Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806295A>CCA479787994SCN8Ac.4809A>C (p.Ala1603=)
c.2873A>C
c.4686A>C (p.Ala1562=)
c.4842A>C (p.Ala1614=)
12g.51806295A>GCA479787995SCN8Ac.4809A>G (p.Ala1603=)
c.2873A>G
c.4686A>G (p.Ala1562=)
c.4842A>G (p.Ala1614=)
 COSMIC COSMIC
12g.51806295A>TCA479787996SCN8Ac.4809A>T (p.Ala1603=)
c.2873A>T
c.4686A>T (p.Ala1562=)
c.4842A>T (p.Ala1614=)
12g.51806296G>ACA384880285SCN8Ac.4810G>A (p.Asp1604Asn)
c.2874G>A
c.4687G>A (p.Asp1563Asn)
c.4843G>A (p.Asp1615Asn)
12g.51806296G>CCA384880284SCN8Ac.4810G>C (p.Asp1604His)
c.2874G>C
c.4687G>C (p.Asp1563His)
c.4843G>C (p.Asp1615His)
12g.51806296G>TCA384880283SCN8Ac.4810G>T (p.Asp1604Tyr)
c.2874G>T
c.4687G>T (p.Asp1563Tyr)
c.4843G>T (p.Asp1615Tyr)
12g.51806297A>CCA384880288SCN8Ac.4811A>C (p.Asp1604Ala)
c.2875A>C
c.4688A>C (p.Asp1563Ala)
c.4844A>C (p.Asp1615Ala)
12g.51806297A>GCA384880286SCN8Ac.4811A>G (p.Asp1604Gly)
c.2875A>G
c.4688A>G (p.Asp1563Gly)
c.4844A>G (p.Asp1615Gly)
12g.51806297A>TCA384880287SCN8Ac.4811A>T (p.Asp1604Val)
c.2875A>T
c.4688A>T (p.Asp1563Val)
c.4844A>T (p.Asp1615Val)
12g.51806298T>ACA384880289SCN8Ac.4812T>A (p.Asp1604Glu)
c.2876T>A
c.4689T>A (p.Asp1563Glu)
c.4845T>A (p.Asp1615Glu)
12g.51806298T>CCA479787997SCN8Ac.4812T>C (p.Asp1604=)
c.2876T>C
c.4689T>C (p.Asp1563=)
c.4845T>C (p.Asp1615=)
 dbSNP
12g.51806298T>GCA384880290SCN8Ac.4812T>G (p.Asp1604Glu)
c.2876T>G
c.4689T>G (p.Asp1563Glu)
c.4845T>G (p.Asp1615Glu)
12g.51806298T=CA2036192701SCN8Ac.4812T= (p.Asp1604=)
c.2876T=
c.4689T= (p.Asp1563=)
c.4845T= (p.Asp1615=)
12g.51806299A=CA2036192710SCN8Ac.4813A= (p.Ile1605=)
c.2877A=
c.4690A= (p.Ile1564=)
c.4846A= (p.Ile1616=)
12g.51806299A>CCA384880291SCN8Ac.4813A>C (p.Ile1605Leu)
c.2877A>C
c.4690A>C (p.Ile1564Leu)
c.4846A>C (p.Ile1616Leu)
12g.51806299A>GCA10586304SCN8Ac.4813A>G (p.Ile1605Val)
c.2877A>G
c.4690A>G (p.Ile1564Val)
c.4846A>G (p.Ile1616Val)
 ClinVar dbSNP
12g.51806299A>TCA384880292SCN8Ac.4813A>T (p.Ile1605Leu)
c.2877A>T
c.4690A>T (p.Ile1564Leu)
c.4846A>T (p.Ile1616Leu)
12g.51806300T>ACA384880293SCN8Ac.4814T>A (p.Ile1605Lys)
c.2878T>A
c.4691T>A (p.Ile1564Lys)
c.4847T>A (p.Ile1616Lys)
12g.51806300T>CCA384880295SCN8Ac.4814T>C (p.Ile1605Thr)
c.2878T>C
c.4691T>C (p.Ile1564Thr)
c.4847T>C (p.Ile1616Thr)
 ClinVar dbSNP
12g.51806300T>GCA384880294SCN8Ac.4814T>G (p.Ile1605Arg)
c.2878T>G
c.4691T>G (p.Ile1564Arg)
c.4847T>G (p.Ile1616Arg)
12g.51806301A>CCA479787998SCN8Ac.4815A>C (p.Ile1605=)
c.2879A>C
c.4692A>C (p.Ile1564=)
c.4848A>C (p.Ile1616=)
12g.51806301A>GCA384880296SCN8Ac.4815A>G (p.Ile1605Met)
c.2879A>G
c.4692A>G (p.Ile1564Met)
c.4848A>G (p.Ile1616Met)
12g.51806301A>TCA479787999SCN8Ac.4815A>T (p.Ile1605=)
c.2879A>T
c.4692A>T (p.Ile1564=)
c.4848A>T (p.Ile1616=)
12g.51806302A>CCA384880297SCN8Ac.4816A>C (p.Ile1606Leu)
c.2880A>C
c.4693A>C (p.Ile1565Leu)
c.4849A>C (p.Ile1617Leu)
12g.51806302A>GCA384880298SCN8Ac.4816A>G (p.Ile1606Val)
c.2880A>G
c.4693A>G (p.Ile1565Val)
c.4849A>G (p.Ile1617Val)
12g.51806302A>TCA384880299SCN8Ac.4816A>T (p.Ile1606Phe)
c.2880A>T
c.4693A>T (p.Ile1565Phe)
c.4849A>T (p.Ile1617Phe)
12g.51806303T>ACA384880300SCN8Ac.4817T>A (p.Ile1606Asn)
c.2881T>A
c.4694T>A (p.Ile1565Asn)
c.4850T>A (p.Ile1617Asn)
12g.51806303T>CCA384880302SCN8Ac.4817T>C (p.Ile1606Thr)
c.2881T>C
c.4694T>C (p.Ile1565Thr)
c.4850T>C (p.Ile1617Thr)
 ClinVar dbSNP
12g.51806303T>GCA384880301SCN8Ac.4817T>G (p.Ile1606Ser)
c.2881T>G
c.4694T>G (p.Ile1565Ser)
c.4850T>G (p.Ile1617Ser)
12g.51806304T>ACA479788000SCN8Ac.4818T>A (p.Ile1606=)
c.2882T>A
c.4695T>A (p.Ile1565=)
c.4851T>A (p.Ile1617=)
12g.51806304T>CCA479788001SCN8Ac.4818T>C (p.Ile1606=)
c.2882T>C
c.4695T>C (p.Ile1565=)
c.4851T>C (p.Ile1617=)
12g.51806304T>GCA384880303SCN8Ac.4818T>G (p.Ile1606Met)
c.2882T>G
c.4695T>G (p.Ile1565Met)
c.4851T>G (p.Ile1617Met)
12g.51806305G>ACA384880304SCN8Ac.4819G>A (p.Glu1607Lys)
c.2883G>A
c.4696G>A (p.Glu1566Lys)
c.4852G>A (p.Glu1618Lys)
 ClinVar dbSNP COSMIC COSMIC
12g.51806305G>CCA384880305SCN8Ac.4819G>C (p.Glu1607Gln)
c.2883G>C
c.4696G>C (p.Glu1566Gln)
c.4852G>C (p.Glu1618Gln)
 COSMIC COSMIC
12g.51806305G=CA2036192718SCN8Ac.4819G= (p.Glu1607=)
c.2883G=
c.4696G= (p.Glu1566=)
c.4852G= (p.Glu1618=)
12g.51806305G>TCA384880306SCN8Ac.4819G>T (p.Glu1607Ter)
c.2883G>T
c.4696G>T (p.Glu1566Ter)
c.4852G>T (p.Glu1618Ter)
 dbSNP
12g.51806306A>CCA384880307SCN8Ac.4820A>C (p.Glu1607Ala)
c.2884A>C
c.4697A>C (p.Glu1566Ala)
c.4853A>C (p.Glu1618Ala)
12g.51806306A>GCA384880308SCN8Ac.4820A>G (p.Glu1607Gly)
c.2884A>G
c.4697A>G (p.Glu1566Gly)
c.4853A>G (p.Glu1618Gly)
12g.51806306A>TCA384880309SCN8Ac.4820A>T (p.Glu1607Val)
c.2884A>T
c.4697A>T (p.Glu1566Val)
c.4853A>T (p.Glu1618Val)
12g.51806307G>ACA479788003SCN8Ac.4821G>A (p.Glu1607=)
c.2885G>A
c.4698G>A (p.Glu1566=)
c.4854G>A (p.Glu1618=)
12g.51806307G>CCA384880310SCN8Ac.4821G>C (p.Glu1607Asp)
c.2885G>C
c.4698G>C (p.Glu1566Asp)
c.4854G>C (p.Glu1618Asp)
12g.51806307G>TCA384880311SCN8Ac.4821G>T (p.Glu1607Asp)
c.2885G>T
c.4698G>T (p.Glu1566Asp)
c.4854G>T (p.Glu1618Asp)
12g.51806308A>CCA384880312SCN8Ac.4822A>C (p.Lys1608Gln)
c.2886A>C
c.4699A>C (p.Lys1567Gln)
c.4855A>C (p.Lys1619Gln)
12g.51806308A>GCA384880313SCN8Ac.4822A>G (p.Lys1608Glu)
c.2886A>G
c.4699A>G (p.Lys1567Glu)
c.4855A>G (p.Lys1619Glu)
12g.51806308A>TCA384880314SCN8Ac.4822A>T (p.Lys1608Ter)
c.2886A>T
c.4699A>T (p.Lys1567Ter)
c.4855A>T (p.Lys1619Ter)
12g.51806309A>CCA384880317SCN8Ac.4823A>C (p.Lys1608Thr)
c.2887A>C
c.4700A>C (p.Lys1567Thr)
c.4856A>C (p.Lys1619Thr)
 gnomAD v4
12g.51806309A>GCA384880316SCN8Ac.4823A>G (p.Lys1608Arg)
c.2887A>G
c.4700A>G (p.Lys1567Arg)
c.4856A>G (p.Lys1619Arg)
12g.51806309A>TCA384880315SCN8Ac.4823A>T (p.Lys1608Ile)
c.2887A>T
c.4700A>T (p.Lys1567Ile)
c.4856A>T (p.Lys1619Ile)
12g.51806310A=CA2036192728SCN8Ac.4824A= (p.Lys1608=)
c.2888A=
c.4701A= (p.Lys1567=)
c.4857A= (p.Lys1619=)
12g.51806310A>CCA384880318SCN8Ac.4824A>C (p.Lys1608Asn)
c.2888A>C
c.4701A>C (p.Lys1567Asn)
c.4857A>C (p.Lys1619Asn)

Number of alleles fetched