Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35033562G>A | CA405328664 | SCN1B | c.271G>A (p.Val91Met) c.172G>A (p.Val58Met) c.208-150G>A (n.208-150G>A) n.280G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35033562G>C | CA405328665 | SCN1B | c.271G>C (p.Val91Leu) c.172G>C (p.Val58Leu) c.208-150G>C (n.208-150G>C) n.280G>C | |
19 | g.35033562G= | CA2333466998 | SCN1B | c.271G= (p.Val91=) c.172G= (p.Val58=) c.208-150G= (n.208-150G=) n.280G= | |
19 | g.35033562G>T | CA405328666 | SCN1B | c.271G>T (p.Val91Leu) c.172G>T (p.Val58Leu) c.208-150G>T (n.208-150G>T) n.280G>T | |
19 | g.35033563T>A | CA405328667 | SCN1B | c.272T>A (p.Val91Glu) c.173T>A (p.Val58Glu) c.208-149T>A (n.208-149T>A) n.281T>A | |
19 | g.35033563T>C | CA405328668 | SCN1B | c.272T>C (p.Val91Ala) c.173T>C (p.Val58Ala) c.208-149T>C (n.208-149T>C) n.281T>C | |
19 | g.35033563T>G | CA405328669 | SCN1B | c.272T>G (p.Val91Gly) c.173T>G (p.Val58Gly) c.208-149T>G (n.208-149T>G) n.281T>G | |
19 | g.35033564G>A | CA9372000 | SCN1B | c.273G>A (p.Val91=) c.174G>A (p.Val58=) c.208-148G>A (n.208-148G>A) n.282G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35033564G>C | CA507297962 | SCN1B | c.273G>C (p.Val91=) c.174G>C (p.Val58=) c.208-148G>C (n.208-148G>C) n.282G>C | |
19 | g.35033564G= | CA2333466999 | SCN1B | c.273G= (p.Val91=) c.174G= (p.Val58=) c.208-148G= (n.208-148G=) n.282G= | |
19 | g.35033564G>T | CA507297963 | SCN1B | c.273G>T (p.Val91=) c.174G>T (p.Val58=) c.208-148G>T (n.208-148G>T) n.282G>T | |
19 | g.35033565T>A | CA405328672 | SCN1B | c.274T>A (p.Trp92Arg) c.175T>A (p.Trp59Arg) c.208-147T>A (n.208-147T>A) n.283T>A | |
19 | g.35033565T>C | CA405328670 | SCN1B | c.274T>C (p.Trp92Arg) c.175T>C (p.Trp59Arg) c.208-147T>C (n.208-147T>C) n.283T>C | ClinVar dbSNP |
19 | g.35033565T>G | CA405328671 | SCN1B | c.274T>G (p.Trp92Gly) c.175T>G (p.Trp59Gly) c.208-147T>G (n.208-147T>G) n.283T>G | |
19 | g.35033566G>A | CA405328673 | SCN1B | c.275G>A (p.Trp92Ter) c.176G>A (p.Trp59Ter) c.208-146G>A (n.208-146G>A) n.284G>A | |
19 | g.35033566G>C | CA405328674 | SCN1B | c.275G>C (p.Trp92Ser) c.176G>C (p.Trp59Ser) c.208-146G>C (n.208-146G>C) n.284G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35033566G= | CA2333467000 | SCN1B | c.275G= (p.Trp92=) c.176G= (p.Trp59=) c.208-146G= (n.208-146G=) n.284G= | |
19 | g.35033566G>T | CA405328675 | SCN1B | c.275G>T (p.Trp92Leu) c.176G>T (p.Trp59Leu) c.208-146G>T (n.208-146G>T) n.284G>T | |
19 | g.35033567G>A | CA405328676 | SCN1B | c.276G>A (p.Trp92Ter) c.177G>A (p.Trp59Ter) c.208-145G>A (n.208-145G>A) n.285G>A | dbSNP |
19 | g.35033567G>C | CA405328677 | SCN1B | c.276G>C (p.Trp92Cys) c.177G>C (p.Trp59Cys) c.208-145G>C (n.208-145G>C) n.285G>C | |
19 | g.35033567G= | CA2333467001 | SCN1B | c.276G= (p.Trp92=) c.177G= (p.Trp59=) c.208-145G= (n.208-145G=) n.285G= | |
19 | g.35033567G>T | CA405328678 | SCN1B | c.276G>T (p.Trp92Cys) c.177G>T (p.Trp59Cys) c.208-145G>T (n.208-145G>T) n.285G>T | |
19 | g.35033568A>C | CA405328679 | SCN1B | c.277A>C (p.Asn93His) c.178A>C (p.Asn60His) c.208-144A>C (n.208-144A>C) n.286A>C | |
19 | g.35033568A>G | CA405328680 | SCN1B | c.277A>G (p.Asn93Asp) c.178A>G (p.Asn60Asp) c.208-144A>G (n.208-144A>G) n.286A>G | |
19 | g.35033568A>T | CA405328681 | SCN1B | c.277A>T (p.Asn93Tyr) c.178A>T (p.Asn60Tyr) c.208-144A>T (n.208-144A>T) n.286A>T | gnomAD v4 |
19 | g.35033569A= | CA2333467002 | SCN1B | c.278A= (p.Asn93=) c.179A= (p.Asn60=) c.208-143A= (n.208-143A=) n.287A= | |
19 | g.35033569A>C | CA405328682 | SCN1B | c.278A>C (p.Asn93Thr) c.179A>C (p.Asn60Thr) c.208-143A>C (n.208-143A>C) n.287A>C | |
19 | g.35033569A>G | CA405328683 | SCN1B | c.278A>G (p.Asn93Ser) c.179A>G (p.Asn60Ser) c.208-143A>G (n.208-143A>G) n.287A>G | dbSNP |
19 | g.35033569A>T | CA405328684 | SCN1B | c.278A>T (p.Asn93Ile) c.179A>T (p.Asn60Ile) c.208-143A>T (n.208-143A>T) n.287A>T | |
19 | g.35033570T>A | CA405328685 | SCN1B | c.279T>A (p.Asn93Lys) c.180T>A (p.Asn60Lys) c.208-142T>A (n.208-142T>A) n.288T>A | |
19 | g.35033570T>C | CA507297964 | SCN1B | c.279T>C (p.Asn93=) c.180T>C (p.Asn60=) c.208-142T>C (n.208-142T>C) n.288T>C | |
19 | g.35033570T>G | CA405328686 | SCN1B | c.279T>G (p.Asn93Lys) c.180T>G (p.Asn60Lys) c.208-142T>G (n.208-142T>G) n.288T>G | |
19 | g.35033571G>A | CA405328687 | SCN1B | c.280G>A (p.Gly94Ser) c.181G>A (p.Gly61Ser) c.208-141G>A (n.208-141G>A) n.289G>A | |
19 | g.35033571G>C | CA405328688 | SCN1B | c.280G>C (p.Gly94Arg) c.181G>C (p.Gly61Arg) c.208-141G>C (n.208-141G>C) n.289G>C | |
19 | g.35033571G>T | CA405328689 | SCN1B | c.280G>T (p.Gly94Cys) c.181G>T (p.Gly61Cys) c.208-141G>T (n.208-141G>T) n.289G>T | |
19 | g.35033572G>A | CA405328690 | SCN1B | c.281G>A (p.Gly94Asp) c.182G>A (p.Gly61Asp) c.208-140G>A (n.208-140G>A) n.290G>A | |
19 | g.35033572G>C | CA405328691 | SCN1B | c.281G>C (p.Gly94Ala) c.182G>C (p.Gly61Ala) c.208-140G>C (n.208-140G>C) n.290G>C | |
19 | g.35033572G>T | CA405328692 | SCN1B | c.281G>T (p.Gly94Val) c.182G>T (p.Gly61Val) c.208-140G>T (n.208-140G>T) n.290G>T | ClinVar dbSNP |
19 | g.35033573C>A | CA507297965 | SCN1B | c.282C>A (p.Gly94=) c.183C>A (p.Gly61=) c.208-139C>A (n.208-139C>A) n.291C>A | |
19 | g.35033573C>G | CA507297967 | SCN1B | c.282C>G (p.Gly94=) c.183C>G (p.Gly61=) c.208-139C>G (n.208-139C>G) n.291C>G | |
19 | g.35033573C>T | CA507297966 | SCN1B | c.282C>T (p.Gly94=) c.183C>T (p.Gly61=) c.208-139C>T (n.208-139C>T) n.291C>T | gnomAD v4 |
19 | g.35033574A>C | CA405328693 | SCN1B | c.283A>C (p.Ser95Arg) c.184A>C (p.Ser62Arg) c.208-138A>C (n.208-138A>C) n.292A>C | |
19 | g.35033574A>G | CA405328694 | SCN1B | c.283A>G (p.Ser95Gly) c.184A>G (p.Ser62Gly) c.208-138A>G (n.208-138A>G) n.292A>G | |
19 | g.35033574A>T | CA405328695 | SCN1B | c.283A>T (p.Ser95Cys) c.184A>T (p.Ser62Cys) c.208-138A>T (n.208-138A>T) n.292A>T | |
19 | g.35033575G>A | CA405328696 | SCN1B | c.284G>A (p.Ser95Asn) c.185G>A (p.Ser62Asn) c.208-137G>A (n.208-137G>A) n.293G>A | ClinVar dbSNP |
19 | g.35033575G>C | CA405328697 | SCN1B | c.284G>C (p.Ser95Thr) c.185G>C (p.Ser62Thr) c.208-137G>C (n.208-137G>C) n.293G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35033575G= | CA2333467003 | SCN1B | c.284G= (p.Ser95=) c.185G= (p.Ser62=) c.208-137G= (n.208-137G=) n.293G= | |
19 | g.35033575G>T | CA405328698 | SCN1B | c.284G>T (p.Ser95Ile) c.185G>T (p.Ser62Ile) c.208-137G>T (n.208-137G>T) n.293G>T | |
19 | g.35033576C>A | CA405328699 | SCN1B | c.285C>A (p.Ser95Arg) c.186C>A (p.Ser62Arg) c.208-136C>A (n.208-136C>A) n.294C>A | |
19 | g.35033576C= | CA2333467004 | SCN1B | c.285C= (p.Ser95=) c.186C= (p.Ser62=) c.208-136C= (n.208-136C=) n.294C= |