Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35033557G>A | CA302155 | SCN1B | c.266G>A (p.Arg89His) c.167G>A (p.Arg56His) c.208-155G>A (n.208-155G>A) n.275G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35033557G>C | CA405328658 | SCN1B | c.266G>C (p.Arg89Pro) c.167G>C (p.Arg56Pro) c.208-155G>C (n.208-155G>C) n.275G>C | |
19 | g.35033557G= | CA2333466995 | SCN1B | c.266G= (p.Arg89=) c.167G= (p.Arg56=) c.208-155G= (n.208-155G=) n.275G= | |
19 | g.35033557G>T | CA405328657 | SCN1B | c.266G>T (p.Arg89Leu) c.167G>T (p.Arg56Leu) c.208-155G>T (n.208-155G>T) n.275G>T | |
19 | g.35033558C>A | CA507297957 | SCN1B | c.267C>A (p.Arg89=) c.168C>A (p.Arg56=) c.208-154C>A (n.208-154C>A) n.276C>A | |
19 | g.35033558C= | CA2333466996 | SCN1B | c.267C= (p.Arg89=) c.168C= (p.Arg56=) c.208-154C= (n.208-154C=) n.276C= | |
19 | g.35033558C>G | CA507297958 | SCN1B | c.267C>G (p.Arg89=) c.168C>G (p.Arg56=) c.208-154C>G (n.208-154C>G) n.276C>G | |
19 | g.35033558C>T | CA293207 | SCN1B | c.267C>T (p.Arg89=) c.168C>T (p.Arg56=) c.208-154C>T (n.208-154C>T) n.276C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35033559G>A | CA9371999 | SCN1B | c.268G>A (p.Val90Met) c.169G>A (p.Val57Met) c.208-153G>A (n.208-153G>A) n.277G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35033559G>C | CA405328659 | SCN1B | c.268G>C (p.Val90Leu) c.169G>C (p.Val57Leu) c.208-153G>C (n.208-153G>C) n.277G>C | |
19 | g.35033559G= | CA2333466997 | SCN1B | c.268G= (p.Val90=) c.169G= (p.Val57=) c.208-153G= (n.208-153G=) n.277G= | |
19 | g.35033559G>T | CA405328660 | SCN1B | c.268G>T (p.Val90Leu) c.169G>T (p.Val57Leu) c.208-153G>T (n.208-153G>T) n.277G>T | |
19 | g.35033560T>A | CA405328661 | SCN1B | c.269T>A (p.Val90Glu) c.170T>A (p.Val57Glu) c.208-152T>A (n.208-152T>A) n.278T>A | |
19 | g.35033560T>C | CA405328662 | SCN1B | c.269T>C (p.Val90Ala) c.170T>C (p.Val57Ala) c.208-152T>C (n.208-152T>C) n.278T>C | COSMIC COSMIC |
19 | g.35033560T>G | CA405328663 | SCN1B | c.269T>G (p.Val90Gly) c.170T>G (p.Val57Gly) c.208-152T>G (n.208-152T>G) n.278T>G | |
19 | g.35033561G>A | CA507297961 | SCN1B | c.270G>A (p.Val90=) c.171G>A (p.Val57=) c.208-151G>A (n.208-151G>A) n.279G>A | |
19 | g.35033561G>C | CA507297960 | SCN1B | c.270G>C (p.Val90=) c.171G>C (p.Val57=) c.208-151G>C (n.208-151G>C) n.279G>C | |
19 | g.35033561G>T | CA507297959 | SCN1B | c.270G>T (p.Val90=) c.171G>T (p.Val57=) c.208-151G>T (n.208-151G>T) n.279G>T | |
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 |