Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51765673_51765675delCA947681526SCN8Ac.2547_2549del (p.Arg850del)
c.394_396del
c.551_553del
n.2675_2677del
c.2580_2582del (p.Arg861del)
gnomAD v3 gnomAD v4
12g.51765675G>ACA163107SCN8Ac.2549G>A (p.Arg850Gln)
c.396G>A
c.553G>A
n.2677G>A
c.2582G>A (p.Arg861Gln)
ClinVar dbSNP gnomAD v4
12g.51765675G>CCA384886490SCN8Ac.2549G>C (p.Arg850Pro)
c.396G>C
c.553G>C
n.2677G>C
c.2582G>C (p.Arg861Pro)
gnomAD v4
12g.51765675G=CA2036183871SCN8Ac.2549G= (p.Arg850=)
c.396G=
c.553G=
n.2677G=
c.2582G= (p.Arg861=)
12g.51765675G>TCA384886499SCN8Ac.2549G>T (p.Arg850Leu)
c.396G>T
c.553G>T
n.2677G>T
c.2582G>T (p.Arg861Leu)
gnomAD v3 gnomAD v4
12g.51765676A=CA2036183880SCN8Ac.2550A= (p.Arg850=)
c.397A=
c.554A=
n.2678A=
c.2583A= (p.Arg861=)
12g.51765676A>CCA236317086SCN8Ac.2550A>C (p.Arg850=)
c.397A>C
c.554A>C
n.2678A>C
c.2583A>C (p.Arg861=)
dbSNP gnomAD v4
12g.51765676A>GCA480061048SCN8Ac.2550A>G (p.Arg850=)
c.397A>G
c.554A>G
n.2678A>G
c.2583A>G (p.Arg861=)
gnomAD v4
12g.51765676A>TCA480061049SCN8Ac.2550A>T (p.Arg850=)
c.397A>T
c.554A>T
n.2678A>T
c.2583A>T (p.Arg861=)
gnomAD v3 gnomAD v4
12g.51765677G>ACA384886517SCN8Ac.2551G>A (p.Val851Ile)
c.398G>A
c.555G>A
n.2679G>A
c.2584G>A (p.Val862Ile)
12g.51765677G>CCA384886520SCN8Ac.2551G>C (p.Val851Leu)
c.398G>C
c.555G>C
n.2679G>C
c.2584G>C (p.Val862Leu)
ClinVar
12g.51765677G>TCA384886511SCN8Ac.2551G>T (p.Val851Phe)
c.398G>T
c.555G>T
n.2679G>T
c.2584G>T (p.Val862Phe)
gnomAD v4
12g.51765678T>ACA384886528SCN8Ac.2552T>A (p.Val851Asp)
c.399T>A
c.556T>A
n.2680T>A
c.2585T>A (p.Val862Asp)
gnomAD v4
12g.51765678T>CCA384886532SCN8Ac.2552T>C (p.Val851Ala)
c.399T>C
c.556T>C
n.2680T>C
c.2585T>C (p.Val862Ala)
gnomAD v4
12g.51765678T>GCA384886537SCN8Ac.2552T>G (p.Val851Gly)
c.399T>G
c.556T>G
n.2680T>G
c.2585T>G (p.Val862Gly)
gnomAD v4
12g.51765679C>ACA480061055SCN8Ac.2553C>A (p.Val851=)
c.400C>A
c.557C>A
n.2681C>A
c.2586C>A (p.Val862=)
gnomAD v4
12g.51765679C=CA2036183882SCN8Ac.2553C= (p.Val851=)
c.400C=
c.557C=
n.2681C=
c.2586C= (p.Val862=)
12g.51765679C>GCA480061053SCN8Ac.2553C>G (p.Val851=)
c.400C>G
c.557C>G
n.2681C>G
c.2586C>G (p.Val862=)
gnomAD v4
12g.51765679C>TCA480061054SCN8Ac.2553C>T (p.Val851=)
c.400C>T
c.557C>T
n.2681C>T
c.2586C>T (p.Val862=)
dbSNP gnomAD v3 gnomAD v4
12g.51765680T>ACA384886542SCN8Ac.2554T>A (p.Phe852Ile)
c.401T>A
c.558T>A
n.2682T>A
c.2587T>A (p.Phe863Ile)
12g.51765680T>CCA384886563SCN8Ac.2554T>C (p.Phe852Leu)
c.401T>C
c.558T>C
n.2682T>C
c.2587T>C (p.Phe863Leu)
12g.51765680T>GCA384886566SCN8Ac.2554T>G (p.Phe852Val)
c.401T>G
c.558T>G
n.2682T>G
c.2587T>G (p.Phe863Val)
12g.51765681T>ACA384886569SCN8Ac.2555T>A (p.Phe852Tyr)
c.402T>A
c.559T>A
n.2683T>A
c.2588T>A (p.Phe863Tyr)
12g.51765681T>CCA384886579SCN8Ac.2555T>C (p.Phe852Ser)
c.402T>C
c.559T>C
n.2683T>C
c.2588T>C (p.Phe863Ser)
gnomAD v4
12g.51765681T>GCA384886573SCN8Ac.2555T>G (p.Phe852Cys)
c.402T>G
c.559T>G
n.2683T>G
c.2588T>G (p.Phe863Cys)
12g.51765682C>ACA384886583SCN8Ac.2556C>A (p.Phe852Leu)
c.403C>A
c.560C>A
n.2684C>A
c.2589C>A (p.Phe863Leu)
gnomAD v4
12g.51765682C>GCA384886595SCN8Ac.2556C>G (p.Phe852Leu)
c.403C>G
c.560C>G
n.2684C>G
c.2589C>G (p.Phe863Leu)
12g.51765682C>TCA480061059SCN8Ac.2556C>T (p.Phe852=)
c.403C>T
c.560C>T
n.2684C>T
c.2589C>T (p.Phe863=)
gnomAD v3 gnomAD v4
12g.51765683A>CCA384886609SCN8Ac.2557A>C (p.Lys853Gln)
c.404A>C
c.561A>C
n.2685A>C
c.2590A>C (p.Lys864Gln)
12g.51765683A>GCA384886614SCN8Ac.2557A>G (p.Lys853Glu)
c.404A>G
c.561A>G
n.2685A>G
c.2590A>G (p.Lys864Glu)
12g.51765683A>TCA384886619SCN8Ac.2557A>T (p.Lys853Ter)
c.404A>T
c.561A>T
n.2685A>T
c.2590A>T (p.Lys864Ter)
12g.51765684A=CA2036183887SCN8Ac.2558A= (p.Lys853=)
c.405A=
c.562A=
n.2686A=
c.2591A= (p.Lys864=)
12g.51765684A>CCA384886625SCN8Ac.2558A>C (p.Lys853Thr)
c.405A>C
c.562A>C
n.2686A>C
c.2591A>C (p.Lys864Thr)
dbSNP gnomAD v3 gnomAD v4
12g.51765684A>GCA384886626SCN8Ac.2558A>G (p.Lys853Arg)
c.405A>G
c.562A>G
n.2686A>G
c.2591A>G (p.Lys864Arg)
ClinVar dbSNP
12g.51765684A>TCA384886624SCN8Ac.2558A>T (p.Lys853Ile)
c.405A>T
c.562A>T
n.2686A>T
c.2591A>T (p.Lys864Ile)
12g.51765685A>CCA384886629SCN8Ac.2559A>C (p.Lys853Asn)
c.406A>C
c.563A>C
n.2687A>C
c.2592A>C (p.Lys864Asn)
12g.51765685A>GCA480061062SCN8Ac.2559A>G (p.Lys853=)
c.406A>G
c.563A>G
n.2687A>G
c.2592A>G (p.Lys864=)
12g.51765685A>TCA384886627SCN8Ac.2559A>T (p.Lys853Asn)
c.406A>T
c.563A>T
n.2687A>T
c.2592A>T (p.Lys864Asn)
gnomAD v4
12g.51765686T>ACA384886651SCN8Ac.2560T>A (p.Leu854Met)
c.407T>A
c.564T>A
n.2688T>A
c.2593T>A (p.Leu865Met)
ClinVar dbSNP
12g.51765686T>CCA480061063SCN8Ac.2560T>C (p.Leu854=)
c.407T>C
c.564T>C
n.2688T>C
c.2593T>C (p.Leu865=)
12g.51765686T>GCA384886633SCN8Ac.2560T>G (p.Leu854Val)
c.407T>G
c.564T>G
n.2688T>G
c.2593T>G (p.Leu865Val)
12g.51765686T=CA2036183889SCN8Ac.2560T= (p.Leu854=)
c.407T=
c.564T=
n.2688T=
c.2593T= (p.Leu865=)
12g.51765687T>ACA384886660SCN8Ac.2561T>A (p.Leu854Ter)
c.408T>A
c.565T>A
n.2689T>A
c.2594T>A (p.Leu865Ter)
12g.51765687T>CCA384886663SCN8Ac.2561T>C (p.Leu854Ser)
c.408T>C
c.565T>C
n.2689T>C
c.2594T>C (p.Leu865Ser)
12g.51765687T>GCA384886668SCN8Ac.2561T>G (p.Leu854Trp)
c.408T>G
c.565T>G
n.2689T>G
c.2594T>G (p.Leu865Trp)
12g.51765688G>ACA480061064SCN8Ac.2562G>A (p.Leu854=)
c.409G>A
c.566G>A
n.2690G>A
c.2595G>A (p.Leu865=)
12g.51765688G>CCA384886674SCN8Ac.2562G>C (p.Leu854Phe)
c.409G>C
c.566G>C
n.2690G>C
c.2595G>C (p.Leu865Phe)
12g.51765688G>TCA384886680SCN8Ac.2562G>T (p.Leu854Phe)
c.409G>T
c.566G>T
n.2690G>T
c.2595G>T (p.Leu865Phe)
gnomAD v3 gnomAD v4
12g.51765689G>ACA384886683SCN8Ac.2563G>A (p.Ala855Thr)
c.410G>A
c.567G>A
n.2691G>A
c.2596G>A (p.Ala866Thr)
ClinVar dbSNP gnomAD v4
12g.51765689G>CCA384886686SCN8Ac.2563G>C (p.Ala855Pro)
c.410G>C
c.567G>C
n.2691G>C
c.2596G>C (p.Ala866Pro)

Number of alleles fetched