Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806291T>ACA384880274SCN8Ac.4805T>A (p.Leu1602Gln)
c.2869T>A
c.4682T>A (p.Leu1561Gln)
c.4838T>A (p.Leu1613Gln)
12g.51806291T>CCA384880275SCN8Ac.4805T>C (p.Leu1602Pro)
c.2869T>C
c.4682T>C (p.Leu1561Pro)
c.4838T>C (p.Leu1613Pro)
12g.51806291T>GCA384880276SCN8Ac.4805T>G (p.Leu1602Arg)
c.2869T>G
c.4682T>G (p.Leu1561Arg)
c.4838T>G (p.Leu1613Arg)
12g.51806292G>ACA6571872SCN8Ac.4806G>A (p.Leu1602=)
c.2870G>A
c.4683G>A (p.Leu1561=)
c.4839G>A (p.Leu1613=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806292G>CCA479787992SCN8Ac.4806G>C (p.Leu1602=)
c.2870G>C
c.4683G>C (p.Leu1561=)
c.4839G>C (p.Leu1613=)
12g.51806292G=CA2036192691SCN8Ac.4806G= (p.Leu1602=)
c.2870G=
c.4683G= (p.Leu1561=)
c.4839G= (p.Leu1613=)
12g.51806292G>TCA479787993SCN8Ac.4806G>T (p.Leu1602=)
c.2870G>T
c.4683G>T (p.Leu1561=)
c.4839G>T (p.Leu1613=)
12g.51806293G>ACA384880277SCN8Ac.4807G>A (p.Ala1603Thr)
c.2871G>A
c.4684G>A (p.Ala1562Thr)
c.4840G>A (p.Ala1614Thr)
12g.51806293G>CCA384880278SCN8Ac.4807G>C (p.Ala1603Pro)
c.2871G>C
c.4684G>C (p.Ala1562Pro)
c.4840G>C (p.Ala1614Pro)
12g.51806293G>TCA384880279SCN8Ac.4807G>T (p.Ala1603Ser)
c.2871G>T
c.4684G>T (p.Ala1562Ser)
c.4840G>T (p.Ala1614Ser)
12g.51806294C>ACA384880280SCN8Ac.4808C>A (p.Ala1603Glu)
c.2872C>A
c.4685C>A (p.Ala1562Glu)
c.4841C>A (p.Ala1614Glu)
 gnomAD v4
12g.51806294C>GCA384880281SCN8Ac.4808C>G (p.Ala1603Gly)
c.2872C>G
c.4685C>G (p.Ala1562Gly)
c.4841C>G (p.Ala1614Gly)
12g.51806294C>TCA384880282SCN8Ac.4808C>T (p.Ala1603Val)
c.2872C>T
c.4685C>T (p.Ala1562Val)
c.4841C>T (p.Ala1614Val)
 gnomAD v4
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)

Number of alleles fetched