Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38566397_38566410delCA2665111939SCN5Ac.3837+1_3837+14del
c.3840+1_3840+14del
c.3678+1_3678+14del
c.3711+1_3711+14del
 gnomAD v4
3g.38566403_38566404dupCA2319540SCN5Ac.3837+8_3837+9dup (n.3837+8_3837+9dup)
c.3840+8_3840+9dup (n.3840+8_3840+9dup)
c.3678+8_3678+9dup (n.3678+8_3678+9dup)
c.3711+8_3711+9dup (n.3711+8_3711+9dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566403_38566404delCA062360SCN5Ac.3837+8_3837+9del (n.3837+8_3837+9del)
c.3840+8_3840+9del (n.3840+8_3840+9del)
c.3678+8_3678+9del (n.3678+8_3678+9del)
c.3711+8_3711+9del (n.3711+8_3711+9del)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566402C>ACA062356SCN5Ac.3837+7G>T (n.3837+7G>T)
c.3840+7G>T (n.3840+7G>T)
c.3678+7G>T (n.3678+7G>T)
c.3711+7G>T (n.3711+7G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566402C=CA1358569404SCN5Ac.3837+7G= (n.3837+7G=)
c.3840+7G= (n.3840+7G=)
c.3678+7G= (n.3678+7G=)
c.3711+7G= (n.3711+7G=)
3g.38566403A=CA1358569405SCN5Ac.3837+6T= (n.3837+6T=)
c.3840+6T= (n.3840+6T=)
c.3678+6T= (n.3678+6T=)
c.3711+6T= (n.3711+6T=)
3g.38566403A>GCA542615590SCN5Ac.3837+6T>C (n.3837+6T>C)
c.3840+6T>C (n.3840+6T>C)
c.3678+6T>C (n.3678+6T>C)
c.3711+6T>C (n.3711+6T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38566404C=CA1358569407SCN5Ac.3837+5G= (n.3837+5G=)
c.3840+5G= (n.3840+5G=)
c.3678+5G= (n.3678+5G=)
c.3711+5G= (n.3711+5G=)
3g.38566404C>TCA017550SCN5Ac.3837+5G>A (n.3837+5G>A)
c.3840+5G>A (n.3840+5G>A)
c.3678+5G>A (n.3678+5G>A)
c.3711+5G>A (n.3711+5G>A)
 ClinVar dbSNP
3g.38566406C>TCA2665111940SCN5Ac.3837+3G>A (n.3837+3G>A)
c.3840+3G>A (n.3840+3G>A)
c.3678+3G>A (n.3678+3G>A)
c.3711+3G>A (n.3711+3G>A)
 ClinVar gnomAD v4
3g.38566407A>CCA352148829SCN5Ac.3837+2T>G (n.3837+2T>G)
c.3840+2T>G (n.3840+2T>G)
c.3678+2T>G (n.3678+2T>G)
c.3711+2T>G (n.3711+2T>G)
3g.38566407A>GCA352148831SCN5Ac.3837+2T>C (n.3837+2T>C)
c.3840+2T>C (n.3840+2T>C)
c.3678+2T>C (n.3678+2T>C)
c.3711+2T>C (n.3711+2T>C)
3g.38566407A>TCA352148832SCN5Ac.3837+2T>A (n.3837+2T>A)
c.3840+2T>A (n.3840+2T>A)
c.3678+2T>A (n.3678+2T>A)
c.3711+2T>A (n.3711+2T>A)
3g.38566408C>ACA352148834SCN5Ac.3837+1G>T (n.3837+1G>T)
c.3840+1G>T (n.3840+1G>T)
c.3678+1G>T (n.3678+1G>T)
c.3711+1G>T (n.3711+1G>T)
 COSMIC COSMIC COSMIC
3g.38566408C=CA1358569412SCN5Ac.3837+1G= (n.3837+1G=)
c.3840+1G= (n.3840+1G=)
c.3678+1G= (n.3678+1G=)
c.3711+1G= (n.3711+1G=)
3g.38566408C>GCA352148835SCN5Ac.3837+1G>C (n.3837+1G>C)
c.3840+1G>C (n.3840+1G>C)
c.3678+1G>C (n.3678+1G>C)
c.3711+1G>C (n.3711+1G>C)
3g.38566408C>TCA352148837SCN5Ac.3837+1G>A (n.3837+1G>A)
c.3840+1G>A (n.3840+1G>A)
c.3678+1G>A (n.3678+1G>A)
c.3711+1G>A (n.3711+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38566409G>ACA062368SCN5Ac.3837C>T (p.Asp1279=)
c.3840C>T (p.Asp1280=)
c.3678C>T (p.Asp1226=)
c.3711C>T (p.Asp1237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566409G>CCA352148840SCN5Ac.3837C>G (p.Asp1279Glu)
c.3840C>G (p.Asp1280Glu)
c.3678C>G (p.Asp1226Glu)
c.3711C>G (p.Asp1237Glu)
3g.38566409G=CA1358569418SCN5Ac.3837C= (p.Asp1279=)
c.3840C= (p.Asp1280=)
c.3678C= (p.Asp1226=)
c.3711C= (p.Asp1237=)
3g.38566409G>TCA352148841SCN5Ac.3837C>A (p.Asp1279Glu)
c.3840C>A (p.Asp1280Glu)
c.3678C>A (p.Asp1226Glu)
c.3711C>A (p.Asp1237Glu)
 COSMIC COSMIC COSMIC
3g.38566409_38566410delCA2665111941SCN5Ac.3836_3837del (p.Asp1279GlyfsTer?)
c.3839_3840del (p.Asp1280GlyfsTer?)
c.3677_3678del (p.Asp1226GlyfsTer?)
c.3710_3711del (p.Asp1237GlyfsTer?)
 gnomAD v4
3g.38566410T>ACA352148843SCN5Ac.3836A>T (p.Asp1279Val)
c.3839A>T (p.Asp1280Val)
c.3677A>T (p.Asp1226Val)
c.3710A>T (p.Asp1237Val)
3g.38566410T>CCA352148845SCN5Ac.3836A>G (p.Asp1279Gly)
c.3839A>G (p.Asp1280Gly)
c.3677A>G (p.Asp1226Gly)
c.3710A>G (p.Asp1237Gly)
3g.38566410T>GCA352148847SCN5Ac.3836A>C (p.Asp1279Ala)
c.3839A>C (p.Asp1280Ala)
c.3677A>C (p.Asp1226Ala)
c.3710A>C (p.Asp1237Ala)
3g.38566411C>ACA352148853SCN5Ac.3835G>T (p.Asp1279Tyr)
c.3838G>T (p.Asp1280Tyr)
c.3676G>T (p.Asp1226Tyr)
c.3709G>T (p.Asp1237Tyr)
3g.38566411C>GCA352148849SCN5Ac.3835G>C (p.Asp1279His)
c.3838G>C (p.Asp1280His)
c.3676G>C (p.Asp1226His)
c.3709G>C (p.Asp1237His)
 COSMIC COSMIC COSMIC
3g.38566411C>TCA352148851SCN5Ac.3835G>A (p.Asp1279Asn)
c.3838G>A (p.Asp1280Asn)
c.3676G>A (p.Asp1226Asn)
c.3709G>A (p.Asp1237Asn)
3g.38566412T>ACA433136682SCN5Ac.3834A>T (p.Val1278=)
c.3837A>T (p.Val1279=)
c.3675A>T (p.Val1225=)
c.3708A>T (p.Val1236=)
3g.38566412T>CCA72947481SCN5Ac.3834A>G (p.Val1278=)
c.3837A>G (p.Val1279=)
c.3675A>G (p.Val1225=)
c.3708A>G (p.Val1236=)
 dbSNP gnomAD v4
3g.38566412T>GCA433136683SCN5Ac.3834A>C (p.Val1278=)
c.3837A>C (p.Val1279=)
c.3675A>C (p.Val1225=)
c.3708A>C (p.Val1236=)
3g.38566412T=CA1358569424SCN5Ac.3834A= (p.Val1278=)
c.3837A= (p.Val1279=)
c.3675A= (p.Val1225=)
c.3708A= (p.Val1236=)
3g.38566413A>CCA352148854SCN5Ac.3833T>G (p.Val1278Gly)
c.3836T>G (p.Val1279Gly)
c.3674T>G (p.Val1225Gly)
c.3707T>G (p.Val1236Gly)
3g.38566413A>GCA352148855SCN5Ac.3833T>C (p.Val1278Ala)
c.3836T>C (p.Val1279Ala)
c.3674T>C (p.Val1225Ala)
c.3707T>C (p.Val1236Ala)
3g.38566413A>TCA352148857SCN5Ac.3833T>A (p.Val1278Glu)
c.3836T>A (p.Val1279Glu)
c.3674T>A (p.Val1225Glu)
c.3707T>A (p.Val1236Glu)
3g.38566414C>ACA352148858SCN5Ac.3832G>T (p.Val1278Leu)
c.3835G>T (p.Val1279Leu)
c.3673G>T (p.Val1225Leu)
c.3706G>T (p.Val1236Leu)
3g.38566414C=CA1358569429SCN5Ac.3832G= (p.Val1278=)
c.3835G= (p.Val1279=)
c.3673G= (p.Val1225=)
c.3706G= (p.Val1236=)
3g.38566414C>GCA352148860SCN5Ac.3832G>C (p.Val1278Leu)
c.3835G>C (p.Val1279Leu)
c.3673G>C (p.Val1225Leu)
c.3706G>C (p.Val1236Leu)
 gnomAD v4
3g.38566414C>TCA017547SCN5Ac.3832G>A (p.Val1278Ile)
c.3835G>A (p.Val1279Ile)
c.3673G>A (p.Val1225Ile)
c.3706G>A (p.Val1236Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38566415G>ACA062316SCN5Ac.3831C>T (p.Ile1277=)
c.3834C>T (p.Ile1278=)
c.3672C>T (p.Ile1224=)
c.3705C>T (p.Ile1235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566415G>CCA352148862SCN5Ac.3831C>G (p.Ile1277Met)
c.3834C>G (p.Ile1278Met)
c.3672C>G (p.Ile1224Met)
c.3705C>G (p.Ile1235Met)
3g.38566415G=CA1358569436SCN5Ac.3831C= (p.Ile1277=)
c.3834C= (p.Ile1278=)
c.3672C= (p.Ile1224=)
c.3705C= (p.Ile1235=)
3g.38566415G>TCA433136684SCN5Ac.3831C>A (p.Ile1277=)
c.3834C>A (p.Ile1278=)
c.3672C>A (p.Ile1224=)
c.3705C>A (p.Ile1235=)
3g.38566416A=CA1358569441SCN5Ac.3830T= (p.Ile1277=)
c.3833T= (p.Ile1278=)
c.3671T= (p.Ile1224=)
c.3704T= (p.Ile1235=)
3g.38566416A>CCA352148864SCN5Ac.3830T>G (p.Ile1277Ser)
c.3833T>G (p.Ile1278Ser)
c.3671T>G (p.Ile1224Ser)
c.3704T>G (p.Ile1235Ser)
3g.38566416A>GCA352148865SCN5Ac.3830T>C (p.Ile1277Thr)
c.3833T>C (p.Ile1278Thr)
c.3671T>C (p.Ile1224Thr)
c.3704T>C (p.Ile1235Thr)
3g.38566416A>TCA017542SCN5Ac.3830T>A (p.Ile1277Asn)
c.3833T>A (p.Ile1278Asn)
c.3671T>A (p.Ile1224Asn)
c.3704T>A (p.Ile1235Asn)
 ClinVar dbSNP
3g.38566417T>ACA352148869SCN5Ac.3829A>T (p.Ile1277Phe)
c.3832A>T (p.Ile1278Phe)
c.3670A>T (p.Ile1224Phe)
c.3703A>T (p.Ile1235Phe)
 ClinVar gnomAD v4
3g.38566417T>CCA352148868SCN5Ac.3829A>G (p.Ile1277Val)
c.3832A>G (p.Ile1278Val)
c.3670A>G (p.Ile1224Val)
c.3703A>G (p.Ile1235Val)
3g.38566417T>GCA352148867SCN5Ac.3829A>C (p.Ile1277Leu)
c.3832A>C (p.Ile1278Leu)
c.3670A>C (p.Ile1224Leu)
c.3703A>C (p.Ile1235Leu)
3g.38566418G>ACA433136686SCN5Ac.3828C>T (p.Leu1276=)
c.3831C>T (p.Leu1277=)
c.3669C>T (p.Leu1223=)
c.3702C>T (p.Leu1234=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38566418G>CCA433136687SCN5Ac.3828C>G (p.Leu1276=)
c.3831C>G (p.Leu1277=)
c.3669C>G (p.Leu1223=)
c.3702C>G (p.Leu1234=)
3g.38566418G=CA1358569447SCN5Ac.3828C= (p.Leu1276=)
c.3831C= (p.Leu1277=)
c.3669C= (p.Leu1223=)
c.3702C= (p.Leu1234=)
3g.38566418G>TCA433136688SCN5Ac.3828C>A (p.Leu1276=)
c.3831C>A (p.Leu1277=)
c.3669C>A (p.Leu1223=)
c.3702C>A (p.Leu1234=)
3g.38566419A=CA1358569452SCN5Ac.3827T= (p.Leu1276=)
c.3830T= (p.Leu1277=)
c.3668T= (p.Leu1223=)
c.3701T= (p.Leu1234=)
3g.38566419A>CCA352148871SCN5Ac.3827T>G (p.Leu1276Arg)
c.3830T>G (p.Leu1277Arg)
c.3668T>G (p.Leu1223Arg)
c.3701T>G (p.Leu1234Arg)
3g.38566419A>GCA352148875SCN5Ac.3827T>C (p.Leu1276Pro)
c.3830T>C (p.Leu1277Pro)
c.3668T>C (p.Leu1223Pro)
c.3701T>C (p.Leu1234Pro)
 dbSNP
3g.38566419A>TCA352148873SCN5Ac.3827T>A (p.Leu1276His)
c.3830T>A (p.Leu1277His)
c.3668T>A (p.Leu1223His)
c.3701T>A (p.Leu1234His)
3g.38566420G>ACA352148876SCN5Ac.3826C>T (p.Leu1276Phe)
c.3829C>T (p.Leu1277Phe)
c.3667C>T (p.Leu1223Phe)
c.3700C>T (p.Leu1234Phe)
3g.38566420G>CCA352148877SCN5Ac.3826C>G (p.Leu1276Val)
c.3829C>G (p.Leu1277Val)
c.3667C>G (p.Leu1223Val)
c.3700C>G (p.Leu1234Val)
3g.38566420G>TCA352148878SCN5Ac.3826C>A (p.Leu1276Ile)
c.3829C>A (p.Leu1277Ile)
c.3667C>A (p.Leu1223Ile)
c.3700C>A (p.Leu1234Ile)
3g.38566421G>ACA433136691SCN5Ac.3825C>T (p.Phe1275=)
c.3828C>T (p.Phe1276=)
c.3666C>T (p.Phe1222=)
c.3699C>T (p.Phe1233=)
 gnomAD v4
3g.38566421G>CCA352148881SCN5Ac.3825C>G (p.Phe1275Leu)
c.3828C>G (p.Phe1276Leu)
c.3666C>G (p.Phe1222Leu)
c.3699C>G (p.Phe1233Leu)
3g.38566421G>TCA352148882SCN5Ac.3825C>A (p.Phe1275Leu)
c.3828C>A (p.Phe1276Leu)
c.3666C>A (p.Phe1222Leu)
c.3699C>A (p.Phe1233Leu)
3g.38566422A>CCA352148883SCN5Ac.3824T>G (p.Phe1275Cys)
c.3827T>G (p.Phe1276Cys)
c.3665T>G (p.Phe1222Cys)
c.3698T>G (p.Phe1233Cys)
3g.38566422A>GCA352148884SCN5Ac.3824T>C (p.Phe1275Ser)
c.3827T>C (p.Phe1276Ser)
c.3665T>C (p.Phe1222Ser)
c.3698T>C (p.Phe1233Ser)
3g.38566422A>TCA352148886SCN5Ac.3824T>A (p.Phe1275Tyr)
c.3827T>A (p.Phe1276Tyr)
c.3665T>A (p.Phe1222Tyr)
c.3698T>A (p.Phe1233Tyr)
3g.38566423A>CCA352148887SCN5Ac.3823T>G (p.Phe1275Val)
c.3826T>G (p.Phe1276Val)
c.3664T>G (p.Phe1222Val)
c.3697T>G (p.Phe1233Val)
3g.38566423A>GCA352148889SCN5Ac.3823T>C (p.Phe1275Leu)
c.3826T>C (p.Phe1276Leu)
c.3664T>C (p.Phe1222Leu)
c.3697T>C (p.Phe1233Leu)
3g.38566423A>TCA352148891SCN5Ac.3823T>A (p.Phe1275Ile)
c.3826T>A (p.Phe1276Ile)
c.3664T>A (p.Phe1222Ile)
c.3697T>A (p.Phe1233Ile)
3g.38566424G>ACA433136694SCN5Ac.3822C>T (p.Asp1274=)
c.3825C>T (p.Asp1275=)
c.3663C>T (p.Asp1221=)
c.3696C>T (p.Asp1232=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38566424G>CCA352148894SCN5Ac.3822C>G (p.Asp1274Glu)
c.3825C>G (p.Asp1275Glu)
c.3663C>G (p.Asp1221Glu)
c.3696C>G (p.Asp1232Glu)
3g.38566424G=CA1358569455SCN5Ac.3822C= (p.Asp1274=)
c.3825C= (p.Asp1275=)
c.3663C= (p.Asp1221=)
c.3696C= (p.Asp1232=)
3g.38566424G>TCA352148895SCN5Ac.3822C>A (p.Asp1274Glu)
c.3825C>A (p.Asp1275Glu)
c.3663C>A (p.Asp1221Glu)
c.3696C>A (p.Asp1232Glu)
3g.38566425T>ACA352148902SCN5Ac.3821A>T (p.Asp1274Val)
c.3824A>T (p.Asp1275Val)
c.3662A>T (p.Asp1221Val)
c.3695A>T (p.Asp1232Val)
3g.38566425T>CCA352148900SCN5Ac.3821A>G (p.Asp1274Gly)
c.3824A>G (p.Asp1275Gly)
c.3662A>G (p.Asp1221Gly)
c.3695A>G (p.Asp1232Gly)
 ClinVar dbSNP
3g.38566425T>GCA352148898SCN5Ac.3821A>C (p.Asp1274Ala)
c.3824A>C (p.Asp1275Ala)
c.3662A>C (p.Asp1221Ala)
c.3695A>C (p.Asp1232Ala)
3g.38566426C>ACA017536SCN5Ac.3820G>T (p.Asp1274Tyr)
c.3823G>T (p.Asp1275Tyr)
c.3661G>T (p.Asp1221Tyr)
c.3694G>T (p.Asp1232Tyr)
 ClinVar dbSNP
3g.38566426C=CA1358569462SCN5Ac.3820G= (p.Asp1274=)
c.3823G= (p.Asp1275=)
c.3661G= (p.Asp1221=)
c.3694G= (p.Asp1232=)
3g.38566426C>GCA352148906SCN5Ac.3820G>C (p.Asp1274His)
c.3823G>C (p.Asp1275His)
c.3661G>C (p.Asp1221His)
c.3694G>C (p.Asp1232His)
3g.38566426C>TCA017530SCN5Ac.3820G>A (p.Asp1274Asn)
c.3823G>A (p.Asp1275Asn)
c.3661G>A (p.Asp1221Asn)
c.3694G>A (p.Asp1232Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38566427G>ACA062313SCN5Ac.3819C>T (p.Leu1273=)
c.3822C>T (p.Leu1274=)
c.3660C>T (p.Leu1220=)
c.3693C>T (p.Leu1231=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38566427G>CCA433136696SCN5Ac.3819C>G (p.Leu1273=)
c.3822C>G (p.Leu1274=)
c.3660C>G (p.Leu1220=)
c.3693C>G (p.Leu1231=)
3g.38566427G=CA1358569466SCN5Ac.3819C= (p.Leu1273=)
c.3822C= (p.Leu1274=)
c.3660C= (p.Leu1220=)
c.3693C= (p.Leu1231=)
3g.38566427G>TCA433136697SCN5Ac.3819C>A (p.Leu1273=)
c.3822C>A (p.Leu1274=)
c.3660C>A (p.Leu1220=)
c.3693C>A (p.Leu1231=)
3g.38566428A>CCA352148909SCN5Ac.3818T>G (p.Leu1273Arg)
c.3821T>G (p.Leu1274Arg)
c.3659T>G (p.Leu1220Arg)
c.3692T>G (p.Leu1231Arg)
3g.38566428A>GCA352148911SCN5Ac.3818T>C (p.Leu1273Pro)
c.3821T>C (p.Leu1274Pro)
c.3659T>C (p.Leu1220Pro)
c.3692T>C (p.Leu1231Pro)
3g.38566428A>TCA352148913SCN5Ac.3818T>A (p.Leu1273His)
c.3821T>A (p.Leu1274His)
c.3659T>A (p.Leu1220His)
c.3692T>A (p.Leu1231His)
3g.38566429G>ACA352148915SCN5Ac.3817C>T (p.Leu1273Phe)
c.3820C>T (p.Leu1274Phe)
c.3658C>T (p.Leu1220Phe)
c.3691C>T (p.Leu1231Phe)
 ClinVar dbSNP
3g.38566429G>CCA352148916SCN5Ac.3817C>G (p.Leu1273Val)
c.3820C>G (p.Leu1274Val)
c.3658C>G (p.Leu1220Val)
c.3691C>G (p.Leu1231Val)
 gnomAD v4
3g.38566429G=CA1358569469SCN5Ac.3817C= (p.Leu1273=)
c.3820C= (p.Leu1274=)
c.3658C= (p.Leu1220=)
c.3691C= (p.Leu1231=)
3g.38566429G>TCA352148917SCN5Ac.3817C>A (p.Leu1273Ile)
c.3820C>A (p.Leu1274Ile)
c.3658C>A (p.Leu1220Ile)
c.3691C>A (p.Leu1231Ile)
3g.38566430C>ACA062309SCN5Ac.3816G>T (p.Trp1272Cys)
c.3819G>T (p.Trp1273Cys)
c.3657G>T (p.Trp1219Cys)
c.3690G>T (p.Trp1230Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566430C=CA1358569472SCN5Ac.3816G= (p.Trp1272=)
c.3819G= (p.Trp1273=)
c.3657G= (p.Trp1219=)
c.3690G= (p.Trp1230=)
3g.38566430C>GCA352148919SCN5Ac.3816G>C (p.Trp1272Cys)
c.3819G>C (p.Trp1273Cys)
c.3657G>C (p.Trp1219Cys)
c.3690G>C (p.Trp1230Cys)
 gnomAD v4
3g.38566430C>TCA352148921SCN5Ac.3816G>A (p.Trp1272Ter)
c.3819G>A (p.Trp1273Ter)
c.3657G>A (p.Trp1219Ter)
c.3690G>A (p.Trp1230Ter)
 ClinVar dbSNP
3g.38566431C>ACA352148924SCN5Ac.3815G>T (p.Trp1272Leu)
c.3818G>T (p.Trp1273Leu)
c.3656G>T (p.Trp1219Leu)
c.3689G>T (p.Trp1230Leu)
3g.38566431C>GCA352148925SCN5Ac.3815G>C (p.Trp1272Ser)
c.3818G>C (p.Trp1273Ser)
c.3656G>C (p.Trp1219Ser)
c.3689G>C (p.Trp1230Ser)
3g.38566431C>TCA352148923SCN5Ac.3815G>A (p.Trp1272Ter)
c.3818G>A (p.Trp1273Ter)
c.3656G>A (p.Trp1219Ter)
c.3689G>A (p.Trp1230Ter)
3g.38566432A=CA1358569477SCN5Ac.3814T= (p.Trp1272=)
c.3817T= (p.Trp1273=)
c.3655T= (p.Trp1219=)
c.3688T= (p.Trp1230=)
3g.38566432A>CCA352148927SCN5Ac.3814T>G (p.Trp1272Gly)
c.3817T>G (p.Trp1273Gly)
c.3655T>G (p.Trp1219Gly)
c.3688T>G (p.Trp1230Gly)
 ClinVar dbSNP
3g.38566432A>GCA352148928SCN5Ac.3814T>C (p.Trp1272Arg)
c.3817T>C (p.Trp1273Arg)
c.3655T>C (p.Trp1219Arg)
c.3688T>C (p.Trp1230Arg)
3g.38566432A>TCA352148930SCN5Ac.3814T>A (p.Trp1272Arg)
c.3817T>A (p.Trp1273Arg)
c.3655T>A (p.Trp1219Arg)
c.3688T>A (p.Trp1230Arg)
3g.38566433G>ACA433136701SCN5Ac.3813C>T (p.Cys1271=)
c.3816C>T (p.Cys1272=)
c.3654C>T (p.Cys1218=)
c.3687C>T (p.Cys1229=)
3g.38566433G>CCA352148932SCN5Ac.3813C>G (p.Cys1271Trp)
c.3816C>G (p.Cys1272Trp)
c.3654C>G (p.Cys1218Trp)
c.3687C>G (p.Cys1229Trp)
3g.38566433G=CA1358569479SCN5Ac.3813C= (p.Cys1271=)
c.3816C= (p.Cys1272=)
c.3654C= (p.Cys1218=)
c.3687C= (p.Cys1229=)
3g.38566433G>TCA352148934SCN5Ac.3813C>A (p.Cys1271Ter)
c.3816C>A (p.Cys1272Ter)
c.3654C>A (p.Cys1218Ter)
c.3687C>A (p.Cys1229Ter)
 dbSNP
3g.38566434C>ACA352148936SCN5Ac.3812G>T (p.Cys1271Phe)
c.3815G>T (p.Cys1272Phe)
c.3653G>T (p.Cys1218Phe)
c.3686G>T (p.Cys1229Phe)
3g.38566434C>GCA352148938SCN5Ac.3812G>C (p.Cys1271Ser)
c.3815G>C (p.Cys1272Ser)
c.3653G>C (p.Cys1218Ser)
c.3686G>C (p.Cys1229Ser)
3g.38566434C>TCA352148940SCN5Ac.3812G>A (p.Cys1271Tyr)
c.3815G>A (p.Cys1272Tyr)
c.3653G>A (p.Cys1218Tyr)
c.3686G>A (p.Cys1229Tyr)
3g.38566435A>CCA352148942SCN5Ac.3811T>G (p.Cys1271Gly)
c.3814T>G (p.Cys1272Gly)
c.3652T>G (p.Cys1218Gly)
c.3685T>G (p.Cys1229Gly)
3g.38566435A>GCA352148944SCN5Ac.3811T>C (p.Cys1271Arg)
c.3814T>C (p.Cys1272Arg)
c.3652T>C (p.Cys1218Arg)
c.3685T>C (p.Cys1229Arg)
3g.38566435A>TCA352148946SCN5Ac.3811T>A (p.Cys1271Ser)
c.3814T>A (p.Cys1272Ser)
c.3652T>A (p.Cys1218Ser)
c.3685T>A (p.Cys1229Ser)
3g.38566436C>ACA352148951SCN5Ac.3810G>T (p.Trp1270Cys)
c.3813G>T (p.Trp1271Cys)
c.3651G>T (p.Trp1217Cys)
c.3684G>T (p.Trp1228Cys)
3g.38566436C=CA1358569482SCN5Ac.3810G= (p.Trp1270=)
c.3813G= (p.Trp1271=)
c.3651G= (p.Trp1217=)
c.3684G= (p.Trp1228=)
3g.38566436C>GCA017524SCN5Ac.3810G>C (p.Trp1270Cys)
c.3813G>C (p.Trp1271Cys)
c.3651G>C (p.Trp1217Cys)
c.3684G>C (p.Trp1228Cys)
 ClinVar dbSNP gnomAD v4
3g.38566436C>TCA352148948SCN5Ac.3810G>A (p.Trp1270Ter)
c.3813G>A (p.Trp1271Ter)
c.3651G>A (p.Trp1217Ter)
c.3684G>A (p.Trp1228Ter)
 ClinVar dbSNP
3g.38566437C>ACA352148952SCN5Ac.3809G>T (p.Trp1270Leu)
c.3812G>T (p.Trp1271Leu)
c.3650G>T (p.Trp1217Leu)
c.3683G>T (p.Trp1228Leu)
3g.38566437C=CA1358569489SCN5Ac.3809G= (p.Trp1270=)
c.3812G= (p.Trp1271=)
c.3650G= (p.Trp1217=)
c.3683G= (p.Trp1228=)
3g.38566437C>GCA352148954SCN5Ac.3809G>C (p.Trp1270Ser)
c.3812G>C (p.Trp1271Ser)
c.3650G>C (p.Trp1217Ser)
c.3683G>C (p.Trp1228Ser)
3g.38566437C>TCA352148956SCN5Ac.3809G>A (p.Trp1270Ter)
c.3812G>A (p.Trp1271Ter)
c.3650G>A (p.Trp1217Ter)
c.3683G>A (p.Trp1228Ter)
 ClinVar dbSNP
3g.38566438A>CCA352148958SCN5Ac.3808T>G (p.Trp1270Gly)
c.3811T>G (p.Trp1271Gly)
c.3649T>G (p.Trp1217Gly)
c.3682T>G (p.Trp1228Gly)
3g.38566438A>GCA352148960SCN5Ac.3808T>C (p.Trp1270Arg)
c.3811T>C (p.Trp1271Arg)
c.3649T>C (p.Trp1217Arg)
c.3682T>C (p.Trp1228Arg)
3g.38566438A>TCA352148962SCN5Ac.3808T>A (p.Trp1270Arg)
c.3811T>A (p.Trp1271Arg)
c.3649T>A (p.Trp1217Arg)
c.3682T>A (p.Trp1228Arg)
3g.38566439G>ACA017518SCN5Ac.3807C>T (p.Ala1269=)
c.3810C>T (p.Ala1270=)
c.3648C>T (p.Ala1216=)
c.3681C>T (p.Ala1227=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566439G>CCA433136709SCN5Ac.3807C>G (p.Ala1269=)
c.3810C>G (p.Ala1270=)
c.3648C>G (p.Ala1216=)
c.3681C>G (p.Ala1227=)
 COSMIC COSMIC COSMIC
3g.38566439G=CA1358569496SCN5Ac.3807C= (p.Ala1269=)
c.3810C= (p.Ala1270=)
c.3648C= (p.Ala1216=)
c.3681C= (p.Ala1227=)
3g.38566439G>TCA433136710SCN5Ac.3807C>A (p.Ala1269=)
c.3810C>A (p.Ala1270=)
c.3648C>A (p.Ala1216=)
c.3681C>A (p.Ala1227=)
3g.38566440G>ACA352148964SCN5Ac.3806C>T (p.Ala1269Val)
c.3809C>T (p.Ala1270Val)
c.3647C>T (p.Ala1216Val)
c.3680C>T (p.Ala1227Val)
3g.38566440G>CCA352148966SCN5Ac.3806C>G (p.Ala1269Gly)
c.3809C>G (p.Ala1270Gly)
c.3647C>G (p.Ala1216Gly)
c.3680C>G (p.Ala1227Gly)
3g.38566440G>TCA352148968SCN5Ac.3806C>A (p.Ala1269Asp)
c.3809C>A (p.Ala1270Asp)
c.3647C>A (p.Ala1216Asp)
c.3680C>A (p.Ala1227Asp)
3g.38566441C>ACA352148969SCN5Ac.3805G>T (p.Ala1269Ser)
c.3808G>T (p.Ala1270Ser)
c.3646G>T (p.Ala1216Ser)
c.3679G>T (p.Ala1227Ser)
 gnomAD v4
3g.38566441C>GCA352148971SCN5Ac.3805G>C (p.Ala1269Pro)
c.3808G>C (p.Ala1270Pro)
c.3646G>C (p.Ala1216Pro)
c.3679G>C (p.Ala1227Pro)
3g.38566441C>TCA352148973SCN5Ac.3805G>A (p.Ala1269Thr)
c.3808G>A (p.Ala1270Thr)
c.3646G>A (p.Ala1216Thr)
c.3679G>A (p.Ala1227Thr)
3g.38566442A>CCA352148975SCN5Ac.3804T>G (p.Asn1268Lys)
c.3807T>G (p.Asn1269Lys)
c.3645T>G (p.Asn1215Lys)
c.3678T>G (p.Asn1226Lys)
3g.38566442A>GCA433136715SCN5Ac.3804T>C (p.Asn1268=)
c.3807T>C (p.Asn1269=)
c.3645T>C (p.Asn1215=)
c.3678T>C (p.Asn1226=)
 ClinVar gnomAD v4
3g.38566442A>TCA352148977SCN5Ac.3804T>A (p.Asn1268Lys)
c.3807T>A (p.Asn1269Lys)
c.3645T>A (p.Asn1215Lys)
c.3678T>A (p.Asn1226Lys)
 gnomAD v4
3g.38566443T>ACA352148980SCN5Ac.3803A>T (p.Asn1268Ile)
c.3806A>T (p.Asn1269Ile)
c.3644A>T (p.Asn1215Ile)
c.3677A>T (p.Asn1226Ile)
3g.38566443T>CCA062301SCN5Ac.3803A>G (p.Asn1268Ser)
c.3806A>G (p.Asn1269Ser)
c.3644A>G (p.Asn1215Ser)
c.3677A>G (p.Asn1226Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566443T>GCA352148982SCN5Ac.3803A>C (p.Asn1268Thr)
c.3806A>C (p.Asn1269Thr)
c.3644A>C (p.Asn1215Thr)
c.3677A>C (p.Asn1226Thr)
3g.38566443T=CA1358569505SCN5Ac.3803A= (p.Asn1268=)
c.3806A= (p.Asn1269=)
c.3644A= (p.Asn1215=)
c.3677A= (p.Asn1226=)
3g.38566444T>ACA352148984SCN5Ac.3802A>T (p.Asn1268Tyr)
c.3805A>T (p.Asn1269Tyr)
c.3643A>T (p.Asn1215Tyr)
c.3676A>T (p.Asn1226Tyr)
3g.38566444T>CCA352148986SCN5Ac.3802A>G (p.Asn1268Asp)
c.3805A>G (p.Asn1269Asp)
c.3643A>G (p.Asn1215Asp)
c.3676A>G (p.Asn1226Asp)
3g.38566444T>GCA352148988SCN5Ac.3802A>C (p.Asn1268His)
c.3805A>C (p.Asn1269His)
c.3643A>C (p.Asn1215His)
c.3676A>C (p.Asn1226His)
3g.38566445G>ACA433136720SCN5Ac.3801C>T (p.Thr1267=)
c.3804C>T (p.Thr1268=)
c.3642C>T (p.Thr1214=)
c.3675C>T (p.Thr1225=)
3g.38566445G>CCA433136723SCN5Ac.3801C>G (p.Thr1267=)
c.3804C>G (p.Thr1268=)
c.3642C>G (p.Thr1214=)
c.3675C>G (p.Thr1225=)
 COSMIC
3g.38566445G>TCA433136724SCN5Ac.3801C>A (p.Thr1267=)
c.3804C>A (p.Thr1268=)
c.3642C>A (p.Thr1214=)
c.3675C>A (p.Thr1225=)
3g.38566446G>ACA352148990SCN5Ac.3800C>T (p.Thr1267Ile)
c.3803C>T (p.Thr1268Ile)
c.3641C>T (p.Thr1214Ile)
c.3674C>T (p.Thr1225Ile)
3g.38566446G>CCA352148992SCN5Ac.3800C>G (p.Thr1267Ser)
c.3803C>G (p.Thr1268Ser)
c.3641C>G (p.Thr1214Ser)
c.3674C>G (p.Thr1225Ser)
 gnomAD v4
3g.38566446G=CA1358569511SCN5Ac.3800C= (p.Thr1267=)
c.3803C= (p.Thr1268=)
c.3641C= (p.Thr1214=)
c.3674C= (p.Thr1225=)
3g.38566446G>TCA352148993SCN5Ac.3800C>A (p.Thr1267Asn)
c.3803C>A (p.Thr1268Asn)
c.3641C>A (p.Thr1214Asn)
c.3674C>A (p.Thr1225Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.38566447T>ACA352148995SCN5Ac.3799A>T (p.Thr1267Ser)
c.3802A>T (p.Thr1268Ser)
c.3640A>T (p.Thr1214Ser)
c.3673A>T (p.Thr1225Ser)
 dbSNP gnomAD v2
3g.38566447T>CCA352148997SCN5Ac.3799A>G (p.Thr1267Ala)
c.3802A>G (p.Thr1268Ala)
c.3640A>G (p.Thr1214Ala)
c.3673A>G (p.Thr1225Ala)
3g.38566447T>GCA352148999SCN5Ac.3799A>C (p.Thr1267Pro)
c.3802A>C (p.Thr1268Pro)
c.3640A>C (p.Thr1214Pro)
c.3673A>C (p.Thr1225Pro)
3g.38566447T=CA1358569515SCN5Ac.3799A= (p.Thr1267=)
c.3802A= (p.Thr1268=)
c.3640A= (p.Thr1214=)
c.3673A= (p.Thr1225=)
3g.38566448G>ACA062297SCN5Ac.3798C>T (p.Phe1266=)
c.3801C>T (p.Phe1267=)
c.3639C>T (p.Phe1213=)
c.3672C>T (p.Phe1224=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566448G>CCA352149002SCN5Ac.3798C>G (p.Phe1266Leu)
c.3801C>G (p.Phe1267Leu)
c.3639C>G (p.Phe1213Leu)
c.3672C>G (p.Phe1224Leu)
3g.38566448G=CA1358569517SCN5Ac.3798C= (p.Phe1266=)
c.3801C= (p.Phe1267=)
c.3639C= (p.Phe1213=)
c.3672C= (p.Phe1224=)
3g.38566448G>TCA352149003SCN5Ac.3798C>A (p.Phe1266Leu)
c.3801C>A (p.Phe1267Leu)
c.3639C>A (p.Phe1213Leu)
c.3672C>A (p.Phe1224Leu)
3g.38566449A>CCA352149007SCN5Ac.3797T>G (p.Phe1266Cys)
c.3800T>G (p.Phe1267Cys)
c.3638T>G (p.Phe1213Cys)
c.3671T>G (p.Phe1224Cys)
3g.38566449A>GCA352149005SCN5Ac.3797T>C (p.Phe1266Ser)
c.3800T>C (p.Phe1267Ser)
c.3638T>C (p.Phe1213Ser)
c.3671T>C (p.Phe1224Ser)
3g.38566449A>TCA352149006SCN5Ac.3797T>A (p.Phe1266Tyr)
c.3800T>A (p.Phe1267Tyr)
c.3638T>A (p.Phe1213Tyr)
c.3671T>A (p.Phe1224Tyr)
3g.38566450A>CCA352149008SCN5Ac.3796T>G (p.Phe1266Val)
c.3799T>G (p.Phe1267Val)
c.3637T>G (p.Phe1213Val)
c.3670T>G (p.Phe1224Val)
3g.38566450A>GCA352149010SCN5Ac.3796T>C (p.Phe1266Leu)
c.3799T>C (p.Phe1267Leu)
c.3637T>C (p.Phe1213Leu)
c.3670T>C (p.Phe1224Leu)
3g.38566450A>TCA352149012SCN5Ac.3796T>A (p.Phe1266Ile)
c.3799T>A (p.Phe1267Ile)
c.3637T>A (p.Phe1213Ile)
c.3670T>A (p.Phe1224Ile)
3g.38566451G>ACA062289SCN5Ac.3795C>T (p.Tyr1265=)
c.3798C>T (p.Tyr1266=)
c.3636C>T (p.Tyr1212=)
c.3669C>T (p.Tyr1223=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566451G>CCA352149014SCN5Ac.3795C>G (p.Tyr1265Ter)
c.3798C>G (p.Tyr1266Ter)
c.3636C>G (p.Tyr1212Ter)
c.3669C>G (p.Tyr1223Ter)
3g.38566451G=CA1358569520SCN5Ac.3795C= (p.Tyr1265=)
c.3798C= (p.Tyr1266=)
c.3636C= (p.Tyr1212=)
c.3669C= (p.Tyr1223=)
3g.38566451G>TCA352149015SCN5Ac.3795C>A (p.Tyr1265Ter)
c.3798C>A (p.Tyr1266Ter)
c.3636C>A (p.Tyr1212Ter)
c.3669C>A (p.Tyr1223Ter)
3g.38566452T>ACA352149017SCN5Ac.3794A>T (p.Tyr1265Phe)
c.3797A>T (p.Tyr1266Phe)
c.3635A>T (p.Tyr1212Phe)
c.3668A>T (p.Tyr1223Phe)
3g.38566452T>CCA352149019SCN5Ac.3794A>G (p.Tyr1265Cys)
c.3797A>G (p.Tyr1266Cys)
c.3635A>G (p.Tyr1212Cys)
c.3668A>G (p.Tyr1223Cys)
3g.38566452T>GCA352149020SCN5Ac.3794A>C (p.Tyr1265Ser)
c.3797A>C (p.Tyr1266Ser)
c.3635A>C (p.Tyr1212Ser)
c.3668A>C (p.Tyr1223Ser)
3g.38566453A>CCA352149022SCN5Ac.3793T>G (p.Tyr1265Asp)
c.3796T>G (p.Tyr1266Asp)
c.3634T>G (p.Tyr1212Asp)
c.3667T>G (p.Tyr1223Asp)
3g.38566453A>GCA352149023SCN5Ac.3793T>C (p.Tyr1265His)
c.3796T>C (p.Tyr1266His)
c.3634T>C (p.Tyr1212His)
c.3667T>C (p.Tyr1223His)
3g.38566453A>TCA352149024SCN5Ac.3793T>A (p.Tyr1265Asn)
c.3796T>A (p.Tyr1266Asn)
c.3634T>A (p.Tyr1212Asn)
c.3667T>A (p.Tyr1223Asn)
3g.38566454C>ACA352149026SCN5Ac.3792G>T (p.Lys1264Asn)
c.3795G>T (p.Lys1265Asn)
c.3633G>T (p.Lys1211Asn)
c.3666G>T (p.Lys1222Asn)
 ClinVar dbSNP gnomAD v4
3g.38566454C=CA1358569532SCN5Ac.3792G= (p.Lys1264=)
c.3795G= (p.Lys1265=)
c.3633G= (p.Lys1211=)
c.3666G= (p.Lys1222=)
3g.38566454C>GCA352149027SCN5Ac.3792G>C (p.Lys1264Asn)
c.3795G>C (p.Lys1265Asn)
c.3633G>C (p.Lys1211Asn)
c.3666G>C (p.Lys1222Asn)
3g.38566454C>TCA433136735SCN5Ac.3792G>A (p.Lys1264=)
c.3795G>A (p.Lys1265=)
c.3633G>A (p.Lys1211=)
c.3666G>A (p.Lys1222=)
 ClinVar dbSNP gnomAD v4
3g.38566455T>ACA352149029SCN5Ac.3791A>T (p.Lys1264Met)
c.3794A>T (p.Lys1265Met)
c.3632A>T (p.Lys1211Met)
c.3665A>T (p.Lys1222Met)
3g.38566455T>CCA352149031SCN5Ac.3791A>G (p.Lys1264Arg)
c.3794A>G (p.Lys1265Arg)
c.3632A>G (p.Lys1211Arg)
c.3665A>G (p.Lys1222Arg)
3g.38566455T>GCA352149032SCN5Ac.3791A>C (p.Lys1264Thr)
c.3794A>C (p.Lys1265Thr)
c.3632A>C (p.Lys1211Thr)
c.3665A>C (p.Lys1222Thr)
3g.38566456T>ACA352149034SCN5Ac.3790A>T (p.Lys1264Ter)
c.3793A>T (p.Lys1265Ter)
c.3631A>T (p.Lys1211Ter)
c.3664A>T (p.Lys1222Ter)
 dbSNP
3g.38566456T>CCA352149035SCN5Ac.3790A>G (p.Lys1264Glu)
c.3793A>G (p.Lys1265Glu)
c.3631A>G (p.Lys1211Glu)
c.3664A>G (p.Lys1222Glu)
3g.38566456T>GCA352149036SCN5Ac.3790A>C (p.Lys1264Gln)
c.3793A>C (p.Lys1265Gln)
c.3631A>C (p.Lys1211Gln)
c.3664A>C (p.Lys1222Gln)
3g.38566456T=CA1358569538SCN5Ac.3790A= (p.Lys1264=)
c.3793A= (p.Lys1265=)
c.3631A= (p.Lys1211=)
c.3664A= (p.Lys1222=)
3g.38566457C>ACA352149037SCN5Ac.3789G>T (p.Lys1263Asn)
c.3792G>T (p.Lys1264Asn)
c.3630G>T (p.Lys1210Asn)
c.3663G>T (p.Lys1221Asn)
3g.38566457C=CA1358569541SCN5Ac.3789G= (p.Lys1263=)
c.3792G= (p.Lys1264=)
c.3630G= (p.Lys1210=)
c.3663G= (p.Lys1221=)
3g.38566457C>GCA062282SCN5Ac.3789G>C (p.Lys1263Asn)
c.3792G>C (p.Lys1264Asn)
c.3630G>C (p.Lys1210Asn)
c.3663G>C (p.Lys1221Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566457C>TCA433136737SCN5Ac.3789G>A (p.Lys1263=)
c.3792G>A (p.Lys1264=)
c.3630G>A (p.Lys1210=)
c.3663G>A (p.Lys1221=)
 ClinVar gnomAD v4
3g.38566458T>ACA352149039SCN5Ac.3788A>T (p.Lys1263Met)
c.3791A>T (p.Lys1264Met)
c.3629A>T (p.Lys1210Met)
c.3662A>T (p.Lys1221Met)
3g.38566458T>CCA352149041SCN5Ac.3788A>G (p.Lys1263Arg)
c.3791A>G (p.Lys1264Arg)
c.3629A>G (p.Lys1210Arg)
c.3662A>G (p.Lys1221Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38566458T>GCA352149042SCN5Ac.3788A>C (p.Lys1263Thr)
c.3791A>C (p.Lys1264Thr)
c.3629A>C (p.Lys1210Thr)
c.3662A>C (p.Lys1221Thr)
3g.38566458T=CA1358569546SCN5Ac.3788A= (p.Lys1263=)
c.3791A= (p.Lys1264=)
c.3629A= (p.Lys1210=)
c.3662A= (p.Lys1221=)
3g.38566459T>ACA352149044SCN5Ac.3787A>T (p.Lys1263Ter)
c.3790A>T (p.Lys1264Ter)
c.3628A>T (p.Lys1210Ter)
c.3661A>T (p.Lys1221Ter)
 dbSNP
3g.38566459T>CCA352149045SCN5Ac.3787A>G (p.Lys1263Glu)
c.3790A>G (p.Lys1264Glu)
c.3628A>G (p.Lys1210Glu)
c.3661A>G (p.Lys1221Glu)
 gnomAD v4
3g.38566459T>GCA352149047SCN5Ac.3787A>C (p.Lys1263Gln)
c.3790A>C (p.Lys1264Gln)
c.3628A>C (p.Lys1210Gln)
c.3661A>C (p.Lys1221Gln)
3g.38566459T=CA1358569550SCN5Ac.3787A= (p.Lys1263=)
c.3790A= (p.Lys1264=)
c.3628A= (p.Lys1210=)
c.3661A= (p.Lys1221=)
3g.38566460G>ACA433136742SCN5Ac.3786C>T (p.Phe1262=)
c.3789C>T (p.Phe1263=)
c.3627C>T (p.Phe1209=)
c.3660C>T (p.Phe1220=)
3g.38566460G>CCA352149049SCN5Ac.3786C>G (p.Phe1262Leu)
c.3789C>G (p.Phe1263Leu)
c.3627C>G (p.Phe1209Leu)
c.3660C>G (p.Phe1220Leu)
3g.38566460G>TCA352149051SCN5Ac.3786C>A (p.Phe1262Leu)
c.3789C>A (p.Phe1263Leu)
c.3627C>A (p.Phe1209Leu)
c.3660C>A (p.Phe1220Leu)
3g.38566461A=CA1358569553SCN5Ac.3785T= (p.Phe1262=)
c.3788T= (p.Phe1263=)
c.3626T= (p.Phe1209=)
c.3659T= (p.Phe1220=)
3g.38566461A>CCA352149054SCN5Ac.3785T>G (p.Phe1262Cys)
c.3788T>G (p.Phe1263Cys)
c.3626T>G (p.Phe1209Cys)
c.3659T>G (p.Phe1220Cys)
3g.38566461A>GCA352149055SCN5Ac.3785T>C (p.Phe1262Ser)
c.3788T>C (p.Phe1263Ser)
c.3626T>C (p.Phe1209Ser)
c.3659T>C (p.Phe1220Ser)
 dbSNP
3g.38566461A>TCA352149057SCN5Ac.3785T>A (p.Phe1262Tyr)
c.3788T>A (p.Phe1263Tyr)
c.3626T>A (p.Phe1209Tyr)
c.3659T>A (p.Phe1220Tyr)
3g.38566462A>CCA352149058SCN5Ac.3784T>G (p.Phe1262Val)
c.3787T>G (p.Phe1263Val)
c.3625T>G (p.Phe1209Val)
c.3658T>G (p.Phe1220Val)
3g.38566462A>GCA352149059SCN5Ac.3784T>C (p.Phe1262Leu)
c.3787T>C (p.Phe1263Leu)
c.3625T>C (p.Phe1209Leu)
c.3658T>C (p.Phe1220Leu)
3g.38566462A>TCA352149061SCN5Ac.3784T>A (p.Phe1262Ile)
c.3787T>A (p.Phe1263Ile)
c.3625T>A (p.Phe1209Ile)
c.3658T>A (p.Phe1220Ile)
3g.38566463G>ACA433136744SCN5Ac.3783C>T (p.Gly1261=)
c.3786C>T (p.Gly1262=)
c.3624C>T (p.Gly1208=)
c.3657C>T (p.Gly1219=)
 COSMIC COSMIC COSMIC
3g.38566463G>CCA433136747SCN5Ac.3783C>G (p.Gly1261=)
c.3786C>G (p.Gly1262=)
c.3624C>G (p.Gly1208=)
c.3657C>G (p.Gly1219=)
3g.38566463G>TCA433136746SCN5Ac.3783C>A (p.Gly1261=)
c.3786C>A (p.Gly1262=)
c.3624C>A (p.Gly1208=)
c.3657C>A (p.Gly1219=)
3g.38566464C>ACA352149063SCN5Ac.3782G>T (p.Gly1261Val)
c.3785G>T (p.Gly1262Val)
c.3623G>T (p.Gly1208Val)
c.3656G>T (p.Gly1219Val)
3g.38566464C=CA1358569556SCN5Ac.3782G= (p.Gly1261=)
c.3785G= (p.Gly1262=)
c.3623G= (p.Gly1208=)
c.3656G= (p.Gly1219=)
3g.38566464C>GCA352149065SCN5Ac.3782G>C (p.Gly1261Ala)
c.3785G>C (p.Gly1262Ala)
c.3623G>C (p.Gly1208Ala)
c.3656G>C (p.Gly1219Ala)
3g.38566464C>TCA352149066SCN5Ac.3782G>A (p.Gly1261Asp)
c.3785G>A (p.Gly1262Asp)
c.3623G>A (p.Gly1208Asp)
c.3656G>A (p.Gly1219Asp)
 dbSNP
3g.38566465C>ACA352149068SCN5Ac.3781G>T (p.Gly1261Cys)
c.3784G>T (p.Gly1262Cys)
c.3622G>T (p.Gly1208Cys)
c.3655G>T (p.Gly1219Cys)
 ClinVar dbSNP
3g.38566465C=CA1358569561SCN5Ac.3781G= (p.Gly1261=)
c.3784G= (p.Gly1262=)
c.3622G= (p.Gly1208=)
c.3655G= (p.Gly1219=)
3g.38566465C>GCA352149069SCN5Ac.3781G>C (p.Gly1261Arg)
c.3784G>C (p.Gly1262Arg)
c.3622G>C (p.Gly1208Arg)
c.3655G>C (p.Gly1219Arg)
3g.38566465C>TCA017513SCN5Ac.3781G>A (p.Gly1261Ser)
c.3784G>A (p.Gly1262Ser)
c.3622G>A (p.Gly1208Ser)
c.3655G>A (p.Gly1219Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566466G>ACA062271SCN5Ac.3780C>T (p.Tyr1260=)
c.3783C>T (p.Tyr1261=)
c.3621C>T (p.Tyr1207=)
c.3654C>T (p.Tyr1218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38566466G>CCA352149074SCN5Ac.3780C>G (p.Tyr1260Ter)
c.3783C>G (p.Tyr1261Ter)
c.3621C>G (p.Tyr1207Ter)
c.3654C>G (p.Tyr1218Ter)
3g.38566466G=CA1358569564SCN5Ac.3780C= (p.Tyr1260=)
c.3783C= (p.Tyr1261=)
c.3621C= (p.Tyr1207=)
c.3654C= (p.Tyr1218=)
3g.38566466G>TCA352149072SCN5Ac.3780C>A (p.Tyr1260Ter)
c.3783C>A (p.Tyr1261Ter)
c.3621C>A (p.Tyr1207Ter)
c.3654C>A (p.Tyr1218Ter)
3g.38566467T>ACA352149076SCN5Ac.3779A>T (p.Tyr1260Phe)
c.3782A>T (p.Tyr1261Phe)
c.3620A>T (p.Tyr1207Phe)
c.3653A>T (p.Tyr1218Phe)
3g.38566467T>CCA352149079SCN5Ac.3779A>G (p.Tyr1260Cys)
c.3782A>G (p.Tyr1261Cys)
c.3620A>G (p.Tyr1207Cys)
c.3653A>G (p.Tyr1218Cys)
 gnomAD v4
3g.38566467T>GCA352149077SCN5Ac.3779A>C (p.Tyr1260Ser)
c.3782A>C (p.Tyr1261Ser)
c.3620A>C (p.Tyr1207Ser)
c.3653A>C (p.Tyr1218Ser)
3g.38566468A>CCA352149081SCN5Ac.3778T>G (p.Tyr1260Asp)
c.3781T>G (p.Tyr1261Asp)
c.3619T>G (p.Tyr1207Asp)
c.3652T>G (p.Tyr1218Asp)
 gnomAD v4
3g.38566468A>GCA352149084SCN5Ac.3778T>C (p.Tyr1260His)
c.3781T>C (p.Tyr1261His)
c.3619T>C (p.Tyr1207His)
c.3652T>C (p.Tyr1218His)
3g.38566468A>TCA352149083SCN5Ac.3778T>A (p.Tyr1260Asn)
c.3781T>A (p.Tyr1261Asn)
c.3619T>A (p.Tyr1207Asn)
c.3652T>A (p.Tyr1218Asn)
3g.38566469G>ACA433136756SCN5Ac.3777C>T (p.Ala1259=)
c.3780C>T (p.Ala1260=)
c.3618C>T (p.Ala1206=)
c.3651C>T (p.Ala1217=)
3g.38566469G>CCA433136758SCN5Ac.3777C>G (p.Ala1259=)
c.3780C>G (p.Ala1260=)
c.3618C>G (p.Ala1206=)
c.3651C>G (p.Ala1217=)
3g.38566469G>TCA433136760SCN5Ac.3777C>A (p.Ala1259=)
c.3780C>A (p.Ala1260=)
c.3618C>A (p.Ala1206=)
c.3651C>A (p.Ala1217=)
3g.38566470G>ACA352149087SCN5Ac.3776C>T (p.Ala1259Val)
c.3779C>T (p.Ala1260Val)
c.3617C>T (p.Ala1206Val)
c.3650C>T (p.Ala1217Val)
3g.38566470G>CCA352149088SCN5Ac.3776C>G (p.Ala1259Gly)
c.3779C>G (p.Ala1260Gly)
c.3617C>G (p.Ala1206Gly)
c.3650C>G (p.Ala1217Gly)
3g.38566470G=CA1358569570SCN5Ac.3776C= (p.Ala1259=)
c.3779C= (p.Ala1260=)
c.3617C= (p.Ala1206=)
c.3650C= (p.Ala1217=)
3g.38566470G>TCA72947520SCN5Ac.3776C>A (p.Ala1259Asp)
c.3779C>A (p.Ala1260Asp)
c.3617C>A (p.Ala1206Asp)
c.3650C>A (p.Ala1217Asp)
 dbSNP
3g.38566471C>ACA352149090SCN5Ac.3775G>T (p.Ala1259Ser)
c.3778G>T (p.Ala1260Ser)
c.3616G>T (p.Ala1206Ser)
c.3649G>T (p.Ala1217Ser)
 ClinVar dbSNP
3g.38566471C>GCA352149093SCN5Ac.3775G>C (p.Ala1259Pro)
c.3778G>C (p.Ala1260Pro)
c.3616G>C (p.Ala1206Pro)
c.3649G>C (p.Ala1217Pro)
3g.38566471C>TCA352149092SCN5Ac.3775G>A (p.Ala1259Thr)
c.3778G>A (p.Ala1260Thr)
c.3616G>A (p.Ala1206Thr)
c.3649G>A (p.Ala1217Thr)
3g.38566472C>ACA433136761SCN5Ac.3774G>T (p.Val1258=)
c.3777G>T (p.Val1259=)
c.3615G>T (p.Val1205=)
c.3648G>T (p.Val1216=)
3g.38566472C>GCA433136762SCN5Ac.3774G>C (p.Val1258=)
c.3777G>C (p.Val1259=)
c.3615G>C (p.Val1205=)
c.3648G>C (p.Val1216=)
3g.38566472C>TCA433136763SCN5Ac.3774G>A (p.Val1258=)
c.3777G>A (p.Val1259=)
c.3615G>A (p.Val1205=)
c.3648G>A (p.Val1216=)
3g.38566473A>CCA352149096SCN5Ac.3773T>G (p.Val1258Gly)
c.3776T>G (p.Val1259Gly)
c.3614T>G (p.Val1205Gly)
c.3647T>G (p.Val1216Gly)
3g.38566473A>GCA352149099SCN5Ac.3773T>C (p.Val1258Ala)
c.3776T>C (p.Val1259Ala)
c.3614T>C (p.Val1205Ala)
c.3647T>C (p.Val1216Ala)
3g.38566473A>TCA352149097SCN5Ac.3773T>A (p.Val1258Glu)
c.3776T>A (p.Val1259Glu)
c.3614T>A (p.Val1205Glu)
c.3647T>A (p.Val1216Glu)
3g.38566474C>ACA352149102SCN5Ac.3772G>T (p.Val1258Leu)
c.3775G>T (p.Val1259Leu)
c.3613G>T (p.Val1205Leu)
c.3646G>T (p.Val1216Leu)
3g.38566474C>GCA352149103SCN5Ac.3772G>C (p.Val1258Leu)
c.3775G>C (p.Val1259Leu)
c.3613G>C (p.Val1205Leu)
c.3646G>C (p.Val1216Leu)
3g.38566474C>TCA352149104SCN5Ac.3772G>A (p.Val1258Met)
c.3775G>A (p.Val1259Met)
c.3613G>A (p.Val1205Met)
c.3646G>A (p.Val1216Met)
3g.38566475C>ACA352149106SCN5Ac.3771G>T (p.Trp1257Cys)
c.3774G>T (p.Trp1258Cys)
c.3612G>T (p.Trp1204Cys)
c.3645G>T (p.Trp1215Cys)
 COSMIC COSMIC COSMIC
3g.38566475C=CA1358569574SCN5Ac.3771G= (p.Trp1257=)
c.3774G= (p.Trp1258=)
c.3612G= (p.Trp1204=)
c.3645G= (p.Trp1215=)
3g.38566475C>GCA352149108SCN5Ac.3771G>C (p.Trp1257Cys)
c.3774G>C (p.Trp1258Cys)
c.3612G>C (p.Trp1204Cys)
c.3645G>C (p.Trp1215Cys)
3g.38566475C>TCA352149110SCN5Ac.3771G>A (p.Trp1257Ter)
c.3774G>A (p.Trp1258Ter)
c.3612G>A (p.Trp1204Ter)
c.3645G>A (p.Trp1215Ter)
 dbSNP COSMIC COSMIC COSMIC
3g.38566476C>ACA352149115SCN5Ac.3770G>T (p.Trp1257Leu)
c.3773G>T (p.Trp1258Leu)
c.3611G>T (p.Trp1204Leu)
c.3644G>T (p.Trp1215Leu)
3g.38566476C>GCA352149113SCN5Ac.3770G>C (p.Trp1257Ser)
c.3773G>C (p.Trp1258Ser)
c.3611G>C (p.Trp1204Ser)
c.3644G>C (p.Trp1215Ser)
 gnomAD v4
3g.38566476C>TCA352149114SCN5Ac.3770G>A (p.Trp1257Ter)
c.3773G>A (p.Trp1258Ter)
c.3611G>A (p.Trp1204Ter)
c.3644G>A (p.Trp1215Ter)
3g.38566477A>CCA352149117SCN5Ac.3769T>G (p.Trp1257Gly)
c.3772T>G (p.Trp1258Gly)
c.3610T>G (p.Trp1204Gly)
c.3643T>G (p.Trp1215Gly)
3g.38566477A>GCA352149119SCN5Ac.3769T>C (p.Trp1257Arg)
c.3772T>C (p.Trp1258Arg)
c.3610T>C (p.Trp1204Arg)
c.3643T>C (p.Trp1215Arg)
3g.38566477A>TCA352149120SCN5Ac.3769T>A (p.Trp1257Arg)
c.3772T>A (p.Trp1258Arg)
c.3610T>A (p.Trp1204Arg)
c.3643T>A (p.Trp1215Arg)
 gnomAD v4
3g.38566478C>ACA352149123SCN5Ac.3768G>T (p.Lys1256Asn)
c.3771G>T (p.Lys1257Asn)
c.3609G>T (p.Lys1203Asn)
c.3642G>T (p.Lys1214Asn)
3g.38566478C>GCA352149125SCN5Ac.3768G>C (p.Lys1256Asn)
c.3771G>C (p.Lys1257Asn)
c.3609G>C (p.Lys1203Asn)
c.3642G>C (p.Lys1214Asn)
3g.38566478C>TCA433136767SCN5Ac.3768G>A (p.Lys1256=)
c.3771G>A (p.Lys1257=)
c.3609G>A (p.Lys1203=)
c.3642G>A (p.Lys1214=)
 gnomAD v4
3g.38566479T>ACA352149128SCN5Ac.3767A>T (p.Lys1256Met)
c.3770A>T (p.Lys1257Met)
c.3608A>T (p.Lys1203Met)
c.3641A>T (p.Lys1214Met)
3g.38566479T>CCA352149131SCN5Ac.3767A>G (p.Lys1256Arg)
c.3770A>G (p.Lys1257Arg)
c.3608A>G (p.Lys1203Arg)
c.3641A>G (p.Lys1214Arg)
3g.38566479T>GCA352149129SCN5Ac.3767A>C (p.Lys1256Thr)
c.3770A>C (p.Lys1257Thr)
c.3608A>C (p.Lys1203Thr)
c.3641A>C (p.Lys1214Thr)
3g.38566480T>ACA352149134SCN5Ac.3766A>T (p.Lys1256Ter)
c.3769A>T (p.Lys1257Ter)
c.3607A>T (p.Lys1203Ter)
c.3640A>T (p.Lys1214Ter)
 dbSNP
3g.38566480T>CCA352149135SCN5Ac.3766A>G (p.Lys1256Glu)
c.3769A>G (p.Lys1257Glu)
c.3607A>G (p.Lys1203Glu)
c.3640A>G (p.Lys1214Glu)
3g.38566480T>GCA352149137SCN5Ac.3766A>C (p.Lys1256Gln)
c.3769A>C (p.Lys1257Gln)
c.3607A>C (p.Lys1203Gln)
c.3640A>C (p.Lys1214Gln)
 gnomAD v4
3g.38566480T=CA1358569578SCN5Ac.3766A= (p.Lys1256=)
c.3769A= (p.Lys1257=)
c.3607A= (p.Lys1203=)
c.3640A= (p.Lys1214=)
3g.38566481G>ACA433136773SCN5Ac.3765C>T (p.Leu1255=)
c.3768C>T (p.Leu1256=)
c.3606C>T (p.Leu1202=)
c.3639C>T (p.Leu1213=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38566481G>CCA433136774SCN5Ac.3765C>G (p.Leu1255=)
c.3768C>G (p.Leu1256=)
c.3606C>G (p.Leu1202=)
c.3639C>G (p.Leu1213=)
3g.38566481G=CA1358569584SCN5Ac.3765C= (p.Leu1255=)
c.3768C= (p.Leu1256=)
c.3606C= (p.Leu1202=)
c.3639C= (p.Leu1213=)
3g.38566481G>TCA062265SCN5Ac.3765C>A (p.Leu1255=)
c.3768C>A (p.Leu1256=)
c.3606C>A (p.Leu1202=)
c.3639C>A (p.Leu1213=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566482A>CCA352149140SCN5Ac.3764T>G (p.Leu1255Arg)
c.3767T>G (p.Leu1256Arg)
c.3605T>G (p.Leu1202Arg)
c.3638T>G (p.Leu1213Arg)
3g.38566482A>GCA352149142SCN5Ac.3764T>C (p.Leu1255Pro)
c.3767T>C (p.Leu1256Pro)
c.3605T>C (p.Leu1202Pro)
c.3638T>C (p.Leu1213Pro)
 gnomAD v4
3g.38566482A>TCA352149144SCN5Ac.3764T>A (p.Leu1255His)
c.3767T>A (p.Leu1256His)
c.3605T>A (p.Leu1202His)
c.3638T>A (p.Leu1213His)
3g.38566483G>ACA352149146SCN5Ac.3763C>T (p.Leu1255Phe)
c.3766C>T (p.Leu1256Phe)
c.3604C>T (p.Leu1202Phe)
c.3637C>T (p.Leu1213Phe)
 gnomAD v4
3g.38566483G>CCA352149148SCN5Ac.3763C>G (p.Leu1255Val)
c.3766C>G (p.Leu1256Val)
c.3604C>G (p.Leu1202Val)
c.3637C>G (p.Leu1213Val)
3g.38566483G>TCA352149150SCN5Ac.3763C>A (p.Leu1255Ile)
c.3766C>A (p.Leu1256Ile)
c.3604C>A (p.Leu1202Ile)
c.3637C>A (p.Leu1213Ile)
3g.38566484delCA2499216737SCN5Ac.3762del (p.Leu1255SerfsTer24)
c.3765del (p.Leu1256SerfsTer24)
c.3603del (p.Leu1202SerfsTer24)
c.3636del (p.Leu1213SerfsTer24)
 ClinVar dbSNP
3g.38566484C>ACA433136783SCN5Ac.3762G>T (p.Leu1254=)
c.3765G>T (p.Leu1255=)
c.3603G>T (p.Leu1201=)
c.3636G>T (p.Leu1212=)
3g.38566484C=CA1358569590SCN5Ac.3762G= (p.Leu1254=)
c.3765G= (p.Leu1255=)
c.3603G= (p.Leu1201=)
c.3636G= (p.Leu1212=)
3g.38566484C>GCA433136782SCN5Ac.3762G>C (p.Leu1254=)
c.3765G>C (p.Leu1255=)
c.3603G>C (p.Leu1201=)
c.3636G>C (p.Leu1212=)
3g.38566484C>TCA433136779SCN5Ac.3762G>A (p.Leu1254=)
c.3765G>A (p.Leu1255=)
c.3603G>A (p.Leu1201=)
c.3636G>A (p.Leu1212=)
 dbSNP
3g.38566485A>CCA352149153SCN5Ac.3761T>G (p.Leu1254Arg)
c.3764T>G (p.Leu1255Arg)
c.3602T>G (p.Leu1201Arg)
c.3635T>G (p.Leu1212Arg)
3g.38566485A>GCA352149156SCN5Ac.3761T>C (p.Leu1254Pro)
c.3764T>C (p.Leu1255Pro)
c.3602T>C (p.Leu1201Pro)
c.3635T>C (p.Leu1212Pro)
 gnomAD v4
3g.38566485A>TCA352149155SCN5Ac.3761T>A (p.Leu1254Gln)
c.3764T>A (p.Leu1255Gln)
c.3602T>A (p.Leu1201Gln)
c.3635T>A (p.Leu1212Gln)
3g.38566486G>ACA433136786SCN5Ac.3760C>T (p.Leu1254=)
c.3763C>T (p.Leu1255=)
c.3601C>T (p.Leu1201=)
c.3634C>T (p.Leu1212=)
3g.38566486G>CCA352149158SCN5Ac.3760C>G (p.Leu1254Val)
c.3763C>G (p.Leu1255Val)
c.3601C>G (p.Leu1201Val)
c.3634C>G (p.Leu1212Val)
3g.38566486G=CA1358569595SCN5Ac.3760C= (p.Leu1254=)
c.3763C= (p.Leu1255=)
c.3601C= (p.Leu1201=)
c.3634C= (p.Leu1212=)
3g.38566486G>TCA062259SCN5Ac.3760C>A (p.Leu1254Met)
c.3763C>A (p.Leu1255Met)
c.3601C>A (p.Leu1201Met)
c.3634C>A (p.Leu1212Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566487C>ACA352149162SCN5Ac.3759G>T (p.Met1253Ile)
c.3762G>T (p.Met1254Ile)
c.3600G>T (p.Met1200Ile)
c.3633G>T (p.Met1211Ile)
3g.38566487C>GCA352149163SCN5Ac.3759G>C (p.Met1253Ile)
c.3762G>C (p.Met1254Ile)
c.3600G>C (p.Met1200Ile)
c.3633G>C (p.Met1211Ile)
3g.38566487C>TCA352149164SCN5Ac.3759G>A (p.Met1253Ile)
c.3762G>A (p.Met1254Ile)
c.3600G>A (p.Met1200Ile)
c.3633G>A (p.Met1211Ile)
3g.38566488delCA2499216738SCN5Ac.3758del (p.Met1253SerfsTer26)
c.3761del (p.Met1254SerfsTer26)
c.3599del (p.Met1200SerfsTer26)
c.3632del (p.Met1211SerfsTer26)
 ClinVar dbSNP
3g.38566488A=CA1358569599SCN5Ac.3758T= (p.Met1253=)
c.3761T= (p.Met1254=)
c.3599T= (p.Met1200=)
c.3632T= (p.Met1211=)
3g.38566488A>CCA352149165SCN5Ac.3758T>G (p.Met1253Arg)
c.3761T>G (p.Met1254Arg)
c.3599T>G (p.Met1200Arg)
c.3632T>G (p.Met1211Arg)
3g.38566488A>GCA352149166SCN5Ac.3758T>C (p.Met1253Thr)
c.3761T>C (p.Met1254Thr)
c.3599T>C (p.Met1200Thr)
c.3632T>C (p.Met1211Thr)
3g.38566488A>TCA352149167SCN5Ac.3758T>A (p.Met1253Lys)
c.3761T>A (p.Met1254Lys)
c.3599T>A (p.Met1200Lys)
c.3632T>A (p.Met1211Lys)
 ClinVar dbSNP
3g.38566489T>ACA352149168SCN5Ac.3757A>T (p.Met1253Leu)
c.3760A>T (p.Met1254Leu)
c.3598A>T (p.Met1200Leu)
c.3631A>T (p.Met1211Leu)
3g.38566489T>CCA352149169SCN5Ac.3757A>G (p.Met1253Val)
c.3760A>G (p.Met1254Val)
c.3598A>G (p.Met1200Val)
c.3631A>G (p.Met1211Val)
3g.38566489T>GCA352149170SCN5Ac.3757A>C (p.Met1253Leu)
c.3760A>C (p.Met1254Leu)
c.3598A>C (p.Met1200Leu)
c.3631A>C (p.Met1211Leu)
3g.38566490C>ACA352149172SCN5Ac.3756G>T (p.Glu1252Asp)
c.3759G>T (p.Glu1253Asp)
c.3597G>T (p.Glu1199Asp)
c.3630G>T (p.Glu1210Asp)
3g.38566490C>GCA352149171SCN5Ac.3756G>C (p.Glu1252Asp)
c.3759G>C (p.Glu1253Asp)
c.3597G>C (p.Glu1199Asp)
c.3630G>C (p.Glu1210Asp)
3g.38566490C>TCA433136794SCN5Ac.3756G>A (p.Glu1252=)
c.3759G>A (p.Glu1253=)
c.3597G>A (p.Glu1199=)
c.3630G>A (p.Glu1210=)
3g.38566491T>ACA352149173SCN5Ac.3755A>T (p.Glu1252Val)
c.3758A>T (p.Glu1253Val)
c.3596A>T (p.Glu1199Val)
c.3629A>T (p.Glu1210Val)
3g.38566491T>CCA017500SCN5Ac.3755A>G (p.Glu1252Gly)
c.3758A>G (p.Glu1253Gly)
c.3596A>G (p.Glu1199Gly)
c.3629A>G (p.Glu1210Gly)
 ClinVar dbSNP
3g.38566491T>GCA352149174SCN5Ac.3755A>C (p.Glu1252Ala)
c.3758A>C (p.Glu1253Ala)
c.3596A>C (p.Glu1199Ala)
c.3629A>C (p.Glu1210Ala)
3g.38566491T=CA1358569603SCN5Ac.3755A= (p.Glu1252=)
c.3758A= (p.Glu1253=)
c.3596A= (p.Glu1199=)
c.3629A= (p.Glu1210=)
3g.38566492C>ACA352149175SCN5Ac.3754G>T (p.Glu1252Ter)
c.3757G>T (p.Glu1253Ter)
c.3595G>T (p.Glu1199Ter)
c.3628G>T (p.Glu1210Ter)
 dbSNP
3g.38566492C=CA1358569606SCN5Ac.3754G= (p.Glu1252=)
c.3757G= (p.Glu1253=)
c.3595G= (p.Glu1199=)
c.3628G= (p.Glu1210=)
3g.38566492C>GCA352149176SCN5Ac.3754G>C (p.Glu1252Gln)
c.3757G>C (p.Glu1253Gln)
c.3595G>C (p.Glu1199Gln)
c.3628G>C (p.Glu1210Gln)
3g.38566492C>TCA352149177SCN5Ac.3754G>A (p.Glu1252Lys)
c.3757G>A (p.Glu1253Lys)
c.3595G>A (p.Glu1199Lys)
c.3628G>A (p.Glu1210Lys)
 COSMIC COSMIC COSMIC
3g.38566493C>ACA433136801SCN5Ac.3753G>T (p.Leu1251=)
c.3756G>T (p.Leu1252=)
c.3594G>T (p.Leu1198=)
c.3627G>T (p.Leu1209=)
3g.38566493C=CA1358569609SCN5Ac.3753G= (p.Leu1251=)
c.3756G= (p.Leu1252=)
c.3594G= (p.Leu1198=)
c.3627G= (p.Leu1209=)
3g.38566493C>GCA433136803SCN5Ac.3753G>C (p.Leu1251=)
c.3756G>C (p.Leu1252=)
c.3594G>C (p.Leu1198=)
c.3627G>C (p.Leu1209=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38566493C>TCA433136804SCN5Ac.3753G>A (p.Leu1251=)
c.3756G>A (p.Leu1252=)
c.3594G>A (p.Leu1198=)
c.3627G>A (p.Leu1209=)
3g.38566494A>CCA352149178SCN5Ac.3752T>G (p.Leu1251Arg)
c.3755T>G (p.Leu1252Arg)
c.3593T>G (p.Leu1198Arg)
c.3626T>G (p.Leu1209Arg)
3g.38566494A>GCA352149179SCN5Ac.3752T>C (p.Leu1251Pro)
c.3755T>C (p.Leu1252Pro)
c.3593T>C (p.Leu1198Pro)
c.3626T>C (p.Leu1209Pro)
3g.38566494A>TCA352149180SCN5Ac.3752T>A (p.Leu1251Gln)
c.3755T>A (p.Leu1252Gln)
c.3593T>A (p.Leu1198Gln)
c.3626T>A (p.Leu1209Gln)
3g.38566495G>ACA433136806SCN5Ac.3751C>T (p.Leu1251=)
c.3754C>T (p.Leu1252=)
c.3592C>T (p.Leu1198=)
c.3625C>T (p.Leu1209=)
 ClinVar dbSNP
3g.38566495G>CCA352149181SCN5Ac.3751C>G (p.Leu1251Val)
c.3754C>G (p.Leu1252Val)
c.3592C>G (p.Leu1198Val)
c.3625C>G (p.Leu1209Val)
3g.38566495G=CA1358569617SCN5Ac.3751C= (p.Leu1251=)
c.3754C= (p.Leu1252=)
c.3592C= (p.Leu1198=)
c.3625C= (p.Leu1209=)
3g.38566495G>TCA352149182SCN5Ac.3751C>A (p.Leu1251Met)
c.3754C>A (p.Leu1252Met)
c.3592C>A (p.Leu1198Met)
c.3625C>A (p.Leu1209Met)
3g.38566496delCA2665111942SCN5Ac.3750del (p.Leu1251TrpfsTer28)
c.3753del (p.Leu1252TrpfsTer28)
c.3591del (p.Leu1198TrpfsTer28)
c.3624del (p.Leu1209TrpfsTer28)
 gnomAD v4
3g.38566496C>ACA433136809SCN5Ac.3750G>T (p.Val1250=)
c.3753G>T (p.Val1251=)
c.3591G>T (p.Val1197=)
c.3624G>T (p.Val1208=)
3g.38566496C>GCA433136811SCN5Ac.3750G>C (p.Val1250=)
c.3753G>C (p.Val1251=)
c.3591G>C (p.Val1197=)
c.3624G>C (p.Val1208=)
3g.38566496C>TCA433136810SCN5Ac.3750G>A (p.Val1250=)
c.3753G>A (p.Val1251=)
c.3591G>A (p.Val1197=)
c.3624G>A (p.Val1208=)
3g.38566497A>CCA352149184SCN5Ac.3749T>G (p.Val1250Gly)
c.3752T>G (p.Val1251Gly)
c.3590T>G (p.Val1197Gly)
c.3623T>G (p.Val1208Gly)
3g.38566497A>GCA352149185SCN5Ac.3749T>C (p.Val1250Ala)
c.3752T>C (p.Val1251Ala)
c.3590T>C (p.Val1197Ala)
c.3623T>C (p.Val1208Ala)
 gnomAD v4
3g.38566497A>TCA352149183SCN5Ac.3749T>A (p.Val1250Glu)
c.3752T>A (p.Val1251Glu)
c.3590T>A (p.Val1197Glu)
c.3623T>A (p.Val1208Glu)
3g.38566498C>ACA352149186SCN5Ac.3748G>T (p.Val1250Leu)
c.3751G>T (p.Val1251Leu)
c.3589G>T (p.Val1197Leu)
c.3622G>T (p.Val1208Leu)
 gnomAD v4
3g.38566498C=CA1358569624SCN5Ac.3748G= (p.Val1250=)
c.3751G= (p.Val1251=)
c.3589G= (p.Val1197=)
c.3622G= (p.Val1208=)
3g.38566498C>GCA352149187SCN5Ac.3748G>C (p.Val1250Leu)
c.3751G>C (p.Val1251Leu)
c.3589G>C (p.Val1197Leu)
c.3622G>C (p.Val1208Leu)
3g.38566498C>TCA017494SCN5Ac.3748G>A (p.Val1250Met)
c.3751G>A (p.Val1251Met)
c.3589G>A (p.Val1197Met)
c.3622G>A (p.Val1208Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38566499G>ACA062251SCN5Ac.3747C>T (p.Phe1249=)
c.3750C>T (p.Phe1250=)
c.3588C>T (p.Phe1196=)
c.3621C>T (p.Phe1207=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38566499G>CCA352149188SCN5Ac.3747C>G (p.Phe1249Leu)
c.3750C>G (p.Phe1250Leu)
c.3588C>G (p.Phe1196Leu)
c.3621C>G (p.Phe1207Leu)
 ClinVar dbSNP
3g.38566499G=CA1358569633SCN5Ac.3747C= (p.Phe1249=)
c.3750C= (p.Phe1250=)
c.3588C= (p.Phe1196=)
c.3621C= (p.Phe1207=)
3g.38566499G>TCA352149189SCN5Ac.3747C>A (p.Phe1249Leu)
c.3750C>A (p.Phe1250Leu)
c.3588C>A (p.Phe1196Leu)
c.3621C>A (p.Phe1207Leu)
3g.38566500A>CCA352149190SCN5Ac.3746T>G (p.Phe1249Cys)
c.3749T>G (p.Phe1250Cys)
c.3587T>G (p.Phe1196Cys)
c.3620T>G (p.Phe1207Cys)
3g.38566500A>GCA352149191SCN5Ac.3746T>C (p.Phe1249Ser)
c.3749T>C (p.Phe1250Ser)
c.3587T>C (p.Phe1196Ser)
c.3620T>C (p.Phe1207Ser)
 gnomAD v4
3g.38566500A>TCA352149192SCN5Ac.3746T>A (p.Phe1249Tyr)
c.3749T>A (p.Phe1250Tyr)
c.3587T>A (p.Phe1196Tyr)
c.3620T>A (p.Phe1207Tyr)
3g.38566501A=CA1358569651SCN5Ac.3745T= (p.Phe1249=)
c.3748T= (p.Phe1250=)
c.3586T= (p.Phe1196=)
c.3619T= (p.Phe1207=)
3g.38566501A>CCA352149193SCN5Ac.3745T>G (p.Phe1249Val)
c.3748T>G (p.Phe1250Val)
c.3586T>G (p.Phe1196Val)
c.3619T>G (p.Phe1207Val)
3g.38566501A>GCA017490SCN5Ac.3745T>C (p.Phe1249Leu)
c.3748T>C (p.Phe1250Leu)
c.3586T>C (p.Phe1196Leu)
c.3619T>C (p.Phe1207Leu)
 ClinVar dbSNP
3g.38566501A>TCA352149194SCN5Ac.3745T>A (p.Phe1249Ile)
c.3748T>A (p.Phe1250Ile)
c.3586T>A (p.Phe1196Ile)
c.3619T>A (p.Phe1207Ile)
3g.38566502G>ACA433136818SCN5Ac.3744C>T (p.Val1248=)
c.3747C>T (p.Val1249=)
c.3585C>T (p.Val1195=)
c.3618C>T (p.Val1206=)
3g.38566502G>CCA433136820SCN5Ac.3744C>G (p.Val1248=)
c.3747C>G (p.Val1249=)
c.3585C>G (p.Val1195=)
c.3618C>G (p.Val1206=)
3g.38566502G>TCA433136821SCN5Ac.3744C>A (p.Val1248=)
c.3747C>A (p.Val1249=)
c.3585C>A (p.Val1195=)
c.3618C>A (p.Val1206=)
 COSMIC COSMIC COSMIC
3g.38566502_38566503delinsATCA2697550807SCN5Ac.3743_3744delinsAT (p.Val1248Asp)
c.3746_3747delinsAT (p.Val1249Asp)
c.3584_3585delinsAT (p.Val1195Asp)
c.3617_3618delinsAT (p.Val1206Asp)
 ClinVar

Number of alleles fetched