Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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= | |
19 | g.35033576C>G | CA405328700 | SCN1B | c.285C>G (p.Ser95Arg) c.186C>G (p.Ser62Arg) c.208-136C>G (n.208-136C>G) n.294C>G | |
19 | g.35033576C>T | CA507297968 | SCN1B | c.285C>T (p.Ser95=) c.186C>T (p.Ser62=) c.208-136C>T (n.208-136C>T) n.294C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35033577C>A | CA507297969 | SCN1B | c.286C>A (p.Arg96=) c.187C>A (p.Arg63=) c.208-135C>A (n.208-135C>A) n.295C>A | ClinVar |
19 | g.35033577C= | CA2333467005 | SCN1B | c.286C= (p.Arg96=) c.187C= (p.Arg63=) c.208-135C= (n.208-135C=) n.295C= | |
19 | g.35033577C>G | CA405328701 | SCN1B | c.286C>G (p.Arg96Gly) c.187C>G (p.Arg63Gly) c.208-135C>G (n.208-135C>G) n.295C>G | |
19 | g.35033577C>T | CA9372001 | SCN1B | c.286C>T (p.Arg96Trp) c.187C>T (p.Arg63Trp) c.208-135C>T (n.208-135C>T) n.295C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.35033578G>A | CA9372002 | SCN1B | c.287G>A (p.Arg96Gln) c.188G>A (p.Arg63Gln) c.208-134G>A (n.208-134G>A) n.296G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35033578G>C | CA405328702 | SCN1B | c.287G>C (p.Arg96Pro) c.188G>C (p.Arg63Pro) c.208-134G>C (n.208-134G>C) n.296G>C | |
19 | g.35033578G= | CA2333467006 | SCN1B | c.287G= (p.Arg96=) c.188G= (p.Arg63=) c.208-134G= (n.208-134G=) n.296G= | |
19 | g.35033578G>T | CA405328703 | SCN1B | c.287G>T (p.Arg96Leu) c.188G>T (p.Arg63Leu) c.208-134G>T (n.208-134G>T) n.296G>T | |
19 | g.35033579G>A | CA507297970 | SCN1B | c.288G>A (p.Arg96=) c.189G>A (p.Arg63=) c.208-133G>A (n.208-133G>A) n.297G>A | |
19 | g.35033579G>C | CA507297971 | SCN1B | c.288G>C (p.Arg96=) c.189G>C (p.Arg63=) c.208-133G>C (n.208-133G>C) n.297G>C | |
19 | g.35033579G>T | CA507297972 | SCN1B | c.288G>T (p.Arg96=) c.189G>T (p.Arg63=) c.208-133G>T (n.208-133G>T) n.297G>T | |
19 | g.35033580G>A | CA405328704 | SCN1B | c.289G>A (p.Gly97Ser) c.190G>A (p.Gly64Ser) c.208-132G>A (n.208-132G>A) n.298G>A | ClinVar |
19 | g.35033580G>C | CA405328705 | SCN1B | c.289G>C (p.Gly97Arg) c.190G>C (p.Gly64Arg) c.208-132G>C (n.208-132G>C) n.298G>C | ClinVar |
19 | g.35033580G>T | CA405328706 | SCN1B | c.289G>T (p.Gly97Cys) c.190G>T (p.Gly64Cys) c.208-132G>T (n.208-132G>T) n.298G>T | |
19 | g.35033581G>A | CA405328707 | SCN1B | c.290G>A (p.Gly97Asp) c.191G>A (p.Gly64Asp) c.208-131G>A (n.208-131G>A) n.299G>A | ClinVar dbSNP gnomAD v4 |
19 | g.35033581G>C | CA405328708 | SCN1B | c.290G>C (p.Gly97Ala) c.191G>C (p.Gly64Ala) c.208-131G>C (n.208-131G>C) n.299G>C | ClinVar dbSNP |