Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38566389C>A | CA2840077997 | SCN5A | c.3837+20G>T (n.3837+20G>T) c.3840+20G>T (n.3840+20G>T) c.3678+20G>T (n.3678+20G>T) c.3711+20G>T (n.3711+20G>T) | |
3 | g.38566390T>C | CA2739278323 | SCN5A | c.3837+19A>G (n.3837+19A>G) c.3840+19A>G (n.3840+19A>G) c.3678+19A>G (n.3678+19A>G) c.3711+19A>G (n.3711+19A>G) | ClinVar |
3 | g.38566391dup | CA2577553197 | SCN5A | c.3837+19dup (n.3837+19dup) c.3840+19dup (n.3840+19dup) c.3678+19dup (n.3678+19dup) c.3711+19dup (n.3711+19dup) | ClinVar gnomAD v4 |
3 | g.38566391T>C | CA2665111937 | SCN5A | c.3837+18A>G (n.3837+18A>G) c.3840+18A>G (n.3840+18A>G) c.3678+18A>G (n.3678+18A>G) c.3711+18A>G (n.3711+18A>G) | gnomAD v4 |
3 | g.38566392C>A | CA2577553201 | SCN5A | c.3837+17G>T (n.3837+17G>T) c.3840+17G>T (n.3840+17G>T) c.3678+17G>T (n.3678+17G>T) c.3711+17G>T (n.3711+17G>T) | |
3 | g.38566392C= | CA1358569387 | SCN5A | c.3837+17G= (n.3837+17G=) c.3840+17G= (n.3840+17G=) c.3678+17G= (n.3678+17G=) c.3711+17G= (n.3711+17G=) | |
3 | g.38566392C>T | CA062330 | SCN5A | c.3837+17G>A (n.3837+17G>A) c.3840+17G>A (n.3840+17G>A) c.3678+17G>A (n.3678+17G>A) c.3711+17G>A (n.3711+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566393G>A | CA542615589 | SCN5A | c.3837+16C>T (n.3837+16C>T) c.3840+16C>T (n.3840+16C>T) c.3678+16C>T (n.3678+16C>T) c.3711+16C>T (n.3711+16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566393G>C | CA2665111938 | SCN5A | c.3837+16C>G (n.3837+16C>G) c.3840+16C>G (n.3840+16C>G) c.3678+16C>G (n.3678+16C>G) c.3711+16C>G (n.3711+16C>G) | ClinVar gnomAD v4 |
3 | g.38566393G= | CA1358569390 | SCN5A | c.3837+16C= (n.3837+16C=) c.3840+16C= (n.3840+16C=) c.3678+16C= (n.3678+16C=) c.3711+16C= (n.3711+16C=) | |
3 | g.38566393G>T | CA2577553203 | SCN5A | c.3837+16C>A (n.3837+16C>A) c.3840+16C>A (n.3840+16C>A) c.3678+16C>A (n.3678+16C>A) c.3711+16C>A (n.3711+16C>A) | gnomAD v4 |
3 | g.38566394G>A | CA062327 | SCN5A | c.3837+15C>T (n.3837+15C>T) c.3840+15C>T (n.3840+15C>T) c.3678+15C>T (n.3678+15C>T) c.3711+15C>T (n.3711+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566394G= | CA1358569392 | SCN5A | c.3837+15C= (n.3837+15C=) c.3840+15C= (n.3840+15C=) c.3678+15C= (n.3678+15C=) c.3711+15C= (n.3711+15C=) | |
3 | g.38566397_38566410del | CA2665111939 | SCN5A | c.3837+1_3837+14del c.3840+1_3840+14del c.3678+1_3678+14del c.3711+1_3711+14del | gnomAD v4 |
3 | g.38566397G>A | CA062323 | SCN5A | c.3837+12C>T (n.3837+12C>T) c.3840+12C>T (n.3840+12C>T) c.3678+12C>T (n.3678+12C>T) c.3711+12C>T (n.3711+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566397G= | CA1358569394 | SCN5A | c.3837+12C= (n.3837+12C=) c.3840+12C= (n.3840+12C=) c.3678+12C= (n.3678+12C=) c.3711+12C= (n.3711+12C=) | |
3 | g.38566398C>A | CA647831828 | SCN5A | c.3837+11G>T (n.3837+11G>T) c.3840+11G>T (n.3840+11G>T) c.3678+11G>T (n.3678+11G>T) c.3711+11G>T (n.3711+11G>T) | COSMIC |
3 | g.38566399C= | CA1358569398 | SCN5A | c.3837+10G= (n.3837+10G=) c.3840+10G= (n.3840+10G=) c.3678+10G= (n.3678+10G=) c.3711+10G= (n.3711+10G=) | |
3 | g.38566399C>T | CA1358569399 | SCN5A | c.3837+10G>A (n.3837+10G>A) c.3840+10G>A (n.3840+10G>A) c.3678+10G>A (n.3678+10G>A) c.3711+10G>A (n.3711+10G>A) | dbSNP |
3 | g.38566399_38566401delinsCCA | CA1358569396 | SCN5A | c.3837+8_3837+10delinsTGG (n.3837+8_3837+10delinsTGG) c.3840+8_3840+10delinsTGG (n.3840+8_3840+10delinsTGG) c.3678+8_3678+10delinsTGG (n.3678+8_3678+10delinsTGG) c.3711+8_3711+10delinsTGG (n.3711+8_3711+10delinsTGG) | |
3 | g.38566403_38566404dup | CA2319540 | SCN5A | c.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 |
3 | g.38566403_38566404del | CA062360 | SCN5A | c.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 |
3 | g.38566401A= | CA1358569402 | SCN5A | c.3837+8T= (n.3837+8T=) c.3840+8T= (n.3840+8T=) c.3678+8T= (n.3678+8T=) c.3711+8T= (n.3711+8T=) | |
3 | g.38566401A>G | CA062363 | SCN5A | c.3837+8T>C (n.3837+8T>C) c.3840+8T>C (n.3840+8T>C) c.3678+8T>C (n.3678+8T>C) c.3711+8T>C (n.3711+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566402C>A | CA062356 | SCN5A | c.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 |
3 | g.38566402C= | CA1358569404 | SCN5A | c.3837+7G= (n.3837+7G=) c.3840+7G= (n.3840+7G=) c.3678+7G= (n.3678+7G=) c.3711+7G= (n.3711+7G=) | |
3 | g.38566403A= | CA1358569405 | SCN5A | c.3837+6T= (n.3837+6T=) c.3840+6T= (n.3840+6T=) c.3678+6T= (n.3678+6T=) c.3711+6T= (n.3711+6T=) | |
3 | g.38566403A>G | CA542615590 | SCN5A | c.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 |
3 | g.38566404C= | CA1358569407 | SCN5A | c.3837+5G= (n.3837+5G=) c.3840+5G= (n.3840+5G=) c.3678+5G= (n.3678+5G=) c.3711+5G= (n.3711+5G=) | |
3 | g.38566404C>T | CA017550 | SCN5A | c.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 |
3 | g.38566406C>T | CA2665111940 | SCN5A | c.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 |
3 | g.38566407A>C | CA352148829 | SCN5A | c.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) | |
3 | g.38566407A>G | CA352148831 | SCN5A | c.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) | |
3 | g.38566407A>T | CA352148832 | SCN5A | c.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) | |
3 | g.38566408C>A | CA352148834 | SCN5A | c.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 |
3 | g.38566408C= | CA1358569412 | SCN5A | c.3837+1G= (n.3837+1G=) c.3840+1G= (n.3840+1G=) c.3678+1G= (n.3678+1G=) c.3711+1G= (n.3711+1G=) | |
3 | g.38566408C>G | CA352148835 | SCN5A | c.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) | |
3 | g.38566408C>T | CA352148837 | SCN5A | c.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 |
3 | g.38566409G>A | CA062368 | SCN5A | c.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 |
3 | g.38566409G>C | CA352148840 | SCN5A | c.3837C>G (p.Asp1279Glu) c.3840C>G (p.Asp1280Glu) c.3678C>G (p.Asp1226Glu) c.3711C>G (p.Asp1237Glu) | |
3 | g.38566409G= | CA1358569418 | SCN5A | c.3837C= (p.Asp1279=) c.3840C= (p.Asp1280=) c.3678C= (p.Asp1226=) c.3711C= (p.Asp1237=) | |
3 | g.38566409G>T | CA352148841 | SCN5A | c.3837C>A (p.Asp1279Glu) c.3840C>A (p.Asp1280Glu) c.3678C>A (p.Asp1226Glu) c.3711C>A (p.Asp1237Glu) | COSMIC COSMIC COSMIC |
3 | g.38566409_38566410del | CA2665111941 | SCN5A | c.3836_3837del (p.Asp1279GlyfsTer?) c.3839_3840del (p.Asp1280GlyfsTer?) c.3677_3678del (p.Asp1226GlyfsTer?) c.3710_3711del (p.Asp1237GlyfsTer?) | gnomAD v4 |
3 | g.38566410T>A | CA352148843 | SCN5A | c.3836A>T (p.Asp1279Val) c.3839A>T (p.Asp1280Val) c.3677A>T (p.Asp1226Val) c.3710A>T (p.Asp1237Val) | |
3 | g.38566410T>C | CA352148845 | SCN5A | c.3836A>G (p.Asp1279Gly) c.3839A>G (p.Asp1280Gly) c.3677A>G (p.Asp1226Gly) c.3710A>G (p.Asp1237Gly) | |
3 | g.38566410T>G | CA352148847 | SCN5A | c.3836A>C (p.Asp1279Ala) c.3839A>C (p.Asp1280Ala) c.3677A>C (p.Asp1226Ala) c.3710A>C (p.Asp1237Ala) | |
3 | g.38566411C>A | CA352148853 | SCN5A | c.3835G>T (p.Asp1279Tyr) c.3838G>T (p.Asp1280Tyr) c.3676G>T (p.Asp1226Tyr) c.3709G>T (p.Asp1237Tyr) | |
3 | g.38566411C>G | CA352148849 | SCN5A | c.3835G>C (p.Asp1279His) c.3838G>C (p.Asp1280His) c.3676G>C (p.Asp1226His) c.3709G>C (p.Asp1237His) | COSMIC COSMIC COSMIC |
3 | g.38566411C>T | CA352148851 | SCN5A | c.3835G>A (p.Asp1279Asn) c.3838G>A (p.Asp1280Asn) c.3676G>A (p.Asp1226Asn) c.3709G>A (p.Asp1237Asn) | |
3 | g.38566412T>A | CA433136682 | SCN5A | c.3834A>T (p.Val1278=) c.3837A>T (p.Val1279=) c.3675A>T (p.Val1225=) c.3708A>T (p.Val1236=) | |
3 | g.38566412T>C | CA72947481 | SCN5A | c.3834A>G (p.Val1278=) c.3837A>G (p.Val1279=) c.3675A>G (p.Val1225=) c.3708A>G (p.Val1236=) | dbSNP gnomAD v4 |
3 | g.38566412T>G | CA433136683 | SCN5A | c.3834A>C (p.Val1278=) c.3837A>C (p.Val1279=) c.3675A>C (p.Val1225=) c.3708A>C (p.Val1236=) | |
3 | g.38566412T= | CA1358569424 | SCN5A | c.3834A= (p.Val1278=) c.3837A= (p.Val1279=) c.3675A= (p.Val1225=) c.3708A= (p.Val1236=) | |
3 | g.38566413A>C | CA352148854 | SCN5A | c.3833T>G (p.Val1278Gly) c.3836T>G (p.Val1279Gly) c.3674T>G (p.Val1225Gly) c.3707T>G (p.Val1236Gly) | |
3 | g.38566413A>G | CA352148855 | SCN5A | c.3833T>C (p.Val1278Ala) c.3836T>C (p.Val1279Ala) c.3674T>C (p.Val1225Ala) c.3707T>C (p.Val1236Ala) | |
3 | g.38566413A>T | CA352148857 | SCN5A | c.3833T>A (p.Val1278Glu) c.3836T>A (p.Val1279Glu) c.3674T>A (p.Val1225Glu) c.3707T>A (p.Val1236Glu) | |
3 | g.38566414C>A | CA352148858 | SCN5A | c.3832G>T (p.Val1278Leu) c.3835G>T (p.Val1279Leu) c.3673G>T (p.Val1225Leu) c.3706G>T (p.Val1236Leu) | |
3 | g.38566414C= | CA1358569429 | SCN5A | c.3832G= (p.Val1278=) c.3835G= (p.Val1279=) c.3673G= (p.Val1225=) c.3706G= (p.Val1236=) | |
3 | g.38566414C>G | CA352148860 | SCN5A | c.3832G>C (p.Val1278Leu) c.3835G>C (p.Val1279Leu) c.3673G>C (p.Val1225Leu) c.3706G>C (p.Val1236Leu) | gnomAD v4 |
3 | g.38566414C>T | CA017547 | SCN5A | c.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 |
3 | g.38566415G>A | CA062316 | SCN5A | c.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 |
3 | g.38566415G>C | CA352148862 | SCN5A | c.3831C>G (p.Ile1277Met) c.3834C>G (p.Ile1278Met) c.3672C>G (p.Ile1224Met) c.3705C>G (p.Ile1235Met) | |
3 | g.38566415G= | CA1358569436 | SCN5A | c.3831C= (p.Ile1277=) c.3834C= (p.Ile1278=) c.3672C= (p.Ile1224=) c.3705C= (p.Ile1235=) | |
3 | g.38566415G>T | CA433136684 | SCN5A | c.3831C>A (p.Ile1277=) c.3834C>A (p.Ile1278=) c.3672C>A (p.Ile1224=) c.3705C>A (p.Ile1235=) | |
3 | g.38566416A= | CA1358569441 | SCN5A | c.3830T= (p.Ile1277=) c.3833T= (p.Ile1278=) c.3671T= (p.Ile1224=) c.3704T= (p.Ile1235=) | |
3 | g.38566416A>C | CA352148864 | SCN5A | c.3830T>G (p.Ile1277Ser) c.3833T>G (p.Ile1278Ser) c.3671T>G (p.Ile1224Ser) c.3704T>G (p.Ile1235Ser) | |
3 | g.38566416A>G | CA352148865 | SCN5A | c.3830T>C (p.Ile1277Thr) c.3833T>C (p.Ile1278Thr) c.3671T>C (p.Ile1224Thr) c.3704T>C (p.Ile1235Thr) | |
3 | g.38566416A>T | CA017542 | SCN5A | c.3830T>A (p.Ile1277Asn) c.3833T>A (p.Ile1278Asn) c.3671T>A (p.Ile1224Asn) c.3704T>A (p.Ile1235Asn) | ClinVar dbSNP |
3 | g.38566417T>A | CA352148869 | SCN5A | c.3829A>T (p.Ile1277Phe) c.3832A>T (p.Ile1278Phe) c.3670A>T (p.Ile1224Phe) c.3703A>T (p.Ile1235Phe) | ClinVar gnomAD v4 |
3 | g.38566417T>C | CA352148868 | SCN5A | c.3829A>G (p.Ile1277Val) c.3832A>G (p.Ile1278Val) c.3670A>G (p.Ile1224Val) c.3703A>G (p.Ile1235Val) | ClinVar |
3 | g.38566417T>G | CA352148867 | SCN5A | c.3829A>C (p.Ile1277Leu) c.3832A>C (p.Ile1278Leu) c.3670A>C (p.Ile1224Leu) c.3703A>C (p.Ile1235Leu) | |
3 | g.38566418G>A | CA433136686 | SCN5A | c.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 |
3 | g.38566418G>C | CA433136687 | SCN5A | c.3828C>G (p.Leu1276=) c.3831C>G (p.Leu1277=) c.3669C>G (p.Leu1223=) c.3702C>G (p.Leu1234=) | |
3 | g.38566418G= | CA1358569447 | SCN5A | c.3828C= (p.Leu1276=) c.3831C= (p.Leu1277=) c.3669C= (p.Leu1223=) c.3702C= (p.Leu1234=) | |
3 | g.38566418G>T | CA433136688 | SCN5A | c.3828C>A (p.Leu1276=) c.3831C>A (p.Leu1277=) c.3669C>A (p.Leu1223=) c.3702C>A (p.Leu1234=) | |
3 | g.38566419A= | CA1358569452 | SCN5A | c.3827T= (p.Leu1276=) c.3830T= (p.Leu1277=) c.3668T= (p.Leu1223=) c.3701T= (p.Leu1234=) | |
3 | g.38566419A>C | CA352148871 | SCN5A | c.3827T>G (p.Leu1276Arg) c.3830T>G (p.Leu1277Arg) c.3668T>G (p.Leu1223Arg) c.3701T>G (p.Leu1234Arg) | |
3 | g.38566419A>G | CA352148875 | SCN5A | c.3827T>C (p.Leu1276Pro) c.3830T>C (p.Leu1277Pro) c.3668T>C (p.Leu1223Pro) c.3701T>C (p.Leu1234Pro) | dbSNP |
3 | g.38566419A>T | CA352148873 | SCN5A | c.3827T>A (p.Leu1276His) c.3830T>A (p.Leu1277His) c.3668T>A (p.Leu1223His) c.3701T>A (p.Leu1234His) | |
3 | g.38566420G>A | CA352148876 | SCN5A | c.3826C>T (p.Leu1276Phe) c.3829C>T (p.Leu1277Phe) c.3667C>T (p.Leu1223Phe) c.3700C>T (p.Leu1234Phe) | |
3 | g.38566420G>C | CA352148877 | SCN5A | c.3826C>G (p.Leu1276Val) c.3829C>G (p.Leu1277Val) c.3667C>G (p.Leu1223Val) c.3700C>G (p.Leu1234Val) | |
3 | g.38566420G>T | CA352148878 | SCN5A | c.3826C>A (p.Leu1276Ile) c.3829C>A (p.Leu1277Ile) c.3667C>A (p.Leu1223Ile) c.3700C>A (p.Leu1234Ile) | |
3 | g.38566421G>A | CA433136691 | SCN5A | c.3825C>T (p.Phe1275=) c.3828C>T (p.Phe1276=) c.3666C>T (p.Phe1222=) c.3699C>T (p.Phe1233=) | gnomAD v4 |
3 | g.38566421G>C | CA352148881 | SCN5A | c.3825C>G (p.Phe1275Leu) c.3828C>G (p.Phe1276Leu) c.3666C>G (p.Phe1222Leu) c.3699C>G (p.Phe1233Leu) | |
3 | g.38566421G>T | CA352148882 | SCN5A | c.3825C>A (p.Phe1275Leu) c.3828C>A (p.Phe1276Leu) c.3666C>A (p.Phe1222Leu) c.3699C>A (p.Phe1233Leu) | |
3 | g.38566422A>C | CA352148883 | SCN5A | c.3824T>G (p.Phe1275Cys) c.3827T>G (p.Phe1276Cys) c.3665T>G (p.Phe1222Cys) c.3698T>G (p.Phe1233Cys) | |
3 | g.38566422A>G | CA352148884 | SCN5A | c.3824T>C (p.Phe1275Ser) c.3827T>C (p.Phe1276Ser) c.3665T>C (p.Phe1222Ser) c.3698T>C (p.Phe1233Ser) | |
3 | g.38566422A>T | CA352148886 | SCN5A | c.3824T>A (p.Phe1275Tyr) c.3827T>A (p.Phe1276Tyr) c.3665T>A (p.Phe1222Tyr) c.3698T>A (p.Phe1233Tyr) | |
3 | g.38566423A>C | CA352148887 | SCN5A | c.3823T>G (p.Phe1275Val) c.3826T>G (p.Phe1276Val) c.3664T>G (p.Phe1222Val) c.3697T>G (p.Phe1233Val) | |
3 | g.38566423A>G | CA352148889 | SCN5A | c.3823T>C (p.Phe1275Leu) c.3826T>C (p.Phe1276Leu) c.3664T>C (p.Phe1222Leu) c.3697T>C (p.Phe1233Leu) | |
3 | g.38566423A>T | CA352148891 | SCN5A | c.3823T>A (p.Phe1275Ile) c.3826T>A (p.Phe1276Ile) c.3664T>A (p.Phe1222Ile) c.3697T>A (p.Phe1233Ile) | |
3 | g.38566424G>A | CA433136694 | SCN5A | c.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 |
3 | g.38566424G>C | CA352148894 | SCN5A | c.3822C>G (p.Asp1274Glu) c.3825C>G (p.Asp1275Glu) c.3663C>G (p.Asp1221Glu) c.3696C>G (p.Asp1232Glu) | |
3 | g.38566424G= | CA1358569455 | SCN5A | c.3822C= (p.Asp1274=) c.3825C= (p.Asp1275=) c.3663C= (p.Asp1221=) c.3696C= (p.Asp1232=) | |
3 | g.38566424G>T | CA352148895 | SCN5A | c.3822C>A (p.Asp1274Glu) c.3825C>A (p.Asp1275Glu) c.3663C>A (p.Asp1221Glu) c.3696C>A (p.Asp1232Glu) | |
3 | g.38566425T>A | CA352148902 | SCN5A | c.3821A>T (p.Asp1274Val) c.3824A>T (p.Asp1275Val) c.3662A>T (p.Asp1221Val) c.3695A>T (p.Asp1232Val) | |
3 | g.38566425T>C | CA352148900 | SCN5A | c.3821A>G (p.Asp1274Gly) c.3824A>G (p.Asp1275Gly) c.3662A>G (p.Asp1221Gly) c.3695A>G (p.Asp1232Gly) | ClinVar dbSNP |
3 | g.38566425T>G | CA352148898 | SCN5A | c.3821A>C (p.Asp1274Ala) c.3824A>C (p.Asp1275Ala) c.3662A>C (p.Asp1221Ala) c.3695A>C (p.Asp1232Ala) | |
3 | g.38566426C>A | CA017536 | SCN5A | c.3820G>T (p.Asp1274Tyr) c.3823G>T (p.Asp1275Tyr) c.3661G>T (p.Asp1221Tyr) c.3694G>T (p.Asp1232Tyr) | ClinVar dbSNP |
3 | g.38566426C= | CA1358569462 | SCN5A | c.3820G= (p.Asp1274=) c.3823G= (p.Asp1275=) c.3661G= (p.Asp1221=) c.3694G= (p.Asp1232=) | |
3 | g.38566426C>G | CA352148906 | SCN5A | c.3820G>C (p.Asp1274His) c.3823G>C (p.Asp1275His) c.3661G>C (p.Asp1221His) c.3694G>C (p.Asp1232His) | |
3 | g.38566426C>T | CA017530 | SCN5A | c.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 |
3 | g.38566427G>A | CA062313 | SCN5A | c.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 |
3 | g.38566427G>C | CA433136696 | SCN5A | c.3819C>G (p.Leu1273=) c.3822C>G (p.Leu1274=) c.3660C>G (p.Leu1220=) c.3693C>G (p.Leu1231=) | |
3 | g.38566427G= | CA1358569466 | SCN5A | c.3819C= (p.Leu1273=) c.3822C= (p.Leu1274=) c.3660C= (p.Leu1220=) c.3693C= (p.Leu1231=) | |
3 | g.38566427G>T | CA433136697 | SCN5A | c.3819C>A (p.Leu1273=) c.3822C>A (p.Leu1274=) c.3660C>A (p.Leu1220=) c.3693C>A (p.Leu1231=) | |
3 | g.38566428A>C | CA352148909 | SCN5A | c.3818T>G (p.Leu1273Arg) c.3821T>G (p.Leu1274Arg) c.3659T>G (p.Leu1220Arg) c.3692T>G (p.Leu1231Arg) | |
3 | g.38566428A>G | CA352148911 | SCN5A | c.3818T>C (p.Leu1273Pro) c.3821T>C (p.Leu1274Pro) c.3659T>C (p.Leu1220Pro) c.3692T>C (p.Leu1231Pro) | |
3 | g.38566428A>T | CA352148913 | SCN5A | c.3818T>A (p.Leu1273His) c.3821T>A (p.Leu1274His) c.3659T>A (p.Leu1220His) c.3692T>A (p.Leu1231His) | |
3 | g.38566429G>A | CA352148915 | SCN5A | c.3817C>T (p.Leu1273Phe) c.3820C>T (p.Leu1274Phe) c.3658C>T (p.Leu1220Phe) c.3691C>T (p.Leu1231Phe) | ClinVar dbSNP |
3 | g.38566429G>C | CA352148916 | SCN5A | c.3817C>G (p.Leu1273Val) c.3820C>G (p.Leu1274Val) c.3658C>G (p.Leu1220Val) c.3691C>G (p.Leu1231Val) | gnomAD v4 |
3 | g.38566429G= | CA1358569469 | SCN5A | c.3817C= (p.Leu1273=) c.3820C= (p.Leu1274=) c.3658C= (p.Leu1220=) c.3691C= (p.Leu1231=) | |
3 | g.38566429G>T | CA352148917 | SCN5A | c.3817C>A (p.Leu1273Ile) c.3820C>A (p.Leu1274Ile) c.3658C>A (p.Leu1220Ile) c.3691C>A (p.Leu1231Ile) | |
3 | g.38566430C>A | CA062309 | SCN5A | c.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 |
3 | g.38566430C= | CA1358569472 | SCN5A | c.3816G= (p.Trp1272=) c.3819G= (p.Trp1273=) c.3657G= (p.Trp1219=) c.3690G= (p.Trp1230=) | |
3 | g.38566430C>G | CA352148919 | SCN5A | c.3816G>C (p.Trp1272Cys) c.3819G>C (p.Trp1273Cys) c.3657G>C (p.Trp1219Cys) c.3690G>C (p.Trp1230Cys) | gnomAD v4 |
3 | g.38566430C>T | CA352148921 | SCN5A | c.3816G>A (p.Trp1272Ter) c.3819G>A (p.Trp1273Ter) c.3657G>A (p.Trp1219Ter) c.3690G>A (p.Trp1230Ter) | ClinVar dbSNP |
3 | g.38566431C>A | CA352148924 | SCN5A | c.3815G>T (p.Trp1272Leu) c.3818G>T (p.Trp1273Leu) c.3656G>T (p.Trp1219Leu) c.3689G>T (p.Trp1230Leu) | |
3 | g.38566431C>G | CA352148925 | SCN5A | c.3815G>C (p.Trp1272Ser) c.3818G>C (p.Trp1273Ser) c.3656G>C (p.Trp1219Ser) c.3689G>C (p.Trp1230Ser) | |
3 | g.38566431C>T | CA352148923 | SCN5A | c.3815G>A (p.Trp1272Ter) c.3818G>A (p.Trp1273Ter) c.3656G>A (p.Trp1219Ter) c.3689G>A (p.Trp1230Ter) | |
3 | g.38566432A= | CA1358569477 | SCN5A | c.3814T= (p.Trp1272=) c.3817T= (p.Trp1273=) c.3655T= (p.Trp1219=) c.3688T= (p.Trp1230=) | |
3 | g.38566432A>C | CA352148927 | SCN5A | c.3814T>G (p.Trp1272Gly) c.3817T>G (p.Trp1273Gly) c.3655T>G (p.Trp1219Gly) c.3688T>G (p.Trp1230Gly) | ClinVar dbSNP |
3 | g.38566432A>G | CA352148928 | SCN5A | c.3814T>C (p.Trp1272Arg) c.3817T>C (p.Trp1273Arg) c.3655T>C (p.Trp1219Arg) c.3688T>C (p.Trp1230Arg) | |
3 | g.38566432A>T | CA352148930 | SCN5A | c.3814T>A (p.Trp1272Arg) c.3817T>A (p.Trp1273Arg) c.3655T>A (p.Trp1219Arg) c.3688T>A (p.Trp1230Arg) | |
3 | g.38566433G>A | CA433136701 | SCN5A | c.3813C>T (p.Cys1271=) c.3816C>T (p.Cys1272=) c.3654C>T (p.Cys1218=) c.3687C>T (p.Cys1229=) | |
3 | g.38566433G>C | CA352148932 | SCN5A | c.3813C>G (p.Cys1271Trp) c.3816C>G (p.Cys1272Trp) c.3654C>G (p.Cys1218Trp) c.3687C>G (p.Cys1229Trp) | |
3 | g.38566433G= | CA1358569479 | SCN5A | c.3813C= (p.Cys1271=) c.3816C= (p.Cys1272=) c.3654C= (p.Cys1218=) c.3687C= (p.Cys1229=) | |
3 | g.38566433G>T | CA352148934 | SCN5A | c.3813C>A (p.Cys1271Ter) c.3816C>A (p.Cys1272Ter) c.3654C>A (p.Cys1218Ter) c.3687C>A (p.Cys1229Ter) | dbSNP |
3 | g.38566434C>A | CA352148936 | SCN5A | c.3812G>T (p.Cys1271Phe) c.3815G>T (p.Cys1272Phe) c.3653G>T (p.Cys1218Phe) c.3686G>T (p.Cys1229Phe) | |
3 | g.38566434C>G | CA352148938 | SCN5A | c.3812G>C (p.Cys1271Ser) c.3815G>C (p.Cys1272Ser) c.3653G>C (p.Cys1218Ser) c.3686G>C (p.Cys1229Ser) | |
3 | g.38566434C>T | CA352148940 | SCN5A | c.3812G>A (p.Cys1271Tyr) c.3815G>A (p.Cys1272Tyr) c.3653G>A (p.Cys1218Tyr) c.3686G>A (p.Cys1229Tyr) | ClinVar |
3 | g.38566435A>C | CA352148942 | SCN5A | c.3811T>G (p.Cys1271Gly) c.3814T>G (p.Cys1272Gly) c.3652T>G (p.Cys1218Gly) c.3685T>G (p.Cys1229Gly) | |
3 | g.38566435A>G | CA352148944 | SCN5A | c.3811T>C (p.Cys1271Arg) c.3814T>C (p.Cys1272Arg) c.3652T>C (p.Cys1218Arg) c.3685T>C (p.Cys1229Arg) | |
3 | g.38566435A>T | CA352148946 | SCN5A | c.3811T>A (p.Cys1271Ser) c.3814T>A (p.Cys1272Ser) c.3652T>A (p.Cys1218Ser) c.3685T>A (p.Cys1229Ser) | |
3 | g.38566436C>A | CA352148951 | SCN5A | c.3810G>T (p.Trp1270Cys) c.3813G>T (p.Trp1271Cys) c.3651G>T (p.Trp1217Cys) c.3684G>T (p.Trp1228Cys) | |
3 | g.38566436C= | CA1358569482 | SCN5A | c.3810G= (p.Trp1270=) c.3813G= (p.Trp1271=) c.3651G= (p.Trp1217=) c.3684G= (p.Trp1228=) | |
3 | g.38566436C>G | CA017524 | SCN5A | c.3810G>C (p.Trp1270Cys) c.3813G>C (p.Trp1271Cys) c.3651G>C (p.Trp1217Cys) c.3684G>C (p.Trp1228Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.38566436C>T | CA352148948 | SCN5A | c.3810G>A (p.Trp1270Ter) c.3813G>A (p.Trp1271Ter) c.3651G>A (p.Trp1217Ter) c.3684G>A (p.Trp1228Ter) | ClinVar dbSNP |
3 | g.38566437C>A | CA352148952 | SCN5A | c.3809G>T (p.Trp1270Leu) c.3812G>T (p.Trp1271Leu) c.3650G>T (p.Trp1217Leu) c.3683G>T (p.Trp1228Leu) | |
3 | g.38566437C= | CA1358569489 | SCN5A | c.3809G= (p.Trp1270=) c.3812G= (p.Trp1271=) c.3650G= (p.Trp1217=) c.3683G= (p.Trp1228=) | |
3 | g.38566437C>G | CA352148954 | SCN5A | c.3809G>C (p.Trp1270Ser) c.3812G>C (p.Trp1271Ser) c.3650G>C (p.Trp1217Ser) c.3683G>C (p.Trp1228Ser) | |
3 | g.38566437C>T | CA352148956 | SCN5A | c.3809G>A (p.Trp1270Ter) c.3812G>A (p.Trp1271Ter) c.3650G>A (p.Trp1217Ter) c.3683G>A (p.Trp1228Ter) | ClinVar dbSNP |
3 | g.38566438A>C | CA352148958 | SCN5A | c.3808T>G (p.Trp1270Gly) c.3811T>G (p.Trp1271Gly) c.3649T>G (p.Trp1217Gly) c.3682T>G (p.Trp1228Gly) | |
3 | g.38566438A>G | CA352148960 | SCN5A | c.3808T>C (p.Trp1270Arg) c.3811T>C (p.Trp1271Arg) c.3649T>C (p.Trp1217Arg) c.3682T>C (p.Trp1228Arg) | |
3 | g.38566438A>T | CA352148962 | SCN5A | c.3808T>A (p.Trp1270Arg) c.3811T>A (p.Trp1271Arg) c.3649T>A (p.Trp1217Arg) c.3682T>A (p.Trp1228Arg) | |
3 | g.38566439G>A | CA017518 | SCN5A | c.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 |
3 | g.38566439G>C | CA433136709 | SCN5A | c.3807C>G (p.Ala1269=) c.3810C>G (p.Ala1270=) c.3648C>G (p.Ala1216=) c.3681C>G (p.Ala1227=) | COSMIC COSMIC COSMIC |
3 | g.38566439G= | CA1358569496 | SCN5A | c.3807C= (p.Ala1269=) c.3810C= (p.Ala1270=) c.3648C= (p.Ala1216=) c.3681C= (p.Ala1227=) | |
3 | g.38566439G>T | CA433136710 | SCN5A | c.3807C>A (p.Ala1269=) c.3810C>A (p.Ala1270=) c.3648C>A (p.Ala1216=) c.3681C>A (p.Ala1227=) | |
3 | g.38566440G>A | CA352148964 | SCN5A | c.3806C>T (p.Ala1269Val) c.3809C>T (p.Ala1270Val) c.3647C>T (p.Ala1216Val) c.3680C>T (p.Ala1227Val) | |
3 | g.38566440G>C | CA352148966 | SCN5A | c.3806C>G (p.Ala1269Gly) c.3809C>G (p.Ala1270Gly) c.3647C>G (p.Ala1216Gly) c.3680C>G (p.Ala1227Gly) | |
3 | g.38566440G>T | CA352148968 | SCN5A | c.3806C>A (p.Ala1269Asp) c.3809C>A (p.Ala1270Asp) c.3647C>A (p.Ala1216Asp) c.3680C>A (p.Ala1227Asp) | |
3 | g.38566441C>A | CA352148969 | SCN5A | c.3805G>T (p.Ala1269Ser) c.3808G>T (p.Ala1270Ser) c.3646G>T (p.Ala1216Ser) c.3679G>T (p.Ala1227Ser) | gnomAD v4 |
3 | g.38566441C>G | CA352148971 | SCN5A | c.3805G>C (p.Ala1269Pro) c.3808G>C (p.Ala1270Pro) c.3646G>C (p.Ala1216Pro) c.3679G>C (p.Ala1227Pro) | |
3 | g.38566441C>T | CA352148973 | SCN5A | c.3805G>A (p.Ala1269Thr) c.3808G>A (p.Ala1270Thr) c.3646G>A (p.Ala1216Thr) c.3679G>A (p.Ala1227Thr) | |
3 | g.38566442A>C | CA352148975 | SCN5A | c.3804T>G (p.Asn1268Lys) c.3807T>G (p.Asn1269Lys) c.3645T>G (p.Asn1215Lys) c.3678T>G (p.Asn1226Lys) | |
3 | g.38566442A>G | CA433136715 | SCN5A | c.3804T>C (p.Asn1268=) c.3807T>C (p.Asn1269=) c.3645T>C (p.Asn1215=) c.3678T>C (p.Asn1226=) | ClinVar gnomAD v4 |
3 | g.38566442A>T | CA352148977 | SCN5A | c.3804T>A (p.Asn1268Lys) c.3807T>A (p.Asn1269Lys) c.3645T>A (p.Asn1215Lys) c.3678T>A (p.Asn1226Lys) | gnomAD v4 |
3 | g.38566443T>A | CA352148980 | SCN5A | c.3803A>T (p.Asn1268Ile) c.3806A>T (p.Asn1269Ile) c.3644A>T (p.Asn1215Ile) c.3677A>T (p.Asn1226Ile) | |
3 | g.38566443T>C | CA062301 | SCN5A | c.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 |
3 | g.38566443T>G | CA352148982 | SCN5A | c.3803A>C (p.Asn1268Thr) c.3806A>C (p.Asn1269Thr) c.3644A>C (p.Asn1215Thr) c.3677A>C (p.Asn1226Thr) | |
3 | g.38566443T= | CA1358569505 | SCN5A | c.3803A= (p.Asn1268=) c.3806A= (p.Asn1269=) c.3644A= (p.Asn1215=) c.3677A= (p.Asn1226=) | |
3 | g.38566444T>A | CA352148984 | SCN5A | c.3802A>T (p.Asn1268Tyr) c.3805A>T (p.Asn1269Tyr) c.3643A>T (p.Asn1215Tyr) c.3676A>T (p.Asn1226Tyr) | |
3 | g.38566444T>C | CA352148986 | SCN5A | c.3802A>G (p.Asn1268Asp) c.3805A>G (p.Asn1269Asp) c.3643A>G (p.Asn1215Asp) c.3676A>G (p.Asn1226Asp) | |
3 | g.38566444T>G | CA352148988 | SCN5A | c.3802A>C (p.Asn1268His) c.3805A>C (p.Asn1269His) c.3643A>C (p.Asn1215His) c.3676A>C (p.Asn1226His) | |
3 | g.38566445G>A | CA433136720 | SCN5A | c.3801C>T (p.Thr1267=) c.3804C>T (p.Thr1268=) c.3642C>T (p.Thr1214=) c.3675C>T (p.Thr1225=) | |
3 | g.38566445G>C | CA433136723 | SCN5A | c.3801C>G (p.Thr1267=) c.3804C>G (p.Thr1268=) c.3642C>G (p.Thr1214=) c.3675C>G (p.Thr1225=) | COSMIC |
3 | g.38566445G>T | CA433136724 | SCN5A | c.3801C>A (p.Thr1267=) c.3804C>A (p.Thr1268=) c.3642C>A (p.Thr1214=) c.3675C>A (p.Thr1225=) | |
3 | g.38566446G>A | CA352148990 | SCN5A | c.3800C>T (p.Thr1267Ile) c.3803C>T (p.Thr1268Ile) c.3641C>T (p.Thr1214Ile) c.3674C>T (p.Thr1225Ile) | |
3 | g.38566446G>C | CA352148992 | SCN5A | c.3800C>G (p.Thr1267Ser) c.3803C>G (p.Thr1268Ser) c.3641C>G (p.Thr1214Ser) c.3674C>G (p.Thr1225Ser) | gnomAD v4 |
3 | g.38566446G= | CA1358569511 | SCN5A | c.3800C= (p.Thr1267=) c.3803C= (p.Thr1268=) c.3641C= (p.Thr1214=) c.3674C= (p.Thr1225=) | |
3 | g.38566446G>T | CA352148993 | SCN5A | c.3800C>A (p.Thr1267Asn) c.3803C>A (p.Thr1268Asn) c.3641C>A (p.Thr1214Asn) c.3674C>A (p.Thr1225Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566447T>A | CA352148995 | SCN5A | c.3799A>T (p.Thr1267Ser) c.3802A>T (p.Thr1268Ser) c.3640A>T (p.Thr1214Ser) c.3673A>T (p.Thr1225Ser) | dbSNP gnomAD v2 |
3 | g.38566447T>C | CA352148997 | SCN5A | c.3799A>G (p.Thr1267Ala) c.3802A>G (p.Thr1268Ala) c.3640A>G (p.Thr1214Ala) c.3673A>G (p.Thr1225Ala) | |
3 | g.38566447T>G | CA352148999 | SCN5A | c.3799A>C (p.Thr1267Pro) c.3802A>C (p.Thr1268Pro) c.3640A>C (p.Thr1214Pro) c.3673A>C (p.Thr1225Pro) | |
3 | g.38566447T= | CA1358569515 | SCN5A | c.3799A= (p.Thr1267=) c.3802A= (p.Thr1268=) c.3640A= (p.Thr1214=) c.3673A= (p.Thr1225=) | |
3 | g.38566448G>A | CA062297 | SCN5A | c.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 |
3 | g.38566448G>C | CA352149002 | SCN5A | c.3798C>G (p.Phe1266Leu) c.3801C>G (p.Phe1267Leu) c.3639C>G (p.Phe1213Leu) c.3672C>G (p.Phe1224Leu) | |
3 | g.38566448G= | CA1358569517 | SCN5A | c.3798C= (p.Phe1266=) c.3801C= (p.Phe1267=) c.3639C= (p.Phe1213=) c.3672C= (p.Phe1224=) | |
3 | g.38566448G>T | CA352149003 | SCN5A | c.3798C>A (p.Phe1266Leu) c.3801C>A (p.Phe1267Leu) c.3639C>A (p.Phe1213Leu) c.3672C>A (p.Phe1224Leu) | |
3 | g.38566449A>C | CA352149007 | SCN5A | c.3797T>G (p.Phe1266Cys) c.3800T>G (p.Phe1267Cys) c.3638T>G (p.Phe1213Cys) c.3671T>G (p.Phe1224Cys) | |
3 | g.38566449A>G | CA352149005 | SCN5A | c.3797T>C (p.Phe1266Ser) c.3800T>C (p.Phe1267Ser) c.3638T>C (p.Phe1213Ser) c.3671T>C (p.Phe1224Ser) | |
3 | g.38566449A>T | CA352149006 | SCN5A | c.3797T>A (p.Phe1266Tyr) c.3800T>A (p.Phe1267Tyr) c.3638T>A (p.Phe1213Tyr) c.3671T>A (p.Phe1224Tyr) | |
3 | g.38566450A>C | CA352149008 | SCN5A | c.3796T>G (p.Phe1266Val) c.3799T>G (p.Phe1267Val) c.3637T>G (p.Phe1213Val) c.3670T>G (p.Phe1224Val) | |
3 | g.38566450A>G | CA352149010 | SCN5A | c.3796T>C (p.Phe1266Leu) c.3799T>C (p.Phe1267Leu) c.3637T>C (p.Phe1213Leu) c.3670T>C (p.Phe1224Leu) | |
3 | g.38566450A>T | CA352149012 | SCN5A | c.3796T>A (p.Phe1266Ile) c.3799T>A (p.Phe1267Ile) c.3637T>A (p.Phe1213Ile) c.3670T>A (p.Phe1224Ile) | |
3 | g.38566451G>A | CA062289 | SCN5A | c.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 |
3 | g.38566451G>C | CA352149014 | SCN5A | c.3795C>G (p.Tyr1265Ter) c.3798C>G (p.Tyr1266Ter) c.3636C>G (p.Tyr1212Ter) c.3669C>G (p.Tyr1223Ter) | |
3 | g.38566451G= | CA1358569520 | SCN5A | c.3795C= (p.Tyr1265=) c.3798C= (p.Tyr1266=) c.3636C= (p.Tyr1212=) c.3669C= (p.Tyr1223=) | |
3 | g.38566451G>T | CA352149015 | SCN5A | c.3795C>A (p.Tyr1265Ter) c.3798C>A (p.Tyr1266Ter) c.3636C>A (p.Tyr1212Ter) c.3669C>A (p.Tyr1223Ter) | |
3 | g.38566452T>A | CA352149017 | SCN5A | c.3794A>T (p.Tyr1265Phe) c.3797A>T (p.Tyr1266Phe) c.3635A>T (p.Tyr1212Phe) c.3668A>T (p.Tyr1223Phe) | |
3 | g.38566452T>C | CA352149019 | SCN5A | c.3794A>G (p.Tyr1265Cys) c.3797A>G (p.Tyr1266Cys) c.3635A>G (p.Tyr1212Cys) c.3668A>G (p.Tyr1223Cys) | |
3 | g.38566452T>G | CA352149020 | SCN5A | c.3794A>C (p.Tyr1265Ser) c.3797A>C (p.Tyr1266Ser) c.3635A>C (p.Tyr1212Ser) c.3668A>C (p.Tyr1223Ser) | |
3 | g.38566453A>C | CA352149022 | SCN5A | c.3793T>G (p.Tyr1265Asp) c.3796T>G (p.Tyr1266Asp) c.3634T>G (p.Tyr1212Asp) c.3667T>G (p.Tyr1223Asp) | |
3 | g.38566453A>G | CA352149023 | SCN5A | c.3793T>C (p.Tyr1265His) c.3796T>C (p.Tyr1266His) c.3634T>C (p.Tyr1212His) c.3667T>C (p.Tyr1223His) | |
3 | g.38566453A>T | CA352149024 | SCN5A | c.3793T>A (p.Tyr1265Asn) c.3796T>A (p.Tyr1266Asn) c.3634T>A (p.Tyr1212Asn) c.3667T>A (p.Tyr1223Asn) | |
3 | g.38566454C>A | CA352149026 | SCN5A | c.3792G>T (p.Lys1264Asn) c.3795G>T (p.Lys1265Asn) c.3633G>T (p.Lys1211Asn) c.3666G>T (p.Lys1222Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.38566454C= | CA1358569532 | SCN5A | c.3792G= (p.Lys1264=) c.3795G= (p.Lys1265=) c.3633G= (p.Lys1211=) c.3666G= (p.Lys1222=) | |
3 | g.38566454C>G | CA352149027 | SCN5A | c.3792G>C (p.Lys1264Asn) c.3795G>C (p.Lys1265Asn) c.3633G>C (p.Lys1211Asn) c.3666G>C (p.Lys1222Asn) | |
3 | g.38566454C>T | CA433136735 | SCN5A | c.3792G>A (p.Lys1264=) c.3795G>A (p.Lys1265=) c.3633G>A (p.Lys1211=) c.3666G>A (p.Lys1222=) | ClinVar dbSNP gnomAD v4 |
3 | g.38566455T>A | CA352149029 | SCN5A | c.3791A>T (p.Lys1264Met) c.3794A>T (p.Lys1265Met) c.3632A>T (p.Lys1211Met) c.3665A>T (p.Lys1222Met) | |
3 | g.38566455T>C | CA352149031 | SCN5A | c.3791A>G (p.Lys1264Arg) c.3794A>G (p.Lys1265Arg) c.3632A>G (p.Lys1211Arg) c.3665A>G (p.Lys1222Arg) | |
3 | g.38566455T>G | CA352149032 | SCN5A | c.3791A>C (p.Lys1264Thr) c.3794A>C (p.Lys1265Thr) c.3632A>C (p.Lys1211Thr) c.3665A>C (p.Lys1222Thr) | |
3 | g.38566456T>A | CA352149034 | SCN5A | c.3790A>T (p.Lys1264Ter) c.3793A>T (p.Lys1265Ter) c.3631A>T (p.Lys1211Ter) c.3664A>T (p.Lys1222Ter) | dbSNP |
3 | g.38566456T>C | CA352149035 | SCN5A | c.3790A>G (p.Lys1264Glu) c.3793A>G (p.Lys1265Glu) c.3631A>G (p.Lys1211Glu) c.3664A>G (p.Lys1222Glu) | |
3 | g.38566456T>G | CA352149036 | SCN5A | c.3790A>C (p.Lys1264Gln) c.3793A>C (p.Lys1265Gln) c.3631A>C (p.Lys1211Gln) c.3664A>C (p.Lys1222Gln) | |
3 | g.38566456T= | CA1358569538 | SCN5A | c.3790A= (p.Lys1264=) c.3793A= (p.Lys1265=) c.3631A= (p.Lys1211=) c.3664A= (p.Lys1222=) | |
3 | g.38566457C>A | CA352149037 | SCN5A | c.3789G>T (p.Lys1263Asn) c.3792G>T (p.Lys1264Asn) c.3630G>T (p.Lys1210Asn) c.3663G>T (p.Lys1221Asn) | |
3 | g.38566457C= | CA1358569541 | SCN5A | c.3789G= (p.Lys1263=) c.3792G= (p.Lys1264=) c.3630G= (p.Lys1210=) c.3663G= (p.Lys1221=) | |
3 | g.38566457C>G | CA062282 | SCN5A | c.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 |
3 | g.38566457C>T | CA433136737 | SCN5A | c.3789G>A (p.Lys1263=) c.3792G>A (p.Lys1264=) c.3630G>A (p.Lys1210=) c.3663G>A (p.Lys1221=) | ClinVar gnomAD v4 |
3 | g.38566458T>A | CA352149039 | SCN5A | c.3788A>T (p.Lys1263Met) c.3791A>T (p.Lys1264Met) c.3629A>T (p.Lys1210Met) c.3662A>T (p.Lys1221Met) | |
3 | g.38566458T>C | CA352149041 | SCN5A | c.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 |
3 | g.38566458T>G | CA352149042 | SCN5A | c.3788A>C (p.Lys1263Thr) c.3791A>C (p.Lys1264Thr) c.3629A>C (p.Lys1210Thr) c.3662A>C (p.Lys1221Thr) | |
3 | g.38566458T= | CA1358569546 | SCN5A | c.3788A= (p.Lys1263=) c.3791A= (p.Lys1264=) c.3629A= (p.Lys1210=) c.3662A= (p.Lys1221=) | |
3 | g.38566459T>A | CA352149044 | SCN5A | c.3787A>T (p.Lys1263Ter) c.3790A>T (p.Lys1264Ter) c.3628A>T (p.Lys1210Ter) c.3661A>T (p.Lys1221Ter) | dbSNP |
3 | g.38566459T>C | CA352149045 | SCN5A | c.3787A>G (p.Lys1263Glu) c.3790A>G (p.Lys1264Glu) c.3628A>G (p.Lys1210Glu) c.3661A>G (p.Lys1221Glu) | gnomAD v4 |
3 | g.38566459T>G | CA352149047 | SCN5A | c.3787A>C (p.Lys1263Gln) c.3790A>C (p.Lys1264Gln) c.3628A>C (p.Lys1210Gln) c.3661A>C (p.Lys1221Gln) | |
3 | g.38566459T= | CA1358569550 | SCN5A | c.3787A= (p.Lys1263=) c.3790A= (p.Lys1264=) c.3628A= (p.Lys1210=) c.3661A= (p.Lys1221=) | |
3 | g.38566460G>A | CA433136742 | SCN5A | c.3786C>T (p.Phe1262=) c.3789C>T (p.Phe1263=) c.3627C>T (p.Phe1209=) c.3660C>T (p.Phe1220=) | |
3 | g.38566460G>C | CA352149049 | SCN5A | c.3786C>G (p.Phe1262Leu) c.3789C>G (p.Phe1263Leu) c.3627C>G (p.Phe1209Leu) c.3660C>G (p.Phe1220Leu) | |
3 | g.38566460G>T | CA352149051 | SCN5A | c.3786C>A (p.Phe1262Leu) c.3789C>A (p.Phe1263Leu) c.3627C>A (p.Phe1209Leu) c.3660C>A (p.Phe1220Leu) | |
3 | g.38566461A= | CA1358569553 | SCN5A | c.3785T= (p.Phe1262=) c.3788T= (p.Phe1263=) c.3626T= (p.Phe1209=) c.3659T= (p.Phe1220=) | |
3 | g.38566461A>C | CA352149054 | SCN5A | c.3785T>G (p.Phe1262Cys) c.3788T>G (p.Phe1263Cys) c.3626T>G (p.Phe1209Cys) c.3659T>G (p.Phe1220Cys) | |
3 | g.38566461A>G | CA352149055 | SCN5A | c.3785T>C (p.Phe1262Ser) c.3788T>C (p.Phe1263Ser) c.3626T>C (p.Phe1209Ser) c.3659T>C (p.Phe1220Ser) | dbSNP |
3 | g.38566461A>T | CA352149057 | SCN5A | c.3785T>A (p.Phe1262Tyr) c.3788T>A (p.Phe1263Tyr) c.3626T>A (p.Phe1209Tyr) c.3659T>A (p.Phe1220Tyr) | |
3 | g.38566462A>C | CA352149058 | SCN5A | c.3784T>G (p.Phe1262Val) c.3787T>G (p.Phe1263Val) c.3625T>G (p.Phe1209Val) c.3658T>G (p.Phe1220Val) | |
3 | g.38566462A>G | CA352149059 | SCN5A | c.3784T>C (p.Phe1262Leu) c.3787T>C (p.Phe1263Leu) c.3625T>C (p.Phe1209Leu) c.3658T>C (p.Phe1220Leu) | |
3 | g.38566462A>T | CA352149061 | SCN5A | c.3784T>A (p.Phe1262Ile) c.3787T>A (p.Phe1263Ile) c.3625T>A (p.Phe1209Ile) c.3658T>A (p.Phe1220Ile) | |
3 | g.38566463G>A | CA433136744 | SCN5A | c.3783C>T (p.Gly1261=) c.3786C>T (p.Gly1262=) c.3624C>T (p.Gly1208=) c.3657C>T (p.Gly1219=) | COSMIC COSMIC COSMIC |
3 | g.38566463G>C | CA433136747 | SCN5A | c.3783C>G (p.Gly1261=) c.3786C>G (p.Gly1262=) c.3624C>G (p.Gly1208=) c.3657C>G (p.Gly1219=) | |
3 | g.38566463G>T | CA433136746 | SCN5A | c.3783C>A (p.Gly1261=) c.3786C>A (p.Gly1262=) c.3624C>A (p.Gly1208=) c.3657C>A (p.Gly1219=) | |
3 | g.38566464C>A | CA352149063 | SCN5A | c.3782G>T (p.Gly1261Val) c.3785G>T (p.Gly1262Val) c.3623G>T (p.Gly1208Val) c.3656G>T (p.Gly1219Val) | |
3 | g.38566464C= | CA1358569556 | SCN5A | c.3782G= (p.Gly1261=) c.3785G= (p.Gly1262=) c.3623G= (p.Gly1208=) c.3656G= (p.Gly1219=) | |
3 | g.38566464C>G | CA352149065 | SCN5A | c.3782G>C (p.Gly1261Ala) c.3785G>C (p.Gly1262Ala) c.3623G>C (p.Gly1208Ala) c.3656G>C (p.Gly1219Ala) | |
3 | g.38566464C>T | CA352149066 | SCN5A | c.3782G>A (p.Gly1261Asp) c.3785G>A (p.Gly1262Asp) c.3623G>A (p.Gly1208Asp) c.3656G>A (p.Gly1219Asp) | dbSNP |
3 | g.38566465C>A | CA352149068 | SCN5A | c.3781G>T (p.Gly1261Cys) c.3784G>T (p.Gly1262Cys) c.3622G>T (p.Gly1208Cys) c.3655G>T (p.Gly1219Cys) | ClinVar dbSNP |
3 | g.38566465C= | CA1358569561 | SCN5A | c.3781G= (p.Gly1261=) c.3784G= (p.Gly1262=) c.3622G= (p.Gly1208=) c.3655G= (p.Gly1219=) | |
3 | g.38566465C>G | CA352149069 | SCN5A | c.3781G>C (p.Gly1261Arg) c.3784G>C (p.Gly1262Arg) c.3622G>C (p.Gly1208Arg) c.3655G>C (p.Gly1219Arg) | |
3 | g.38566465C>T | CA017513 | SCN5A | c.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 |
3 | g.38566466G>A | CA062271 | SCN5A | c.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 |
3 | g.38566466G>C | CA352149074 | SCN5A | c.3780C>G (p.Tyr1260Ter) c.3783C>G (p.Tyr1261Ter) c.3621C>G (p.Tyr1207Ter) c.3654C>G (p.Tyr1218Ter) | |
3 | g.38566466G= | CA1358569564 | SCN5A | c.3780C= (p.Tyr1260=) c.3783C= (p.Tyr1261=) c.3621C= (p.Tyr1207=) c.3654C= (p.Tyr1218=) | |
3 | g.38566466G>T | CA352149072 | SCN5A | c.3780C>A (p.Tyr1260Ter) c.3783C>A (p.Tyr1261Ter) c.3621C>A (p.Tyr1207Ter) c.3654C>A (p.Tyr1218Ter) | |
3 | g.38566467T>A | CA352149076 | SCN5A | c.3779A>T (p.Tyr1260Phe) c.3782A>T (p.Tyr1261Phe) c.3620A>T (p.Tyr1207Phe) c.3653A>T (p.Tyr1218Phe) | |
3 | g.38566467T>C | CA352149079 | SCN5A | c.3779A>G (p.Tyr1260Cys) c.3782A>G (p.Tyr1261Cys) c.3620A>G (p.Tyr1207Cys) c.3653A>G (p.Tyr1218Cys) | gnomAD v4 |
3 | g.38566467T>G | CA352149077 | SCN5A | c.3779A>C (p.Tyr1260Ser) c.3782A>C (p.Tyr1261Ser) c.3620A>C (p.Tyr1207Ser) c.3653A>C (p.Tyr1218Ser) | |
3 | g.38566468A>C | CA352149081 | SCN5A | c.3778T>G (p.Tyr1260Asp) c.3781T>G (p.Tyr1261Asp) c.3619T>G (p.Tyr1207Asp) c.3652T>G (p.Tyr1218Asp) | gnomAD v4 |
3 | g.38566468A>G | CA352149084 | SCN5A | c.3778T>C (p.Tyr1260His) c.3781T>C (p.Tyr1261His) c.3619T>C (p.Tyr1207His) c.3652T>C (p.Tyr1218His) | |
3 | g.38566468A>T | CA352149083 | SCN5A | c.3778T>A (p.Tyr1260Asn) c.3781T>A (p.Tyr1261Asn) c.3619T>A (p.Tyr1207Asn) c.3652T>A (p.Tyr1218Asn) | |
3 | g.38566469G>A | CA433136756 | SCN5A | c.3777C>T (p.Ala1259=) c.3780C>T (p.Ala1260=) c.3618C>T (p.Ala1206=) c.3651C>T (p.Ala1217=) | ClinVar |
3 | g.38566469G>C | CA433136758 | SCN5A | c.3777C>G (p.Ala1259=) c.3780C>G (p.Ala1260=) c.3618C>G (p.Ala1206=) c.3651C>G (p.Ala1217=) | |
3 | g.38566469G>T | CA433136760 | SCN5A | c.3777C>A (p.Ala1259=) c.3780C>A (p.Ala1260=) c.3618C>A (p.Ala1206=) c.3651C>A (p.Ala1217=) | |
3 | g.38566470G>A | CA352149087 | SCN5A | c.3776C>T (p.Ala1259Val) c.3779C>T (p.Ala1260Val) c.3617C>T (p.Ala1206Val) c.3650C>T (p.Ala1217Val) | |
3 | g.38566470G>C | CA352149088 | SCN5A | c.3776C>G (p.Ala1259Gly) c.3779C>G (p.Ala1260Gly) c.3617C>G (p.Ala1206Gly) c.3650C>G (p.Ala1217Gly) | |
3 | g.38566470G= | CA1358569570 | SCN5A | c.3776C= (p.Ala1259=) c.3779C= (p.Ala1260=) c.3617C= (p.Ala1206=) c.3650C= (p.Ala1217=) | |
3 | g.38566470G>T | CA72947520 | SCN5A | c.3776C>A (p.Ala1259Asp) c.3779C>A (p.Ala1260Asp) c.3617C>A (p.Ala1206Asp) c.3650C>A (p.Ala1217Asp) | dbSNP |
3 | g.38566471C>A | CA352149090 | SCN5A | c.3775G>T (p.Ala1259Ser) c.3778G>T (p.Ala1260Ser) c.3616G>T (p.Ala1206Ser) c.3649G>T (p.Ala1217Ser) | ClinVar dbSNP |
3 | g.38566471C>G | CA352149093 | SCN5A | c.3775G>C (p.Ala1259Pro) c.3778G>C (p.Ala1260Pro) c.3616G>C (p.Ala1206Pro) c.3649G>C (p.Ala1217Pro) | |
3 | g.38566471C>T | CA352149092 | SCN5A | c.3775G>A (p.Ala1259Thr) c.3778G>A (p.Ala1260Thr) c.3616G>A (p.Ala1206Thr) c.3649G>A (p.Ala1217Thr) | |
3 | g.38566472C>A | CA433136761 | SCN5A | c.3774G>T (p.Val1258=) c.3777G>T (p.Val1259=) c.3615G>T (p.Val1205=) c.3648G>T (p.Val1216=) | |
3 | g.38566472C>G | CA433136762 | SCN5A | c.3774G>C (p.Val1258=) c.3777G>C (p.Val1259=) c.3615G>C (p.Val1205=) c.3648G>C (p.Val1216=) | |
3 | g.38566472C>T | CA433136763 | SCN5A | c.3774G>A (p.Val1258=) c.3777G>A (p.Val1259=) c.3615G>A (p.Val1205=) c.3648G>A (p.Val1216=) | |
3 | g.38566473A>C | CA352149096 | SCN5A | c.3773T>G (p.Val1258Gly) c.3776T>G (p.Val1259Gly) c.3614T>G (p.Val1205Gly) c.3647T>G (p.Val1216Gly) | |
3 | g.38566473A>G | CA352149099 | SCN5A | c.3773T>C (p.Val1258Ala) c.3776T>C (p.Val1259Ala) c.3614T>C (p.Val1205Ala) c.3647T>C (p.Val1216Ala) | |
3 | g.38566473A>T | CA352149097 | SCN5A | c.3773T>A (p.Val1258Glu) c.3776T>A (p.Val1259Glu) c.3614T>A (p.Val1205Glu) c.3647T>A (p.Val1216Glu) | |
3 | g.38566474C>A | CA352149102 | SCN5A | c.3772G>T (p.Val1258Leu) c.3775G>T (p.Val1259Leu) c.3613G>T (p.Val1205Leu) c.3646G>T (p.Val1216Leu) | |
3 | g.38566474C>G | CA352149103 | SCN5A | c.3772G>C (p.Val1258Leu) c.3775G>C (p.Val1259Leu) c.3613G>C (p.Val1205Leu) c.3646G>C (p.Val1216Leu) | |
3 | g.38566474C>T | CA352149104 | SCN5A | c.3772G>A (p.Val1258Met) c.3775G>A (p.Val1259Met) c.3613G>A (p.Val1205Met) c.3646G>A (p.Val1216Met) | |
3 | g.38566475C>A | CA352149106 | SCN5A | c.3771G>T (p.Trp1257Cys) c.3774G>T (p.Trp1258Cys) c.3612G>T (p.Trp1204Cys) c.3645G>T (p.Trp1215Cys) | COSMIC COSMIC COSMIC |
3 | g.38566475C= | CA1358569574 | SCN5A | c.3771G= (p.Trp1257=) c.3774G= (p.Trp1258=) c.3612G= (p.Trp1204=) c.3645G= (p.Trp1215=) | |
3 | g.38566475C>G | CA352149108 | SCN5A | c.3771G>C (p.Trp1257Cys) c.3774G>C (p.Trp1258Cys) c.3612G>C (p.Trp1204Cys) c.3645G>C (p.Trp1215Cys) | |
3 | g.38566475C>T | CA352149110 | SCN5A | c.3771G>A (p.Trp1257Ter) c.3774G>A (p.Trp1258Ter) c.3612G>A (p.Trp1204Ter) c.3645G>A (p.Trp1215Ter) | dbSNP COSMIC COSMIC COSMIC |
3 | g.38566476C>A | CA352149115 | SCN5A | c.3770G>T (p.Trp1257Leu) c.3773G>T (p.Trp1258Leu) c.3611G>T (p.Trp1204Leu) c.3644G>T (p.Trp1215Leu) | |
3 | g.38566476C>G | CA352149113 | SCN5A | c.3770G>C (p.Trp1257Ser) c.3773G>C (p.Trp1258Ser) c.3611G>C (p.Trp1204Ser) c.3644G>C (p.Trp1215Ser) | gnomAD v4 |
3 | g.38566476C>T | CA352149114 | SCN5A | c.3770G>A (p.Trp1257Ter) c.3773G>A (p.Trp1258Ter) c.3611G>A (p.Trp1204Ter) c.3644G>A (p.Trp1215Ter) | |
3 | g.38566477A>C | CA352149117 | SCN5A | c.3769T>G (p.Trp1257Gly) c.3772T>G (p.Trp1258Gly) c.3610T>G (p.Trp1204Gly) c.3643T>G (p.Trp1215Gly) | |
3 | g.38566477A>G | CA352149119 | SCN5A | c.3769T>C (p.Trp1257Arg) c.3772T>C (p.Trp1258Arg) c.3610T>C (p.Trp1204Arg) c.3643T>C (p.Trp1215Arg) | |
3 | g.38566477A>T | CA352149120 | SCN5A | c.3769T>A (p.Trp1257Arg) c.3772T>A (p.Trp1258Arg) c.3610T>A (p.Trp1204Arg) c.3643T>A (p.Trp1215Arg) | gnomAD v4 |
3 | g.38566478C>A | CA352149123 | SCN5A | c.3768G>T (p.Lys1256Asn) c.3771G>T (p.Lys1257Asn) c.3609G>T (p.Lys1203Asn) c.3642G>T (p.Lys1214Asn) | |
3 | g.38566478C>G | CA352149125 | SCN5A | c.3768G>C (p.Lys1256Asn) c.3771G>C (p.Lys1257Asn) c.3609G>C (p.Lys1203Asn) c.3642G>C (p.Lys1214Asn) | |
3 | g.38566478C>T | CA433136767 | SCN5A | c.3768G>A (p.Lys1256=) c.3771G>A (p.Lys1257=) c.3609G>A (p.Lys1203=) c.3642G>A (p.Lys1214=) | gnomAD v4 |
3 | g.38566479T>A | CA352149128 | SCN5A | c.3767A>T (p.Lys1256Met) c.3770A>T (p.Lys1257Met) c.3608A>T (p.Lys1203Met) c.3641A>T (p.Lys1214Met) | |
3 | g.38566479T>C | CA352149131 | SCN5A | c.3767A>G (p.Lys1256Arg) c.3770A>G (p.Lys1257Arg) c.3608A>G (p.Lys1203Arg) c.3641A>G (p.Lys1214Arg) | |
3 | g.38566479T>G | CA352149129 | SCN5A | c.3767A>C (p.Lys1256Thr) c.3770A>C (p.Lys1257Thr) c.3608A>C (p.Lys1203Thr) c.3641A>C (p.Lys1214Thr) | |
3 | g.38566480T>A | CA352149134 | SCN5A | c.3766A>T (p.Lys1256Ter) c.3769A>T (p.Lys1257Ter) c.3607A>T (p.Lys1203Ter) c.3640A>T (p.Lys1214Ter) | dbSNP |
3 | g.38566480T>C | CA352149135 | SCN5A | c.3766A>G (p.Lys1256Glu) c.3769A>G (p.Lys1257Glu) c.3607A>G (p.Lys1203Glu) c.3640A>G (p.Lys1214Glu) | |
3 | g.38566480T>G | CA352149137 | SCN5A | c.3766A>C (p.Lys1256Gln) c.3769A>C (p.Lys1257Gln) c.3607A>C (p.Lys1203Gln) c.3640A>C (p.Lys1214Gln) | gnomAD v4 |
3 | g.38566480T= | CA1358569578 | SCN5A | c.3766A= (p.Lys1256=) c.3769A= (p.Lys1257=) c.3607A= (p.Lys1203=) c.3640A= (p.Lys1214=) | |
3 | g.38566481G>A | CA433136773 | SCN5A | c.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 |
3 | g.38566481G>C | CA433136774 | SCN5A | c.3765C>G (p.Leu1255=) c.3768C>G (p.Leu1256=) c.3606C>G (p.Leu1202=) c.3639C>G (p.Leu1213=) | |
3 | g.38566481G= | CA1358569584 | SCN5A | c.3765C= (p.Leu1255=) c.3768C= (p.Leu1256=) c.3606C= (p.Leu1202=) c.3639C= (p.Leu1213=) | |
3 | g.38566481G>T | CA062265 | SCN5A | c.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 |
3 | g.38566482A>C | CA352149140 | SCN5A | c.3764T>G (p.Leu1255Arg) c.3767T>G (p.Leu1256Arg) c.3605T>G (p.Leu1202Arg) c.3638T>G (p.Leu1213Arg) | |
3 | g.38566482A>G | CA352149142 | SCN5A | c.3764T>C (p.Leu1255Pro) c.3767T>C (p.Leu1256Pro) c.3605T>C (p.Leu1202Pro) c.3638T>C (p.Leu1213Pro) | gnomAD v4 |
3 | g.38566482A>T | CA352149144 | SCN5A | c.3764T>A (p.Leu1255His) c.3767T>A (p.Leu1256His) c.3605T>A (p.Leu1202His) c.3638T>A (p.Leu1213His) | |
3 | g.38566483G>A | CA352149146 | SCN5A | c.3763C>T (p.Leu1255Phe) c.3766C>T (p.Leu1256Phe) c.3604C>T (p.Leu1202Phe) c.3637C>T (p.Leu1213Phe) | gnomAD v4 |
3 | g.38566483G>C | CA352149148 | SCN5A | c.3763C>G (p.Leu1255Val) c.3766C>G (p.Leu1256Val) c.3604C>G (p.Leu1202Val) c.3637C>G (p.Leu1213Val) | |
3 | g.38566483G>T | CA352149150 | SCN5A | c.3763C>A (p.Leu1255Ile) c.3766C>A (p.Leu1256Ile) c.3604C>A (p.Leu1202Ile) c.3637C>A (p.Leu1213Ile) | |
3 | g.38566484del | CA2499216737 | SCN5A | c.3762del (p.Leu1255SerfsTer24) c.3765del (p.Leu1256SerfsTer24) c.3603del (p.Leu1202SerfsTer24) c.3636del (p.Leu1213SerfsTer24) | ClinVar dbSNP |
3 | g.38566484C>A | CA433136783 | SCN5A | c.3762G>T (p.Leu1254=) c.3765G>T (p.Leu1255=) c.3603G>T (p.Leu1201=) c.3636G>T (p.Leu1212=) | |
3 | g.38566484C= | CA1358569590 | SCN5A | c.3762G= (p.Leu1254=) c.3765G= (p.Leu1255=) c.3603G= (p.Leu1201=) c.3636G= (p.Leu1212=) | |
3 | g.38566484C>G | CA433136782 | SCN5A | c.3762G>C (p.Leu1254=) c.3765G>C (p.Leu1255=) c.3603G>C (p.Leu1201=) c.3636G>C (p.Leu1212=) | |
3 | g.38566484C>T | CA433136779 | SCN5A | c.3762G>A (p.Leu1254=) c.3765G>A (p.Leu1255=) c.3603G>A (p.Leu1201=) c.3636G>A (p.Leu1212=) | dbSNP |
3 | g.38566485A>C | CA352149153 | SCN5A | c.3761T>G (p.Leu1254Arg) c.3764T>G (p.Leu1255Arg) c.3602T>G (p.Leu1201Arg) c.3635T>G (p.Leu1212Arg) | |
3 | g.38566485A>G | CA352149156 | SCN5A | c.3761T>C (p.Leu1254Pro) c.3764T>C (p.Leu1255Pro) c.3602T>C (p.Leu1201Pro) c.3635T>C (p.Leu1212Pro) | gnomAD v4 |
3 | g.38566485A>T | CA352149155 | SCN5A | c.3761T>A (p.Leu1254Gln) c.3764T>A (p.Leu1255Gln) c.3602T>A (p.Leu1201Gln) c.3635T>A (p.Leu1212Gln) | |
3 | g.38566486G>A | CA433136786 | SCN5A | c.3760C>T (p.Leu1254=) c.3763C>T (p.Leu1255=) c.3601C>T (p.Leu1201=) c.3634C>T (p.Leu1212=) | |
3 | g.38566486G>C | CA352149158 | SCN5A | c.3760C>G (p.Leu1254Val) c.3763C>G (p.Leu1255Val) c.3601C>G (p.Leu1201Val) c.3634C>G (p.Leu1212Val) | |
3 | g.38566486G= | CA1358569595 | SCN5A | c.3760C= (p.Leu1254=) c.3763C= (p.Leu1255=) c.3601C= (p.Leu1201=) c.3634C= (p.Leu1212=) | |
3 | g.38566486G>T | CA062259 | SCN5A | c.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 |
3 | g.38566487C>A | CA352149162 | SCN5A | c.3759G>T (p.Met1253Ile) c.3762G>T (p.Met1254Ile) c.3600G>T (p.Met1200Ile) c.3633G>T (p.Met1211Ile) | |
3 | g.38566487C>G | CA352149163 | SCN5A | c.3759G>C (p.Met1253Ile) c.3762G>C (p.Met1254Ile) c.3600G>C (p.Met1200Ile) c.3633G>C (p.Met1211Ile) | |
3 | g.38566487C>T | CA352149164 | SCN5A | c.3759G>A (p.Met1253Ile) c.3762G>A (p.Met1254Ile) c.3600G>A (p.Met1200Ile) c.3633G>A (p.Met1211Ile) | |
3 | g.38566488del | CA2499216738 | SCN5A | c.3758del (p.Met1253SerfsTer26) c.3761del (p.Met1254SerfsTer26) c.3599del (p.Met1200SerfsTer26) c.3632del (p.Met1211SerfsTer26) | ClinVar dbSNP |
3 | g.38566488A= | CA1358569599 | SCN5A | c.3758T= (p.Met1253=) c.3761T= (p.Met1254=) c.3599T= (p.Met1200=) c.3632T= (p.Met1211=) | |
3 | g.38566488A>C | CA352149165 | SCN5A | c.3758T>G (p.Met1253Arg) c.3761T>G (p.Met1254Arg) c.3599T>G (p.Met1200Arg) c.3632T>G (p.Met1211Arg) | |
3 | g.38566488A>G | CA352149166 | SCN5A | c.3758T>C (p.Met1253Thr) c.3761T>C (p.Met1254Thr) c.3599T>C (p.Met1200Thr) c.3632T>C (p.Met1211Thr) | |
3 | g.38566488A>T | CA352149167 | SCN5A | c.3758T>A (p.Met1253Lys) c.3761T>A (p.Met1254Lys) c.3599T>A (p.Met1200Lys) c.3632T>A (p.Met1211Lys) | ClinVar dbSNP |
3 | g.38566489T>A | CA352149168 | SCN5A | c.3757A>T (p.Met1253Leu) c.3760A>T (p.Met1254Leu) c.3598A>T (p.Met1200Leu) c.3631A>T (p.Met1211Leu) | |
3 | g.38566489T>C | CA352149169 | SCN5A | c.3757A>G (p.Met1253Val) c.3760A>G (p.Met1254Val) c.3598A>G (p.Met1200Val) c.3631A>G (p.Met1211Val) | |
3 | g.38566489T>G | CA352149170 | SCN5A | c.3757A>C (p.Met1253Leu) c.3760A>C (p.Met1254Leu) c.3598A>C (p.Met1200Leu) c.3631A>C (p.Met1211Leu) |