Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38556464_38556466delCA2586965720SCN5Ac.4411_4413del (p.Asn1471del)
c.4414_4416del (p.Asn1472del)
c.4360_4362del (p.Asn1454del)
c.4252_4254del (p.Asn1418del)
c.4285_4287del (p.Asn1429del)
c.4357_4359del (p.Asn1453del)
3g.38556465G>ACA433136019SCN5Ac.4410C>T (p.Asp1470=)
c.4413C>T (p.Asp1471=)
c.4359C>T (p.Asp1453=)
c.4251C>T (p.Asp1417=)
c.4284C>T (p.Asp1428=)
c.4356C>T (p.Asp1452=)
 ClinVar
3g.38556465G>CCA352145263SCN5Ac.4410C>G (p.Asp1470Glu)
c.4413C>G (p.Asp1471Glu)
c.4359C>G (p.Asp1453Glu)
c.4251C>G (p.Asp1417Glu)
c.4284C>G (p.Asp1428Glu)
c.4356C>G (p.Asp1452Glu)
3g.38556465G>TCA352145264SCN5Ac.4410C>A (p.Asp1470Glu)
c.4413C>A (p.Asp1471Glu)
c.4359C>A (p.Asp1453Glu)
c.4251C>A (p.Asp1417Glu)
c.4284C>A (p.Asp1428Glu)
c.4356C>A (p.Asp1452Glu)
 gnomAD v4
3g.38556466T>ACA352145266SCN5Ac.4409A>T (p.Asp1470Val)
c.4412A>T (p.Asp1471Val)
c.4358A>T (p.Asp1453Val)
c.4250A>T (p.Asp1417Val)
c.4283A>T (p.Asp1428Val)
c.4355A>T (p.Asp1452Val)
3g.38556466T>CCA72943317SCN5Ac.4409A>G (p.Asp1470Gly)
c.4412A>G (p.Asp1471Gly)
c.4358A>G (p.Asp1453Gly)
c.4250A>G (p.Asp1417Gly)
c.4283A>G (p.Asp1428Gly)
c.4355A>G (p.Asp1452Gly)
 dbSNP
3g.38556466T>GCA352145265SCN5Ac.4409A>C (p.Asp1470Ala)
c.4412A>C (p.Asp1471Ala)
c.4358A>C (p.Asp1453Ala)
c.4250A>C (p.Asp1417Ala)
c.4283A>C (p.Asp1428Ala)
c.4355A>C (p.Asp1452Ala)
3g.38556466T=CA1358563432SCN5Ac.4409A= (p.Asp1470=)
c.4412A= (p.Asp1471=)
c.4358A= (p.Asp1453=)
c.4250A= (p.Asp1417=)
c.4283A= (p.Asp1428=)
c.4355A= (p.Asp1452=)
3g.38556467C>ACA352145267SCN5Ac.4408G>T (p.Asp1470Tyr)
c.4411G>T (p.Asp1471Tyr)
c.4357G>T (p.Asp1453Tyr)
c.4249G>T (p.Asp1417Tyr)
c.4282G>T (p.Asp1428Tyr)
c.4354G>T (p.Asp1452Tyr)
 gnomAD v4
3g.38556467C>GCA352145268SCN5Ac.4408G>C (p.Asp1470His)
c.4411G>C (p.Asp1471His)
c.4357G>C (p.Asp1453His)
c.4249G>C (p.Asp1417His)
c.4282G>C (p.Asp1428His)
c.4354G>C (p.Asp1452His)
3g.38556467C>TCA352145269SCN5Ac.4408G>A (p.Asp1470Asn)
c.4411G>A (p.Asp1471Asn)
c.4357G>A (p.Asp1453Asn)
c.4249G>A (p.Asp1417Asn)
c.4282G>A (p.Asp1428Asn)
c.4354G>A (p.Asp1452Asn)
3g.38556468A=CA1358563435SCN5Ac.4407T= (p.Ile1469=)
c.4410T= (p.Ile1470=)
c.4356T= (p.Ile1452=)
c.4248T= (p.Ile1416=)
c.4281T= (p.Ile1427=)
c.4353T= (p.Ile1451=)
3g.38556468A>CCA352145270SCN5Ac.4407T>G (p.Ile1469Met)
c.4410T>G (p.Ile1470Met)
c.4356T>G (p.Ile1452Met)
c.4248T>G (p.Ile1416Met)
c.4281T>G (p.Ile1427Met)
c.4353T>G (p.Ile1451Met)
3g.38556468A>GCA433136020SCN5Ac.4407T>C (p.Ile1469=)
c.4410T>C (p.Ile1470=)
c.4356T>C (p.Ile1452=)
c.4248T>C (p.Ile1416=)
c.4281T>C (p.Ile1427=)
c.4353T>C (p.Ile1451=)
3g.38556468A>TCA063166SCN5Ac.4407T>A (p.Ile1469=)
c.4410T>A (p.Ile1470=)
c.4356T>A (p.Ile1452=)
c.4248T>A (p.Ile1416=)
c.4281T>A (p.Ile1427=)
c.4353T>A (p.Ile1451=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556469A=CA1358563436SCN5Ac.4406T= (p.Ile1469=)
c.4409T= (p.Ile1470=)
c.4355T= (p.Ile1452=)
c.4247T= (p.Ile1416=)
c.4280T= (p.Ile1427=)
c.4352T= (p.Ile1451=)
3g.38556469A>CCA352145271SCN5Ac.4406T>G (p.Ile1469Ser)
c.4409T>G (p.Ile1470Ser)
c.4355T>G (p.Ile1452Ser)
c.4247T>G (p.Ile1416Ser)
c.4280T>G (p.Ile1427Ser)
c.4352T>G (p.Ile1451Ser)
3g.38556469A>GCA018232SCN5Ac.4406T>C (p.Ile1469Thr)
c.4409T>C (p.Ile1470Thr)
c.4355T>C (p.Ile1452Thr)
c.4247T>C (p.Ile1416Thr)
c.4280T>C (p.Ile1427Thr)
c.4352T>C (p.Ile1451Thr)
 ClinVar dbSNP gnomAD v4
3g.38556469A>TCA352145272SCN5Ac.4406T>A (p.Ile1469Asn)
c.4409T>A (p.Ile1470Asn)
c.4355T>A (p.Ile1452Asn)
c.4247T>A (p.Ile1416Asn)
c.4280T>A (p.Ile1427Asn)
c.4352T>A (p.Ile1451Asn)
3g.38556470T>ACA352145273SCN5Ac.4405A>T (p.Ile1469Phe)
c.4408A>T (p.Ile1470Phe)
c.4354A>T (p.Ile1452Phe)
c.4246A>T (p.Ile1416Phe)
c.4279A>T (p.Ile1427Phe)
c.4351A>T (p.Ile1451Phe)
3g.38556470T>CCA352145274SCN5Ac.4405A>G (p.Ile1469Val)
c.4408A>G (p.Ile1470Val)
c.4354A>G (p.Ile1452Val)
c.4246A>G (p.Ile1416Val)
c.4279A>G (p.Ile1427Val)
c.4351A>G (p.Ile1451Val)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38556470T>GCA352145275SCN5Ac.4405A>C (p.Ile1469Leu)
c.4408A>C (p.Ile1470Leu)
c.4354A>C (p.Ile1452Leu)
c.4246A>C (p.Ile1416Leu)
c.4279A>C (p.Ile1427Leu)
c.4351A>C (p.Ile1451Leu)
3g.38556470T=CA1358563438SCN5Ac.4405A= (p.Ile1469=)
c.4408A= (p.Ile1470=)
c.4354A= (p.Ile1452=)
c.4246A= (p.Ile1416=)
c.4279A= (p.Ile1427=)
c.4351A= (p.Ile1451=)
3g.38556471G>ACA433136022SCN5Ac.4404C>T (p.Ile1468=)
c.4407C>T (p.Ile1469=)
c.4353C>T (p.Ile1451=)
c.4245C>T (p.Ile1415=)
c.4278C>T (p.Ile1426=)
c.4350C>T (p.Ile1450=)
 COSMIC COSMIC COSMIC
3g.38556471G>CCA352145276SCN5Ac.4404C>G (p.Ile1468Met)
c.4407C>G (p.Ile1469Met)
c.4353C>G (p.Ile1451Met)
c.4245C>G (p.Ile1415Met)
c.4278C>G (p.Ile1426Met)
c.4350C>G (p.Ile1450Met)
3g.38556471G=CA1358563440SCN5Ac.4404C= (p.Ile1468=)
c.4407C= (p.Ile1469=)
c.4353C= (p.Ile1451=)
c.4245C= (p.Ile1415=)
c.4278C= (p.Ile1426=)
c.4350C= (p.Ile1450=)
3g.38556471G>TCA433136023SCN5Ac.4404C>A (p.Ile1468=)
c.4407C>A (p.Ile1469=)
c.4353C>A (p.Ile1451=)
c.4245C>A (p.Ile1415=)
c.4278C>A (p.Ile1426=)
c.4350C>A (p.Ile1450=)
 dbSNP gnomAD v2 gnomAD v4
3g.38556472A>CCA352145278SCN5Ac.4403T>G (p.Ile1468Ser)
c.4406T>G (p.Ile1469Ser)
c.4352T>G (p.Ile1451Ser)
c.4244T>G (p.Ile1415Ser)
c.4277T>G (p.Ile1426Ser)
c.4349T>G (p.Ile1450Ser)
3g.38556472A>GCA352145279SCN5Ac.4403T>C (p.Ile1468Thr)
c.4406T>C (p.Ile1469Thr)
c.4352T>C (p.Ile1451Thr)
c.4244T>C (p.Ile1415Thr)
c.4277T>C (p.Ile1426Thr)
c.4349T>C (p.Ile1450Thr)
 ClinVar dbSNP gnomAD v4
3g.38556472A>TCA352145277SCN5Ac.4403T>A (p.Ile1468Asn)
c.4406T>A (p.Ile1469Asn)
c.4352T>A (p.Ile1451Asn)
c.4244T>A (p.Ile1415Asn)
c.4277T>A (p.Ile1426Asn)
c.4349T>A (p.Ile1450Asn)
3g.38556473T>ACA018226SCN5Ac.4402A>T (p.Ile1468Phe)
c.4405A>T (p.Ile1469Phe)
c.4351A>T (p.Ile1451Phe)
c.4243A>T (p.Ile1415Phe)
c.4276A>T (p.Ile1426Phe)
c.4348A>T (p.Ile1450Phe)
 ClinVar dbSNP
3g.38556473T>CCA352145280SCN5Ac.4402A>G (p.Ile1468Val)
c.4405A>G (p.Ile1469Val)
c.4351A>G (p.Ile1451Val)
c.4243A>G (p.Ile1415Val)
c.4276A>G (p.Ile1426Val)
c.4348A>G (p.Ile1450Val)
 dbSNP gnomAD v2 gnomAD v4
3g.38556473T>GCA352145281SCN5Ac.4402A>C (p.Ile1468Leu)
c.4405A>C (p.Ile1469Leu)
c.4351A>C (p.Ile1451Leu)
c.4243A>C (p.Ile1415Leu)
c.4276A>C (p.Ile1426Leu)
c.4348A>C (p.Ile1450Leu)
3g.38556473T=CA1358563442SCN5Ac.4402A= (p.Ile1468=)
c.4405A= (p.Ile1469=)
c.4351A= (p.Ile1451=)
c.4243A= (p.Ile1415=)
c.4276A= (p.Ile1426=)
c.4348A= (p.Ile1450=)
3g.38556473_38556476delCA2586965722SCN5Ac.4399_4402del (p.Val1467SerfsTer12)
c.4402_4405del (p.Val1468SerfsTer12)
c.4348_4351del (p.Val1450SerfsTer12)
c.4240_4243del (p.Val1414SerfsTer12)
c.4273_4276del (p.Val1425SerfsTer12)
c.4345_4348del (p.Val1449SerfsTer12)
3g.38556474G>ACA063160SCN5Ac.4401C>T (p.Val1467=)
c.4404C>T (p.Val1468=)
c.4350C>T (p.Val1450=)
c.4242C>T (p.Val1414=)
c.4275C>T (p.Val1425=)
c.4347C>T (p.Val1449=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556474G>CCA433136025SCN5Ac.4401C>G (p.Val1467=)
c.4404C>G (p.Val1468=)
c.4350C>G (p.Val1450=)
c.4242C>G (p.Val1414=)
c.4275C>G (p.Val1425=)
c.4347C>G (p.Val1449=)
3g.38556474G=CA1358563444SCN5Ac.4401C= (p.Val1467=)
c.4404C= (p.Val1468=)
c.4350C= (p.Val1450=)
c.4242C= (p.Val1414=)
c.4275C= (p.Val1425=)
c.4347C= (p.Val1449=)
3g.38556474G>TCA433136026SCN5Ac.4401C>A (p.Val1467=)
c.4404C>A (p.Val1468=)
c.4350C>A (p.Val1450=)
c.4242C>A (p.Val1414=)
c.4275C>A (p.Val1425=)
c.4347C>A (p.Val1449=)
 gnomAD v4
3g.38556475delCA2665110974SCN5Ac.4400del (p.Val1467AlafsTer13)
c.4403del (p.Val1468AlafsTer13)
c.4349del (p.Val1450AlafsTer13)
c.4241del (p.Val1414AlafsTer13)
c.4274del (p.Val1425AlafsTer13)
c.4346del (p.Val1449AlafsTer13)
 gnomAD v4
3g.38556475A=CA1358563447SCN5Ac.4400T= (p.Val1467=)
c.4403T= (p.Val1468=)
c.4349T= (p.Val1450=)
c.4241T= (p.Val1414=)
c.4274T= (p.Val1425=)
c.4346T= (p.Val1449=)
3g.38556475A>CCA352145282SCN5Ac.4400T>G (p.Val1467Gly)
c.4403T>G (p.Val1468Gly)
c.4349T>G (p.Val1450Gly)
c.4241T>G (p.Val1414Gly)
c.4274T>G (p.Val1425Gly)
c.4346T>G (p.Val1449Gly)
3g.38556475A>GCA018220SCN5Ac.4400T>C (p.Val1467Ala)
c.4403T>C (p.Val1468Ala)
c.4349T>C (p.Val1450Ala)
c.4241T>C (p.Val1414Ala)
c.4274T>C (p.Val1425Ala)
c.4346T>C (p.Val1449Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38556475A>TCA352145283SCN5Ac.4400T>A (p.Val1467Asp)
c.4403T>A (p.Val1468Asp)
c.4349T>A (p.Val1450Asp)
c.4241T>A (p.Val1414Asp)
c.4274T>A (p.Val1425Asp)
c.4346T>A (p.Val1449Asp)
3g.38556476C>ACA018214SCN5Ac.4399G>T (p.Val1467Phe)
c.4402G>T (p.Val1468Phe)
c.4348G>T (p.Val1450Phe)
c.4240G>T (p.Val1414Phe)
c.4273G>T (p.Val1425Phe)
c.4345G>T (p.Val1449Phe)
 ClinVar dbSNP gnomAD v4
3g.38556476C=CA1358563450SCN5Ac.4399G= (p.Val1467=)
c.4402G= (p.Val1468=)
c.4348G= (p.Val1450=)
c.4240G= (p.Val1414=)
c.4273G= (p.Val1425=)
c.4345G= (p.Val1449=)
3g.38556476C>GCA352145284SCN5Ac.4399G>C (p.Val1467Leu)
c.4402G>C (p.Val1468Leu)
c.4348G>C (p.Val1450Leu)
c.4240G>C (p.Val1414Leu)
c.4273G>C (p.Val1425Leu)
c.4345G>C (p.Val1449Leu)
3g.38556476C>TCA352145285SCN5Ac.4399G>A (p.Val1467Ile)
c.4402G>A (p.Val1468Ile)
c.4348G>A (p.Val1450Ile)
c.4240G>A (p.Val1414Ile)
c.4273G>A (p.Val1425Ile)
c.4345G>A (p.Val1449Ile)
3g.38556477A>CCA433136028SCN5Ac.4398T>G (p.Gly1466=)
c.4401T>G (p.Gly1467=)
c.4347T>G (p.Gly1449=)
c.4239T>G (p.Gly1413=)
c.4272T>G (p.Gly1424=)
c.4344T>G (p.Gly1448=)
 ClinVar
3g.38556477A>GCA433136029SCN5Ac.4398T>C (p.Gly1466=)
c.4401T>C (p.Gly1467=)
c.4347T>C (p.Gly1449=)
c.4239T>C (p.Gly1413=)
c.4272T>C (p.Gly1424=)
c.4344T>C (p.Gly1448=)
 ClinVar
3g.38556477A>TCA433136030SCN5Ac.4398T>A (p.Gly1466=)
c.4401T>A (p.Gly1467=)
c.4347T>A (p.Gly1449=)
c.4239T>A (p.Gly1413=)
c.4272T>A (p.Gly1424=)
c.4344T>A (p.Gly1448=)
3g.38556478C>ACA352145286SCN5Ac.4397G>T (p.Gly1466Val)
c.4400G>T (p.Gly1467Val)
c.4346G>T (p.Gly1449Val)
c.4238G>T (p.Gly1413Val)
c.4271G>T (p.Gly1424Val)
c.4343G>T (p.Gly1448Val)
3g.38556478C>GCA352145287SCN5Ac.4397G>C (p.Gly1466Ala)
c.4400G>C (p.Gly1467Ala)
c.4346G>C (p.Gly1449Ala)
c.4238G>C (p.Gly1413Ala)
c.4271G>C (p.Gly1424Ala)
c.4343G>C (p.Gly1448Ala)
3g.38556478C>TCA352145288SCN5Ac.4397G>A (p.Gly1466Asp)
c.4400G>A (p.Gly1467Asp)
c.4346G>A (p.Gly1449Asp)
c.4238G>A (p.Gly1413Asp)
c.4271G>A (p.Gly1424Asp)
c.4343G>A (p.Gly1448Asp)
3g.38556479C>ACA352145291SCN5Ac.4396G>T (p.Gly1466Cys)
c.4399G>T (p.Gly1467Cys)
c.4345G>T (p.Gly1449Cys)
c.4237G>T (p.Gly1413Cys)
c.4270G>T (p.Gly1424Cys)
c.4342G>T (p.Gly1448Cys)
3g.38556479C>GCA352145290SCN5Ac.4396G>C (p.Gly1466Arg)
c.4399G>C (p.Gly1467Arg)
c.4345G>C (p.Gly1449Arg)
c.4237G>C (p.Gly1413Arg)
c.4270G>C (p.Gly1424Arg)
c.4342G>C (p.Gly1448Arg)
3g.38556479C>TCA352145289SCN5Ac.4396G>A (p.Gly1466Ser)
c.4399G>A (p.Gly1467Ser)
c.4345G>A (p.Gly1449Ser)
c.4237G>A (p.Gly1413Ser)
c.4270G>A (p.Gly1424Ser)
c.4342G>A (p.Gly1448Ser)
 gnomAD v4
3g.38556480A>CCA352145292SCN5Ac.4395T>G (p.Ile1465Met)
c.4398T>G (p.Ile1466Met)
c.4344T>G (p.Ile1448Met)
c.4236T>G (p.Ile1412Met)
c.4269T>G (p.Ile1423Met)
c.4341T>G (p.Ile1447Met)
3g.38556480A>GCA433136034SCN5Ac.4395T>C (p.Ile1465=)
c.4398T>C (p.Ile1466=)
c.4344T>C (p.Ile1448=)
c.4236T>C (p.Ile1412=)
c.4269T>C (p.Ile1423=)
c.4341T>C (p.Ile1447=)
3g.38556480A>TCA433136035SCN5Ac.4395T>A (p.Ile1465=)
c.4398T>A (p.Ile1466=)
c.4344T>A (p.Ile1448=)
c.4236T>A (p.Ile1412=)
c.4269T>A (p.Ile1423=)
c.4341T>A (p.Ile1447=)
3g.38556481A=CA1358563452SCN5Ac.4394T= (p.Ile1465=)
c.4397T= (p.Ile1466=)
c.4343T= (p.Ile1448=)
c.4235T= (p.Ile1412=)
c.4268T= (p.Ile1423=)
c.4340T= (p.Ile1447=)
3g.38556481A>CCA352145293SCN5Ac.4394T>G (p.Ile1465Ser)
c.4397T>G (p.Ile1466Ser)
c.4343T>G (p.Ile1448Ser)
c.4235T>G (p.Ile1412Ser)
c.4268T>G (p.Ile1423Ser)
c.4340T>G (p.Ile1447Ser)
3g.38556481A>GCA018207SCN5Ac.4394T>C (p.Ile1465Thr)
c.4397T>C (p.Ile1466Thr)
c.4343T>C (p.Ile1448Thr)
c.4235T>C (p.Ile1412Thr)
c.4268T>C (p.Ile1423Thr)
c.4340T>C (p.Ile1447Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38556481A>TCA352145294SCN5Ac.4394T>A (p.Ile1465Asn)
c.4397T>A (p.Ile1466Asn)
c.4343T>A (p.Ile1448Asn)
c.4235T>A (p.Ile1412Asn)
c.4268T>A (p.Ile1423Asn)
c.4340T>A (p.Ile1447Asn)
3g.38556481_38556482delinsATCA1358563453SCN5Ac.4393_4394delinsAT (p.Ile1465=)
c.4396_4397delinsAT (p.Ile1466=)
c.4342_4343delinsAT (p.Ile1448=)
c.4234_4235delinsAT (p.Ile1412=)
c.4267_4268delinsAT (p.Ile1423=)
c.4339_4340delinsAT (p.Ile1447=)
3g.38556482delCA913188102SCN5Ac.4393del (p.Ile1465LeufsTer15)
c.4396del (p.Ile1466LeufsTer15)
c.4342del (p.Ile1448LeufsTer15)
c.4234del (p.Ile1412LeufsTer15)
c.4267del (p.Ile1423LeufsTer15)
c.4339del (p.Ile1447LeufsTer15)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38556482T>ACA352145295SCN5Ac.4393A>T (p.Ile1465Phe)
c.4396A>T (p.Ile1466Phe)
c.4342A>T (p.Ile1448Phe)
c.4234A>T (p.Ile1412Phe)
c.4267A>T (p.Ile1423Phe)
c.4339A>T (p.Ile1447Phe)
 COSMIC COSMIC COSMIC
3g.38556482T>CCA018201SCN5Ac.4393A>G (p.Ile1465Val)
c.4396A>G (p.Ile1466Val)
c.4342A>G (p.Ile1448Val)
c.4234A>G (p.Ile1412Val)
c.4267A>G (p.Ile1423Val)
c.4339A>G (p.Ile1447Val)
 ClinVar dbSNP
3g.38556482T>GCA352145296SCN5Ac.4393A>C (p.Ile1465Leu)
c.4396A>C (p.Ile1466Leu)
c.4342A>C (p.Ile1448Leu)
c.4234A>C (p.Ile1412Leu)
c.4267A>C (p.Ile1423Leu)
c.4339A>C (p.Ile1447Leu)
3g.38556482T=CA1358563455SCN5Ac.4393A= (p.Ile1465=)
c.4396A= (p.Ile1466=)
c.4342A= (p.Ile1448=)
c.4234A= (p.Ile1412=)
c.4267A= (p.Ile1423=)
c.4339A= (p.Ile1447=)
3g.38556483_38556490delCA2586965724SCN5Ac.4386_4393del (p.Leu1463TrpfsTer5)
c.4389_4396del (p.Leu1464TrpfsTer5)
c.4335_4342del (p.Leu1446TrpfsTer5)
c.4227_4234del (p.Leu1410TrpfsTer5)
c.4260_4267del (p.Leu1421TrpfsTer5)
c.4332_4339del (p.Leu1445TrpfsTer5)
3g.38556483A>CCA352145297SCN5Ac.4392T>G (p.Phe1464Leu)
c.4395T>G (p.Phe1465Leu)
c.4341T>G (p.Phe1447Leu)
c.4233T>G (p.Phe1411Leu)
c.4266T>G (p.Phe1422Leu)
c.4338T>G (p.Phe1446Leu)
3g.38556483A>GCA433136043SCN5Ac.4392T>C (p.Phe1464=)
c.4395T>C (p.Phe1465=)
c.4341T>C (p.Phe1447=)
c.4233T>C (p.Phe1411=)
c.4266T>C (p.Phe1422=)
c.4338T>C (p.Phe1446=)
3g.38556483A>TCA352145298SCN5Ac.4392T>A (p.Phe1464Leu)
c.4395T>A (p.Phe1465Leu)
c.4341T>A (p.Phe1447Leu)
c.4233T>A (p.Phe1411Leu)
c.4266T>A (p.Phe1422Leu)
c.4338T>A (p.Phe1446Leu)
3g.38556484A>CCA352145299SCN5Ac.4391T>G (p.Phe1464Cys)
c.4394T>G (p.Phe1465Cys)
c.4340T>G (p.Phe1447Cys)
c.4232T>G (p.Phe1411Cys)
c.4265T>G (p.Phe1422Cys)
c.4337T>G (p.Phe1446Cys)
3g.38556484A>GCA352145300SCN5Ac.4391T>C (p.Phe1464Ser)
c.4394T>C (p.Phe1465Ser)
c.4340T>C (p.Phe1447Ser)
c.4232T>C (p.Phe1411Ser)
c.4265T>C (p.Phe1422Ser)
c.4337T>C (p.Phe1446Ser)
3g.38556484A>TCA352145301SCN5Ac.4391T>A (p.Phe1464Tyr)
c.4394T>A (p.Phe1465Tyr)
c.4340T>A (p.Phe1447Tyr)
c.4232T>A (p.Phe1411Tyr)
c.4265T>A (p.Phe1422Tyr)
c.4337T>A (p.Phe1446Tyr)
3g.38556485A=CA1358563457SCN5Ac.4390T= (p.Phe1464=)
c.4393T= (p.Phe1465=)
c.4339T= (p.Phe1447=)
c.4231T= (p.Phe1411=)
c.4264T= (p.Phe1422=)
c.4336T= (p.Phe1446=)
3g.38556485A>CCA352145302SCN5Ac.4390T>G (p.Phe1464Val)
c.4393T>G (p.Phe1465Val)
c.4339T>G (p.Phe1447Val)
c.4231T>G (p.Phe1411Val)
c.4264T>G (p.Phe1422Val)
c.4336T>G (p.Phe1446Val)
3g.38556485A>GCA352145304SCN5Ac.4390T>C (p.Phe1464Leu)
c.4393T>C (p.Phe1465Leu)
c.4339T>C (p.Phe1447Leu)
c.4231T>C (p.Phe1411Leu)
c.4264T>C (p.Phe1422Leu)
c.4336T>C (p.Phe1446Leu)
 ClinVar dbSNP
3g.38556485A>TCA352145303SCN5Ac.4390T>A (p.Phe1464Ile)
c.4393T>A (p.Phe1465Ile)
c.4339T>A (p.Phe1447Ile)
c.4231T>A (p.Phe1411Ile)
c.4264T>A (p.Phe1422Ile)
c.4336T>A (p.Phe1446Ile)
3g.38556486G>ACA433136048SCN5Ac.4389C>T (p.Leu1463=)
c.4392C>T (p.Leu1464=)
c.4338C>T (p.Leu1446=)
c.4230C>T (p.Leu1410=)
c.4263C>T (p.Leu1421=)
c.4335C>T (p.Leu1445=)
 gnomAD v4
3g.38556486G>CCA433136049SCN5Ac.4389C>G (p.Leu1463=)
c.4392C>G (p.Leu1464=)
c.4338C>G (p.Leu1446=)
c.4230C>G (p.Leu1410=)
c.4263C>G (p.Leu1421=)
c.4335C>G (p.Leu1445=)
3g.38556486G>TCA433136047SCN5Ac.4389C>A (p.Leu1463=)
c.4392C>A (p.Leu1464=)
c.4338C>A (p.Leu1446=)
c.4230C>A (p.Leu1410=)
c.4263C>A (p.Leu1421=)
c.4335C>A (p.Leu1445=)
3g.38556487A=CA1358563458SCN5Ac.4388T= (p.Leu1463=)
c.4391T= (p.Leu1464=)
c.4337T= (p.Leu1446=)
c.4229T= (p.Leu1410=)
c.4262T= (p.Leu1421=)
c.4334T= (p.Leu1445=)
3g.38556487A>CCA352145305SCN5Ac.4388T>G (p.Leu1463Arg)
c.4391T>G (p.Leu1464Arg)
c.4337T>G (p.Leu1446Arg)
c.4229T>G (p.Leu1410Arg)
c.4262T>G (p.Leu1421Arg)
c.4334T>G (p.Leu1445Arg)
3g.38556487A>GCA352145307SCN5Ac.4388T>C (p.Leu1463Pro)
c.4391T>C (p.Leu1464Pro)
c.4337T>C (p.Leu1446Pro)
c.4229T>C (p.Leu1410Pro)
c.4262T>C (p.Leu1421Pro)
c.4334T>C (p.Leu1445Pro)
 dbSNP gnomAD v2 gnomAD v4
3g.38556487A>TCA352145306SCN5Ac.4388T>A (p.Leu1463His)
c.4391T>A (p.Leu1464His)
c.4337T>A (p.Leu1446His)
c.4229T>A (p.Leu1410His)
c.4262T>A (p.Leu1421His)
c.4334T>A (p.Leu1445His)
3g.38556488G>ACA352145308SCN5Ac.4387C>T (p.Leu1463Phe)
c.4390C>T (p.Leu1464Phe)
c.4336C>T (p.Leu1446Phe)
c.4228C>T (p.Leu1410Phe)
c.4261C>T (p.Leu1421Phe)
c.4333C>T (p.Leu1445Phe)
3g.38556488G>CCA352145310SCN5Ac.4387C>G (p.Leu1463Val)
c.4390C>G (p.Leu1464Val)
c.4336C>G (p.Leu1446Val)
c.4228C>G (p.Leu1410Val)
c.4261C>G (p.Leu1421Val)
c.4333C>G (p.Leu1445Val)
3g.38556488G>TCA352145309SCN5Ac.4387C>A (p.Leu1463Ile)
c.4390C>A (p.Leu1464Ile)
c.4336C>A (p.Leu1446Ile)
c.4228C>A (p.Leu1410Ile)
c.4261C>A (p.Leu1421Ile)
c.4333C>A (p.Leu1445Ile)
3g.38556489G>ACA433136053SCN5Ac.4386C>T (p.Asn1462=)
c.4389C>T (p.Asn1463=)
c.4335C>T (p.Asn1445=)
c.4227C>T (p.Asn1409=)
c.4260C>T (p.Asn1420=)
c.4332C>T (p.Asn1444=)
3g.38556489G>CCA352145311SCN5Ac.4386C>G (p.Asn1462Lys)
c.4389C>G (p.Asn1463Lys)
c.4335C>G (p.Asn1445Lys)
c.4227C>G (p.Asn1409Lys)
c.4260C>G (p.Asn1420Lys)
c.4332C>G (p.Asn1444Lys)
3g.38556489G=CA1358563459SCN5Ac.4386C= (p.Asn1462=)
c.4389C= (p.Asn1463=)
c.4335C= (p.Asn1445=)
c.4227C= (p.Asn1409=)
c.4260C= (p.Asn1420=)
c.4332C= (p.Asn1444=)
3g.38556489G>TCA16617945SCN5Ac.4386C>A (p.Asn1462Lys)
c.4389C>A (p.Asn1463Lys)
c.4335C>A (p.Asn1445Lys)
c.4227C>A (p.Asn1409Lys)
c.4260C>A (p.Asn1420Lys)
c.4332C>A (p.Asn1444Lys)
 ClinVar dbSNP
3g.38556490T>ACA352145312SCN5Ac.4385A>T (p.Asn1462Ile)
c.4388A>T (p.Asn1463Ile)
c.4334A>T (p.Asn1445Ile)
c.4226A>T (p.Asn1409Ile)
c.4259A>T (p.Asn1420Ile)
c.4331A>T (p.Asn1444Ile)
3g.38556490T>CCA352145314SCN5Ac.4385A>G (p.Asn1462Ser)
c.4388A>G (p.Asn1463Ser)
c.4334A>G (p.Asn1445Ser)
c.4226A>G (p.Asn1409Ser)
c.4259A>G (p.Asn1420Ser)
c.4331A>G (p.Asn1444Ser)
3g.38556490T>GCA352145313SCN5Ac.4385A>C (p.Asn1462Thr)
c.4388A>C (p.Asn1463Thr)
c.4334A>C (p.Asn1445Thr)
c.4226A>C (p.Asn1409Thr)
c.4259A>C (p.Asn1420Thr)
c.4331A>C (p.Asn1444Thr)
3g.38556491T>ACA018194SCN5Ac.4384A>T (p.Asn1462Tyr)
c.4387A>T (p.Asn1463Tyr)
c.4333A>T (p.Asn1445Tyr)
c.4225A>T (p.Asn1409Tyr)
c.4258A>T (p.Asn1420Tyr)
c.4330A>T (p.Asn1444Tyr)
 ClinVar dbSNP gnomAD v4
3g.38556491T>CCA352145316SCN5Ac.4384A>G (p.Asn1462Asp)
c.4387A>G (p.Asn1463Asp)
c.4333A>G (p.Asn1445Asp)
c.4225A>G (p.Asn1409Asp)
c.4258A>G (p.Asn1420Asp)
c.4330A>G (p.Asn1444Asp)
3g.38556491T>GCA352145315SCN5Ac.4384A>C (p.Asn1462His)
c.4387A>C (p.Asn1463His)
c.4333A>C (p.Asn1445His)
c.4225A>C (p.Asn1409His)
c.4258A>C (p.Asn1420His)
c.4330A>C (p.Asn1444His)
3g.38556491T=CA1358563461SCN5Ac.4384A= (p.Asn1462=)
c.4387A= (p.Asn1463=)
c.4333A= (p.Asn1445=)
c.4225A= (p.Asn1409=)
c.4258A= (p.Asn1420=)
c.4330A= (p.Asn1444=)
3g.38556492C>ACA433136057SCN5Ac.4383G>T (p.Leu1461=)
c.4386G>T (p.Leu1462=)
c.4332G>T (p.Leu1444=)
c.4224G>T (p.Leu1408=)
c.4257G>T (p.Leu1419=)
c.4329G>T (p.Leu1443=)
3g.38556492C>GCA433136059SCN5Ac.4383G>C (p.Leu1461=)
c.4386G>C (p.Leu1462=)
c.4332G>C (p.Leu1444=)
c.4224G>C (p.Leu1408=)
c.4257G>C (p.Leu1419=)
c.4329G>C (p.Leu1443=)
3g.38556492C>TCA433136058SCN5Ac.4383G>A (p.Leu1461=)
c.4386G>A (p.Leu1462=)
c.4332G>A (p.Leu1444=)
c.4224G>A (p.Leu1408=)
c.4257G>A (p.Leu1419=)
c.4329G>A (p.Leu1443=)
3g.38556493A>CCA352145317SCN5Ac.4382T>G (p.Leu1461Arg)
c.4385T>G (p.Leu1462Arg)
c.4331T>G (p.Leu1444Arg)
c.4223T>G (p.Leu1408Arg)
c.4256T>G (p.Leu1419Arg)
c.4328T>G (p.Leu1443Arg)
3g.38556493A>GCA352145319SCN5Ac.4382T>C (p.Leu1461Pro)
c.4385T>C (p.Leu1462Pro)
c.4331T>C (p.Leu1444Pro)
c.4223T>C (p.Leu1408Pro)
c.4256T>C (p.Leu1419Pro)
c.4328T>C (p.Leu1443Pro)
 ClinVar dbSNP gnomAD v4
3g.38556493A>TCA352145318SCN5Ac.4382T>A (p.Leu1461Gln)
c.4385T>A (p.Leu1462Gln)
c.4331T>A (p.Leu1444Gln)
c.4223T>A (p.Leu1408Gln)
c.4256T>A (p.Leu1419Gln)
c.4328T>A (p.Leu1443Gln)
3g.38556493_38556494delinsAGCA1358563463SCN5Ac.4381_4382delinsCT (p.Leu1461=)
c.4384_4385delinsCT (p.Leu1462=)
c.4330_4331delinsCT (p.Leu1444=)
c.4222_4223delinsCT (p.Leu1408=)
c.4255_4256delinsCT (p.Leu1419=)
c.4327_4328delinsCT (p.Leu1443=)
3g.38556494G>ACA433136060SCN5Ac.4381C>T (p.Leu1461=)
c.4384C>T (p.Leu1462=)
c.4330C>T (p.Leu1444=)
c.4222C>T (p.Leu1408=)
c.4255C>T (p.Leu1419=)
c.4327C>T (p.Leu1443=)
 dbSNP gnomAD v3 gnomAD v4
3g.38556494G>CCA352145320SCN5Ac.4381C>G (p.Leu1461Val)
c.4384C>G (p.Leu1462Val)
c.4330C>G (p.Leu1444Val)
c.4222C>G (p.Leu1408Val)
c.4255C>G (p.Leu1419Val)
c.4327C>G (p.Leu1443Val)
3g.38556494G=CA1358563465SCN5Ac.4381C= (p.Leu1461=)
c.4384C= (p.Leu1462=)
c.4330C= (p.Leu1444=)
c.4222C= (p.Leu1408=)
c.4255C= (p.Leu1419=)
c.4327C= (p.Leu1443=)
3g.38556494G>TCA352145321SCN5Ac.4381C>A (p.Leu1461Met)
c.4384C>A (p.Leu1462Met)
c.4330C>A (p.Leu1444Met)
c.4222C>A (p.Leu1408Met)
c.4255C>A (p.Leu1419Met)
c.4327C>A (p.Leu1443Met)
 gnomAD v4
3g.38556496delCA658796277SCN5Ac.4381del (p.Leu1461Ter)
c.4384del (p.Leu1462Ter)
c.4330del (p.Leu1444Ter)
c.4222del (p.Leu1408Ter)
c.4255del (p.Leu1419Ter)
c.4327del (p.Leu1443Ter)
 ClinVar dbSNP
3g.38556495G>ACA433136061SCN5Ac.4380C>T (p.Thr1460=)
c.4383C>T (p.Thr1461=)
c.4329C>T (p.Thr1443=)
c.4221C>T (p.Thr1407=)
c.4254C>T (p.Thr1418=)
c.4326C>T (p.Thr1442=)
 ClinVar gnomAD v4
3g.38556495G>CCA433136062SCN5Ac.4380C>G (p.Thr1460=)
c.4383C>G (p.Thr1461=)
c.4329C>G (p.Thr1443=)
c.4221C>G (p.Thr1407=)
c.4254C>G (p.Thr1418=)
c.4326C>G (p.Thr1442=)
3g.38556495G>TCA433136063SCN5Ac.4380C>A (p.Thr1460=)
c.4383C>A (p.Thr1461=)
c.4329C>A (p.Thr1443=)
c.4221C>A (p.Thr1407=)
c.4254C>A (p.Thr1418=)
c.4326C>A (p.Thr1442=)
3g.38556496G>ACA352145322SCN5Ac.4379C>T (p.Thr1460Ile)
c.4382C>T (p.Thr1461Ile)
c.4328C>T (p.Thr1443Ile)
c.4220C>T (p.Thr1407Ile)
c.4253C>T (p.Thr1418Ile)
c.4325C>T (p.Thr1442Ile)
 gnomAD v4
3g.38556496G>CCA352145324SCN5Ac.4379C>G (p.Thr1460Ser)
c.4382C>G (p.Thr1461Ser)
c.4328C>G (p.Thr1443Ser)
c.4220C>G (p.Thr1407Ser)
c.4253C>G (p.Thr1418Ser)
c.4325C>G (p.Thr1442Ser)
3g.38556496G>TCA352145323SCN5Ac.4379C>A (p.Thr1460Asn)
c.4382C>A (p.Thr1461Asn)
c.4328C>A (p.Thr1443Asn)
c.4220C>A (p.Thr1407Asn)
c.4253C>A (p.Thr1418Asn)
c.4325C>A (p.Thr1442Asn)
3g.38556497T>ACA352145325SCN5Ac.4378A>T (p.Thr1460Ser)
c.4381A>T (p.Thr1461Ser)
c.4327A>T (p.Thr1443Ser)
c.4219A>T (p.Thr1407Ser)
c.4252A>T (p.Thr1418Ser)
c.4324A>T (p.Thr1442Ser)
3g.38556497T>CCA352145326SCN5Ac.4378A>G (p.Thr1460Ala)
c.4381A>G (p.Thr1461Ala)
c.4327A>G (p.Thr1443Ala)
c.4219A>G (p.Thr1407Ala)
c.4252A>G (p.Thr1418Ala)
c.4324A>G (p.Thr1442Ala)
3g.38556497T>GCA352145327SCN5Ac.4378A>C (p.Thr1460Pro)
c.4381A>C (p.Thr1461Pro)
c.4327A>C (p.Thr1443Pro)
c.4219A>C (p.Thr1407Pro)
c.4252A>C (p.Thr1418Pro)
c.4324A>C (p.Thr1442Pro)
3g.38556498G>ACA433136070SCN5Ac.4377C>T (p.Phe1459=)
c.4380C>T (p.Phe1460=)
c.4326C>T (p.Phe1442=)
c.4218C>T (p.Phe1406=)
c.4251C>T (p.Phe1417=)
c.4323C>T (p.Phe1441=)
3g.38556498G>CCA352145328SCN5Ac.4377C>G (p.Phe1459Leu)
c.4380C>G (p.Phe1460Leu)
c.4326C>G (p.Phe1442Leu)
c.4218C>G (p.Phe1406Leu)
c.4251C>G (p.Phe1417Leu)
c.4323C>G (p.Phe1441Leu)
3g.38556498G>TCA352145329SCN5Ac.4377C>A (p.Phe1459Leu)
c.4380C>A (p.Phe1460Leu)
c.4326C>A (p.Phe1442Leu)
c.4218C>A (p.Phe1406Leu)
c.4251C>A (p.Phe1417Leu)
c.4323C>A (p.Phe1441Leu)
 COSMIC COSMIC COSMIC
3g.38556499A>CCA352145330SCN5Ac.4376T>G (p.Phe1459Cys)
c.4379T>G (p.Phe1460Cys)
c.4325T>G (p.Phe1442Cys)
c.4217T>G (p.Phe1406Cys)
c.4250T>G (p.Phe1417Cys)
c.4322T>G (p.Phe1441Cys)
3g.38556499A>GCA352145331SCN5Ac.4376T>C (p.Phe1459Ser)
c.4379T>C (p.Phe1460Ser)
c.4325T>C (p.Phe1442Ser)
c.4217T>C (p.Phe1406Ser)
c.4250T>C (p.Phe1417Ser)
c.4322T>C (p.Phe1441Ser)
3g.38556499A>TCA352145332SCN5Ac.4376T>A (p.Phe1459Tyr)
c.4379T>A (p.Phe1460Tyr)
c.4325T>A (p.Phe1442Tyr)
c.4217T>A (p.Phe1406Tyr)
c.4250T>A (p.Phe1417Tyr)
c.4322T>A (p.Phe1441Tyr)
3g.38556503_38556506delCA2586965726SCN5Ac.4373_4376del (p.Phe1458SerfsTer3)
c.4376_4379del (p.Phe1459SerfsTer3)
c.4322_4325del (p.Phe1441SerfsTer3)
c.4214_4217del (p.Phe1405SerfsTer3)
c.4247_4250del (p.Phe1416SerfsTer3)
c.4319_4322del (p.Phe1440SerfsTer3)
3g.38556500A>CCA352145333SCN5Ac.4375T>G (p.Phe1459Val)
c.4378T>G (p.Phe1460Val)
c.4324T>G (p.Phe1442Val)
c.4216T>G (p.Phe1406Val)
c.4249T>G (p.Phe1417Val)
c.4321T>G (p.Phe1441Val)
 COSMIC COSMIC COSMIC
3g.38556500A>GCA352145334SCN5Ac.4375T>C (p.Phe1459Leu)
c.4378T>C (p.Phe1460Leu)
c.4324T>C (p.Phe1442Leu)
c.4216T>C (p.Phe1406Leu)
c.4249T>C (p.Phe1417Leu)
c.4321T>C (p.Phe1441Leu)
3g.38556500A>TCA352145335SCN5Ac.4375T>A (p.Phe1459Ile)
c.4378T>A (p.Phe1460Ile)
c.4324T>A (p.Phe1442Ile)
c.4216T>A (p.Phe1406Ile)
c.4249T>A (p.Phe1417Ile)
c.4321T>A (p.Phe1441Ile)
3g.38556501G>ACA433136075SCN5Ac.4374C>T (p.Phe1458=)
c.4377C>T (p.Phe1459=)
c.4323C>T (p.Phe1441=)
c.4215C>T (p.Phe1405=)
c.4248C>T (p.Phe1416=)
c.4320C>T (p.Phe1440=)
3g.38556501G>CCA352145336SCN5Ac.4374C>G (p.Phe1458Leu)
c.4377C>G (p.Phe1459Leu)
c.4323C>G (p.Phe1441Leu)
c.4215C>G (p.Phe1405Leu)
c.4248C>G (p.Phe1416Leu)
c.4320C>G (p.Phe1440Leu)
3g.38556501G>TCA352145337SCN5Ac.4374C>A (p.Phe1458Leu)
c.4377C>A (p.Phe1459Leu)
c.4323C>A (p.Phe1441Leu)
c.4215C>A (p.Phe1405Leu)
c.4248C>A (p.Phe1416Leu)
c.4320C>A (p.Phe1440Leu)
3g.38556502A>CCA352145338SCN5Ac.4373T>G (p.Phe1458Cys)
c.4376T>G (p.Phe1459Cys)
c.4322T>G (p.Phe1441Cys)
c.4214T>G (p.Phe1405Cys)
c.4247T>G (p.Phe1416Cys)
c.4319T>G (p.Phe1440Cys)
3g.38556502A>GCA352145340SCN5Ac.4373T>C (p.Phe1458Ser)
c.4376T>C (p.Phe1459Ser)
c.4322T>C (p.Phe1441Ser)
c.4214T>C (p.Phe1405Ser)
c.4247T>C (p.Phe1416Ser)
c.4319T>C (p.Phe1440Ser)
3g.38556502A>TCA352145339SCN5Ac.4373T>A (p.Phe1458Tyr)
c.4376T>A (p.Phe1459Tyr)
c.4322T>A (p.Phe1441Tyr)
c.4214T>A (p.Phe1405Tyr)
c.4247T>A (p.Phe1416Tyr)
c.4319T>A (p.Phe1440Tyr)
3g.38556504delCA2573136305SCN5Ac.4373del (p.Phe1458SerfsTer4)
c.4376del (p.Phe1459SerfsTer4)
c.4322del (p.Phe1441SerfsTer4)
c.4214del (p.Phe1405SerfsTer4)
c.4247del (p.Phe1416SerfsTer4)
c.4319del (p.Phe1440SerfsTer4)
 ClinVar dbSNP
3g.38556503A>CCA352145341SCN5Ac.4372T>G (p.Phe1458Val)
c.4375T>G (p.Phe1459Val)
c.4321T>G (p.Phe1441Val)
c.4213T>G (p.Phe1405Val)
c.4246T>G (p.Phe1416Val)
c.4318T>G (p.Phe1440Val)
3g.38556503A>GCA352145342SCN5Ac.4372T>C (p.Phe1458Leu)
c.4375T>C (p.Phe1459Leu)
c.4321T>C (p.Phe1441Leu)
c.4213T>C (p.Phe1405Leu)
c.4246T>C (p.Phe1416Leu)
c.4318T>C (p.Phe1440Leu)
3g.38556503A>TCA352145343SCN5Ac.4372T>A (p.Phe1458Ile)
c.4375T>A (p.Phe1459Ile)
c.4321T>A (p.Phe1441Ile)
c.4213T>A (p.Phe1405Ile)
c.4246T>A (p.Phe1416Ile)
c.4318T>A (p.Phe1440Ile)
3g.38556504A>CCA433136077SCN5Ac.4371T>G (p.Ser1457=)
c.4374T>G (p.Ser1458=)
c.4320T>G (p.Ser1440=)
c.4212T>G (p.Ser1404=)
c.4245T>G (p.Ser1415=)
c.4317T>G (p.Ser1439=)
3g.38556504A>GCA433136078SCN5Ac.4371T>C (p.Ser1457=)
c.4374T>C (p.Ser1458=)
c.4320T>C (p.Ser1440=)
c.4212T>C (p.Ser1404=)
c.4245T>C (p.Ser1415=)
c.4317T>C (p.Ser1439=)
3g.38556504A>TCA433136079SCN5Ac.4371T>A (p.Ser1457=)
c.4374T>A (p.Ser1458=)
c.4320T>A (p.Ser1440=)
c.4212T>A (p.Ser1404=)
c.4245T>A (p.Ser1415=)
c.4317T>A (p.Ser1439=)
3g.38556505G>ACA352145344SCN5Ac.4370C>T (p.Ser1457Phe)
c.4373C>T (p.Ser1458Phe)
c.4319C>T (p.Ser1440Phe)
c.4211C>T (p.Ser1404Phe)
c.4244C>T (p.Ser1415Phe)
c.4316C>T (p.Ser1439Phe)
3g.38556505G>CCA352145345SCN5Ac.4370C>G (p.Ser1457Cys)
c.4373C>G (p.Ser1458Cys)
c.4319C>G (p.Ser1440Cys)
c.4211C>G (p.Ser1404Cys)
c.4244C>G (p.Ser1415Cys)
c.4316C>G (p.Ser1439Cys)
3g.38556505G=CA1358563466SCN5Ac.4370C= (p.Ser1457=)
c.4373C= (p.Ser1458=)
c.4319C= (p.Ser1440=)
c.4211C= (p.Ser1404=)
c.4244C= (p.Ser1415=)
c.4316C= (p.Ser1439=)
3g.38556505G>TCA018188SCN5Ac.4370C>A (p.Ser1457Tyr)
c.4373C>A (p.Ser1458Tyr)
c.4319C>A (p.Ser1440Tyr)
c.4211C>A (p.Ser1404Tyr)
c.4244C>A (p.Ser1415Tyr)
c.4316C>A (p.Ser1439Tyr)
 ClinVar dbSNP
3g.38556506A=CA1358563468SCN5Ac.4369T= (p.Ser1457=)
c.4372T= (p.Ser1458=)
c.4318T= (p.Ser1440=)
c.4210T= (p.Ser1404=)
c.4243T= (p.Ser1415=)
c.4315T= (p.Ser1439=)
3g.38556506A>CCA352145346SCN5Ac.4369T>G (p.Ser1457Ala)
c.4372T>G (p.Ser1458Ala)
c.4318T>G (p.Ser1440Ala)
c.4210T>G (p.Ser1404Ala)
c.4243T>G (p.Ser1415Ala)
c.4315T>G (p.Ser1439Ala)
3g.38556506A>GCA352145347SCN5Ac.4369T>C (p.Ser1457Pro)
c.4372T>C (p.Ser1458Pro)
c.4318T>C (p.Ser1440Pro)
c.4210T>C (p.Ser1404Pro)
c.4243T>C (p.Ser1415Pro)
c.4315T>C (p.Ser1439Pro)
 dbSNP gnomAD v3 gnomAD v4
3g.38556506A>TCA352145348SCN5Ac.4369T>A (p.Ser1457Thr)
c.4372T>A (p.Ser1458Thr)
c.4318T>A (p.Ser1440Thr)
c.4210T>A (p.Ser1404Thr)
c.4243T>A (p.Ser1415Thr)
c.4315T>A (p.Ser1439Thr)
3g.38556507C>ACA433136082SCN5Ac.4368G>T (p.Gly1456=)
c.4371G>T (p.Gly1457=)
c.4317G>T (p.Gly1439=)
c.4209G>T (p.Gly1403=)
c.4242G>T (p.Gly1414=)
c.4314G>T (p.Gly1438=)
3g.38556507C=CA1358563469SCN5Ac.4368G= (p.Gly1456=)
c.4371G= (p.Gly1457=)
c.4317G= (p.Gly1439=)
c.4209G= (p.Gly1403=)
c.4242G= (p.Gly1414=)
c.4314G= (p.Gly1438=)
3g.38556507C>GCA433136084SCN5Ac.4368G>C (p.Gly1456=)
c.4371G>C (p.Gly1457=)
c.4317G>C (p.Gly1439=)
c.4209G>C (p.Gly1403=)
c.4242G>C (p.Gly1414=)
c.4314G>C (p.Gly1438=)
3g.38556507C>TCA433136083SCN5Ac.4368G>A (p.Gly1456=)
c.4371G>A (p.Gly1457=)
c.4317G>A (p.Gly1439=)
c.4209G>A (p.Gly1403=)
c.4242G>A (p.Gly1414=)
c.4314G>A (p.Gly1438=)
 ClinVar dbSNP
3g.38556508C>ACA352145351SCN5Ac.4367G>T (p.Gly1456Val)
c.4370G>T (p.Gly1457Val)
c.4316G>T (p.Gly1439Val)
c.4208G>T (p.Gly1403Val)
c.4241G>T (p.Gly1414Val)
c.4313G>T (p.Gly1438Val)
3g.38556508C>GCA352145350SCN5Ac.4367G>C (p.Gly1456Ala)
c.4370G>C (p.Gly1457Ala)
c.4316G>C (p.Gly1439Ala)
c.4208G>C (p.Gly1403Ala)
c.4241G>C (p.Gly1414Ala)
c.4313G>C (p.Gly1438Ala)
3g.38556508C>TCA352145349SCN5Ac.4367G>A (p.Gly1456Glu)
c.4370G>A (p.Gly1457Glu)
c.4316G>A (p.Gly1439Glu)
c.4208G>A (p.Gly1403Glu)
c.4241G>A (p.Gly1414Glu)
c.4313G>A (p.Gly1438Glu)
3g.38556509C>ACA352145352SCN5Ac.4366G>T (p.Gly1456Trp)
c.4369G>T (p.Gly1457Trp)
c.4315G>T (p.Gly1439Trp)
c.4207G>T (p.Gly1403Trp)
c.4240G>T (p.Gly1414Trp)
c.4312G>T (p.Gly1438Trp)
3g.38556509C>GCA352145353SCN5Ac.4366G>C (p.Gly1456Arg)
c.4369G>C (p.Gly1457Arg)
c.4315G>C (p.Gly1439Arg)
c.4207G>C (p.Gly1403Arg)
c.4240G>C (p.Gly1414Arg)
c.4312G>C (p.Gly1438Arg)
 ClinVar
3g.38556509C>TCA352145354SCN5Ac.4366G>A (p.Gly1456Arg)
c.4369G>A (p.Gly1457Arg)
c.4315G>A (p.Gly1439Arg)
c.4207G>A (p.Gly1403Arg)
c.4240G>A (p.Gly1414Arg)
c.4312G>A (p.Gly1438Arg)
3g.38556510A=CA1358563471SCN5Ac.4365T= (p.Phe1455=)
c.4368T= (p.Phe1456=)
c.4314T= (p.Phe1438=)
c.4206T= (p.Phe1402=)
c.4239T= (p.Phe1413=)
c.4311T= (p.Phe1437=)
3g.38556510A>CCA352145355SCN5Ac.4365T>G (p.Phe1455Leu)
c.4368T>G (p.Phe1456Leu)
c.4314T>G (p.Phe1438Leu)
c.4206T>G (p.Phe1402Leu)
c.4239T>G (p.Phe1413Leu)
c.4311T>G (p.Phe1437Leu)
3g.38556510A>GCA433136089SCN5Ac.4365T>C (p.Phe1455=)
c.4368T>C (p.Phe1456=)
c.4314T>C (p.Phe1438=)
c.4206T>C (p.Phe1402=)
c.4239T>C (p.Phe1413=)
c.4311T>C (p.Phe1437=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38556510A>TCA352145356SCN5Ac.4365T>A (p.Phe1455Leu)
c.4368T>A (p.Phe1456Leu)
c.4314T>A (p.Phe1438Leu)
c.4206T>A (p.Phe1402Leu)
c.4239T>A (p.Phe1413Leu)
c.4311T>A (p.Phe1437Leu)
3g.38556511A>CCA352145357SCN5Ac.4364T>G (p.Phe1455Cys)
c.4367T>G (p.Phe1456Cys)
c.4313T>G (p.Phe1438Cys)
c.4205T>G (p.Phe1402Cys)
c.4238T>G (p.Phe1413Cys)
c.4310T>G (p.Phe1437Cys)
3g.38556511A>GCA352145358SCN5Ac.4364T>C (p.Phe1455Ser)
c.4367T>C (p.Phe1456Ser)
c.4313T>C (p.Phe1438Ser)
c.4205T>C (p.Phe1402Ser)
c.4238T>C (p.Phe1413Ser)
c.4310T>C (p.Phe1437Ser)
3g.38556511A>TCA352145359SCN5Ac.4364T>A (p.Phe1455Tyr)
c.4367T>A (p.Phe1456Tyr)
c.4313T>A (p.Phe1438Tyr)
c.4205T>A (p.Phe1402Tyr)
c.4238T>A (p.Phe1413Tyr)
c.4310T>A (p.Phe1437Tyr)
3g.38556511_38556512insCACACCCAACACCA2755901508SCN5Ac.4363_4364insGTGTTGGGTGTG (p.Phe1455delinsCysValGlyCysVal)
c.4366_4367insGTGTTGGGTGTG (p.Phe1456delinsCysValGlyCysVal)
c.4312_4313insGTGTTGGGTGTG (p.Phe1438delinsCysValGlyCysVal)
c.4204_4205insGTGTTGGGTGTG (p.Phe1402delinsCysValGlyCysVal)
c.4237_4238insGTGTTGGGTGTG (p.Phe1413delinsCysValGlyCysVal)
c.4309_4310insGTGTTGGGTGTG (p.Phe1437delinsCysValGlyCysVal)
3g.38556512A>CCA352145360SCN5Ac.4363T>G (p.Phe1455Val)
c.4366T>G (p.Phe1456Val)
c.4312T>G (p.Phe1438Val)
c.4204T>G (p.Phe1402Val)
c.4237T>G (p.Phe1413Val)
c.4309T>G (p.Phe1437Val)
3g.38556512A>GCA352145361SCN5Ac.4363T>C (p.Phe1455Leu)
c.4366T>C (p.Phe1456Leu)
c.4312T>C (p.Phe1438Leu)
c.4204T>C (p.Phe1402Leu)
c.4237T>C (p.Phe1413Leu)
c.4309T>C (p.Phe1437Leu)
 ClinVar gnomAD v4
3g.38556512A>TCA352145362SCN5Ac.4363T>A (p.Phe1455Ile)
c.4366T>A (p.Phe1456Ile)
c.4312T>A (p.Phe1438Ile)
c.4204T>A (p.Phe1402Ile)
c.4237T>A (p.Phe1413Ile)
c.4309T>A (p.Phe1437Ile)
3g.38556513G>ACA433136093SCN5Ac.4362C>T (p.Ile1454=)
c.4365C>T (p.Ile1455=)
c.4311C>T (p.Ile1437=)
c.4203C>T (p.Ile1401=)
c.4236C>T (p.Ile1412=)
c.4308C>T (p.Ile1436=)
3g.38556513G>CCA352145363SCN5Ac.4362C>G (p.Ile1454Met)
c.4365C>G (p.Ile1455Met)
c.4311C>G (p.Ile1437Met)
c.4203C>G (p.Ile1401Met)
c.4236C>G (p.Ile1412Met)
c.4308C>G (p.Ile1436Met)
3g.38556513G=CA1358563472SCN5Ac.4362C= (p.Ile1454=)
c.4365C= (p.Ile1455=)
c.4311C= (p.Ile1437=)
c.4203C= (p.Ile1401=)
c.4236C= (p.Ile1412=)
c.4308C= (p.Ile1436=)
3g.38556513G>TCA72943334SCN5Ac.4362C>A (p.Ile1454=)
c.4365C>A (p.Ile1455=)
c.4311C>A (p.Ile1437=)
c.4203C>A (p.Ile1401=)
c.4236C>A (p.Ile1412=)
c.4308C>A (p.Ile1436=)
 ClinVar dbSNP
3g.38556514A>CCA352145364SCN5Ac.4361T>G (p.Ile1454Ser)
c.4364T>G (p.Ile1455Ser)
c.4310T>G (p.Ile1437Ser)
c.4202T>G (p.Ile1401Ser)
c.4235T>G (p.Ile1412Ser)
c.4307T>G (p.Ile1436Ser)
3g.38556514A>GCA352145366SCN5Ac.4361T>C (p.Ile1454Thr)
c.4364T>C (p.Ile1455Thr)
c.4310T>C (p.Ile1437Thr)
c.4202T>C (p.Ile1401Thr)
c.4235T>C (p.Ile1412Thr)
c.4307T>C (p.Ile1436Thr)
 ClinVar gnomAD v4
3g.38556514A>TCA352145365SCN5Ac.4361T>A (p.Ile1454Asn)
c.4364T>A (p.Ile1455Asn)
c.4310T>A (p.Ile1437Asn)
c.4202T>A (p.Ile1401Asn)
c.4235T>A (p.Ile1412Asn)
c.4307T>A (p.Ile1436Asn)
3g.38556515T>ACA352145367SCN5Ac.4360A>T (p.Ile1454Phe)
c.4363A>T (p.Ile1455Phe)
c.4309A>T (p.Ile1437Phe)
c.4201A>T (p.Ile1401Phe)
c.4234A>T (p.Ile1412Phe)
c.4306A>T (p.Ile1436Phe)
3g.38556515T>CCA352145368SCN5Ac.4360A>G (p.Ile1454Val)
c.4363A>G (p.Ile1455Val)
c.4309A>G (p.Ile1437Val)
c.4201A>G (p.Ile1401Val)
c.4234A>G (p.Ile1412Val)
c.4306A>G (p.Ile1436Val)
3g.38556515T>GCA352145369SCN5Ac.4360A>C (p.Ile1454Leu)
c.4363A>C (p.Ile1455Leu)
c.4309A>C (p.Ile1437Leu)
c.4201A>C (p.Ile1401Leu)
c.4234A>C (p.Ile1412Leu)
c.4306A>C (p.Ile1436Leu)
3g.38556516G>ACA433136097SCN5Ac.4359C>T (p.Ile1453=)
c.4362C>T (p.Ile1454=)
c.4308C>T (p.Ile1436=)
c.4200C>T (p.Ile1400=)
c.4233C>T (p.Ile1411=)
c.4305C>T (p.Ile1435=)
3g.38556516G>CCA352145370SCN5Ac.4359C>G (p.Ile1453Met)
c.4362C>G (p.Ile1454Met)
c.4308C>G (p.Ile1436Met)
c.4200C>G (p.Ile1400Met)
c.4233C>G (p.Ile1411Met)
c.4305C>G (p.Ile1435Met)
3g.38556516G>TCA433136098SCN5Ac.4359C>A (p.Ile1453=)
c.4362C>A (p.Ile1454=)
c.4308C>A (p.Ile1436=)
c.4200C>A (p.Ile1400=)
c.4233C>A (p.Ile1411=)
c.4305C>A (p.Ile1435=)
 ClinVar dbSNP gnomAD v4
3g.38556517A>CCA352145371SCN5Ac.4358T>G (p.Ile1453Ser)
c.4361T>G (p.Ile1454Ser)
c.4307T>G (p.Ile1436Ser)
c.4199T>G (p.Ile1400Ser)
c.4232T>G (p.Ile1411Ser)
c.4304T>G (p.Ile1435Ser)
3g.38556517A>GCA352145372SCN5Ac.4358T>C (p.Ile1453Thr)
c.4361T>C (p.Ile1454Thr)
c.4307T>C (p.Ile1436Thr)
c.4199T>C (p.Ile1400Thr)
c.4232T>C (p.Ile1411Thr)
c.4304T>C (p.Ile1435Thr)
3g.38556517A>TCA352145373SCN5Ac.4358T>A (p.Ile1453Asn)
c.4361T>A (p.Ile1454Asn)
c.4307T>A (p.Ile1436Asn)
c.4199T>A (p.Ile1400Asn)
c.4232T>A (p.Ile1411Asn)
c.4304T>A (p.Ile1435Asn)
3g.38556518T>ACA352145374SCN5Ac.4357A>T (p.Ile1453Phe)
c.4360A>T (p.Ile1454Phe)
c.4306A>T (p.Ile1436Phe)
c.4198A>T (p.Ile1400Phe)
c.4231A>T (p.Ile1411Phe)
c.4303A>T (p.Ile1435Phe)
3g.38556518T>CCA352145375SCN5Ac.4357A>G (p.Ile1453Val)
c.4360A>G (p.Ile1454Val)
c.4306A>G (p.Ile1436Val)
c.4198A>G (p.Ile1400Val)
c.4231A>G (p.Ile1411Val)
c.4303A>G (p.Ile1435Val)
 ClinVar
3g.38556518T>GCA352145376SCN5Ac.4357A>C (p.Ile1453Leu)
c.4360A>C (p.Ile1454Leu)
c.4306A>C (p.Ile1436Leu)
c.4198A>C (p.Ile1400Leu)
c.4231A>C (p.Ile1411Leu)
c.4303A>C (p.Ile1435Leu)
3g.38556519G>ACA72943339SCN5Ac.4356C>T (p.Phe1452=)
c.4359C>T (p.Phe1453=)
c.4305C>T (p.Phe1435=)
c.4197C>T (p.Phe1399=)
c.4230C>T (p.Phe1410=)
c.4302C>T (p.Phe1434=)
 dbSNP gnomAD v3 gnomAD v4
3g.38556519G>CCA352145378SCN5Ac.4356C>G (p.Phe1452Leu)
c.4359C>G (p.Phe1453Leu)
c.4305C>G (p.Phe1435Leu)
c.4197C>G (p.Phe1399Leu)
c.4230C>G (p.Phe1410Leu)
c.4302C>G (p.Phe1434Leu)
3g.38556519G=CA1358563474SCN5Ac.4356C= (p.Phe1452=)
c.4359C= (p.Phe1453=)
c.4305C= (p.Phe1435=)
c.4197C= (p.Phe1399=)
c.4230C= (p.Phe1410=)
c.4302C= (p.Phe1434=)
3g.38556519G>TCA352145377SCN5Ac.4356C>A (p.Phe1452Leu)
c.4359C>A (p.Phe1453Leu)
c.4305C>A (p.Phe1435Leu)
c.4197C>A (p.Phe1399Leu)
c.4230C>A (p.Phe1410Leu)
c.4302C>A (p.Phe1434Leu)
3g.38556520A>CCA352145379SCN5Ac.4355T>G (p.Phe1452Cys)
c.4358T>G (p.Phe1453Cys)
c.4304T>G (p.Phe1435Cys)
c.4196T>G (p.Phe1399Cys)
c.4229T>G (p.Phe1410Cys)
c.4301T>G (p.Phe1434Cys)
3g.38556520A>GCA352145380SCN5Ac.4355T>C (p.Phe1452Ser)
c.4358T>C (p.Phe1453Ser)
c.4304T>C (p.Phe1435Ser)
c.4196T>C (p.Phe1399Ser)
c.4229T>C (p.Phe1410Ser)
c.4301T>C (p.Phe1434Ser)
 gnomAD v4
3g.38556520A>TCA352145381SCN5Ac.4355T>A (p.Phe1452Tyr)
c.4358T>A (p.Phe1453Tyr)
c.4304T>A (p.Phe1435Tyr)
c.4196T>A (p.Phe1399Tyr)
c.4229T>A (p.Phe1410Tyr)
c.4301T>A (p.Phe1434Tyr)
3g.38556521A>CCA352145382SCN5Ac.4354T>G (p.Phe1452Val)
c.4357T>G (p.Phe1453Val)
c.4303T>G (p.Phe1435Val)
c.4195T>G (p.Phe1399Val)
c.4228T>G (p.Phe1410Val)
c.4300T>G (p.Phe1434Val)
3g.38556521A>GCA352145383SCN5Ac.4354T>C (p.Phe1452Leu)
c.4357T>C (p.Phe1453Leu)
c.4303T>C (p.Phe1435Leu)
c.4195T>C (p.Phe1399Leu)
c.4228T>C (p.Phe1410Leu)
c.4300T>C (p.Phe1434Leu)
3g.38556521A>TCA352145385SCN5Ac.4354T>A (p.Phe1452Ile)
c.4357T>A (p.Phe1453Ile)
c.4303T>A (p.Phe1435Ile)
c.4195T>A (p.Phe1399Ile)
c.4228T>A (p.Phe1410Ile)
c.4300T>A (p.Phe1434Ile)
3g.38556522A>CCA352145388SCN5Ac.4353T>G (p.Ile1451Met)
c.4356T>G (p.Ile1452Met)
c.4302T>G (p.Ile1434Met)
c.4194T>G (p.Ile1398Met)
c.4227T>G (p.Ile1409Met)
c.4299T>G (p.Ile1433Met)
3g.38556522A>GCA433136105SCN5Ac.4353T>C (p.Ile1451=)
c.4356T>C (p.Ile1452=)
c.4302T>C (p.Ile1434=)
c.4194T>C (p.Ile1398=)
c.4227T>C (p.Ile1409=)
c.4299T>C (p.Ile1433=)
3g.38556522A>TCA433136106SCN5Ac.4353T>A (p.Ile1451=)
c.4356T>A (p.Ile1452=)
c.4302T>A (p.Ile1434=)
c.4194T>A (p.Ile1398=)
c.4227T>A (p.Ile1409=)
c.4299T>A (p.Ile1433=)
3g.38556523A>CCA352145389SCN5Ac.4352T>G (p.Ile1451Ser)
c.4355T>G (p.Ile1452Ser)
c.4301T>G (p.Ile1434Ser)
c.4193T>G (p.Ile1398Ser)
c.4226T>G (p.Ile1409Ser)
c.4298T>G (p.Ile1433Ser)
3g.38556523A>GCA352145390SCN5Ac.4352T>C (p.Ile1451Thr)
c.4355T>C (p.Ile1452Thr)
c.4301T>C (p.Ile1434Thr)
c.4193T>C (p.Ile1398Thr)
c.4226T>C (p.Ile1409Thr)
c.4298T>C (p.Ile1433Thr)
 ClinVar
3g.38556523A>TCA352145391SCN5Ac.4352T>A (p.Ile1451Asn)
c.4355T>A (p.Ile1452Asn)
c.4301T>A (p.Ile1434Asn)
c.4193T>A (p.Ile1398Asn)
c.4226T>A (p.Ile1409Asn)
c.4298T>A (p.Ile1433Asn)
3g.38556524T>ACA352145394SCN5Ac.4351A>T (p.Ile1451Phe)
c.4354A>T (p.Ile1452Phe)
c.4300A>T (p.Ile1434Phe)
c.4192A>T (p.Ile1398Phe)
c.4225A>T (p.Ile1409Phe)
c.4297A>T (p.Ile1433Phe)
3g.38556524T>CCA352145396SCN5Ac.4351A>G (p.Ile1451Val)
c.4354A>G (p.Ile1452Val)
c.4300A>G (p.Ile1434Val)
c.4192A>G (p.Ile1398Val)
c.4225A>G (p.Ile1409Val)
c.4297A>G (p.Ile1433Val)
3g.38556524T>GCA352145398SCN5Ac.4351A>C (p.Ile1451Leu)
c.4354A>C (p.Ile1452Leu)
c.4300A>C (p.Ile1434Leu)
c.4192A>C (p.Ile1398Leu)
c.4225A>C (p.Ile1409Leu)
c.4297A>C (p.Ile1433Leu)
3g.38556525G>ACA433136115SCN5Ac.4350C>T (p.Val1450=)
c.4353C>T (p.Val1451=)
c.4299C>T (p.Val1433=)
c.4191C>T (p.Val1397=)
c.4224C>T (p.Val1408=)
c.4296C>T (p.Val1432=)
3g.38556525G>CCA433136114SCN5Ac.4350C>G (p.Val1450=)
c.4353C>G (p.Val1451=)
c.4299C>G (p.Val1433=)
c.4191C>G (p.Val1397=)
c.4224C>G (p.Val1408=)
c.4296C>G (p.Val1432=)
 ClinVar dbSNP
3g.38556525G>TCA433136113SCN5Ac.4350C>A (p.Val1450=)
c.4353C>A (p.Val1451=)
c.4299C>A (p.Val1433=)
c.4191C>A (p.Val1397=)
c.4224C>A (p.Val1408=)
c.4296C>A (p.Val1432=)
 COSMIC COSMIC COSMIC
3g.38556526A=CA1358563476SCN5Ac.4349T= (p.Val1450=)
c.4352T= (p.Val1451=)
c.4298T= (p.Val1433=)
c.4190T= (p.Val1397=)
c.4223T= (p.Val1408=)
c.4295T= (p.Val1432=)
3g.38556526A>CCA352145405SCN5Ac.4349T>G (p.Val1450Gly)
c.4352T>G (p.Val1451Gly)
c.4298T>G (p.Val1433Gly)
c.4190T>G (p.Val1397Gly)
c.4223T>G (p.Val1408Gly)
c.4295T>G (p.Val1432Gly)
3g.38556526A>GCA352145403SCN5Ac.4349T>C (p.Val1450Ala)
c.4352T>C (p.Val1451Ala)
c.4298T>C (p.Val1433Ala)
c.4190T>C (p.Val1397Ala)
c.4223T>C (p.Val1408Ala)
c.4295T>C (p.Val1432Ala)
3g.38556526A>TCA018169SCN5Ac.4349T>A (p.Val1450Asp)
c.4352T>A (p.Val1451Asp)
c.4298T>A (p.Val1433Asp)
c.4190T>A (p.Val1397Asp)
c.4223T>A (p.Val1408Asp)
c.4295T>A (p.Val1432Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38556527C>ACA352145408SCN5Ac.4348G>T (p.Val1450Phe)
c.4351G>T (p.Val1451Phe)
c.4297G>T (p.Val1433Phe)
c.4189G>T (p.Val1397Phe)
c.4222G>T (p.Val1408Phe)
c.4294G>T (p.Val1432Phe)
3g.38556527C=CA1358563479SCN5Ac.4348G= (p.Val1450=)
c.4351G= (p.Val1451=)
c.4297G= (p.Val1433=)
c.4189G= (p.Val1397=)
c.4222G= (p.Val1408=)
c.4294G= (p.Val1432=)
3g.38556527C>GCA10576614SCN5Ac.4348G>C (p.Val1450Leu)
c.4351G>C (p.Val1451Leu)
c.4297G>C (p.Val1433Leu)
c.4189G>C (p.Val1397Leu)
c.4222G>C (p.Val1408Leu)
c.4294G>C (p.Val1432Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38556527C>TCA352145411SCN5Ac.4348G>A (p.Val1450Ile)
c.4351G>A (p.Val1451Ile)
c.4297G>A (p.Val1433Ile)
c.4189G>A (p.Val1397Ile)
c.4222G>A (p.Val1408Ile)
c.4294G>A (p.Val1432Ile)
3g.38556528A>CCA352145413SCN5Ac.4347T>G (p.Phe1449Leu)
c.4350T>G (p.Phe1450Leu)
c.4296T>G (p.Phe1432Leu)
c.4188T>G (p.Phe1396Leu)
c.4221T>G (p.Phe1407Leu)
c.4293T>G (p.Phe1431Leu)
3g.38556528A>GCA433136122SCN5Ac.4347T>C (p.Phe1449=)
c.4350T>C (p.Phe1450=)
c.4296T>C (p.Phe1432=)
c.4188T>C (p.Phe1396=)
c.4221T>C (p.Phe1407=)
c.4293T>C (p.Phe1431=)
 ClinVar dbSNP
3g.38556528A>TCA352145415SCN5Ac.4347T>A (p.Phe1449Leu)
c.4350T>A (p.Phe1450Leu)
c.4296T>A (p.Phe1432Leu)
c.4188T>A (p.Phe1396Leu)
c.4221T>A (p.Phe1407Leu)
c.4293T>A (p.Phe1431Leu)
3g.38556529A>CCA352145417SCN5Ac.4346T>G (p.Phe1449Cys)
c.4349T>G (p.Phe1450Cys)
c.4295T>G (p.Phe1432Cys)
c.4187T>G (p.Phe1396Cys)
c.4220T>G (p.Phe1407Cys)
c.4292T>G (p.Phe1431Cys)
3g.38556529A>GCA352145418SCN5Ac.4346T>C (p.Phe1449Ser)
c.4349T>C (p.Phe1450Ser)
c.4295T>C (p.Phe1432Ser)
c.4187T>C (p.Phe1396Ser)
c.4220T>C (p.Phe1407Ser)
c.4292T>C (p.Phe1431Ser)
3g.38556529A>TCA352145419SCN5Ac.4346T>A (p.Phe1449Tyr)
c.4349T>A (p.Phe1450Tyr)
c.4295T>A (p.Phe1432Tyr)
c.4187T>A (p.Phe1396Tyr)
c.4220T>A (p.Phe1407Tyr)
c.4292T>A (p.Phe1431Tyr)
3g.38556530A>CCA352145420SCN5Ac.4345T>G (p.Phe1449Val)
c.4348T>G (p.Phe1450Val)
c.4294T>G (p.Phe1432Val)
c.4186T>G (p.Phe1396Val)
c.4219T>G (p.Phe1407Val)
c.4291T>G (p.Phe1431Val)
3g.38556530A>GCA352145421SCN5Ac.4345T>C (p.Phe1449Leu)
c.4348T>C (p.Phe1450Leu)
c.4294T>C (p.Phe1432Leu)
c.4186T>C (p.Phe1396Leu)
c.4219T>C (p.Phe1407Leu)
c.4291T>C (p.Phe1431Leu)
3g.38556530A>TCA352145422SCN5Ac.4345T>A (p.Phe1449Ile)
c.4348T>A (p.Phe1450Ile)
c.4294T>A (p.Phe1432Ile)
c.4186T>A (p.Phe1396Ile)
c.4219T>A (p.Phe1407Ile)
c.4291T>A (p.Phe1431Ile)
3g.38556531A>CCA352145423SCN5Ac.4344T>G (p.Tyr1448Ter)
c.4347T>G (p.Tyr1449Ter)
c.4293T>G (p.Tyr1431Ter)
c.4185T>G (p.Tyr1395Ter)
c.4218T>G (p.Tyr1406Ter)
c.4290T>G (p.Tyr1430Ter)
3g.38556531A>GCA433136127SCN5Ac.4344T>C (p.Tyr1448=)
c.4347T>C (p.Tyr1449=)
c.4293T>C (p.Tyr1431=)
c.4185T>C (p.Tyr1395=)
c.4218T>C (p.Tyr1406=)
c.4290T>C (p.Tyr1430=)
 ClinVar
3g.38556531A>TCA352145424SCN5Ac.4344T>A (p.Tyr1448Ter)
c.4347T>A (p.Tyr1449Ter)
c.4293T>A (p.Tyr1431Ter)
c.4185T>A (p.Tyr1395Ter)
c.4218T>A (p.Tyr1406Ter)
c.4290T>A (p.Tyr1430Ter)
3g.38556532T>ACA352145426SCN5Ac.4343A>T (p.Tyr1448Phe)
c.4346A>T (p.Tyr1449Phe)
c.4292A>T (p.Tyr1431Phe)
c.4184A>T (p.Tyr1395Phe)
c.4217A>T (p.Tyr1406Phe)
c.4289A>T (p.Tyr1430Phe)
 ClinVar dbSNP
3g.38556532T>CCA018163SCN5Ac.4343A>G (p.Tyr1448Cys)
c.4346A>G (p.Tyr1449Cys)
c.4292A>G (p.Tyr1431Cys)
c.4184A>G (p.Tyr1395Cys)
c.4217A>G (p.Tyr1406Cys)
c.4289A>G (p.Tyr1430Cys)
 ClinVar dbSNP gnomAD v4
3g.38556532T>GCA352145425SCN5Ac.4343A>C (p.Tyr1448Ser)
c.4346A>C (p.Tyr1449Ser)
c.4292A>C (p.Tyr1431Ser)
c.4184A>C (p.Tyr1395Ser)
c.4217A>C (p.Tyr1406Ser)
c.4289A>C (p.Tyr1430Ser)
 ClinVar
3g.38556532T=CA1358563482SCN5Ac.4343A= (p.Tyr1448=)
c.4346A= (p.Tyr1449=)
c.4292A= (p.Tyr1431=)
c.4184A= (p.Tyr1395=)
c.4217A= (p.Tyr1406=)
c.4289A= (p.Tyr1430=)
3g.38556533A>CCA352145427SCN5Ac.4342T>G (p.Tyr1448Asp)
c.4345T>G (p.Tyr1449Asp)
c.4291T>G (p.Tyr1431Asp)
c.4183T>G (p.Tyr1395Asp)
c.4216T>G (p.Tyr1406Asp)
c.4288T>G (p.Tyr1430Asp)
3g.38556533A>GCA352145428SCN5Ac.4342T>C (p.Tyr1448His)
c.4345T>C (p.Tyr1449His)
c.4291T>C (p.Tyr1431His)
c.4183T>C (p.Tyr1395His)
c.4216T>C (p.Tyr1406His)
c.4288T>C (p.Tyr1430His)
3g.38556533A>TCA352145429SCN5Ac.4342T>A (p.Tyr1448Asn)
c.4345T>A (p.Tyr1449Asn)
c.4291T>A (p.Tyr1431Asn)
c.4183T>A (p.Tyr1395Asn)
c.4216T>A (p.Tyr1406Asn)
c.4288T>A (p.Tyr1430Asn)
3g.38556534G>ACA433136131SCN5Ac.4341C>T (p.Ile1447=)
c.4344C>T (p.Ile1448=)
c.4290C>T (p.Ile1430=)
c.4182C>T (p.Ile1394=)
c.4215C>T (p.Ile1405=)
c.4287C>T (p.Ile1429=)
3g.38556534G>CCA352145430SCN5Ac.4341C>G (p.Ile1447Met)
c.4344C>G (p.Ile1448Met)
c.4290C>G (p.Ile1430Met)
c.4182C>G (p.Ile1394Met)
c.4215C>G (p.Ile1405Met)
c.4287C>G (p.Ile1429Met)
3g.38556534G>TCA433136132SCN5Ac.4341C>A (p.Ile1447=)
c.4344C>A (p.Ile1448=)
c.4290C>A (p.Ile1430=)
c.4182C>A (p.Ile1394=)
c.4215C>A (p.Ile1405=)
c.4287C>A (p.Ile1429=)
3g.38556535A=CA1358563487SCN5Ac.4340T= (p.Ile1447=)
c.4343T= (p.Ile1448=)
c.4289T= (p.Ile1430=)
c.4181T= (p.Ile1394=)
c.4214T= (p.Ile1405=)
c.4286T= (p.Ile1429=)
3g.38556535A>CCA352145431SCN5Ac.4340T>G (p.Ile1447Ser)
c.4343T>G (p.Ile1448Ser)
c.4289T>G (p.Ile1430Ser)
c.4181T>G (p.Ile1394Ser)
c.4214T>G (p.Ile1405Ser)
c.4286T>G (p.Ile1429Ser)
3g.38556535A>GCA018157SCN5Ac.4340T>C (p.Ile1447Thr)
c.4343T>C (p.Ile1448Thr)
c.4289T>C (p.Ile1430Thr)
c.4181T>C (p.Ile1394Thr)
c.4214T>C (p.Ile1405Thr)
c.4286T>C (p.Ile1429Thr)
 ClinVar dbSNP
3g.38556535A>TCA352145432SCN5Ac.4340T>A (p.Ile1447Asn)
c.4343T>A (p.Ile1448Asn)
c.4289T>A (p.Ile1430Asn)
c.4181T>A (p.Ile1394Asn)
c.4214T>A (p.Ile1405Asn)
c.4286T>A (p.Ile1429Asn)
 gnomAD v4
3g.38556536T>ACA352145433SCN5Ac.4339A>T (p.Ile1447Phe)
c.4342A>T (p.Ile1448Phe)
c.4288A>T (p.Ile1430Phe)
c.4180A>T (p.Ile1394Phe)
c.4213A>T (p.Ile1405Phe)
c.4285A>T (p.Ile1429Phe)
3g.38556536T>CCA352145434SCN5Ac.4339A>G (p.Ile1447Val)
c.4342A>G (p.Ile1448Val)
c.4288A>G (p.Ile1430Val)
c.4180A>G (p.Ile1394Val)
c.4213A>G (p.Ile1405Val)
c.4285A>G (p.Ile1429Val)
3g.38556536T>GCA018152SCN5Ac.4339A>C (p.Ile1447Leu)
c.4342A>C (p.Ile1448Leu)
c.4288A>C (p.Ile1430Leu)
c.4180A>C (p.Ile1394Leu)
c.4213A>C (p.Ile1405Leu)
c.4285A>C (p.Ile1429Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556536T=CA1358563492SCN5Ac.4339A= (p.Ile1447=)
c.4342A= (p.Ile1448=)
c.4288A= (p.Ile1430=)
c.4180A= (p.Ile1394=)
c.4213A= (p.Ile1405=)
c.4285A= (p.Ile1429=)
3g.38556537G>ACA433136138SCN5Ac.4338C>T (p.Tyr1446=)
c.4341C>T (p.Tyr1447=)
c.4287C>T (p.Tyr1429=)
c.4179C>T (p.Tyr1393=)
c.4212C>T (p.Tyr1404=)
c.4284C>T (p.Tyr1428=)
 ClinVar dbSNP gnomAD v4
3g.38556537G>CCA352145435SCN5Ac.4338C>G (p.Tyr1446Ter)
c.4341C>G (p.Tyr1447Ter)
c.4287C>G (p.Tyr1429Ter)
c.4179C>G (p.Tyr1393Ter)
c.4212C>G (p.Tyr1404Ter)
c.4284C>G (p.Tyr1428Ter)
3g.38556537G=CA1358563501SCN5Ac.4338C= (p.Tyr1446=)
c.4341C= (p.Tyr1447=)
c.4287C= (p.Tyr1429=)
c.4179C= (p.Tyr1393=)
c.4212C= (p.Tyr1404=)
c.4284C= (p.Tyr1428=)
3g.38556537G>TCA352145436SCN5Ac.4338C>A (p.Tyr1446Ter)
c.4341C>A (p.Tyr1447Ter)
c.4287C>A (p.Tyr1429Ter)
c.4179C>A (p.Tyr1393Ter)
c.4212C>A (p.Tyr1404Ter)
c.4284C>A (p.Tyr1428Ter)
3g.38556538T>ACA352145439SCN5Ac.4337A>T (p.Tyr1446Phe)
c.4340A>T (p.Tyr1447Phe)
c.4286A>T (p.Tyr1429Phe)
c.4178A>T (p.Tyr1393Phe)
c.4211A>T (p.Tyr1404Phe)
c.4283A>T (p.Tyr1428Phe)
 COSMIC COSMIC COSMIC
3g.38556538T>CCA352145437SCN5Ac.4337A>G (p.Tyr1446Cys)
c.4340A>G (p.Tyr1447Cys)
c.4286A>G (p.Tyr1429Cys)
c.4178A>G (p.Tyr1393Cys)
c.4211A>G (p.Tyr1404Cys)
c.4283A>G (p.Tyr1428Cys)
3g.38556538T>GCA352145438SCN5Ac.4337A>C (p.Tyr1446Ser)
c.4340A>C (p.Tyr1447Ser)
c.4286A>C (p.Tyr1429Ser)
c.4178A>C (p.Tyr1393Ser)
c.4211A>C (p.Tyr1404Ser)
c.4283A>C (p.Tyr1428Ser)
3g.38556539A=CA1358563505SCN5Ac.4336T= (p.Tyr1446=)
c.4339T= (p.Tyr1447=)
c.4285T= (p.Tyr1429=)
c.4177T= (p.Tyr1393=)
c.4210T= (p.Tyr1404=)
c.4282T= (p.Tyr1428=)
3g.38556539A>CCA352145440SCN5Ac.4336T>G (p.Tyr1446Asp)
c.4339T>G (p.Tyr1447Asp)
c.4285T>G (p.Tyr1429Asp)
c.4177T>G (p.Tyr1393Asp)
c.4210T>G (p.Tyr1404Asp)
c.4282T>G (p.Tyr1428Asp)
 gnomAD v4
3g.38556539A>GCA16617946SCN5Ac.4336T>C (p.Tyr1446His)
c.4339T>C (p.Tyr1447His)
c.4285T>C (p.Tyr1429His)
c.4177T>C (p.Tyr1393His)
c.4210T>C (p.Tyr1404His)
c.4282T>C (p.Tyr1428His)
 ClinVar dbSNP
3g.38556539A>TCA352145441SCN5Ac.4336T>A (p.Tyr1446Asn)
c.4339T>A (p.Tyr1447Asn)
c.4285T>A (p.Tyr1429Asn)
c.4177T>A (p.Tyr1393Asn)
c.4210T>A (p.Tyr1404Asn)
c.4282T>A (p.Tyr1428Asn)
 gnomAD v4
3g.38556540C>ACA352145442SCN5Ac.4335G>T (p.Met1445Ile)
c.4338G>T (p.Met1446Ile)
c.4284G>T (p.Met1428Ile)
c.4176G>T (p.Met1392Ile)
c.4209G>T (p.Met1403Ile)
c.4281G>T (p.Met1427Ile)
 gnomAD v4
3g.38556540C=CA1358563508SCN5Ac.4335G= (p.Met1445=)
c.4338G= (p.Met1446=)
c.4284G= (p.Met1428=)
c.4176G= (p.Met1392=)
c.4209G= (p.Met1403=)
c.4281G= (p.Met1427=)
3g.38556540C>GCA352145443SCN5Ac.4335G>C (p.Met1445Ile)
c.4338G>C (p.Met1446Ile)
c.4284G>C (p.Met1428Ile)
c.4176G>C (p.Met1392Ile)
c.4209G>C (p.Met1403Ile)
c.4281G>C (p.Met1427Ile)
3g.38556540C>TCA018146SCN5Ac.4335G>A (p.Met1445Ile)
c.4338G>A (p.Met1446Ile)
c.4284G>A (p.Met1428Ile)
c.4176G>A (p.Met1392Ile)
c.4209G>A (p.Met1403Ile)
c.4281G>A (p.Met1427Ile)
 ClinVar dbSNP gnomAD v4
3g.38556541A=CA1358563512SCN5Ac.4334T= (p.Met1445=)
c.4337T= (p.Met1446=)
c.4283T= (p.Met1428=)
c.4175T= (p.Met1392=)
c.4208T= (p.Met1403=)
c.4280T= (p.Met1427=)
3g.38556541A>CCA352145444SCN5Ac.4334T>G (p.Met1445Arg)
c.4337T>G (p.Met1446Arg)
c.4283T>G (p.Met1428Arg)
c.4175T>G (p.Met1392Arg)
c.4208T>G (p.Met1403Arg)
c.4280T>G (p.Met1427Arg)
3g.38556541A>GCA352145445SCN5Ac.4334T>C (p.Met1445Thr)
c.4337T>C (p.Met1446Thr)
c.4283T>C (p.Met1428Thr)
c.4175T>C (p.Met1392Thr)
c.4208T>C (p.Met1403Thr)
c.4280T>C (p.Met1427Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38556541A>TCA352145446SCN5Ac.4334T>A (p.Met1445Lys)
c.4337T>A (p.Met1446Lys)
c.4283T>A (p.Met1428Lys)
c.4175T>A (p.Met1392Lys)
c.4208T>A (p.Met1403Lys)
c.4280T>A (p.Met1427Lys)
3g.38556542T>ACA352145447SCN5Ac.4333A>T (p.Met1445Leu)
c.4336A>T (p.Met1446Leu)
c.4282A>T (p.Met1428Leu)
c.4174A>T (p.Met1392Leu)
c.4207A>T (p.Met1403Leu)
c.4279A>T (p.Met1427Leu)
3g.38556542T>CCA352145448SCN5Ac.4333A>G (p.Met1445Val)
c.4336A>G (p.Met1446Val)
c.4282A>G (p.Met1428Val)
c.4174A>G (p.Met1392Val)
c.4207A>G (p.Met1403Val)
c.4279A>G (p.Met1427Val)
 dbSNP
3g.38556542T>GCA352145449SCN5Ac.4333A>C (p.Met1445Leu)
c.4336A>C (p.Met1446Leu)
c.4282A>C (p.Met1428Leu)
c.4174A>C (p.Met1392Leu)
c.4207A>C (p.Met1403Leu)
c.4279A>C (p.Met1427Leu)
3g.38556542T=CA1358563514SCN5Ac.4333A= (p.Met1445=)
c.4336A= (p.Met1446=)
c.4282A= (p.Met1428=)
c.4174A= (p.Met1392=)
c.4207A= (p.Met1403=)
c.4279A= (p.Met1427=)
3g.38556543G>ACA433136145SCN5Ac.4332C>T (p.Tyr1444=)
c.4335C>T (p.Tyr1445=)
c.4281C>T (p.Tyr1427=)
c.4173C>T (p.Tyr1391=)
c.4206C>T (p.Tyr1402=)
c.4278C>T (p.Tyr1426=)
3g.38556543G>CCA352145451SCN5Ac.4332C>G (p.Tyr1444Ter)
c.4335C>G (p.Tyr1445Ter)
c.4281C>G (p.Tyr1427Ter)
c.4173C>G (p.Tyr1391Ter)
c.4206C>G (p.Tyr1402Ter)
c.4278C>G (p.Tyr1426Ter)
3g.38556543G>TCA352145450SCN5Ac.4332C>A (p.Tyr1444Ter)
c.4335C>A (p.Tyr1445Ter)
c.4281C>A (p.Tyr1427Ter)
c.4173C>A (p.Tyr1391Ter)
c.4206C>A (p.Tyr1402Ter)
c.4278C>A (p.Tyr1426Ter)
3g.38556544T>ACA352145452SCN5Ac.4331A>T (p.Tyr1444Phe)
c.4334A>T (p.Tyr1445Phe)
c.4280A>T (p.Tyr1427Phe)
c.4172A>T (p.Tyr1391Phe)
c.4205A>T (p.Tyr1402Phe)
c.4277A>T (p.Tyr1426Phe)
3g.38556544T>CCA352145454SCN5Ac.4331A>G (p.Tyr1444Cys)
c.4334A>G (p.Tyr1445Cys)
c.4280A>G (p.Tyr1427Cys)
c.4172A>G (p.Tyr1391Cys)
c.4205A>G (p.Tyr1402Cys)
c.4277A>G (p.Tyr1426Cys)
 gnomAD v4
3g.38556544T>GCA352145453SCN5Ac.4331A>C (p.Tyr1444Ser)
c.4334A>C (p.Tyr1445Ser)
c.4280A>C (p.Tyr1427Ser)
c.4172A>C (p.Tyr1391Ser)
c.4205A>C (p.Tyr1402Ser)
c.4277A>C (p.Tyr1426Ser)
 gnomAD v4
3g.38556545A=CA1358563519SCN5Ac.4330T= (p.Tyr1444=)
c.4333T= (p.Tyr1445=)
c.4279T= (p.Tyr1427=)
c.4171T= (p.Tyr1391=)
c.4204T= (p.Tyr1402=)
c.4276T= (p.Tyr1426=)
3g.38556545A>CCA352145455SCN5Ac.4330T>G (p.Tyr1444Asp)
c.4333T>G (p.Tyr1445Asp)
c.4279T>G (p.Tyr1427Asp)
c.4171T>G (p.Tyr1391Asp)
c.4204T>G (p.Tyr1402Asp)
c.4276T>G (p.Tyr1426Asp)
3g.38556545A>GCA063134SCN5Ac.4330T>C (p.Tyr1444His)
c.4333T>C (p.Tyr1445His)
c.4279T>C (p.Tyr1427His)
c.4171T>C (p.Tyr1391His)
c.4204T>C (p.Tyr1402His)
c.4276T>C (p.Tyr1426His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38556545A>TCA352145456SCN5Ac.4330T>A (p.Tyr1444Asn)
c.4333T>A (p.Tyr1445Asn)
c.4279T>A (p.Tyr1427Asn)
c.4171T>A (p.Tyr1391Asn)
c.4204T>A (p.Tyr1402Asn)
c.4276T>A (p.Tyr1426Asn)
3g.38556546G>ACA433136146SCN5Ac.4329C>T (p.Leu1443=)
c.4332C>T (p.Leu1444=)
c.4278C>T (p.Leu1426=)
c.4170C>T (p.Leu1390=)
c.4203C>T (p.Leu1401=)
c.4275C>T (p.Leu1425=)
3g.38556546G>CCA433136147SCN5Ac.4329C>G (p.Leu1443=)
c.4332C>G (p.Leu1444=)
c.4278C>G (p.Leu1426=)
c.4170C>G (p.Leu1390=)
c.4203C>G (p.Leu1401=)
c.4275C>G (p.Leu1425=)
3g.38556546G>TCA433136149SCN5Ac.4329C>A (p.Leu1443=)
c.4332C>A (p.Leu1444=)
c.4278C>A (p.Leu1426=)
c.4170C>A (p.Leu1390=)
c.4203C>A (p.Leu1401=)
c.4275C>A (p.Leu1425=)
3g.38556547A>CCA352145457SCN5Ac.4328T>G (p.Leu1443Arg)
c.4331T>G (p.Leu1444Arg)
c.4277T>G (p.Leu1426Arg)
c.4169T>G (p.Leu1390Arg)
c.4202T>G (p.Leu1401Arg)
c.4274T>G (p.Leu1425Arg)
 ClinVar
3g.38556547A>GCA352145458SCN5Ac.4328T>C (p.Leu1443Pro)
c.4331T>C (p.Leu1444Pro)
c.4277T>C (p.Leu1426Pro)
c.4169T>C (p.Leu1390Pro)
c.4202T>C (p.Leu1401Pro)
c.4274T>C (p.Leu1425Pro)
 ClinVar
3g.38556547A>TCA352145459SCN5Ac.4328T>A (p.Leu1443His)
c.4331T>A (p.Leu1444His)
c.4277T>A (p.Leu1426His)
c.4169T>A (p.Leu1390His)
c.4202T>A (p.Leu1401His)
c.4274T>A (p.Leu1425His)
3g.38556548G>ACA352145460SCN5Ac.4327C>T (p.Leu1443Phe)
c.4330C>T (p.Leu1444Phe)
c.4276C>T (p.Leu1426Phe)
c.4168C>T (p.Leu1390Phe)
c.4201C>T (p.Leu1401Phe)
c.4273C>T (p.Leu1425Phe)
3g.38556548G>CCA352145461SCN5Ac.4327C>G (p.Leu1443Val)
c.4330C>G (p.Leu1444Val)
c.4276C>G (p.Leu1426Val)
c.4168C>G (p.Leu1390Val)
c.4201C>G (p.Leu1401Val)
c.4273C>G (p.Leu1425Val)
3g.38556548G=CA1358563521SCN5Ac.4327C= (p.Leu1443=)
c.4330C= (p.Leu1444=)
c.4276C= (p.Leu1426=)
c.4168C= (p.Leu1390=)
c.4201C= (p.Leu1401=)
c.4273C= (p.Leu1425=)
3g.38556548G>TCA352145462SCN5Ac.4327C>A (p.Leu1443Ile)
c.4330C>A (p.Leu1444Ile)
c.4276C>A (p.Leu1426Ile)
c.4168C>A (p.Leu1390Ile)
c.4201C>A (p.Leu1401Ile)
c.4273C>A (p.Leu1425Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.38556549G>ACA433136152SCN5Ac.4326C>T (p.Asn1442=)
c.4329C>T (p.Asn1443=)
c.4275C>T (p.Asn1425=)
c.4167C>T (p.Asn1389=)
c.4200C>T (p.Asn1400=)
c.4272C>T (p.Asn1424=)
 ClinVar dbSNP
3g.38556549G>CCA352145463SCN5Ac.4326C>G (p.Asn1442Lys)
c.4329C>G (p.Asn1443Lys)
c.4275C>G (p.Asn1425Lys)
c.4167C>G (p.Asn1389Lys)
c.4200C>G (p.Asn1400Lys)
c.4272C>G (p.Asn1424Lys)
3g.38556549G=CA1358563525SCN5Ac.4326C= (p.Asn1442=)
c.4329C= (p.Asn1443=)
c.4275C= (p.Asn1425=)
c.4167C= (p.Asn1389=)
c.4200C= (p.Asn1400=)
c.4272C= (p.Asn1424=)
3g.38556549G>TCA352145464SCN5Ac.4326C>A (p.Asn1442Lys)
c.4329C>A (p.Asn1443Lys)
c.4275C>A (p.Asn1425Lys)
c.4167C>A (p.Asn1389Lys)
c.4200C>A (p.Asn1400Lys)
c.4272C>A (p.Asn1424Lys)
 ClinVar dbSNP gnomAD v4
3g.38556550T>ACA352145465SCN5Ac.4325A>T (p.Asn1442Ile)
c.4328A>T (p.Asn1443Ile)
c.4274A>T (p.Asn1425Ile)
c.4166A>T (p.Asn1389Ile)
c.4199A>T (p.Asn1400Ile)
c.4271A>T (p.Asn1424Ile)
3g.38556550T>CCA352145466SCN5Ac.4325A>G (p.Asn1442Ser)
c.4328A>G (p.Asn1443Ser)
c.4274A>G (p.Asn1425Ser)
c.4166A>G (p.Asn1389Ser)
c.4199A>G (p.Asn1400Ser)
c.4271A>G (p.Asn1424Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38556550T>GCA352145467SCN5Ac.4325A>C (p.Asn1442Thr)
c.4328A>C (p.Asn1443Thr)
c.4274A>C (p.Asn1425Thr)
c.4166A>C (p.Asn1389Thr)
c.4199A>C (p.Asn1400Thr)
c.4271A>C (p.Asn1424Thr)
 ClinVar
3g.38556550T=CA1358563529SCN5Ac.4325A= (p.Asn1442=)
c.4328A= (p.Asn1443=)
c.4274A= (p.Asn1425=)
c.4166A= (p.Asn1389=)
c.4199A= (p.Asn1400=)
c.4271A= (p.Asn1424=)
3g.38556551delCA2697550803SCN5Ac.4325del (p.Asn1442ThrfsTer20)
c.4328del (p.Asn1443ThrfsTer20)
c.4274del (p.Asn1425ThrfsTer20)
c.4166del (p.Asn1389ThrfsTer20)
c.4199del (p.Asn1400ThrfsTer20)
c.4271del (p.Asn1424ThrfsTer20)
 ClinVar
3g.38556551T>ACA352145470SCN5Ac.4324A>T (p.Asn1442Tyr)
c.4327A>T (p.Asn1443Tyr)
c.4273A>T (p.Asn1425Tyr)
c.4165A>T (p.Asn1389Tyr)
c.4198A>T (p.Asn1400Tyr)
c.4270A>T (p.Asn1424Tyr)
3g.38556551T>CCA352145468SCN5Ac.4324A>G (p.Asn1442Asp)
c.4327A>G (p.Asn1443Asp)
c.4273A>G (p.Asn1425Asp)
c.4165A>G (p.Asn1389Asp)
c.4198A>G (p.Asn1400Asp)
c.4270A>G (p.Asn1424Asp)
3g.38556551T>GCA352145469SCN5Ac.4324A>C (p.Asn1442His)
c.4327A>C (p.Asn1443His)
c.4273A>C (p.Asn1425His)
c.4165A>C (p.Asn1389His)
c.4198A>C (p.Asn1400His)
c.4270A>C (p.Asn1424His)
3g.38556552G>ACA433136156SCN5Ac.4323C>T (p.Tyr1441=)
c.4326C>T (p.Tyr1442=)
c.4272C>T (p.Tyr1424=)
c.4164C>T (p.Tyr1388=)
c.4197C>T (p.Tyr1399=)
c.4269C>T (p.Tyr1423=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38556552G>CCA352145471SCN5Ac.4323C>G (p.Tyr1441Ter)
c.4326C>G (p.Tyr1442Ter)
c.4272C>G (p.Tyr1424Ter)
c.4164C>G (p.Tyr1388Ter)
c.4197C>G (p.Tyr1399Ter)
c.4269C>G (p.Tyr1423Ter)
3g.38556552G=CA1358563534SCN5Ac.4323C= (p.Tyr1441=)
c.4326C= (p.Tyr1442=)
c.4272C= (p.Tyr1424=)
c.4164C= (p.Tyr1388=)
c.4197C= (p.Tyr1399=)
c.4269C= (p.Tyr1423=)
3g.38556552G>TCA352145472SCN5Ac.4323C>A (p.Tyr1441Ter)
c.4326C>A (p.Tyr1442Ter)
c.4272C>A (p.Tyr1424Ter)
c.4164C>A (p.Tyr1388Ter)
c.4197C>A (p.Tyr1399Ter)
c.4269C>A (p.Tyr1423Ter)
3g.38556553T>ACA352145473SCN5Ac.4322A>T (p.Tyr1441Phe)
c.4325A>T (p.Tyr1442Phe)
c.4271A>T (p.Tyr1424Phe)
c.4163A>T (p.Tyr1388Phe)
c.4196A>T (p.Tyr1399Phe)
c.4268A>T (p.Tyr1423Phe)
3g.38556553T>CCA063128SCN5Ac.4322A>G (p.Tyr1441Cys)
c.4325A>G (p.Tyr1442Cys)
c.4271A>G (p.Tyr1424Cys)
c.4163A>G (p.Tyr1388Cys)
c.4196A>G (p.Tyr1399Cys)
c.4268A>G (p.Tyr1423Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38556553T>GCA352145474SCN5Ac.4322A>C (p.Tyr1441Ser)
c.4325A>C (p.Tyr1442Ser)
c.4271A>C (p.Tyr1424Ser)
c.4163A>C (p.Tyr1388Ser)
c.4196A>C (p.Tyr1399Ser)
c.4268A>C (p.Tyr1423Ser)
3g.38556553T=CA1358563539SCN5Ac.4322A= (p.Tyr1441=)
c.4325A= (p.Tyr1442=)
c.4271A= (p.Tyr1424=)
c.4163A= (p.Tyr1388=)
c.4196A= (p.Tyr1399=)
c.4268A= (p.Tyr1423=)
3g.38556554A=CA1358563542SCN5Ac.4321T= (p.Tyr1441=)
c.4324T= (p.Tyr1442=)
c.4270T= (p.Tyr1424=)
c.4162T= (p.Tyr1388=)
c.4195T= (p.Tyr1399=)
c.4267T= (p.Tyr1423=)
3g.38556554A>CCA72943351SCN5Ac.4321T>G (p.Tyr1441Asp)
c.4324T>G (p.Tyr1442Asp)
c.4270T>G (p.Tyr1424Asp)
c.4162T>G (p.Tyr1388Asp)
c.4195T>G (p.Tyr1399Asp)
c.4267T>G (p.Tyr1423Asp)
 dbSNP
3g.38556554A>GCA352145475SCN5Ac.4321T>C (p.Tyr1441His)
c.4324T>C (p.Tyr1442His)
c.4270T>C (p.Tyr1424His)
c.4162T>C (p.Tyr1388His)
c.4195T>C (p.Tyr1399His)
c.4267T>C (p.Tyr1423His)
3g.38556554A>TCA063121SCN5Ac.4321T>A (p.Tyr1441Asn)
c.4324T>A (p.Tyr1442Asn)
c.4270T>A (p.Tyr1424Asn)
c.4162T>A (p.Tyr1388Asn)
c.4195T>A (p.Tyr1399Asn)
c.4267T>A (p.Tyr1423Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38556555T>ACA352145476SCN5Ac.4320A>T (p.Glu1440Asp)
c.4323A>T (p.Glu1441Asp)
c.4269A>T (p.Glu1423Asp)
c.4161A>T (p.Glu1387Asp)
c.4194A>T (p.Glu1398Asp)
c.4266A>T (p.Glu1422Asp)
3g.38556555T>CCA433136158SCN5Ac.4320A>G (p.Glu1440=)
c.4323A>G (p.Glu1441=)
c.4269A>G (p.Glu1423=)
c.4161A>G (p.Glu1387=)
c.4194A>G (p.Glu1398=)
c.4266A>G (p.Glu1422=)
3g.38556555T>GCA352145477SCN5Ac.4320A>C (p.Glu1440Asp)
c.4323A>C (p.Glu1441Asp)
c.4269A>C (p.Glu1423Asp)
c.4161A>C (p.Glu1387Asp)
c.4194A>C (p.Glu1398Asp)
c.4266A>C (p.Glu1422Asp)
3g.38556556dupCA2499216731SCN5Ac.4320dup (p.Tyr1441IlefsTer30)
c.4323dup (p.Tyr1442IlefsTer30)
c.4269dup (p.Tyr1424IlefsTer30)
c.4161dup (p.Tyr1388IlefsTer30)
c.4194dup (p.Tyr1399IlefsTer30)
c.4266dup (p.Tyr1423IlefsTer30)
 ClinVar dbSNP
3g.38556556T>ACA352145479SCN5Ac.4319A>T (p.Glu1440Val)
c.4322A>T (p.Glu1441Val)
c.4268A>T (p.Glu1423Val)
c.4160A>T (p.Glu1387Val)
c.4193A>T (p.Glu1398Val)
c.4265A>T (p.Glu1422Val)
3g.38556556T>CCA352145480SCN5Ac.4319A>G (p.Glu1440Gly)
c.4322A>G (p.Glu1441Gly)
c.4268A>G (p.Glu1423Gly)
c.4160A>G (p.Glu1387Gly)
c.4193A>G (p.Glu1398Gly)
c.4265A>G (p.Glu1422Gly)
3g.38556556T>GCA352145478SCN5Ac.4319A>C (p.Glu1440Ala)
c.4322A>C (p.Glu1441Ala)
c.4268A>C (p.Glu1423Ala)
c.4160A>C (p.Glu1387Ala)
c.4193A>C (p.Glu1398Ala)
c.4265A>C (p.Glu1422Ala)
3g.38556556_38556557delinsTCCA1358563545SCN5Ac.4318_4319delinsGA (p.Glu1440=)
c.4321_4322delinsGA (p.Glu1441=)
c.4267_4268delinsGA (p.Glu1423=)
c.4159_4160delinsGA (p.Glu1387=)
c.4192_4193delinsGA (p.Glu1398=)
c.4264_4265delinsGA (p.Glu1422=)
3g.38556557C>ACA352145481SCN5Ac.4318G>T (p.Glu1440Ter)
c.4321G>T (p.Glu1441Ter)
c.4267G>T (p.Glu1423Ter)
c.4159G>T (p.Glu1387Ter)
c.4192G>T (p.Glu1398Ter)
c.4264G>T (p.Glu1422Ter)
 dbSNP
3g.38556557C=CA1358563554SCN5Ac.4318G= (p.Glu1440=)
c.4321G= (p.Glu1441=)
c.4267G= (p.Glu1423=)
c.4159G= (p.Glu1387=)
c.4192G= (p.Glu1398=)
c.4264G= (p.Glu1422=)
3g.38556557C>GCA018141SCN5Ac.4318G>C (p.Glu1440Gln)
c.4321G>C (p.Glu1441Gln)
c.4267G>C (p.Glu1423Gln)
c.4159G>C (p.Glu1387Gln)
c.4192G>C (p.Glu1398Gln)
c.4264G>C (p.Glu1422Gln)
 ClinVar dbSNP
3g.38556557C>TCA352145482SCN5Ac.4318G>A (p.Glu1440Lys)
c.4321G>A (p.Glu1441Lys)
c.4267G>A (p.Glu1423Lys)
c.4159G>A (p.Glu1387Lys)
c.4192G>A (p.Glu1398Lys)
c.4264G>A (p.Glu1422Lys)
3g.38556559dupCA1358563553SCN5Ac.4318dup (p.Glu1440GlyfsTer?)
c.4321dup (p.Glu1441GlyfsTer?)
c.4267dup (p.Glu1423GlyfsTer?)
c.4159dup (p.Glu1387GlyfsTer?)
c.4192dup (p.Glu1398GlyfsTer?)
c.4264dup (p.Glu1422GlyfsTer?)
 dbSNP
3g.38556559delCA906898018SCN5Ac.4318del (p.Glu1440AsnfsTer22)
c.4321del (p.Glu1441AsnfsTer22)
c.4267del (p.Glu1423AsnfsTer22)
c.4159del (p.Glu1387AsnfsTer22)
c.4192del (p.Glu1398AsnfsTer22)
c.4264del (p.Glu1422AsnfsTer22)
 dbSNP
3g.38556558C>ACA352145483SCN5Ac.4317G>T (p.Trp1439Cys)
c.4320G>T (p.Trp1440Cys)
c.4266G>T (p.Trp1422Cys)
c.4158G>T (p.Trp1386Cys)
c.4191G>T (p.Trp1397Cys)
c.4263G>T (p.Trp1421Cys)
3g.38556558C=CA1358563559SCN5Ac.4317G= (p.Trp1439=)
c.4320G= (p.Trp1440=)
c.4266G= (p.Trp1422=)
c.4158G= (p.Trp1386=)
c.4191G= (p.Trp1397=)
c.4263G= (p.Trp1421=)
3g.38556558C>GCA352145484SCN5Ac.4317G>C (p.Trp1439Cys)
c.4320G>C (p.Trp1440Cys)
c.4266G>C (p.Trp1422Cys)
c.4158G>C (p.Trp1386Cys)
c.4191G>C (p.Trp1397Cys)
c.4263G>C (p.Trp1421Cys)
3g.38556558C>TCA352145485SCN5Ac.4317G>A (p.Trp1439Ter)
c.4320G>A (p.Trp1440Ter)
c.4266G>A (p.Trp1422Ter)
c.4158G>A (p.Trp1386Ter)
c.4191G>A (p.Trp1397Ter)
c.4263G>A (p.Trp1421Ter)
 dbSNP gnomAD v2
3g.38556559C>ACA352145486SCN5Ac.4316G>T (p.Trp1439Leu)
c.4319G>T (p.Trp1440Leu)
c.4265G>T (p.Trp1422Leu)
c.4157G>T (p.Trp1386Leu)
c.4190G>T (p.Trp1397Leu)
c.4262G>T (p.Trp1421Leu)
3g.38556559C>GCA352145487SCN5Ac.4316G>C (p.Trp1439Ser)
c.4319G>C (p.Trp1440Ser)
c.4265G>C (p.Trp1422Ser)
c.4157G>C (p.Trp1386Ser)
c.4190G>C (p.Trp1397Ser)
c.4262G>C (p.Trp1421Ser)
3g.38556559C>TCA352145488SCN5Ac.4316G>A (p.Trp1439Ter)
c.4319G>A (p.Trp1440Ter)
c.4265G>A (p.Trp1422Ter)
c.4157G>A (p.Trp1386Ter)
c.4190G>A (p.Trp1397Ter)
c.4262G>A (p.Trp1421Ter)
 ClinVar dbSNP gnomAD v4
3g.38556560A=CA1358563563SCN5Ac.4315T= (p.Trp1439=)
c.4318T= (p.Trp1440=)
c.4264T= (p.Trp1422=)
c.4156T= (p.Trp1386=)
c.4189T= (p.Trp1397=)
c.4261T= (p.Trp1421=)
3g.38556560A>CCA352145489SCN5Ac.4315T>G (p.Trp1439Gly)
c.4318T>G (p.Trp1440Gly)
c.4264T>G (p.Trp1422Gly)
c.4156T>G (p.Trp1386Gly)
c.4189T>G (p.Trp1397Gly)
c.4261T>G (p.Trp1421Gly)
3g.38556560A>GCA352145490SCN5Ac.4315T>C (p.Trp1439Arg)
c.4318T>C (p.Trp1440Arg)
c.4264T>C (p.Trp1422Arg)
c.4156T>C (p.Trp1386Arg)
c.4189T>C (p.Trp1397Arg)
c.4261T>C (p.Trp1421Arg)
3g.38556560A>TCA352145491SCN5Ac.4315T>A (p.Trp1439Arg)
c.4318T>A (p.Trp1440Arg)
c.4264T>A (p.Trp1422Arg)
c.4156T>A (p.Trp1386Arg)
c.4189T>A (p.Trp1397Arg)
c.4261T>A (p.Trp1421Arg)
 ClinVar dbSNP
3g.38556561C>ACA352145492SCN5Ac.4314G>T (p.Gln1438His)
c.4317G>T (p.Gln1439His)
c.4263G>T (p.Gln1421His)
c.4155G>T (p.Gln1385His)
c.4188G>T (p.Gln1396His)
c.4260G>T (p.Gln1420His)
3g.38556561C=CA1358563568SCN5Ac.4314G= (p.Gln1438=)
c.4317G= (p.Gln1439=)
c.4263G= (p.Gln1421=)
c.4155G= (p.Gln1385=)
c.4188G= (p.Gln1396=)
c.4260G= (p.Gln1420=)
3g.38556561C>GCA063115SCN5Ac.4314G>C (p.Gln1438His)
c.4317G>C (p.Gln1439His)
c.4263G>C (p.Gln1421His)
c.4155G>C (p.Gln1385His)
c.4188G>C (p.Gln1396His)
c.4260G>C (p.Gln1420His)
 dbSNP ExAC gnomAD v2
3g.38556561C>TCA063111SCN5Ac.4314G>A (p.Gln1438=)
c.4317G>A (p.Gln1439=)
c.4263G>A (p.Gln1421=)
c.4155G>A (p.Gln1385=)
c.4188G>A (p.Gln1396=)
c.4260G>A (p.Gln1420=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38556562T>ACA352145493SCN5Ac.4313A>T (p.Gln1438Leu)
c.4316A>T (p.Gln1439Leu)
c.4262A>T (p.Gln1421Leu)
c.4154A>T (p.Gln1385Leu)
c.4187A>T (p.Gln1396Leu)
c.4259A>T (p.Gln1420Leu)
3g.38556562T>CCA352145494SCN5Ac.4313A>G (p.Gln1438Arg)
c.4316A>G (p.Gln1439Arg)
c.4262A>G (p.Gln1421Arg)
c.4154A>G (p.Gln1385Arg)
c.4187A>G (p.Gln1396Arg)
c.4259A>G (p.Gln1420Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38556562T>GCA352145495SCN5Ac.4313A>C (p.Gln1438Pro)
c.4316A>C (p.Gln1439Pro)
c.4262A>C (p.Gln1421Pro)
c.4154A>C (p.Gln1385Pro)
c.4187A>C (p.Gln1396Pro)
c.4259A>C (p.Gln1420Pro)
3g.38556562T=CA1358563572SCN5Ac.4313A= (p.Gln1438=)
c.4316A= (p.Gln1439=)
c.4262A= (p.Gln1421=)
c.4154A= (p.Gln1385=)
c.4187A= (p.Gln1396=)
c.4259A= (p.Gln1420=)
3g.38556562dupCA2499216732SCN5Ac.4313dup (p.Trp1439ValfsTer?)
c.4316dup (p.Trp1440ValfsTer?)
c.4262dup (p.Trp1422ValfsTer?)
c.4154dup (p.Trp1386ValfsTer?)
c.4187dup (p.Trp1397ValfsTer?)
c.4259dup (p.Trp1421ValfsTer?)
 ClinVar dbSNP
3g.38556563G>ACA352145496SCN5Ac.4312C>T (p.Gln1438Ter)
c.4315C>T (p.Gln1439Ter)
c.4261C>T (p.Gln1421Ter)
c.4153C>T (p.Gln1385Ter)
c.4186C>T (p.Gln1396Ter)
c.4258C>T (p.Gln1420Ter)
 dbSNP
3g.38556563G>CCA352145497SCN5Ac.4312C>G (p.Gln1438Glu)
c.4315C>G (p.Gln1439Glu)
c.4261C>G (p.Gln1421Glu)
c.4153C>G (p.Gln1385Glu)
c.4186C>G (p.Gln1396Glu)
c.4258C>G (p.Gln1420Glu)
3g.38556563G=CA1358563577SCN5Ac.4312C= (p.Gln1438=)
c.4315C= (p.Gln1439=)
c.4261C= (p.Gln1421=)
c.4153C= (p.Gln1385=)
c.4186C= (p.Gln1396=)
c.4258C= (p.Gln1420=)
3g.38556563G>TCA352145498SCN5Ac.4312C>A (p.Gln1438Lys)
c.4315C>A (p.Gln1439Lys)
c.4261C>A (p.Gln1421Lys)
c.4153C>A (p.Gln1385Lys)
c.4186C>A (p.Gln1396Lys)
c.4258C>A (p.Gln1420Lys)
3g.38556564A>CCA433136164SCN5Ac.4311T>G (p.Pro1437=)
c.4314T>G (p.Pro1438=)
c.4260T>G (p.Pro1420=)
c.4152T>G (p.Pro1384=)
c.4185T>G (p.Pro1395=)
c.4257T>G (p.Pro1419=)
3g.38556564A>GCA433136165SCN5Ac.4311T>C (p.Pro1437=)
c.4314T>C (p.Pro1438=)
c.4260T>C (p.Pro1420=)
c.4152T>C (p.Pro1384=)
c.4185T>C (p.Pro1395=)
c.4257T>C (p.Pro1419=)
3g.38556564A>TCA433136166SCN5Ac.4311T>A (p.Pro1437=)
c.4314T>A (p.Pro1438=)
c.4260T>A (p.Pro1420=)
c.4152T>A (p.Pro1384=)
c.4185T>A (p.Pro1395=)
c.4257T>A (p.Pro1419=)
3g.38556564_38556565delinsAGCA1358563580SCN5Ac.4310_4311delinsCT (p.Pro1437=)
c.4313_4314delinsCT (p.Pro1438=)
c.4259_4260delinsCT (p.Pro1420=)
c.4151_4152delinsCT (p.Pro1384=)
c.4184_4185delinsCT (p.Pro1395=)
c.4256_4257delinsCT (p.Pro1419=)
3g.38556565G>ACA018135SCN5Ac.4310C>T (p.Pro1437Leu)
c.4313C>T (p.Pro1438Leu)
c.4259C>T (p.Pro1420Leu)
c.4151C>T (p.Pro1384Leu)
c.4184C>T (p.Pro1395Leu)
c.4256C>T (p.Pro1419Leu)
 ClinVar dbSNP
3g.38556565G>CCA352145499SCN5Ac.4310C>G (p.Pro1437Arg)
c.4313C>G (p.Pro1438Arg)
c.4259C>G (p.Pro1420Arg)
c.4151C>G (p.Pro1384Arg)
c.4184C>G (p.Pro1395Arg)
c.4256C>G (p.Pro1419Arg)
3g.38556565G=CA1358563586SCN5Ac.4310C= (p.Pro1437=)
c.4313C= (p.Pro1438=)
c.4259C= (p.Pro1420=)
c.4151C= (p.Pro1384=)
c.4184C= (p.Pro1395=)
c.4256C= (p.Pro1419=)
3g.38556565G>TCA352145500SCN5Ac.4310C>A (p.Pro1437His)
c.4313C>A (p.Pro1438His)
c.4259C>A (p.Pro1420His)
c.4151C>A (p.Pro1384His)
c.4184C>A (p.Pro1395His)
c.4256C>A (p.Pro1419His)
3g.38556566delCA72943359SCN5Ac.4310del (p.Pro1437LeufsTer25)
c.4313del (p.Pro1438LeufsTer25)
c.4259del (p.Pro1420LeufsTer25)
c.4151del (p.Pro1384LeufsTer25)
c.4184del (p.Pro1395LeufsTer25)
c.4256del (p.Pro1419LeufsTer25)
 dbSNP

Number of alleles fetched