p.Ala1247Thr) c.3706G>A (p.Ala1236Thr) n.612-10039C>T c.3352G>A (p.Ala1118Thr) c.2995G>A (p.Ala999Thr) | |
2 | g.166238157_166238160dup | CA2740095795 | SCN1A-AS1,SCN9A | c.3736_3739dup (p.Ala1247AspfsTer6) c.3703_3706dup (p.Ala1236AspfsTer6) n.612-10038_612-10035dup c.3349_3352dup (p.Ala1118AspfsTer6) c.2992_2995dup (p.Ala999AspfsTer6) | ClinVar |
2 | g.166238157T>A | CA429900723 | SCN1A-AS1,SCN9A | c.3738A>T (p.Ile1246=) c.3705A>T (p.Ile1235=) n.612-10038T>A c.3351A>T (p.Ile1117=) c.2994A>T (p.Ile998=) | |
2 | g.166238157T>C | CA349068607 | SCN1A-AS1,SCN9A | c.3738A>G (p.Ile1246Met) c.3705A>G (p.Ile1235Met) n.612-10038T>C c.3351A>G (p.Ile1117Met) c.2994A>G (p.Ile998Met) | |
2 | g.166238157T>G | CA429900724 | SCN1A-AS1,SCN9A | c.3738A>C (p.Ile1246=) c.3705A>C (p.Ile1235=) n.612-10038T>G c.3351A>C (p.Ile1117=) c.2994A>C (p.Ile998=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166238157T= | CA1304949969 | SCN1A-AS1,SCN9A | c.3738A= (p.Ile1246=) c.3705A= (p.Ile1235=) n.612-10038T= c.3351A= (p.Ile1117=) c.2994A= (p.Ile998=) | |
2 | g.166238158A= | CA1304949970 | SCN1A-AS1,SCN9A | c.3737T= (p.Ile1246=) c.3704T= (p.Ile1235=) n.612-10037A= c.3350T= (p.Ile1117=) c.2993T= (p.Ile998=) | |
2 | g.166238158A>C | CA349068608 | SCN1A-AS1,SCN9A | c.3737T>G (p.Ile1246Arg) c.3704T>G (p.Ile1235Arg) n.612-10037A>C c.3350T>G (p.Ile1117Arg) c.2993T>G (p.Ile998Arg) | ClinVar dbSNP |
2 | g.166238158A>G | CA349068610 | SCN1A-AS1,SCN9A | c.3737T>C (p.Ile1246Thr) c.3704T>C (p.Ile1235Thr) n.612-10037A>G c.3350T>C (p.Ile1117Thr) c.2993T>C (p.Ile998Thr) | gnomAD v4 |
2 | g.166238158A>T | CA349068609 | SCN1A-AS1,SCN9A | c.3737T>A (p.Ile1246Lys) c.3704T>A (p.Ile1235Lys) n.612-10037A>T c.3350T>A (p.Ile1117Lys) c.2993T>A (p.Ile998Lys) | dbSNP COSMIC COSMIC |
2 | g.166238159T>A | CA349068612 | SCN1A-AS1,SCN9A | c.3736A>T (p.Ile1246Leu) c.3703A>T (p.Ile1235Leu) n.612-10036T>A c.3349A>T (p.Ile1117Leu) c.2992A>T (p.Ile998Leu) | |
2 | g.166238159T>C | CA349068615 | SCN1A-AS1,SCN9A | c.3736A>G (p.Ile1246Val) c.3703A>G (p.Ile1235Val) n.612-10036T>C c.3349A>G (p.Ile1117Val) c.2992A>G (p.Ile998Val) | |
2 | g.166238159T>G | CA349068614 | SCN1A-AS1,SCN9A | c.3736A>C (p.Ile1246Leu) c.3703A>C (p.Ile1235Leu) n.612-10036T>G c.3349A>C (p.Ile1117Leu) c.2992A>C (p.Ile998Leu) | |
2 | g.166238160C>A | CA349068616 | SCN1A-AS1,SCN9A | c.3735G>T (p.Trp1245Cys) c.3702G>T (p.Trp1234Cys) n.612-10035C>A c.3348G>T (p.Trp1116Cys) c.2991G>T (p.Trp997Cys) | |
2 | g.166238160C= | CA1304949971 | SCN1A-AS1,SCN9A | c.3735G= (p.Trp1245=) c.3702G= (p.Trp1234=) n.612-10035C= c.3348G= (p.Trp1116=) c.2991G= (p.Trp997=) | |
2 | g.166238160C>G | CA349068618 | SCN1A-AS1,SCN9A | c.3735G>C (p.Trp1245Cys) c.3702G>C (p.Trp1234Cys) n.612-10035C>G c.3348G>C (p.Trp1116Cys) c.2991G>C (p.Trp997Cys) | |
2 | g.166238160C>T | CA349068619 | SCN1A-AS1,SCN9A | c.3735G>A (p.Trp1245Ter) c.3702G>A (p.Trp1234Ter) n.612-10035C>T c.3348G>A (p.Trp1116Ter) c.2991G>A (p.Trp997Ter) | dbSNP COSMIC COSMIC |
2 | g.166238161C>A | CA349068622 | SCN1A-AS1,SCN9A | c.3734G>T (p.Trp1245Leu) c.3701G>T (p.Trp1234Leu) n.612-10034C>A c.3347G>T (p.Trp1116Leu) c.2990G>T (p.Trp997Leu) | |
2 | g.166238161C>G | CA349068623 | SCN1A-AS1,SCN9A | c.3734G>C (p.Trp1245Ser) c.3701G>C (p.Trp1234Ser) n.612-10034C>G c.3347G>C (p.Trp1116Ser) c.2990G>C (p.Trp997Ser) | |
2 | g.166238161C>T | CA349068624 | SCN1A-AS1,SCN9A | c.3734G>A (p.Trp1245Ter) c.3701G>A (p.Trp1234Ter) n.612-10034C>T c.3347G>A (p.Trp1116Ter) c.2990G>A (p.Trp997Ter) | gnomAD v4 COSMIC COSMIC |
2 | g.166238162A>C | CA349068630 | SCN1A-AS1,SCN9A | c.3733T>G (p.Trp1245Gly) c.3700T>G (p.Trp1234Gly) n.612-10033A>C c.3346T>G (p.Trp1116Gly) c.2989T>G (p.Trp997Gly) | |
2 | g.166238162A>G | CA349068627 | SCN1A-AS1,SCN9A | c.3733T>C (p.Trp1245Arg) c.3700T>C (p.Trp1234Arg) n.612-10033A>G c.3346T>C (p.Trp1116Arg) c.2989T>C (p.Trp997Arg) | |
2 | g.166238162A>T | CA349068628 | SCN1A-AS1,SCN9A | c.3733T>A (p.Trp1245Arg) c.3700T>A (p.Trp1234Arg) n.612-10033A>T c.3346T>A (p.Trp1116Arg) c.2989T>A (p.Trp997Arg) | |
2 | g.166238163T>A | CA349068632 | SCN1A-AS1,SCN9A | c.3732A>T (p.Lys1244Asn) c.3699A>T (p.Lys1233Asn) n.612-10032T>A c.3345A>T (p.Lys1115Asn) c.2988A>T (p.Lys996Asn) | |
2 | g.166238163T>C | CA429900725 | SCN1A-AS1,SCN9A | c.3732A>G (p.Lys1244=) c.3699A>G (p.Lys1233=) n.612-10032T>C c.3345A>G (p.Lys1115=) c.2988A>G (p.Lys996=) | |
2 | g.166238163T>G | CA349068633 | SCN1A-AS1,SCN9A | c.3732A>C (p.Lys1244Asn) c.3699A>C (p.Lys1233Asn) n.612-10032T>G c.3345A>C (p.Lys1115Asn) c.2988A>C (p.Lys996Asn) | |
2 | g.166238164T>A | CA349068635 | SCN1A-AS1,SCN9A | c.3731A>T (p.Lys1244Ile) c.3698A>T (p.Lys1233Ile) n.612-10031T>A c.3344A>T (p.Lys1115Ile) c.2987A>T (p.Lys996Ile) | |
2 | g.166238164T>C | CA349068637 | SCN1A-AS1,SCN9A | c.3731A>G (p.Lys1244Arg) c.3698A>G (p.Lys1233Arg) n.612-10031T>C c.3344A>G (p.Lys1115Arg) c.2987A>G (p.Lys996Arg) | |
2 | g.166238164T>G | CA349068638 | SCN1A-AS1,SCN9A | c.3731A>C (p.Lys1244Thr) c.3698A>C (p.Lys1233Thr) n.612-10031T>G c.3344A>C (p.Lys1115Thr) c.2987A>C (p.Lys996Thr) | |
2 | g.166238165T>A | CA349068641 | SCN1A-AS1,SCN9A | c.3730A>T (p.Lys1244Ter) c.3697A>T (p.Lys1233Ter) n.612-10030T>A c.3343A>T (p.Lys1115Ter) c.2986A>T (p.Lys996Ter) | dbSNP |
2 | g.166238165T>C | CA349068643 | SCN1A-AS1,SCN9A | c.3730A>G (p.Lys1244Glu) c.3697A>G (p.Lys1233Glu) n.612-10030T>C c.3343A>G (p.Lys1115Glu) c.2986A>G (p.Lys996Glu) | |
2 | g.166238165T>G | CA349068642 | SCN1A-AS1,SCN9A | c.3730A>C (p.Lys1244Gln) c.3697A>C (p.Lys1233Gln) n.612-10030T>G c.3343A>C (p.Lys1115Gln) c.2986A>C (p.Lys996Gln) | |
2 | g.166238165T= | CA1304949972 | SCN1A-AS1,SCN9A | c.3730A= (p.Lys1244=) c.3697A= (p.Lys1233=) n.612-10030T= c.3343A= (p.Lys1115=) c.2986A= (p.Lys996=) |