Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.95895082T>ACA386087336CCDC38,SNRPFc.679A>T (p.Met227Leu)
c.286+5901T>A (n.286+5901T>A)
c.187A>T (p.Met63Leu)
c.559A>T (p.Met187Leu)
c.28A>T (p.Met10Leu)
n.911A>T
12g.95895082T>CCA6726682CCDC38,SNRPFc.679A>G (p.Met227Val)
c.286+5901T>C (n.286+5901T>C)
c.187A>G (p.Met63Val)
c.559A>G (p.Met187Val)
c.28A>G (p.Met10Val)
n.911A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895082T>GCA386087335CCDC38,SNRPFc.679A>C (p.Met227Leu)
c.286+5901T>G (n.286+5901T>G)
c.187A>C (p.Met63Leu)
c.559A>C (p.Met187Leu)
c.28A>C (p.Met10Leu)
n.911A>C
12g.95895082T=CA2056438892CCDC38,SNRPFc.679A= (p.Met227=)
c.286+5901T= (n.286+5901T=)
c.187A= (p.Met63=)
c.559A= (p.Met187=)
c.28A= (p.Met10=)
n.911A=
12g.95895082_95895089delCA950745053CCDC38,SNRPFc.672_679del (p.Leu225ValfsTer20)
c.286+5901_286+5908del (n.286+5901_286+5908del)
c.180_187del (p.Leu61ValfsTer20)
c.552_559del (p.Leu185ValfsTer20)
c.21_28del (p.Leu8ValfsTer20)
n.904_911del
 gnomAD v3 gnomAD v4
12g.95895083T>ACA386087337CCDC38,SNRPFc.678A>T (p.Gln226His)
c.286+5902T>A (n.286+5902T>A)
c.186A>T (p.Gln62His)
c.558A>T (p.Gln186His)
c.27A>T (p.Gln9His)
n.910A>T
12g.95895083T>CCA481431709CCDC38,SNRPFc.678A>G (p.Gln226=)
c.286+5902T>C (n.286+5902T>C)
c.186A>G (p.Gln62=)
c.558A>G (p.Gln186=)
c.27A>G (p.Gln9=)
n.910A>G
12g.95895083T>GCA241427892CCDC38,SNRPFc.678A>C (p.Gln226His)
c.286+5902T>G (n.286+5902T>G)
c.186A>C (p.Gln62His)
c.558A>C (p.Gln186His)
c.27A>C (p.Gln9His)
n.910A>C
 dbSNP
12g.95895083T=CA2056438896CCDC38,SNRPFc.678A= (p.Gln226=)
c.286+5902T= (n.286+5902T=)
c.186A= (p.Gln62=)
c.558A= (p.Gln186=)
c.27A= (p.Gln9=)
n.910A=
12g.95895084T>ACA386087338CCDC38,SNRPFc.677A>T (p.Gln226Leu)
c.286+5903T>A (n.286+5903T>A)
c.185A>T (p.Gln62Leu)
c.557A>T (p.Gln186Leu)
c.26A>T (p.Gln9Leu)
n.909A>T
12g.95895084T>CCA6726683CCDC38,SNRPFc.677A>G (p.Gln226Arg)
c.286+5903T>C (n.286+5903T>C)
c.185A>G (p.Gln62Arg)
c.557A>G (p.Gln186Arg)
c.26A>G (p.Gln9Arg)
n.909A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895084T>GCA386087339CCDC38,SNRPFc.677A>C (p.Gln226Pro)
c.286+5903T>G (n.286+5903T>G)
c.185A>C (p.Gln62Pro)
c.557A>C (p.Gln186Pro)
c.26A>C (p.Gln9Pro)
n.909A>C
12g.95895084T=CA2056438900CCDC38,SNRPFc.677A= (p.Gln226=)
c.286+5903T= (n.286+5903T=)
c.185A= (p.Gln62=)
c.557A= (p.Gln186=)
c.26A= (p.Gln9=)
n.909A=
12g.95895085G>ACA386087340CCDC38,SNRPFc.676C>T (p.Gln226Ter)
c.286+5904G>A (n.286+5904G>A)
c.184C>T (p.Gln62Ter)
c.556C>T (p.Gln186Ter)
c.25C>T (p.Gln9Ter)
n.908C>T
 gnomAD v4
12g.95895085G>CCA386087341CCDC38,SNRPFc.676C>G (p.Gln226Glu)
c.286+5904G>C (n.286+5904G>C)
c.184C>G (p.Gln62Glu)
c.556C>G (p.Gln186Glu)
c.25C>G (p.Gln9Glu)
n.908C>G
12g.95895085G>TCA386087342CCDC38,SNRPFc.676C>A (p.Gln226Lys)
c.286+5904G>T (n.286+5904G>T)
c.184C>A (p.Gln62Lys)
c.556C>A (p.Gln186Lys)
c.25C>A (p.Gln9Lys)
n.908C>A
12g.95895086C>ACA481431710CCDC38,SNRPFc.675G>T (p.Leu225=)
c.286+5905C>A (n.286+5905C>A)
c.183G>T (p.Leu61=)
c.555G>T (p.Leu185=)
c.24G>T (p.Leu8=)
n.907G>T
 gnomAD v4
12g.95895086C=CA2056438903CCDC38,SNRPFc.675G= (p.Leu225=)
c.286+5905C= (n.286+5905C=)
c.183G= (p.Leu61=)
c.555G= (p.Leu185=)
c.24G= (p.Leu8=)
n.907G=
12g.95895086C>GCA481431711CCDC38,SNRPFc.675G>C (p.Leu225=)
c.286+5905C>G (n.286+5905C>G)
c.183G>C (p.Leu61=)
c.555G>C (p.Leu185=)
c.24G>C (p.Leu8=)
n.907G>C
12g.95895086C>TCA481431712CCDC38,SNRPFc.675G>A (p.Leu225=)
c.286+5905C>T (n.286+5905C>T)
c.183G>A (p.Leu61=)
c.555G>A (p.Leu185=)
c.24G>A (p.Leu8=)
n.907G>A
 dbSNP gnomAD v4
12g.95895087A>CCA386087343CCDC38,SNRPFc.674T>G (p.Leu225Arg)
c.286+5906A>C (n.286+5906A>C)
c.182T>G (p.Leu61Arg)
c.554T>G (p.Leu185Arg)
c.23T>G (p.Leu8Arg)
n.906T>G
12g.95895087A>GCA386087344CCDC38,SNRPFc.674T>C (p.Leu225Pro)
c.286+5906A>G (n.286+5906A>G)
c.182T>C (p.Leu61Pro)
c.554T>C (p.Leu185Pro)
c.23T>C (p.Leu8Pro)
n.906T>C
12g.95895087A>TCA386087345CCDC38,SNRPFc.674T>A (p.Leu225Gln)
c.286+5906A>T (n.286+5906A>T)
c.182T>A (p.Leu61Gln)
c.554T>A (p.Leu185Gln)
c.23T>A (p.Leu8Gln)
n.906T>A
12g.95895088G>ACA481431713CCDC38,SNRPFc.673C>T (p.Leu225=)
c.286+5907G>A (n.286+5907G>A)
c.181C>T (p.Leu61=)
c.553C>T (p.Leu185=)
c.22C>T (p.Leu8=)
n.905C>T
12g.95895088G>CCA386087346CCDC38,SNRPFc.673C>G (p.Leu225Val)
c.286+5907G>C (n.286+5907G>C)
c.181C>G (p.Leu61Val)
c.553C>G (p.Leu185Val)
c.22C>G (p.Leu8Val)
n.905C>G
12g.95895088G=CA2056438907CCDC38,SNRPFc.673C= (p.Leu225=)
c.286+5907G= (n.286+5907G=)
c.181C= (p.Leu61=)
c.553C= (p.Leu185=)
c.22C= (p.Leu8=)
n.905C=
12g.95895088G>TCA6726684CCDC38,SNRPFc.673C>A (p.Leu225Met)
c.286+5907G>T (n.286+5907G>T)
c.181C>A (p.Leu61Met)
c.553C>A (p.Leu185Met)
c.22C>A (p.Leu8Met)
n.905C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895089C>ACA481431714CCDC38,SNRPFc.672G>T (p.Leu224=)
c.286+5908C>A (n.286+5908C>A)
c.180G>T (p.Leu60=)
c.552G>T (p.Leu184=)
c.21G>T (p.Leu7=)
n.904G>T
 gnomAD v4
12g.95895089C=CA2056438912CCDC38,SNRPFc.672G= (p.Leu224=)
c.286+5908C= (n.286+5908C=)
c.180G= (p.Leu60=)
c.552G= (p.Leu184=)
c.21G= (p.Leu7=)
n.904G=
12g.95895089C>GCA481431716CCDC38,SNRPFc.672G>C (p.Leu224=)
c.286+5908C>G (n.286+5908C>G)
c.180G>C (p.Leu60=)
c.552G>C (p.Leu184=)
c.21G>C (p.Leu7=)
n.904G>C
12g.95895089C>TCA481431715CCDC38,SNRPFc.672G>A (p.Leu224=)
c.286+5908C>T (n.286+5908C>T)
c.180G>A (p.Leu60=)
c.552G>A (p.Leu184=)
c.21G>A (p.Leu7=)
n.904G>A
 dbSNP gnomAD v2
12g.95895090A>CCA386087347CCDC38,SNRPFc.671T>G (p.Leu224Arg)
c.286+5909A>C (n.286+5909A>C)
c.179T>G (p.Leu60Arg)
c.551T>G (p.Leu184Arg)
c.20T>G (p.Leu7Arg)
n.903T>G
12g.95895090A>GCA386087349CCDC38,SNRPFc.671T>C (p.Leu224Pro)
c.286+5909A>G (n.286+5909A>G)
c.179T>C (p.Leu60Pro)
c.551T>C (p.Leu184Pro)
c.20T>C (p.Leu7Pro)
n.903T>C
12g.95895090A>TCA386087348CCDC38,SNRPFc.671T>A (p.Leu224Gln)
c.286+5909A>T (n.286+5909A>T)
c.179T>A (p.Leu60Gln)
c.551T>A (p.Leu184Gln)
c.20T>A (p.Leu7Gln)
n.903T>A
12g.95895090_95895091insAAAAAAAACA950745064CCDC38,SNRPFc.671_672insTTTTTTTT (p.Leu225PhefsTer17)
c.286+5909_286+5910insAAAAAAAA (n.286+5909_286+5910insAAAAAAAA)
c.179_180insTTTTTTTT (p.Leu61PhefsTer17)
c.551_552insTTTTTTTT (p.Leu185PhefsTer17)
c.20_21insTTTTTTTT (p.Leu8PhefsTer17)
n.903_904insTTTTTTTT
 gnomAD v3 gnomAD v4
12g.95895091G>ACA6726686CCDC38,SNRPFc.670C>T (p.Leu224=)
c.286+5910G>A (n.286+5910G>A)
c.178C>T (p.Leu60=)
c.550C>T (p.Leu184=)
c.19C>T (p.Leu7=)
n.902C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895091G>CCA386087350CCDC38,SNRPFc.670C>G (p.Leu224Val)
c.286+5910G>C (n.286+5910G>C)
c.178C>G (p.Leu60Val)
c.550C>G (p.Leu184Val)
c.19C>G (p.Leu7Val)
n.902C>G
12g.95895091G=CA2056438916CCDC38,SNRPFc.670C= (p.Leu224=)
c.286+5910G= (n.286+5910G=)
c.178C= (p.Leu60=)
c.550C= (p.Leu184=)
c.19C= (p.Leu7=)
n.902C=
12g.95895091G>TCA386087351CCDC38,SNRPFc.670C>A (p.Leu224Met)
c.286+5910G>T (n.286+5910G>T)
c.178C>A (p.Leu60Met)
c.550C>A (p.Leu184Met)
c.19C>A (p.Leu7Met)
n.902C>A
12g.95895091_95895092delinsGACA2056438920CCDC38,SNRPFc.669_670delinsTC (p.Phe223=)
c.286+5910_286+5911delinsGA (n.286+5910_286+5911delinsGA)
c.177_178delinsTC (p.Phe59=)
c.549_550delinsTC (p.Phe183=)
c.18_19delinsTC (p.Phe6=)
n.901_902delinsTC
12g.95895092A=CA2056438935CCDC38,SNRPFc.669T= (p.Phe223=)
c.286+5911A= (n.286+5911A=)
c.177T= (p.Phe59=)
c.549T= (p.Phe183=)
c.18T= (p.Phe6=)
n.901T=
12g.95895092A>CCA386087352CCDC38,SNRPFc.669T>G (p.Phe223Leu)
c.286+5911A>C (n.286+5911A>C)
c.177T>G (p.Phe59Leu)
c.549T>G (p.Phe183Leu)
c.18T>G (p.Phe6Leu)
n.901T>G
12g.95895092A>GCA481431717CCDC38,SNRPFc.669T>C (p.Phe223=)
c.286+5911A>G (n.286+5911A>G)
c.177T>C (p.Phe59=)
c.549T>C (p.Phe183=)
c.18T>C (p.Phe6=)
n.901T>C
 dbSNP gnomAD v3 gnomAD v4
12g.95895092A>TCA6726688CCDC38,SNRPFc.669T>A (p.Phe223Leu)
c.286+5911A>T (n.286+5911A>T)
c.177T>A (p.Phe59Leu)
c.549T>A (p.Phe183Leu)
c.18T>A (p.Phe6Leu)
n.901T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.95895098dupCA6726687CCDC38,SNRPFc.669dup (p.Leu224SerfsTer24)
c.286+5917dup (n.286+5917dup)
c.177dup (p.Leu60SerfsTer24)
c.549dup (p.Leu184SerfsTer24)
c.18dup (p.Leu7SerfsTer24)
n.901dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895098delCA6726685CCDC38,SNRPFc.669del (p.Leu224CysfsTer15)
c.286+5917del (n.286+5917del)
c.177del (p.Leu60CysfsTer15)
c.549del (p.Leu184CysfsTer15)
c.18del (p.Leu7CysfsTer15)
n.901del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.95895093A=CA2056438940CCDC38,SNRPFc.668T= (p.Phe223=)
c.286+5912A= (n.286+5912A=)
c.176T= (p.Phe59=)
c.548T= (p.Phe183=)
c.17T= (p.Phe6=)
n.900T=
12g.95895093A>CCA386087353CCDC38,SNRPFc.668T>G (p.Phe223Cys)
c.286+5912A>C (n.286+5912A>C)
c.176T>G (p.Phe59Cys)
c.548T>G (p.Phe183Cys)
c.17T>G (p.Phe6Cys)
n.900T>G
12g.95895093A>GCA386087354CCDC38,SNRPFc.668T>C (p.Phe223Ser)
c.286+5912A>G (n.286+5912A>G)
c.176T>C (p.Phe59Ser)
c.548T>C (p.Phe183Ser)
c.17T>C (p.Phe6Ser)
n.900T>C
 dbSNP
12g.95895093A>TCA386087355CCDC38,SNRPFc.668T>A (p.Phe223Tyr)
c.286+5912A>T (n.286+5912A>T)
c.176T>A (p.Phe59Tyr)
c.548T>A (p.Phe183Tyr)
c.17T>A (p.Phe6Tyr)
n.900T>A

Number of alleles fetched