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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38608022_38608117del | CA2755900788 | SCN5A | c.998+43_998+138del (n.998+43_998+138del) c.869+43_869+138del (n.869+43_869+138del) | |
| 3 | g.38608113del | CA2665115751 | SCN5A | c.998+39del (n.998+39del) c.869+39del (n.869+39del) | gnomAD v4 |
| 3 | g.38608113G>A | CA72941039 | SCN5A | c.998+38C>T (n.998+38C>T) c.869+38C>T (n.869+38C>T) | dbSNP gnomAD v4 |
| 3 | g.38608113G= | CA1358586913 | SCN5A | c.998+38C= (n.998+38C=) c.869+38C= (n.869+38C=) | |
| 3 | g.38608113G>T | CA066042 | SCN5A | c.998+38C>A (n.998+38C>A) c.869+38C>A (n.869+38C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608114C>T | CA2577553534 | SCN5A | c.998+37G>A (n.998+37G>A) c.869+37G>A (n.869+37G>A) | gnomAD v4 |
| 3 | g.38608115A>G | CA2665115752 | SCN5A | c.998+36T>C (n.998+36T>C) c.869+36T>C (n.869+36T>C) | gnomAD v4 |
| 3 | g.38608115A>T | CA2665115753 | SCN5A | c.998+36T>A (n.998+36T>A) c.869+36T>A (n.869+36T>A) | gnomAD v4 |
| 3 | g.38608116G>A | CA542273740 | SCN5A | c.998+35C>T (n.998+35C>T) c.869+35C>T (n.869+35C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38608116G= | CA1358586914 | SCN5A | c.998+35C= (n.998+35C=) c.869+35C= (n.869+35C=) | |
| 3 | g.38608116G>T | CA2665115754 | SCN5A | c.998+35C>A (n.998+35C>A) c.869+35C>A (n.869+35C>A) | gnomAD v4 |
| 3 | g.38608117G>A | CA2665115756 | SCN5A | c.998+34C>T (n.998+34C>T) c.869+34C>T (n.869+34C>T) | gnomAD v4 |
| 3 | g.38608117G>C | CA906898048 | SCN5A | c.998+34C>G (n.998+34C>G) c.869+34C>G (n.869+34C>G) | dbSNP |
| 3 | g.38608117G= | CA1358586915 | SCN5A | c.998+34C= (n.998+34C=) c.869+34C= (n.869+34C=) | |
| 3 | g.38608117G>T | CA2665115755 | SCN5A | c.998+34C>A (n.998+34C>A) c.869+34C>A (n.869+34C>A) | gnomAD v4 |
| 3 | g.38608118A>C | CA2665115757 | SCN5A | c.998+33T>G (n.998+33T>G) c.869+33T>G (n.869+33T>G) | gnomAD v4 |
| 3 | g.38608118A>G | CA2665115758 | SCN5A | c.998+33T>C (n.998+33T>C) c.869+33T>C (n.869+33T>C) | dbSNP gnomAD v4 |
| 3 | g.38608118A>T | CA2665115759 | SCN5A | c.998+33T>A (n.998+33T>A) c.869+33T>A (n.869+33T>A) | gnomAD v4 |
| 3 | g.38608119C>A | CA542273741 | SCN5A | c.998+32G>T (n.998+32G>T) c.869+32G>T (n.869+32G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38608119C= | CA1358586916 | SCN5A | c.998+32G= (n.998+32G=) c.869+32G= (n.869+32G=) | |
| 3 | g.38608119C>T | CA2665115760 | SCN5A | c.998+32G>A (n.998+32G>A) c.869+32G>A (n.869+32G>A) | gnomAD v4 |
| 3 | g.38608120A= | CA1358586917 | SCN5A | c.998+31T= (n.998+31T=) c.869+31T= (n.869+31T=) | |
| 3 | g.38608120A>G | CA2665115762 | SCN5A | c.998+31T>C (n.998+31T>C) c.869+31T>C (n.869+31T>C) | gnomAD v4 |
| 3 | g.38608120A>T | CA542273742 | SCN5A | c.998+31T>A (n.998+31T>A) c.869+31T>A (n.869+31T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38608121del | CA2665115761 | SCN5A | c.998+31del (n.998+31del) c.869+31del (n.869+31del) | gnomAD v4 |
| 3 | g.38608121A>G | CA2665115763 | SCN5A | c.998+30T>C (n.998+30T>C) c.869+30T>C (n.869+30T>C) | gnomAD v4 |
| 3 | g.38608121A>T | CA2665115764 | SCN5A | c.998+30T>A (n.998+30T>A) c.869+30T>A (n.869+30T>A) | gnomAD v4 |
| 3 | g.38608121_38608130delinsAGGAGACCCG | CA1358586918 | SCN5A | c.998+21_998+30delinsCGGGTCTCCT (n.998+21_998+30delinsCGGGTCTCCT) c.869+21_869+30delinsCGGGTCTCCT (n.869+21_869+30delinsCGGGTCTCCT) | |
| 3 | g.38608122G>A | CA2665115765 | SCN5A | c.998+29C>T (n.998+29C>T) c.869+29C>T (n.869+29C>T) | gnomAD v4 |
| 3 | g.38608122G>T | CA2665115766 | SCN5A | c.998+29C>A (n.998+29C>A) c.869+29C>A (n.869+29C>A) | gnomAD v4 |
| 3 | g.38608124_38608132del | CA542273743 | SCN5A | c.998+21_998+29del (n.998+21_998+29del) c.869+21_869+29del (n.869+21_869+29del) | dbSNP gnomAD v2 |
| 3 | g.38608123G>A | CA066038 | SCN5A | c.998+28C>T (n.998+28C>T) c.869+28C>T (n.869+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608123G= | CA1358586919 | SCN5A | c.998+28C= (n.998+28C=) c.869+28C= (n.869+28C=) | |
| 3 | g.38608123G>T | CA2665115767 | SCN5A | c.998+28C>A (n.998+28C>A) c.869+28C>A (n.869+28C>A) | gnomAD v4 |
| 3 | g.38608124A>G | CA2665115768 | SCN5A | c.998+27T>C (n.998+27T>C) c.869+27T>C (n.869+27T>C) | gnomAD v4 |
| 3 | g.38608124A>T | CA2665115769 | SCN5A | c.998+27T>A (n.998+27T>A) c.869+27T>A (n.869+27T>A) | gnomAD v4 |
| 3 | g.38608125G>A | CA2665115770 | SCN5A | c.998+26C>T (n.998+26C>T) c.869+26C>T (n.869+26C>T) | gnomAD v4 |
| 3 | g.38608125G>C | CA2665115771 | SCN5A | c.998+26C>G (n.998+26C>G) c.869+26C>G (n.869+26C>G) | gnomAD v4 |
| 3 | g.38608125G>T | CA2665115772 | SCN5A | c.998+26C>A (n.998+26C>A) c.869+26C>A (n.869+26C>A) | gnomAD v4 |
| 3 | g.38608126A>C | CA2665115773 | SCN5A | c.998+25T>G (n.998+25T>G) c.869+25T>G (n.869+25T>G) | gnomAD v4 |
| 3 | g.38608126A>G | CA2665115774 | SCN5A | c.998+25T>C (n.998+25T>C) c.869+25T>C (n.869+25T>C) | gnomAD v4 |
| 3 | g.38608126A>T | CA2665115775 | SCN5A | c.998+25T>A (n.998+25T>A) c.869+25T>A (n.869+25T>A) | gnomAD v4 |
| 3 | g.38608127C>G | CA2665115776 | SCN5A | c.998+24G>C (n.998+24G>C) c.869+24G>C (n.869+24G>C) | gnomAD v4 |
| 3 | g.38608127C>T | CA2665115777 | SCN5A | c.998+24G>A (n.998+24G>A) c.869+24G>A (n.869+24G>A) | gnomAD v4 |
| 3 | g.38608128C= | CA1358586920 | SCN5A | c.998+23G= (n.998+23G=) c.869+23G= (n.869+23G=) | |
| 3 | g.38608128C>G | CA2665115778 | SCN5A | c.998+23G>C (n.998+23G>C) c.869+23G>C (n.869+23G>C) | gnomAD v4 |
| 3 | g.38608128C>T | CA066034 | SCN5A | c.998+23G>A (n.998+23G>A) c.869+23G>A (n.869+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608129C>A | CA2665115779 | SCN5A | c.998+22G>T (n.998+22G>T) c.869+22G>T (n.869+22G>T) | gnomAD v4 |
| 3 | g.38608129C= | CA1358586922 | SCN5A | c.998+22G= (n.998+22G=) c.869+22G= (n.869+22G=) | |
| 3 | g.38608129C>G | CA2755900818 | SCN5A | c.998+22G>C (n.998+22G>C) c.869+22G>C (n.869+22G>C) | |
| 3 | g.38608129C>T | CA72941045 | SCN5A | c.998+22G>A (n.998+22G>A) c.869+22G>A (n.869+22G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608129_38608130delinsCG | CA1358586921 | SCN5A | c.998+21_998+22delinsCG (n.998+21_998+22delinsCG) c.869+21_869+22delinsCG (n.869+21_869+22delinsCG) | |
| 3 | g.38608130G>A | CA066028 | SCN5A | c.998+21C>T (n.998+21C>T) c.869+21C>T (n.869+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608130G>C | CA2665115781 | SCN5A | c.998+21C>G (n.998+21C>G) c.869+21C>G (n.869+21C>G) | gnomAD v4 |
| 3 | g.38608130G= | CA1358586924 | SCN5A | c.998+21C= (n.998+21C=) c.869+21C= (n.869+21C=) | |
| 3 | g.38608130G>T | CA2665115780 | SCN5A | c.998+21C>A (n.998+21C>A) c.869+21C>A (n.869+21C>A) | gnomAD v4 |
| 3 | g.38608133del | CA1358586923 | SCN5A | c.998+21del (n.998+21del) c.869+21del (n.869+21del) | dbSNP gnomAD v4 |
| 3 | g.38608131G>A | CA2665115782 | SCN5A | c.998+20C>T (n.998+20C>T) c.869+20C>T (n.869+20C>T) | gnomAD v4 |
| 3 | g.38608131G= | CA1358586925 | SCN5A | c.998+20C= (n.998+20C=) c.869+20C= (n.869+20C=) | |
| 3 | g.38608131G>T | CA066025 | SCN5A | c.998+20C>A (n.998+20C>A) c.869+20C>A (n.869+20C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38608132G>A | CA2665115783 | SCN5A | c.998+19C>T (n.998+19C>T) c.869+19C>T (n.869+19C>T) | gnomAD v4 |
| 3 | g.38608132G>T | CA2665115784 | SCN5A | c.998+19C>A (n.998+19C>A) c.869+19C>A (n.869+19C>A) | gnomAD v4 |
| 3 | g.38608133G>A | CA72941050 | SCN5A | c.998+18C>T (n.998+18C>T) c.869+18C>T (n.869+18C>T) | ClinVar dbSNP |
| 3 | g.38608133G>C | CA2665115785 | SCN5A | c.998+18C>G (n.998+18C>G) c.869+18C>G (n.869+18C>G) | gnomAD v4 |
| 3 | g.38608133G= | CA1358586926 | SCN5A | c.998+18C= (n.998+18C=) c.869+18C= (n.869+18C=) | |
| 3 | g.38608133G>T | CA1046997363 | SCN5A | c.998+18C>A (n.998+18C>A) c.869+18C>A (n.869+18C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38608134T>C | CA2665115787 | SCN5A | c.998+17A>G (n.998+17A>G) c.869+17A>G (n.869+17A>G) | gnomAD v4 |
| 3 | g.38608134T>G | CA1358586927 | SCN5A | c.998+17A>C (n.998+17A>C) c.869+17A>C (n.869+17A>C) | dbSNP |
| 3 | g.38608134T= | CA1358586928 | SCN5A | c.998+17A= (n.998+17A=) c.869+17A= (n.869+17A=) | |
| 3 | g.38608134dup | CA2665115786 | SCN5A | c.998+17dup (n.998+17dup) c.869+17dup (n.869+17dup) | gnomAD v4 |
| 3 | g.38608135G>A | CA542273744 | SCN5A | c.998+16C>T (n.998+16C>T) c.869+16C>T (n.869+16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38608135G= | CA1358586929 | SCN5A | c.998+16C= (n.998+16C=) c.869+16C= (n.869+16C=) | |
| 3 | g.38608135G>T | CA1358586930 | SCN5A | c.998+16C>A (n.998+16C>A) c.869+16C>A (n.869+16C>A) | dbSNP gnomAD v4 |
| 3 | g.38608136del | CA2577553535 | SCN5A | c.998+16del (n.998+16del) c.869+16del (n.869+16del) | gnomAD v4 |
| 3 | g.38608136G>A | CA2665115788 | SCN5A | c.998+15C>T (n.998+15C>T) c.869+15C>T (n.869+15C>T) | gnomAD v4 |
| 3 | g.38608136G>T | CA2665115789 | SCN5A | c.998+15C>A (n.998+15C>A) c.869+15C>A (n.869+15C>A) | gnomAD v4 |
| 3 | g.38608137del | CA2577553536 | SCN5A | c.998+14del (n.998+14del) c.869+14del (n.869+14del) | |
| 3 | g.38608137T>A | CA2665115791 | SCN5A | c.998+14A>T (n.998+14A>T) c.869+14A>T (n.869+14A>T) | gnomAD v4 |
| 3 | g.38608137T>C | CA2665115790 | SCN5A | c.998+14A>G (n.998+14A>G) c.869+14A>G (n.869+14A>G) | gnomAD v4 |
| 3 | g.38608138del | CA2665115792 | SCN5A | c.998+13del (n.998+13del) c.869+13del (n.869+13del) | gnomAD v4 |
| 3 | g.38608138A>G | CA2665115793 | SCN5A | c.998+13T>C (n.998+13T>C) c.869+13T>C (n.869+13T>C) | ClinVar gnomAD v4 |
| 3 | g.38608138A>T | CA2665115794 | SCN5A | c.998+13T>A (n.998+13T>A) c.869+13T>A (n.869+13T>A) | gnomAD v4 |
| 3 | g.38608138dup | CA2838390419 | SCN5A | c.998+13dup (n.998+13dup) c.869+13dup (n.869+13dup) | |
| 3 | g.38608139G>A | CA1358586932 | SCN5A | c.998+12C>T (n.998+12C>T) c.869+12C>T (n.869+12C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38608139G= | CA1358586931 | SCN5A | c.998+12C= (n.998+12C=) c.869+12C= (n.869+12C=) | |
| 3 | g.38608139G>T | CA2577553537 | SCN5A | c.998+12C>A (n.998+12C>A) c.869+12C>A (n.869+12C>A) | gnomAD v4 |
| 3 | g.38608140G>A | CA2573136286 | SCN5A | c.998+11C>T (n.998+11C>T) c.869+11C>T (n.869+11C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38608140G>T | CA2665115795 | SCN5A | c.998+11C>A (n.998+11C>A) c.869+11C>A (n.869+11C>A) | gnomAD v4 |
| 3 | g.38608141T>C | CA2577553538 | SCN5A | c.998+10A>G (n.998+10A>G) c.869+10A>G (n.869+10A>G) | ClinVar gnomAD v4 |
| 3 | g.38608141T>G | CA1358586934 | SCN5A | c.998+10A>C (n.998+10A>C) c.869+10A>C (n.869+10A>C) | dbSNP |
| 3 | g.38608141T= | CA1358586933 | SCN5A | c.998+10A= (n.998+10A=) c.869+10A= (n.869+10A=) | |
| 3 | g.38608142G>A | CA066050 | SCN5A | c.998+9C>T (n.998+9C>T) c.869+9C>T (n.869+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38608142G= | CA1358586935 | SCN5A | c.998+9C= (n.998+9C=) c.869+9C= (n.869+9C=) | |
| 3 | g.38608142G>T | CA2665115796 | SCN5A | c.998+9C>A (n.998+9C>A) c.869+9C>A (n.869+9C>A) | gnomAD v4 |
| 3 | g.38608143C>G | CA2577553539 | SCN5A | c.998+8G>C (n.998+8G>C) c.869+8G>C (n.869+8G>C) | gnomAD v4 |
| 3 | g.38608143C>T | CA2580069750 | SCN5A | c.998+8G>A (n.998+8G>A) c.869+8G>A (n.869+8G>A) | ClinVar gnomAD v4 |
| 3 | g.38608144C>T | CA2665115797 | SCN5A | c.998+7G>A (n.998+7G>A) c.869+7G>A (n.869+7G>A) | gnomAD v4 |
| 3 | g.38608145A>T | CA2665115798 | SCN5A | c.998+6T>A (n.998+6T>A) c.869+6T>A (n.869+6T>A) | gnomAD v4 |
| 3 | g.38608146C>A | CA2573102952 | SCN5A | c.998+5G>T (n.998+5G>T) c.869+5G>T (n.869+5G>T) | ClinVar gnomAD v4 |
| 3 | g.38608146C= | CA1358586936 | SCN5A | c.998+5G= (n.998+5G=) c.869+5G= (n.869+5G=) | |
| 3 | g.38608146C>T | CA019970 | SCN5A | c.998+5G>A (n.998+5G>A) c.869+5G>A (n.869+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608147A= | CA1358586937 | SCN5A | c.998+4T= (n.998+4T=) c.869+4T= (n.869+4T=) | |
| 3 | g.38608147A>C | CA2665115799 | SCN5A | c.998+4T>G (n.998+4T>G) c.869+4T>G (n.869+4T>G) | gnomAD v4 |
| 3 | g.38608147A>G | CA066046 | SCN5A | c.998+4T>C (n.998+4T>C) c.869+4T>C (n.869+4T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38608149A= | CA1358586938 | SCN5A | c.998+2T= (n.998+2T=) c.869+2T= (n.869+2T=) | |
| 3 | g.38608149A>C | CA352150023 | SCN5A | c.998+2T>G (n.998+2T>G) c.869+2T>G (n.869+2T>G) | |
| 3 | g.38608149A>G | CA352150021 | SCN5A | c.998+2T>C (n.998+2T>C) c.869+2T>C (n.869+2T>C) | dbSNP |
| 3 | g.38608149A>T | CA352150022 | SCN5A | c.998+2T>A (n.998+2T>A) c.869+2T>A (n.869+2T>A) | dbSNP |
| 3 | g.38608150C>A | CA352150024 | SCN5A | c.998+1G>T (n.998+1G>T) c.869+1G>T (n.869+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38608150C= | CA1358586939 | SCN5A | c.998+1G= (n.998+1G=) c.869+1G= (n.869+1G=) | |
| 3 | g.38608150C>G | CA352150025 | SCN5A | c.998+1G>C (n.998+1G>C) c.869+1G>C (n.869+1G>C) | |
| 3 | g.38608150C>T | CA352150026 | SCN5A | c.998+1G>A (n.998+1G>A) c.869+1G>A (n.869+1G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38608151C>A | CA352150029 | SCN5A | c.998G>T (p.Gly333Val) c.869G>T (p.Gly290Val) | |
| 3 | g.38608151C>G | CA352150028 | SCN5A | c.998G>C (p.Gly333Ala) c.869G>C (p.Gly290Ala) | |
| 3 | g.38608151C>T | CA352150027 | SCN5A | c.998G>A (p.Gly333Glu) c.869G>A (p.Gly290Glu) | |
| 3 | g.38608152C>A | CA352150030 | SCN5A | c.997G>T (p.Gly333Trp) c.868G>T (p.Gly290Trp) | |
| 3 | g.38608152C>G | CA352150031 | SCN5A | c.997G>C (p.Gly333Arg) c.868G>C (p.Gly290Arg) | |
| 3 | g.38608152C>T | CA352150032 | SCN5A | c.997G>A (p.Gly333Arg) c.868G>A (p.Gly290Arg) | |
| 3 | g.38608153A= | CA1358586940 | SCN5A | c.996T= (p.Ala332=) c.867T= (p.Ala289=) | |
| 3 | g.38608153A>C | CA433138045 | SCN5A | c.996T>G (p.Ala332=) c.867T>G (p.Ala289=) | |
| 3 | g.38608153A>G | CA433138046 | SCN5A | c.996T>C (p.Ala332=) c.867T>C (p.Ala289=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38608153A>T | CA433138047 | SCN5A | c.996T>A (p.Ala332=) c.867T>A (p.Ala289=) | gnomAD v4 |
| 3 | g.38608154G>A | CA352150033 | SCN5A | c.995C>T (p.Ala332Val) c.866C>T (p.Ala289Val) | |
| 3 | g.38608154G>C | CA352150034 | SCN5A | c.995C>G (p.Ala332Gly) c.866C>G (p.Ala289Gly) | |
| 3 | g.38608154G>T | CA352150035 | SCN5A | c.995C>A (p.Ala332Asp) c.866C>A (p.Ala289Asp) | gnomAD v4 |
| 3 | g.38608155C>A | CA352150037 | SCN5A | c.994G>T (p.Ala332Ser) c.865G>T (p.Ala289Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38608155C= | CA1358586941 | SCN5A | c.994G= (p.Ala332=) c.865G= (p.Ala289=) | |
| 3 | g.38608155C>G | CA352150036 | SCN5A | c.994G>C (p.Ala332Pro) c.865G>C (p.Ala289Pro) | ClinVar dbSNP |
| 3 | g.38608155C>T | CA066022 | SCN5A | c.994G>A (p.Ala332Thr) c.865G>A (p.Ala289Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608156G>A | CA066017 | SCN5A | c.993C>T (p.Asp331=) c.864C>T (p.Asp288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608156G>C | CA352150038 | SCN5A | c.993C>G (p.Asp331Glu) c.864C>G (p.Asp288Glu) | |
| 3 | g.38608156G= | CA1358586942 | SCN5A | c.993C= (p.Asp331=) c.864C= (p.Asp288=) | |
| 3 | g.38608156G>T | CA352150039 | SCN5A | c.993C>A (p.Asp331Glu) c.864C>A (p.Asp288Glu) | gnomAD v4 |
| 3 | g.38608157T>A | CA352150040 | SCN5A | c.992A>T (p.Asp331Val) c.863A>T (p.Asp288Val) | |
| 3 | g.38608157T>C | CA352150041 | SCN5A | c.992A>G (p.Asp331Gly) c.863A>G (p.Asp288Gly) | gnomAD v4 |
| 3 | g.38608157T>G | CA352150042 | SCN5A | c.992A>C (p.Asp331Ala) c.863A>C (p.Asp288Ala) | |
| 3 | g.38608158C>A | CA352150043 | SCN5A | c.991G>T (p.Asp331Tyr) c.862G>T (p.Asp288Tyr) | |
| 3 | g.38608158C>G | CA352150044 | SCN5A | c.991G>C (p.Asp331His) c.862G>C (p.Asp288His) | |
| 3 | g.38608158C>T | CA352150045 | SCN5A | c.991G>A (p.Asp331Asn) c.862G>A (p.Asp288Asn) | |
| 3 | g.38608159A= | CA1358586943 | SCN5A | c.990T= (p.Ser330=) c.861T= (p.Ser287=) | |
| 3 | g.38608159A>C | CA066012 | SCN5A | c.990T>G (p.Ser330=) c.861T>G (p.Ser287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608159A>G | CA433138055 | SCN5A | c.990T>C (p.Ser330=) c.861T>C (p.Ser287=) | ClinVar |
| 3 | g.38608159A>T | CA433138056 | SCN5A | c.990T>A (p.Ser330=) c.861T>A (p.Ser287=) | |
| 3 | g.38608161_38608162del | CA2577553540 | SCN5A | c.989_990del (p.Ser330Ter) c.860_861del (p.Ser287Ter) | |
| 3 | g.38608160G>A | CA066007 | SCN5A | c.989C>T (p.Ser330Phe) c.860C>T (p.Ser287Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38608160G>C | CA352150046 | SCN5A | c.989C>G (p.Ser330Cys) c.860C>G (p.Ser287Cys) | |
| 3 | g.38608160G= | CA1358586944 | SCN5A | c.989C= (p.Ser330=) c.860C= (p.Ser287=) | |
| 3 | g.38608160G>T | CA352150047 | SCN5A | c.989C>A (p.Ser330Tyr) c.860C>A (p.Ser287Tyr) | gnomAD v4 |
| 3 | g.38608161A= | CA1358586945 | SCN5A | c.988T= (p.Ser330=) c.859T= (p.Ser287=) | |
| 3 | g.38608161A>C | CA352150048 | SCN5A | c.988T>G (p.Ser330Ala) c.859T>G (p.Ser287Ala) | |
| 3 | g.38608161A>G | CA352150049 | SCN5A | c.988T>C (p.Ser330Pro) c.859T>C (p.Ser287Pro) | |
| 3 | g.38608161A>T | CA72941067 | SCN5A | c.988T>A (p.Ser330Thr) c.859T>A (p.Ser287Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38608162G>A | CA433138060 | SCN5A | c.987C>T (p.Ser329=) c.858C>T (p.Ser286=) | ClinVar gnomAD v4 |
| 3 | g.38608162G>C | CA352150050 | SCN5A | c.987C>G (p.Ser329Arg) c.858C>G (p.Ser286Arg) | |
| 3 | g.38608162G>T | CA352150051 | SCN5A | c.987C>A (p.Ser329Arg) c.858C>A (p.Ser286Arg) | gnomAD v4 |
| 3 | g.38608163C>A | CA352150052 | SCN5A | c.986G>T (p.Ser329Ile) c.857G>T (p.Ser286Ile) | gnomAD v4 |
| 3 | g.38608163C>G | CA352150053 | SCN5A | c.986G>C (p.Ser329Thr) c.857G>C (p.Ser286Thr) | |
| 3 | g.38608163C>T | CA352150054 | SCN5A | c.986G>A (p.Ser329Asn) c.857G>A (p.Ser286Asn) | gnomAD v4 |
| 3 | g.38608164T>A | CA352150055 | SCN5A | c.985A>T (p.Ser329Cys) c.856A>T (p.Ser286Cys) | |
| 3 | g.38608164T>C | CA352150056 | SCN5A | c.985A>G (p.Ser329Gly) c.856A>G (p.Ser286Gly) | gnomAD v4 |
| 3 | g.38608164T>G | CA352150057 | SCN5A | c.985A>C (p.Ser329Arg) c.856A>C (p.Ser286Arg) | |
| 3 | g.38608165_38608166del | CA2577553541 | SCN5A | c.984_985del (p.Asn328LysfsTer3) c.855_856del (p.Asn285LysfsTer3) | |
| 3 | g.38608165G>A | CA433138062 | SCN5A | c.984C>T (p.Asn328=) c.855C>T (p.Asn285=) | ClinVar |
| 3 | g.38608165G>C | CA352150058 | SCN5A | c.984C>G (p.Asn328Lys) c.855C>G (p.Asn285Lys) | |
| 3 | g.38608165G>T | CA352150059 | SCN5A | c.984C>A (p.Asn328Lys) c.855C>A (p.Asn285Lys) | gnomAD v4 |
| 3 | g.38608166T>A | CA352150060 | SCN5A | c.983A>T (p.Asn328Ile) c.854A>T (p.Asn285Ile) | |
| 3 | g.38608166T>C | CA352150061 | SCN5A | c.983A>G (p.Asn328Ser) c.854A>G (p.Asn285Ser) | |
| 3 | g.38608166T>G | CA352150062 | SCN5A | c.983A>C (p.Asn328Thr) c.854A>C (p.Asn285Thr) | |
| 3 | g.38608167T>A | CA352150065 | SCN5A | c.982A>T (p.Asn328Tyr) c.853A>T (p.Asn285Tyr) | |
| 3 | g.38608167T>C | CA352150063 | SCN5A | c.982A>G (p.Asn328Asp) c.853A>G (p.Asn285Asp) | |
| 3 | g.38608167T>G | CA352150064 | SCN5A | c.982A>C (p.Asn328His) c.853A>C (p.Asn285His) | |
| 3 | g.38608168C>A | CA433138065 | SCN5A | c.981G>T (p.Gly327=) c.852G>T (p.Gly284=) | |
| 3 | g.38608168C>G | CA433138067 | SCN5A | c.981G>C (p.Gly327=) c.852G>C (p.Gly284=) | gnomAD v4 |
| 3 | g.38608168C>T | CA433138066 | SCN5A | c.981G>A (p.Gly327=) c.852G>A (p.Gly284=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38608170del | CA2665115800 | SCN5A | c.981del (p.Asn328ThrfsTer15) c.852del (p.Asn285ThrfsTer15) | gnomAD v4 |
| 3 | g.38608169C>A | CA352150066 | SCN5A | c.980G>T (p.Gly327Val) c.851G>T (p.Gly284Val) | |
| 3 | g.38608169C>G | CA352150067 | SCN5A | c.980G>C (p.Gly327Ala) c.851G>C (p.Gly284Ala) | |
| 3 | g.38608169C>T | CA352150068 | SCN5A | c.980G>A (p.Gly327Glu) c.851G>A (p.Gly284Glu) | |
| 3 | g.38608170C>A | CA352150069 | SCN5A | c.979G>T (p.Gly327Trp) c.850G>T (p.Gly284Trp) | |
| 3 | g.38608170C>G | CA352150070 | SCN5A | c.979G>C (p.Gly327Arg) c.850G>C (p.Gly284Arg) | |
| 3 | g.38608170C>T | CA352150071 | SCN5A | c.979G>A (p.Gly327Arg) c.850G>A (p.Gly284Arg) | |
| 3 | g.38608171A= | CA1358586946 | SCN5A | c.978T= (p.Cys326=) c.849T= (p.Cys283=) | |
| 3 | g.38608171A>C | CA352150072 | SCN5A | c.978T>G (p.Cys326Trp) c.849T>G (p.Cys283Trp) | |
| 3 | g.38608171A>G | CA433138069 | SCN5A | c.978T>C (p.Cys326=) c.849T>C (p.Cys283=) | |
| 3 | g.38608171A>T | CA352150073 | SCN5A | c.978T>A (p.Cys326Ter) c.849T>A (p.Cys283Ter) | dbSNP |
| 3 | g.38608172C>A | CA352150074 | SCN5A | c.977G>T (p.Cys326Phe) c.848G>T (p.Cys283Phe) | |
| 3 | g.38608172C= | CA1358586947 | SCN5A | c.977G= (p.Cys326=) c.848G= (p.Cys283=) | |
| 3 | g.38608172C>G | CA352150075 | SCN5A | c.977G>C (p.Cys326Ser) c.848G>C (p.Cys283Ser) | |
| 3 | g.38608172C>T | CA352150076 | SCN5A | c.977G>A (p.Cys326Tyr) c.848G>A (p.Cys283Tyr) | ClinVar dbSNP |
| 3 | g.38608173A>C | CA352150077 | SCN5A | c.976T>G (p.Cys326Gly) c.847T>G (p.Cys283Gly) | |
| 3 | g.38608173A>G | CA352150079 | SCN5A | c.976T>C (p.Cys326Arg) c.847T>C (p.Cys283Arg) | |
| 3 | g.38608173A>T | CA352150078 | SCN5A | c.976T>A (p.Cys326Ser) c.847T>A (p.Cys283Ser) | |
| 3 | g.38608174C>A | CA433138071 | SCN5A | c.975G>T (p.Leu325=) c.846G>T (p.Leu282=) | |
| 3 | g.38608174C= | CA1358586948 | SCN5A | c.975G= (p.Leu325=) c.846G= (p.Leu282=) | |
| 3 | g.38608174C>G | CA066003 | SCN5A | c.975G>C (p.Leu325=) c.846G>C (p.Leu282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38608174C>T | CA72941070 | SCN5A | c.975G>A (p.Leu325=) c.846G>A (p.Leu282=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38608175A= | CA1358586949 | SCN5A | c.974T= (p.Leu325=) c.845T= (p.Leu282=) | |
| 3 | g.38608175A>C | CA019964 | SCN5A | c.974T>G (p.Leu325Arg) c.845T>G (p.Leu282Arg) | ClinVar dbSNP |
| 3 | g.38608175A>G | CA352150080 | SCN5A | c.974T>C (p.Leu325Pro) c.845T>C (p.Leu282Pro) | |
| 3 | g.38608175A>T | CA352150081 | SCN5A | c.974T>A (p.Leu325Gln) c.845T>A (p.Leu282Gln) | |
| 3 | g.38608176G>A | CA433138072 | SCN5A | c.973C>T (p.Leu325=) c.844C>T (p.Leu282=) | |
| 3 | g.38608176G>C | CA352150082 | SCN5A | c.973C>G (p.Leu325Val) c.844C>G (p.Leu282Val) | |
| 3 | g.38608176G>T | CA352150083 | SCN5A | c.973C>A (p.Leu325Met) c.844C>A (p.Leu282Met) | gnomAD v4 |
| 3 | g.38608177T>A | CA352150084 | SCN5A | c.972A>T (p.Leu324Phe) c.843A>T (p.Leu281Phe) | |
| 3 | g.38608177T>C | CA433138073 | SCN5A | c.972A>G (p.Leu324=) c.843A>G (p.Leu281=) | |
| 3 | g.38608177T>G | CA352150085 | SCN5A | c.972A>C (p.Leu324Phe) c.843A>C (p.Leu281Phe) | |
| 3 | g.38608178A>C | CA352150086 | SCN5A | c.971T>G (p.Leu324Ter) c.842T>G (p.Leu281Ter) | |
| 3 | g.38608178A>G | CA352150087 | SCN5A | c.971T>C (p.Leu324Ser) c.842T>C (p.Leu281Ser) | |
| 3 | g.38608178A>T | CA352150088 | SCN5A | c.971T>A (p.Leu324Ter) c.842T>A (p.Leu281Ter) | |
| 3 | g.38608179A>C | CA352150089 | SCN5A | c.970T>G (p.Leu324Val) c.841T>G (p.Leu281Val) | |
| 3 | g.38608179A>G | CA433138074 | SCN5A | c.970T>C (p.Leu324=) c.841T>C (p.Leu281=) | |
| 3 | g.38608179A>T | CA352150090 | SCN5A | c.970T>A (p.Leu324Ile) c.841T>A (p.Leu281Ile) | |
| 3 | g.38608180C>A | CA433138075 | SCN5A | c.969G>T (p.Val323=) c.840G>T (p.Val280=) | |
| 3 | g.38608180C>G | CA433138076 | SCN5A | c.969G>C (p.Val323=) c.840G>C (p.Val280=) | |
| 3 | g.38608180C>T | CA433138077 | SCN5A | c.969G>A (p.Val323=) c.840G>A (p.Val280=) | gnomAD v4 |
| 3 | g.38608181A>C | CA352150091 | SCN5A | c.968T>G (p.Val323Gly) c.839T>G (p.Val280Gly) | |
| 3 | g.38608181A>G | CA352150092 | SCN5A | c.968T>C (p.Val323Ala) c.839T>C (p.Val280Ala) | |
| 3 | g.38608181A>T | CA352150094 | SCN5A | c.968T>A (p.Val323Glu) c.839T>A (p.Val280Glu) | |
| 3 | g.38608182C>A | CA352150097 | SCN5A | c.967G>T (p.Val323Leu) c.838G>T (p.Val280Leu) | |
| 3 | g.38608182C>G | CA352150099 | SCN5A | c.967G>C (p.Val323Leu) c.838G>C (p.Val280Leu) | |
| 3 | g.38608182C>T | CA352150101 | SCN5A | c.967G>A (p.Val323Met) c.838G>A (p.Val280Met) | |
| 3 | g.38608183A= | CA1358586950 | SCN5A | c.966T= (p.Asp322=) c.837T= (p.Asp279=) | |
| 3 | g.38608183A>C | CA352150103 | SCN5A | c.966T>G (p.Asp322Glu) c.837T>G (p.Asp279Glu) | |
| 3 | g.38608183A>G | CA433138080 | SCN5A | c.966T>C (p.Asp322=) c.837T>C (p.Asp279=) | dbSNP |
| 3 | g.38608183A>T | CA352150105 | SCN5A | c.966T>A (p.Asp322Glu) c.837T>A (p.Asp279Glu) | |
| 3 | g.38608184T>A | CA352150107 | SCN5A | c.965A>T (p.Asp322Val) c.836A>T (p.Asp279Val) | |
| 3 | g.38608184T>C | CA352150108 | SCN5A | c.965A>G (p.Asp322Gly) c.836A>G (p.Asp279Gly) | |
| 3 | g.38608184T>G | CA352150111 | SCN5A | c.965A>C (p.Asp322Ala) c.836A>C (p.Asp279Ala) | |
| 3 | g.38608185C>A | CA352150112 | SCN5A | c.964G>T (p.Asp322Tyr) c.835G>T (p.Asp279Tyr) | |
| 3 | g.38608185C= | CA1358586951 | SCN5A | c.964G= (p.Asp322=) c.835G= (p.Asp279=) | |
| 3 | g.38608185C>G | CA352150114 | SCN5A | c.964G>C (p.Asp322His) c.835G>C (p.Asp279His) | |
| 3 | g.38608185C>T | CA352150116 | SCN5A | c.964G>A (p.Asp322Asn) c.835G>A (p.Asp279Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38608186A>C | CA433138082 | SCN5A | c.963T>G (p.Ser321=) c.834T>G (p.Ser278=) | |
| 3 | g.38608186A>G | CA433138084 | SCN5A | c.963T>C (p.Ser321=) c.834T>C (p.Ser278=) | dbSNP gnomAD v4 |
| 3 | g.38608186A>T | CA433138085 | SCN5A | c.963T>A (p.Ser321=) c.834T>A (p.Ser278=) | |
| 3 | g.38608187G>A | CA352150118 | SCN5A | c.962C>T (p.Ser321Phe) c.833C>T (p.Ser278Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38608187G>C | CA352150119 | SCN5A | c.962C>G (p.Ser321Cys) c.833C>G (p.Ser278Cys) | |
| 3 | g.38608187G= | CA1358586952 | SCN5A | c.962C= (p.Ser321=) c.833C= (p.Ser278=) | |
| 3 | g.38608187G>T | CA352150120 | SCN5A | c.962C>A (p.Ser321Tyr) c.833C>A (p.Ser278Tyr) | COSMIC COSMIC COSMIC |
| 3 | g.38608188A>C | CA352150122 | SCN5A | c.961T>G (p.Ser321Ala) c.832T>G (p.Ser278Ala) | |
| 3 | g.38608188A>G | CA352150124 | SCN5A | c.961T>C (p.Ser321Pro) c.832T>C (p.Ser278Pro) | |
| 3 | g.38608188A>T | CA352150125 | SCN5A | c.961T>A (p.Ser321Thr) c.832T>A (p.Ser278Thr) | |
| 3 | g.38608189G>A | CA433138086 | SCN5A | c.960C>T (p.Thr320=) c.831C>T (p.Thr277=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38608189G>C | CA433138088 | SCN5A | c.960C>G (p.Thr320=) c.831C>G (p.Thr277=) | |
| 3 | g.38608189G= | CA1358586953 | SCN5A | c.960C= (p.Thr320=) c.831C= (p.Thr277=) | |
| 3 | g.38608189G>T | CA433138087 | SCN5A | c.960C>A (p.Thr320=) c.831C>A (p.Thr277=) | |
| 3 | g.38608190G>A | CA352150127 | SCN5A | c.959C>T (p.Thr320Ile) c.830C>T (p.Thr277Ile) | ClinVar |
| 3 | g.38608190G>C | CA352150128 | SCN5A | c.959C>G (p.Thr320Ser) c.830C>G (p.Thr277Ser) | |
| 3 | g.38608190G= | CA1358586954 | SCN5A | c.959C= (p.Thr320=) c.830C= (p.Thr277=) | |
| 3 | g.38608190G>T | CA019959 | SCN5A | c.959C>A (p.Thr320Asn) c.830C>A (p.Thr277Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38608191_38608201del | CA2665115801 | SCN5A | c.949_959del (p.Lys317LeufsTer2) c.820_830del (p.Lys274LeufsTer2) | gnomAD v4 |
| 3 | g.38608191T>A | CA352150130 | SCN5A | c.958A>T (p.Thr320Ser) c.829A>T (p.Thr277Ser) | |
| 3 | g.38608191T>C | CA352150132 | SCN5A | c.958A>G (p.Thr320Ala) c.829A>G (p.Thr277Ala) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38608191T>G | CA352150134 | SCN5A | c.958A>C (p.Thr320Pro) c.829A>C (p.Thr277Pro) | |
| 3 | g.38608191T= | CA1358586955 | SCN5A | c.958A= (p.Thr320=) c.829A= (p.Thr277=) | |
| 3 | g.38608192del | CA2577553542 | SCN5A | c.957del (p.Thr320ProfsTer23) c.828del (p.Thr277ProfsTer23) | |
| 3 | g.38608192G>A | CA433138092 | SCN5A | c.957C>T (p.Gly319=) c.828C>T (p.Gly276=) | |
| 3 | g.38608192G>C | CA433138093 | SCN5A | c.957C>G (p.Gly319=) c.828C>G (p.Gly276=) | |
| 3 | g.38608192G>T | CA433138094 | SCN5A | c.957C>A (p.Gly319=) c.828C>A (p.Gly276=) | |
| 3 | g.38608193C>A | CA352150136 | SCN5A | c.956G>T (p.Gly319Val) c.827G>T (p.Gly276Val) | |
| 3 | g.38608193C>G | CA352150138 | SCN5A | c.956G>C (p.Gly319Ala) c.827G>C (p.Gly276Ala) | |
| 3 | g.38608193C>T | CA352150140 | SCN5A | c.956G>A (p.Gly319Asp) c.827G>A (p.Gly276Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38608194C>A | CA352150142 | SCN5A | c.955G>T (p.Gly319Cys) c.826G>T (p.Gly276Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608194C= | CA1358586956 | SCN5A | c.955G= (p.Gly319=) c.826G= (p.Gly276=) | |
| 3 | g.38608194C>G | CA352150144 | SCN5A | c.955G>C (p.Gly319Arg) c.826G>C (p.Gly276Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38608194C>T | CA019955 | SCN5A | c.955G>A (p.Gly319Ser) c.826G>A (p.Gly276Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608195G>A | CA065984 | SCN5A | c.954C>T (p.Asn318=) c.825C>T (p.Asn275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608195G>C | CA352150147 | SCN5A | c.954C>G (p.Asn318Lys) c.825C>G (p.Asn275Lys) | |
| 3 | g.38608195G= | CA1358586957 | SCN5A | c.954C= (p.Asn318=) c.825C= (p.Asn275=) | |
| 3 | g.38608195G>T | CA352150149 | SCN5A | c.954C>A (p.Asn318Lys) c.825C>A (p.Asn275Lys) | |
| 3 | g.38608196T>A | CA352150154 | SCN5A | c.953A>T (p.Asn318Ile) c.824A>T (p.Asn275Ile) | |
| 3 | g.38608196T>C | CA352150151 | SCN5A | c.953A>G (p.Asn318Ser) c.824A>G (p.Asn275Ser) | |
| 3 | g.38608196T>G | CA352150152 | SCN5A | c.953A>C (p.Asn318Thr) c.824A>C (p.Asn275Thr) | |
| 3 | g.38608197T>A | CA352150156 | SCN5A | c.952A>T (p.Asn318Tyr) c.823A>T (p.Asn275Tyr) | |
| 3 | g.38608197T>C | CA352150158 | SCN5A | c.952A>G (p.Asn318Asp) c.823A>G (p.Asn275Asp) | gnomAD v4 |
| 3 | g.38608197T>G | CA352150163 | SCN5A | c.952A>C (p.Asn318His) c.823A>C (p.Asn275His) | |
| 3 | g.38608198C>A | CA352150165 | SCN5A | c.951G>T (p.Lys317Asn) c.822G>T (p.Lys274Asn) | |
| 3 | g.38608198C= | CA1358586958 | SCN5A | c.951G= (p.Lys317=) c.822G= (p.Lys274=) | |
| 3 | g.38608198C>G | CA019950 | SCN5A | c.951G>C (p.Lys317Asn) c.822G>C (p.Lys274Asn) | ClinVar dbSNP |
| 3 | g.38608198C>T | CA433138096 | SCN5A | c.951G>A (p.Lys317=) c.822G>A (p.Lys274=) | |
| 3 | g.38608199T>A | CA352150168 | SCN5A | c.950A>T (p.Lys317Met) c.821A>T (p.Lys274Met) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38608199T>C | CA352150170 | SCN5A | c.950A>G (p.Lys317Arg) c.821A>G (p.Lys274Arg) | |
| 3 | g.38608199T>G | CA352150172 | SCN5A | c.950A>C (p.Lys317Thr) c.821A>C (p.Lys274Thr) | |
| 3 | g.38608199T= | CA1358586959 | SCN5A | c.950A= (p.Lys317=) c.821A= (p.Lys274=) | |
| 3 | g.38608200T>A | CA352150174 | SCN5A | c.949A>T (p.Lys317Ter) c.820A>T (p.Lys274Ter) | dbSNP |
| 3 | g.38608200T>C | CA065979 | SCN5A | c.949A>G (p.Lys317Glu) c.820A>G (p.Lys274Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38608200T>G | CA352150175 | SCN5A | c.949A>C (p.Lys317Gln) c.820A>C (p.Lys274Gln) | |
| 3 | g.38608200T= | CA1358586960 | SCN5A | c.949A= (p.Lys317=) c.820A= (p.Lys274=) | |
| 3 | g.38608201del | CA2577553543 | SCN5A | c.948del (p.Lys317ArgfsTer26) c.819del (p.Lys274ArgfsTer26) | |
| 3 | g.38608201G>A | CA433138098 | SCN5A | c.948C>T (p.Leu316=) c.819C>T (p.Leu273=) | gnomAD v4 |
| 3 | g.38608201G>C | CA433138099 | SCN5A | c.948C>G (p.Leu316=) c.819C>G (p.Leu273=) | |
| 3 | g.38608201G>T | CA433138100 | SCN5A | c.948C>A (p.Leu316=) c.819C>A (p.Leu273=) | ClinVar gnomAD v4 |
| 3 | g.38608202A= | CA1358586961 | SCN5A | c.947T= (p.Leu316=) c.818T= (p.Leu273=) | |
| 3 | g.38608202A>C | CA352150178 | SCN5A | c.947T>G (p.Leu316Arg) c.818T>G (p.Leu273Arg) | dbSNP gnomAD v4 |
| 3 | g.38608202A>G | CA352150180 | SCN5A | c.947T>C (p.Leu316Pro) c.818T>C (p.Leu273Pro) | |
| 3 | g.38608202A>T | CA352150176 | SCN5A | c.947T>A (p.Leu316His) c.818T>A (p.Leu273His) | |
| 3 | g.38608203G>A | CA352150182 | SCN5A | c.946C>T (p.Leu316Phe) c.817C>T (p.Leu273Phe) | gnomAD v4 |
| 3 | g.38608203G>C | CA352150183 | SCN5A | c.946C>G (p.Leu316Val) c.817C>G (p.Leu273Val) | |
| 3 | g.38608203G>T | CA352150185 | SCN5A | c.946C>A (p.Leu316Ile) c.817C>A (p.Leu273Ile) | gnomAD v4 |
| 3 | g.38608204C>A | CA433138102 | SCN5A | c.945G>T (p.Leu315=) c.816G>T (p.Leu272=) | |
| 3 | g.38608204C>G | CA433138101 | SCN5A | c.945G>C (p.Leu315=) c.816G>C (p.Leu272=) | gnomAD v4 |
| 3 | g.38608204C>T | CA433138103 | SCN5A | c.945G>A (p.Leu315=) c.816G>A (p.Leu272=) | |
| 3 | g.38608205A= | CA1358586962 | SCN5A | c.944T= (p.Leu315=) c.815T= (p.Leu272=) | |
| 3 | g.38608205A>C | CA352150187 | SCN5A | c.944T>G (p.Leu315Arg) c.815T>G (p.Leu272Arg) | |
| 3 | g.38608205A>G | CA019944 | SCN5A | c.944T>C (p.Leu315Pro) c.815T>C (p.Leu272Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38608205A>T | CA352150189 | SCN5A | c.944T>A (p.Leu315Gln) c.815T>A (p.Leu272Gln) | |
| 3 | g.38608206G>A | CA433138106 | SCN5A | c.943C>T (p.Leu315=) c.814C>T (p.Leu272=) | |
| 3 | g.38608206G>C | CA352150193 | SCN5A | c.943C>G (p.Leu315Val) c.814C>G (p.Leu272Val) | ClinVar |
| 3 | g.38608206G>T | CA352150191 | SCN5A | c.943C>A (p.Leu315Met) c.814C>A (p.Leu272Met) | |
| 3 | g.38608207G>A | CA065970 | SCN5A | c.942C>T (p.Tyr314=) c.813C>T (p.Tyr271=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38608207G>C | CA352150195 | SCN5A | c.942C>G (p.Tyr314Ter) c.813C>G (p.Tyr271Ter) | |
| 3 | g.38608207G= | CA1358586963 | SCN5A | c.942C= (p.Tyr314=) c.813C= (p.Tyr271=) | |
| 3 | g.38608207G>T | CA352150197 | SCN5A | c.942C>A (p.Tyr314Ter) c.813C>A (p.Tyr271Ter) | |
| 3 | g.38608208T>A | CA352150199 | SCN5A | c.941A>T (p.Tyr314Phe) c.812A>T (p.Tyr271Phe) | |
| 3 | g.38608208T>C | CA352150201 | SCN5A | c.941A>G (p.Tyr314Cys) c.812A>G (p.Tyr271Cys) | |
| 3 | g.38608208T>G | CA352150203 | SCN5A | c.941A>C (p.Tyr314Ser) c.812A>C (p.Tyr271Ser) | |
| 3 | g.38608209A= | CA1358586964 | SCN5A | c.940T= (p.Tyr314=) c.811T= (p.Tyr271=) | |
| 3 | g.38608209A>C | CA352150208 | SCN5A | c.940T>G (p.Tyr314Asp) c.811T>G (p.Tyr271Asp) | ClinVar dbSNP |
| 3 | g.38608209A>G | CA019940 | SCN5A | c.940T>C (p.Tyr314His) c.811T>C (p.Tyr271His) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38608209A>T | CA352150206 | SCN5A | c.940T>A (p.Tyr314Asn) c.811T>A (p.Tyr271Asn) | gnomAD v4 |
| 3 | g.38608210A>C | CA352150210 | SCN5A | c.939T>G (p.Asn313Lys) c.810T>G (p.Asn270Lys) | |
| 3 | g.38608210A>G | CA433138110 | SCN5A | c.939T>C (p.Asn313=) c.810T>C (p.Asn270=) | |
| 3 | g.38608210A>T | CA352150211 | SCN5A | c.939T>A (p.Asn313Lys) c.810T>A (p.Asn270Lys) | |
| 3 | g.38608211T>A | CA352150214 | SCN5A | c.938A>T (p.Asn313Ile) c.809A>T (p.Asn270Ile) | |
| 3 | g.38608211T>C | CA352150216 | SCN5A | c.938A>G (p.Asn313Ser) c.809A>G (p.Asn270Ser) | ClinVar |
| 3 | g.38608211T>G | CA352150217 | SCN5A | c.938A>C (p.Asn313Thr) c.809A>C (p.Asn270Thr) | |
| 3 | g.38608214del | CA2665115802 | SCN5A | c.938del (p.Asn313IlefsTer30) c.809del (p.Asn270IlefsTer30) | gnomAD v4 |
| 3 | g.38608212T>A | CA352150219 | SCN5A | c.937A>T (p.Asn313Tyr) c.808A>T (p.Asn270Tyr) | |
| 3 | g.38608212T>C | CA352150221 | SCN5A | c.937A>G (p.Asn313Asp) c.808A>G (p.Asn270Asp) | |
| 3 | g.38608212T>G | CA352150223 | SCN5A | c.937A>C (p.Asn313His) c.808A>C (p.Asn270His) | |
| 3 | g.38608213T>A | CA352150225 | SCN5A | c.936A>T (p.Glu312Asp) c.807A>T (p.Glu269Asp) | |
| 3 | g.38608213T>C | CA433138114 | SCN5A | c.936A>G (p.Glu312=) c.807A>G (p.Glu269=) | gnomAD v4 |
| 3 | g.38608213T>G | CA352150226 | SCN5A | c.936A>C (p.Glu312Asp) c.807A>C (p.Glu269Asp) |