UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38609690G>A | CA906899083 | SCN5A | c.934+44C>T (n.934+44C>T) c.805+44C>T (n.805+44C>T) | dbSNP |
| 3 | g.38609690G>C | CA2665116044 | SCN5A | c.934+44C>G (n.934+44C>G) c.805+44C>G (n.805+44C>G) | gnomAD v4 |
| 3 | g.38609690G= | CA1358587603 | SCN5A | c.934+44C= (n.934+44C=) c.805+44C= (n.805+44C=) | |
| 3 | g.38609691C>T | CA2665116045 | SCN5A | c.934+43G>A (n.934+43G>A) c.805+43G>A (n.805+43G>A) | gnomAD v4 |
| 3 | g.38609693G>A | CA542273798 | SCN5A | c.934+41C>T (n.934+41C>T) c.805+41C>T (n.805+41C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609693G= | CA1358587604 | SCN5A | c.934+41C= (n.934+41C=) c.805+41C= (n.805+41C=) | |
| 3 | g.38609693G>T | CA2577553575 | SCN5A | c.934+41C>A (n.934+41C>A) c.805+41C>A (n.805+41C>A) | gnomAD v4 |
| 3 | g.38609694del | CA2577553574 | SCN5A | c.934+41del (n.934+41del) c.805+41del (n.805+41del) | |
| 3 | g.38609694G>A | CA2577553576 | SCN5A | c.934+40C>T (n.934+40C>T) c.805+40C>T (n.805+40C>T) | |
| 3 | g.38609694G>T | CA2665116046 | SCN5A | c.934+40C>A (n.934+40C>A) c.805+40C>A (n.805+40C>A) | gnomAD v4 |
| 3 | g.38609696C>A | CA2665116047 | SCN5A | c.934+38G>T (n.934+38G>T) c.805+38G>T (n.805+38G>T) | gnomAD v4 |
| 3 | g.38609696C>G | CA2577553577 | SCN5A | c.934+38G>C (n.934+38G>C) c.805+38G>C (n.805+38G>C) | |
| 3 | g.38609698C>A | CA2665116048 | SCN5A | c.934+36G>T (n.934+36G>T) c.805+36G>T (n.805+36G>T) | gnomAD v4 |
| 3 | g.38609698C= | CA1358587605 | SCN5A | c.934+36G= (n.934+36G=) c.805+36G= (n.805+36G=) | |
| 3 | g.38609698C>G | CA1358587606 | SCN5A | c.934+36G>C (n.934+36G>C) c.805+36G>C (n.805+36G>C) | dbSNP gnomAD v4 |
| 3 | g.38609698C>T | CA72941596 | SCN5A | c.934+36G>A (n.934+36G>A) c.805+36G>A (n.805+36G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609700C>T | CA2665116049 | SCN5A | c.934+34G>A (n.934+34G>A) c.805+34G>A (n.805+34G>A) | gnomAD v4 |
| 3 | g.38609700_38609702delinsCAA | CA1358587607 | SCN5A | c.934+32_934+34delinsTTG (n.934+32_934+34delinsTTG) c.805+32_805+34delinsTTG (n.805+32_805+34delinsTTG) | |
| 3 | g.38609703del | CA065915 | SCN5A | c.934+33del (n.934+33del) c.805+33del (n.805+33del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609702_38609703del | CA1358587608 | SCN5A | c.934+32_934+33del (n.934+32_934+33del) c.805+32_805+33del (n.805+32_805+33del) | dbSNP gnomAD v4 |
| 3 | g.38609702A>T | CA2577553578 | SCN5A | c.934+32T>A (n.934+32T>A) c.805+32T>A (n.805+32T>A) | |
| 3 | g.38609704G>A | CA542273799 | SCN5A | c.934+30C>T (n.934+30C>T) c.805+30C>T (n.805+30C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609704G= | CA1358587609 | SCN5A | c.934+30C= (n.934+30C=) c.805+30C= (n.805+30C=) | |
| 3 | g.38609704G>T | CA2665116050 | SCN5A | c.934+30C>A (n.934+30C>A) c.805+30C>A (n.805+30C>A) | gnomAD v4 |
| 3 | g.38609705T>A | CA2665116051 | SCN5A | c.934+29A>T (n.934+29A>T) c.805+29A>T (n.805+29A>T) | gnomAD v4 |
| 3 | g.38609705T>C | CA2665116052 | SCN5A | c.934+29A>G (n.934+29A>G) c.805+29A>G (n.805+29A>G) | gnomAD v4 |
| 3 | g.38609706C>T | CA2665116053 | SCN5A | c.934+28G>A (n.934+28G>A) c.805+28G>A (n.805+28G>A) | gnomAD v4 |
| 3 | g.38609706_38609707delinsCT | CA1358587610 | SCN5A | c.934+27_934+28delinsAG (n.934+27_934+28delinsAG) c.805+27_805+28delinsAG (n.805+27_805+28delinsAG) | |
| 3 | g.38609708del | CA1046997878 | SCN5A | c.934+27del (n.934+27del) c.805+27del (n.805+27del) | dbSNP gnomAD v4 |
| 3 | g.38609708T>A | CA542273800 | SCN5A | c.934+26A>T (n.934+26A>T) c.805+26A>T (n.805+26A>T) | dbSNP gnomAD v2 |
| 3 | g.38609708T= | CA1358587611 | SCN5A | c.934+26A= (n.934+26A=) c.805+26A= (n.805+26A=) | |
| 3 | g.38609709C>A | CA2665116054 | SCN5A | c.934+25G>T (n.934+25G>T) c.805+25G>T (n.805+25G>T) | gnomAD v4 |
| 3 | g.38609712C>T | CA2665116055 | SCN5A | c.934+22G>A (n.934+22G>A) c.805+22G>A (n.805+22G>A) | gnomAD v4 |
| 3 | g.38609713A= | CA1358587612 | SCN5A | c.934+21T= (n.934+21T=) c.805+21T= (n.805+21T=) | |
| 3 | g.38609713A>G | CA542273801 | SCN5A | c.934+21T>C (n.934+21T>C) c.805+21T>C (n.805+21T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609714G>A | CA2665116056 | SCN5A | c.934+20C>T (n.934+20C>T) c.805+20C>T (n.805+20C>T) | gnomAD v4 |
| 3 | g.38609714G>T | CA2577553579 | SCN5A | c.934+20C>A (n.934+20C>A) c.805+20C>A (n.805+20C>A) | gnomAD v4 |
| 3 | g.38609715C>G | CA2697550813 | SCN5A | c.934+19G>C (n.934+19G>C) c.805+19G>C (n.805+19G>C) | ClinVar |
| 3 | g.38609717G>A | CA1358587614 | SCN5A | c.934+17C>T (n.934+17C>T) c.805+17C>T (n.805+17C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38609717G>C | CA906899103 | SCN5A | c.934+17C>G (n.934+17C>G) c.805+17C>G (n.805+17C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38609717G= | CA1358587613 | SCN5A | c.934+17C= (n.934+17C=) c.805+17C= (n.805+17C=) | |
| 3 | g.38609718C= | CA1358587615 | SCN5A | c.934+16G= (n.934+16G=) c.805+16G= (n.805+16G=) | |
| 3 | g.38609718C>T | CA542273802 | SCN5A | c.934+16G>A (n.934+16G>A) c.805+16G>A (n.805+16G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609719A= | CA1358587616 | SCN5A | c.934+15T= (n.934+15T=) c.805+15T= (n.805+15T=) | |
| 3 | g.38609719A>C | CA065910 | SCN5A | c.934+15T>G (n.934+15T>G) c.805+15T>G (n.805+15T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609720G>A | CA2577553580 | SCN5A | c.934+14C>T (n.934+14C>T) c.805+14C>T (n.805+14C>T) | |
| 3 | g.38609720G>C | CA542273803 | SCN5A | c.934+14C>G (n.934+14C>G) c.805+14C>G (n.805+14C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609720G= | CA1358587617 | SCN5A | c.934+14C= (n.934+14C=) c.805+14C= (n.805+14C=) | |
| 3 | g.38609720G>T | CA2665116057 | SCN5A | c.934+14C>A (n.934+14C>A) c.805+14C>A (n.805+14C>A) | dbSNP gnomAD v4 |
| 3 | g.38609721A>G | CA2739279649 | SCN5A | c.934+13T>C (n.934+13T>C) c.805+13T>C (n.805+13T>C) | ClinVar |
| 3 | g.38609722G>A | CA542273804 | SCN5A | c.934+12C>T (n.934+12C>T) c.805+12C>T (n.805+12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609722G= | CA1358587618 | SCN5A | c.934+12C= (n.934+12C=) c.805+12C= (n.805+12C=) | |
| 3 | g.38609722G>T | CA2665116058 | SCN5A | c.934+12C>A (n.934+12C>A) c.805+12C>A (n.805+12C>A) | gnomAD v4 |
| 3 | g.38609725_38609732del | CA2577553581 | SCN5A | c.934+5_934+12del (n.934+5_934+12del) c.805+5_805+12del (n.805+5_805+12del) | |
| 3 | g.38609723C>T | CA2665116059 | SCN5A | c.934+11G>A (n.934+11G>A) c.805+11G>A (n.805+11G>A) | gnomAD v4 |
| 3 | g.38609725A= | CA1358587619 | SCN5A | c.934+9T= (n.934+9T=) c.805+9T= (n.805+9T=) | |
| 3 | g.38609725A>G | CA2665116060 | SCN5A | c.934+9T>C (n.934+9T>C) c.805+9T>C (n.805+9T>C) | gnomAD v4 |
| 3 | g.38609725A>T | CA065936 | SCN5A | c.934+9T>A (n.934+9T>A) c.805+9T>A (n.805+9T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609726G>T | CA2577553582 | SCN5A | c.934+8C>A (n.934+8C>A) c.805+8C>A (n.805+8C>A) | |
| 3 | g.38609729C>A | CA2755901098 | SCN5A | c.934+5G>T (n.934+5G>T) c.805+5G>T (n.805+5G>T) | |
| 3 | g.38609729C= | CA1358587620 | SCN5A | c.934+5G= (n.934+5G=) c.805+5G= (n.805+5G=) | |
| 3 | g.38609729C>T | CA065932 | SCN5A | c.934+5G>A (n.934+5G>A) c.805+5G>A (n.805+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609730G>A | CA065923 | SCN5A | c.934+4C>T (n.934+4C>T) c.805+4C>T (n.805+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609730G= | CA1358587621 | SCN5A | c.934+4C= (n.934+4C=) c.805+4C= (n.805+4C=) | |
| 3 | g.38609731C= | CA1358587622 | SCN5A | c.934+3G= (n.934+3G=) c.805+3G= (n.805+3G=) | |
| 3 | g.38609731C>T | CA1046997891 | SCN5A | c.934+3G>A (n.934+3G>A) c.805+3G>A (n.805+3G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38609732A>C | CA352150304 | SCN5A | c.934+2T>G (n.934+2T>G) c.805+2T>G (n.805+2T>G) | |
| 3 | g.38609732A>G | CA352150306 | SCN5A | c.934+2T>C (n.934+2T>C) c.805+2T>C (n.805+2T>C) | |
| 3 | g.38609732A>T | CA352150305 | SCN5A | c.934+2T>A (n.934+2T>A) c.805+2T>A (n.805+2T>A) | |
| 3 | g.38609733C>A | CA352150307 | SCN5A | c.934+1G>T (n.934+1G>T) c.805+1G>T (n.805+1G>T) | |
| 3 | g.38609733C= | CA1358587623 | SCN5A | c.934+1G= (n.934+1G=) c.805+1G= (n.805+1G=) | |
| 3 | g.38609733C>G | CA352150308 | SCN5A | c.934+1G>C (n.934+1G>C) c.805+1G>C (n.805+1G>C) | |
| 3 | g.38609733C>T | CA352150309 | SCN5A | c.934+1G>A (n.934+1G>A) c.805+1G>A (n.805+1G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38609734C>A | CA352150310 | SCN5A | c.934G>T (p.Glu312Ter) c.805G>T (p.Glu269Ter) | dbSNP |
| 3 | g.38609734C= | CA1358587624 | SCN5A | c.934G= (p.Glu312=) c.805G= (p.Glu269=) | |
| 3 | g.38609734C>G | CA352150311 | SCN5A | c.934G>C (p.Glu312Gln) c.805G>C (p.Glu269Gln) | |
| 3 | g.38609734C>T | CA352150312 | SCN5A | c.934G>A (p.Glu312Lys) c.805G>A (p.Glu269Lys) | ClinVar gnomAD v4 |
| 3 | g.38609735T>A | CA433138137 | SCN5A | c.933A>T (p.Pro311=) c.804A>T (p.Pro268=) | |
| 3 | g.38609735T>C | CA433138138 | SCN5A | c.933A>G (p.Pro311=) c.804A>G (p.Pro268=) | |
| 3 | g.38609735T>G | CA433138140 | SCN5A | c.933A>C (p.Pro311=) c.804A>C (p.Pro268=) | |
| 3 | g.38609736G>A | CA352150313 | SCN5A | c.932C>T (p.Pro311Leu) c.803C>T (p.Pro268Leu) | |
| 3 | g.38609736G>C | CA352150314 | SCN5A | c.932C>G (p.Pro311Arg) c.803C>G (p.Pro268Arg) | |
| 3 | g.38609736G>T | CA352150315 | SCN5A | c.932C>A (p.Pro311Gln) c.803C>A (p.Pro268Gln) | |
| 3 | g.38609737G>A | CA352150316 | SCN5A | c.931C>T (p.Pro311Ser) c.802C>T (p.Pro268Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38609737G>C | CA352150317 | SCN5A | c.931C>G (p.Pro311Ala) c.802C>G (p.Pro268Ala) | |
| 3 | g.38609737G= | CA1358587625 | SCN5A | c.931C= (p.Pro311=) c.802C= (p.Pro268=) | |
| 3 | g.38609737G>T | CA352150318 | SCN5A | c.931C>A (p.Pro311Thr) c.802C>A (p.Pro268Thr) | |
| 3 | g.38609738A>C | CA352150319 | SCN5A | c.930T>G (p.Asp310Glu) c.801T>G (p.Asp267Glu) | |
| 3 | g.38609738A>G | CA433138144 | SCN5A | c.930T>C (p.Asp310=) c.801T>C (p.Asp267=) | |
| 3 | g.38609738A>T | CA352150320 | SCN5A | c.930T>A (p.Asp310Glu) c.801T>A (p.Asp267Glu) | |
| 3 | g.38609739T>A | CA352150321 | SCN5A | c.929A>T (p.Asp310Val) c.800A>T (p.Asp267Val) | |
| 3 | g.38609739T>C | CA352150322 | SCN5A | c.929A>G (p.Asp310Gly) c.800A>G (p.Asp267Gly) | |
| 3 | g.38609739T>G | CA352150323 | SCN5A | c.929A>C (p.Asp310Ala) c.800A>C (p.Asp267Ala) | |
| 3 | g.38609740C>A | CA352150324 | SCN5A | c.928G>T (p.Asp310Tyr) c.799G>T (p.Asp267Tyr) | |
| 3 | g.38609740C= | CA1358587626 | SCN5A | c.928G= (p.Asp310=) c.799G= (p.Asp267=) | |
| 3 | g.38609740C>G | CA352150325 | SCN5A | c.928G>C (p.Asp310His) c.799G>C (p.Asp267His) | |
| 3 | g.38609740C>T | CA352150326 | SCN5A | c.928G>A (p.Asp310Asn) c.799G>A (p.Asp267Asn) | dbSNP gnomAD v4 |
| 3 | g.38609741A>C | CA352150327 | SCN5A | c.927T>G (p.Ser309Arg) c.798T>G (p.Ser266Arg) | gnomAD v4 |
| 3 | g.38609741A>G | CA433138146 | SCN5A | c.927T>C (p.Ser309=) c.798T>C (p.Ser266=) | |
| 3 | g.38609741A>T | CA352150328 | SCN5A | c.927T>A (p.Ser309Arg) c.798T>A (p.Ser266Arg) | |
| 3 | g.38609742C>A | CA352150329 | SCN5A | c.926G>T (p.Ser309Ile) c.797G>T (p.Ser266Ile) | |
| 3 | g.38609742C= | CA1358587627 | SCN5A | c.926G= (p.Ser309=) c.797G= (p.Ser266=) | |
| 3 | g.38609742C>G | CA352150330 | SCN5A | c.926G>C (p.Ser309Thr) c.797G>C (p.Ser266Thr) | |
| 3 | g.38609742C>T | CA065906 | SCN5A | c.926G>A (p.Ser309Asn) c.797G>A (p.Ser266Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609743T>A | CA352150332 | SCN5A | c.925A>T (p.Ser309Cys) c.796A>T (p.Ser266Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609743T>C | CA352150333 | SCN5A | c.925A>G (p.Ser309Gly) c.796A>G (p.Ser266Gly) | |
| 3 | g.38609743T>G | CA352150331 | SCN5A | c.925A>C (p.Ser309Arg) c.796A>C (p.Ser266Arg) | |
| 3 | g.38609743T= | CA1358587628 | SCN5A | c.925A= (p.Ser309=) c.796A= (p.Ser266=) | |
| 3 | g.38609744G>A | CA433138148 | SCN5A | c.924C>T (p.Leu308=) c.795C>T (p.Leu265=) | |
| 3 | g.38609744G>C | CA433138149 | SCN5A | c.924C>G (p.Leu308=) c.795C>G (p.Leu265=) | |
| 3 | g.38609744G>T | CA433138150 | SCN5A | c.924C>A (p.Leu308=) c.795C>A (p.Leu265=) | |
| 3 | g.38609745A>C | CA352150334 | SCN5A | c.923T>G (p.Leu308Arg) c.794T>G (p.Leu265Arg) | |
| 3 | g.38609745A>G | CA352150335 | SCN5A | c.923T>C (p.Leu308Pro) c.794T>C (p.Leu265Pro) | |
| 3 | g.38609745A>T | CA352150336 | SCN5A | c.923T>A (p.Leu308His) c.794T>A (p.Leu265His) | |
| 3 | g.38609746G>A | CA352150337 | SCN5A | c.922C>T (p.Leu308Phe) c.793C>T (p.Leu265Phe) | |
| 3 | g.38609746G>C | CA352150338 | SCN5A | c.922C>G (p.Leu308Val) c.793C>G (p.Leu265Val) | ClinVar dbSNP |
| 3 | g.38609746G= | CA1358587629 | SCN5A | c.922C= (p.Leu308=) c.793C= (p.Leu265=) | |
| 3 | g.38609746G>T | CA352150339 | SCN5A | c.922C>A (p.Leu308Ile) c.793C>A (p.Leu265Ile) | |
| 3 | g.38609747G>A | CA433138153 | SCN5A | c.921C>T (p.Tyr307=) c.792C>T (p.Tyr264=) | gnomAD v4 |
| 3 | g.38609747G>C | CA352150341 | SCN5A | c.921C>G (p.Tyr307Ter) c.792C>G (p.Tyr264Ter) | |
| 3 | g.38609747G>T | CA352150340 | SCN5A | c.921C>A (p.Tyr307Ter) c.792C>A (p.Tyr264Ter) | |
| 3 | g.38609748T>A | CA352150342 | SCN5A | c.920A>T (p.Tyr307Phe) c.791A>T (p.Tyr264Phe) | |
| 3 | g.38609748T>C | CA352150343 | SCN5A | c.920A>G (p.Tyr307Cys) c.791A>G (p.Tyr264Cys) | |
| 3 | g.38609748T>G | CA352150344 | SCN5A | c.920A>C (p.Tyr307Ser) c.791A>C (p.Tyr264Ser) | |
| 3 | g.38609749A>C | CA352150345 | SCN5A | c.919T>G (p.Tyr307Asp) c.790T>G (p.Tyr264Asp) | |
| 3 | g.38609749A>G | CA352150346 | SCN5A | c.919T>C (p.Tyr307His) c.790T>C (p.Tyr264His) | |
| 3 | g.38609749A>T | CA352150347 | SCN5A | c.919T>A (p.Tyr307Asn) c.790T>A (p.Tyr264Asn) | |
| 3 | g.38609750A>C | CA433138157 | SCN5A | c.918T>G (p.Leu306=) c.789T>G (p.Leu263=) | |
| 3 | g.38609750A>G | CA433138158 | SCN5A | c.918T>C (p.Leu306=) c.789T>C (p.Leu263=) | |
| 3 | g.38609750A>T | CA433138159 | SCN5A | c.918T>A (p.Leu306=) c.789T>A (p.Leu263=) | |
| 3 | g.38609751A= | CA1358587630 | SCN5A | c.917T= (p.Leu306=) c.788T= (p.Leu263=) | |
| 3 | g.38609751A>C | CA352150348 | SCN5A | c.917T>G (p.Leu306Arg) c.788T>G (p.Leu263Arg) | |
| 3 | g.38609751A>G | CA352150350 | SCN5A | c.917T>C (p.Leu306Pro) c.788T>C (p.Leu263Pro) | dbSNP |
| 3 | g.38609751A>T | CA352150349 | SCN5A | c.917T>A (p.Leu306His) c.788T>A (p.Leu263His) | |
| 3 | g.38609752G>A | CA065902 | SCN5A | c.916C>T (p.Leu306Phe) c.787C>T (p.Leu263Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609752G>C | CA065896 | SCN5A | c.916C>G (p.Leu306Val) c.787C>G (p.Leu263Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609752G= | CA1358587631 | SCN5A | c.916C= (p.Leu306=) c.787C= (p.Leu263=) | |
| 3 | g.38609752G>T | CA352150351 | SCN5A | c.916C>A (p.Leu306Ile) c.787C>A (p.Leu263Ile) | ClinVar dbSNP |
| 3 | g.38609753G>A | CA433138162 | SCN5A | c.915C>T (p.Asp305=) c.786C>T (p.Asp262=) | ClinVar dbSNP |
| 3 | g.38609753G>C | CA352150352 | SCN5A | c.915C>G (p.Asp305Glu) c.786C>G (p.Asp262Glu) | |
| 3 | g.38609753G= | CA1358587632 | SCN5A | c.915C= (p.Asp305=) c.786C= (p.Asp262=) | |
| 3 | g.38609753G>T | CA352150353 | SCN5A | c.915C>A (p.Asp305Glu) c.786C>A (p.Asp262Glu) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38609754T>A | CA352150354 | SCN5A | c.914A>T (p.Asp305Val) c.785A>T (p.Asp262Val) | |
| 3 | g.38609754T>C | CA352150355 | SCN5A | c.914A>G (p.Asp305Gly) c.785A>G (p.Asp262Gly) | ClinVar |
| 3 | g.38609754T>G | CA352150356 | SCN5A | c.914A>C (p.Asp305Ala) c.785A>C (p.Asp262Ala) | |
| 3 | g.38609755C>A | CA352150357 | SCN5A | c.913G>T (p.Asp305Tyr) c.784G>T (p.Asp262Tyr) | |
| 3 | g.38609755C= | CA1358587633 | SCN5A | c.913G= (p.Asp305=) c.784G= (p.Asp262=) | |
| 3 | g.38609755C>G | CA352150358 | SCN5A | c.913G>C (p.Asp305His) c.784G>C (p.Asp262His) | |
| 3 | g.38609755C>T | CA065891 | SCN5A | c.913G>A (p.Asp305Asn) c.784G>A (p.Asp262Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38609756C>A | CA433138168 | SCN5A | c.912G>T (p.Leu304=) c.783G>T (p.Leu261=) | |
| 3 | g.38609756C>G | CA433138167 | SCN5A | c.912G>C (p.Leu304=) c.783G>C (p.Leu261=) | |
| 3 | g.38609756C>T | CA433138166 | SCN5A | c.912G>A (p.Leu304=) c.783G>A (p.Leu261=) | |
| 3 | g.38609757A>C | CA352150359 | SCN5A | c.911T>G (p.Leu304Arg) c.782T>G (p.Leu261Arg) | |
| 3 | g.38609757A>G | CA352150361 | SCN5A | c.911T>C (p.Leu304Pro) c.782T>C (p.Leu261Pro) | |
| 3 | g.38609757A>T | CA352150360 | SCN5A | c.911T>A (p.Leu304Gln) c.782T>A (p.Leu261Gln) | |
| 3 | g.38609758G>A | CA433138169 | SCN5A | c.910C>T (p.Leu304=) c.781C>T (p.Leu261=) | ClinVar gnomAD v4 |
| 3 | g.38609758G>C | CA352150362 | SCN5A | c.910C>G (p.Leu304Val) c.781C>G (p.Leu261Val) | |
| 3 | g.38609758G>T | CA352150363 | SCN5A | c.910C>A (p.Leu304Met) c.781C>A (p.Leu261Met) | |
| 3 | g.38609759G>A | CA433138172 | SCN5A | c.909C>T (p.Ser303=) c.780C>T (p.Ser260=) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38609759G>C | CA433138174 | SCN5A | c.909C>G (p.Ser303=) c.780C>G (p.Ser260=) | |
| 3 | g.38609759G= | CA1358587634 | SCN5A | c.909C= (p.Ser303=) c.780C= (p.Ser260=) | |
| 3 | g.38609759G>T | CA433138175 | SCN5A | c.909C>A (p.Ser303=) c.780C>A (p.Ser260=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38609760G>A | CA352150364 | SCN5A | c.908C>T (p.Ser303Phe) c.779C>T (p.Ser260Phe) | |
| 3 | g.38609760G>C | CA352150366 | SCN5A | c.908C>G (p.Ser303Cys) c.779C>G (p.Ser260Cys) | |
| 3 | g.38609760G>T | CA352150365 | SCN5A | c.908C>A (p.Ser303Tyr) c.779C>A (p.Ser260Tyr) | gnomAD v4 |
| 3 | g.38609761A>C | CA352150367 | SCN5A | c.907T>G (p.Ser303Ala) c.778T>G (p.Ser260Ala) | |
| 3 | g.38609761A>G | CA352150369 | SCN5A | c.907T>C (p.Ser303Pro) c.778T>C (p.Ser260Pro) | |
| 3 | g.38609761A>T | CA352150368 | SCN5A | c.907T>A (p.Ser303Thr) c.778T>A (p.Ser260Thr) | |
| 3 | g.38609762T>A | CA352150370 | SCN5A | c.906A>T (p.Glu302Asp) c.777A>T (p.Glu259Asp) | |
| 3 | g.38609762T>C | CA433138177 | SCN5A | c.906A>G (p.Glu302=) c.777A>G (p.Glu259=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609762T>G | CA352150371 | SCN5A | c.906A>C (p.Glu302Asp) c.777A>C (p.Glu259Asp) | |
| 3 | g.38609762T= | CA1358587635 | SCN5A | c.906A= (p.Glu302=) c.777A= (p.Glu259=) | |
| 3 | g.38609763T>A | CA352150372 | SCN5A | c.905A>T (p.Glu302Val) c.776A>T (p.Glu259Val) | |
| 3 | g.38609763T>C | CA352150373 | SCN5A | c.905A>G (p.Glu302Gly) c.776A>G (p.Glu259Gly) | |
| 3 | g.38609763T>G | CA352150374 | SCN5A | c.905A>C (p.Glu302Ala) c.776A>C (p.Glu259Ala) | |
| 3 | g.38609764C>A | CA16611395 | SCN5A | c.904G>T (p.Glu302Ter) c.775G>T (p.Glu259Ter) | ClinVar dbSNP |
| 3 | g.38609764C= | CA1358587636 | SCN5A | c.904G= (p.Glu302=) c.775G= (p.Glu259=) | |
| 3 | g.38609764C>G | CA352150376 | SCN5A | c.904G>C (p.Glu302Gln) c.775G>C (p.Glu259Gln) | |
| 3 | g.38609764C>T | CA352150375 | SCN5A | c.904G>A (p.Glu302Lys) c.775G>A (p.Glu259Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38609765C>A | CA352150377 | SCN5A | c.903G>T (p.Trp301Cys) c.774G>T (p.Trp258Cys) | |
| 3 | g.38609765C= | CA1358587637 | SCN5A | c.903G= (p.Trp301=) c.774G= (p.Trp258=) | |
| 3 | g.38609765C>G | CA16604567 | SCN5A | c.903G>C (p.Trp301Cys) c.774G>C (p.Trp258Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38609765C>T | CA352150378 | SCN5A | c.903G>A (p.Trp301Ter) c.774G>A (p.Trp258Ter) | dbSNP gnomAD v4 |
| 3 | g.38609766C>A | CA352150379 | SCN5A | c.902G>T (p.Trp301Leu) c.773G>T (p.Trp258Leu) | |
| 3 | g.38609766C>G | CA352150380 | SCN5A | c.902G>C (p.Trp301Ser) c.773G>C (p.Trp258Ser) | |
| 3 | g.38609766C>T | CA352150381 | SCN5A | c.902G>A (p.Trp301Ter) c.773G>A (p.Trp258Ter) | |
| 3 | g.38609767del | CA2499216756 | SCN5A | c.901del (p.Trp301GlyfsTer?) c.772del (p.Trp258GlyfsTer?) | ClinVar dbSNP |
| 3 | g.38609767A>C | CA352150382 | SCN5A | c.901T>G (p.Trp301Gly) c.772T>G (p.Trp258Gly) | |
| 3 | g.38609767A>G | CA352150384 | SCN5A | c.901T>C (p.Trp301Arg) c.772T>C (p.Trp258Arg) | |
| 3 | g.38609767A>T | CA352150383 | SCN5A | c.901T>A (p.Trp301Arg) c.772T>A (p.Trp258Arg) | |
| 3 | g.38609768G>A | CA433138179 | SCN5A | c.900C>T (p.Val300=) c.771C>T (p.Val257=) | |
| 3 | g.38609768G>C | CA433138181 | SCN5A | c.900C>G (p.Val300=) c.771C>G (p.Val257=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38609768G= | CA1358587638 | SCN5A | c.900C= (p.Val300=) c.771C= (p.Val257=) | |
| 3 | g.38609768G>T | CA433138183 | SCN5A | c.900C>A (p.Val300=) c.771C>A (p.Val257=) | dbSNP |
| 3 | g.38609769A= | CA1358587639 | SCN5A | c.899T= (p.Val300=) c.770T= (p.Val257=) | |
| 3 | g.38609769A>C | CA352150385 | SCN5A | c.899T>G (p.Val300Gly) c.770T>G (p.Val257Gly) | dbSNP |
| 3 | g.38609769A>G | CA352150386 | SCN5A | c.899T>C (p.Val300Ala) c.770T>C (p.Val257Ala) | |
| 3 | g.38609769A>T | CA352150387 | SCN5A | c.899T>A (p.Val300Asp) c.770T>A (p.Val257Asp) | ClinVar dbSNP |
| 3 | g.38609770C>A | CA352150388 | SCN5A | c.898G>T (p.Val300Phe) c.769G>T (p.Val257Phe) | |
| 3 | g.38609770C= | CA1358587640 | SCN5A | c.898G= (p.Val300=) c.769G= (p.Val257=) | |
| 3 | g.38609770C>G | CA352150389 | SCN5A | c.898G>C (p.Val300Leu) c.769G>C (p.Val257Leu) | |
| 3 | g.38609770C>T | CA019931 | SCN5A | c.898G>A (p.Val300Ile) c.769G>A (p.Val257Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609771C>A | CA352150390 | SCN5A | c.897G>T (p.Leu299Phe) c.768G>T (p.Leu256Phe) | |
| 3 | g.38609771C= | CA1358587641 | SCN5A | c.897G= (p.Leu299=) c.768G= (p.Leu256=) | |
| 3 | g.38609771C>G | CA065880 | SCN5A | c.897G>C (p.Leu299Phe) c.768G>C (p.Leu256Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609771C>T | CA433138188 | SCN5A | c.897G>A (p.Leu299=) c.768G>A (p.Leu256=) | |
| 3 | g.38609772A= | CA1358587642 | SCN5A | c.896T= (p.Leu299=) c.767T= (p.Leu256=) | |
| 3 | g.38609772A>C | CA352150391 | SCN5A | c.896T>G (p.Leu299Trp) c.767T>G (p.Leu256Trp) | |
| 3 | g.38609772A>G | CA352150392 | SCN5A | c.896T>C (p.Leu299Ser) c.767T>C (p.Leu256Ser) | |
| 3 | g.38609772A>T | CA352150393 | SCN5A | c.896T>A (p.Leu299Ter) c.767T>A (p.Leu256Ter) | dbSNP |
| 3 | g.38609773A= | CA1358587643 | SCN5A | c.895T= (p.Leu299=) c.766T= (p.Leu256=) | |
| 3 | g.38609773A>C | CA352150394 | SCN5A | c.895T>G (p.Leu299Val) c.766T>G (p.Leu256Val) | |
| 3 | g.38609773A>G | CA433138192 | SCN5A | c.895T>C (p.Leu299=) c.766T>C (p.Leu256=) | |
| 3 | g.38609773A>T | CA019926 | SCN5A | c.895T>A (p.Leu299Met) c.766T>A (p.Leu256Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609774G>A | CA433138193 | SCN5A | c.894C>T (p.Gly298=) c.765C>T (p.Gly255=) | |
| 3 | g.38609774G>C | CA433138194 | SCN5A | c.894C>G (p.Gly298=) c.765C>G (p.Gly255=) | |
| 3 | g.38609774G>T | CA433138195 | SCN5A | c.894C>A (p.Gly298=) c.765C>A (p.Gly255=) | |
| 3 | g.38609775C>A | CA352150395 | SCN5A | c.893G>T (p.Gly298Val) c.764G>T (p.Gly255Val) | |
| 3 | g.38609775C= | CA1358587644 | SCN5A | c.893G= (p.Gly298=) c.764G= (p.Gly255=) | |
| 3 | g.38609775C>G | CA352150396 | SCN5A | c.893G>C (p.Gly298Ala) c.764G>C (p.Gly255Ala) | |
| 3 | g.38609775C>T | CA065869 | SCN5A | c.893G>A (p.Gly298Asp) c.764G>A (p.Gly255Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38609776C>A | CA352150397 | SCN5A | c.892G>T (p.Gly298Cys) c.763G>T (p.Gly255Cys) | |
| 3 | g.38609776C= | CA1358587645 | SCN5A | c.892G= (p.Gly298=) c.763G= (p.Gly255=) | |
| 3 | g.38609776C>G | CA352150398 | SCN5A | c.892G>C (p.Gly298Arg) c.763G>C (p.Gly255Arg) | |
| 3 | g.38609776C>T | CA019920 | SCN5A | c.892G>A (p.Gly298Ser) c.763G>A (p.Gly255Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609777G>A | CA065862 | SCN5A | c.891C>T (p.Asp297=) c.762C>T (p.Asp254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38609777G>C | CA352150399 | SCN5A | c.891C>G (p.Asp297Glu) c.762C>G (p.Asp254Glu) | |
| 3 | g.38609777G= | CA1358587646 | SCN5A | c.891C= (p.Asp297=) c.762C= (p.Asp254=) | |
| 3 | g.38609777G>T | CA352150400 | SCN5A | c.891C>A (p.Asp297Glu) c.762C>A (p.Asp254Glu) | |
| 3 | g.38609778T>A | CA352150401 | SCN5A | c.890A>T (p.Asp297Val) c.761A>T (p.Asp254Val) | |
| 3 | g.38609778T>C | CA352150402 | SCN5A | c.890A>G (p.Asp297Gly) c.761A>G (p.Asp254Gly) | |
| 3 | g.38609778T>G | CA352150403 | SCN5A | c.890A>C (p.Asp297Ala) c.761A>C (p.Asp254Ala) | |
| 3 | g.38609779C>A | CA352150404 | SCN5A | c.889G>T (p.Asp297Tyr) c.760G>T (p.Asp254Tyr) | |
| 3 | g.38609779C= | CA1358587647 | SCN5A | c.889G= (p.Asp297=) c.760G= (p.Asp254=) | |
| 3 | g.38609779C>G | CA352150405 | SCN5A | c.889G>C (p.Asp297His) c.760G>C (p.Asp254His) | |
| 3 | g.38609779C>T | CA019914 | SCN5A | c.889G>A (p.Asp297Asn) c.760G>A (p.Asp254Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38609780G>A | CA065857 | SCN5A | c.888C>T (p.Ala296=) c.759C>T (p.Ala253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609780G>C | CA065853 | SCN5A | c.888C>G (p.Ala296=) c.759C>G (p.Ala253=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609780G= | CA1358587648 | SCN5A | c.888C= (p.Ala296=) c.759C= (p.Ala253=) | |
| 3 | g.38609780G>T | CA433138201 | SCN5A | c.888C>A (p.Ala296=) c.759C>A (p.Ala253=) | |
| 3 | g.38609780_38609781insCA | CA2665116061 | SCN5A | c.887_888insTG (p.Asp297AlafsTer?) c.758_759insTG (p.Asp254AlafsTer?) | gnomAD v4 |
| 3 | g.38609781G>A | CA352150406 | SCN5A | c.887C>T (p.Ala296Val) c.758C>T (p.Ala253Val) | |
| 3 | g.38609781G>C | CA352150407 | SCN5A | c.887C>G (p.Ala296Gly) c.758C>G (p.Ala253Gly) | |
| 3 | g.38609781G>T | CA352150408 | SCN5A | c.887C>A (p.Ala296Asp) c.758C>A (p.Ala253Asp) | |
| 3 | g.38609782C>A | CA352150409 | SCN5A | c.886G>T (p.Ala296Ser) c.757G>T (p.Ala253Ser) | |
| 3 | g.38609782C>G | CA352150410 | SCN5A | c.886G>C (p.Ala296Pro) c.757G>C (p.Ala253Pro) | |
| 3 | g.38609782C>T | CA352150411 | SCN5A | c.886G>A (p.Ala296Thr) c.757G>A (p.Ala253Thr) | |
| 3 | g.38609783C>A | CA352150412 | SCN5A | c.885G>T (p.Glu295Asp) c.756G>T (p.Glu252Asp) | |
| 3 | g.38609783C= | CA1358587649 | SCN5A | c.885G= (p.Glu295=) c.756G= (p.Glu252=) | |
| 3 | g.38609783C>G | CA352150413 | SCN5A | c.885G>C (p.Glu295Asp) c.756G>C (p.Glu252Asp) | |
| 3 | g.38609783C>T | CA019908 | SCN5A | c.885G>A (p.Glu295=) c.756G>A (p.Glu252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609784T>A | CA352150414 | SCN5A | c.884A>T (p.Glu295Val) c.755A>T (p.Glu252Val) | |
| 3 | g.38609784T>C | CA352150415 | SCN5A | c.884A>G (p.Glu295Gly) c.755A>G (p.Glu252Gly) | |
| 3 | g.38609784T>G | CA352150416 | SCN5A | c.884A>C (p.Glu295Ala) c.755A>C (p.Glu252Ala) | |
| 3 | g.38609785C>A | CA352150417 | SCN5A | c.883G>T (p.Glu295Ter) c.754G>T (p.Glu252Ter) | |
| 3 | g.38609785C= | CA1358587650 | SCN5A | c.883G= (p.Glu295=) c.754G= (p.Glu252=) | |
| 3 | g.38609785C>G | CA352150418 | SCN5A | c.883G>C (p.Glu295Gln) c.754G>C (p.Glu252Gln) | |
| 3 | g.38609785C>T | CA065839 | SCN5A | c.883G>A (p.Glu295Lys) c.754G>A (p.Glu252Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609786C>A | CA433138207 | SCN5A | c.882G>T (p.Val294=) c.753G>T (p.Val251=) | |
| 3 | g.38609786C>G | CA433138208 | SCN5A | c.882G>C (p.Val294=) c.753G>C (p.Val251=) | |
| 3 | g.38609786C>T | CA433138209 | SCN5A | c.882G>A (p.Val294=) c.753G>A (p.Val251=) | |
| 3 | g.38609787A>C | CA352150419 | SCN5A | c.881T>G (p.Val294Gly) c.752T>G (p.Val251Gly) | |
| 3 | g.38609787A>G | CA352150421 | SCN5A | c.881T>C (p.Val294Ala) c.752T>C (p.Val251Ala) | gnomAD v4 |
| 3 | g.38609787A>T | CA352150420 | SCN5A | c.881T>A (p.Val294Glu) c.752T>A (p.Val251Glu) | |
| 3 | g.38609788C>A | CA352150422 | SCN5A | c.880G>T (p.Val294Leu) c.751G>T (p.Val251Leu) | gnomAD v2 gnomAD v4 |
| 3 | g.38609788C= | CA1358587651 | SCN5A | c.880G= (p.Val294=) c.751G= (p.Val251=) | |
| 3 | g.38609788C>G | CA352150423 | SCN5A | c.880G>C (p.Val294Leu) c.751G>C (p.Val251Leu) | |
| 3 | g.38609788C>T | CA019903 | SCN5A | c.880G>A (p.Val294Met) c.751G>A (p.Val251Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609789G>A | CA065817 | SCN5A | c.879C>T (p.Ser293=) c.750C>T (p.Ser250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609789G>C | CA433138216 | SCN5A | c.879C>G (p.Ser293=) c.750C>G (p.Ser250=) | |
| 3 | g.38609789G= | CA1358587652 | SCN5A | c.879C= (p.Ser293=) c.750C= (p.Ser250=) | |
| 3 | g.38609789G>T | CA72941641 | SCN5A | c.879C>A (p.Ser293=) c.750C>A (p.Ser250=) | dbSNP |
| 3 | g.38609791_38609799dup | CA542273805 | SCN5A | c.871_879dup (p.Ser293_Val294insAsnGlySer) c.742_750dup (p.Ser250_Val251insAsnGlySer) | dbSNP gnomAD v2 |