Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806560_51806575delinsGGCAACAGCATGATCTCA2036193271SCN8Ac.5074_5089delinsGGCAACAGCATGATCT (p.Gly1692=)
c.3138_3153delinsGGCAACAGCATGATCT
c.4951_4966delinsGGCAACAGCATGATCT (p.Gly1651=)
c.5107_5122delinsGGCAACAGCATGATCT (p.Gly1703=)
12g.51806563_51806577delCA16619565SCN8Ac.5077_5091del (p.Asn1693_Cys1697del)
c.3141_3155del
c.4954_4968del (p.Asn1652_Cys1656del)
c.5110_5124del (p.Asn1704_Cys1708del)
 ClinVar dbSNP
12g.51806564A>CCA384882972SCN8Ac.5078A>C (p.Asn1693Thr)
c.3142A>C
c.4955A>C (p.Asn1652Thr)
c.5111A>C (p.Asn1704Thr)
12g.51806564A>GCA384882974SCN8Ac.5078A>G (p.Asn1693Ser)
c.3142A>G
c.4955A>G (p.Asn1652Ser)
c.5111A>G (p.Asn1704Ser)
12g.51806564A>TCA384882975SCN8Ac.5078A>T (p.Asn1693Ile)
c.3142A>T
c.4955A>T (p.Asn1652Ile)
c.5111A>T (p.Asn1704Ile)
12g.51806565C>ACA384882978SCN8Ac.5079C>A (p.Asn1693Lys)
c.3143C>A
c.4956C>A (p.Asn1652Lys)
c.5112C>A (p.Asn1704Lys)
12g.51806565C>GCA384882980SCN8Ac.5079C>G (p.Asn1693Lys)
c.3143C>G
c.4956C>G (p.Asn1652Lys)
c.5112C>G (p.Asn1704Lys)
 gnomAD v4
12g.51806565C>TCA480061921SCN8Ac.5079C>T (p.Asn1693=)
c.3143C>T
c.4956C>T (p.Asn1652=)
c.5112C>T (p.Asn1704=)
12g.51806566A>CCA384882984SCN8Ac.5080A>C (p.Ser1694Arg)
c.3144A>C
c.4957A>C (p.Ser1653Arg)
c.5113A>C (p.Ser1705Arg)
12g.51806566A>GCA384882985SCN8Ac.5080A>G (p.Ser1694Gly)
c.3144A>G
c.4957A>G (p.Ser1653Gly)
c.5113A>G (p.Ser1705Gly)
 gnomAD v4
12g.51806566A>TCA384882986SCN8Ac.5080A>T (p.Ser1694Cys)
c.3144A>T
c.4957A>T (p.Ser1653Cys)
c.5113A>T (p.Ser1705Cys)
12g.51806567G>ACA384883003SCN8Ac.5081G>A (p.Ser1694Asn)
c.3145G>A
c.4958G>A (p.Ser1653Asn)
c.5114G>A (p.Ser1705Asn)
12g.51806567G>CCA384882991SCN8Ac.5081G>C (p.Ser1694Thr)
c.3145G>C
c.4958G>C (p.Ser1653Thr)
c.5114G>C (p.Ser1705Thr)
12g.51806567G>TCA384882988SCN8Ac.5081G>T (p.Ser1694Ile)
c.3145G>T
c.4958G>T (p.Ser1653Ile)
c.5114G>T (p.Ser1705Ile)
12g.51806568C>ACA384883008SCN8Ac.5082C>A (p.Ser1694Arg)
c.3146C>A
c.4959C>A (p.Ser1653Arg)
c.5115C>A (p.Ser1705Arg)
12g.51806568C=CA2036193294SCN8Ac.5082C= (p.Ser1694=)
c.3146C=
c.4959C= (p.Ser1653=)
c.5115C= (p.Ser1705=)
12g.51806568C>GCA384883024SCN8Ac.5082C>G (p.Ser1694Arg)
c.3146C>G
c.4959C>G (p.Ser1653Arg)
c.5115C>G (p.Ser1705Arg)
12g.51806568C>TCA480061925SCN8Ac.5082C>T (p.Ser1694=)
c.3146C>T
c.4959C>T (p.Ser1653=)
c.5115C>T (p.Ser1705=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806569A=CA2036193299SCN8Ac.5083A= (p.Met1695=)
c.3147A=
c.4960A= (p.Met1654=)
c.5116A= (p.Met1706=)
12g.51806569A>CCA384883036SCN8Ac.5083A>C (p.Met1695Leu)
c.3147A>C
c.4960A>C (p.Met1654Leu)
c.5116A>C (p.Met1706Leu)
12g.51806569A>GCA236327464SCN8Ac.5083A>G (p.Met1695Val)
c.3147A>G
c.4960A>G (p.Met1654Val)
c.5116A>G (p.Met1706Val)
 dbSNP gnomAD v3 gnomAD v4
12g.51806569A>TCA384883043SCN8Ac.5083A>T (p.Met1695Leu)
c.3147A>T
c.4960A>T (p.Met1654Leu)
c.5116A>T (p.Met1706Leu)
12g.51806570T>ACA384883055SCN8Ac.5084T>A (p.Met1695Lys)
c.3148T>A
c.4961T>A (p.Met1654Lys)
c.5117T>A (p.Met1706Lys)
12g.51806570T>CCA384883054SCN8Ac.5084T>C (p.Met1695Thr)
c.3148T>C
c.4961T>C (p.Met1654Thr)
c.5117T>C (p.Met1706Thr)
 ClinVar dbSNP
12g.51806570T>GCA384883045SCN8Ac.5084T>G (p.Met1695Arg)
c.3148T>G
c.4961T>G (p.Met1654Arg)
c.5117T>G (p.Met1706Arg)
12g.51806571delCA2618841539SCN8Ac.5085del (p.Met1695IlefsTer21)
c.3149del
c.4962del (p.Met1654IlefsTer21)
c.5118del (p.Met1706IlefsTer21)
 gnomAD v4
12g.51806571G>ACA384883059SCN8Ac.5085G>A (p.Met1695Ile)
c.3149G>A
c.4962G>A (p.Met1654Ile)
c.5118G>A (p.Met1706Ile)
12g.51806571G>CCA384883061SCN8Ac.5085G>C (p.Met1695Ile)
c.3149G>C
c.4962G>C (p.Met1654Ile)
c.5118G>C (p.Met1706Ile)
12g.51806571G>TCA384883062SCN8Ac.5085G>T (p.Met1695Ile)
c.3149G>T
c.4962G>T (p.Met1654Ile)
c.5118G>T (p.Met1706Ile)
12g.51806572A>CCA384883069SCN8Ac.5086A>C (p.Ile1696Leu)
c.3150A>C
c.4963A>C (p.Ile1655Leu)
c.5119A>C (p.Ile1707Leu)
12g.51806572A>GCA384883077SCN8Ac.5086A>G (p.Ile1696Val)
c.3150A>G
c.4963A>G (p.Ile1655Val)
c.5119A>G (p.Ile1707Val)
12g.51806572A>TCA384883081SCN8Ac.5086A>T (p.Ile1696Phe)
c.3150A>T
c.4963A>T (p.Ile1655Phe)
c.5119A>T (p.Ile1707Phe)
12g.51806573T>ACA384883090SCN8Ac.5087T>A (p.Ile1696Asn)
c.3151T>A
c.4964T>A (p.Ile1655Asn)
c.5120T>A (p.Ile1707Asn)
12g.51806573T>CCA384883113SCN8Ac.5087T>C (p.Ile1696Thr)
c.3151T>C
c.4964T>C (p.Ile1655Thr)
c.5120T>C (p.Ile1707Thr)
 gnomAD v4
12g.51806573T>GCA384883109SCN8Ac.5087T>G (p.Ile1696Ser)
c.3151T>G
c.4964T>G (p.Ile1655Ser)
c.5120T>G (p.Ile1707Ser)
 ClinVar gnomAD v4
12g.51806574C>ACA480061936SCN8Ac.5088C>A (p.Ile1696=)
c.3152C>A
c.4965C>A (p.Ile1655=)
c.5121C>A (p.Ile1707=)
12g.51806574C>GCA384883120SCN8Ac.5088C>G (p.Ile1696Met)
c.3152C>G
c.4965C>G (p.Ile1655Met)
c.5121C>G (p.Ile1707Met)
12g.51806574C>TCA480061937SCN8Ac.5088C>T (p.Ile1696=)
c.3152C>T
c.4965C>T (p.Ile1655=)
c.5121C>T (p.Ile1707=)
12g.51806575T>ACA384883126SCN8Ac.5089T>A (p.Cys1697Ser)
c.3153T>A
c.4966T>A (p.Cys1656Ser)
c.5122T>A (p.Cys1708Ser)
12g.51806575T>CCA384883132SCN8Ac.5089T>C (p.Cys1697Arg)
c.3153T>C
c.4966T>C (p.Cys1656Arg)
c.5122T>C (p.Cys1708Arg)
12g.51806575T>GCA384883135SCN8Ac.5089T>G (p.Cys1697Gly)
c.3153T>G
c.4966T>G (p.Cys1656Gly)
c.5122T>G (p.Cys1708Gly)
12g.51806576G>ACA384883136SCN8Ac.5090G>A (p.Cys1697Tyr)
c.3154G>A
c.4967G>A (p.Cys1656Tyr)
c.5123G>A (p.Cys1708Tyr)
12g.51806576G>CCA384883143SCN8Ac.5090G>C (p.Cys1697Ser)
c.3154G>C
c.4967G>C (p.Cys1656Ser)
c.5123G>C (p.Cys1708Ser)
12g.51806576G>TCA384883146SCN8Ac.5090G>T (p.Cys1697Phe)
c.3154G>T
c.4967G>T (p.Cys1656Phe)
c.5123G>T (p.Cys1708Phe)
12g.51806577C>ACA384883152SCN8Ac.5091C>A (p.Cys1697Ter)
c.3155C>A
c.4968C>A (p.Cys1656Ter)
c.5124C>A (p.Cys1708Ter)
 dbSNP
12g.51806577C=CA2036193307SCN8Ac.5091C= (p.Cys1697=)
c.3155C=
c.4968C= (p.Cys1656=)
c.5124C= (p.Cys1708=)
12g.51806577C>GCA384883153SCN8Ac.5091C>G (p.Cys1697Trp)
c.3155C>G
c.4968C>G (p.Cys1656Trp)
c.5124C>G (p.Cys1708Trp)
12g.51806577C>TCA480061941SCN8Ac.5091C>T (p.Cys1697=)
c.3155C>T
c.4968C>T (p.Cys1656=)
c.5124C>T (p.Cys1708=)
12g.51806578C>ACA384883157SCN8Ac.5092C>A (p.Leu1698Met)
c.3156C>A
c.4969C>A (p.Leu1657Met)
c.5125C>A (p.Leu1709Met)
12g.51806578C>GCA384883162SCN8Ac.5092C>G (p.Leu1698Val)
c.3156C>G
c.4969C>G (p.Leu1657Val)
c.5125C>G (p.Leu1709Val)
12g.51806578C>TCA480061942SCN8Ac.5092C>T (p.Leu1698=)
c.3156C>T
c.4969C>T (p.Leu1657=)
c.5125C>T (p.Leu1709=)
12g.51806579T>ACA384883180SCN8Ac.5093T>A (p.Leu1698Gln)
c.3157T>A
c.4970T>A (p.Leu1657Gln)
c.5126T>A (p.Leu1709Gln)
12g.51806579T>CCA384883177SCN8Ac.5093T>C (p.Leu1698Pro)
c.3157T>C
c.4970T>C (p.Leu1657Pro)
c.5126T>C (p.Leu1709Pro)
12g.51806579T>GCA384883176SCN8Ac.5093T>G (p.Leu1698Arg)
c.3157T>G
c.4970T>G (p.Leu1657Arg)
c.5126T>G (p.Leu1709Arg)
12g.51806580G>ACA480061946SCN8Ac.5094G>A (p.Leu1698=)
c.3158G>A
c.4971G>A (p.Leu1657=)
c.5127G>A (p.Leu1709=)
12g.51806580G>CCA480061945SCN8Ac.5094G>C (p.Leu1698=)
c.3158G>C
c.4971G>C (p.Leu1657=)
c.5127G>C (p.Leu1709=)
12g.51806580G>TCA480061944SCN8Ac.5094G>T (p.Leu1698=)
c.3158G>T
c.4971G>T (p.Leu1657=)
c.5127G>T (p.Leu1709=)
 gnomAD v4
12g.51806581T>ACA384883186SCN8Ac.5095T>A (p.Phe1699Ile)
c.3159T>A
c.4972T>A (p.Phe1658Ile)
c.5128T>A (p.Phe1710Ile)
12g.51806581T>CCA384883192SCN8Ac.5095T>C (p.Phe1699Leu)
c.3159T>C
c.4972T>C (p.Phe1658Leu)
c.5128T>C (p.Phe1710Leu)
12g.51806581T>GCA384883188SCN8Ac.5095T>G (p.Phe1699Val)
c.3159T>G
c.4972T>G (p.Phe1658Val)
c.5128T>G (p.Phe1710Val)
12g.51806582T>ACA384883196SCN8Ac.5096T>A (p.Phe1699Tyr)
c.3160T>A
c.4973T>A (p.Phe1658Tyr)
c.5129T>A (p.Phe1710Tyr)
12g.51806582T>CCA384883198SCN8Ac.5096T>C (p.Phe1699Ser)
c.3160T>C
c.4973T>C (p.Phe1658Ser)
c.5129T>C (p.Phe1710Ser)
12g.51806582T>GCA384883201SCN8Ac.5096T>G (p.Phe1699Cys)
c.3160T>G
c.4973T>G (p.Phe1658Cys)
c.5129T>G (p.Phe1710Cys)
12g.51806583T>ACA384883251SCN8Ac.5097T>A (p.Phe1699Leu)
c.3161T>A
c.4974T>A (p.Phe1658Leu)
c.5130T>A (p.Phe1710Leu)
12g.51806583T>CCA480061951SCN8Ac.5097T>C (p.Phe1699=)
c.3161T>C
c.4974T>C (p.Phe1658=)
c.5130T>C (p.Phe1710=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806583T>GCA384883252SCN8Ac.5097T>G (p.Phe1699Leu)
c.3161T>G
c.4974T>G (p.Phe1658Leu)
c.5130T>G (p.Phe1710Leu)
12g.51806583T=CA2036193309SCN8Ac.5097T= (p.Phe1699=)
c.3161T=
c.4974T= (p.Phe1658=)
c.5130T= (p.Phe1710=)
12g.51806584C>ACA384883257SCN8Ac.5098C>A (p.Gln1700Lys)
c.3162C>A
c.4975C>A (p.Gln1659Lys)
c.5131C>A (p.Gln1711Lys)
12g.51806584C=CA2036193311SCN8Ac.5098C= (p.Gln1700=)
c.3162C=
c.4975C= (p.Gln1659=)
c.5131C= (p.Gln1711=)
12g.51806584C>GCA384883264SCN8Ac.5098C>G (p.Gln1700Glu)
c.3162C>G
c.4975C>G (p.Gln1659Glu)
c.5131C>G (p.Gln1711Glu)
12g.51806584C>TCA384883269SCN8Ac.5098C>T (p.Gln1700Ter)
c.3162C>T
c.4975C>T (p.Gln1659Ter)
c.5131C>T (p.Gln1711Ter)
 dbSNP
12g.51806585A>CCA384883273SCN8Ac.5099A>C (p.Gln1700Pro)
c.3163A>C
c.4976A>C (p.Gln1659Pro)
c.5132A>C (p.Gln1711Pro)
12g.51806585A>GCA384883277SCN8Ac.5099A>G (p.Gln1700Arg)
c.3163A>G
c.4976A>G (p.Gln1659Arg)
c.5132A>G (p.Gln1711Arg)
12g.51806585A>TCA384883280SCN8Ac.5099A>T (p.Gln1700Leu)
c.3163A>T
c.4976A>T (p.Gln1659Leu)
c.5132A>T (p.Gln1711Leu)
12g.51806586A>CCA384883286SCN8Ac.5100A>C (p.Gln1700His)
c.3164A>C
c.4977A>C (p.Gln1659His)
c.5133A>C (p.Gln1711His)
12g.51806586A>GCA480061958SCN8Ac.5100A>G (p.Gln1700=)
c.3164A>G
c.4977A>G (p.Gln1659=)
c.5133A>G (p.Gln1711=)
12g.51806586A>TCA384883291SCN8Ac.5100A>T (p.Gln1700His)
c.3164A>T
c.4977A>T (p.Gln1659His)
c.5133A>T (p.Gln1711His)
12g.51806587A>CCA384883295SCN8Ac.5101A>C (p.Ile1701Leu)
c.3165A>C
c.4978A>C (p.Ile1660Leu)
c.5134A>C (p.Ile1712Leu)
12g.51806587A>GCA384883308SCN8Ac.5101A>G (p.Ile1701Val)
c.3165A>G
c.4978A>G (p.Ile1660Val)
c.5134A>G (p.Ile1712Val)
12g.51806587A>TCA384883300SCN8Ac.5101A>T (p.Ile1701Phe)
c.3165A>T
c.4978A>T (p.Ile1660Phe)
c.5134A>T (p.Ile1712Phe)
12g.51806588T>ACA384883313SCN8Ac.5102T>A (p.Ile1701Asn)
c.3166T>A
c.4979T>A (p.Ile1660Asn)
c.5135T>A (p.Ile1712Asn)
12g.51806588T>CCA384883322SCN8Ac.5102T>C (p.Ile1701Thr)
c.3166T>C
c.4979T>C (p.Ile1660Thr)
c.5135T>C (p.Ile1712Thr)
12g.51806588T>GCA384883326SCN8Ac.5102T>G (p.Ile1701Ser)
c.3166T>G
c.4979T>G (p.Ile1660Ser)
c.5135T>G (p.Ile1712Ser)
12g.51806589C>ACA480061963SCN8Ac.5103C>A (p.Ile1701=)
c.3167C>A
c.4980C>A (p.Ile1660=)
c.5136C>A (p.Ile1712=)
12g.51806589C>GCA384883335SCN8Ac.5103C>G (p.Ile1701Met)
c.3167C>G
c.4980C>G (p.Ile1660Met)
c.5136C>G (p.Ile1712Met)
12g.51806589C>TCA480061965SCN8Ac.5103C>T (p.Ile1701=)
c.3167C>T
c.4980C>T (p.Ile1660=)
c.5136C>T (p.Ile1712=)
12g.51806590A>CCA384883345SCN8Ac.5104A>C (p.Thr1702Pro)
c.3168A>C
c.4981A>C (p.Thr1661Pro)
c.5137A>C (p.Thr1713Pro)
12g.51806590A>GCA384883349SCN8Ac.5104A>G (p.Thr1702Ala)
c.3168A>G
c.4981A>G (p.Thr1661Ala)
c.5137A>G (p.Thr1713Ala)
12g.51806590A>TCA384883354SCN8Ac.5104A>T (p.Thr1702Ser)
c.3168A>T
c.4981A>T (p.Thr1661Ser)
c.5137A>T (p.Thr1713Ser)
12g.51806591C>ACA384883363SCN8Ac.5105C>A (p.Thr1702Lys)
c.3169C>A
c.4982C>A (p.Thr1661Lys)
c.5138C>A (p.Thr1713Lys)
12g.51806591C=CA2036193321SCN8Ac.5105C= (p.Thr1702=)
c.3169C=
c.4982C= (p.Thr1661=)
c.5138C= (p.Thr1713=)
12g.51806591C>GCA384883365SCN8Ac.5105C>G (p.Thr1702Arg)
c.3169C>G
c.4982C>G (p.Thr1661Arg)
c.5138C>G (p.Thr1713Arg)
12g.51806591C>TCA384883366SCN8Ac.5105C>T (p.Thr1702Ile)
c.3169C>T
c.4982C>T (p.Thr1661Ile)
c.5138C>T (p.Thr1713Ile)
12g.51806592A>CCA480061968SCN8Ac.5106A>C (p.Thr1702=)
c.3170A>C
c.4983A>C (p.Thr1661=)
c.5139A>C (p.Thr1713=)
12g.51806592A>GCA480061969SCN8Ac.5106A>G (p.Thr1702=)
c.3170A>G
c.4983A>G (p.Thr1661=)
c.5139A>G (p.Thr1713=)
12g.51806592A>TCA480061970SCN8Ac.5106A>T (p.Thr1702=)
c.3170A>T
c.4983A>T (p.Thr1661=)
c.5139A>T (p.Thr1713=)
12g.51806593dupCA2036193324SCN8Ac.5107dup (p.Thr1703AsnfsTer18)
c.3171dup
c.4984dup (p.Thr1662AsnfsTer18)
c.5140dup (p.Thr1714AsnfsTer18)
 dbSNP
12g.51806593A>CCA384883379SCN8Ac.5107A>C (p.Thr1703Pro)
c.3171A>C
c.4984A>C (p.Thr1662Pro)
c.5140A>C (p.Thr1714Pro)
12g.51806593A>GCA384883383SCN8Ac.5107A>G (p.Thr1703Ala)
c.3171A>G
c.4984A>G (p.Thr1662Ala)
c.5140A>G (p.Thr1714Ala)
 ClinVar
12g.51806593A>TCA384883374SCN8Ac.5107A>T (p.Thr1703Ser)
c.3171A>T
c.4984A>T (p.Thr1662Ser)
c.5140A>T (p.Thr1714Ser)
12g.51806594C>ACA384883388SCN8Ac.5108C>A (p.Thr1703Asn)
c.3172C>A
c.4985C>A (p.Thr1662Asn)
c.5141C>A (p.Thr1714Asn)
 ClinVar dbSNP
12g.51806594C>GCA384883389SCN8Ac.5108C>G (p.Thr1703Ser)
c.3172C>G
c.4985C>G (p.Thr1662Ser)
c.5141C>G (p.Thr1714Ser)
12g.51806594C>TCA384883393SCN8Ac.5108C>T (p.Thr1703Ile)
c.3172C>T
c.4985C>T (p.Thr1662Ile)
c.5141C>T (p.Thr1714Ile)
12g.51806595C>ACA480061978SCN8Ac.5109C>A (p.Thr1703=)
c.3173C>A
c.4986C>A (p.Thr1662=)
c.5142C>A (p.Thr1714=)
12g.51806595C>GCA480061980SCN8Ac.5109C>G (p.Thr1703=)
c.3173C>G
c.4986C>G (p.Thr1662=)
c.5142C>G (p.Thr1714=)
12g.51806595C>TCA480061981SCN8Ac.5109C>T (p.Thr1703=)
c.3173C>T
c.4986C>T (p.Thr1662=)
c.5142C>T (p.Thr1714=)
12g.51806596T>ACA384883405SCN8Ac.5110T>A (p.Ser1704Thr)
c.3174T>A
c.4987T>A (p.Ser1663Thr)
c.5143T>A (p.Ser1715Thr)
 ClinVar dbSNP COSMIC COSMIC
12g.51806596T>CCA384883406SCN8Ac.5110T>C (p.Ser1704Pro)
c.3174T>C
c.4987T>C (p.Ser1663Pro)
c.5143T>C (p.Ser1715Pro)
12g.51806596T>GCA384883409SCN8Ac.5110T>G (p.Ser1704Ala)
c.3174T>G
c.4987T>G (p.Ser1663Ala)
c.5143T>G (p.Ser1715Ala)
12g.51806597C>ACA384883428SCN8Ac.5111C>A (p.Ser1704Ter)
c.3175C>A
c.4988C>A (p.Ser1663Ter)
c.5144C>A (p.Ser1715Ter)
12g.51806597C>GCA384883430SCN8Ac.5111C>G (p.Ser1704Ter)
c.3175C>G
c.4988C>G (p.Ser1663Ter)
c.5144C>G (p.Ser1715Ter)
12g.51806597C>TCA384883432SCN8Ac.5111C>T (p.Ser1704Leu)
c.3175C>T
c.4988C>T (p.Ser1663Leu)
c.5144C>T (p.Ser1715Leu)
12g.51806598A=CA2036193332SCN8Ac.5112A= (p.Ser1704=)
c.3176A=
c.4989A= (p.Ser1663=)
c.5145A= (p.Ser1715=)
12g.51806598A>CCA480061985SCN8Ac.5112A>C (p.Ser1704=)
c.3176A>C
c.4989A>C (p.Ser1663=)
c.5145A>C (p.Ser1715=)
12g.51806598A>GCA6571889SCN8Ac.5112A>G (p.Ser1704=)
c.3176A>G
c.4989A>G (p.Ser1663=)
c.5145A>G (p.Ser1715=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806598A>TCA480061987SCN8Ac.5112A>T (p.Ser1704=)
c.3176A>T
c.4989A>T (p.Ser1663=)
c.5145A>T (p.Ser1715=)
 gnomAD v4
12g.51806599G>ACA384883442SCN8Ac.5113G>A (p.Ala1705Thr)
c.3177G>A
c.4990G>A (p.Ala1664Thr)
c.5146G>A (p.Ala1716Thr)
12g.51806599G>CCA384883443SCN8Ac.5113G>C (p.Ala1705Pro)
c.3177G>C
c.4990G>C (p.Ala1664Pro)
c.5146G>C (p.Ala1716Pro)
12g.51806599G>TCA384883444SCN8Ac.5113G>T (p.Ala1705Ser)
c.3177G>T
c.4990G>T (p.Ala1664Ser)
c.5146G>T (p.Ala1716Ser)
12g.51806600C>ACA384883458SCN8Ac.5114C>A (p.Ala1705Asp)
c.3178C>A
c.4991C>A (p.Ala1664Asp)
c.5147C>A (p.Ala1716Asp)
12g.51806600C>GCA384883454SCN8Ac.5114C>G (p.Ala1705Gly)
c.3178C>G
c.4991C>G (p.Ala1664Gly)
c.5147C>G (p.Ala1716Gly)
12g.51806600C>TCA384883451SCN8Ac.5114C>T (p.Ala1705Val)
c.3178C>T
c.4991C>T (p.Ala1664Val)
c.5147C>T (p.Ala1716Val)
12g.51806601T>ACA480061994SCN8Ac.5115T>A (p.Ala1705=)
c.3179T>A
c.4992T>A (p.Ala1664=)
c.5148T>A (p.Ala1716=)
12g.51806601T>CCA480061996SCN8Ac.5115T>C (p.Ala1705=)
c.3179T>C
c.4992T>C (p.Ala1664=)
c.5148T>C (p.Ala1716=)
12g.51806601T>GCA480061995SCN8Ac.5115T>G (p.Ala1705=)
c.3179T>G
c.4992T>G (p.Ala1664=)
c.5148T>G (p.Ala1716=)
12g.51806602G>ACA384883469SCN8Ac.5116G>A (p.Gly1706Ser)
c.3180G>A
c.4993G>A (p.Gly1665Ser)
c.5149G>A (p.Gly1717Ser)
12g.51806602G>CCA384883472SCN8Ac.5116G>C (p.Gly1706Arg)
c.3180G>C
c.4993G>C (p.Gly1665Arg)
c.5149G>C (p.Gly1717Arg)
12g.51806602G>TCA384883478SCN8Ac.5116G>T (p.Gly1706Cys)
c.3180G>T
c.4993G>T (p.Gly1665Cys)
c.5149G>T (p.Gly1717Cys)
12g.51806603G>ACA384883491SCN8Ac.5117G>A (p.Gly1706Asp)
c.3181G>A
c.4994G>A (p.Gly1665Asp)
c.5150G>A (p.Gly1717Asp)
12g.51806603G>CCA384883508SCN8Ac.5117G>C (p.Gly1706Ala)
c.3181G>C
c.4994G>C (p.Gly1665Ala)
c.5150G>C (p.Gly1717Ala)
12g.51806603G>TCA384883513SCN8Ac.5117G>T (p.Gly1706Val)
c.3181G>T
c.4994G>T (p.Gly1665Val)
c.5150G>T (p.Gly1717Val)
12g.51806604T>ACA480062001SCN8Ac.5118T>A (p.Gly1706=)
c.3182T>A
c.4995T>A (p.Gly1665=)
c.5151T>A (p.Gly1717=)
12g.51806604T>CCA6571890SCN8Ac.5118T>C (p.Gly1706=)
c.3182T>C
c.4995T>C (p.Gly1665=)
c.5151T>C (p.Gly1717=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806604T>GCA480062002SCN8Ac.5118T>G (p.Gly1706=)
c.3182T>G
c.4995T>G (p.Gly1665=)
c.5151T>G (p.Gly1717=)
12g.51806604T=CA2036193335SCN8Ac.5118T= (p.Gly1706=)
c.3182T=
c.4995T= (p.Gly1665=)
c.5151T= (p.Gly1717=)
12g.51806605T>ACA384883521SCN8Ac.5119T>A (p.Trp1707Arg)
c.3183T>A
c.4996T>A (p.Trp1666Arg)
c.5152T>A (p.Trp1718Arg)
12g.51806605T>CCA384883528SCN8Ac.5119T>C (p.Trp1707Arg)
c.3183T>C
c.4996T>C (p.Trp1666Arg)
c.5152T>C (p.Trp1718Arg)
12g.51806605T>GCA384883534SCN8Ac.5119T>G (p.Trp1707Gly)
c.3183T>G
c.4996T>G (p.Trp1666Gly)
c.5152T>G (p.Trp1718Gly)
12g.51806606G>ACA384883544SCN8Ac.5120G>A (p.Trp1707Ter)
c.3184G>A
c.4997G>A (p.Trp1666Ter)
c.5153G>A (p.Trp1718Ter)
12g.51806606G>CCA384883548SCN8Ac.5120G>C (p.Trp1707Ser)
c.3184G>C
c.4997G>C (p.Trp1666Ser)
c.5153G>C (p.Trp1718Ser)
12g.51806606G>TCA384883553SCN8Ac.5120G>T (p.Trp1707Leu)
c.3184G>T
c.4997G>T (p.Trp1666Leu)
c.5153G>T (p.Trp1718Leu)
12g.51806607G>ACA384883563SCN8Ac.5121G>A (p.Trp1707Ter)
c.3185G>A
c.4998G>A (p.Trp1666Ter)
c.5154G>A (p.Trp1718Ter)
 dbSNP
12g.51806607G>CCA384883567SCN8Ac.5121G>C (p.Trp1707Cys)
c.3185G>C
c.4998G>C (p.Trp1666Cys)
c.5154G>C (p.Trp1718Cys)
12g.51806607G=CA2036193338SCN8Ac.5121G= (p.Trp1707=)
c.3185G=
c.4998G= (p.Trp1666=)
c.5154G= (p.Trp1718=)
12g.51806607G>TCA384883565SCN8Ac.5121G>T (p.Trp1707Cys)
c.3185G>T
c.4998G>T (p.Trp1666Cys)
c.5154G>T (p.Trp1718Cys)
12g.51806608G>ACA384883572SCN8Ac.5122G>A (p.Asp1708Asn)
c.3186G>A
c.4999G>A (p.Asp1667Asn)
c.5155G>A (p.Asp1719Asn)
12g.51806608G>CCA384883583SCN8Ac.5122G>C (p.Asp1708His)
c.3186G>C
c.4999G>C (p.Asp1667His)
c.5155G>C (p.Asp1719His)
12g.51806608G>TCA384883577SCN8Ac.5122G>T (p.Asp1708Tyr)
c.3186G>T
c.4999G>T (p.Asp1667Tyr)
c.5155G>T (p.Asp1719Tyr)
12g.51806609A>CCA384883586SCN8Ac.5123A>C (p.Asp1708Ala)
c.3187A>C
c.5000A>C (p.Asp1667Ala)
c.5156A>C (p.Asp1719Ala)
12g.51806609A>GCA384883593SCN8Ac.5123A>G (p.Asp1708Gly)
c.3187A>G
c.5000A>G (p.Asp1667Gly)
c.5156A>G (p.Asp1719Gly)
12g.51806609A>TCA384883587SCN8Ac.5123A>T (p.Asp1708Val)
c.3187A>T
c.5000A>T (p.Asp1667Val)
c.5156A>T (p.Asp1719Val)
12g.51806610T>ACA384883594SCN8Ac.5124T>A (p.Asp1708Glu)
c.3188T>A
c.5001T>A (p.Asp1667Glu)
c.5157T>A (p.Asp1719Glu)
12g.51806610T>CCA480062010SCN8Ac.5124T>C (p.Asp1708=)
c.3188T>C
c.5001T>C (p.Asp1667=)
c.5157T>C (p.Asp1719=)
 dbSNP
12g.51806610T>GCA384883595SCN8Ac.5124T>G (p.Asp1708Glu)
c.3188T>G
c.5001T>G (p.Asp1667Glu)
c.5157T>G (p.Asp1719Glu)
12g.51806610T=CA2036193341SCN8Ac.5124T= (p.Asp1708=)
c.3188T=
c.5001T= (p.Asp1667=)
c.5157T= (p.Asp1719=)
12g.51806611G>ACA384883597SCN8Ac.5125G>A (p.Gly1709Ser)
c.3189G>A
c.5002G>A (p.Gly1668Ser)
c.5158G>A (p.Gly1720Ser)
12g.51806611G>CCA384883607SCN8Ac.5125G>C (p.Gly1709Arg)
c.3189G>C
c.5002G>C (p.Gly1668Arg)
c.5158G>C (p.Gly1720Arg)
12g.51806611G>TCA384883602SCN8Ac.5125G>T (p.Gly1709Cys)
c.3189G>T
c.5002G>T (p.Gly1668Cys)
c.5158G>T (p.Gly1720Cys)
12g.51806612G>ACA384883617SCN8Ac.5126G>A (p.Gly1709Asp)
c.3190G>A
c.5003G>A (p.Gly1668Asp)
c.5159G>A (p.Gly1720Asp)
12g.51806612G>CCA384883638SCN8Ac.5126G>C (p.Gly1709Ala)
c.3190G>C
c.5003G>C (p.Gly1668Ala)
c.5159G>C (p.Gly1720Ala)
12g.51806612G>TCA384883644SCN8Ac.5126G>T (p.Gly1709Val)
c.3190G>T
c.5003G>T (p.Gly1668Val)
c.5159G>T (p.Gly1720Val)
12g.51806613C>ACA480062015SCN8Ac.5127C>A (p.Gly1709=)
c.3191C>A
c.5004C>A (p.Gly1668=)
c.5160C>A (p.Gly1720=)
12g.51806613C>GCA480062018SCN8Ac.5127C>G (p.Gly1709=)
c.3191C>G
c.5004C>G (p.Gly1668=)
c.5160C>G (p.Gly1720=)
12g.51806613C>TCA480062016SCN8Ac.5127C>T (p.Gly1709=)
c.3191C>T
c.5004C>T (p.Gly1668=)
c.5160C>T (p.Gly1720=)
12g.51806614C>ACA384883648SCN8Ac.5128C>A (p.Leu1710Met)
c.3192C>A
c.5005C>A (p.Leu1669Met)
c.5161C>A (p.Leu1721Met)
12g.51806614C>GCA384883653SCN8Ac.5128C>G (p.Leu1710Val)
c.3192C>G
c.5005C>G (p.Leu1669Val)
c.5161C>G (p.Leu1721Val)
12g.51806614C>TCA480062022SCN8Ac.5128C>T (p.Leu1710=)
c.3192C>T
c.5005C>T (p.Leu1669=)
c.5161C>T (p.Leu1721=)
12g.51806621_51806623delCA2580615202SCN8Ac.5135_5137del (p.Leu1712del)
c.3199_3201del
c.5012_5014del (p.Leu1671del)
c.5168_5170del (p.Leu1723del)
 ClinVar dbSNP
12g.51806615T>ACA384883659SCN8Ac.5129T>A (p.Leu1710Gln)
c.3193T>A
c.5006T>A (p.Leu1669Gln)
c.5162T>A (p.Leu1721Gln)
 COSMIC COSMIC
12g.51806615T>CCA384883661SCN8Ac.5129T>C (p.Leu1710Pro)
c.3193T>C
c.5006T>C (p.Leu1669Pro)
c.5162T>C (p.Leu1721Pro)
12g.51806615T>GCA384883662SCN8Ac.5129T>G (p.Leu1710Arg)
c.3193T>G
c.5006T>G (p.Leu1669Arg)
c.5162T>G (p.Leu1721Arg)
12g.51806616G>ACA480062023SCN8Ac.5130G>A (p.Leu1710=)
c.3194G>A
c.5007G>A (p.Leu1669=)
c.5163G>A (p.Leu1721=)
 gnomAD v4
12g.51806616G>CCA480062025SCN8Ac.5130G>C (p.Leu1710=)
c.3194G>C
c.5007G>C (p.Leu1669=)
c.5163G>C (p.Leu1721=)
12g.51806616G>TCA480062026SCN8Ac.5130G>T (p.Leu1710=)
c.3194G>T
c.5007G>T (p.Leu1669=)
c.5163G>T (p.Leu1721=)
12g.51806617C>ACA384883668SCN8Ac.5131C>A (p.Leu1711Met)
c.3195C>A
c.5008C>A (p.Leu1670Met)
c.5164C>A (p.Leu1722Met)
12g.51806617C=CA2036193346SCN8Ac.5131C= (p.Leu1711=)
c.3195C=
c.5008C= (p.Leu1670=)
c.5164C= (p.Leu1722=)
12g.51806617C>GCA384883669SCN8Ac.5131C>G (p.Leu1711Val)
c.3195C>G
c.5008C>G (p.Leu1670Val)
c.5164C>G (p.Leu1722Val)
12g.51806617C>TCA480062028SCN8Ac.5131C>T (p.Leu1711=)
c.3195C>T
c.5008C>T (p.Leu1670=)
c.5164C>T (p.Leu1722=)
 dbSNP gnomAD v4
12g.51806618T>ACA384883674SCN8Ac.5132T>A (p.Leu1711Gln)
c.3196T>A
c.5009T>A (p.Leu1670Gln)
c.5165T>A (p.Leu1722Gln)
12g.51806618T>CCA384883672SCN8Ac.5132T>C (p.Leu1711Pro)
c.3196T>C
c.5009T>C (p.Leu1670Pro)
c.5165T>C (p.Leu1722Pro)
12g.51806618T>GCA384883670SCN8Ac.5132T>G (p.Leu1711Arg)
c.3196T>G
c.5009T>G (p.Leu1670Arg)
c.5165T>G (p.Leu1722Arg)
12g.51806619G>ACA480062031SCN8Ac.5133G>A (p.Leu1711=)
c.3197G>A
c.5010G>A (p.Leu1670=)
c.5166G>A (p.Leu1722=)
12g.51806619G>CCA480062033SCN8Ac.5133G>C (p.Leu1711=)
c.3197G>C
c.5010G>C (p.Leu1670=)
c.5166G>C (p.Leu1722=)
12g.51806619G>TCA480062034SCN8Ac.5133G>T (p.Leu1711=)
c.3197G>T
c.5010G>T (p.Leu1670=)
c.5166G>T (p.Leu1722=)
 COSMIC COSMIC
12g.51806620C>ACA384883678SCN8Ac.5134C>A (p.Leu1712Met)
c.3198C>A
c.5011C>A (p.Leu1671Met)
c.5167C>A (p.Leu1723Met)
 dbSNP
12g.51806620C=CA2036193352SCN8Ac.5134C= (p.Leu1712=)
c.3198C=
c.5011C= (p.Leu1671=)
c.5167C= (p.Leu1723=)
12g.51806620C>GCA384883683SCN8Ac.5134C>G (p.Leu1712Val)
c.3198C>G
c.5011C>G (p.Leu1671Val)
c.5167C>G (p.Leu1723Val)
12g.51806620C>TCA480062037SCN8Ac.5134C>T (p.Leu1712=)
c.3198C>T
c.5011C>T (p.Leu1671=)
c.5167C>T (p.Leu1723=)
 gnomAD v4
12g.51806621T>ACA384883688SCN8Ac.5135T>A (p.Leu1712Gln)
c.3199T>A
c.5012T>A (p.Leu1671Gln)
c.5168T>A (p.Leu1723Gln)
12g.51806621T>CCA384883690SCN8Ac.5135T>C (p.Leu1712Pro)
c.3199T>C
c.5012T>C (p.Leu1671Pro)
c.5168T>C (p.Leu1723Pro)
12g.51806621T>GCA384883694SCN8Ac.5135T>G (p.Leu1712Arg)
c.3199T>G
c.5012T>G (p.Leu1671Arg)
c.5168T>G (p.Leu1723Arg)
12g.51806622G>ACA480062045SCN8Ac.5136G>A (p.Leu1712=)
c.3200G>A
c.5013G>A (p.Leu1671=)
c.5169G>A (p.Leu1723=)
12g.51806622G>CCA480062042SCN8Ac.5136G>C (p.Leu1712=)
c.3200G>C
c.5013G>C (p.Leu1671=)
c.5169G>C (p.Leu1723=)
12g.51806622G>TCA480062041SCN8Ac.5136G>T (p.Leu1712=)
c.3200G>T
c.5013G>T (p.Leu1671=)
c.5169G>T (p.Leu1723=)
12g.51806623C>ACA384883700SCN8Ac.5137C>A (p.Pro1713Thr)
c.3201C>A
c.5014C>A (p.Pro1672Thr)
c.5170C>A (p.Pro1724Thr)
12g.51806623C>GCA384883702SCN8Ac.5137C>G (p.Pro1713Ala)
c.3201C>G
c.5014C>G (p.Pro1672Ala)
c.5170C>G (p.Pro1724Ala)
12g.51806623C>TCA384883705SCN8Ac.5137C>T (p.Pro1713Ser)
c.3201C>T
c.5014C>T (p.Pro1672Ser)
c.5170C>T (p.Pro1724Ser)
12g.51806624C>ACA384883710SCN8Ac.5138C>A (p.Pro1713His)
c.3202C>A
c.5015C>A (p.Pro1672His)
c.5171C>A (p.Pro1724His)
 ClinVar
12g.51806624C>GCA384883712SCN8Ac.5138C>G (p.Pro1713Arg)
c.3202C>G
c.5015C>G (p.Pro1672Arg)
c.5171C>G (p.Pro1724Arg)
12g.51806624C>TCA384883725SCN8Ac.5138C>T (p.Pro1713Leu)
c.3202C>T
c.5015C>T (p.Pro1672Leu)
c.5171C>T (p.Pro1724Leu)
12g.51806625C>ACA480062047SCN8Ac.5139C>A (p.Pro1713=)
c.3203C>A
c.5016C>A (p.Pro1672=)
c.5172C>A (p.Pro1724=)
 gnomAD v4
12g.51806625C>GCA480062048SCN8Ac.5139C>G (p.Pro1713=)
c.3203C>G
c.5016C>G (p.Pro1672=)
c.5172C>G (p.Pro1724=)
12g.51806625C>TCA480062049SCN8Ac.5139C>T (p.Pro1713=)
c.3203C>T
c.5016C>T (p.Pro1672=)
c.5172C>T (p.Pro1724=)
12g.51806626A>CCA384883756SCN8Ac.5140A>C (p.Ile1714Leu)
c.3204A>C
c.5017A>C (p.Ile1673Leu)
c.5173A>C (p.Ile1725Leu)
12g.51806626A>GCA384883761SCN8Ac.5140A>G (p.Ile1714Val)
c.3204A>G
c.5017A>G (p.Ile1673Val)
c.5173A>G (p.Ile1725Val)
12g.51806626A>TCA384883732SCN8Ac.5140A>T (p.Ile1714Phe)
c.3204A>T
c.5017A>T (p.Ile1673Phe)
c.5173A>T (p.Ile1725Phe)
12g.51806627T>ACA384883766SCN8Ac.5141T>A (p.Ile1714Asn)
c.3205T>A
c.5018T>A (p.Ile1673Asn)
c.5174T>A (p.Ile1725Asn)
12g.51806627T>CCA384883769SCN8Ac.5141T>C (p.Ile1714Thr)
c.3205T>C
c.5018T>C (p.Ile1673Thr)
c.5174T>C (p.Ile1725Thr)
12g.51806627T>GCA384883773SCN8Ac.5141T>G (p.Ile1714Ser)
c.3205T>G
c.5018T>G (p.Ile1673Ser)
c.5174T>G (p.Ile1725Ser)
12g.51806628C>ACA480062056SCN8Ac.5142C>A (p.Ile1714=)
c.3206C>A
c.5019C>A (p.Ile1673=)
c.5175C>A (p.Ile1725=)
12g.51806628C>GCA384883777SCN8Ac.5142C>G (p.Ile1714Met)
c.3206C>G
c.5019C>G (p.Ile1673Met)
c.5175C>G (p.Ile1725Met)
12g.51806628C>TCA480062057SCN8Ac.5142C>T (p.Ile1714=)
c.3206C>T
c.5019C>T (p.Ile1673=)
c.5175C>T (p.Ile1725=)
12g.51806629C>ACA384883785SCN8Ac.5143C>A (p.Leu1715Ile)
c.3207C>A
c.5020C>A (p.Leu1674Ile)
c.5176C>A (p.Leu1726Ile)
12g.51806629C>GCA384883795SCN8Ac.5143C>G (p.Leu1715Val)
c.3207C>G
c.5020C>G (p.Leu1674Val)
c.5176C>G (p.Leu1726Val)
12g.51806629C>TCA480062059SCN8Ac.5143C>T (p.Leu1715=)
c.3207C>T
c.5020C>T (p.Leu1674=)
c.5176C>T (p.Leu1726=)
12g.51806630T>ACA384883807SCN8Ac.5144T>A (p.Leu1715Gln)
c.3208T>A
c.5021T>A (p.Leu1674Gln)
c.5177T>A (p.Leu1726Gln)
12g.51806630T>CCA384883822SCN8Ac.5144T>C (p.Leu1715Pro)
c.3208T>C
c.5021T>C (p.Leu1674Pro)
c.5177T>C (p.Leu1726Pro)
12g.51806630T>GCA384883827SCN8Ac.5144T>G (p.Leu1715Arg)
c.3208T>G
c.5021T>G (p.Leu1674Arg)
c.5177T>G (p.Leu1726Arg)
12g.51806631A=CA2036193362SCN8Ac.5145A= (p.Leu1715=)
c.3209A=
c.5022A= (p.Leu1674=)
c.5178A= (p.Leu1726=)
12g.51806631A>CCA480062061SCN8Ac.5145A>C (p.Leu1715=)
c.3209A>C
c.5022A>C (p.Leu1674=)
c.5178A>C (p.Leu1726=)
12g.51806631A>GCA6571891SCN8Ac.5145A>G (p.Leu1715=)
c.3209A>G
c.5022A>G (p.Leu1674=)
c.5178A>G (p.Leu1726=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806631A>TCA480062066SCN8Ac.5145A>T (p.Leu1715=)
c.3209A>T
c.5022A>T (p.Leu1674=)
c.5178A>T (p.Leu1726=)
12g.51806632A>CCA384883835SCN8Ac.5146A>C (p.Asn1716His)
c.3210A>C
c.5023A>C (p.Asn1675His)
c.5179A>C (p.Asn1727His)
12g.51806632A>GCA384883854SCN8Ac.5146A>G (p.Asn1716Asp)
c.3210A>G
c.5023A>G (p.Asn1675Asp)
c.5179A>G (p.Asn1727Asp)
12g.51806632A>TCA384883858SCN8Ac.5146A>T (p.Asn1716Tyr)
c.3210A>T
c.5023A>T (p.Asn1675Tyr)
c.5179A>T (p.Asn1727Tyr)
12g.51806633A>CCA384883879SCN8Ac.5147A>C (p.Asn1716Thr)
c.3211A>C
c.5024A>C (p.Asn1675Thr)
c.5180A>C (p.Asn1727Thr)
12g.51806633A>GCA384883878SCN8Ac.5147A>G (p.Asn1716Ser)
c.3211A>G
c.5024A>G (p.Asn1675Ser)
c.5180A>G (p.Asn1727Ser)
12g.51806633A>TCA384883872SCN8Ac.5147A>T (p.Asn1716Ile)
c.3211A>T
c.5024A>T (p.Asn1675Ile)
c.5180A>T (p.Asn1727Ile)
12g.51806634C>ACA384883884SCN8Ac.5148C>A (p.Asn1716Lys)
c.3212C>A
c.5025C>A (p.Asn1675Lys)
c.5181C>A (p.Asn1727Lys)
12g.51806634C=CA2036193368SCN8Ac.5148C= (p.Asn1716=)
c.3212C=
c.5025C= (p.Asn1675=)
c.5181C= (p.Asn1727=)
12g.51806634C>GCA384883887SCN8Ac.5148C>G (p.Asn1716Lys)
c.3212C>G
c.5025C>G (p.Asn1675Lys)
c.5181C>G (p.Asn1727Lys)
 dbSNP
12g.51806634C>TCA480062075SCN8Ac.5148C>T (p.Asn1716=)
c.3212C>T
c.5025C>T (p.Asn1675=)
c.5181C>T (p.Asn1727=)
 COSMIC COSMIC
12g.51806635C>ACA384883892SCN8Ac.5149C>A (p.Arg1717Ser)
c.3213C>A
c.5026C>A (p.Arg1676Ser)
c.5182C>A (p.Arg1728Ser)
12g.51806635C=CA2036193373SCN8Ac.5149C= (p.Arg1717=)
c.3213C=
c.5026C= (p.Arg1676=)
c.5182C= (p.Arg1728=)
12g.51806635C>GCA384883895SCN8Ac.5149C>G (p.Arg1717Gly)
c.3213C>G
c.5026C>G (p.Arg1676Gly)
c.5182C>G (p.Arg1728Gly)
 ClinVar dbSNP gnomAD v4
12g.51806635C>TCA384883901SCN8Ac.5149C>T (p.Arg1717Cys)
c.3213C>T
c.5026C>T (p.Arg1676Cys)
c.5182C>T (p.Arg1728Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806636G>ACA6571892SCN8Ac.5150G>A (p.Arg1717His)
c.3214G>A
c.5027G>A (p.Arg1676His)
c.5183G>A (p.Arg1728His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806636G>CCA384883924SCN8Ac.5150G>C (p.Arg1717Pro)
c.3214G>C
c.5027G>C (p.Arg1676Pro)
c.5183G>C (p.Arg1728Pro)
12g.51806636G=CA2036193378SCN8Ac.5150G= (p.Arg1717=)
c.3214G=
c.5027G= (p.Arg1676=)
c.5183G= (p.Arg1728=)
12g.51806636G>TCA384883933SCN8Ac.5150G>T (p.Arg1717Leu)
c.3214G>T
c.5027G>T (p.Arg1676Leu)
c.5183G>T (p.Arg1728Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.51806637C>ACA480062082SCN8Ac.5151C>A (p.Arg1717=)
c.3215C>A
c.5028C>A (p.Arg1676=)
c.5184C>A (p.Arg1728=)
12g.51806637C=CA2036193390SCN8Ac.5151C= (p.Arg1717=)
c.3215C=
c.5028C= (p.Arg1676=)
c.5184C= (p.Arg1728=)
12g.51806637C>GCA480062081SCN8Ac.5151C>G (p.Arg1717=)
c.3215C>G
c.5028C>G (p.Arg1676=)
c.5184C>G (p.Arg1728=)
12g.51806637C>TCA6571893SCN8Ac.5151C>T (p.Arg1717=)
c.3215C>T
c.5028C>T (p.Arg1676=)
c.5184C>T (p.Arg1728=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806642dupCA605238622SCN8Ac.5156dup (p.Asp1720Ter)
c.3220dup
c.5033dup (p.Asp1679Ter)
c.5189dup (p.Asp1731Ter)
 ClinVar dbSNP gnomAD v2
12g.51806641_51806642dupCA2795967144SCN8Ac.5155_5156dup (p.Asp1720LeufsTer5)
c.3219_3220dup
c.5032_5033dup (p.Asp1679LeufsTer5)
c.5188_5189dup (p.Asp1731LeufsTer5)
12g.51806638C>ACA384883939SCN8Ac.5152C>A (p.Pro1718Thr)
c.3216C>A
c.5029C>A (p.Pro1677Thr)
c.5185C>A (p.Pro1729Thr)
 gnomAD v4
12g.51806638C=CA2036193398SCN8Ac.5152C= (p.Pro1718=)
c.3216C=
c.5029C= (p.Pro1677=)
c.5185C= (p.Pro1729=)
12g.51806638C>GCA384883941SCN8Ac.5152C>G (p.Pro1718Ala)
c.3216C>G
c.5029C>G (p.Pro1677Ala)
c.5185C>G (p.Pro1729Ala)
12g.51806638C>TCA242781SCN8Ac.5152C>T (p.Pro1718Ser)
c.3216C>T
c.5029C>T (p.Pro1677Ser)
c.5185C>T (p.Pro1729Ser)
 ClinVar dbSNP
12g.51806639C>ACA384883956SCN8Ac.5153C>A (p.Pro1718His)
c.3217C>A
c.5030C>A (p.Pro1677His)
c.5186C>A (p.Pro1729His)
12g.51806639C>GCA384883954SCN8Ac.5153C>G (p.Pro1718Arg)
c.3217C>G
c.5030C>G (p.Pro1677Arg)
c.5186C>G (p.Pro1729Arg)
12g.51806639C>TCA384883951SCN8Ac.5153C>T (p.Pro1718Leu)
c.3217C>T
c.5030C>T (p.Pro1677Leu)
c.5186C>T (p.Pro1729Leu)
12g.51806640C>ACA480062085SCN8Ac.5154C>A (p.Pro1718=)
c.3218C>A
c.5031C>A (p.Pro1677=)
c.5187C>A (p.Pro1729=)
12g.51806640C>GCA480062086SCN8Ac.5154C>G (p.Pro1718=)
c.3218C>G
c.5031C>G (p.Pro1677=)
c.5187C>G (p.Pro1729=)
12g.51806640C>TCA480062088SCN8Ac.5154C>T (p.Pro1718=)
c.3218C>T
c.5031C>T (p.Pro1677=)
c.5187C>T (p.Pro1729=)
12g.51806641C>ACA384883961SCN8Ac.5155C>A (p.Pro1719Thr)
c.3219C>A
c.5032C>A (p.Pro1678Thr)
c.5188C>A (p.Pro1730Thr)
12g.51806641C=CA2036193406SCN8Ac.5155C= (p.Pro1719=)
c.3219C=
c.5032C= (p.Pro1678=)
c.5188C= (p.Pro1730=)
12g.51806641C>GCA384883967SCN8Ac.5155C>G (p.Pro1719Ala)
c.3219C>G
c.5032C>G (p.Pro1678Ala)
c.5188C>G (p.Pro1730Ala)
 ClinVar dbSNP
12g.51806641C>TCA384883968SCN8Ac.5155C>T (p.Pro1719Ser)
c.3219C>T
c.5032C>T (p.Pro1678Ser)
c.5188C>T (p.Pro1730Ser)
12g.51806641_51806643delinsCCTCA2036193404SCN8Ac.5155_5157delinsCCT (p.Pro1719=)
c.3219_3221delinsCCT
c.5032_5034delinsCCT (p.Pro1678=)
c.5188_5190delinsCCT (p.Pro1730=)
12g.51806642C>ACA384883975SCN8Ac.5156C>A (p.Pro1719His)
c.3220C>A
c.5033C>A (p.Pro1678His)
c.5189C>A (p.Pro1730His)
12g.51806642C=CA2036193418SCN8Ac.5156C= (p.Pro1719=)
c.3220C=
c.5033C= (p.Pro1678=)
c.5189C= (p.Pro1730=)
12g.51806642C>GCA384883977SCN8Ac.5156C>G (p.Pro1719Arg)
c.3220C>G
c.5033C>G (p.Pro1678Arg)
c.5189C>G (p.Pro1730Arg)
 ClinVar dbSNP
12g.51806642C>TCA384883980SCN8Ac.5156C>T (p.Pro1719Leu)
c.3220C>T
c.5033C>T (p.Pro1678Leu)
c.5189C>T (p.Pro1730Leu)
12g.51806642_51806643delCA119993SCN8Ac.5156_5157del (p.Pro1719ArgfsTer6)
c.3220_3221del
c.5033_5034del (p.Pro1678ArgfsTer6)
c.5189_5190del (p.Pro1730ArgfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806643delCA2499221740SCN8Ac.5157del (p.Asp1720ThrfsTer4)
c.3221del
c.5034del (p.Asp1679ThrfsTer4)
c.5190del (p.Asp1731ThrfsTer4)
 ClinVar dbSNP
12g.51806643T>ACA480062097SCN8Ac.5157T>A (p.Pro1719=)
c.3221T>A
c.5034T>A (p.Pro1678=)
c.5190T>A (p.Pro1730=)
12g.51806643T>CCA480062098SCN8Ac.5157T>C (p.Pro1719=)
c.3221T>C
c.5034T>C (p.Pro1678=)
c.5190T>C (p.Pro1730=)
12g.51806643T>GCA480062099SCN8Ac.5157T>G (p.Pro1719=)
c.3221T>G
c.5034T>G (p.Pro1678=)
c.5190T>G (p.Pro1730=)
12g.51806644G>ACA384884013SCN8Ac.5158G>A (p.Asp1720Asn)
c.3222G>A
c.5035G>A (p.Asp1679Asn)
c.5191G>A (p.Asp1731Asn)
12g.51806644G>CCA384883999SCN8Ac.5158G>C (p.Asp1720His)
c.3222G>C
c.5035G>C (p.Asp1679His)
c.5191G>C (p.Asp1731His)
12g.51806644G>TCA384884004SCN8Ac.5158G>T (p.Asp1720Tyr)
c.3222G>T
c.5035G>T (p.Asp1679Tyr)
c.5191G>T (p.Asp1731Tyr)
12g.51806645A>CCA384884017SCN8Ac.5159A>C (p.Asp1720Ala)
c.3223A>C
c.5036A>C (p.Asp1679Ala)
c.5192A>C (p.Asp1731Ala)
12g.51806645A>GCA384884020SCN8Ac.5159A>G (p.Asp1720Gly)
c.3223A>G
c.5036A>G (p.Asp1679Gly)
c.5192A>G (p.Asp1731Gly)
12g.51806645A>TCA384884021SCN8Ac.5159A>T (p.Asp1720Val)
c.3223A>T
c.5036A>T (p.Asp1679Val)
c.5192A>T (p.Asp1731Val)
12g.51806646C>ACA6571894SCN8Ac.5160C>A (p.Asp1720Glu)
c.3224C>A
c.5037C>A (p.Asp1679Glu)
c.5193C>A (p.Asp1731Glu)
 dbSNP ExAC
12g.51806646C=CA2036193427SCN8Ac.5160C= (p.Asp1720=)
c.3224C=
c.5037C= (p.Asp1679=)
c.5193C= (p.Asp1731=)
12g.51806646C>GCA384884033SCN8Ac.5160C>G (p.Asp1720Glu)
c.3224C>G
c.5037C>G (p.Asp1679Glu)
c.5193C>G (p.Asp1731Glu)
12g.51806646C>TCA480062104SCN8Ac.5160C>T (p.Asp1720=)
c.3224C>T
c.5037C>T (p.Asp1679=)
c.5193C>T (p.Asp1731=)
 dbSNP
12g.51806647T>ACA384884034SCN8Ac.5161T>A (p.Cys1721Ser)
c.3225T>A
c.5038T>A (p.Cys1680Ser)
c.5194T>A (p.Cys1732Ser)
12g.51806647T>CCA384884039SCN8Ac.5161T>C (p.Cys1721Arg)
c.3225T>C
c.5038T>C (p.Cys1680Arg)
c.5194T>C (p.Cys1732Arg)
12g.51806647T>GCA384884035SCN8Ac.5161T>G (p.Cys1721Gly)
c.3225T>G
c.5038T>G (p.Cys1680Gly)
c.5194T>G (p.Cys1732Gly)
12g.51806648G>ACA384884043SCN8Ac.5162G>A (p.Cys1721Tyr)
c.3226G>A
c.5039G>A (p.Cys1680Tyr)
c.5195G>A (p.Cys1732Tyr)
 ClinVar dbSNP
12g.51806648G>CCA384884050SCN8Ac.5162G>C (p.Cys1721Ser)
c.3226G>C
c.5039G>C (p.Cys1680Ser)
c.5195G>C (p.Cys1732Ser)
12g.51806648G>TCA384884055SCN8Ac.5162G>T (p.Cys1721Phe)
c.3226G>T
c.5039G>T (p.Cys1680Phe)
c.5195G>T (p.Cys1732Phe)
 COSMIC COSMIC
12g.51806649C>ACA384884060SCN8Ac.5163C>A (p.Cys1721Ter)
c.3227C>A
c.5040C>A (p.Cys1680Ter)
c.5196C>A (p.Cys1732Ter)
 dbSNP
12g.51806649C=CA2036193443SCN8Ac.5163C= (p.Cys1721=)
c.3227C=
c.5040C= (p.Cys1680=)
c.5196C= (p.Cys1732=)
12g.51806649C>GCA384884063SCN8Ac.5163C>G (p.Cys1721Trp)
c.3227C>G
c.5040C>G (p.Cys1680Trp)
c.5196C>G (p.Cys1732Trp)
12g.51806649C>TCA480062108SCN8Ac.5163C>T (p.Cys1721=)
c.3227C>T
c.5040C>T (p.Cys1680=)
c.5196C>T (p.Cys1732=)
 ClinVar dbSNP
12g.51806650A>CCA384884080SCN8Ac.5164A>C (p.Ser1722Arg)
c.3228A>C
c.5041A>C (p.Ser1681Arg)
c.5197A>C (p.Ser1733Arg)
12g.51806650A>GCA384884084SCN8Ac.5164A>G (p.Ser1722Gly)
c.3228A>G
c.5041A>G (p.Ser1681Gly)
c.5197A>G (p.Ser1733Gly)
 gnomAD v4
12g.51806650A>TCA384884088SCN8Ac.5164A>T (p.Ser1722Cys)
c.3228A>T
c.5041A>T (p.Ser1681Cys)
c.5197A>T (p.Ser1733Cys)
12g.51806651G>ACA384884093SCN8Ac.5165G>A (p.Ser1722Asn)
c.3229G>A
c.5042G>A (p.Ser1681Asn)
c.5198G>A (p.Ser1733Asn)
12g.51806651G>CCA384884094SCN8Ac.5165G>C (p.Ser1722Thr)
c.3229G>C
c.5042G>C (p.Ser1681Thr)
c.5198G>C (p.Ser1733Thr)
12g.51806651G>TCA384884095SCN8Ac.5165G>T (p.Ser1722Ile)
c.3229G>T
c.5042G>T (p.Ser1681Ile)
c.5198G>T (p.Ser1733Ile)
 ClinVar
12g.51806652C>ACA384884100SCN8Ac.5166C>A (p.Ser1722Arg)
c.3230C>A
c.5043C>A (p.Ser1681Arg)
c.5199C>A (p.Ser1733Arg)
12g.51806652C=CA2036193448SCN8Ac.5166C= (p.Ser1722=)
c.3230C=
c.5043C= (p.Ser1681=)
c.5199C= (p.Ser1733=)
12g.51806652C>GCA384884106SCN8Ac.5166C>G (p.Ser1722Arg)
c.3230C>G
c.5043C>G (p.Ser1681Arg)
c.5199C>G (p.Ser1733Arg)
 gnomAD v4
12g.51806652C>TCA6571895SCN8Ac.5166C>T (p.Ser1722=)
c.3230C>T
c.5043C>T (p.Ser1681=)
c.5199C>T (p.Ser1733=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806653C>ACA384884111SCN8Ac.5167C>A (p.Leu1723Ile)
c.3231C>A
c.5044C>A (p.Leu1682Ile)
c.5200C>A (p.Leu1734Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806653C=CA2036193459SCN8Ac.5167C= (p.Leu1723=)
c.3231C=
c.5044C= (p.Leu1682=)
c.5200C= (p.Leu1734=)
12g.51806653C>GCA384884126SCN8Ac.5167C>G (p.Leu1723Val)
c.3231C>G
c.5044C>G (p.Leu1682Val)
c.5200C>G (p.Leu1734Val)
 ClinVar dbSNP gnomAD v4
12g.51806653C>TCA236327499SCN8Ac.5167C>T (p.Leu1723=)
c.3231C>T
c.5044C>T (p.Leu1682=)
c.5200C>T (p.Leu1734=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51806654T>ACA384884132SCN8Ac.5168T>A (p.Leu1723Gln)
c.3232T>A
c.5045T>A (p.Leu1682Gln)
c.5201T>A (p.Leu1734Gln)
12g.51806654T>CCA384884137SCN8Ac.5168T>C (p.Leu1723Pro)
c.3232T>C
c.5045T>C (p.Leu1682Pro)
c.5201T>C (p.Leu1734Pro)
12g.51806654T>GCA384884140SCN8Ac.5168T>G (p.Leu1723Arg)
c.3232T>G
c.5045T>G (p.Leu1682Arg)
c.5201T>G (p.Leu1734Arg)
12g.51806655A>CCA480062133SCN8Ac.5169A>C (p.Leu1723=)
c.3233A>C
c.5046A>C (p.Leu1682=)
c.5202A>C (p.Leu1734=)
12g.51806655A>GCA480062135SCN8Ac.5169A>G (p.Leu1723=)
c.3233A>G
c.5046A>G (p.Leu1682=)
c.5202A>G (p.Leu1734=)
12g.51806655A>TCA480062137SCN8Ac.5169A>T (p.Leu1723=)
c.3233A>T
c.5046A>T (p.Leu1682=)
c.5202A>T (p.Leu1734=)
12g.51806656G>ACA384884152SCN8Ac.5170G>A (p.Asp1724Asn)
c.3234G>A
c.5047G>A (p.Asp1683Asn)
c.5203G>A (p.Asp1735Asn)
12g.51806656G>CCA384884156SCN8Ac.5170G>C (p.Asp1724His)
c.3234G>C
c.5047G>C (p.Asp1683His)
c.5203G>C (p.Asp1735His)
 dbSNP gnomAD v2 gnomAD v4
12g.51806656G=CA2036193468SCN8Ac.5170G= (p.Asp1724=)
c.3234G=
c.5047G= (p.Asp1683=)
c.5203G= (p.Asp1735=)
12g.51806656G>TCA384884172SCN8Ac.5170G>T (p.Asp1724Tyr)
c.3234G>T
c.5047G>T (p.Asp1683Tyr)
c.5203G>T (p.Asp1735Tyr)
 ClinVar dbSNP
12g.51806657A>CCA384884179SCN8Ac.5171A>C (p.Asp1724Ala)
c.3235A>C
c.5048A>C (p.Asp1683Ala)
c.5204A>C (p.Asp1735Ala)
12g.51806657A>GCA384884185SCN8Ac.5171A>G (p.Asp1724Gly)
c.3235A>G
c.5048A>G (p.Asp1683Gly)
c.5204A>G (p.Asp1735Gly)
12g.51806657A>TCA384884189SCN8Ac.5171A>T (p.Asp1724Val)
c.3235A>T
c.5048A>T (p.Asp1683Val)
c.5204A>T (p.Asp1735Val)
12g.51806658T>ACA384884190SCN8Ac.5172T>A (p.Asp1724Glu)
c.3236T>A
c.5049T>A (p.Asp1683Glu)
c.5205T>A (p.Asp1735Glu)
12g.51806658T>CCA480062150SCN8Ac.5172T>C (p.Asp1724=)
c.3236T>C
c.5049T>C (p.Asp1683=)
c.5205T>C (p.Asp1735=)
12g.51806658T>GCA384884191SCN8Ac.5172T>G (p.Asp1724Glu)
c.3236T>G
c.5049T>G (p.Asp1683Glu)
c.5205T>G (p.Asp1735Glu)
12g.51806659A=CA2036193480SCN8Ac.5173A= (p.Lys1725=)
c.3237A=
c.5050A= (p.Lys1684=)
c.5206A= (p.Lys1736=)
12g.51806659A>CCA384884196SCN8Ac.5173A>C (p.Lys1725Gln)
c.3237A>C
c.5050A>C (p.Lys1684Gln)
c.5206A>C (p.Lys1736Gln)
12g.51806659A>GCA384884205SCN8Ac.5173A>G (p.Lys1725Glu)
c.3237A>G
c.5050A>G (p.Lys1684Glu)
c.5206A>G (p.Lys1736Glu)
12g.51806659A>TCA384884202SCN8Ac.5173A>T (p.Lys1725Ter)
c.3237A>T
c.5050A>T (p.Lys1684Ter)
c.5206A>T (p.Lys1736Ter)
 dbSNP
12g.51806660A>CCA384884209SCN8Ac.5174A>C (p.Lys1725Thr)
c.3238A>C
c.5051A>C (p.Lys1684Thr)
c.5207A>C (p.Lys1736Thr)
12g.51806660A>GCA384884213SCN8Ac.5174A>G (p.Lys1725Arg)
c.3238A>G
c.5051A>G (p.Lys1684Arg)
c.5207A>G (p.Lys1736Arg)
12g.51806660A>TCA384884215SCN8Ac.5174A>T (p.Lys1725Met)
c.3238A>T
c.5051A>T (p.Lys1684Met)
c.5207A>T (p.Lys1736Met)
12g.51806661G>ACA480062159SCN8Ac.5175G>A (p.Lys1725=)
c.3239G>A
c.5052G>A (p.Lys1684=)
c.5208G>A (p.Lys1736=)
12g.51806661G>CCA384884220SCN8Ac.5175G>C (p.Lys1725Asn)
c.3239G>C
c.5052G>C (p.Lys1684Asn)
c.5208G>C (p.Lys1736Asn)
12g.51806661G>TCA384884221SCN8Ac.5175G>T (p.Lys1725Asn)
c.3239G>T
c.5052G>T (p.Lys1684Asn)
c.5208G>T (p.Lys1736Asn)
12g.51806662G>ACA384884222SCN8Ac.5176G>A (p.Glu1726Lys)
c.3240G>A
c.5053G>A (p.Glu1685Lys)
c.5209G>A (p.Glu1737Lys)
12g.51806662G>CCA384884225SCN8Ac.5176G>C (p.Glu1726Gln)
c.3240G>C
c.5053G>C (p.Glu1685Gln)
c.5209G>C (p.Glu1737Gln)
 gnomAD v4
12g.51806662G=CA2036193490SCN8Ac.5176G= (p.Glu1726=)
c.3240G=
c.5053G= (p.Glu1685=)
c.5209G= (p.Glu1737=)
12g.51806662G>TCA384884231SCN8Ac.5176G>T (p.Glu1726Ter)
c.3240G>T
c.5053G>T (p.Glu1685Ter)
c.5209G>T (p.Glu1737Ter)
 ClinVar dbSNP
12g.51806663A>CCA384884236SCN8Ac.5177A>C (p.Glu1726Ala)
c.3241A>C
c.5054A>C (p.Glu1685Ala)
c.5210A>C (p.Glu1737Ala)
12g.51806663A>GCA384884242SCN8Ac.5177A>G (p.Glu1726Gly)
c.3241A>G
c.5054A>G (p.Glu1685Gly)
c.5210A>G (p.Glu1737Gly)
12g.51806663A>TCA384884249SCN8Ac.5177A>T (p.Glu1726Val)
c.3241A>T
c.5054A>T (p.Glu1685Val)
c.5210A>T (p.Glu1737Val)
12g.51806664A>CCA384884252SCN8Ac.5178A>C (p.Glu1726Asp)
c.3242A>C
c.5055A>C (p.Glu1685Asp)
c.5211A>C (p.Glu1737Asp)
12g.51806664A>GCA480062166SCN8Ac.5178A>G (p.Glu1726=)
c.3242A>G
c.5055A>G (p.Glu1685=)
c.5211A>G (p.Glu1737=)
 ClinVar dbSNP
12g.51806664A>TCA384884253SCN8Ac.5178A>T (p.Glu1726Asp)
c.3242A>T
c.5055A>T (p.Glu1685Asp)
c.5211A>T (p.Glu1737Asp)
12g.51806666_51806667dupCA947652693SCN8Ac.5180_5181dup (p.Pro1728ThrfsTer21)
c.3244_3245dup
c.5057_5058dup (p.Pro1687ThrfsTer21)
c.5213_5214dup (p.Pro1739ThrfsTer21)
 gnomAD v3 gnomAD v4

Number of alleles fetched