Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806277C>TCA2618841322SCN8Ac.4796-5C>T (n.4796-5C>T)
c.2860-5C>T
c.4673-5C>T (n.4673-5C>T)
c.4829-5C>T (n.4829-5C>T)
 gnomAD v4
12g.51806280A>CCA384880247SCN8Ac.4796-2A>C (n.4796-2A>C)
c.2860-2A>C
c.4673-2A>C (n.4673-2A>C)
c.4829-2A>C (n.4829-2A>C)
12g.51806280A>GCA384880248SCN8Ac.4796-2A>G (n.4796-2A>G)
c.2860-2A>G
c.4673-2A>G (n.4673-2A>G)
c.4829-2A>G (n.4829-2A>G)
12g.51806280A>TCA384880249SCN8Ac.4796-2A>T (n.4796-2A>T)
c.2860-2A>T
c.4673-2A>T (n.4673-2A>T)
c.4829-2A>T (n.4829-2A>T)
12g.51806281G>ACA384880250SCN8Ac.4796-1G>A (n.4796-1G>A)
c.2860-1G>A
c.4673-1G>A (n.4673-1G>A)
c.4829-1G>A (n.4829-1G>A)
12g.51806281G>CCA384880251SCN8Ac.4796-1G>C (n.4796-1G>C)
c.2860-1G>C
c.4673-1G>C (n.4673-1G>C)
c.4829-1G>C (n.4829-1G>C)
12g.51806281G>TCA384880252SCN8Ac.4796-1G>T (n.4796-1G>T)
c.2860-1G>T
c.4673-1G>T (n.4673-1G>T)
c.4829-1G>T (n.4829-1G>T)
 gnomAD v4
12g.51806282G>ACA384880253SCN8Ac.4796G>A (p.Gly1599Glu)
c.2860G>A
c.4673G>A (p.Gly1558Glu)
c.4829G>A (p.Gly1610Glu)
12g.51806282G>CCA384880255SCN8Ac.4796G>C (p.Gly1599Ala)
c.2860G>C
c.4673G>C (p.Gly1558Ala)
c.4829G>C (p.Gly1610Ala)
12g.51806282G>TCA384880254SCN8Ac.4796G>T (p.Gly1599Val)
c.2860G>T
c.4673G>T (p.Gly1558Val)
c.4829G>T (p.Gly1610Val)
 gnomAD v4
12g.51806283A>CCA479787987SCN8Ac.4797A>C (p.Gly1599=)
c.2861A>C
c.4674A>C (p.Gly1558=)
c.4830A>C (p.Gly1610=)
12g.51806283A>GCA479787988SCN8Ac.4797A>G (p.Gly1599=)
c.2861A>G
c.4674A>G (p.Gly1558=)
c.4830A>G (p.Gly1610=)
12g.51806283A>TCA479787989SCN8Ac.4797A>T (p.Gly1599=)
c.2861A>T
c.4674A>T (p.Gly1558=)
c.4830A>T (p.Gly1610=)
12g.51806284A=CA2036192673SCN8Ac.4798A= (p.Met1600=)
c.2862A=
c.4675A= (p.Met1559=)
c.4831A= (p.Met1611=)
12g.51806284A>CCA384880256SCN8Ac.4798A>C (p.Met1600Leu)
c.2862A>C
c.4675A>C (p.Met1559Leu)
c.4831A>C (p.Met1611Leu)
12g.51806284A>GCA318286SCN8Ac.4798A>G (p.Met1600Val)
c.2862A>G
c.4675A>G (p.Met1559Val)
c.4831A>G (p.Met1611Val)
 ClinVar dbSNP
12g.51806284A>TCA384880257SCN8Ac.4798A>T (p.Met1600Leu)
c.2862A>T
c.4675A>T (p.Met1559Leu)
c.4831A>T (p.Met1611Leu)
12g.51806285T>ACA384880258SCN8Ac.4799T>A (p.Met1600Lys)
c.2863T>A
c.4676T>A (p.Met1559Lys)
c.4832T>A (p.Met1611Lys)
12g.51806285T>CCA384880259SCN8Ac.4799T>C (p.Met1600Thr)
c.2863T>C
c.4676T>C (p.Met1559Thr)
c.4832T>C (p.Met1611Thr)
12g.51806285T>GCA384880260SCN8Ac.4799T>G (p.Met1600Arg)
c.2863T>G
c.4676T>G (p.Met1559Arg)
c.4832T>G (p.Met1611Arg)
12g.51806286G>ACA384880261SCN8Ac.4800G>A (p.Met1600Ile)
c.2864G>A
c.4677G>A (p.Met1559Ile)
c.4833G>A (p.Met1611Ile)
 ClinVar dbSNP
12g.51806286G>CCA384880262SCN8Ac.4800G>C (p.Met1600Ile)
c.2864G>C
c.4677G>C (p.Met1559Ile)
c.4833G>C (p.Met1611Ile)
12g.51806286G=CA2036192686SCN8Ac.4800G= (p.Met1600=)
c.2864G=
c.4677G= (p.Met1559=)
c.4833G= (p.Met1611=)
12g.51806286G>TCA384880263SCN8Ac.4800G>T (p.Met1600Ile)
c.2864G>T
c.4677G>T (p.Met1559Ile)
c.4833G>T (p.Met1611Ile)
12g.51806287T>ACA384880264SCN8Ac.4801T>A (p.Phe1601Ile)
c.2865T>A
c.4678T>A (p.Phe1560Ile)
c.4834T>A (p.Phe1612Ile)
12g.51806287T>CCA384880265SCN8Ac.4801T>C (p.Phe1601Leu)
c.2865T>C
c.4678T>C (p.Phe1560Leu)
c.4834T>C (p.Phe1612Leu)
12g.51806287T>GCA384880266SCN8Ac.4801T>G (p.Phe1601Val)
c.2865T>G
c.4678T>G (p.Phe1560Val)
c.4834T>G (p.Phe1612Val)
12g.51806288T>ACA384880267SCN8Ac.4802T>A (p.Phe1601Tyr)
c.2866T>A
c.4679T>A (p.Phe1560Tyr)
c.4835T>A (p.Phe1612Tyr)
12g.51806288T>CCA384880268SCN8Ac.4802T>C (p.Phe1601Ser)
c.2866T>C
c.4679T>C (p.Phe1560Ser)
c.4835T>C (p.Phe1612Ser)
12g.51806288T>GCA384880269SCN8Ac.4802T>G (p.Phe1601Cys)
c.2866T>G
c.4679T>G (p.Phe1560Cys)
c.4835T>G (p.Phe1612Cys)
12g.51806289C>ACA384880271SCN8Ac.4803C>A (p.Phe1601Leu)
c.2867C>A
c.4680C>A (p.Phe1560Leu)
c.4836C>A (p.Phe1612Leu)
12g.51806289C>GCA384880270SCN8Ac.4803C>G (p.Phe1601Leu)
c.2867C>G
c.4680C>G (p.Phe1560Leu)
c.4836C>G (p.Phe1612Leu)
12g.51806289C>TCA479787990SCN8Ac.4803C>T (p.Phe1601=)
c.2867C>T
c.4680C>T (p.Phe1560=)
c.4836C>T (p.Phe1612=)
12g.51806290C>ACA384880272SCN8Ac.4804C>A (p.Leu1602Met)
c.2868C>A
c.4681C>A (p.Leu1561Met)
c.4837C>A (p.Leu1613Met)
12g.51806290C>GCA384880273SCN8Ac.4804C>G (p.Leu1602Val)
c.2868C>G
c.4681C>G (p.Leu1561Val)
c.4837C>G (p.Leu1613Val)
12g.51806290C>TCA479787991SCN8Ac.4804C>T (p.Leu1602=)
c.2868C>T
c.4681C>T (p.Leu1561=)
c.4837C>T (p.Leu1613=)
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)
 ClinVar
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=)

Number of alleles fetched