Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806422A=CA2036193043SCN8Ac.4936A= (p.Met1646=)
c.3000A=
c.4813A= (p.Met1605=)
c.4969A= (p.Met1657=)
12g.51806422A>CCA384880586SCN8Ac.4936A>C (p.Met1646Leu)
c.3000A>C
c.4813A>C (p.Met1605Leu)
c.4969A>C (p.Met1657Leu)
12g.51806422A>GCA384880588SCN8Ac.4936A>G (p.Met1646Val)
c.3000A>G
c.4813A>G (p.Met1605Val)
c.4969A>G (p.Met1657Val)
12g.51806422A>TCA318290SCN8Ac.4936A>T (p.Met1646Leu)
c.3000A>T
c.4813A>T (p.Met1605Leu)
c.4969A>T (p.Met1657Leu)
ClinVar dbSNP
12g.51806423T>ACA384880592SCN8Ac.4937T>A (p.Met1646Lys)
c.3001T>A
c.4814T>A (p.Met1605Lys)
c.4970T>A (p.Met1657Lys)
12g.51806423T>CCA384880594SCN8Ac.4937T>C (p.Met1646Thr)
c.3001T>C
c.4814T>C (p.Met1605Thr)
c.4970T>C (p.Met1657Thr)
ClinVar dbSNP
12g.51806423T>GCA384880596SCN8Ac.4937T>G (p.Met1646Arg)
c.3001T>G
c.4814T>G (p.Met1605Arg)
c.4970T>G (p.Met1657Arg)
12g.51806424G>ACA384880603SCN8Ac.4938G>A (p.Met1646Ile)
c.3002G>A
c.4815G>A (p.Met1605Ile)
c.4971G>A (p.Met1657Ile)
12g.51806424G>CCA384880601SCN8Ac.4938G>C (p.Met1646Ile)
c.3002G>C
c.4815G>C (p.Met1605Ile)
c.4971G>C (p.Met1657Ile)
12g.51806424G>TCA384880599SCN8Ac.4938G>T (p.Met1646Ile)
c.3002G>T
c.4815G>T (p.Met1605Ile)
c.4971G>T (p.Met1657Ile)
12g.51806425T>ACA384880609SCN8Ac.4939T>A (p.Ser1647Thr)
c.3003T>A
c.4816T>A (p.Ser1606Thr)
c.4972T>A (p.Ser1658Thr)
12g.51806425T>CCA384880606SCN8Ac.4939T>C (p.Ser1647Pro)
c.3003T>C
c.4816T>C (p.Ser1606Pro)
c.4972T>C (p.Ser1658Pro)
12g.51806425T>GCA384880608SCN8Ac.4939T>G (p.Ser1647Ala)
c.3003T>G
c.4816T>G (p.Ser1606Ala)
c.4972T>G (p.Ser1658Ala)
12g.51806426C>ACA384880610SCN8Ac.4940C>A (p.Ser1647Tyr)
c.3004C>A
c.4817C>A (p.Ser1606Tyr)
c.4973C>A (p.Ser1658Tyr)
12g.51806426C>GCA384880611SCN8Ac.4940C>G (p.Ser1647Cys)
c.3004C>G
c.4817C>G (p.Ser1606Cys)
c.4973C>G (p.Ser1658Cys)
12g.51806426C>TCA384880612SCN8Ac.4940C>T (p.Ser1647Phe)
c.3004C>T
c.4817C>T (p.Ser1606Phe)
c.4973C>T (p.Ser1658Phe)
COSMIC COSMIC
12g.51806427C>ACA479788172SCN8Ac.4941C>A (p.Ser1647=)
c.3005C>A
c.4818C>A (p.Ser1606=)
c.4974C>A (p.Ser1658=)
12g.51806427C=CA2036193051SCN8Ac.4941C= (p.Ser1647=)
c.3005C=
c.4818C= (p.Ser1606=)
c.4974C= (p.Ser1658=)
12g.51806427C>GCA479788173SCN8Ac.4941C>G (p.Ser1647=)
c.3005C>G
c.4818C>G (p.Ser1606=)
c.4974C>G (p.Ser1658=)
12g.51806427C>TCA479788174SCN8Ac.4941C>T (p.Ser1647=)
c.3005C>T
c.4818C>T (p.Ser1606=)
c.4974C>T (p.Ser1658=)
dbSNP gnomAD v2 gnomAD v4
12g.51806428T>ACA384880613SCN8Ac.4942T>A (p.Leu1648Met)
c.3006T>A
c.4819T>A (p.Leu1607Met)
c.4975T>A (p.Leu1659Met)
12g.51806428T>CCA479788175SCN8Ac.4942T>C (p.Leu1648=)
c.3006T>C
c.4819T>C (p.Leu1607=)
c.4975T>C (p.Leu1659=)
12g.51806428T>GCA384880615SCN8Ac.4942T>G (p.Leu1648Val)
c.3006T>G
c.4819T>G (p.Leu1607Val)
c.4975T>G (p.Leu1659Val)
12g.51806429T>ACA384880618SCN8Ac.4943T>A (p.Leu1648Ter)
c.3007T>A
c.4820T>A (p.Leu1607Ter)
c.4976T>A (p.Leu1659Ter)
dbSNP
12g.51806429T>CCA384880620SCN8Ac.4943T>C (p.Leu1648Ser)
c.3007T>C
c.4820T>C (p.Leu1607Ser)
c.4976T>C (p.Leu1659Ser)
12g.51806429T>GCA384880622SCN8Ac.4943T>G (p.Leu1648Trp)
c.3007T>G
c.4820T>G (p.Leu1607Trp)
c.4976T>G (p.Leu1659Trp)
12g.51806429T=CA2036193058SCN8Ac.4943T= (p.Leu1648=)
c.3007T=
c.4820T= (p.Leu1607=)
c.4976T= (p.Leu1659=)
12g.51806430G>ACA6571881SCN8Ac.4944G>A (p.Leu1648=)
c.3008G>A
c.4821G>A (p.Leu1607=)
c.4977G>A (p.Leu1659=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806430G>CCA384880625SCN8Ac.4944G>C (p.Leu1648Phe)
c.3008G>C
c.4821G>C (p.Leu1607Phe)
c.4977G>C (p.Leu1659Phe)
ClinVar dbSNP
12g.51806430G=CA2036193070SCN8Ac.4944G= (p.Leu1648=)
c.3008G=
c.4821G= (p.Leu1607=)
c.4977G= (p.Leu1659=)
12g.51806430G>TCA384880628SCN8Ac.4944G>T (p.Leu1648Phe)
c.3008G>T
c.4821G>T (p.Leu1607Phe)
c.4977G>T (p.Leu1659Phe)
12g.51806431C>ACA384880634SCN8Ac.4945C>A (p.Pro1649Thr)
c.3009C>A
c.4822C>A (p.Pro1608Thr)
c.4978C>A (p.Pro1660Thr)
12g.51806431C>GCA384880633SCN8Ac.4945C>G (p.Pro1649Ala)
c.3009C>G
c.4822C>G (p.Pro1608Ala)
c.4978C>G (p.Pro1660Ala)
12g.51806431C>TCA384880630SCN8Ac.4945C>T (p.Pro1649Ser)
c.3009C>T
c.4822C>T (p.Pro1608Ser)
c.4978C>T (p.Pro1660Ser)
12g.51806432C>ACA384880637SCN8Ac.4946C>A (p.Pro1649His)
c.3010C>A
c.4823C>A (p.Pro1608His)
c.4979C>A (p.Pro1660His)
ClinVar dbSNP
12g.51806432C=CA2036193084SCN8Ac.4946C= (p.Pro1649=)
c.3010C=
c.4823C= (p.Pro1608=)
c.4979C= (p.Pro1660=)
12g.51806432C>GCA384880639SCN8Ac.4946C>G (p.Pro1649Arg)
c.3010C>G
c.4823C>G (p.Pro1608Arg)
c.4979C>G (p.Pro1660Arg)
12g.51806432C>TCA384880641SCN8Ac.4946C>T (p.Pro1649Leu)
c.3010C>T
c.4823C>T (p.Pro1608Leu)
c.4979C>T (p.Pro1660Leu)
12g.51806433T>ACA479788176SCN8Ac.4947T>A (p.Pro1649=)
c.3011T>A
c.4824T>A (p.Pro1608=)
c.4980T>A (p.Pro1660=)
12g.51806433T>CCA479788177SCN8Ac.4947T>C (p.Pro1649=)
c.3011T>C
c.4824T>C (p.Pro1608=)
c.4980T>C (p.Pro1660=)
12g.51806433T>GCA479788178SCN8Ac.4947T>G (p.Pro1649=)
c.3011T>G
c.4824T>G (p.Pro1608=)
c.4980T>G (p.Pro1660=)
12g.51806434G>ACA10586299SCN8Ac.4948G>A (p.Ala1650Thr)
c.3012G>A
c.4825G>A (p.Ala1609Thr)
c.4981G>A (p.Ala1661Thr)
ClinVar dbSNP
12g.51806434G>CCA384880645SCN8Ac.4948G>C (p.Ala1650Pro)
c.3012G>C
c.4825G>C (p.Ala1609Pro)
c.4981G>C (p.Ala1661Pro)
12g.51806434G=CA2036193098SCN8Ac.4948G= (p.Ala1650=)
c.3012G=
c.4825G= (p.Ala1609=)
c.4981G= (p.Ala1661=)
12g.51806434G>TCA384880647SCN8Ac.4948G>T (p.Ala1650Ser)
c.3012G>T
c.4825G>T (p.Ala1609Ser)
c.4981G>T (p.Ala1661Ser)
ClinVar dbSNP
12g.51806435C>ACA384880650SCN8Ac.4949C>A (p.Ala1650Asp)
c.3013C>A
c.4826C>A (p.Ala1609Asp)
c.4982C>A (p.Ala1661Asp)
ClinVar dbSNP
12g.51806435C=CA2036193110SCN8Ac.4949C= (p.Ala1650=)
c.3013C=
c.4826C= (p.Ala1609=)
c.4982C= (p.Ala1661=)
12g.51806435C>GCA384880651SCN8Ac.4949C>G (p.Ala1650Gly)
c.3013C>G
c.4826C>G (p.Ala1609Gly)
c.4982C>G (p.Ala1661Gly)
12g.51806435C>TCA318292SCN8Ac.4949C>T (p.Ala1650Val)
c.3013C>T
c.4826C>T (p.Ala1609Val)
c.4982C>T (p.Ala1661Val)
ClinVar dbSNP
12g.51806436C>ACA479788179SCN8Ac.4950C>A (p.Ala1650=)
c.3014C>A
c.4827C>A (p.Ala1609=)
c.4983C>A (p.Ala1661=)

Number of alleles fetched