Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.43193833T>ACA371119970HGSNATc.1454T>A (p.Leu485Ter)
n.387T>A
c.605T>A (p.Leu202Ter)
c.558T>A
c.1262T>A (p.Leu421Ter)
c.590T>A (p.Leu197Ter)
8g.43193833T>CCA371119971HGSNATc.1454T>C (p.Leu485Ser)
n.387T>C
c.605T>C (p.Leu202Ser)
c.558T>C
c.1262T>C (p.Leu421Ser)
c.590T>C (p.Leu197Ser)
8g.43193833T>GCA371119969HGSNATc.1454T>G (p.Leu485Ter)
n.387T>G
c.605T>G (p.Leu202Ter)
c.558T>G
c.1262T>G (p.Leu421Ter)
c.590T>G (p.Leu197Ter)
8g.43193834A=CA1779760601HGSNATc.1455A= (p.Leu485=)
n.388A=
c.606A= (p.Leu202=)
c.559A=
c.1263A= (p.Leu421=)
c.591A= (p.Leu197=)
8g.43193834A>CCA371119972HGSNATc.1455A>C (p.Leu485Phe)
n.388A>C
c.606A>C (p.Leu202Phe)
c.559A>C
c.1263A>C (p.Leu421Phe)
c.591A>C (p.Leu197Phe)
8g.43193834A>GCA460579348HGSNATc.1455A>G (p.Leu485=)
n.388A>G
c.606A>G (p.Leu202=)
c.559A>G
c.1263A>G (p.Leu421=)
c.591A>G (p.Leu197=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.43193834A>TCA371119973HGSNATc.1455A>T (p.Leu485Phe)
n.388A>T
c.606A>T (p.Leu202Phe)
c.559A>T
c.1263A>T (p.Leu421Phe)
c.591A>T (p.Leu197Phe)
8g.43193834dupCA2580614355HGSNATc.1455dup (p.Gly486ArgfsTer?)
n.388dup
c.606dup (p.Gly203ArgfsTer?)
c.559dup
c.1263dup (p.Gly422ArgfsTer?)
c.591dup (p.Gly198ArgfsTer?)
 ClinVar
8g.43193835G>ACA4736882HGSNATc.1456G>A (p.Gly486Arg)
n.389G>A
c.607G>A (p.Gly203Arg)
c.560G>A
c.1264G>A (p.Gly422Arg)
c.592G>A (p.Gly198Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43193835G>CCA371119975HGSNATc.1456G>C (p.Gly486Arg)
n.389G>C
c.607G>C (p.Gly203Arg)
c.560G>C
c.1264G>C (p.Gly422Arg)
c.592G>C (p.Gly198Arg)
8g.43193835G=CA1779760602HGSNATc.1456G= (p.Gly486=)
n.389G=
c.607G= (p.Gly203=)
c.560G=
c.1264G= (p.Gly422=)
c.592G= (p.Gly198=)
8g.43193835G>TCA371119974HGSNATc.1456G>T (p.Gly486Ter)
n.389G>T
c.607G>T (p.Gly203Ter)
c.560G>T
c.1264G>T (p.Gly422Ter)
c.592G>T (p.Gly198Ter)
8g.43193836G>ACA371119976HGSNATc.1457G>A (p.Gly486Glu)
n.390G>A
c.608G>A (p.Gly203Glu)
c.561G>A
c.1265G>A (p.Gly422Glu)
c.593G>A (p.Gly198Glu)
8g.43193836G>CCA371119978HGSNATc.1457G>C (p.Gly486Ala)
n.390G>C
c.608G>C (p.Gly203Ala)
c.561G>C
c.1265G>C (p.Gly422Ala)
c.593G>C (p.Gly198Ala)
 gnomAD v4
8g.43193836G=CA1779760603HGSNATc.1457G= (p.Gly486=)
n.390G=
c.608G= (p.Gly203=)
c.561G=
c.1265G= (p.Gly422=)
c.593G= (p.Gly198=)
8g.43193836G>TCA371119977HGSNATc.1457G>T (p.Gly486Val)
n.390G>T
c.608G>T (p.Gly203Val)
c.561G>T
c.1265G>T (p.Gly422Val)
c.593G>T (p.Gly198Val)
 ClinVar dbSNP
8g.43193837A=CA1779760604HGSNATc.1458A= (p.Gly486=)
n.391A=
c.609A= (p.Gly203=)
c.562A=
c.1266A= (p.Gly422=)
c.594A= (p.Gly198=)
8g.43193837A>CCA460579359HGSNATc.1458A>C (p.Gly486=)
n.391A>C
c.609A>C (p.Gly203=)
c.562A>C
c.1266A>C (p.Gly422=)
c.594A>C (p.Gly198=)
8g.43193837A>GCA4736883HGSNATc.1458A>G (p.Gly486=)
n.391A>G
c.609A>G (p.Gly203=)
c.562A>G
c.1266A>G (p.Gly422=)
c.594A>G (p.Gly198=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43193837A>TCA460579362HGSNATc.1458A>T (p.Gly486=)
n.391A>T
c.609A>T (p.Gly203=)
c.562A>T
c.1266A>T (p.Gly422=)
c.594A>T (p.Gly198=)
8g.43193838G>ACA371119979HGSNATc.1459G>A (p.Val487Ile)
n.392G>A
c.610G>A (p.Val204Ile)
c.563G>A
c.1267G>A (p.Val423Ile)
c.595G>A (p.Val199Ile)
 gnomAD v4
8g.43193838G>CCA371119980HGSNATc.1459G>C (p.Val487Leu)
n.392G>C
c.610G>C (p.Val204Leu)
c.563G>C
c.1267G>C (p.Val423Leu)
c.595G>C (p.Val199Leu)
8g.43193838G>TCA371119981HGSNATc.1459G>T (p.Val487Phe)
n.392G>T
c.610G>T (p.Val204Phe)
c.563G>T
c.1267G>T (p.Val423Phe)
c.595G>T (p.Val199Phe)
8g.43193839T>ACA371119982HGSNATc.1460T>A (p.Val487Asp)
n.393T>A
c.611T>A (p.Val204Asp)
c.564T>A
c.1268T>A (p.Val423Asp)
c.596T>A (p.Val199Asp)
8g.43193839T>CCA371119983HGSNATc.1460T>C (p.Val487Ala)
n.393T>C
c.611T>C (p.Val204Ala)
c.564T>C
c.1268T>C (p.Val423Ala)
c.596T>C (p.Val199Ala)
8g.43193839T>GCA371119984HGSNATc.1460T>G (p.Val487Gly)
n.393T>G
c.611T>G (p.Val204Gly)
c.564T>G
c.1268T>G (p.Val423Gly)
c.596T>G (p.Val199Gly)
8g.43193840T>ACA460579371HGSNATc.1461T>A (p.Val487=)
n.394T>A
c.612T>A (p.Val204=)
c.565T>A
c.1269T>A (p.Val423=)
c.597T>A (p.Val199=)
8g.43193840T>CCA460579372HGSNATc.1461T>C (p.Val487=)
n.394T>C
c.612T>C (p.Val204=)
c.565T>C
c.1269T>C (p.Val423=)
c.597T>C (p.Val199=)
8g.43193840T>GCA460579369HGSNATc.1461T>G (p.Val487=)
n.394T>G
c.612T>G (p.Val204=)
c.565T>G
c.1269T>G (p.Val423=)
c.597T>G (p.Val199=)
8g.43193841C>ACA371119985HGSNATc.1462C>A (p.Gln488Lys)
n.395C>A
c.613C>A (p.Gln205Lys)
c.566C>A
c.1270C>A (p.Gln424Lys)
c.598C>A (p.Gln200Lys)
8g.43193841C>GCA371119986HGSNATc.1462C>G (p.Gln488Glu)
n.395C>G
c.613C>G (p.Gln205Glu)
c.566C>G
c.1270C>G (p.Gln424Glu)
c.598C>G (p.Gln200Glu)
8g.43193841C>TCA371119987HGSNATc.1462C>T (p.Gln488Ter)
n.395C>T
c.613C>T (p.Gln205Ter)
c.566C>T
c.1270C>T (p.Gln424Ter)
c.598C>T (p.Gln200Ter)
 gnomAD v4
8g.43193842A>CCA371119988HGSNATc.1463A>C (p.Gln488Pro)
n.396A>C
c.614A>C (p.Gln205Pro)
c.567A>C
c.1271A>C (p.Gln424Pro)
c.599A>C (p.Gln200Pro)
8g.43193842A>GCA371119989HGSNATc.1463A>G (p.Gln488Arg)
n.396A>G
c.614A>G (p.Gln205Arg)
c.567A>G
c.1271A>G (p.Gln424Arg)
c.599A>G (p.Gln200Arg)
8g.43193842A>TCA371119990HGSNATc.1463A>T (p.Gln488Leu)
n.396A>T
c.614A>T (p.Gln205Leu)
c.567A>T
c.1271A>T (p.Gln424Leu)
c.599A>T (p.Gln200Leu)
8g.43193843G>ACA460579380HGSNATc.1464G>A (p.Gln488=)
n.397G>A
c.615G>A (p.Gln205=)
c.568G>A
c.1272G>A (p.Gln424=)
c.600G>A (p.Gln200=)
8g.43193843G>CCA371119991HGSNATc.1464G>C (p.Gln488His)
n.397G>C
c.615G>C (p.Gln205His)
c.568G>C
c.1272G>C (p.Gln424His)
c.600G>C (p.Gln200His)
8g.43193843G>TCA371119992HGSNATc.1464G>T (p.Gln488His)
n.397G>T
c.615G>T (p.Gln205His)
c.568G>T
c.1272G>T (p.Gln424His)
c.600G>T (p.Gln200His)
8g.43193844delCA2573143123HGSNATc.1464+1del
n.398del
c.615+1del
c.568+1del
c.1272+1del
c.600+1del
 ClinVar dbSNP
8g.43193844G>ACA224187HGSNATc.1464+1G>A (n.1464+1G>A)
n.398G>A
c.615+1G>A (n.615+1G>A)
c.568+1G>A
c.1272+1G>A (n.1272+1G>A)
c.600+1G>A (n.600+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43193844G>CCA371119993HGSNATc.1464+1G>C (n.1464+1G>C)
n.398G>C
c.615+1G>C (n.615+1G>C)
c.568+1G>C
c.1272+1G>C (n.1272+1G>C)
c.600+1G>C (n.600+1G>C)
8g.43193844G=CA1779760605HGSNATc.1464+1G= (n.1464+1G=)
n.398G=
c.615+1G= (n.615+1G=)
c.568+1G=
c.1272+1G= (n.1272+1G=)
c.600+1G= (n.600+1G=)
8g.43193844G>TCA371119994HGSNATc.1464+1G>T (n.1464+1G>T)
n.398G>T
c.615+1G>T (n.615+1G>T)
c.568+1G>T
c.1272+1G>T (n.1272+1G>T)
c.600+1G>T (n.600+1G>T)
8g.43193845T>ACA371119995HGSNATc.1464+2T>A (n.1464+2T>A)
n.399T>A
c.615+2T>A (n.615+2T>A)
c.568+2T>A
c.1272+2T>A (n.1272+2T>A)
c.600+2T>A (n.600+2T>A)
8g.43193845T>CCA371119996HGSNATc.1464+2T>C (n.1464+2T>C)
n.399T>C
c.615+2T>C (n.615+2T>C)
c.568+2T>C
c.1272+2T>C (n.1272+2T>C)
c.600+2T>C (n.600+2T>C)
8g.43193845T>GCA371119997HGSNATc.1464+2T>G (n.1464+2T>G)
n.399T>G
c.615+2T>G (n.615+2T>G)
c.568+2T>G
c.1272+2T>G (n.1272+2T>G)
c.600+2T>G (n.600+2T>G)
8g.43193846A=CA1779760606HGSNATc.1464+3A= (n.1464+3A=)
n.400A=
c.615+3A= (n.615+3A=)
c.568+3A=
c.1272+3A= (n.1272+3A=)
c.600+3A= (n.600+3A=)
8g.43193846A>GCA581638362HGSNATc.1464+3A>G (n.1464+3A>G)
n.400A>G
c.615+3A>G (n.615+3A>G)
c.568+3A>G
c.1272+3A>G (n.1272+3A>G)
c.600+3A>G (n.600+3A>G)
 dbSNP gnomAD v2 gnomAD v4
8g.43193850G>ACA2687152022HGSNATc.1464+7G>A (n.1464+7G>A)
n.404G>A
c.615+7G>A (n.615+7G>A)
c.568+7G>A
c.1272+7G>A (n.1272+7G>A)
c.600+7G>A (n.600+7G>A)
 gnomAD v4
8g.43193850_43193855delinsGTTCATCA1779760607HGSNATc.1464+7_1464+12delinsGTTCAT (n.1464+7_1464+12delinsGTTCAT)
n.404_409delinsGTTCAT
c.615+7_615+12delinsGTTCAT (n.615+7_615+12delinsGTTCAT)
c.568+7_568+12delinsGTTCAT
c.1272+7_1272+12delinsGTTCAT (n.1272+7_1272+12delinsGTTCAT)
c.600+7_600+12delinsGTTCAT (n.600+7_600+12delinsGTTCAT)

Number of alleles fetched