Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166228808T>A | CA349063660 | SCN1A-AS1,SCN9A | c.4089A>T (p.Gln1363His) c.3933A>T (p.Gln1311His) c.4056A>T (p.Gln1352His) n.612-19387T>A c.3702A>T (p.Gln1234His) c.3345A>T (p.Gln1115His) | |
2 | g.166228808T>C | CA59810284 | SCN1A-AS1,SCN9A | c.4089A>G (p.Gln1363=) c.3933A>G (p.Gln1311=) c.4056A>G (p.Gln1352=) n.612-19387T>C c.3702A>G (p.Gln1234=) c.3345A>G (p.Gln1115=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228808T>G | CA349063667 | SCN1A-AS1,SCN9A | c.4089A>C (p.Gln1363His) c.3933A>C (p.Gln1311His) c.4056A>C (p.Gln1352His) n.612-19387T>G c.3702A>C (p.Gln1234His) c.3345A>C (p.Gln1115His) | |
2 | g.166228808T= | CA1304943649 | SCN1A-AS1,SCN9A | c.4089A= (p.Gln1363=) c.3933A= (p.Gln1311=) c.4056A= (p.Gln1352=) n.612-19387T= c.3702A= (p.Gln1234=) c.3345A= (p.Gln1115=) | |
2 | g.166228809T>A | CA349063669 | SCN1A-AS1,SCN9A | c.4088A>T (p.Gln1363Leu) c.3932A>T (p.Gln1311Leu) c.4055A>T (p.Gln1352Leu) n.612-19386T>A c.3701A>T (p.Gln1234Leu) c.3344A>T (p.Gln1115Leu) | |
2 | g.166228809T>C | CA1943952 | SCN1A-AS1,SCN9A | c.4088A>G (p.Gln1363Arg) c.3932A>G (p.Gln1311Arg) c.4055A>G (p.Gln1352Arg) n.612-19386T>C c.3701A>G (p.Gln1234Arg) c.3344A>G (p.Gln1115Arg) | dbSNP ExAC gnomAD v4 |
2 | g.166228809T>G | CA349063673 | SCN1A-AS1,SCN9A | c.4088A>C (p.Gln1363Pro) c.3932A>C (p.Gln1311Pro) c.4055A>C (p.Gln1352Pro) n.612-19386T>G c.3701A>C (p.Gln1234Pro) c.3344A>C (p.Gln1115Pro) | |
2 | g.166228809T= | CA1304943650 | SCN1A-AS1,SCN9A | c.4088A= (p.Gln1363=) c.3932A= (p.Gln1311=) c.4055A= (p.Gln1352=) n.612-19386T= c.3701A= (p.Gln1234=) c.3344A= (p.Gln1115=) | |
2 | g.166228810G>A | CA349063679 | SCN1A-AS1,SCN9A | c.4087C>T (p.Gln1363Ter) c.3931C>T (p.Gln1311Ter) c.4054C>T (p.Gln1352Ter) n.612-19385G>A c.3700C>T (p.Gln1234Ter) c.3343C>T (p.Gln1115Ter) | dbSNP gnomAD v4 |
2 | g.166228810G>C | CA349063682 | SCN1A-AS1,SCN9A | c.4087C>G (p.Gln1363Glu) c.3931C>G (p.Gln1311Glu) c.4054C>G (p.Gln1352Glu) n.612-19385G>C c.3700C>G (p.Gln1234Glu) c.3343C>G (p.Gln1115Glu) | |
2 | g.166228810G= | CA1304943651 | SCN1A-AS1,SCN9A | c.4087C= (p.Gln1363=) c.3931C= (p.Gln1311=) c.4054C= (p.Gln1352=) n.612-19385G= c.3700C= (p.Gln1234=) c.3343C= (p.Gln1115=) | |
2 | g.166228810G>T | CA349063686 | SCN1A-AS1,SCN9A | c.4087C>A (p.Gln1363Lys) c.3931C>A (p.Gln1311Lys) c.4054C>A (p.Gln1352Lys) n.612-19385G>T c.3700C>A (p.Gln1234Lys) c.3343C>A (p.Gln1115Lys) | |
2 | g.166228811A>C | CA349063689 | SCN1A-AS1,SCN9A | c.4086T>G (p.Ser1362Arg) c.3930T>G (p.Ser1310Arg) c.4053T>G (p.Ser1351Arg) n.612-19384A>C c.3699T>G (p.Ser1233Arg) c.3342T>G (p.Ser1114Arg) | |
2 | g.166228811A>G | CA429899206 | SCN1A-AS1,SCN9A | c.4086T>C (p.Ser1362=) c.3930T>C (p.Ser1310=) c.4053T>C (p.Ser1351=) n.612-19384A>G c.3699T>C (p.Ser1233=) c.3342T>C (p.Ser1114=) | |
2 | g.166228811A>T | CA349063692 | SCN1A-AS1,SCN9A | c.4086T>A (p.Ser1362Arg) c.3930T>A (p.Ser1310Arg) c.4053T>A (p.Ser1351Arg) n.612-19384A>T c.3699T>A (p.Ser1233Arg) c.3342T>A (p.Ser1114Arg) | |
2 | g.166228812C>A | CA349063696 | SCN1A-AS1,SCN9A | c.4085G>T (p.Ser1362Ile) c.3929G>T (p.Ser1310Ile) c.4052G>T (p.Ser1351Ile) n.612-19383C>A c.3698G>T (p.Ser1233Ile) c.3341G>T (p.Ser1114Ile) | |
2 | g.166228812C>G | CA349063699 | SCN1A-AS1,SCN9A | c.4085G>C (p.Ser1362Thr) c.3929G>C (p.Ser1310Thr) c.4052G>C (p.Ser1351Thr) n.612-19383C>G c.3698G>C (p.Ser1233Thr) c.3341G>C (p.Ser1114Thr) | |
2 | g.166228812C>T | CA349063702 | SCN1A-AS1,SCN9A | c.4085G>A (p.Ser1362Asn) c.3929G>A (p.Ser1310Asn) c.4052G>A (p.Ser1351Asn) n.612-19383C>T c.3698G>A (p.Ser1233Asn) c.3341G>A (p.Ser1114Asn) | |
2 | g.166228812_166228813delinsCT | CA1304943652 | SCN1A-AS1,SCN9A | c.4084_4085delinsAG (p.Ser1362=) c.3928_3929delinsAG (p.Ser1310=) c.4051_4052delinsAG (p.Ser1351=) n.612-19383_612-19382delinsCT c.3697_3698delinsAG (p.Ser1233=) c.3340_3341delinsAG (p.Ser1114=) | |
2 | g.166228813T>A | CA349063706 | SCN1A-AS1,SCN9A | c.4084A>T (p.Ser1362Cys) c.3928A>T (p.Ser1310Cys) c.4051A>T (p.Ser1351Cys) n.612-19382T>A c.3697A>T (p.Ser1233Cys) c.3340A>T (p.Ser1114Cys) | |
2 | g.166228813T>C | CA1943954 | SCN1A-AS1,SCN9A | c.4084A>G (p.Ser1362Gly) c.3928A>G (p.Ser1310Gly) c.4051A>G (p.Ser1351Gly) n.612-19382T>C c.3697A>G (p.Ser1233Gly) c.3340A>G (p.Ser1114Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228813T>G | CA349063711 | SCN1A-AS1,SCN9A | c.4084A>C (p.Ser1362Arg) c.3928A>C (p.Ser1310Arg) c.4051A>C (p.Ser1351Arg) n.612-19382T>G c.3697A>C (p.Ser1233Arg) c.3340A>C (p.Ser1114Arg) | |
2 | g.166228813T= | CA1304943653 | SCN1A-AS1,SCN9A | c.4084A= (p.Ser1362=) c.3928A= (p.Ser1310=) c.4051A= (p.Ser1351=) n.612-19382T= c.3697A= (p.Ser1233=) c.3340A= (p.Ser1114=) | |
2 | g.166228814del | CA1943953 | SCN1A-AS1,SCN9A | c.4084del (p.Ser1362ValfsTer13) c.3928del (p.Ser1310ValfsTer13) c.4051del (p.Ser1351ValfsTer13) n.612-19381del c.3697del (p.Ser1233ValfsTer13) c.3340del (p.Ser1114ValfsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228814T>A | CA429899208 | SCN1A-AS1,SCN9A | c.4083A>T (p.Ala1361=) c.3927A>T (p.Ala1309=) c.4050A>T (p.Ala1350=) n.612-19381T>A c.3696A>T (p.Ala1232=) c.3339A>T (p.Ala1113=) | |
2 | g.166228814T>C | CA429899210 | SCN1A-AS1,SCN9A | c.4083A>G (p.Ala1361=) c.3927A>G (p.Ala1309=) c.4050A>G (p.Ala1350=) n.612-19381T>C c.3696A>G (p.Ala1232=) c.3339A>G (p.Ala1113=) | |
2 | g.166228814T>G | CA429899212 | SCN1A-AS1,SCN9A | c.4083A>C (p.Ala1361=) c.3927A>C (p.Ala1309=) c.4050A>C (p.Ala1350=) n.612-19381T>G c.3696A>C (p.Ala1232=) c.3339A>C (p.Ala1113=) | |
2 | g.166228815G>A | CA349063715 | SCN1A-AS1,SCN9A | c.4082C>T (p.Ala1361Val) c.3926C>T (p.Ala1309Val) c.4049C>T (p.Ala1350Val) n.612-19380G>A c.3695C>T (p.Ala1232Val) c.3338C>T (p.Ala1113Val) | |
2 | g.166228815G>C | CA349063720 | SCN1A-AS1,SCN9A | c.4082C>G (p.Ala1361Gly) c.3926C>G (p.Ala1309Gly) c.4049C>G (p.Ala1350Gly) n.612-19380G>C c.3695C>G (p.Ala1232Gly) c.3338C>G (p.Ala1113Gly) | gnomAD v4 |
2 | g.166228815G>T | CA349063717 | SCN1A-AS1,SCN9A | c.4082C>A (p.Ala1361Glu) c.3926C>A (p.Ala1309Glu) c.4049C>A (p.Ala1350Glu) n.612-19380G>T c.3695C>A (p.Ala1232Glu) c.3338C>A (p.Ala1113Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.166228816C>A | CA349063723 | SCN1A-AS1,SCN9A | c.4081G>T (p.Ala1361Ser) c.3925G>T (p.Ala1309Ser) c.4048G>T (p.Ala1350Ser) n.612-19379C>A c.3694G>T (p.Ala1232Ser) c.3337G>T (p.Ala1113Ser) | |
2 | g.166228816C>G | CA349063727 | SCN1A-AS1,SCN9A | c.4081G>C (p.Ala1361Pro) c.3925G>C (p.Ala1309Pro) c.4048G>C (p.Ala1350Pro) n.612-19379C>G c.3694G>C (p.Ala1232Pro) c.3337G>C (p.Ala1113Pro) | |
2 | g.166228816C>T | CA349063729 | SCN1A-AS1,SCN9A | c.4081G>A (p.Ala1361Thr) c.3925G>A (p.Ala1309Thr) c.4048G>A (p.Ala1350Thr) n.612-19379C>T c.3694G>A (p.Ala1232Thr) c.3337G>A (p.Ala1113Thr) | |
2 | g.166228817A>C | CA429899214 | SCN1A-AS1,SCN9A | c.4080T>G (p.Pro1360=) c.3924T>G (p.Pro1308=) c.4047T>G (p.Pro1349=) n.612-19378A>C c.3693T>G (p.Pro1231=) c.3336T>G (p.Pro1112=) | ClinVar |
2 | g.166228817A>G | CA429899215 | SCN1A-AS1,SCN9A | c.4080T>C (p.Pro1360=) c.3924T>C (p.Pro1308=) c.4047T>C (p.Pro1349=) n.612-19378A>G c.3693T>C (p.Pro1231=) c.3336T>C (p.Pro1112=) | gnomAD v4 |
2 | g.166228817A>T | CA429899216 | SCN1A-AS1,SCN9A | c.4080T>A (p.Pro1360=) c.3924T>A (p.Pro1308=) c.4047T>A (p.Pro1349=) n.612-19378A>T c.3693T>A (p.Pro1231=) c.3336T>A (p.Pro1112=) | |
2 | g.166228818G>A | CA349063732 | SCN1A-AS1,SCN9A | c.4079C>T (p.Pro1360Leu) c.3923C>T (p.Pro1308Leu) c.4046C>T (p.Pro1349Leu) n.612-19377G>A c.3692C>T (p.Pro1231Leu) c.3335C>T (p.Pro1112Leu) | dbSNP COSMIC COSMIC |
2 | g.166228818G>C | CA349063735 | SCN1A-AS1,SCN9A | c.4079C>G (p.Pro1360Arg) c.3923C>G (p.Pro1308Arg) c.4046C>G (p.Pro1349Arg) n.612-19377G>C c.3692C>G (p.Pro1231Arg) c.3335C>G (p.Pro1112Arg) | |
2 | g.166228818G= | CA1304943654 | SCN1A-AS1,SCN9A | c.4079C= (p.Pro1360=) c.3923C= (p.Pro1308=) c.4046C= (p.Pro1349=) n.612-19377G= c.3692C= (p.Pro1231=) c.3335C= (p.Pro1112=) | |
2 | g.166228818G>T | CA349063738 | SCN1A-AS1,SCN9A | c.4079C>A (p.Pro1360His) c.3923C>A (p.Pro1308His) c.4046C>A (p.Pro1349His) n.612-19377G>T c.3692C>A (p.Pro1231His) c.3335C>A (p.Pro1112His) | |
2 | g.166228819G>A | CA349063747 | SCN1A-AS1,SCN9A | c.4078C>T (p.Pro1360Ser) c.3922C>T (p.Pro1308Ser) c.4045C>T (p.Pro1349Ser) n.612-19376G>A c.3691C>T (p.Pro1231Ser) c.3334C>T (p.Pro1112Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228819G>C | CA349063739 | SCN1A-AS1,SCN9A | c.4078C>G (p.Pro1360Ala) c.3922C>G (p.Pro1308Ala) c.4045C>G (p.Pro1349Ala) n.612-19376G>C c.3691C>G (p.Pro1231Ala) c.3334C>G (p.Pro1112Ala) | |
2 | g.166228819G= | CA1304943655 | SCN1A-AS1,SCN9A | c.4078C= (p.Pro1360=) c.3922C= (p.Pro1308=) c.4045C= (p.Pro1349=) n.612-19376G= c.3691C= (p.Pro1231=) c.3334C= (p.Pro1112=) | |
2 | g.166228819G>T | CA349063744 | SCN1A-AS1,SCN9A | c.4078C>A (p.Pro1360Thr) c.3922C>A (p.Pro1308Thr) c.4045C>A (p.Pro1349Thr) n.612-19376G>T c.3691C>A (p.Pro1231Thr) c.3334C>A (p.Pro1112Thr) | |
2 | g.166228819_166228820delinsGA | CA1304943656 | SCN1A-AS1,SCN9A | c.4077_4078delinsTC (p.Phe1359=) c.3921_3922delinsTC (p.Phe1307=) c.4044_4045delinsTC (p.Phe1348=) n.612-19376_612-19375delinsGA c.3690_3691delinsTC (p.Phe1230=) c.3333_3334delinsTC (p.Phe1111=) | |
2 | g.166228820A= | CA1304943657 | SCN1A-AS1,SCN9A | c.4077T= (p.Phe1359=) c.3921T= (p.Phe1307=) c.4044T= (p.Phe1348=) n.612-19375A= c.3690T= (p.Phe1230=) c.3333T= (p.Phe1111=) | |
2 | g.166228820A>C | CA349063750 | SCN1A-AS1,SCN9A | c.4077T>G (p.Phe1359Leu) c.3921T>G (p.Phe1307Leu) c.4044T>G (p.Phe1348Leu) n.612-19375A>C c.3690T>G (p.Phe1230Leu) c.3333T>G (p.Phe1111Leu) | |
2 | g.166228820A>G | CA429899220 | SCN1A-AS1,SCN9A | c.4077T>C (p.Phe1359=) c.3921T>C (p.Phe1307=) c.4044T>C (p.Phe1348=) n.612-19375A>G c.3690T>C (p.Phe1230=) c.3333T>C (p.Phe1111=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228820A>T | CA349063754 | SCN1A-AS1,SCN9A | c.4077T>A (p.Phe1359Leu) c.3921T>A (p.Phe1307Leu) c.4044T>A (p.Phe1348Leu) n.612-19375A>T c.3690T>A (p.Phe1230Leu) c.3333T>A (p.Phe1111Leu) | |
2 | g.166228822del | CA1304943658 | SCN1A-AS1,SCN9A | c.4077del (p.Pro1360LeufsTer15) c.3921del (p.Pro1308LeufsTer15) c.4044del (p.Pro1349LeufsTer15) n.612-19373del c.3690del (p.Pro1231LeufsTer15) c.3333del (p.Pro1112LeufsTer15) | dbSNP |
2 | g.166228821A= | CA1304943659 | SCN1A-AS1,SCN9A | c.4076T= (p.Phe1359=) c.3920T= (p.Phe1307=) c.4043T= (p.Phe1348=) n.612-19374A= c.3689T= (p.Phe1230=) c.3332T= (p.Phe1111=) | |
2 | g.166228821A>C | CA349063757 | SCN1A-AS1,SCN9A | c.4076T>G (p.Phe1359Cys) c.3920T>G (p.Phe1307Cys) c.4043T>G (p.Phe1348Cys) n.612-19374A>C c.3689T>G (p.Phe1230Cys) c.3332T>G (p.Phe1111Cys) | |
2 | g.166228821A>G | CA349063759 | SCN1A-AS1,SCN9A | c.4076T>C (p.Phe1359Ser) c.3920T>C (p.Phe1307Ser) c.4043T>C (p.Phe1348Ser) n.612-19374A>G c.3689T>C (p.Phe1230Ser) c.3332T>C (p.Phe1111Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228821A>T | CA349063761 | SCN1A-AS1,SCN9A | c.4076T>A (p.Phe1359Tyr) c.3920T>A (p.Phe1307Tyr) c.4043T>A (p.Phe1348Tyr) n.612-19374A>T c.3689T>A (p.Phe1230Tyr) c.3332T>A (p.Phe1111Tyr) | |
2 | g.166228822A= | CA1304943660 | SCN1A-AS1,SCN9A | c.4075T= (p.Phe1359=) c.3919T= (p.Phe1307=) c.4042T= (p.Phe1348=) n.612-19373A= c.3688T= (p.Phe1230=) c.3331T= (p.Phe1111=) | |
2 | g.166228822A>C | CA349063765 | SCN1A-AS1,SCN9A | c.4075T>G (p.Phe1359Val) c.3919T>G (p.Phe1307Val) c.4042T>G (p.Phe1348Val) n.612-19373A>C c.3688T>G (p.Phe1230Val) c.3331T>G (p.Phe1111Val) | |
2 | g.166228822A>G | CA349063775 | SCN1A-AS1,SCN9A | c.4075T>C (p.Phe1359Leu) c.3919T>C (p.Phe1307Leu) c.4042T>C (p.Phe1348Leu) n.612-19373A>G c.3688T>C (p.Phe1230Leu) c.3331T>C (p.Phe1111Leu) | dbSNP |
2 | g.166228822A>T | CA349063771 | SCN1A-AS1,SCN9A | c.4075T>A (p.Phe1359Ile) c.3919T>A (p.Phe1307Ile) c.4042T>A (p.Phe1348Ile) n.612-19373A>T c.3688T>A (p.Phe1230Ile) c.3331T>A (p.Phe1111Ile) | |
2 | g.166228823C>A | CA429899221 | SCN1A-AS1,SCN9A | c.4074G>T (p.Arg1358=) c.3918G>T (p.Arg1306=) c.4041G>T (p.Arg1347=) n.612-19372C>A c.3687G>T (p.Arg1229=) c.3330G>T (p.Arg1110=) | |
2 | g.166228823C>G | CA429899222 | SCN1A-AS1,SCN9A | c.4074G>C (p.Arg1358=) c.3918G>C (p.Arg1306=) c.4041G>C (p.Arg1347=) n.612-19372C>G c.3687G>C (p.Arg1229=) c.3330G>C (p.Arg1110=) | |
2 | g.166228823C>T | CA429899224 | SCN1A-AS1,SCN9A | c.4074G>A (p.Arg1358=) c.3918G>A (p.Arg1306=) c.4041G>A (p.Arg1347=) n.612-19372C>T c.3687G>A (p.Arg1229=) c.3330G>A (p.Arg1110=) | |
2 | g.166228824C>A | CA349063779 | SCN1A-AS1,SCN9A | c.4073G>T (p.Arg1358Leu) c.3917G>T (p.Arg1306Leu) c.4040G>T (p.Arg1347Leu) n.612-19371C>A c.3686G>T (p.Arg1229Leu) c.3329G>T (p.Arg1110Leu) | |
2 | g.166228824C= | CA1304943661 | SCN1A-AS1,SCN9A | c.4073G= (p.Arg1358=) c.3917G= (p.Arg1306=) c.4040G= (p.Arg1347=) n.612-19371C= c.3686G= (p.Arg1229=) c.3329G= (p.Arg1110=) | |
2 | g.166228824C>G | CA1943955 | SCN1A-AS1,SCN9A | c.4073G>C (p.Arg1358Pro) c.3917G>C (p.Arg1306Pro) c.4040G>C (p.Arg1347Pro) n.612-19371C>G c.3686G>C (p.Arg1229Pro) c.3329G>C (p.Arg1110Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228824C>T | CA242197 | SCN1A-AS1,SCN9A | c.4073G>A (p.Arg1358Gln) c.3917G>A (p.Arg1306Gln) c.4040G>A (p.Arg1347Gln) n.612-19371C>T c.3686G>A (p.Arg1229Gln) c.3329G>A (p.Arg1110Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228825G>A | CA349063786 | SCN1A-AS1,SCN9A | c.4072C>T (p.Arg1358Trp) c.3916C>T (p.Arg1306Trp) c.4039C>T (p.Arg1347Trp) n.612-19370G>A c.3685C>T (p.Arg1229Trp) c.3328C>T (p.Arg1110Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228825G>C | CA349063789 | SCN1A-AS1,SCN9A | c.4072C>G (p.Arg1358Gly) c.3916C>G (p.Arg1306Gly) c.4039C>G (p.Arg1347Gly) n.612-19370G>C c.3685C>G (p.Arg1229Gly) c.3328C>G (p.Arg1110Gly) | |
2 | g.166228825G= | CA1304943662 | SCN1A-AS1,SCN9A | c.4072C= (p.Arg1358=) c.3916C= (p.Arg1306=) c.4039C= (p.Arg1347=) n.612-19370G= c.3685C= (p.Arg1229=) c.3328C= (p.Arg1110=) | |
2 | g.166228825G>T | CA429899226 | SCN1A-AS1,SCN9A | c.4072C>A (p.Arg1358=) c.3916C>A (p.Arg1306=) c.4039C>A (p.Arg1347=) n.612-19370G>T c.3685C>A (p.Arg1229=) c.3328C>A (p.Arg1110=) | dbSNP gnomAD v4 |
2 | g.166228826T>A | CA429899227 | SCN1A-AS1,SCN9A | c.4071A>T (p.Ser1357=) c.3915A>T (p.Ser1305=) c.4038A>T (p.Ser1346=) n.612-19369T>A c.3684A>T (p.Ser1228=) c.3327A>T (p.Ser1109=) | |
2 | g.166228826T>C | CA429899228 | SCN1A-AS1,SCN9A | c.4071A>G (p.Ser1357=) c.3915A>G (p.Ser1305=) c.4038A>G (p.Ser1346=) n.612-19369T>C c.3684A>G (p.Ser1228=) c.3327A>G (p.Ser1109=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228826T>G | CA429899229 | SCN1A-AS1,SCN9A | c.4071A>C (p.Ser1357=) c.3915A>C (p.Ser1305=) c.4038A>C (p.Ser1346=) n.612-19369T>G c.3684A>C (p.Ser1228=) c.3327A>C (p.Ser1109=) | |
2 | g.166228826T= | CA1304943663 | SCN1A-AS1,SCN9A | c.4071A= (p.Ser1357=) c.3915A= (p.Ser1305=) c.4038A= (p.Ser1346=) n.612-19369T= c.3684A= (p.Ser1228=) c.3327A= (p.Ser1109=) | |
2 | g.166228827G>A | CA1943956 | SCN1A-AS1,SCN9A | c.4070C>T (p.Ser1357Leu) c.3914C>T (p.Ser1305Leu) c.4037C>T (p.Ser1346Leu) n.612-19368G>A c.3683C>T (p.Ser1228Leu) c.3326C>T (p.Ser1109Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228827G>C | CA349063798 | SCN1A-AS1,SCN9A | c.4070C>G (p.Ser1357Ter) c.3914C>G (p.Ser1305Ter) c.4037C>G (p.Ser1346Ter) n.612-19368G>C c.3683C>G (p.Ser1228Ter) c.3326C>G (p.Ser1109Ter) | |
2 | g.166228827G= | CA1304943664 | SCN1A-AS1,SCN9A | c.4070C= (p.Ser1357=) c.3914C= (p.Ser1305=) c.4037C= (p.Ser1346=) n.612-19368G= c.3683C= (p.Ser1228=) c.3326C= (p.Ser1109=) | |
2 | g.166228827G>T | CA349063801 | SCN1A-AS1,SCN9A | c.4070C>A (p.Ser1357Ter) c.3914C>A (p.Ser1305Ter) c.4037C>A (p.Ser1346Ter) n.612-19368G>T c.3683C>A (p.Ser1228Ter) c.3326C>A (p.Ser1109Ter) | |
2 | g.166228828A>C | CA349063809 | SCN1A-AS1,SCN9A | c.4069T>G (p.Ser1357Ala) c.3913T>G (p.Ser1305Ala) c.4036T>G (p.Ser1346Ala) n.612-19367A>C c.3682T>G (p.Ser1228Ala) c.3325T>G (p.Ser1109Ala) | gnomAD v4 |
2 | g.166228828A>G | CA349063810 | SCN1A-AS1,SCN9A | c.4069T>C (p.Ser1357Pro) c.3913T>C (p.Ser1305Pro) c.4036T>C (p.Ser1346Pro) n.612-19367A>G c.3682T>C (p.Ser1228Pro) c.3325T>C (p.Ser1109Pro) | |
2 | g.166228828A>T | CA349063814 | SCN1A-AS1,SCN9A | c.4069T>A (p.Ser1357Thr) c.3913T>A (p.Ser1305Thr) c.4036T>A (p.Ser1346Thr) n.612-19367A>T c.3682T>A (p.Ser1228Thr) c.3325T>A (p.Ser1109Thr) | |
2 | g.166228829C>A | CA429899233 | SCN1A-AS1,SCN9A | c.4068G>T (p.Gly1356=) c.3912G>T (p.Gly1304=) c.4035G>T (p.Gly1345=) n.612-19366C>A c.3681G>T (p.Gly1227=) c.3324G>T (p.Gly1108=) | |
2 | g.166228829C>G | CA429899234 | SCN1A-AS1,SCN9A | c.4068G>C (p.Gly1356=) c.3912G>C (p.Gly1304=) c.4035G>C (p.Gly1345=) n.612-19366C>G c.3681G>C (p.Gly1227=) c.3324G>C (p.Gly1108=) | |
2 | g.166228829C>T | CA429899235 | SCN1A-AS1,SCN9A | c.4068G>A (p.Gly1356=) c.3912G>A (p.Gly1304=) c.4035G>A (p.Gly1345=) n.612-19366C>T c.3681G>A (p.Gly1227=) c.3324G>A (p.Gly1108=) | |
2 | g.166228830C>A | CA349063822 | SCN1A-AS1,SCN9A | c.4067G>T (p.Gly1356Val) c.3911G>T (p.Gly1304Val) c.4034G>T (p.Gly1345Val) n.612-19365C>A c.3680G>T (p.Gly1227Val) c.3323G>T (p.Gly1108Val) | |
2 | g.166228830C>G | CA349063823 | SCN1A-AS1,SCN9A | c.4067G>C (p.Gly1356Ala) c.3911G>C (p.Gly1304Ala) c.4034G>C (p.Gly1345Ala) n.612-19365C>G c.3680G>C (p.Gly1227Ala) c.3323G>C (p.Gly1108Ala) | |
2 | g.166228830C>T | CA349063816 | SCN1A-AS1,SCN9A | c.4067G>A (p.Gly1356Glu) c.3911G>A (p.Gly1304Glu) c.4034G>A (p.Gly1345Glu) n.612-19365C>T c.3680G>A (p.Gly1227Glu) c.3323G>A (p.Gly1108Glu) | |
2 | g.166228831C>A | CA349063824 | SCN1A-AS1,SCN9A | c.4066G>T (p.Gly1356Trp) c.3910G>T (p.Gly1304Trp) c.4033G>T (p.Gly1345Trp) n.612-19364C>A c.3679G>T (p.Gly1227Trp) c.3322G>T (p.Gly1108Trp) | ClinVar dbSNP gnomAD v4 |
2 | g.166228831C= | CA1304943665 | SCN1A-AS1,SCN9A | c.4066G= (p.Gly1356=) c.3910G= (p.Gly1304=) c.4033G= (p.Gly1345=) n.612-19364C= c.3679G= (p.Gly1227=) c.3322G= (p.Gly1108=) | |
2 | g.166228831C>G | CA349063826 | SCN1A-AS1,SCN9A | c.4066G>C (p.Gly1356Arg) c.3910G>C (p.Gly1304Arg) c.4033G>C (p.Gly1345Arg) n.612-19364C>G c.3679G>C (p.Gly1227Arg) c.3322G>C (p.Gly1108Arg) | |
2 | g.166228831C>T | CA349063825 | SCN1A-AS1,SCN9A | c.4066G>A (p.Gly1356Arg) c.3910G>A (p.Gly1304Arg) c.4033G>A (p.Gly1345Arg) n.612-19364C>T c.3679G>A (p.Gly1227Arg) c.3322G>A (p.Gly1108Arg) | |
2 | g.166228832A= | CA1304943666 | SCN1A-AS1,SCN9A | c.4065T= (p.Asp1355=) c.3909T= (p.Asp1303=) c.4032T= (p.Asp1344=) n.612-19363A= c.3678T= (p.Asp1226=) c.3321T= (p.Asp1107=) | |
2 | g.166228832A>C | CA349063829 | SCN1A-AS1,SCN9A | c.4065T>G (p.Asp1355Glu) c.3909T>G (p.Asp1303Glu) c.4032T>G (p.Asp1344Glu) n.612-19363A>C c.3678T>G (p.Asp1226Glu) c.3321T>G (p.Asp1107Glu) | gnomAD v4 |
2 | g.166228832A>G | CA1943957 | SCN1A-AS1,SCN9A | c.4065T>C (p.Asp1355=) c.3909T>C (p.Asp1303=) c.4032T>C (p.Asp1344=) n.612-19363A>G c.3678T>C (p.Asp1226=) c.3321T>C (p.Asp1107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228832A>T | CA349063833 | SCN1A-AS1,SCN9A | c.4065T>A (p.Asp1355Glu) c.3909T>A (p.Asp1303Glu) c.4032T>A (p.Asp1344Glu) n.612-19363A>T c.3678T>A (p.Asp1226Glu) c.3321T>A (p.Asp1107Glu) | |
2 | g.166228833T>A | CA349063837 | SCN1A-AS1,SCN9A | c.4064A>T (p.Asp1355Val) c.3908A>T (p.Asp1303Val) c.4031A>T (p.Asp1344Val) n.612-19362T>A c.3677A>T (p.Asp1226Val) c.3320A>T (p.Asp1107Val) | |
2 | g.166228833T>C | CA349063842 | SCN1A-AS1,SCN9A | c.4064A>G (p.Asp1355Gly) c.3908A>G (p.Asp1303Gly) c.4031A>G (p.Asp1344Gly) n.612-19362T>C c.3677A>G (p.Asp1226Gly) c.3320A>G (p.Asp1107Gly) | gnomAD v4 |
2 | g.166228833T>G | CA349063840 | SCN1A-AS1,SCN9A | c.4064A>C (p.Asp1355Ala) c.3908A>C (p.Asp1303Ala) c.4031A>C (p.Asp1344Ala) n.612-19362T>G c.3677A>C (p.Asp1226Ala) c.3320A>C (p.Asp1107Ala) | |
2 | g.166228834C>A | CA349063845 | SCN1A-AS1,SCN9A | c.4063G>T (p.Asp1355Tyr) c.3907G>T (p.Asp1303Tyr) c.4030G>T (p.Asp1344Tyr) n.612-19361C>A c.3676G>T (p.Asp1226Tyr) c.3319G>T (p.Asp1107Tyr) | |
2 | g.166228834C= | CA1304943667 | SCN1A-AS1,SCN9A | c.4063G= (p.Asp1355=) c.3907G= (p.Asp1303=) c.4030G= (p.Asp1344=) n.612-19361C= c.3676G= (p.Asp1226=) c.3319G= (p.Asp1107=) | |
2 | g.166228834C>G | CA349063846 | SCN1A-AS1,SCN9A | c.4063G>C (p.Asp1355His) c.3907G>C (p.Asp1303His) c.4030G>C (p.Asp1344His) n.612-19361C>G c.3676G>C (p.Asp1226His) c.3319G>C (p.Asp1107His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228834C>T | CA349063849 | SCN1A-AS1,SCN9A | c.4063G>A (p.Asp1355Asn) c.3907G>A (p.Asp1303Asn) c.4030G>A (p.Asp1344Asn) n.612-19361C>T c.3676G>A (p.Asp1226Asn) c.3319G>A (p.Asp1107Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.166228835T>A | CA429899237 | SCN1A-AS1,SCN9A | c.4062A>T (p.Thr1354=) c.3906A>T (p.Thr1302=) c.4029A>T (p.Thr1343=) n.612-19360T>A c.3675A>T (p.Thr1225=) c.3318A>T (p.Thr1106=) | |
2 | g.166228835T>C | CA1943958 | SCN1A-AS1,SCN9A | c.4062A>G (p.Thr1354=) c.3906A>G (p.Thr1302=) c.4029A>G (p.Thr1343=) n.612-19360T>C c.3675A>G (p.Thr1225=) c.3318A>G (p.Thr1106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228835T>G | CA429899238 | SCN1A-AS1,SCN9A | c.4062A>C (p.Thr1354=) c.3906A>C (p.Thr1302=) c.4029A>C (p.Thr1343=) n.612-19360T>G c.3675A>C (p.Thr1225=) c.3318A>C (p.Thr1106=) | |
2 | g.166228835T= | CA1304943668 | SCN1A-AS1,SCN9A | c.4062A= (p.Thr1354=) c.3906A= (p.Thr1302=) c.4029A= (p.Thr1343=) n.612-19360T= c.3675A= (p.Thr1225=) c.3318A= (p.Thr1106=) | |
2 | g.166228837_166228838del | CA2577144848 | SCN1A-AS1,SCN9A | c.4061_4062del (p.Thr1354ArgfsTer23) c.3905_3906del (p.Thr1302ArgfsTer23) c.4028_4029del (p.Thr1343ArgfsTer23) n.612-19358_612-19357del c.3674_3675del (p.Thr1225ArgfsTer23) c.3317_3318del (p.Thr1106ArgfsTer23) | |
2 | g.166228836G>A | CA59810303 | SCN1A-AS1,SCN9A | c.4061C>T (p.Thr1354Ile) c.3905C>T (p.Thr1302Ile) c.4028C>T (p.Thr1343Ile) n.612-19359G>A c.3674C>T (p.Thr1225Ile) c.3317C>T (p.Thr1106Ile) | dbSNP gnomAD v4 |
2 | g.166228836G>C | CA349063854 | SCN1A-AS1,SCN9A | c.4061C>G (p.Thr1354Arg) c.3905C>G (p.Thr1302Arg) c.4028C>G (p.Thr1343Arg) n.612-19359G>C c.3674C>G (p.Thr1225Arg) c.3317C>G (p.Thr1106Arg) | |
2 | g.166228836G= | CA1304943669 | SCN1A-AS1,SCN9A | c.4061C= (p.Thr1354=) c.3905C= (p.Thr1302=) c.4028C= (p.Thr1343=) n.612-19359G= c.3674C= (p.Thr1225=) c.3317C= (p.Thr1106=) | |
2 | g.166228836G>T | CA349063857 | SCN1A-AS1,SCN9A | c.4061C>A (p.Thr1354Lys) c.3905C>A (p.Thr1302Lys) c.4028C>A (p.Thr1343Lys) n.612-19359G>T c.3674C>A (p.Thr1225Lys) c.3317C>A (p.Thr1106Lys) | COSMIC |
2 | g.166228837T>A | CA349063860 | SCN1A-AS1,SCN9A | c.4060A>T (p.Thr1354Ser) c.3904A>T (p.Thr1302Ser) c.4027A>T (p.Thr1343Ser) n.612-19358T>A c.3673A>T (p.Thr1225Ser) c.3316A>T (p.Thr1106Ser) | |
2 | g.166228837T>C | CA349063862 | SCN1A-AS1,SCN9A | c.4060A>G (p.Thr1354Ala) c.3904A>G (p.Thr1302Ala) c.4027A>G (p.Thr1343Ala) n.612-19358T>C c.3673A>G (p.Thr1225Ala) c.3316A>G (p.Thr1106Ala) | |
2 | g.166228837T>G | CA349063864 | SCN1A-AS1,SCN9A | c.4060A>C (p.Thr1354Pro) c.3904A>C (p.Thr1302Pro) c.4027A>C (p.Thr1343Pro) n.612-19358T>G c.3673A>C (p.Thr1225Pro) c.3316A>C (p.Thr1106Pro) | |
2 | g.166228838G>A | CA59810307 | SCN1A-AS1,SCN9A | c.4059C>T (p.Thr1353=) c.3903C>T (p.Thr1301=) c.4026C>T (p.Thr1342=) n.612-19357G>A c.3672C>T (p.Thr1224=) c.3315C>T (p.Thr1105=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228838G>C | CA429899240 | SCN1A-AS1,SCN9A | c.4059C>G (p.Thr1353=) c.3903C>G (p.Thr1301=) c.4026C>G (p.Thr1342=) n.612-19357G>C c.3672C>G (p.Thr1224=) c.3315C>G (p.Thr1105=) | |
2 | g.166228838G= | CA1304943670 | SCN1A-AS1,SCN9A | c.4059C= (p.Thr1353=) c.3903C= (p.Thr1301=) c.4026C= (p.Thr1342=) n.612-19357G= c.3672C= (p.Thr1224=) c.3315C= (p.Thr1105=) | |
2 | g.166228838G>T | CA429899241 | SCN1A-AS1,SCN9A | c.4059C>A (p.Thr1353=) c.3903C>A (p.Thr1301=) c.4026C>A (p.Thr1342=) n.612-19357G>T c.3672C>A (p.Thr1224=) c.3315C>A (p.Thr1105=) | |
2 | g.166228839G>A | CA349063869 | SCN1A-AS1,SCN9A | c.4058C>T (p.Thr1353Ile) c.3902C>T (p.Thr1301Ile) c.4025C>T (p.Thr1342Ile) n.612-19356G>A c.3671C>T (p.Thr1224Ile) c.3314C>T (p.Thr1105Ile) | |
2 | g.166228839G>C | CA349063872 | SCN1A-AS1,SCN9A | c.4058C>G (p.Thr1353Ser) c.3902C>G (p.Thr1301Ser) c.4025C>G (p.Thr1342Ser) n.612-19356G>C c.3671C>G (p.Thr1224Ser) c.3314C>G (p.Thr1105Ser) | |
2 | g.166228839G>T | CA349063871 | SCN1A-AS1,SCN9A | c.4058C>A (p.Thr1353Asn) c.3902C>A (p.Thr1301Asn) c.4025C>A (p.Thr1342Asn) n.612-19356G>T c.3671C>A (p.Thr1224Asn) c.3314C>A (p.Thr1105Asn) | gnomAD v4 |
2 | g.166228840T>A | CA349063873 | SCN1A-AS1,SCN9A | c.4057A>T (p.Thr1353Ser) c.3901A>T (p.Thr1301Ser) c.4024A>T (p.Thr1342Ser) n.612-19355T>A c.3670A>T (p.Thr1224Ser) c.3313A>T (p.Thr1105Ser) | |
2 | g.166228840T>C | CA349063875 | SCN1A-AS1,SCN9A | c.4057A>G (p.Thr1353Ala) c.3901A>G (p.Thr1301Ala) c.4024A>G (p.Thr1342Ala) n.612-19355T>C c.3670A>G (p.Thr1224Ala) c.3313A>G (p.Thr1105Ala) | COSMIC |
2 | g.166228840T>G | CA349063877 | SCN1A-AS1,SCN9A | c.4057A>C (p.Thr1353Pro) c.3901A>C (p.Thr1301Pro) c.4024A>C (p.Thr1342Pro) n.612-19355T>G c.3670A>C (p.Thr1224Pro) c.3313A>C (p.Thr1105Pro) | |
2 | g.166228841G>A | CA1943959 | SCN1A-AS1,SCN9A | c.4056C>T (p.Asn1352=) c.3900C>T (p.Asn1300=) c.4023C>T (p.Asn1341=) n.612-19354G>A c.3669C>T (p.Asn1223=) c.3312C>T (p.Asn1104=) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.166228841G>C | CA349063887 | SCN1A-AS1,SCN9A | c.4056C>G (p.Asn1352Lys) c.3900C>G (p.Asn1300Lys) c.4023C>G (p.Asn1341Lys) n.612-19354G>C c.3669C>G (p.Asn1223Lys) c.3312C>G (p.Asn1104Lys) | |
2 | g.166228841G= | CA1304943671 | SCN1A-AS1,SCN9A | c.4056C= (p.Asn1352=) c.3900C= (p.Asn1300=) c.4023C= (p.Asn1341=) n.612-19354G= c.3669C= (p.Asn1223=) c.3312C= (p.Asn1104=) | |
2 | g.166228841G>T | CA349063894 | SCN1A-AS1,SCN9A | c.4056C>A (p.Asn1352Lys) c.3900C>A (p.Asn1300Lys) c.4023C>A (p.Asn1341Lys) n.612-19354G>T c.3669C>A (p.Asn1223Lys) c.3312C>A (p.Asn1104Lys) | |
2 | g.166228842T>A | CA349063906 | SCN1A-AS1,SCN9A | c.4055A>T (p.Asn1352Ile) c.3899A>T (p.Asn1300Ile) c.4022A>T (p.Asn1341Ile) n.612-19353T>A c.3668A>T (p.Asn1223Ile) c.3311A>T (p.Asn1104Ile) | |
2 | g.166228842T>C | CA349063909 | SCN1A-AS1,SCN9A | c.4055A>G (p.Asn1352Ser) c.3899A>G (p.Asn1300Ser) c.4022A>G (p.Asn1341Ser) n.612-19353T>C c.3668A>G (p.Asn1223Ser) c.3311A>G (p.Asn1104Ser) | |
2 | g.166228842T>G | CA349063911 | SCN1A-AS1,SCN9A | c.4055A>C (p.Asn1352Thr) c.3899A>C (p.Asn1300Thr) c.4022A>C (p.Asn1341Thr) n.612-19353T>G c.3668A>C (p.Asn1223Thr) c.3311A>C (p.Asn1104Thr) | ClinVar dbSNP |
2 | g.166228842T= | CA1304943672 | SCN1A-AS1,SCN9A | c.4055A= (p.Asn1352=) c.3899A= (p.Asn1300=) c.4022A= (p.Asn1341=) n.612-19353T= c.3668A= (p.Asn1223=) c.3311A= (p.Asn1104=) | |
2 | g.166228843T>A | CA349063919 | SCN1A-AS1,SCN9A | c.4054A>T (p.Asn1352Tyr) c.3898A>T (p.Asn1300Tyr) c.4021A>T (p.Asn1341Tyr) n.612-19352T>A c.3667A>T (p.Asn1223Tyr) c.3310A>T (p.Asn1104Tyr) | COSMIC COSMIC |
2 | g.166228843T>C | CA349063922 | SCN1A-AS1,SCN9A | c.4054A>G (p.Asn1352Asp) c.3898A>G (p.Asn1300Asp) c.4021A>G (p.Asn1341Asp) n.612-19352T>C c.3667A>G (p.Asn1223Asp) c.3310A>G (p.Asn1104Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.166228843T>G | CA349063915 | SCN1A-AS1,SCN9A | c.4054A>C (p.Asn1352His) c.3898A>C (p.Asn1300His) c.4021A>C (p.Asn1341His) n.612-19352T>G c.3667A>C (p.Asn1223His) c.3310A>C (p.Asn1104His) | |
2 | g.166228843T= | CA1304943673 | SCN1A-AS1,SCN9A | c.4054A= (p.Asn1352=) c.3898A= (p.Asn1300=) c.4021A= (p.Asn1341=) n.612-19352T= c.3667A= (p.Asn1223=) c.3310A= (p.Asn1104=) | |
2 | g.166228844A>C | CA349063926 | SCN1A-AS1,SCN9A | c.4053T>G (p.Ile1351Met) c.3897T>G (p.Ile1299Met) c.4020T>G (p.Ile1340Met) n.612-19351A>C c.3666T>G (p.Ile1222Met) c.3309T>G (p.Ile1103Met) | gnomAD v4 |
2 | g.166228844A>G | CA429899245 | SCN1A-AS1,SCN9A | c.4053T>C (p.Ile1351=) c.3897T>C (p.Ile1299=) c.4020T>C (p.Ile1340=) n.612-19351A>G c.3666T>C (p.Ile1222=) c.3309T>C (p.Ile1103=) | |
2 | g.166228844A>T | CA429899246 | SCN1A-AS1,SCN9A | c.4053T>A (p.Ile1351=) c.3897T>A (p.Ile1299=) c.4020T>A (p.Ile1340=) n.612-19351A>T c.3666T>A (p.Ile1222=) c.3309T>A (p.Ile1103=) | |
2 | g.166228845A>C | CA349063928 | SCN1A-AS1,SCN9A | c.4052T>G (p.Ile1351Ser) c.3896T>G (p.Ile1299Ser) c.4019T>G (p.Ile1340Ser) n.612-19350A>C c.3665T>G (p.Ile1222Ser) c.3308T>G (p.Ile1103Ser) | |
2 | g.166228845A>G | CA349063931 | SCN1A-AS1,SCN9A | c.4052T>C (p.Ile1351Thr) c.3896T>C (p.Ile1299Thr) c.4019T>C (p.Ile1340Thr) n.612-19350A>G c.3665T>C (p.Ile1222Thr) c.3308T>C (p.Ile1103Thr) | gnomAD v4 |
2 | g.166228845A>T | CA349063934 | SCN1A-AS1,SCN9A | c.4052T>A (p.Ile1351Asn) c.3896T>A (p.Ile1299Asn) c.4019T>A (p.Ile1340Asn) n.612-19350A>T c.3665T>A (p.Ile1222Asn) c.3308T>A (p.Ile1103Asn) | |
2 | g.166228846T>A | CA349063943 | SCN1A-AS1,SCN9A | c.4051A>T (p.Ile1351Phe) c.3895A>T (p.Ile1299Phe) c.4018A>T (p.Ile1340Phe) n.612-19349T>A c.3664A>T (p.Ile1222Phe) c.3307A>T (p.Ile1103Phe) | |
2 | g.166228846T>C | CA349063940 | SCN1A-AS1,SCN9A | c.4051A>G (p.Ile1351Val) c.3895A>G (p.Ile1299Val) c.4018A>G (p.Ile1340Val) n.612-19349T>C c.3664A>G (p.Ile1222Val) c.3307A>G (p.Ile1103Val) | |
2 | g.166228846T>G | CA349063938 | SCN1A-AS1,SCN9A | c.4051A>C (p.Ile1351Leu) c.3895A>C (p.Ile1299Leu) c.4018A>C (p.Ile1340Leu) n.612-19349T>G c.3664A>C (p.Ile1222Leu) c.3307A>C (p.Ile1103Leu) | |
2 | g.166228847A= | CA1304943674 | SCN1A-AS1,SCN9A | c.4050T= (p.Cys1350=) c.3894T= (p.Cys1298=) c.4017T= (p.Cys1339=) n.612-19348A= c.3663T= (p.Cys1221=) c.3306T= (p.Cys1102=) | |
2 | g.166228847A>C | CA349063951 | SCN1A-AS1,SCN9A | c.4050T>G (p.Cys1350Trp) c.3894T>G (p.Cys1298Trp) c.4017T>G (p.Cys1339Trp) n.612-19348A>C c.3663T>G (p.Cys1221Trp) c.3306T>G (p.Cys1102Trp) | |
2 | g.166228847A>G | CA1943960 | SCN1A-AS1,SCN9A | c.4050T>C (p.Cys1350=) c.3894T>C (p.Cys1298=) c.4017T>C (p.Cys1339=) n.612-19348A>G c.3663T>C (p.Cys1221=) c.3306T>C (p.Cys1102=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166228847A>T | CA349063957 | SCN1A-AS1,SCN9A | c.4050T>A (p.Cys1350Ter) c.3894T>A (p.Cys1298Ter) c.4017T>A (p.Cys1339Ter) n.612-19348A>T c.3663T>A (p.Cys1221Ter) c.3306T>A (p.Cys1102Ter) | dbSNP |
2 | g.166228848C>A | CA349063960 | SCN1A-AS1,SCN9A | c.4049G>T (p.Cys1350Phe) c.3893G>T (p.Cys1298Phe) c.4016G>T (p.Cys1339Phe) n.612-19347C>A c.3662G>T (p.Cys1221Phe) c.3305G>T (p.Cys1102Phe) | |
2 | g.166228848C>G | CA349063969 | SCN1A-AS1,SCN9A | c.4049G>C (p.Cys1350Ser) c.3893G>C (p.Cys1298Ser) c.4016G>C (p.Cys1339Ser) n.612-19347C>G c.3662G>C (p.Cys1221Ser) c.3305G>C (p.Cys1102Ser) | |
2 | g.166228848C>T | CA349063972 | SCN1A-AS1,SCN9A | c.4049G>A (p.Cys1350Tyr) c.3893G>A (p.Cys1298Tyr) c.4016G>A (p.Cys1339Tyr) n.612-19347C>T c.3662G>A (p.Cys1221Tyr) c.3305G>A (p.Cys1102Tyr) | |
2 | g.166228849A= | CA1304943675 | SCN1A-AS1,SCN9A | c.4048T= (p.Cys1350=) c.3892T= (p.Cys1298=) c.4015T= (p.Cys1339=) n.612-19346A= c.3661T= (p.Cys1221=) c.3304T= (p.Cys1102=) | |
2 | g.166228849A>C | CA349063976 | SCN1A-AS1,SCN9A | c.4048T>G (p.Cys1350Gly) c.3892T>G (p.Cys1298Gly) c.4015T>G (p.Cys1339Gly) n.612-19346A>C c.3661T>G (p.Cys1221Gly) c.3304T>G (p.Cys1102Gly) | gnomAD v4 |
2 | g.166228849A>G | CA349063982 | SCN1A-AS1,SCN9A | c.4048T>C (p.Cys1350Arg) c.3892T>C (p.Cys1298Arg) c.4015T>C (p.Cys1339Arg) n.612-19346A>G c.3661T>C (p.Cys1221Arg) c.3304T>C (p.Cys1102Arg) | ClinVar dbSNP |
2 | g.166228849A>T | CA349063979 | SCN1A-AS1,SCN9A | c.4048T>A (p.Cys1350Ser) c.3892T>A (p.Cys1298Ser) c.4015T>A (p.Cys1339Ser) n.612-19346A>T c.3661T>A (p.Cys1221Ser) c.3304T>A (p.Cys1102Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228850C>A | CA349063985 | SCN1A-AS1,SCN9A | c.4047G>T (p.Glu1349Asp) c.3891G>T (p.Glu1297Asp) c.4014G>T (p.Glu1338Asp) n.612-19345C>A c.3660G>T (p.Glu1220Asp) c.3303G>T (p.Glu1101Asp) | |
2 | g.166228850C= | CA1304943676 | SCN1A-AS1,SCN9A | c.4047G= (p.Glu1349=) c.3891G= (p.Glu1297=) c.4014G= (p.Glu1338=) n.612-19345C= c.3660G= (p.Glu1220=) c.3303G= (p.Glu1101=) | |
2 | g.166228850C>G | CA349063987 | SCN1A-AS1,SCN9A | c.4047G>C (p.Glu1349Asp) c.3891G>C (p.Glu1297Asp) c.4014G>C (p.Glu1338Asp) n.612-19345C>G c.3660G>C (p.Glu1220Asp) c.3303G>C (p.Glu1101Asp) | |
2 | g.166228850C>T | CA59810314 | SCN1A-AS1,SCN9A | c.4047G>A (p.Glu1349=) c.3891G>A (p.Glu1297=) c.4014G>A (p.Glu1338=) n.612-19345C>T c.3660G>A (p.Glu1220=) c.3303G>A (p.Glu1101=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228851T>A | CA349063995 | SCN1A-AS1,SCN9A | c.4046A>T (p.Glu1349Val) c.3890A>T (p.Glu1297Val) c.4013A>T (p.Glu1338Val) n.612-19344T>A c.3659A>T (p.Glu1220Val) c.3302A>T (p.Glu1101Val) | ClinVar dbSNP gnomAD v4 |
2 | g.166228851T>C | CA349063997 | SCN1A-AS1,SCN9A | c.4046A>G (p.Glu1349Gly) c.3890A>G (p.Glu1297Gly) c.4013A>G (p.Glu1338Gly) n.612-19344T>C c.3659A>G (p.Glu1220Gly) c.3302A>G (p.Glu1101Gly) | |
2 | g.166228851T>G | CA349064001 | SCN1A-AS1,SCN9A | c.4046A>C (p.Glu1349Ala) c.3890A>C (p.Glu1297Ala) c.4013A>C (p.Glu1338Ala) n.612-19344T>G c.3659A>C (p.Glu1220Ala) c.3302A>C (p.Glu1101Ala) | |
2 | g.166228851T= | CA1304943677 | SCN1A-AS1,SCN9A | c.4046A= (p.Glu1349=) c.3890A= (p.Glu1297=) c.4013A= (p.Glu1338=) n.612-19344T= c.3659A= (p.Glu1220=) c.3302A= (p.Glu1101=) | |
2 | g.166228852C>A | CA349064002 | SCN1A-AS1,SCN9A | c.4045G>T (p.Glu1349Ter) c.3889G>T (p.Glu1297Ter) c.4012G>T (p.Glu1338Ter) n.612-19343C>A c.3658G>T (p.Glu1220Ter) c.3301G>T (p.Glu1101Ter) | dbSNP |
2 | g.166228852C= | CA1304943678 | SCN1A-AS1,SCN9A | c.4045G= (p.Glu1349=) c.3889G= (p.Glu1297=) c.4012G= (p.Glu1338=) n.612-19343C= c.3658G= (p.Glu1220=) c.3301G= (p.Glu1101=) | |
2 | g.166228852C>G | CA349064008 | SCN1A-AS1,SCN9A | c.4045G>C (p.Glu1349Gln) c.3889G>C (p.Glu1297Gln) c.4012G>C (p.Glu1338Gln) n.612-19343C>G c.3658G>C (p.Glu1220Gln) c.3301G>C (p.Glu1101Gln) | |
2 | g.166228852C>T | CA349064010 | SCN1A-AS1,SCN9A | c.4045G>A (p.Glu1349Lys) c.3889G>A (p.Glu1297Lys) c.4012G>A (p.Glu1338Lys) n.612-19343C>T c.3658G>A (p.Glu1220Lys) c.3301G>A (p.Glu1101Lys) | dbSNP |
2 | g.166228853A>C | CA349064011 | SCN1A-AS1,SCN9A | c.4044T>G (p.Tyr1348Ter) c.3888T>G (p.Tyr1296Ter) c.4011T>G (p.Tyr1337Ter) n.612-19342A>C c.3657T>G (p.Tyr1219Ter) c.3300T>G (p.Tyr1100Ter) | |
2 | g.166228853A>G | CA429899254 | SCN1A-AS1,SCN9A | c.4044T>C (p.Tyr1348=) c.3888T>C (p.Tyr1296=) c.4011T>C (p.Tyr1337=) n.612-19342A>G c.3657T>C (p.Tyr1219=) c.3300T>C (p.Tyr1100=) | gnomAD v4 |
2 | g.166228853A>T | CA349064018 | SCN1A-AS1,SCN9A | c.4044T>A (p.Tyr1348Ter) c.3888T>A (p.Tyr1296Ter) c.4011T>A (p.Tyr1337Ter) n.612-19342A>T c.3657T>A (p.Tyr1219Ter) c.3300T>A (p.Tyr1100Ter) | |
2 | g.166228854T>A | CA349064024 | SCN1A-AS1,SCN9A | c.4043A>T (p.Tyr1348Phe) c.3887A>T (p.Tyr1296Phe) c.4010A>T (p.Tyr1337Phe) n.612-19341T>A c.3656A>T (p.Tyr1219Phe) c.3299A>T (p.Tyr1100Phe) | gnomAD v4 |
2 | g.166228854T>C | CA231503 | SCN1A-AS1,SCN9A | c.4043A>G (p.Tyr1348Cys) c.3887A>G (p.Tyr1296Cys) c.4010A>G (p.Tyr1337Cys) n.612-19341T>C c.3656A>G (p.Tyr1219Cys) c.3299A>G (p.Tyr1100Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228854T>G | CA349064019 | SCN1A-AS1,SCN9A | c.4043A>C (p.Tyr1348Ser) c.3887A>C (p.Tyr1296Ser) c.4010A>C (p.Tyr1337Ser) n.612-19341T>G c.3656A>C (p.Tyr1219Ser) c.3299A>C (p.Tyr1100Ser) | |
2 | g.166228854T= | CA1304943679 | SCN1A-AS1,SCN9A | c.4043A= (p.Tyr1348=) c.3887A= (p.Tyr1296=) c.4010A= (p.Tyr1337=) n.612-19341T= c.3656A= (p.Tyr1219=) c.3299A= (p.Tyr1100=) | |
2 | g.166228855A>C | CA349064031 | SCN1A-AS1,SCN9A | c.4042T>G (p.Tyr1348Asp) c.3886T>G (p.Tyr1296Asp) c.4009T>G (p.Tyr1337Asp) n.612-19340A>C c.3655T>G (p.Tyr1219Asp) c.3298T>G (p.Tyr1100Asp) | |
2 | g.166228855A>G | CA349064035 | SCN1A-AS1,SCN9A | c.4042T>C (p.Tyr1348His) c.3886T>C (p.Tyr1296His) c.4009T>C (p.Tyr1337His) n.612-19340A>G c.3655T>C (p.Tyr1219His) c.3298T>C (p.Tyr1100His) | |
2 | g.166228855A>T | CA349064039 | SCN1A-AS1,SCN9A | c.4042T>A (p.Tyr1348Asn) c.3886T>A (p.Tyr1296Asn) c.4009T>A (p.Tyr1337Asn) n.612-19340A>T c.3655T>A (p.Tyr1219Asn) c.3298T>A (p.Tyr1100Asn) | |
2 | g.166228856G>A | CA429899256 | SCN1A-AS1,SCN9A | c.4041C>T (p.Phe1347=) c.3885C>T (p.Phe1295=) c.4008C>T (p.Phe1336=) n.612-19339G>A c.3654C>T (p.Phe1218=) c.3297C>T (p.Phe1099=) | dbSNP gnomAD v2 |
2 | g.166228856G>C | CA349064045 | SCN1A-AS1,SCN9A | c.4041C>G (p.Phe1347Leu) c.3885C>G (p.Phe1295Leu) c.4008C>G (p.Phe1336Leu) n.612-19339G>C c.3654C>G (p.Phe1218Leu) c.3297C>G (p.Phe1099Leu) | |
2 | g.166228856G= | CA1304943680 | SCN1A-AS1,SCN9A | c.4041C= (p.Phe1347=) c.3885C= (p.Phe1295=) c.4008C= (p.Phe1336=) n.612-19339G= c.3654C= (p.Phe1218=) c.3297C= (p.Phe1099=) | |
2 | g.166228856G>T | CA349064053 | SCN1A-AS1,SCN9A | c.4041C>A (p.Phe1347Leu) c.3885C>A (p.Phe1295Leu) c.4008C>A (p.Phe1336Leu) n.612-19339G>T c.3654C>A (p.Phe1218Leu) c.3297C>A (p.Phe1099Leu) | |
2 | g.166228857A= | CA1304943681 | SCN1A-AS1,SCN9A | c.4040T= (p.Phe1347=) c.3884T= (p.Phe1295=) c.4007T= (p.Phe1336=) n.612-19338A= c.3653T= (p.Phe1218=) c.3296T= (p.Phe1099=) | |
2 | g.166228857A>C | CA349064060 | SCN1A-AS1,SCN9A | c.4040T>G (p.Phe1347Cys) c.3884T>G (p.Phe1295Cys) c.4007T>G (p.Phe1336Cys) n.612-19338A>C c.3653T>G (p.Phe1218Cys) c.3296T>G (p.Phe1099Cys) | |
2 | g.166228857A>G | CA349064057 | SCN1A-AS1,SCN9A | c.4040T>C (p.Phe1347Ser) c.3884T>C (p.Phe1295Ser) c.4007T>C (p.Phe1336Ser) n.612-19338A>G c.3653T>C (p.Phe1218Ser) c.3296T>C (p.Phe1099Ser) | ClinVar dbSNP |
2 | g.166228857A>T | CA349064058 | SCN1A-AS1,SCN9A | c.4040T>A (p.Phe1347Tyr) c.3884T>A (p.Phe1295Tyr) c.4007T>A (p.Phe1336Tyr) n.612-19338A>T c.3653T>A (p.Phe1218Tyr) c.3296T>A (p.Phe1099Tyr) | |
2 | g.166228858A>C | CA349064061 | SCN1A-AS1,SCN9A | c.4039T>G (p.Phe1347Val) c.3883T>G (p.Phe1295Val) c.4006T>G (p.Phe1336Val) n.612-19337A>C c.3652T>G (p.Phe1218Val) c.3295T>G (p.Phe1099Val) | |
2 | g.166228858A>G | CA349064063 | SCN1A-AS1,SCN9A | c.4039T>C (p.Phe1347Leu) c.3883T>C (p.Phe1295Leu) c.4006T>C (p.Phe1336Leu) n.612-19337A>G c.3652T>C (p.Phe1218Leu) c.3295T>C (p.Phe1099Leu) | |
2 | g.166228858A>T | CA349064065 | SCN1A-AS1,SCN9A | c.4039T>A (p.Phe1347Ile) c.3883T>A (p.Phe1295Ile) c.4006T>A (p.Phe1336Ile) n.612-19337A>T c.3652T>A (p.Phe1218Ile) c.3295T>A (p.Phe1099Ile) | |
2 | g.166228859C>A | CA349064068 | SCN1A-AS1,SCN9A | c.4038G>T (p.Lys1346Asn) c.3882G>T (p.Lys1294Asn) c.4005G>T (p.Lys1335Asn) n.612-19336C>A c.3651G>T (p.Lys1217Asn) c.3294G>T (p.Lys1098Asn) | |
2 | g.166228859C= | CA1304943682 | SCN1A-AS1,SCN9A | c.4038G= (p.Lys1346=) c.3882G= (p.Lys1294=) c.4005G= (p.Lys1335=) n.612-19336C= c.3651G= (p.Lys1217=) c.3294G= (p.Lys1098=) | |
2 | g.166228859C>G | CA349064071 | SCN1A-AS1,SCN9A | c.4038G>C (p.Lys1346Asn) c.3882G>C (p.Lys1294Asn) c.4005G>C (p.Lys1335Asn) n.612-19336C>G c.3651G>C (p.Lys1217Asn) c.3294G>C (p.Lys1098Asn) | |
2 | g.166228859C>T | CA429899260 | SCN1A-AS1,SCN9A | c.4038G>A (p.Lys1346=) c.3882G>A (p.Lys1294=) c.4005G>A (p.Lys1335=) n.612-19336C>T c.3651G>A (p.Lys1217=) c.3294G>A (p.Lys1098=) | dbSNP |
2 | g.166228860T>A | CA349064085 | SCN1A-AS1,SCN9A | c.4037A>T (p.Lys1346Met) c.3881A>T (p.Lys1294Met) c.4004A>T (p.Lys1335Met) n.612-19335T>A c.3650A>T (p.Lys1217Met) c.3293A>T (p.Lys1098Met) | |
2 | g.166228860T>C | CA349064077 | SCN1A-AS1,SCN9A | c.4037A>G (p.Lys1346Arg) c.3881A>G (p.Lys1294Arg) c.4004A>G (p.Lys1335Arg) n.612-19335T>C c.3650A>G (p.Lys1217Arg) c.3293A>G (p.Lys1098Arg) | ClinVar dbSNP |
2 | g.166228860T>G | CA349064080 | SCN1A-AS1,SCN9A | c.4037A>C (p.Lys1346Thr) c.3881A>C (p.Lys1294Thr) c.4004A>C (p.Lys1335Thr) n.612-19335T>G c.3650A>C (p.Lys1217Thr) c.3293A>C (p.Lys1098Thr) | |
2 | g.166228861T>A | CA349064087 | SCN1A-AS1,SCN9A | c.4036A>T (p.Lys1346Ter) c.3880A>T (p.Lys1294Ter) c.4003A>T (p.Lys1335Ter) n.612-19334T>A c.3649A>T (p.Lys1217Ter) c.3292A>T (p.Lys1098Ter) | dbSNP |
2 | g.166228861T>C | CA349064089 | SCN1A-AS1,SCN9A | c.4036A>G (p.Lys1346Glu) c.3880A>G (p.Lys1294Glu) c.4003A>G (p.Lys1335Glu) n.612-19334T>C c.3649A>G (p.Lys1217Glu) c.3292A>G (p.Lys1098Glu) | |
2 | g.166228861T>G | CA349064095 | SCN1A-AS1,SCN9A | c.4036A>C (p.Lys1346Gln) c.3880A>C (p.Lys1294Gln) c.4003A>C (p.Lys1335Gln) n.612-19334T>G c.3649A>C (p.Lys1217Gln) c.3292A>C (p.Lys1098Gln) | |
2 | g.166228861T= | CA1304943683 | SCN1A-AS1,SCN9A | c.4036A= (p.Lys1346=) c.3880A= (p.Lys1294=) c.4003A= (p.Lys1335=) n.612-19334T= c.3649A= (p.Lys1217=) c.3292A= (p.Lys1098=) | |
2 | g.166228862G>A | CA429899261 | SCN1A-AS1,SCN9A | c.4035C>T (p.Gly1345=) c.3879C>T (p.Gly1293=) c.4002C>T (p.Gly1334=) n.612-19333G>A c.3648C>T (p.Gly1216=) c.3291C>T (p.Gly1097=) | gnomAD v4 |
2 | g.166228862G>C | CA429899262 | SCN1A-AS1,SCN9A | c.4035C>G (p.Gly1345=) c.3879C>G (p.Gly1293=) c.4002C>G (p.Gly1334=) n.612-19333G>C c.3648C>G (p.Gly1216=) c.3291C>G (p.Gly1097=) | |
2 | g.166228862G= | CA1304943684 | SCN1A-AS1,SCN9A | c.4035C= (p.Gly1345=) c.3879C= (p.Gly1293=) c.4002C= (p.Gly1334=) n.612-19333G= c.3648C= (p.Gly1216=) c.3291C= (p.Gly1097=) | |
2 | g.166228862G>T | CA59810319 | SCN1A-AS1,SCN9A | c.4035C>A (p.Gly1345=) c.3879C>A (p.Gly1293=) c.4002C>A (p.Gly1334=) n.612-19333G>T c.3648C>A (p.Gly1216=) c.3291C>A (p.Gly1097=) | ClinVar dbSNP gnomAD v4 |
2 | g.166228863C>A | CA349064100 | SCN1A-AS1,SCN9A | c.4034G>T (p.Gly1345Val) c.3878G>T (p.Gly1293Val) c.4001G>T (p.Gly1334Val) n.612-19332C>A c.3647G>T (p.Gly1216Val) c.3290G>T (p.Gly1097Val) | |
2 | g.166228863C= | CA1304943685 | SCN1A-AS1,SCN9A | c.4034G= (p.Gly1345=) c.3878G= (p.Gly1293=) c.4001G= (p.Gly1334=) n.612-19332C= c.3647G= (p.Gly1216=) c.3290G= (p.Gly1097=) | |
2 | g.166228863C>G | CA349064104 | SCN1A-AS1,SCN9A | c.4034G>C (p.Gly1345Ala) c.3878G>C (p.Gly1293Ala) c.4001G>C (p.Gly1334Ala) n.612-19332C>G c.3647G>C (p.Gly1216Ala) c.3290G>C (p.Gly1097Ala) | |
2 | g.166228863C>T | CA59810321 | SCN1A-AS1,SCN9A | c.4034G>A (p.Gly1345Asp) c.3878G>A (p.Gly1293Asp) c.4001G>A (p.Gly1334Asp) n.612-19332C>T c.3647G>A (p.Gly1216Asp) c.3290G>A (p.Gly1097Asp) | dbSNP gnomAD v4 |
2 | g.166228864C>A | CA349064118 | SCN1A-AS1,SCN9A | c.4033G>T (p.Gly1345Cys) c.3877G>T (p.Gly1293Cys) c.4000G>T (p.Gly1334Cys) n.612-19331C>A c.3646G>T (p.Gly1216Cys) c.3289G>T (p.Gly1097Cys) | |
2 | g.166228864C>G | CA349064121 | SCN1A-AS1,SCN9A | c.4033G>C (p.Gly1345Arg) c.3877G>C (p.Gly1293Arg) c.4000G>C (p.Gly1334Arg) n.612-19331C>G c.3646G>C (p.Gly1216Arg) c.3289G>C (p.Gly1097Arg) | |
2 | g.166228864C>T | CA349064125 | SCN1A-AS1,SCN9A | c.4033G>A (p.Gly1345Ser) c.3877G>A (p.Gly1293Ser) c.4000G>A (p.Gly1334Ser) n.612-19331C>T c.3646G>A (p.Gly1216Ser) c.3289G>A (p.Gly1097Ser) | |
2 | g.166228865A>C | CA429899265 | SCN1A-AS1,SCN9A | c.4032T>G (p.Ala1344=) c.3876T>G (p.Ala1292=) c.3999T>G (p.Ala1333=) n.612-19330A>C c.3645T>G (p.Ala1215=) c.3288T>G (p.Ala1096=) | |
2 | g.166228865A>G | CA429899266 | SCN1A-AS1,SCN9A | c.4032T>C (p.Ala1344=) c.3876T>C (p.Ala1292=) c.3999T>C (p.Ala1333=) n.612-19330A>G c.3645T>C (p.Ala1215=) c.3288T>C (p.Ala1096=) | |
2 | g.166228865A>T | CA429899267 | SCN1A-AS1,SCN9A | c.4032T>A (p.Ala1344=) c.3876T>A (p.Ala1292=) c.3999T>A (p.Ala1333=) n.612-19330A>T c.3645T>A (p.Ala1215=) c.3288T>A (p.Ala1096=) | |
2 | g.166228866G>A | CA349064128 | SCN1A-AS1,SCN9A | c.4031C>T (p.Ala1344Val) c.3875C>T (p.Ala1292Val) c.3998C>T (p.Ala1333Val) n.612-19329G>A c.3644C>T (p.Ala1215Val) c.3287C>T (p.Ala1096Val) | |
2 | g.166228866G>C | CA349064131 | SCN1A-AS1,SCN9A | c.4031C>G (p.Ala1344Gly) c.3875C>G (p.Ala1292Gly) c.3998C>G (p.Ala1333Gly) n.612-19329G>C c.3644C>G (p.Ala1215Gly) c.3287C>G (p.Ala1096Gly) | |
2 | g.166228866G>T | CA349064134 | SCN1A-AS1,SCN9A | c.4031C>A (p.Ala1344Asp) c.3875C>A (p.Ala1292Asp) c.3998C>A (p.Ala1333Asp) n.612-19329G>T c.3644C>A (p.Ala1215Asp) c.3287C>A (p.Ala1096Asp) | |
2 | g.166228867C>A | CA1943961 | SCN1A-AS1,SCN9A | c.4030G>T (p.Ala1344Ser) c.3874G>T (p.Ala1292Ser) c.3997G>T (p.Ala1333Ser) n.612-19328C>A c.3643G>T (p.Ala1215Ser) c.3286G>T (p.Ala1096Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228867C= | CA1304943686 | SCN1A-AS1,SCN9A | c.4030G= (p.Ala1344=) c.3874G= (p.Ala1292=) c.3997G= (p.Ala1333=) n.612-19328C= c.3643G= (p.Ala1215=) c.3286G= (p.Ala1096=) | |
2 | g.166228867C>G | CA349064143 | SCN1A-AS1,SCN9A | c.4030G>C (p.Ala1344Pro) c.3874G>C (p.Ala1292Pro) c.3997G>C (p.Ala1333Pro) n.612-19328C>G c.3643G>C (p.Ala1215Pro) c.3286G>C (p.Ala1096Pro) | gnomAD v4 |
2 | g.166228867C>T | CA349064141 | SCN1A-AS1,SCN9A | c.4030G>A (p.Ala1344Thr) c.3874G>A (p.Ala1292Thr) c.3997G>A (p.Ala1333Thr) n.612-19328C>T c.3643G>A (p.Ala1215Thr) c.3286G>A (p.Ala1096Thr) | |
2 | g.166228868A>C | CA349064145 | SCN1A-AS1,SCN9A | c.4029T>G (p.Phe1343Leu) c.3873T>G (p.Phe1291Leu) c.3996T>G (p.Phe1332Leu) n.612-19327A>C c.3642T>G (p.Phe1214Leu) c.3285T>G (p.Phe1095Leu) | |
2 | g.166228868A>G | CA429899332 | SCN1A-AS1,SCN9A | c.4029T>C (p.Phe1343=) c.3873T>C (p.Phe1291=) c.3996T>C (p.Phe1332=) n.612-19327A>G c.3642T>C (p.Phe1214=) c.3285T>C (p.Phe1095=) | gnomAD v4 |
2 | g.166228868A>T | CA349064157 | SCN1A-AS1,SCN9A | c.4029T>A (p.Phe1343Leu) c.3873T>A (p.Phe1291Leu) c.3996T>A (p.Phe1332Leu) n.612-19327A>T c.3642T>A (p.Phe1214Leu) c.3285T>A (p.Phe1095Leu) | |
2 | g.166228869A>C | CA349064160 | SCN1A-AS1,SCN9A | c.4028T>G (p.Phe1343Cys) c.3872T>G (p.Phe1291Cys) c.3995T>G (p.Phe1332Cys) n.612-19326A>C c.3641T>G (p.Phe1214Cys) c.3284T>G (p.Phe1095Cys) | |
2 | g.166228869A>G | CA349064161 | SCN1A-AS1,SCN9A | c.4028T>C (p.Phe1343Ser) c.3872T>C (p.Phe1291Ser) c.3995T>C (p.Phe1332Ser) n.612-19326A>G c.3641T>C (p.Phe1214Ser) c.3284T>C (p.Phe1095Ser) | |
2 | g.166228869A>T | CA349064162 | SCN1A-AS1,SCN9A | c.4028T>A (p.Phe1343Tyr) c.3872T>A (p.Phe1291Tyr) c.3995T>A (p.Phe1332Tyr) n.612-19326A>T c.3641T>A (p.Phe1214Tyr) c.3284T>A (p.Phe1095Tyr) | |
2 | g.166228870A>C | CA349064163 | SCN1A-AS1,SCN9A | c.4027T>G (p.Phe1343Val) c.3871T>G (p.Phe1291Val) c.3994T>G (p.Phe1332Val) n.612-19325A>C c.3640T>G (p.Phe1214Val) c.3283T>G (p.Phe1095Val) | |
2 | g.166228870A>G | CA349064164 | SCN1A-AS1,SCN9A | c.4027T>C (p.Phe1343Leu) c.3871T>C (p.Phe1291Leu) c.3994T>C (p.Phe1332Leu) n.612-19325A>G c.3640T>C (p.Phe1214Leu) c.3283T>C (p.Phe1095Leu) | |
2 | g.166228870A>T | CA349064166 | SCN1A-AS1,SCN9A | c.4027T>A (p.Phe1343Ile) c.3871T>A (p.Phe1291Ile) c.3994T>A (p.Phe1332Ile) n.612-19325A>T c.3640T>A (p.Phe1214Ile) c.3283T>A (p.Phe1095Ile) | |
2 | g.166228870_166228871delinsAC | CA1304943687 | SCN1A-AS1,SCN9A | c.4026_4027delinsGT (p.Leu1342=) c.3870_3871delinsGT (p.Leu1290=) c.3993_3994delinsGT (p.Leu1331=) n.612-19325_612-19324delinsAC c.3639_3640delinsGT (p.Leu1213=) c.3282_3283delinsGT (p.Leu1094=) | |
2 | g.166228871C>A | CA59810326 | SCN1A-AS1,SCN9A | c.4026G>T (p.Leu1342Phe) c.3870G>T (p.Leu1290Phe) c.3993G>T (p.Leu1331Phe) n.612-19324C>A c.3639G>T (p.Leu1213Phe) c.3282G>T (p.Leu1094Phe) | dbSNP |
2 | g.166228871C= | CA1304943688 | SCN1A-AS1,SCN9A | c.4026G= (p.Leu1342=) c.3870G= (p.Leu1290=) c.3993G= (p.Leu1331=) n.612-19324C= c.3639G= (p.Leu1213=) c.3282G= (p.Leu1094=) | |
2 | g.166228871C>G | CA59810323 | SCN1A-AS1,SCN9A | c.4026G>C (p.Leu1342Phe) c.3870G>C (p.Leu1290Phe) c.3993G>C (p.Leu1331Phe) n.612-19324C>G c.3639G>C (p.Leu1213Phe) c.3282G>C (p.Leu1094Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228871C>T | CA429899336 | SCN1A-AS1,SCN9A | c.4026G>A (p.Leu1342=) c.3870G>A (p.Leu1290=) c.3993G>A (p.Leu1331=) n.612-19324C>T c.3639G>A (p.Leu1213=) c.3282G>A (p.Leu1094=) | |
2 | g.166228871delinsAA | CA171010 | SCN1A-AS1,SCN9A | c.4026delinsTT (p.Leu1342PhefsTer8) c.3870delinsTT (p.Leu1290PhefsTer8) c.3993delinsTT (p.Leu1331PhefsTer8) n.612-19324delinsAA c.3639delinsTT (p.Leu1213PhefsTer8) c.3282delinsTT (p.Leu1094PhefsTer8) | ClinVar dbSNP |
2 | g.166228872A= | CA1304943689 | SCN1A-AS1,SCN9A | c.4025T= (p.Leu1342=) c.3869T= (p.Leu1290=) c.3992T= (p.Leu1331=) n.612-19323A= c.3638T= (p.Leu1213=) c.3281T= (p.Leu1094=) | |
2 | g.166228872A>C | CA349064195 | SCN1A-AS1,SCN9A | c.4025T>G (p.Leu1342Trp) c.3869T>G (p.Leu1290Trp) c.3992T>G (p.Leu1331Trp) n.612-19323A>C c.3638T>G (p.Leu1213Trp) c.3281T>G (p.Leu1094Trp) | |
2 | g.166228872A>G | CA349064198 | SCN1A-AS1,SCN9A | c.4025T>C (p.Leu1342Ser) c.3869T>C (p.Leu1290Ser) c.3992T>C (p.Leu1331Ser) n.612-19323A>G c.3638T>C (p.Leu1213Ser) c.3281T>C (p.Leu1094Ser) | ClinVar dbSNP |
2 | g.166228872A>T | CA349064201 | SCN1A-AS1,SCN9A | c.4025T>A (p.Leu1342Ter) c.3869T>A (p.Leu1290Ter) c.3992T>A (p.Leu1331Ter) n.612-19323A>T c.3638T>A (p.Leu1213Ter) c.3281T>A (p.Leu1094Ter) | dbSNP |
2 | g.166228873A= | CA1304943690 | SCN1A-AS1,SCN9A | c.4024T= (p.Leu1342=) c.3868T= (p.Leu1290=) c.3991T= (p.Leu1331=) n.612-19322A= c.3637T= (p.Leu1213=) c.3280T= (p.Leu1094=) | |
2 | g.166228873A>C | CA349064206 | SCN1A-AS1,SCN9A | c.4024T>G (p.Leu1342Val) c.3868T>G (p.Leu1290Val) c.3991T>G (p.Leu1331Val) n.612-19322A>C c.3637T>G (p.Leu1213Val) c.3280T>G (p.Leu1094Val) | ClinVar dbSNP COSMIC COSMIC |
2 | g.166228873A>G | CA429899344 | SCN1A-AS1,SCN9A | c.4024T>C (p.Leu1342=) c.3868T>C (p.Leu1290=) c.3991T>C (p.Leu1331=) n.612-19322A>G c.3637T>C (p.Leu1213=) c.3280T>C (p.Leu1094=) | gnomAD v4 |
2 | g.166228873A>T | CA349064208 | SCN1A-AS1,SCN9A | c.4024T>A (p.Leu1342Met) c.3868T>A (p.Leu1290Met) c.3991T>A (p.Leu1331Met) n.612-19322A>T c.3637T>A (p.Leu1213Met) c.3280T>A (p.Leu1094Met) | |
2 | g.166228874A>C | CA349064212 | SCN1A-AS1,SCN9A | c.4023T>G (p.Asn1341Lys) c.3867T>G (p.Asn1289Lys) c.3990T>G (p.Asn1330Lys) n.612-19321A>C c.3636T>G (p.Asn1212Lys) c.3279T>G (p.Asn1093Lys) | COSMIC COSMIC |
2 | g.166228874A>G | CA429899346 | SCN1A-AS1,SCN9A | c.4023T>C (p.Asn1341=) c.3867T>C (p.Asn1289=) c.3990T>C (p.Asn1330=) n.612-19321A>G c.3636T>C (p.Asn1212=) c.3279T>C (p.Asn1093=) | |
2 | g.166228874A>T | CA349064215 | SCN1A-AS1,SCN9A | c.4023T>A (p.Asn1341Lys) c.3867T>A (p.Asn1289Lys) c.3990T>A (p.Asn1330Lys) n.612-19321A>T c.3636T>A (p.Asn1212Lys) c.3279T>A (p.Asn1093Lys) | |
2 | g.166228875T>A | CA349064221 | SCN1A-AS1,SCN9A | c.4022A>T (p.Asn1341Ile) c.3866A>T (p.Asn1289Ile) c.3989A>T (p.Asn1330Ile) n.612-19320T>A c.3635A>T (p.Asn1212Ile) c.3278A>T (p.Asn1093Ile) | |
2 | g.166228875T>C | CA349064226 | SCN1A-AS1,SCN9A | c.4022A>G (p.Asn1341Ser) c.3866A>G (p.Asn1289Ser) c.3989A>G (p.Asn1330Ser) n.612-19320T>C c.3635A>G (p.Asn1212Ser) c.3278A>G (p.Asn1093Ser) | |
2 | g.166228875T>G | CA349064228 | SCN1A-AS1,SCN9A | c.4022A>C (p.Asn1341Thr) c.3866A>C (p.Asn1289Thr) c.3989A>C (p.Asn1330Thr) n.612-19320T>G c.3635A>C (p.Asn1212Thr) c.3278A>C (p.Asn1093Thr) | |
2 | g.166228876T>A | CA349064231 | SCN1A-AS1,SCN9A | c.4021A>T (p.Asn1341Tyr) c.3865A>T (p.Asn1289Tyr) c.3988A>T (p.Asn1330Tyr) n.612-19319T>A c.3634A>T (p.Asn1212Tyr) c.3277A>T (p.Asn1093Tyr) | |
2 | g.166228876T>C | CA349064235 | SCN1A-AS1,SCN9A | c.4021A>G (p.Asn1341Asp) c.3865A>G (p.Asn1289Asp) c.3988A>G (p.Asn1330Asp) n.612-19319T>C c.3634A>G (p.Asn1212Asp) c.3277A>G (p.Asn1093Asp) | |
2 | g.166228876T>G | CA1943962 | SCN1A-AS1,SCN9A | c.4021A>C (p.Asn1341His) c.3865A>C (p.Asn1289His) c.3988A>C (p.Asn1330His) n.612-19319T>G c.3634A>C (p.Asn1212His) c.3277A>C (p.Asn1093His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228876T= | CA1304943691 | SCN1A-AS1,SCN9A | c.4021A= (p.Asn1341=) c.3865A= (p.Asn1289=) c.3988A= (p.Asn1330=) n.612-19319T= c.3634A= (p.Asn1212=) c.3277A= (p.Asn1093=) | |
2 | g.166228877T>A | CA429899347 | SCN1A-AS1,SCN9A | c.4020A>T (p.Val1340=) c.3864A>T (p.Val1288=) c.3987A>T (p.Val1329=) n.612-19318T>A c.3633A>T (p.Val1211=) c.3276A>T (p.Val1092=) | |
2 | g.166228877T>C | CA429899348 | SCN1A-AS1,SCN9A | c.4020A>G (p.Val1340=) c.3864A>G (p.Val1288=) c.3987A>G (p.Val1329=) n.612-19318T>C c.3633A>G (p.Val1211=) c.3276A>G (p.Val1092=) | |
2 | g.166228877T>G | CA429899349 | SCN1A-AS1,SCN9A | c.4020A>C (p.Val1340=) c.3864A>C (p.Val1288=) c.3987A>C (p.Val1329=) n.612-19318T>G c.3633A>C (p.Val1211=) c.3276A>C (p.Val1092=) | |
2 | g.166228878A>C | CA349064240 | SCN1A-AS1,SCN9A | c.4019T>G (p.Val1340Gly) c.3863T>G (p.Val1288Gly) c.3986T>G (p.Val1329Gly) n.612-19317A>C c.3632T>G (p.Val1211Gly) c.3275T>G (p.Val1092Gly) | |
2 | g.166228878A>G | CA349064241 | SCN1A-AS1,SCN9A | c.4019T>C (p.Val1340Ala) c.3863T>C (p.Val1288Ala) c.3986T>C (p.Val1329Ala) n.612-19317A>G c.3632T>C (p.Val1211Ala) c.3275T>C (p.Val1092Ala) | |
2 | g.166228878A>T | CA349064242 | SCN1A-AS1,SCN9A | c.4019T>A (p.Val1340Glu) c.3863T>A (p.Val1288Glu) c.3986T>A (p.Val1329Glu) n.612-19317A>T c.3632T>A (p.Val1211Glu) c.3275T>A (p.Val1092Glu) | |
2 | g.166228879C>A | CA349064247 | SCN1A-AS1,SCN9A | c.4018G>T (p.Val1340Leu) c.3862G>T (p.Val1288Leu) c.3985G>T (p.Val1329Leu) n.612-19316C>A c.3631G>T (p.Val1211Leu) c.3274G>T (p.Val1092Leu) | |
2 | g.166228879C>G | CA349064245 | SCN1A-AS1,SCN9A | c.4018G>C (p.Val1340Leu) c.3862G>C (p.Val1288Leu) c.3985G>C (p.Val1329Leu) n.612-19316C>G c.3631G>C (p.Val1211Leu) c.3274G>C (p.Val1092Leu) | |
2 | g.166228879C>T | CA349064243 | SCN1A-AS1,SCN9A | c.4018G>A (p.Val1340Ile) c.3862G>A (p.Val1288Ile) c.3985G>A (p.Val1329Ile) n.612-19316C>T c.3631G>A (p.Val1211Ile) c.3274G>A (p.Val1092Ile) | gnomAD v4 |
2 | g.166228880T>A | CA429899351 | SCN1A-AS1,SCN9A | c.4017A>T (p.Gly1339=) c.3861A>T (p.Gly1287=) c.3984A>T (p.Gly1328=) n.612-19315T>A c.3630A>T (p.Gly1210=) c.3273A>T (p.Gly1091=) | |
2 | g.166228880T>C | CA429899352 | SCN1A-AS1,SCN9A | c.4017A>G (p.Gly1339=) c.3861A>G (p.Gly1287=) c.3984A>G (p.Gly1328=) n.612-19315T>C c.3630A>G (p.Gly1210=) c.3273A>G (p.Gly1091=) | |
2 | g.166228880T>G | CA429899353 | SCN1A-AS1,SCN9A | c.4017A>C (p.Gly1339=) c.3861A>C (p.Gly1287=) c.3984A>C (p.Gly1328=) n.612-19315T>G c.3630A>C (p.Gly1210=) c.3273A>C (p.Gly1091=) | |
2 | g.166228881C>A | CA349064250 | SCN1A-AS1,SCN9A | c.4016G>T (p.Gly1339Val) c.3860G>T (p.Gly1287Val) c.3983G>T (p.Gly1328Val) n.612-19314C>A c.3629G>T (p.Gly1210Val) c.3272G>T (p.Gly1091Val) | |
2 | g.166228881C= | CA1304943692 | SCN1A-AS1,SCN9A | c.4016G= (p.Gly1339=) c.3860G= (p.Gly1287=) c.3983G= (p.Gly1328=) n.612-19314C= c.3629G= (p.Gly1210=) c.3272G= (p.Gly1091=) | |
2 | g.166228881C>G | CA349064251 | SCN1A-AS1,SCN9A | c.4016G>C (p.Gly1339Ala) c.3860G>C (p.Gly1287Ala) c.3983G>C (p.Gly1328Ala) n.612-19314C>G c.3629G>C (p.Gly1210Ala) c.3272G>C (p.Gly1091Ala) | |
2 | g.166228881C>T | CA59810333 | SCN1A-AS1,SCN9A | c.4016G>A (p.Gly1339Glu) c.3860G>A (p.Gly1287Glu) c.3983G>A (p.Gly1328Glu) n.612-19314C>T c.3629G>A (p.Gly1210Glu) c.3272G>A (p.Gly1091Glu) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.166228882C>A | CA349064252 | SCN1A-AS1,SCN9A | c.4015G>T (p.Gly1339Ter) c.3859G>T (p.Gly1287Ter) c.3982G>T (p.Gly1328Ter) n.612-19313C>A c.3628G>T (p.Gly1210Ter) c.3271G>T (p.Gly1091Ter) | dbSNP |
2 | g.166228882C= | CA1304943693 | SCN1A-AS1,SCN9A | c.4015G= (p.Gly1339=) c.3859G= (p.Gly1287=) c.3982G= (p.Gly1328=) n.612-19313C= c.3628G= (p.Gly1210=) c.3271G= (p.Gly1091=) | |
2 | g.166228882C>G | CA349064253 | SCN1A-AS1,SCN9A | c.4015G>C (p.Gly1339Arg) c.3859G>C (p.Gly1287Arg) c.3982G>C (p.Gly1328Arg) n.612-19313C>G c.3628G>C (p.Gly1210Arg) c.3271G>C (p.Gly1091Arg) | |
2 | g.166228882C>T | CA349064254 | SCN1A-AS1,SCN9A | c.4015G>A (p.Gly1339Arg) c.3859G>A (p.Gly1287Arg) c.3982G>A (p.Gly1328Arg) n.612-19313C>T c.3628G>A (p.Gly1210Arg) c.3271G>A (p.Gly1091Arg) | |
2 | g.166228883C>A | CA349064255 | SCN1A-AS1,SCN9A | c.4014G>T (p.Met1338Ile) c.3858G>T (p.Met1286Ile) c.3981G>T (p.Met1327Ile) n.612-19312C>A c.3627G>T (p.Met1209Ile) c.3270G>T (p.Met1090Ile) | |
2 | g.166228883C>G | CA349064256 | SCN1A-AS1,SCN9A | c.4014G>C (p.Met1338Ile) c.3858G>C (p.Met1286Ile) c.3981G>C (p.Met1327Ile) n.612-19312C>G c.3627G>C (p.Met1209Ile) c.3270G>C (p.Met1090Ile) | |
2 | g.166228883C>T | CA349064257 | SCN1A-AS1,SCN9A | c.4014G>A (p.Met1338Ile) c.3858G>A (p.Met1286Ile) c.3981G>A (p.Met1327Ile) n.612-19312C>T c.3627G>A (p.Met1209Ile) c.3270G>A (p.Met1090Ile) | |
2 | g.166228884A>C | CA349064258 | SCN1A-AS1,SCN9A | c.4013T>G (p.Met1338Arg) c.3857T>G (p.Met1286Arg) c.3980T>G (p.Met1327Arg) n.612-19311A>C c.3626T>G (p.Met1209Arg) c.3269T>G (p.Met1090Arg) | |
2 | g.166228884A>G | CA349064259 | SCN1A-AS1,SCN9A | c.4013T>C (p.Met1338Thr) c.3857T>C (p.Met1286Thr) c.3980T>C (p.Met1327Thr) n.612-19311A>G c.3626T>C (p.Met1209Thr) c.3269T>C (p.Met1090Thr) | |
2 | g.166228884A>T | CA349064260 | SCN1A-AS1,SCN9A | c.4013T>A (p.Met1338Lys) c.3857T>A (p.Met1286Lys) c.3980T>A (p.Met1327Lys) n.612-19311A>T c.3626T>A (p.Met1209Lys) c.3269T>A (p.Met1090Lys) | |
2 | g.166228885T>A | CA349064261 | SCN1A-AS1,SCN9A | c.4012A>T (p.Met1338Leu) c.3856A>T (p.Met1286Leu) c.3979A>T (p.Met1327Leu) n.612-19310T>A c.3625A>T (p.Met1209Leu) c.3268A>T (p.Met1090Leu) | gnomAD v4 |
2 | g.166228885T>C | CA59810336 | SCN1A-AS1,SCN9A | c.4012A>G (p.Met1338Val) c.3856A>G (p.Met1286Val) c.3979A>G (p.Met1327Val) n.612-19310T>C c.3625A>G (p.Met1209Val) c.3268A>G (p.Met1090Val) | ClinVar dbSNP |
2 | g.166228885T>G | CA349064262 | SCN1A-AS1,SCN9A | c.4012A>C (p.Met1338Leu) c.3856A>C (p.Met1286Leu) c.3979A>C (p.Met1327Leu) n.612-19310T>G c.3625A>C (p.Met1209Leu) c.3268A>C (p.Met1090Leu) | |
2 | g.166228885T= | CA1304943694 | SCN1A-AS1,SCN9A | c.4012A= (p.Met1338=) c.3856A= (p.Met1286=) c.3979A= (p.Met1327=) n.612-19310T= c.3625A= (p.Met1209=) c.3268A= (p.Met1090=) | |
2 | g.166228886G>A | CA429899358 | SCN1A-AS1,SCN9A | c.4011C>T (p.Ile1337=) c.3855C>T (p.Ile1285=) c.3978C>T (p.Ile1326=) n.612-19309G>A c.3624C>T (p.Ile1208=) c.3267C>T (p.Ile1089=) | |
2 | g.166228886G>C | CA349064263 | SCN1A-AS1,SCN9A | c.4011C>G (p.Ile1337Met) c.3855C>G (p.Ile1285Met) c.3978C>G (p.Ile1326Met) n.612-19309G>C c.3624C>G (p.Ile1208Met) c.3267C>G (p.Ile1089Met) | |
2 | g.166228886G>T | CA429899360 | SCN1A-AS1,SCN9A | c.4011C>A (p.Ile1337=) c.3855C>A (p.Ile1285=) c.3978C>A (p.Ile1326=) n.612-19309G>T c.3624C>A (p.Ile1208=) c.3267C>A (p.Ile1089=) | |
2 | g.166228887A>C | CA349064266 | SCN1A-AS1,SCN9A | c.4010T>G (p.Ile1337Ser) c.3854T>G (p.Ile1285Ser) c.3977T>G (p.Ile1326Ser) n.612-19308A>C c.3623T>G (p.Ile1208Ser) c.3266T>G (p.Ile1089Ser) | |
2 | g.166228887A>G | CA349064265 | SCN1A-AS1,SCN9A | c.4010T>C (p.Ile1337Thr) c.3854T>C (p.Ile1285Thr) c.3977T>C (p.Ile1326Thr) n.612-19308A>G c.3623T>C (p.Ile1208Thr) c.3266T>C (p.Ile1089Thr) | |
2 | g.166228887A>T | CA349064264 | SCN1A-AS1,SCN9A | c.4010T>A (p.Ile1337Asn) c.3854T>A (p.Ile1285Asn) c.3977T>A (p.Ile1326Asn) n.612-19308A>T c.3623T>A (p.Ile1208Asn) c.3266T>A (p.Ile1089Asn) | |
2 | g.166228888T>A | CA349064267 | SCN1A-AS1,SCN9A | c.4009A>T (p.Ile1337Phe) c.3853A>T (p.Ile1285Phe) c.3976A>T (p.Ile1326Phe) n.612-19307T>A c.3622A>T (p.Ile1208Phe) c.3265A>T (p.Ile1089Phe) | |
2 | g.166228888T>C | CA1943963 | SCN1A-AS1,SCN9A | c.4009A>G (p.Ile1337Val) c.3853A>G (p.Ile1285Val) c.3976A>G (p.Ile1326Val) n.612-19307T>C c.3622A>G (p.Ile1208Val) c.3265A>G (p.Ile1089Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228888T>G | CA1943964 | SCN1A-AS1,SCN9A | c.4009A>C (p.Ile1337Leu) c.3853A>C (p.Ile1285Leu) c.3976A>C (p.Ile1326Leu) n.612-19307T>G c.3622A>C (p.Ile1208Leu) c.3265A>C (p.Ile1089Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228888T= | CA1304943695 | SCN1A-AS1,SCN9A | c.4009A= (p.Ile1337=) c.3853A= (p.Ile1285=) c.3976A= (p.Ile1326=) n.612-19307T= c.3622A= (p.Ile1208=) c.3265A= (p.Ile1089=) | |
2 | g.166228889G>A | CA429899361 | SCN1A-AS1,SCN9A | c.4008C>T (p.Ser1336=) c.3852C>T (p.Ser1284=) c.3975C>T (p.Ser1325=) n.612-19306G>A c.3621C>T (p.Ser1207=) c.3264C>T (p.Ser1088=) | ClinVar dbSNP |
2 | g.166228889G>C | CA349064268 | SCN1A-AS1,SCN9A | c.4008C>G (p.Ser1336Arg) c.3852C>G (p.Ser1284Arg) c.3975C>G (p.Ser1325Arg) n.612-19306G>C c.3621C>G (p.Ser1207Arg) c.3264C>G (p.Ser1088Arg) | |
2 | g.166228889G= | CA1304943696 | SCN1A-AS1,SCN9A | c.4008C= (p.Ser1336=) c.3852C= (p.Ser1284=) c.3975C= (p.Ser1325=) n.612-19306G= c.3621C= (p.Ser1207=) c.3264C= (p.Ser1088=) | |
2 | g.166228889G>T | CA349064269 | SCN1A-AS1,SCN9A | c.4008C>A (p.Ser1336Arg) c.3852C>A (p.Ser1284Arg) c.3975C>A (p.Ser1325Arg) n.612-19306G>T c.3621C>A (p.Ser1207Arg) c.3264C>A (p.Ser1088Arg) | |
2 | g.166228890C>A | CA349064270 | SCN1A-AS1,SCN9A | c.4007G>T (p.Ser1336Ile) c.3851G>T (p.Ser1284Ile) c.3974G>T (p.Ser1325Ile) n.612-19305C>A c.3620G>T (p.Ser1207Ile) c.3263G>T (p.Ser1088Ile) | |
2 | g.166228890C>G | CA349064271 | SCN1A-AS1,SCN9A | c.4007G>C (p.Ser1336Thr) c.3851G>C (p.Ser1284Thr) c.3974G>C (p.Ser1325Thr) n.612-19305C>G c.3620G>C (p.Ser1207Thr) c.3263G>C (p.Ser1088Thr) | |
2 | g.166228890C>T | CA349064272 | SCN1A-AS1,SCN9A | c.4007G>A (p.Ser1336Asn) c.3851G>A (p.Ser1284Asn) c.3974G>A (p.Ser1325Asn) n.612-19305C>T c.3620G>A (p.Ser1207Asn) c.3263G>A (p.Ser1088Asn) | |
2 | g.166228891T>A | CA349064273 | SCN1A-AS1,SCN9A | c.4006A>T (p.Ser1336Cys) c.3850A>T (p.Ser1284Cys) c.3973A>T (p.Ser1325Cys) n.612-19304T>A c.3619A>T (p.Ser1207Cys) c.3262A>T (p.Ser1088Cys) | |
2 | g.166228891T>C | CA349064274 | SCN1A-AS1,SCN9A | c.4006A>G (p.Ser1336Gly) c.3850A>G (p.Ser1284Gly) c.3973A>G (p.Ser1325Gly) n.612-19304T>C c.3619A>G (p.Ser1207Gly) c.3262A>G (p.Ser1088Gly) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.166228891T>G | CA349064275 | SCN1A-AS1,SCN9A | c.4006A>C (p.Ser1336Arg) c.3850A>C (p.Ser1284Arg) c.3973A>C (p.Ser1325Arg) n.612-19304T>G c.3619A>C (p.Ser1207Arg) c.3262A>C (p.Ser1088Arg) | |
2 | g.166228891T= | CA1304943697 | SCN1A-AS1,SCN9A | c.4006A= (p.Ser1336=) c.3850A= (p.Ser1284=) c.3973A= (p.Ser1325=) n.612-19304T= c.3619A= (p.Ser1207=) c.3262A= (p.Ser1088=) | |
2 | g.166228892G>A | CA429899367 | SCN1A-AS1,SCN9A | c.4005C>T (p.Phe1335=) c.3849C>T (p.Phe1283=) c.3972C>T (p.Phe1324=) n.612-19303G>A c.3618C>T (p.Phe1206=) c.3261C>T (p.Phe1087=) | |
2 | g.166228892G>C | CA349064276 | SCN1A-AS1,SCN9A | c.4005C>G (p.Phe1335Leu) c.3849C>G (p.Phe1283Leu) c.3972C>G (p.Phe1324Leu) n.612-19303G>C c.3618C>G (p.Phe1206Leu) c.3261C>G (p.Phe1087Leu) | ClinVar gnomAD v4 |
2 | g.166228892G>T | CA349064279 | SCN1A-AS1,SCN9A | c.4005C>A (p.Phe1335Leu) c.3849C>A (p.Phe1283Leu) c.3972C>A (p.Phe1324Leu) n.612-19303G>T c.3618C>A (p.Phe1206Leu) c.3261C>A (p.Phe1087Leu) | |
2 | g.166228893A>C | CA349064281 | SCN1A-AS1,SCN9A | c.4004T>G (p.Phe1335Cys) c.3848T>G (p.Phe1283Cys) c.3971T>G (p.Phe1324Cys) n.612-19302A>C c.3617T>G (p.Phe1206Cys) c.3260T>G (p.Phe1087Cys) | |
2 | g.166228893A>G | CA349064282 | SCN1A-AS1,SCN9A | c.4004T>C (p.Phe1335Ser) c.3848T>C (p.Phe1283Ser) c.3971T>C (p.Phe1324Ser) n.612-19302A>G c.3617T>C (p.Phe1206Ser) c.3260T>C (p.Phe1087Ser) | |
2 | g.166228893A>T | CA349064280 | SCN1A-AS1,SCN9A | c.4004T>A (p.Phe1335Tyr) c.3848T>A (p.Phe1283Tyr) c.3971T>A (p.Phe1324Tyr) n.612-19302A>T c.3617T>A (p.Phe1206Tyr) c.3260T>A (p.Phe1087Tyr) | |
2 | g.166228894A>C | CA349064283 | SCN1A-AS1,SCN9A | c.4003T>G (p.Phe1335Val) c.3847T>G (p.Phe1283Val) c.3970T>G (p.Phe1324Val) n.612-19301A>C c.3616T>G (p.Phe1206Val) c.3259T>G (p.Phe1087Val) | |
2 | g.166228894A>G | CA349064284 | SCN1A-AS1,SCN9A | c.4003T>C (p.Phe1335Leu) c.3847T>C (p.Phe1283Leu) c.3970T>C (p.Phe1324Leu) n.612-19301A>G c.3616T>C (p.Phe1206Leu) c.3259T>C (p.Phe1087Leu) | |
2 | g.166228894A>T | CA349064307 | SCN1A-AS1,SCN9A | c.4003T>A (p.Phe1335Ile) c.3847T>A (p.Phe1283Ile) c.3970T>A (p.Phe1324Ile) n.612-19301A>T c.3616T>A (p.Phe1206Ile) c.3259T>A (p.Phe1087Ile) | |
2 | g.166228895T>A | CA429899369 | SCN1A-AS1,SCN9A | c.4002A>T (p.Ile1334=) c.3846A>T (p.Ile1282=) c.3969A>T (p.Ile1323=) n.612-19300T>A c.3615A>T (p.Ile1205=) c.3258A>T (p.Ile1086=) | |
2 | g.166228895T>C | CA349064313 | SCN1A-AS1,SCN9A | c.4002A>G (p.Ile1334Met) c.3846A>G (p.Ile1282Met) c.3969A>G (p.Ile1323Met) n.612-19300T>C c.3615A>G (p.Ile1205Met) c.3258A>G (p.Ile1086Met) | |
2 | g.166228895T>G | CA429899370 | SCN1A-AS1,SCN9A | c.4002A>C (p.Ile1334=) c.3846A>C (p.Ile1282=) c.3969A>C (p.Ile1323=) n.612-19300T>G c.3615A>C (p.Ile1205=) c.3258A>C (p.Ile1086=) | |
2 | g.166228896A>C | CA349064316 | SCN1A-AS1,SCN9A | c.4001T>G (p.Ile1334Arg) c.3845T>G (p.Ile1282Arg) c.3968T>G (p.Ile1323Arg) n.612-19299A>C c.3614T>G (p.Ile1205Arg) c.3257T>G (p.Ile1086Arg) | |
2 | g.166228896A>G | CA349064319 | SCN1A-AS1,SCN9A | c.4001T>C (p.Ile1334Thr) c.3845T>C (p.Ile1282Thr) c.3968T>C (p.Ile1323Thr) n.612-19299A>G c.3614T>C (p.Ile1205Thr) c.3257T>C (p.Ile1086Thr) | gnomAD v4 |
2 | g.166228896A>T | CA349064322 | SCN1A-AS1,SCN9A | c.4001T>A (p.Ile1334Lys) c.3845T>A (p.Ile1282Lys) c.3968T>A (p.Ile1323Lys) n.612-19299A>T c.3614T>A (p.Ile1205Lys) c.3257T>A (p.Ile1086Lys) | |
2 | g.166228897T>A | CA349064326 | SCN1A-AS1,SCN9A | c.4000A>T (p.Ile1334Leu) c.3844A>T (p.Ile1282Leu) c.3967A>T (p.Ile1323Leu) n.612-19298T>A c.3613A>T (p.Ile1205Leu) c.3256A>T (p.Ile1086Leu) | |
2 | g.166228897T>C | CA349064329 | SCN1A-AS1,SCN9A | c.4000A>G (p.Ile1334Val) c.3844A>G (p.Ile1282Val) c.3967A>G (p.Ile1323Val) n.612-19298T>C c.3613A>G (p.Ile1205Val) c.3256A>G (p.Ile1086Val) | |
2 | g.166228897T>G | CA349064336 | SCN1A-AS1,SCN9A | c.4000A>C (p.Ile1334Leu) c.3844A>C (p.Ile1282Leu) c.3967A>C (p.Ile1323Leu) n.612-19298T>G c.3613A>C (p.Ile1205Leu) c.3256A>C (p.Ile1086Leu) | |
2 | g.166228898C>A | CA429899372 | SCN1A-AS1,SCN9A | c.3999G>T (p.Leu1333=) c.3843G>T (p.Leu1281=) c.3966G>T (p.Leu1322=) n.612-19297C>A c.3612G>T (p.Leu1204=) c.3255G>T (p.Leu1085=) | |
2 | g.166228898C>G | CA429899373 | SCN1A-AS1,SCN9A | c.3999G>C (p.Leu1333=) c.3843G>C (p.Leu1281=) c.3966G>C (p.Leu1322=) n.612-19297C>G c.3612G>C (p.Leu1204=) c.3255G>C (p.Leu1085=) | |
2 | g.166228898C>T | CA429899374 | SCN1A-AS1,SCN9A | c.3999G>A (p.Leu1333=) c.3843G>A (p.Leu1281=) c.3966G>A (p.Leu1322=) n.612-19297C>T c.3612G>A (p.Leu1204=) c.3255G>A (p.Leu1085=) | |
2 | g.166228899A>C | CA349064340 | SCN1A-AS1,SCN9A | c.3998T>G (p.Leu1333Arg) c.3842T>G (p.Leu1281Arg) c.3965T>G (p.Leu1322Arg) n.612-19296A>C c.3611T>G (p.Leu1204Arg) c.3254T>G (p.Leu1085Arg) | |
2 | g.166228899A>G | CA349064342 | SCN1A-AS1,SCN9A | c.3998T>C (p.Leu1333Pro) c.3842T>C (p.Leu1281Pro) c.3965T>C (p.Leu1322Pro) n.612-19296A>G c.3611T>C (p.Leu1204Pro) c.3254T>C (p.Leu1085Pro) | |
2 | g.166228899A>T | CA349064344 | SCN1A-AS1,SCN9A | c.3998T>A (p.Leu1333Gln) c.3842T>A (p.Leu1281Gln) c.3965T>A (p.Leu1322Gln) n.612-19296A>T c.3611T>A (p.Leu1204Gln) c.3254T>A (p.Leu1085Gln) | |
2 | g.166228900G>A | CA429899377 | SCN1A-AS1,SCN9A | c.3997C>T (p.Leu1333=) c.3841C>T (p.Leu1281=) c.3964C>T (p.Leu1322=) n.612-19295G>A c.3610C>T (p.Leu1204=) c.3253C>T (p.Leu1085=) | ClinVar dbSNP gnomAD v4 |
2 | g.166228900G>C | CA349064347 | SCN1A-AS1,SCN9A | c.3997C>G (p.Leu1333Val) c.3841C>G (p.Leu1281Val) c.3964C>G (p.Leu1322Val) n.612-19295G>C c.3610C>G (p.Leu1204Val) c.3253C>G (p.Leu1085Val) | ClinVar |
2 | g.166228900G= | CA1304943698 | SCN1A-AS1,SCN9A | c.3997C= (p.Leu1333=) c.3841C= (p.Leu1281=) c.3964C= (p.Leu1322=) n.612-19295G= c.3610C= (p.Leu1204=) c.3253C= (p.Leu1085=) | |
2 | g.166228900G>T | CA349064349 | SCN1A-AS1,SCN9A | c.3997C>A (p.Leu1333Met) c.3841C>A (p.Leu1281Met) c.3964C>A (p.Leu1322Met) n.612-19295G>T c.3610C>A (p.Leu1204Met) c.3253C>A (p.Leu1085Met) | |
2 | g.166228901C>A | CA349064351 | SCN1A-AS1,SCN9A | c.3996G>T (p.Trp1332Cys) c.3840G>T (p.Trp1280Cys) c.3963G>T (p.Trp1321Cys) n.612-19294C>A c.3609G>T (p.Trp1203Cys) c.3252G>T (p.Trp1084Cys) | ClinVar dbSNP |
2 | g.166228901C= | CA1304943699 | SCN1A-AS1,SCN9A | c.3996G= (p.Trp1332=) c.3840G= (p.Trp1280=) c.3963G= (p.Trp1321=) n.612-19294C= c.3609G= (p.Trp1203=) c.3252G= (p.Trp1084=) | |
2 | g.166228901C>G | CA349064355 | SCN1A-AS1,SCN9A | c.3996G>C (p.Trp1332Cys) c.3840G>C (p.Trp1280Cys) c.3963G>C (p.Trp1321Cys) n.612-19294C>G c.3609G>C (p.Trp1203Cys) c.3252G>C (p.Trp1084Cys) | |
2 | g.166228901C>T | CA349064359 | SCN1A-AS1,SCN9A | c.3996G>A (p.Trp1332Ter) c.3840G>A (p.Trp1280Ter) c.3963G>A (p.Trp1321Ter) n.612-19294C>T c.3609G>A (p.Trp1203Ter) c.3252G>A (p.Trp1084Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.166228902C>A | CA349064362 | SCN1A-AS1,SCN9A | c.3995G>T (p.Trp1332Leu) c.3839G>T (p.Trp1280Leu) c.3962G>T (p.Trp1321Leu) n.612-19293C>A c.3608G>T (p.Trp1203Leu) c.3251G>T (p.Trp1084Leu) | |
2 | g.166228902C= | CA1304943700 | SCN1A-AS1,SCN9A | c.3995G= (p.Trp1332=) c.3839G= (p.Trp1280=) c.3962G= (p.Trp1321=) n.612-19293C= c.3608G= (p.Trp1203=) c.3251G= (p.Trp1084=) | |
2 | g.166228902C>G | CA349064366 | SCN1A-AS1,SCN9A | c.3995G>C (p.Trp1332Ser) c.3839G>C (p.Trp1280Ser) c.3962G>C (p.Trp1321Ser) n.612-19293C>G c.3608G>C (p.Trp1203Ser) c.3251G>C (p.Trp1084Ser) | |
2 | g.166228902C>T | CA349064370 | SCN1A-AS1,SCN9A | c.3995G>A (p.Trp1332Ter) c.3839G>A (p.Trp1280Ter) c.3962G>A (p.Trp1321Ter) n.612-19293C>T c.3608G>A (p.Trp1203Ter) c.3251G>A (p.Trp1084Ter) | ClinVar dbSNP |
2 | g.166228903A>C | CA349064372 | SCN1A-AS1,SCN9A | c.3994T>G (p.Trp1332Gly) c.3838T>G (p.Trp1280Gly) c.3961T>G (p.Trp1321Gly) n.612-19292A>C c.3607T>G (p.Trp1203Gly) c.3250T>G (p.Trp1084Gly) | |
2 | g.166228903A>G | CA349064376 | SCN1A-AS1,SCN9A | c.3994T>C (p.Trp1332Arg) c.3838T>C (p.Trp1280Arg) c.3961T>C (p.Trp1321Arg) n.612-19292A>G c.3607T>C (p.Trp1203Arg) c.3250T>C (p.Trp1084Arg) | |
2 | g.166228903A>T | CA349064378 | SCN1A-AS1,SCN9A | c.3994T>A (p.Trp1332Arg) c.3838T>A (p.Trp1280Arg) c.3961T>A (p.Trp1321Arg) n.612-19292A>T c.3607T>A (p.Trp1203Arg) c.3250T>A (p.Trp1084Arg) | |
2 | g.166228904G>A | CA429899378 | SCN1A-AS1,SCN9A | c.3993C>T (p.Phe1331=) c.3837C>T (p.Phe1279=) c.3960C>T (p.Phe1320=) n.612-19291G>A c.3606C>T (p.Phe1202=) c.3249C>T (p.Phe1083=) | gnomAD v4 |
2 | g.166228904G>C | CA349064382 | SCN1A-AS1,SCN9A | c.3993C>G (p.Phe1331Leu) c.3837C>G (p.Phe1279Leu) c.3960C>G (p.Phe1320Leu) n.612-19291G>C c.3606C>G (p.Phe1202Leu) c.3249C>G (p.Phe1083Leu) | gnomAD v4 |
2 | g.166228904G>T | CA349064384 | SCN1A-AS1,SCN9A | c.3993C>A (p.Phe1331Leu) c.3837C>A (p.Phe1279Leu) c.3960C>A (p.Phe1320Leu) n.612-19291G>T c.3606C>A (p.Phe1202Leu) c.3249C>A (p.Phe1083Leu) | |
2 | g.166228905A= | CA1304943701 | SCN1A-AS1,SCN9A | c.3992T= (p.Phe1331=) c.3836T= (p.Phe1279=) c.3959T= (p.Phe1320=) n.612-19290A= c.3605T= (p.Phe1202=) c.3248T= (p.Phe1083=) | |
2 | g.166228905A>C | CA349064405 | SCN1A-AS1,SCN9A | c.3992T>G (p.Phe1331Cys) c.3836T>G (p.Phe1279Cys) c.3959T>G (p.Phe1320Cys) n.612-19290A>C c.3605T>G (p.Phe1202Cys) c.3248T>G (p.Phe1083Cys) | |
2 | g.166228905A>G | CA349064393 | SCN1A-AS1,SCN9A | c.3992T>C (p.Phe1331Ser) c.3836T>C (p.Phe1279Ser) c.3959T>C (p.Phe1320Ser) n.612-19290A>G c.3605T>C (p.Phe1202Ser) c.3248T>C (p.Phe1083Ser) | dbSNP gnomAD v4 |
2 | g.166228905A>T | CA349064388 | SCN1A-AS1,SCN9A | c.3992T>A (p.Phe1331Tyr) c.3836T>A (p.Phe1279Tyr) c.3959T>A (p.Phe1320Tyr) n.612-19290A>T c.3605T>A (p.Phe1202Tyr) c.3248T>A (p.Phe1083Tyr) | |
2 | g.166228906A>C | CA349064409 | SCN1A-AS1,SCN9A | c.3991T>G (p.Phe1331Val) c.3835T>G (p.Phe1279Val) c.3958T>G (p.Phe1320Val) n.612-19289A>C c.3604T>G (p.Phe1202Val) c.3247T>G (p.Phe1083Val) | gnomAD v4 |
2 | g.166228906A>G | CA349064415 | SCN1A-AS1,SCN9A | c.3991T>C (p.Phe1331Leu) c.3835T>C (p.Phe1279Leu) c.3958T>C (p.Phe1320Leu) n.612-19289A>G c.3604T>C (p.Phe1202Leu) c.3247T>C (p.Phe1083Leu) | |
2 | g.166228906A>T | CA349064411 | SCN1A-AS1,SCN9A | c.3991T>A (p.Phe1331Ile) c.3835T>A (p.Phe1279Ile) c.3958T>A (p.Phe1320Ile) n.612-19289A>T c.3604T>A (p.Phe1202Ile) c.3247T>A (p.Phe1083Ile) | |
2 | g.166228907T>A | CA429899380 | SCN1A-AS1,SCN9A | c.3990A>T (p.Ile1330=) c.3834A>T (p.Ile1278=) c.3957A>T (p.Ile1319=) n.612-19288T>A c.3603A>T (p.Ile1201=) c.3246A>T (p.Ile1082=) | |
2 | g.166228907T>C | CA349064417 | SCN1A-AS1,SCN9A | c.3990A>G (p.Ile1330Met) c.3834A>G (p.Ile1278Met) c.3957A>G (p.Ile1319Met) n.612-19288T>C c.3603A>G (p.Ile1201Met) c.3246A>G (p.Ile1082Met) | |
2 | g.166228907T>G | CA429899381 | SCN1A-AS1,SCN9A | c.3990A>C (p.Ile1330=) c.3834A>C (p.Ile1278=) c.3957A>C (p.Ile1319=) n.612-19288T>G c.3603A>C (p.Ile1201=) c.3246A>C (p.Ile1082=) | |
2 | g.166228908A>C | CA349064419 | SCN1A-AS1,SCN9A | c.3989T>G (p.Ile1330Arg) c.3833T>G (p.Ile1278Arg) c.3956T>G (p.Ile1319Arg) n.612-19287A>C c.3602T>G (p.Ile1201Arg) c.3245T>G (p.Ile1082Arg) | |
2 | g.166228908A>G | CA349064423 | SCN1A-AS1,SCN9A | c.3989T>C (p.Ile1330Thr) c.3833T>C (p.Ile1278Thr) c.3956T>C (p.Ile1319Thr) n.612-19287A>G c.3602T>C (p.Ile1201Thr) c.3245T>C (p.Ile1082Thr) | ClinVar |
2 | g.166228908A>T | CA349064425 | SCN1A-AS1,SCN9A | c.3989T>A (p.Ile1330Lys) c.3833T>A (p.Ile1278Lys) c.3956T>A (p.Ile1319Lys) n.612-19287A>T c.3602T>A (p.Ile1201Lys) c.3245T>A (p.Ile1082Lys) |