Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.232542992C>ACA351011980CHRNGc.715C>A (p.Arg239Ser)
c.559C>A (p.Arg187Ser)
2g.232542992C=CA1335317523CHRNGc.715C= (p.Arg239=)
c.559C= (p.Arg187=)
2g.232542992C>GCA351011987CHRNGc.715C>G (p.Arg239Gly)
c.559C>G (p.Arg187Gly)
2g.232542992C>TCA128049CHRNGc.715C>T (p.Arg239Cys)
c.559C>T (p.Arg187Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542993G>ACA2168775CHRNGc.716G>A (p.Arg239His)
c.560G>A (p.Arg187His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.232542993G>CCA351011989CHRNGc.716G>C (p.Arg239Pro)
c.560G>C (p.Arg187Pro)
2g.232542993G=CA1335317524CHRNGc.716G= (p.Arg239=)
c.560G= (p.Arg187=)
2g.232542993G>TCA351011993CHRNGc.716G>T (p.Arg239Leu)
c.560G>T (p.Arg187Leu)
2g.232542994C>ACA431810957CHRNGc.717C>A (p.Arg239=)
c.561C>A (p.Arg187=)
2g.232542994C=CA1335317525CHRNGc.717C= (p.Arg239=)
c.561C= (p.Arg187=)
2g.232542994C>GCA2168776CHRNGc.717C>G (p.Arg239=)
c.561C>G (p.Arg187=)
 dbSNP ExAC gnomAD v2
2g.232542994C>TCA431810958CHRNGc.717C>T (p.Arg239=)
c.561C>T (p.Arg187=)
 gnomAD v4
2g.232542995A>CCA351012003CHRNGc.718A>C (p.Lys240Gln)
c.562A>C (p.Lys188Gln)
2g.232542995A>GCA351012014CHRNGc.718A>G (p.Lys240Glu)
c.562A>G (p.Lys188Glu)
2g.232542995A>TCA351012005CHRNGc.718A>T (p.Lys240Ter)
c.562A>T (p.Lys188Ter)
2g.232542996A>CCA351012019CHRNGc.719A>C (p.Lys240Thr)
c.563A>C (p.Lys188Thr)
2g.232542996A>GCA351012021CHRNGc.719A>G (p.Lys240Arg)
c.563A>G (p.Lys188Arg)
2g.232542996A>TCA351012023CHRNGc.719A>T (p.Lys240Met)
c.563A>T (p.Lys188Met)
2g.232542997G>ACA431810960CHRNGc.720G>A (p.Lys240=)
c.564G>A (p.Lys188=)
 gnomAD v4
2g.232542997G>CCA351012026CHRNGc.720G>C (p.Lys240Asn)
c.564G>C (p.Lys188Asn)
2g.232542997G=CA1335317526CHRNGc.720G= (p.Lys240=)
c.564G= (p.Lys188=)
2g.232542997G>TCA66968560CHRNGc.720G>T (p.Lys240Asn)
c.564G>T (p.Lys188Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.232542998C>ACA351012037CHRNGc.721C>A (p.Pro241Thr)
c.565C>A (p.Pro189Thr)
2g.232542998C>GCA351012040CHRNGc.721C>G (p.Pro241Ala)
c.565C>G (p.Pro189Ala)
2g.232542998C>TCA351012042CHRNGc.721C>T (p.Pro241Ser)
c.565C>T (p.Pro189Ser)
2g.232542999C>ACA2168777CHRNGc.722C>A (p.Pro241His)
c.566C>A (p.Pro189His)
 dbSNP ExAC gnomAD v2
2g.232542999C=CA1335317527CHRNGc.722C= (p.Pro241=)
c.566C= (p.Pro189=)
2g.232542999C>GCA351012046CHRNGc.722C>G (p.Pro241Arg)
c.566C>G (p.Pro189Arg)
2g.232542999C>TCA351012047CHRNGc.722C>T (p.Pro241Leu)
c.566C>T (p.Pro189Leu)
2g.232543000C>ACA431810961CHRNGc.723C>A (p.Pro241=)
c.567C>A (p.Pro189=)
2g.232543000C>GCA431810962CHRNGc.723C>G (p.Pro241=)
c.567C>G (p.Pro189=)
2g.232543000C>TCA431810963CHRNGc.723C>T (p.Pro241=)
c.567C>T (p.Pro189=)
2g.232543001_232543003delCA2663625800CHRNGc.724_726del (p.Leu242del)
c.568_570del (p.Leu190del)
 gnomAD v4
2g.232543001C>ACA351012054CHRNGc.724C>A (p.Leu242Ile)
c.568C>A (p.Leu190Ile)
2g.232543001C>GCA351012053CHRNGc.724C>G (p.Leu242Val)
c.568C>G (p.Leu190Val)
2g.232543001C>TCA351012050CHRNGc.724C>T (p.Leu242Phe)
c.568C>T (p.Leu190Phe)
2g.232543002delCA2663625802CHRNGc.725del (p.Leu242ProfsTer?)
c.569del (p.Leu190ProfsTer?)
 gnomAD v4
2g.232543002T>ACA351012057CHRNGc.725T>A (p.Leu242His)
c.569T>A (p.Leu190His)
2g.232543002T>CCA351012060CHRNGc.725T>C (p.Leu242Pro)
c.569T>C (p.Leu190Pro)
2g.232543002T>GCA351012061CHRNGc.725T>G (p.Leu242Arg)
c.569T>G (p.Leu190Arg)
2g.232543003C>ACA431810964CHRNGc.726C>A (p.Leu242=)
c.570C>A (p.Leu190=)
2g.232543003C=CA1335317528CHRNGc.726C= (p.Leu242=)
c.570C= (p.Leu190=)
2g.232543003C>GCA431810965CHRNGc.726C>G (p.Leu242=)
c.570C>G (p.Leu190=)
2g.232543003C>TCA431810966CHRNGc.726C>T (p.Leu242=)
c.570C>T (p.Leu190=)
 dbSNP
2g.232543004T>ACA351012062CHRNGc.727T>A (p.Phe243Ile)
c.571T>A (p.Phe191Ile)
2g.232543004T>CCA351012064CHRNGc.727T>C (p.Phe243Leu)
c.571T>C (p.Phe191Leu)
2g.232543004T>GCA351012065CHRNGc.727T>G (p.Phe243Val)
c.571T>G (p.Phe191Val)
2g.232543005T>ACA351012069CHRNGc.728T>A (p.Phe243Tyr)
c.572T>A (p.Phe191Tyr)
2g.232543005T>CCA351012067CHRNGc.728T>C (p.Phe243Ser)
c.572T>C (p.Phe191Ser)
2g.232543005T>GCA351012068CHRNGc.728T>G (p.Phe243Cys)
c.572T>G (p.Phe191Cys)

Number of alleles fetched