Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
 ClinVar
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=)
12g.51806436C>GCA479788180SCN8Ac.4950C>G (p.Ala1650=)
c.3014C>G
c.4827C>G (p.Ala1609=)
c.4983C>G (p.Ala1661=)
12g.51806436C>TCA479788181SCN8Ac.4950C>T (p.Ala1650=)
c.3014C>T
c.4827C>T (p.Ala1609=)
c.4983C>T (p.Ala1661=)
12g.51806437C>ACA384880655SCN8Ac.4951C>A (p.Leu1651Met)
c.3015C>A
c.4828C>A (p.Leu1610Met)
c.4984C>A (p.Leu1662Met)
12g.51806437C>GCA384880657SCN8Ac.4951C>G (p.Leu1651Val)
c.3015C>G
c.4828C>G (p.Leu1610Val)
c.4984C>G (p.Leu1662Val)
12g.51806437C>TCA479788182SCN8Ac.4951C>T (p.Leu1651=)
c.3015C>T
c.4828C>T (p.Leu1610=)
c.4984C>T (p.Leu1662=)
 COSMIC COSMIC
12g.51806438T>ACA384880660SCN8Ac.4952T>A (p.Leu1651Gln)
c.3016T>A
c.4829T>A (p.Leu1610Gln)
c.4985T>A (p.Leu1662Gln)
12g.51806438T>CCA384880662SCN8Ac.4952T>C (p.Leu1651Pro)
c.3016T>C
c.4829T>C (p.Leu1610Pro)
c.4985T>C (p.Leu1662Pro)
12g.51806438T>GCA384880664SCN8Ac.4952T>G (p.Leu1651Arg)
c.3016T>G
c.4829T>G (p.Leu1610Arg)
c.4985T>G (p.Leu1662Arg)
12g.51806439G>ACA479788183SCN8Ac.4953G>A (p.Leu1651=)
c.3017G>A
c.4830G>A (p.Leu1610=)
c.4986G>A (p.Leu1662=)
12g.51806439G>CCA479788184SCN8Ac.4953G>C (p.Leu1651=)
c.3017G>C
c.4830G>C (p.Leu1610=)
c.4986G>C (p.Leu1662=)
12g.51806439G=CA2036193114SCN8Ac.4953G= (p.Leu1651=)
c.3017G=
c.4830G= (p.Leu1610=)
c.4986G= (p.Leu1662=)
12g.51806439G>TCA479788185SCN8Ac.4953G>T (p.Leu1651=)
c.3017G>T
c.4830G>T (p.Leu1610=)
c.4986G>T (p.Leu1662=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51806440T>ACA384880670SCN8Ac.4954T>A (p.Phe1652Ile)
c.3018T>A
c.4831T>A (p.Phe1611Ile)
c.4987T>A (p.Phe1663Ile)
12g.51806440T>CCA384880672SCN8Ac.4954T>C (p.Phe1652Leu)
c.3018T>C
c.4831T>C (p.Phe1611Leu)
c.4987T>C (p.Phe1663Leu)
12g.51806440T>GCA384880668SCN8Ac.4954T>G (p.Phe1652Val)
c.3018T>G
c.4831T>G (p.Phe1611Val)
c.4987T>G (p.Phe1663Val)
12g.51806441T>ACA384880676SCN8Ac.4955T>A (p.Phe1652Tyr)
c.3019T>A
c.4832T>A (p.Phe1611Tyr)
c.4988T>A (p.Phe1663Tyr)
12g.51806441T>CCA384880677SCN8Ac.4955T>C (p.Phe1652Ser)
c.3019T>C
c.4832T>C (p.Phe1611Ser)
c.4988T>C (p.Phe1663Ser)
12g.51806441T>GCA384880678SCN8Ac.4955T>G (p.Phe1652Cys)
c.3019T>G
c.4832T>G (p.Phe1611Cys)
c.4988T>G (p.Phe1663Cys)
12g.51806442C>ACA384880679SCN8Ac.4956C>A (p.Phe1652Leu)
c.3020C>A
c.4833C>A (p.Phe1611Leu)
c.4989C>A (p.Phe1663Leu)
12g.51806442C=CA2036193119SCN8Ac.4956C= (p.Phe1652=)
c.3020C=
c.4833C= (p.Phe1611=)
c.4989C= (p.Phe1663=)
12g.51806442C>GCA384880680SCN8Ac.4956C>G (p.Phe1652Leu)
c.3020C>G
c.4833C>G (p.Phe1611Leu)
c.4989C>G (p.Phe1663Leu)
12g.51806442C>TCA479788186SCN8Ac.4956C>T (p.Phe1652=)
c.3020C>T
c.4833C>T (p.Phe1611=)
c.4989C>T (p.Phe1663=)
 dbSNP gnomAD v4
12g.51806443A>CCA384880681SCN8Ac.4957A>C (p.Asn1653His)
c.3021A>C
c.4834A>C (p.Asn1612His)
c.4990A>C (p.Asn1664His)
12g.51806443A>GCA384880682SCN8Ac.4957A>G (p.Asn1653Asp)
c.3021A>G
c.4834A>G (p.Asn1612Asp)
c.4990A>G (p.Asn1664Asp)
12g.51806443A>TCA384880684SCN8Ac.4957A>T (p.Asn1653Tyr)
c.3021A>T
c.4834A>T (p.Asn1612Tyr)
c.4990A>T (p.Asn1664Tyr)
12g.51806444A>CCA384880687SCN8Ac.4958A>C (p.Asn1653Thr)
c.3022A>C
c.4835A>C (p.Asn1612Thr)
c.4991A>C (p.Asn1664Thr)
12g.51806444A>GCA384880689SCN8Ac.4958A>G (p.Asn1653Ser)
c.3022A>G
c.4835A>G (p.Asn1612Ser)
c.4991A>G (p.Asn1664Ser)
 ClinVar dbSNP
12g.51806444A>TCA384880692SCN8Ac.4958A>T (p.Asn1653Ile)
c.3022A>T
c.4835A>T (p.Asn1612Ile)
c.4991A>T (p.Asn1664Ile)
12g.51806445C>ACA384880693SCN8Ac.4959C>A (p.Asn1653Lys)
c.3023C>A
c.4836C>A (p.Asn1612Lys)
c.4992C>A (p.Asn1664Lys)
12g.51806445C>GCA384880695SCN8Ac.4959C>G (p.Asn1653Lys)
c.3023C>G
c.4836C>G (p.Asn1612Lys)
c.4992C>G (p.Asn1664Lys)
12g.51806445C>TCA479788187SCN8Ac.4959C>T (p.Asn1653=)
c.3023C>T
c.4836C>T (p.Asn1612=)
c.4992C>T (p.Asn1664=)
 gnomAD v4
12g.51806446A>CCA384880696SCN8Ac.4960A>C (p.Ile1654Leu)
c.3024A>C
c.4837A>C (p.Ile1613Leu)
c.4993A>C (p.Ile1665Leu)
12g.51806446A>GCA384880698SCN8Ac.4960A>G (p.Ile1654Val)
c.3024A>G
c.4837A>G (p.Ile1613Val)
c.4993A>G (p.Ile1665Val)
12g.51806446A>TCA384880697SCN8Ac.4960A>T (p.Ile1654Phe)
c.3024A>T
c.4837A>T (p.Ile1613Phe)
c.4993A>T (p.Ile1665Phe)
12g.51806447T>ACA384880702SCN8Ac.4961T>A (p.Ile1654Asn)
c.3025T>A
c.4838T>A (p.Ile1613Asn)
c.4994T>A (p.Ile1665Asn)
 ClinVar
12g.51806447T>CCA384880703SCN8Ac.4961T>C (p.Ile1654Thr)
c.3025T>C
c.4838T>C (p.Ile1613Thr)
c.4994T>C (p.Ile1665Thr)
 COSMIC COSMIC
12g.51806447T>GCA384880706SCN8Ac.4961T>G (p.Ile1654Ser)
c.3025T>G
c.4838T>G (p.Ile1613Ser)
c.4994T>G (p.Ile1665Ser)
12g.51806448C>ACA480061745SCN8Ac.4962C>A (p.Ile1654=)
c.3026C>A
c.4839C>A (p.Ile1613=)
c.4995C>A (p.Ile1665=)
12g.51806448C=CA2036193124SCN8Ac.4962C= (p.Ile1654=)
c.3026C=
c.4839C= (p.Ile1613=)
c.4995C= (p.Ile1665=)
12g.51806448C>GCA384882042SCN8Ac.4962C>G (p.Ile1654Met)
c.3026C>G
c.4839C>G (p.Ile1613Met)
c.4995C>G (p.Ile1665Met)
12g.51806448C>TCA6571882SCN8Ac.4962C>T (p.Ile1654=)
c.3026C>T
c.4839C>T (p.Ile1613=)
c.4995C>T (p.Ile1665=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806449G>ACA384882049SCN8Ac.4963G>A (p.Gly1655Ser)
c.3027G>A
c.4840G>A (p.Gly1614Ser)
c.4996G>A (p.Gly1666Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51806449G>CCA384882052SCN8Ac.4963G>C (p.Gly1655Arg)
c.3027G>C
c.4840G>C (p.Gly1614Arg)
c.4996G>C (p.Gly1666Arg)
12g.51806449G=CA2036193129SCN8Ac.4963G= (p.Gly1655=)
c.3027G=
c.4840G= (p.Gly1614=)
c.4996G= (p.Gly1666=)
12g.51806449G>TCA384882054SCN8Ac.4963G>T (p.Gly1655Cys)
c.3027G>T
c.4840G>T (p.Gly1614Cys)
c.4996G>T (p.Gly1666Cys)
12g.51806450G>ACA384882059SCN8Ac.4964G>A (p.Gly1655Asp)
c.3028G>A
c.4841G>A (p.Gly1614Asp)
c.4997G>A (p.Gly1666Asp)
12g.51806450G>CCA384882060SCN8Ac.4964G>C (p.Gly1655Ala)
c.3028G>C
c.4841G>C (p.Gly1614Ala)
c.4997G>C (p.Gly1666Ala)
12g.51806450G>TCA384882064SCN8Ac.4964G>T (p.Gly1655Val)
c.3028G>T
c.4841G>T (p.Gly1614Val)
c.4997G>T (p.Gly1666Val)
12g.51806451C>ACA480061749SCN8Ac.4965C>A (p.Gly1655=)
c.3029C>A
c.4842C>A (p.Gly1614=)
c.4998C>A (p.Gly1666=)
12g.51806451C>GCA480061748SCN8Ac.4965C>G (p.Gly1655=)
c.3029C>G
c.4842C>G (p.Gly1614=)
c.4998C>G (p.Gly1666=)
12g.51806451C>TCA480061747SCN8Ac.4965C>T (p.Gly1655=)
c.3029C>T
c.4842C>T (p.Gly1614=)
c.4998C>T (p.Gly1666=)
 gnomAD v4
12g.51806452C>ACA384882071SCN8Ac.4966C>A (p.Leu1656Ile)
c.3030C>A
c.4843C>A (p.Leu1615Ile)
c.4999C>A (p.Leu1667Ile)
12g.51806452C=CA2036193137SCN8Ac.4966C= (p.Leu1656=)
c.3030C=
c.4843C= (p.Leu1615=)
c.4999C= (p.Leu1667=)
12g.51806452C>GCA384882073SCN8Ac.4966C>G (p.Leu1656Val)
c.3030C>G
c.4843C>G (p.Leu1615Val)
c.4999C>G (p.Leu1667Val)
12g.51806452C>TCA384882068SCN8Ac.4966C>T (p.Leu1656Phe)
c.3030C>T
c.4843C>T (p.Leu1615Phe)
c.4999C>T (p.Leu1667Phe)
 ClinVar dbSNP
12g.51806453T>ACA384882076SCN8Ac.4967T>A (p.Leu1656His)
c.3031T>A
c.4844T>A (p.Leu1615His)
c.5000T>A (p.Leu1667His)
12g.51806453T>CCA384882084SCN8Ac.4967T>C (p.Leu1656Pro)
c.3031T>C
c.4844T>C (p.Leu1615Pro)
c.5000T>C (p.Leu1667Pro)
12g.51806453T>GCA384882079SCN8Ac.4967T>G (p.Leu1656Arg)
c.3031T>G
c.4844T>G (p.Leu1615Arg)
c.5000T>G (p.Leu1667Arg)
12g.51806454T>ACA480061753SCN8Ac.4968T>A (p.Leu1656=)
c.3032T>A
c.4845T>A (p.Leu1615=)
c.5001T>A (p.Leu1667=)
12g.51806454T>CCA236327434SCN8Ac.4968T>C (p.Leu1656=)
c.3032T>C
c.4845T>C (p.Leu1615=)
c.5001T>C (p.Leu1667=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806454T>GCA480061754SCN8Ac.4968T>G (p.Leu1656=)
c.3032T>G
c.4845T>G (p.Leu1615=)
c.5001T>G (p.Leu1667=)
12g.51806454T=CA2036193140SCN8Ac.4968T= (p.Leu1656=)
c.3032T=
c.4845T= (p.Leu1615=)
c.5001T= (p.Leu1667=)
12g.51806455C>ACA384882097SCN8Ac.4969C>A (p.Leu1657Met)
c.3033C>A
c.4846C>A (p.Leu1616Met)
c.5002C>A (p.Leu1668Met)
12g.51806455C=CA2036193145SCN8Ac.4969C= (p.Leu1657=)
c.3033C=
c.4846C= (p.Leu1616=)
c.5002C= (p.Leu1668=)
12g.51806455C>GCA384882090SCN8Ac.4969C>G (p.Leu1657Val)
c.3033C>G
c.4846C>G (p.Leu1616Val)
c.5002C>G (p.Leu1668Val)
12g.51806455C>TCA6571883SCN8Ac.4969C>T (p.Leu1657=)
c.3033C>T
c.4846C>T (p.Leu1616=)
c.5002C>T (p.Leu1668=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806456T>ACA384882100SCN8Ac.4970T>A (p.Leu1657Gln)
c.3034T>A
c.4847T>A (p.Leu1616Gln)
c.5003T>A (p.Leu1668Gln)
12g.51806456T>CCA384882101SCN8Ac.4970T>C (p.Leu1657Pro)
c.3034T>C
c.4847T>C (p.Leu1616Pro)
c.5003T>C (p.Leu1668Pro)
12g.51806456T>GCA384882102SCN8Ac.4970T>G (p.Leu1657Arg)
c.3034T>G
c.4847T>G (p.Leu1616Arg)
c.5003T>G (p.Leu1668Arg)
12g.51806457G>ACA480061756SCN8Ac.4971G>A (p.Leu1657=)
c.3035G>A
c.4848G>A (p.Leu1616=)
c.5004G>A (p.Leu1668=)
 ClinVar gnomAD v4
12g.51806457G>CCA480061757SCN8Ac.4971G>C (p.Leu1657=)
c.3035G>C
c.4848G>C (p.Leu1616=)
c.5004G>C (p.Leu1668=)
 gnomAD v4
12g.51806457G>TCA480061758SCN8Ac.4971G>T (p.Leu1657=)
c.3035G>T
c.4848G>T (p.Leu1616=)
c.5004G>T (p.Leu1668=)
12g.51806458C>ACA384882107SCN8Ac.4972C>A (p.Leu1658Ile)
c.3036C>A
c.4849C>A (p.Leu1617Ile)
c.5005C>A (p.Leu1669Ile)
12g.51806458C=CA2036193150SCN8Ac.4972C= (p.Leu1658=)
c.3036C=
c.4849C= (p.Leu1617=)
c.5005C= (p.Leu1669=)
12g.51806458C>GCA384882110SCN8Ac.4972C>G (p.Leu1658Val)
c.3036C>G
c.4849C>G (p.Leu1617Val)
c.5005C>G (p.Leu1669Val)
12g.51806458C>TCA384882113SCN8Ac.4972C>T (p.Leu1658Phe)
c.3036C>T
c.4849C>T (p.Leu1617Phe)
c.5005C>T (p.Leu1669Phe)
 ClinVar dbSNP
12g.51806459T>ACA384882115SCN8Ac.4973T>A (p.Leu1658His)
c.3037T>A
c.4850T>A (p.Leu1617His)
c.5006T>A (p.Leu1669His)
12g.51806459T>CCA384882119SCN8Ac.4973T>C (p.Leu1658Pro)
c.3037T>C
c.4850T>C (p.Leu1617Pro)
c.5006T>C (p.Leu1669Pro)
12g.51806459T>GCA384882120SCN8Ac.4973T>G (p.Leu1658Arg)
c.3037T>G
c.4850T>G (p.Leu1617Arg)
c.5006T>G (p.Leu1669Arg)
12g.51806460C>ACA480061760SCN8Ac.4974C>A (p.Leu1658=)
c.3038C>A
c.4851C>A (p.Leu1617=)
c.5007C>A (p.Leu1669=)
12g.51806460C>GCA480061761SCN8Ac.4974C>G (p.Leu1658=)
c.3038C>G
c.4851C>G (p.Leu1617=)
c.5007C>G (p.Leu1669=)
12g.51806460C>TCA480061762SCN8Ac.4974C>T (p.Leu1658=)
c.3038C>T
c.4851C>T (p.Leu1617=)
c.5007C>T (p.Leu1669=)
12g.51806461T>ACA384882130SCN8Ac.4975T>A (p.Phe1659Ile)
c.3039T>A
c.4852T>A (p.Phe1618Ile)
c.5008T>A (p.Phe1670Ile)
12g.51806461T>CCA384882126SCN8Ac.4975T>C (p.Phe1659Leu)
c.3039T>C
c.4852T>C (p.Phe1618Leu)
c.5008T>C (p.Phe1670Leu)
12g.51806461T>GCA384882129SCN8Ac.4975T>G (p.Phe1659Val)
c.3039T>G
c.4852T>G (p.Phe1618Val)
c.5008T>G (p.Phe1670Val)
12g.51806462T>ACA384882131SCN8Ac.4976T>A (p.Phe1659Tyr)
c.3040T>A
c.4853T>A (p.Phe1618Tyr)
c.5009T>A (p.Phe1670Tyr)
12g.51806462T>CCA384882134SCN8Ac.4976T>C (p.Phe1659Ser)
c.3040T>C
c.4853T>C (p.Phe1618Ser)
c.5009T>C (p.Phe1670Ser)
12g.51806462T>GCA384882136SCN8Ac.4976T>G (p.Phe1659Cys)
c.3040T>G
c.4853T>G (p.Phe1618Cys)
c.5009T>G (p.Phe1670Cys)
12g.51806463C>ACA384882138SCN8Ac.4977C>A (p.Phe1659Leu)
c.3041C>A
c.4854C>A (p.Phe1618Leu)
c.5010C>A (p.Phe1670Leu)
12g.51806463C>GCA384882142SCN8Ac.4977C>G (p.Phe1659Leu)
c.3041C>G
c.4854C>G (p.Phe1618Leu)
c.5010C>G (p.Phe1670Leu)
12g.51806463C>TCA480061764SCN8Ac.4977C>T (p.Phe1659=)
c.3041C>T
c.4854C>T (p.Phe1618=)
c.5010C>T (p.Phe1670=)
 COSMIC COSMIC
12g.51806464C>ACA384882145SCN8Ac.4978C>A (p.Leu1660Met)
c.3042C>A
c.4855C>A (p.Leu1619Met)
c.5011C>A (p.Leu1671Met)
12g.51806464C=CA2036193155SCN8Ac.4978C= (p.Leu1660=)
c.3042C=
c.4855C= (p.Leu1619=)
c.5011C= (p.Leu1671=)
12g.51806464C>GCA384882148SCN8Ac.4978C>G (p.Leu1660Val)
c.3042C>G
c.4855C>G (p.Leu1619Val)
c.5011C>G (p.Leu1671Val)
12g.51806464C>TCA480061765SCN8Ac.4978C>T (p.Leu1660=)
c.3042C>T
c.4855C>T (p.Leu1619=)
c.5011C>T (p.Leu1671=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51806465T>ACA384882152SCN8Ac.4979T>A (p.Leu1660Gln)
c.3043T>A
c.4856T>A (p.Leu1619Gln)
c.5012T>A (p.Leu1671Gln)
 ClinVar
12g.51806465T>CCA384882155SCN8Ac.4979T>C (p.Leu1660Pro)
c.3043T>C
c.4856T>C (p.Leu1619Pro)
c.5012T>C (p.Leu1671Pro)
12g.51806465T>GCA384882157SCN8Ac.4979T>G (p.Leu1660Arg)
c.3043T>G
c.4856T>G (p.Leu1619Arg)
c.5012T>G (p.Leu1671Arg)
12g.51806466G>ACA480061767SCN8Ac.4980G>A (p.Leu1660=)
c.3044G>A
c.4857G>A (p.Leu1619=)
c.5013G>A (p.Leu1671=)
 dbSNP gnomAD v2
12g.51806466G>CCA6571884SCN8Ac.4980G>C (p.Leu1660=)
c.3044G>C
c.4857G>C (p.Leu1619=)
c.5013G>C (p.Leu1671=)
 dbSNP ExAC gnomAD v2
12g.51806466G=CA2036193161SCN8Ac.4980G= (p.Leu1660=)
c.3044G=
c.4857G= (p.Leu1619=)
c.5013G= (p.Leu1671=)
12g.51806466G>TCA480061770SCN8Ac.4980G>T (p.Leu1660=)
c.3044G>T
c.4857G>T (p.Leu1619=)
c.5013G>T (p.Leu1671=)
12g.51806467G>ACA384882164SCN8Ac.4981G>A (p.Val1661Ile)
c.3045G>A
c.4858G>A (p.Val1620Ile)
c.5014G>A (p.Val1672Ile)
 ClinVar
12g.51806467G>CCA384882166SCN8Ac.4981G>C (p.Val1661Leu)
c.3045G>C
c.4858G>C (p.Val1620Leu)
c.5014G>C (p.Val1672Leu)
12g.51806467G>TCA384882162SCN8Ac.4981G>T (p.Val1661Phe)
c.3045G>T
c.4858G>T (p.Val1620Phe)
c.5014G>T (p.Val1672Phe)
12g.51806468T>ACA384882169SCN8Ac.4982T>A (p.Val1661Asp)
c.3046T>A
c.4859T>A (p.Val1620Asp)
c.5015T>A (p.Val1672Asp)
12g.51806468T>CCA384882173SCN8Ac.4982T>C (p.Val1661Ala)
c.3046T>C
c.4859T>C (p.Val1620Ala)
c.5015T>C (p.Val1672Ala)
12g.51806468T>GCA384882175SCN8Ac.4982T>G (p.Val1661Gly)
c.3046T>G
c.4859T>G (p.Val1620Gly)
c.5015T>G (p.Val1672Gly)
12g.51806469C>ACA480061771SCN8Ac.4983C>A (p.Val1661=)
c.3047C>A
c.4860C>A (p.Val1620=)
c.5016C>A (p.Val1672=)
12g.51806469C=CA2036193164SCN8Ac.4983C= (p.Val1661=)
c.3047C=
c.4860C= (p.Val1620=)
c.5016C= (p.Val1672=)
12g.51806469C>GCA480061773SCN8Ac.4983C>G (p.Val1661=)
c.3047C>G
c.4860C>G (p.Val1620=)
c.5016C>G (p.Val1672=)
12g.51806469C>TCA480061775SCN8Ac.4983C>T (p.Val1661=)
c.3047C>T
c.4860C>T (p.Val1620=)
c.5016C>T (p.Val1672=)
 ClinVar dbSNP gnomAD v4
12g.51806470A>CCA384882188SCN8Ac.4984A>C (p.Met1662Leu)
c.3048A>C
c.4861A>C (p.Met1621Leu)
c.5017A>C (p.Met1673Leu)
12g.51806470A>GCA384882190SCN8Ac.4984A>G (p.Met1662Val)
c.3048A>G
c.4861A>G (p.Met1621Val)
c.5017A>G (p.Met1673Val)
 gnomAD v4
12g.51806470A>TCA384882193SCN8Ac.4984A>T (p.Met1662Leu)
c.3048A>T
c.4861A>T (p.Met1621Leu)
c.5017A>T (p.Met1673Leu)
12g.51806471T>ACA384882195SCN8Ac.4985T>A (p.Met1662Lys)
c.3049T>A
c.4862T>A (p.Met1621Lys)
c.5018T>A (p.Met1673Lys)
12g.51806471T>CCA384882196SCN8Ac.4985T>C (p.Met1662Thr)
c.3049T>C
c.4862T>C (p.Met1621Thr)
c.5018T>C (p.Met1673Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.51806471T>GCA384882197SCN8Ac.4985T>G (p.Met1662Arg)
c.3049T>G
c.4862T>G (p.Met1621Arg)
c.5018T>G (p.Met1673Arg)
12g.51806471T=CA2036193171SCN8Ac.4985T= (p.Met1662=)
c.3049T=
c.4862T= (p.Met1621=)
c.5018T= (p.Met1673=)
12g.51806472G>ACA384882200SCN8Ac.4986G>A (p.Met1662Ile)
c.3050G>A
c.4863G>A (p.Met1621Ile)
c.5019G>A (p.Met1673Ile)
12g.51806472G>CCA384882202SCN8Ac.4986G>C (p.Met1662Ile)
c.3050G>C
c.4863G>C (p.Met1621Ile)
c.5019G>C (p.Met1673Ile)
12g.51806472G>TCA384882204SCN8Ac.4986G>T (p.Met1662Ile)
c.3050G>T
c.4863G>T (p.Met1621Ile)
c.5019G>T (p.Met1673Ile)
12g.51806473T>ACA384882211SCN8Ac.4987T>A (p.Phe1663Ile)
c.3051T>A
c.4864T>A (p.Phe1622Ile)
c.5020T>A (p.Phe1674Ile)
12g.51806473T>CCA384882207SCN8Ac.4987T>C (p.Phe1663Leu)
c.3051T>C
c.4864T>C (p.Phe1622Leu)
c.5020T>C (p.Phe1674Leu)
12g.51806473T>GCA384882209SCN8Ac.4987T>G (p.Phe1663Val)
c.3051T>G
c.4864T>G (p.Phe1622Val)
c.5020T>G (p.Phe1674Val)
12g.51806474T>ACA384882214SCN8Ac.4988T>A (p.Phe1663Tyr)
c.3052T>A
c.4865T>A (p.Phe1622Tyr)
c.5021T>A (p.Phe1674Tyr)
12g.51806474T>CCA384882216SCN8Ac.4988T>C (p.Phe1663Ser)
c.3052T>C
c.4865T>C (p.Phe1622Ser)
c.5021T>C (p.Phe1674Ser)
12g.51806474T>GCA384882217SCN8Ac.4988T>G (p.Phe1663Cys)
c.3052T>G
c.4865T>G (p.Phe1622Cys)
c.5021T>G (p.Phe1674Cys)
12g.51806475C>ACA384882219SCN8Ac.4989C>A (p.Phe1663Leu)
c.3053C>A
c.4866C>A (p.Phe1622Leu)
c.5022C>A (p.Phe1674Leu)
12g.51806475C=CA2036193175SCN8Ac.4989C= (p.Phe1663=)
c.3053C=
c.4866C= (p.Phe1622=)
c.5022C= (p.Phe1674=)
12g.51806475C>GCA384882221SCN8Ac.4989C>G (p.Phe1663Leu)
c.3053C>G
c.4866C>G (p.Phe1622Leu)
c.5022C>G (p.Phe1674Leu)
12g.51806475C>TCA480061778SCN8Ac.4989C>T (p.Phe1663=)
c.3053C>T
c.4866C>T (p.Phe1622=)
c.5022C>T (p.Phe1674=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51806476A>CCA384882225SCN8Ac.4990A>C (p.Ile1664Leu)
c.3054A>C
c.4867A>C (p.Ile1623Leu)
c.5023A>C (p.Ile1675Leu)
12g.51806476A>GCA384882228SCN8Ac.4990A>G (p.Ile1664Val)
c.3054A>G
c.4867A>G (p.Ile1623Val)
c.5023A>G (p.Ile1675Val)
12g.51806476A>TCA384882231SCN8Ac.4990A>T (p.Ile1664Phe)
c.3054A>T
c.4867A>T (p.Ile1623Phe)
c.5023A>T (p.Ile1675Phe)
12g.51806477T>ACA384882244SCN8Ac.4991T>A (p.Ile1664Asn)
c.3055T>A
c.4868T>A (p.Ile1623Asn)
c.5024T>A (p.Ile1675Asn)
12g.51806477T>CCA384882247SCN8Ac.4991T>C (p.Ile1664Thr)
c.3055T>C
c.4868T>C (p.Ile1623Thr)
c.5024T>C (p.Ile1675Thr)
12g.51806477T>GCA384882251SCN8Ac.4991T>G (p.Ile1664Ser)
c.3055T>G
c.4868T>G (p.Ile1623Ser)
c.5024T>G (p.Ile1675Ser)
12g.51806478C>ACA480061779SCN8Ac.4992C>A (p.Ile1664=)
c.3056C>A
c.4869C>A (p.Ile1623=)
c.5025C>A (p.Ile1675=)
 gnomAD v4
12g.51806478C>GCA384882254SCN8Ac.4992C>G (p.Ile1664Met)
c.3056C>G
c.4869C>G (p.Ile1623Met)
c.5025C>G (p.Ile1675Met)
12g.51806478C>TCA480061780SCN8Ac.4992C>T (p.Ile1664=)
c.3056C>T
c.4869C>T (p.Ile1623=)
c.5025C>T (p.Ile1675=)
 COSMIC COSMIC
12g.51806479T>ACA384882268SCN8Ac.4993T>A (p.Phe1665Ile)
c.3057T>A
c.4870T>A (p.Phe1624Ile)
c.5026T>A (p.Phe1676Ile)
12g.51806479T>CCA384882266SCN8Ac.4993T>C (p.Phe1665Leu)
c.3057T>C
c.4870T>C (p.Phe1624Leu)
c.5026T>C (p.Phe1676Leu)
12g.51806479T>GCA384882259SCN8Ac.4993T>G (p.Phe1665Val)
c.3057T>G
c.4870T>G (p.Phe1624Val)
c.5026T>G (p.Phe1676Val)
12g.51806480T>ACA384882273SCN8Ac.4994T>A (p.Phe1665Tyr)
c.3058T>A
c.4871T>A (p.Phe1624Tyr)
c.5027T>A (p.Phe1676Tyr)
12g.51806480T>CCA384882278SCN8Ac.4994T>C (p.Phe1665Ser)
c.3058T>C
c.4871T>C (p.Phe1624Ser)
c.5027T>C (p.Phe1676Ser)
12g.51806480T>GCA384882275SCN8Ac.4994T>G (p.Phe1665Cys)
c.3058T>G
c.4871T>G (p.Phe1624Cys)
c.5027T>G (p.Phe1676Cys)
12g.51806481C>ACA384882282SCN8Ac.4995C>A (p.Phe1665Leu)
c.3059C>A
c.4872C>A (p.Phe1624Leu)
c.5028C>A (p.Phe1676Leu)
12g.51806481C=CA2036193178SCN8Ac.4995C= (p.Phe1665=)
c.3059C=
c.4872C= (p.Phe1624=)
c.5028C= (p.Phe1676=)
12g.51806481C>GCA384882286SCN8Ac.4995C>G (p.Phe1665Leu)
c.3059C>G
c.4872C>G (p.Phe1624Leu)
c.5028C>G (p.Phe1676Leu)
12g.51806481C>TCA480061782SCN8Ac.4995C>T (p.Phe1665=)
c.3059C>T
c.4872C>T (p.Phe1624=)
c.5028C>T (p.Phe1676=)
 ClinVar dbSNP gnomAD v4
12g.51806482T>ACA384882289SCN8Ac.4996T>A (p.Ser1666Thr)
c.3060T>A
c.4873T>A (p.Ser1625Thr)
c.5029T>A (p.Ser1677Thr)
12g.51806482T>CCA384882292SCN8Ac.4996T>C (p.Ser1666Pro)
c.3060T>C
c.4873T>C (p.Ser1625Pro)
c.5029T>C (p.Ser1677Pro)
12g.51806482T>GCA384882295SCN8Ac.4996T>G (p.Ser1666Ala)
c.3060T>G
c.4873T>G (p.Ser1625Ala)
c.5029T>G (p.Ser1677Ala)
 gnomAD v4
12g.51806483C>ACA384882298SCN8Ac.4997C>A (p.Ser1666Tyr)
c.3061C>A
c.4874C>A (p.Ser1625Tyr)
c.5030C>A (p.Ser1677Tyr)
12g.51806483C>GCA384882301SCN8Ac.4997C>G (p.Ser1666Cys)
c.3061C>G
c.4874C>G (p.Ser1625Cys)
c.5030C>G (p.Ser1677Cys)
12g.51806483C>TCA384882304SCN8Ac.4997C>T (p.Ser1666Phe)
c.3061C>T
c.4874C>T (p.Ser1625Phe)
c.5030C>T (p.Ser1677Phe)
12g.51806484C>ACA480061785SCN8Ac.4998C>A (p.Ser1666=)
c.3062C>A
c.4875C>A (p.Ser1625=)
c.5031C>A (p.Ser1677=)
12g.51806484C>GCA480061787SCN8Ac.4998C>G (p.Ser1666=)
c.3062C>G
c.4875C>G (p.Ser1625=)
c.5031C>G (p.Ser1677=)
12g.51806484C>TCA480061786SCN8Ac.4998C>T (p.Ser1666=)
c.3062C>T
c.4875C>T (p.Ser1625=)
c.5031C>T (p.Ser1677=)
12g.51806485A>CCA384882305SCN8Ac.4999A>C (p.Ile1667Leu)
c.3063A>C
c.4876A>C (p.Ile1626Leu)
c.5032A>C (p.Ile1678Leu)
12g.51806485A>GCA384882306SCN8Ac.4999A>G (p.Ile1667Val)
c.3063A>G
c.4876A>G (p.Ile1626Val)
c.5032A>G (p.Ile1678Val)
12g.51806485A>TCA384882311SCN8Ac.4999A>T (p.Ile1667Phe)
c.3063A>T
c.4876A>T (p.Ile1626Phe)
c.5032A>T (p.Ile1678Phe)
12g.51806486T>ACA384882316SCN8Ac.5000T>A (p.Ile1667Asn)
c.3064T>A
c.4877T>A (p.Ile1626Asn)
c.5033T>A (p.Ile1678Asn)
12g.51806486T>CCA384882315SCN8Ac.5000T>C (p.Ile1667Thr)
c.3064T>C
c.4877T>C (p.Ile1626Thr)
c.5033T>C (p.Ile1678Thr)
12g.51806486T>GCA384882314SCN8Ac.5000T>G (p.Ile1667Ser)
c.3064T>G
c.4877T>G (p.Ile1626Ser)
c.5033T>G (p.Ile1678Ser)
12g.51806487T>ACA480061789SCN8Ac.5001T>A (p.Ile1667=)
c.3065T>A
c.4878T>A (p.Ile1626=)
c.5034T>A (p.Ile1678=)
12g.51806487T>CCA480061790SCN8Ac.5001T>C (p.Ile1667=)
c.3065T>C
c.4878T>C (p.Ile1626=)
c.5034T>C (p.Ile1678=)
12g.51806487T>GCA384882318SCN8Ac.5001T>G (p.Ile1667Met)
c.3065T>G
c.4878T>G (p.Ile1626Met)
c.5034T>G (p.Ile1678Met)
12g.51806488T>ACA384882325SCN8Ac.5002T>A (p.Phe1668Ile)
c.3066T>A
c.4879T>A (p.Phe1627Ile)
c.5035T>A (p.Phe1679Ile)
12g.51806488T>CCA384882328SCN8Ac.5002T>C (p.Phe1668Leu)
c.3066T>C
c.4879T>C (p.Phe1627Leu)
c.5035T>C (p.Phe1679Leu)
12g.51806488T>GCA384882330SCN8Ac.5002T>G (p.Phe1668Val)
c.3066T>G
c.4879T>G (p.Phe1627Val)
c.5035T>G (p.Phe1679Val)
12g.51806489T>ACA384882332SCN8Ac.5003T>A (p.Phe1668Tyr)
c.3067T>A
c.4880T>A (p.Phe1627Tyr)
c.5036T>A (p.Phe1679Tyr)
12g.51806489T>CCA384882336SCN8Ac.5003T>C (p.Phe1668Ser)
c.3067T>C
c.4880T>C (p.Phe1627Ser)
c.5036T>C (p.Phe1679Ser)
 gnomAD v4
12g.51806489T>GCA384882338SCN8Ac.5003T>G (p.Phe1668Cys)
c.3067T>G
c.4880T>G (p.Phe1627Cys)
c.5036T>G (p.Phe1679Cys)
12g.51806490T>ACA384882339SCN8Ac.5004T>A (p.Phe1668Leu)
c.3068T>A
c.4881T>A (p.Phe1627Leu)
c.5037T>A (p.Phe1679Leu)
12g.51806490T>CCA480061793SCN8Ac.5004T>C (p.Phe1668=)
c.3068T>C
c.4881T>C (p.Phe1627=)
c.5037T>C (p.Phe1679=)
12g.51806490T>GCA384882340SCN8Ac.5004T>G (p.Phe1668Leu)
c.3068T>G
c.4881T>G (p.Phe1627Leu)
c.5037T>G (p.Phe1679Leu)
12g.51806491G>ACA384882343SCN8Ac.5005G>A (p.Gly1669Arg)
c.3069G>A
c.4882G>A (p.Gly1628Arg)
c.5038G>A (p.Gly1680Arg)
12g.51806491G>CCA384882346SCN8Ac.5005G>C (p.Gly1669Arg)
c.3069G>C
c.4882G>C (p.Gly1628Arg)
c.5038G>C (p.Gly1680Arg)
12g.51806491G>TCA384882348SCN8Ac.5005G>T (p.Gly1669Trp)
c.3069G>T
c.4882G>T (p.Gly1628Trp)
c.5038G>T (p.Gly1680Trp)
12g.51806492G>ACA384882361SCN8Ac.5006G>A (p.Gly1669Glu)
c.3070G>A
c.4883G>A (p.Gly1628Glu)
c.5039G>A (p.Gly1680Glu)
 COSMIC COSMIC
12g.51806492G>CCA384882357SCN8Ac.5006G>C (p.Gly1669Ala)
c.3070G>C
c.4883G>C (p.Gly1628Ala)
c.5039G>C (p.Gly1680Ala)
12g.51806492G>TCA384882354SCN8Ac.5006G>T (p.Gly1669Val)
c.3070G>T
c.4883G>T (p.Gly1628Val)
c.5039G>T (p.Gly1680Val)
12g.51806493G>ACA480061795SCN8Ac.5007G>A (p.Gly1669=)
c.3071G>A
c.4884G>A (p.Gly1628=)
c.5040G>A (p.Gly1680=)
12g.51806493G>CCA6571885SCN8Ac.5007G>C (p.Gly1669=)
c.3071G>C
c.4884G>C (p.Gly1628=)
c.5040G>C (p.Gly1680=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806493G=CA2036193180SCN8Ac.5007G= (p.Gly1669=)
c.3071G=
c.4884G= (p.Gly1628=)
c.5040G= (p.Gly1680=)
12g.51806493G>TCA480061796SCN8Ac.5007G>T (p.Gly1669=)
c.3071G>T
c.4884G>T (p.Gly1628=)
c.5040G>T (p.Gly1680=)
12g.51806494A>CCA384882367SCN8Ac.5008A>C (p.Met1670Leu)
c.3072A>C
c.4885A>C (p.Met1629Leu)
c.5041A>C (p.Met1681Leu)
12g.51806494A>GCA384882371SCN8Ac.5008A>G (p.Met1670Val)
c.3072A>G
c.4885A>G (p.Met1629Val)
c.5041A>G (p.Met1681Val)
12g.51806494A>TCA384882373SCN8Ac.5008A>T (p.Met1670Leu)
c.3072A>T
c.4885A>T (p.Met1629Leu)
c.5041A>T (p.Met1681Leu)
12g.51806495T>ACA384882375SCN8Ac.5009T>A (p.Met1670Lys)
c.3073T>A
c.4886T>A (p.Met1629Lys)
c.5042T>A (p.Met1681Lys)
12g.51806495T>CCA384882376SCN8Ac.5009T>C (p.Met1670Thr)
c.3073T>C
c.4886T>C (p.Met1629Thr)
c.5042T>C (p.Met1681Thr)
12g.51806495T>GCA384882377SCN8Ac.5009T>G (p.Met1670Arg)
c.3073T>G
c.4886T>G (p.Met1629Arg)
c.5042T>G (p.Met1681Arg)
12g.51806496G>ACA384882382SCN8Ac.5010G>A (p.Met1670Ile)
c.3074G>A
c.4887G>A (p.Met1629Ile)
c.5043G>A (p.Met1681Ile)
12g.51806496G>CCA384882385SCN8Ac.5010G>C (p.Met1670Ile)
c.3074G>C
c.4887G>C (p.Met1629Ile)
c.5043G>C (p.Met1681Ile)
12g.51806496G>TCA384882389SCN8Ac.5010G>T (p.Met1670Ile)
c.3074G>T
c.4887G>T (p.Met1629Ile)
c.5043G>T (p.Met1681Ile)
12g.51806497T>ACA384882401SCN8Ac.5011T>A (p.Ser1671Thr)
c.3075T>A
c.4888T>A (p.Ser1630Thr)
c.5044T>A (p.Ser1682Thr)
12g.51806497T>CCA384882404SCN8Ac.5011T>C (p.Ser1671Pro)
c.3075T>C
c.4888T>C (p.Ser1630Pro)
c.5044T>C (p.Ser1682Pro)
12g.51806497T>GCA384882405SCN8Ac.5011T>G (p.Ser1671Ala)
c.3075T>G
c.4888T>G (p.Ser1630Ala)
c.5044T>G (p.Ser1682Ala)
12g.51806498C>ACA384882414SCN8Ac.5012C>A (p.Ser1671Tyr)
c.3076C>A
c.4889C>A (p.Ser1630Tyr)
c.5045C>A (p.Ser1682Tyr)
12g.51806498C>GCA384882406SCN8Ac.5012C>G (p.Ser1671Cys)
c.3076C>G
c.4889C>G (p.Ser1630Cys)
c.5045C>G (p.Ser1682Cys)
12g.51806498C>TCA384882411SCN8Ac.5012C>T (p.Ser1671Phe)
c.3076C>T
c.4889C>T (p.Ser1630Phe)
c.5045C>T (p.Ser1682Phe)
12g.51806499C>ACA480061798SCN8Ac.5013C>A (p.Ser1671=)
c.3077C>A
c.4890C>A (p.Ser1630=)
c.5046C>A (p.Ser1682=)
12g.51806499C>GCA480061799SCN8Ac.5013C>G (p.Ser1671=)
c.3077C>G
c.4890C>G (p.Ser1630=)
c.5046C>G (p.Ser1682=)
12g.51806499C>TCA480061800SCN8Ac.5013C>T (p.Ser1671=)
c.3077C>T
c.4890C>T (p.Ser1630=)
c.5046C>T (p.Ser1682=)
 ClinVar gnomAD v4
12g.51806500A>CCA384882418SCN8Ac.5014A>C (p.Asn1672His)
c.3078A>C
c.4891A>C (p.Asn1631His)
c.5047A>C (p.Asn1683His)
12g.51806500A>GCA384882421SCN8Ac.5014A>G (p.Asn1672Asp)
c.3078A>G
c.4891A>G (p.Asn1631Asp)
c.5047A>G (p.Asn1683Asp)
12g.51806500A>TCA384882422SCN8Ac.5014A>T (p.Asn1672Tyr)
c.3078A>T
c.4891A>T (p.Asn1631Tyr)
c.5047A>T (p.Asn1683Tyr)
12g.51806501A=CA2036193190SCN8Ac.5015A= (p.Asn1672=)
c.3079A=
c.4892A= (p.Asn1631=)
c.5048A= (p.Asn1683=)
12g.51806501A>CCA384882427SCN8Ac.5015A>C (p.Asn1672Thr)
c.3079A>C
c.4892A>C (p.Asn1631Thr)
c.5048A>C (p.Asn1683Thr)
12g.51806501A>GCA384882430SCN8Ac.5015A>G (p.Asn1672Ser)
c.3079A>G
c.4892A>G (p.Asn1631Ser)
c.5048A>G (p.Asn1683Ser)
 ClinVar dbSNP gnomAD v4
12g.51806501A>TCA384882432SCN8Ac.5015A>T (p.Asn1672Ile)
c.3079A>T
c.4892A>T (p.Asn1631Ile)
c.5048A>T (p.Asn1683Ile)
12g.51806502T>ACA384882435SCN8Ac.5016T>A (p.Asn1672Lys)
c.3080T>A
c.4893T>A (p.Asn1631Lys)
c.5049T>A (p.Asn1683Lys)
12g.51806502T>CCA480061802SCN8Ac.5016T>C (p.Asn1672=)
c.3080T>C
c.4893T>C (p.Asn1631=)
c.5049T>C (p.Asn1683=)
12g.51806502T>GCA384882437SCN8Ac.5016T>G (p.Asn1672Lys)
c.3080T>G
c.4893T>G (p.Asn1631Lys)
c.5049T>G (p.Asn1683Lys)
12g.51806503T>ACA384882441SCN8Ac.5017T>A (p.Phe1673Ile)
c.3081T>A
c.4894T>A (p.Phe1632Ile)
c.5050T>A (p.Phe1684Ile)
12g.51806503T>CCA384882444SCN8Ac.5017T>C (p.Phe1673Leu)
c.3081T>C
c.4894T>C (p.Phe1632Leu)
c.5050T>C (p.Phe1684Leu)
12g.51806503T>GCA384882446SCN8Ac.5017T>G (p.Phe1673Val)
c.3081T>G
c.4894T>G (p.Phe1632Val)
c.5050T>G (p.Phe1684Val)
12g.51806504T>ACA384882455SCN8Ac.5018T>A (p.Phe1673Tyr)
c.3082T>A
c.4895T>A (p.Phe1632Tyr)
c.5051T>A (p.Phe1684Tyr)
12g.51806504T>CCA384882454SCN8Ac.5018T>C (p.Phe1673Ser)
c.3082T>C
c.4895T>C (p.Phe1632Ser)
c.5051T>C (p.Phe1684Ser)
12g.51806504T>GCA384882450SCN8Ac.5018T>G (p.Phe1673Cys)
c.3082T>G
c.4895T>G (p.Phe1632Cys)
c.5051T>G (p.Phe1684Cys)
 gnomAD v4
12g.51806505T>ACA384882458SCN8Ac.5019T>A (p.Phe1673Leu)
c.3083T>A
c.4896T>A (p.Phe1632Leu)
c.5052T>A (p.Phe1684Leu)
12g.51806505T>CCA480061803SCN8Ac.5019T>C (p.Phe1673=)
c.3083T>C
c.4896T>C (p.Phe1632=)
c.5052T>C (p.Phe1684=)
12g.51806505T>GCA384882461SCN8Ac.5019T>G (p.Phe1673Leu)
c.3083T>G
c.4896T>G (p.Phe1632Leu)
c.5052T>G (p.Phe1684Leu)
12g.51806506G>ACA384882468SCN8Ac.5020G>A (p.Ala1674Thr)
c.3084G>A
c.4897G>A (p.Ala1633Thr)
c.5053G>A (p.Ala1685Thr)
 gnomAD v4
12g.51806506G>CCA384882473SCN8Ac.5020G>C (p.Ala1674Pro)
c.3084G>C
c.4897G>C (p.Ala1633Pro)
c.5053G>C (p.Ala1685Pro)
12g.51806506G>TCA384882471SCN8Ac.5020G>T (p.Ala1674Ser)
c.3084G>T
c.4897G>T (p.Ala1633Ser)
c.5053G>T (p.Ala1685Ser)
12g.51806507C>ACA384882479SCN8Ac.5021C>A (p.Ala1674Glu)
c.3085C>A
c.4898C>A (p.Ala1633Glu)
c.5054C>A (p.Ala1685Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.51806507C=CA2036193198SCN8Ac.5021C= (p.Ala1674=)
c.3085C=
c.4898C= (p.Ala1633=)
c.5054C= (p.Ala1685=)
12g.51806507C>GCA384882484SCN8Ac.5021C>G (p.Ala1674Gly)
c.3085C>G
c.4898C>G (p.Ala1633Gly)
c.5054C>G (p.Ala1685Gly)
12g.51806507C>TCA384882480SCN8Ac.5021C>T (p.Ala1674Val)
c.3085C>T
c.4898C>T (p.Ala1633Val)
c.5054C>T (p.Ala1685Val)
 gnomAD v4
12g.51806508A>CCA480061806SCN8Ac.5022A>C (p.Ala1674=)
c.3086A>C
c.4899A>C (p.Ala1633=)
c.5055A>C (p.Ala1685=)
12g.51806508A>GCA480061807SCN8Ac.5022A>G (p.Ala1674=)
c.3086A>G
c.4899A>G (p.Ala1633=)
c.5055A>G (p.Ala1685=)
12g.51806508A>TCA480061808SCN8Ac.5022A>T (p.Ala1674=)
c.3086A>T
c.4899A>T (p.Ala1633=)
c.5055A>T (p.Ala1685=)
12g.51806509T>ACA384882492SCN8Ac.5023T>A (p.Tyr1675Asn)
c.3087T>A
c.4900T>A (p.Tyr1634Asn)
c.5056T>A (p.Tyr1686Asn)
12g.51806509T>CCA384882493SCN8Ac.5023T>C (p.Tyr1675His)
c.3087T>C
c.4900T>C (p.Tyr1634His)
c.5056T>C (p.Tyr1686His)
12g.51806509T>GCA384882496SCN8Ac.5023T>G (p.Tyr1675Asp)
c.3087T>G
c.4900T>G (p.Tyr1634Asp)
c.5056T>G (p.Tyr1686Asp)
12g.51806510A>CCA384882498SCN8Ac.5024A>C (p.Tyr1675Ser)
c.3088A>C
c.4901A>C (p.Tyr1634Ser)
c.5057A>C (p.Tyr1686Ser)
12g.51806510A>GCA384882501SCN8Ac.5024A>G (p.Tyr1675Cys)
c.3088A>G
c.4901A>G (p.Tyr1634Cys)
c.5057A>G (p.Tyr1686Cys)
12g.51806510A>TCA384882504SCN8Ac.5024A>T (p.Tyr1675Phe)
c.3088A>T
c.4901A>T (p.Tyr1634Phe)
c.5057A>T (p.Tyr1686Phe)
12g.51806511T>ACA384882507SCN8Ac.5025T>A (p.Tyr1675Ter)
c.3089T>A
c.4902T>A (p.Tyr1634Ter)
c.5058T>A (p.Tyr1686Ter)
 ClinVar
12g.51806511T>CCA480061811SCN8Ac.5025T>C (p.Tyr1675=)
c.3089T>C
c.4902T>C (p.Tyr1634=)
c.5058T>C (p.Tyr1686=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806511T>GCA384882509SCN8Ac.5025T>G (p.Tyr1675Ter)
c.3089T>G
c.4902T>G (p.Tyr1634Ter)
c.5058T>G (p.Tyr1686Ter)
12g.51806511T=CA2036193201SCN8Ac.5025T= (p.Tyr1675=)
c.3089T=
c.4902T= (p.Tyr1634=)
c.5058T= (p.Tyr1686=)
12g.51806512G>ACA384882513SCN8Ac.5026G>A (p.Val1676Met)
c.3090G>A
c.4903G>A (p.Val1635Met)
c.5059G>A (p.Val1687Met)
 gnomAD v4
12g.51806512G>CCA384882516SCN8Ac.5026G>C (p.Val1676Leu)
c.3090G>C
c.4903G>C (p.Val1635Leu)
c.5059G>C (p.Val1687Leu)
12g.51806512G>TCA384882519SCN8Ac.5026G>T (p.Val1676Leu)
c.3090G>T
c.4903G>T (p.Val1635Leu)
c.5059G>T (p.Val1687Leu)
12g.51806513T>ACA384882524SCN8Ac.5027T>A (p.Val1676Glu)
c.3091T>A
c.4904T>A (p.Val1635Glu)
c.5060T>A (p.Val1687Glu)
12g.51806513T>CCA384882523SCN8Ac.5027T>C (p.Val1676Ala)
c.3091T>C
c.4904T>C (p.Val1635Ala)
c.5060T>C (p.Val1687Ala)
12g.51806513T>GCA384882522SCN8Ac.5027T>G (p.Val1676Gly)
c.3091T>G
c.4904T>G (p.Val1635Gly)
c.5060T>G (p.Val1687Gly)
12g.51806514G>ACA480061815SCN8Ac.5028G>A (p.Val1676=)
c.3092G>A
c.4905G>A (p.Val1635=)
c.5061G>A (p.Val1687=)
12g.51806514G>CCA480061816SCN8Ac.5028G>C (p.Val1676=)
c.3092G>C
c.4905G>C (p.Val1635=)
c.5061G>C (p.Val1687=)
12g.51806514G>TCA480061817SCN8Ac.5028G>T (p.Val1676=)
c.3092G>T
c.4905G>T (p.Val1635=)
c.5061G>T (p.Val1687=)
12g.51806515A=CA2036193205SCN8Ac.5029A= (p.Lys1677=)
c.3093A=
c.4906A= (p.Lys1636=)
c.5062A= (p.Lys1688=)
12g.51806515A>CCA384882526SCN8Ac.5029A>C (p.Lys1677Gln)
c.3093A>C
c.4906A>C (p.Lys1636Gln)
c.5062A>C (p.Lys1688Gln)
12g.51806515A>GCA384882527SCN8Ac.5029A>G (p.Lys1677Glu)
c.3093A>G
c.4906A>G (p.Lys1636Glu)
c.5062A>G (p.Lys1688Glu)
12g.51806515A>TCA384882530SCN8Ac.5029A>T (p.Lys1677Ter)
c.3093A>T
c.4906A>T (p.Lys1636Ter)
c.5062A>T (p.Lys1688Ter)
 dbSNP
12g.51806516A>CCA384882536SCN8Ac.5030A>C (p.Lys1677Thr)
c.3094A>C
c.4907A>C (p.Lys1636Thr)
c.5063A>C (p.Lys1688Thr)
12g.51806516A>GCA384882542SCN8Ac.5030A>G (p.Lys1677Arg)
c.3094A>G
c.4907A>G (p.Lys1636Arg)
c.5063A>G (p.Lys1688Arg)
12g.51806516A>TCA384882545SCN8Ac.5030A>T (p.Lys1677Met)
c.3094A>T
c.4907A>T (p.Lys1636Met)
c.5063A>T (p.Lys1688Met)
12g.51806517G>ACA480061819SCN8Ac.5031G>A (p.Lys1677=)
c.3095G>A
c.4908G>A (p.Lys1636=)
c.5064G>A (p.Lys1688=)
 COSMIC COSMIC
12g.51806517G>CCA384882548SCN8Ac.5031G>C (p.Lys1677Asn)
c.3095G>C
c.4908G>C (p.Lys1636Asn)
c.5064G>C (p.Lys1688Asn)
12g.51806517G>TCA384882551SCN8Ac.5031G>T (p.Lys1677Asn)
c.3095G>T
c.4908G>T (p.Lys1636Asn)
c.5064G>T (p.Lys1688Asn)
12g.51806518C>ACA384882555SCN8Ac.5032C>A (p.His1678Asn)
c.3096C>A
c.4909C>A (p.His1637Asn)
c.5065C>A (p.His1689Asn)
12g.51806518C>GCA384882556SCN8Ac.5032C>G (p.His1678Asp)
c.3096C>G
c.4909C>G (p.His1637Asp)
c.5065C>G (p.His1689Asp)
12g.51806518C>TCA384882559SCN8Ac.5032C>T (p.His1678Tyr)
c.3096C>T
c.4909C>T (p.His1637Tyr)
c.5065C>T (p.His1689Tyr)
12g.51806519A>CCA384882567SCN8Ac.5033A>C (p.His1678Pro)
c.3097A>C
c.4910A>C (p.His1637Pro)
c.5066A>C (p.His1689Pro)
12g.51806519A>GCA384882566SCN8Ac.5033A>G (p.His1678Arg)
c.3097A>G
c.4910A>G (p.His1637Arg)
c.5066A>G (p.His1689Arg)
12g.51806519A>TCA384882563SCN8Ac.5033A>T (p.His1678Leu)
c.3097A>T
c.4910A>T (p.His1637Leu)
c.5066A>T (p.His1689Leu)
12g.51806520C>ACA384882568SCN8Ac.5034C>A (p.His1678Gln)
c.3098C>A
c.4911C>A (p.His1637Gln)
c.5067C>A (p.His1689Gln)
 dbSNP gnomAD v4
12g.51806520C=CA2036193212SCN8Ac.5034C= (p.His1678=)
c.3098C=
c.4911C= (p.His1637=)
c.5067C= (p.His1689=)
12g.51806520C>GCA384882569SCN8Ac.5034C>G (p.His1678Gln)
c.3098C>G
c.4911C>G (p.His1637Gln)
c.5067C>G (p.His1689Gln)
12g.51806520C>TCA6571886SCN8Ac.5034C>T (p.His1678=)
c.3098C>T
c.4911C>T (p.His1637=)
c.5067C>T (p.His1689=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806521G>ACA318294SCN8Ac.5035G>A (p.Glu1679Lys)
c.3099G>A
c.4912G>A (p.Glu1638Lys)
c.5068G>A (p.Glu1690Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51806521G>CCA384882581SCN8Ac.5035G>C (p.Glu1679Gln)
c.3099G>C
c.4912G>C (p.Glu1638Gln)
c.5068G>C (p.Glu1690Gln)
 gnomAD v4
12g.51806521G=CA2036193221SCN8Ac.5035G= (p.Glu1679=)
c.3099G=
c.4912G= (p.Glu1638=)
c.5068G= (p.Glu1690=)
12g.51806521G>TCA384882585SCN8Ac.5035G>T (p.Glu1679Ter)
c.3099G>T
c.4912G>T (p.Glu1638Ter)
c.5068G>T (p.Glu1690Ter)
 dbSNP
12g.51806522A>CCA384882589SCN8Ac.5036A>C (p.Glu1679Ala)
c.3100A>C
c.4913A>C (p.Glu1638Ala)
c.5069A>C (p.Glu1690Ala)
12g.51806522A>GCA384882592SCN8Ac.5036A>G (p.Glu1679Gly)
c.3100A>G
c.4913A>G (p.Glu1638Gly)
c.5069A>G (p.Glu1690Gly)
12g.51806522A>TCA384882594SCN8Ac.5036A>T (p.Glu1679Val)
c.3100A>T
c.4913A>T (p.Glu1638Val)
c.5069A>T (p.Glu1690Val)
12g.51806523G>ACA480061828SCN8Ac.5037G>A (p.Glu1679=)
c.3101G>A
c.4914G>A (p.Glu1638=)
c.5070G>A (p.Glu1690=)
12g.51806523G>CCA384882599SCN8Ac.5037G>C (p.Glu1679Asp)
c.3101G>C
c.4914G>C (p.Glu1638Asp)
c.5070G>C (p.Glu1690Asp)
12g.51806523G>TCA384882602SCN8Ac.5037G>T (p.Glu1679Asp)
c.3101G>T
c.4914G>T (p.Glu1638Asp)
c.5070G>T (p.Glu1690Asp)
12g.51806524G>ACA384882627SCN8Ac.5038G>A (p.Ala1680Thr)
c.3102G>A
c.4915G>A (p.Ala1639Thr)
c.5071G>A (p.Ala1691Thr)
12g.51806524G>CCA384882607SCN8Ac.5038G>C (p.Ala1680Pro)
c.3102G>C
c.4915G>C (p.Ala1639Pro)
c.5071G>C (p.Ala1691Pro)
12g.51806524G>TCA384882605SCN8Ac.5038G>T (p.Ala1680Ser)
c.3102G>T
c.4915G>T (p.Ala1639Ser)
c.5071G>T (p.Ala1691Ser)
12g.51806525C>ACA384882631SCN8Ac.5039C>A (p.Ala1680Asp)
c.3103C>A
c.4916C>A (p.Ala1639Asp)
c.5072C>A (p.Ala1691Asp)
12g.51806525C>GCA384882634SCN8Ac.5039C>G (p.Ala1680Gly)
c.3103C>G
c.4916C>G (p.Ala1639Gly)
c.5072C>G (p.Ala1691Gly)
12g.51806525C>TCA384882637SCN8Ac.5039C>T (p.Ala1680Val)
c.3103C>T
c.4916C>T (p.Ala1639Val)
c.5072C>T (p.Ala1691Val)
12g.51806526T>ACA480061833SCN8Ac.5040T>A (p.Ala1680=)
c.3104T>A
c.4917T>A (p.Ala1639=)
c.5073T>A (p.Ala1691=)
12g.51806526T>CCA480061832SCN8Ac.5040T>C (p.Ala1680=)
c.3104T>C
c.4917T>C (p.Ala1639=)
c.5073T>C (p.Ala1691=)
12g.51806526T>GCA480061831SCN8Ac.5040T>G (p.Ala1680=)
c.3104T>G
c.4917T>G (p.Ala1639=)
c.5073T>G (p.Ala1691=)
12g.51806527G>ACA384882641SCN8Ac.5041G>A (p.Gly1681Ser)
c.3105G>A
c.4918G>A (p.Gly1640Ser)
c.5074G>A (p.Gly1692Ser)
12g.51806527G>CCA384882643SCN8Ac.5041G>C (p.Gly1681Arg)
c.3105G>C
c.4918G>C (p.Gly1640Arg)
c.5074G>C (p.Gly1692Arg)
12g.51806527G>TCA384882645SCN8Ac.5041G>T (p.Gly1681Cys)
c.3105G>T
c.4918G>T (p.Gly1640Cys)
c.5074G>T (p.Gly1692Cys)
12g.51806528G>ACA384882649SCN8Ac.5042G>A (p.Gly1681Asp)
c.3106G>A
c.4919G>A (p.Gly1640Asp)
c.5075G>A (p.Gly1692Asp)
12g.51806528G>CCA384882650SCN8Ac.5042G>C (p.Gly1681Ala)
c.3106G>C
c.4919G>C (p.Gly1640Ala)
c.5075G>C (p.Gly1692Ala)
12g.51806528G>TCA384882652SCN8Ac.5042G>T (p.Gly1681Val)
c.3106G>T
c.4919G>T (p.Gly1640Val)
c.5075G>T (p.Gly1692Val)
12g.51806529T>ACA480061835SCN8Ac.5043T>A (p.Gly1681=)
c.3107T>A
c.4920T>A (p.Gly1640=)
c.5076T>A (p.Gly1692=)
12g.51806529T>CCA480061836SCN8Ac.5043T>C (p.Gly1681=)
c.3107T>C
c.4920T>C (p.Gly1640=)
c.5076T>C (p.Gly1692=)
12g.51806529T>GCA480061838SCN8Ac.5043T>G (p.Gly1681=)
c.3107T>G
c.4920T>G (p.Gly1640=)
c.5076T>G (p.Gly1692=)
12g.51806530A>CCA384882655SCN8Ac.5044A>C (p.Ile1682Leu)
c.3108A>C
c.4921A>C (p.Ile1641Leu)
c.5077A>C (p.Ile1693Leu)
12g.51806530A>GCA384882656SCN8Ac.5044A>G (p.Ile1682Val)
c.3108A>G
c.4921A>G (p.Ile1641Val)
c.5077A>G (p.Ile1693Val)
12g.51806530A>TCA384882660SCN8Ac.5044A>T (p.Ile1682Phe)
c.3108A>T
c.4921A>T (p.Ile1641Phe)
c.5077A>T (p.Ile1693Phe)
12g.51806531T>ACA384882666SCN8Ac.5045T>A (p.Ile1682Asn)
c.3109T>A
c.4922T>A (p.Ile1641Asn)
c.5078T>A (p.Ile1693Asn)
12g.51806531T>CCA384882665SCN8Ac.5045T>C (p.Ile1682Thr)
c.3109T>C
c.4922T>C (p.Ile1641Thr)
c.5078T>C (p.Ile1693Thr)
12g.51806531T>GCA384882663SCN8Ac.5045T>G (p.Ile1682Ser)
c.3109T>G
c.4922T>G (p.Ile1641Ser)
c.5078T>G (p.Ile1693Ser)
12g.51806532C>ACA480061840SCN8Ac.5046C>A (p.Ile1682=)
c.3110C>A
c.4923C>A (p.Ile1641=)
c.5079C>A (p.Ile1693=)
12g.51806532C=CA2036193228SCN8Ac.5046C= (p.Ile1682=)
c.3110C=
c.4923C= (p.Ile1641=)
c.5079C= (p.Ile1693=)
12g.51806532C>GCA384882670SCN8Ac.5046C>G (p.Ile1682Met)
c.3110C>G
c.4923C>G (p.Ile1641Met)
c.5079C>G (p.Ile1693Met)
 gnomAD v4
12g.51806532C>TCA6571887SCN8Ac.5046C>T (p.Ile1682=)
c.3110C>T
c.4923C>T (p.Ile1641=)
c.5079C>T (p.Ile1693=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806533G>ACA236327446SCN8Ac.5047G>A (p.Asp1683Asn)
c.3111G>A
c.4924G>A (p.Asp1642Asn)
c.5080G>A (p.Asp1694Asn)
 ClinVar dbSNP gnomAD v4
12g.51806533G>CCA384882673SCN8Ac.5047G>C (p.Asp1683His)
c.3111G>C
c.4924G>C (p.Asp1642His)
c.5080G>C (p.Asp1694His)
12g.51806533G=CA2036193236SCN8Ac.5047G= (p.Asp1683=)
c.3111G=
c.4924G= (p.Asp1642=)
c.5080G= (p.Asp1694=)
12g.51806533G>TCA384882676SCN8Ac.5047G>T (p.Asp1683Tyr)
c.3111G>T
c.4924G>T (p.Asp1642Tyr)
c.5080G>T (p.Asp1694Tyr)

Number of alleles fetched