Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.51806310A>GCA479788004SCN8Ac.4824A>G (p.Lys1608=)
c.2888A>G
c.4701A>G (p.Lys1567=)
c.4857A>G (p.Lys1619=)
 dbSNP gnomAD v4
12g.51806310A>TCA384880319SCN8Ac.4824A>T (p.Lys1608Asn)
c.2888A>T
c.4701A>T (p.Lys1567Asn)
c.4857A>T (p.Lys1619Asn)
12g.51806311T>ACA384880320SCN8Ac.4825T>A (p.Tyr1609Asn)
c.2889T>A
c.4702T>A (p.Tyr1568Asn)
c.4858T>A (p.Tyr1620Asn)
12g.51806311T>CCA384880321SCN8Ac.4825T>C (p.Tyr1609His)
c.2889T>C
c.4702T>C (p.Tyr1568His)
c.4858T>C (p.Tyr1620His)
 ClinVar dbSNP
12g.51806311T>GCA384880322SCN8Ac.4825T>G (p.Tyr1609Asp)
c.2889T>G
c.4702T>G (p.Tyr1568Asp)
c.4858T>G (p.Tyr1620Asp)
12g.51806312A>CCA384880323SCN8Ac.4826A>C (p.Tyr1609Ser)
c.2890A>C
c.4703A>C (p.Tyr1568Ser)
c.4859A>C (p.Tyr1620Ser)
 ClinVar
12g.51806312A>GCA384880324SCN8Ac.4826A>G (p.Tyr1609Cys)
c.2890A>G
c.4703A>G (p.Tyr1568Cys)
c.4859A>G (p.Tyr1620Cys)
12g.51806312A>TCA384880325SCN8Ac.4826A>T (p.Tyr1609Phe)
c.2890A>T
c.4703A>T (p.Tyr1568Phe)
c.4859A>T (p.Tyr1620Phe)
12g.51806313C>ACA384880326SCN8Ac.4827C>A (p.Tyr1609Ter)
c.2891C>A
c.4704C>A (p.Tyr1568Ter)
c.4860C>A (p.Tyr1620Ter)
 gnomAD v4
12g.51806313C>GCA384880327SCN8Ac.4827C>G (p.Tyr1609Ter)
c.2891C>G
c.4704C>G (p.Tyr1568Ter)
c.4860C>G (p.Tyr1620Ter)
12g.51806313C>TCA479788005SCN8Ac.4827C>T (p.Tyr1609=)
c.2891C>T
c.4704C>T (p.Tyr1568=)
c.4860C>T (p.Tyr1620=)
12g.51806314T>ACA384880328SCN8Ac.4828T>A (p.Phe1610Ile)
c.2892T>A
c.4705T>A (p.Phe1569Ile)
c.4861T>A (p.Phe1621Ile)
12g.51806314T>CCA384880329SCN8Ac.4828T>C (p.Phe1610Leu)
c.2892T>C
c.4705T>C (p.Phe1569Leu)
c.4861T>C (p.Phe1621Leu)
12g.51806314T>GCA384880330SCN8Ac.4828T>G (p.Phe1610Val)
c.2892T>G
c.4705T>G (p.Phe1569Val)
c.4861T>G (p.Phe1621Val)
12g.51806315T>ACA384880331SCN8Ac.4829T>A (p.Phe1610Tyr)
c.2893T>A
c.4706T>A (p.Phe1569Tyr)
c.4862T>A (p.Phe1621Tyr)
12g.51806315T>CCA384880332SCN8Ac.4829T>C (p.Phe1610Ser)
c.2893T>C
c.4706T>C (p.Phe1569Ser)
c.4862T>C (p.Phe1621Ser)
12g.51806315T>GCA384880333SCN8Ac.4829T>G (p.Phe1610Cys)
c.2893T>G
c.4706T>G (p.Phe1569Cys)
c.4862T>G (p.Phe1621Cys)
12g.51806316T>ACA384880334SCN8Ac.4830T>A (p.Phe1610Leu)
c.2894T>A
c.4707T>A (p.Phe1569Leu)
c.4863T>A (p.Phe1621Leu)
12g.51806316T>CCA6571873SCN8Ac.4830T>C (p.Phe1610=)
c.2894T>C
c.4707T>C (p.Phe1569=)
c.4863T>C (p.Phe1621=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806316T>GCA384880335SCN8Ac.4830T>G (p.Phe1610Leu)
c.2894T>G
c.4707T>G (p.Phe1569Leu)
c.4863T>G (p.Phe1621Leu)

Number of alleles fetched