Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806377A>CCA384880449SCN8Ac.4891A>C (p.Ile1631Leu)
c.2955A>C
c.4768A>C (p.Ile1590Leu)
c.4924A>C (p.Ile1642Leu)
12g.51806377A>GCA384880450SCN8Ac.4891A>G (p.Ile1631Val)
c.2955A>G
c.4768A>G (p.Ile1590Val)
c.4924A>G (p.Ile1642Val)
12g.51806377A>TCA384880451SCN8Ac.4891A>T (p.Ile1631Phe)
c.2955A>T
c.4768A>T (p.Ile1590Phe)
c.4924A>T (p.Ile1642Phe)
12g.51806378T>ACA384880452SCN8Ac.4892T>A (p.Ile1631Asn)
c.2956T>A
c.4769T>A (p.Ile1590Asn)
c.4925T>A (p.Ile1642Asn)
 ClinVar dbSNP
12g.51806378T>CCA384880453SCN8Ac.4892T>C (p.Ile1631Thr)
c.2956T>C
c.4769T>C (p.Ile1590Thr)
c.4925T>C (p.Ile1642Thr)
 ClinVar dbSNP
12g.51806378T>GCA384880454SCN8Ac.4892T>G (p.Ile1631Ser)
c.2956T>G
c.4769T>G (p.Ile1590Ser)
c.4925T>G (p.Ile1642Ser)
12g.51806378T=CA2036192947SCN8Ac.4892T= (p.Ile1631=)
c.2956T=
c.4769T= (p.Ile1590=)
c.4925T= (p.Ile1642=)
12g.51806379C>ACA479788112SCN8Ac.4893C>A (p.Ile1631=)
c.2957C>A
c.4770C>A (p.Ile1590=)
c.4926C>A (p.Ile1642=)
12g.51806379C>GCA384880455SCN8Ac.4893C>G (p.Ile1631Met)
c.2957C>G
c.4770C>G (p.Ile1590Met)
c.4926C>G (p.Ile1642Met)
 COSMIC COSMIC
12g.51806379C>TCA479788111SCN8Ac.4893C>T (p.Ile1631=)
c.2957C>T
c.4770C>T (p.Ile1590=)
c.4926C>T (p.Ile1642=)
 gnomAD v4
12g.51806380A=CA2036192963SCN8Ac.4894A= (p.Lys1632=)
c.2958A=
c.4771A= (p.Lys1591=)
c.4927A= (p.Lys1643=)
12g.51806380A>CCA384880456SCN8Ac.4894A>C (p.Lys1632Gln)
c.2958A>C
c.4771A>C (p.Lys1591Gln)
c.4927A>C (p.Lys1643Gln)
12g.51806380A>GCA384880457SCN8Ac.4894A>G (p.Lys1632Glu)
c.2958A>G
c.4771A>G (p.Lys1591Glu)
c.4927A>G (p.Lys1643Glu)
12g.51806380A>TCA384880458SCN8Ac.4894A>T (p.Lys1632Ter)
c.2958A>T
c.4771A>T (p.Lys1591Ter)
c.4927A>T (p.Lys1643Ter)
 dbSNP
12g.51806381A>CCA384880460SCN8Ac.4895A>C (p.Lys1632Thr)
c.2959A>C
c.4772A>C (p.Lys1591Thr)
c.4928A>C (p.Lys1643Thr)
12g.51806381A>GCA384880461SCN8Ac.4895A>G (p.Lys1632Arg)
c.2959A>G
c.4772A>G (p.Lys1591Arg)
c.4928A>G (p.Lys1643Arg)
 gnomAD v4
12g.51806381A>TCA384880459SCN8Ac.4895A>T (p.Lys1632Ile)
c.2959A>T
c.4772A>T (p.Lys1591Ile)
c.4928A>T (p.Lys1643Ile)
12g.51806382A>CCA384880462SCN8Ac.4896A>C (p.Lys1632Asn)
c.2960A>C
c.4773A>C (p.Lys1591Asn)
c.4929A>C (p.Lys1643Asn)
12g.51806382A>GCA479788114SCN8Ac.4896A>G (p.Lys1632=)
c.2960A>G
c.4773A>G (p.Lys1591=)
c.4929A>G (p.Lys1643=)
12g.51806382A>TCA384880463SCN8Ac.4896A>T (p.Lys1632Asn)
c.2960A>T
c.4773A>T (p.Lys1591Asn)
c.4929A>T (p.Lys1643Asn)
 ClinVar
12g.51806383G>ACA384880464SCN8Ac.4897G>A (p.Gly1633Ser)
c.2961G>A
c.4774G>A (p.Gly1592Ser)
c.4930G>A (p.Gly1644Ser)
12g.51806383G>CCA384880465SCN8Ac.4897G>C (p.Gly1633Arg)
c.2961G>C
c.4774G>C (p.Gly1592Arg)
c.4930G>C (p.Gly1644Arg)
12g.51806383G>TCA384880466SCN8Ac.4897G>T (p.Gly1633Cys)
c.2961G>T
c.4774G>T (p.Gly1592Cys)
c.4930G>T (p.Gly1644Cys)
12g.51806384G>ACA384880467SCN8Ac.4898G>A (p.Gly1633Asp)
c.2962G>A
c.4775G>A (p.Gly1592Asp)
c.4931G>A (p.Gly1644Asp)
12g.51806384G>CCA384880468SCN8Ac.4898G>C (p.Gly1633Ala)
c.2962G>C
c.4775G>C (p.Gly1592Ala)
c.4931G>C (p.Gly1644Ala)
12g.51806384G>TCA384880469SCN8Ac.4898G>T (p.Gly1633Val)
c.2962G>T
c.4775G>T (p.Gly1592Val)
c.4931G>T (p.Gly1644Val)
12g.51806385C>ACA479788119SCN8Ac.4899C>A (p.Gly1633=)
c.2963C>A
c.4776C>A (p.Gly1592=)
c.4932C>A (p.Gly1644=)
12g.51806385C=CA2036192980SCN8Ac.4899C= (p.Gly1633=)
c.2963C=
c.4776C= (p.Gly1592=)
c.4932C= (p.Gly1644=)
12g.51806385C>GCA479788121SCN8Ac.4899C>G (p.Gly1633=)
c.2963C>G
c.4776C>G (p.Gly1592=)
c.4932C>G (p.Gly1644=)
12g.51806385C>TCA6571879SCN8Ac.4899C>T (p.Gly1633=)
c.2963C>T
c.4776C>T (p.Gly1592=)
c.4932C>T (p.Gly1644=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806386G>ACA236327392SCN8Ac.4900G>A (p.Ala1634Thr)
c.2964G>A
c.4777G>A (p.Ala1593Thr)
c.4933G>A (p.Ala1645Thr)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51806386G>CCA384880470SCN8Ac.4900G>C (p.Ala1634Pro)
c.2964G>C
c.4777G>C (p.Ala1593Pro)
c.4933G>C (p.Ala1645Pro)
12g.51806386G=CA2036192988SCN8Ac.4900G= (p.Ala1634=)
c.2964G=
c.4777G= (p.Ala1593=)
c.4933G= (p.Ala1645=)
12g.51806386G>TCA384880471SCN8Ac.4900G>T (p.Ala1634Ser)
c.2964G>T
c.4777G>T (p.Ala1593Ser)
c.4933G>T (p.Ala1645Ser)
12g.51806387C>ACA384880473SCN8Ac.4901C>A (p.Ala1634Asp)
c.2965C>A
c.4778C>A (p.Ala1593Asp)
c.4934C>A (p.Ala1645Asp)
12g.51806387C>GCA384880474SCN8Ac.4901C>G (p.Ala1634Gly)
c.2965C>G
c.4778C>G (p.Ala1593Gly)
c.4934C>G (p.Ala1645Gly)
12g.51806387C>TCA384880472SCN8Ac.4901C>T (p.Ala1634Val)
c.2965C>T
c.4778C>T (p.Ala1593Val)
c.4934C>T (p.Ala1645Val)
 COSMIC COSMIC
12g.51806388delCA2512898859SCN8Ac.4902del (p.Ile1637PhefsTer8)
c.2966del
c.4779del (p.Ile1596PhefsTer8)
c.4935del (p.Ile1648PhefsTer8)
12g.51806388C>ACA479788122SCN8Ac.4902C>A (p.Ala1634=)
c.2966C>A
c.4779C>A (p.Ala1593=)
c.4935C>A (p.Ala1645=)
12g.51806388C>GCA479788123SCN8Ac.4902C>G (p.Ala1634=)
c.2966C>G
c.4779C>G (p.Ala1593=)
c.4935C>G (p.Ala1645=)
12g.51806388C>TCA479788124SCN8Ac.4902C>T (p.Ala1634=)
c.2966C>T
c.4779C>T (p.Ala1593=)
c.4935C>T (p.Ala1645=)
12g.51806389A=CA2036192993SCN8Ac.4903A= (p.Lys1635=)
c.2967A=
c.4780A= (p.Lys1594=)
c.4936A= (p.Lys1646=)
12g.51806389A>CCA384880475SCN8Ac.4903A>C (p.Lys1635Gln)
c.2967A>C
c.4780A>C (p.Lys1594Gln)
c.4936A>C (p.Lys1646Gln)
12g.51806389A>GCA384880476SCN8Ac.4903A>G (p.Lys1635Glu)
c.2967A>G
c.4780A>G (p.Lys1594Glu)
c.4936A>G (p.Lys1646Glu)
12g.51806389A>TCA384880477SCN8Ac.4903A>T (p.Lys1635Ter)
c.2967A>T
c.4780A>T (p.Lys1594Ter)
c.4936A>T (p.Lys1646Ter)
 dbSNP
12g.51806390A>CCA384880478SCN8Ac.4904A>C (p.Lys1635Thr)
c.2968A>C
c.4781A>C (p.Lys1594Thr)
c.4937A>C (p.Lys1646Thr)
12g.51806390A>GCA384880479SCN8Ac.4904A>G (p.Lys1635Arg)
c.2968A>G
c.4781A>G (p.Lys1594Arg)
c.4937A>G (p.Lys1646Arg)
12g.51806390A>TCA384880480SCN8Ac.4904A>T (p.Lys1635Ile)
c.2968A>T
c.4781A>T (p.Lys1594Ile)
c.4937A>T (p.Lys1646Ile)
12g.51806391A>CCA384880482SCN8Ac.4905A>C (p.Lys1635Asn)
c.2969A>C
c.4782A>C (p.Lys1594Asn)
c.4938A>C (p.Lys1646Asn)
12g.51806391A>GCA479788127SCN8Ac.4905A>G (p.Lys1635=)
c.2969A>G
c.4782A>G (p.Lys1594=)
c.4938A>G (p.Lys1646=)
12g.51806391A>TCA384880481SCN8Ac.4905A>T (p.Lys1635Asn)
c.2969A>T
c.4782A>T (p.Lys1594Asn)
c.4938A>T (p.Lys1646Asn)
12g.51806392G>ACA384880483SCN8Ac.4906G>A (p.Gly1636Arg)
c.2970G>A
c.4783G>A (p.Gly1595Arg)
c.4939G>A (p.Gly1647Arg)
12g.51806392G>CCA384880484SCN8Ac.4906G>C (p.Gly1636Arg)
c.2970G>C
c.4783G>C (p.Gly1595Arg)
c.4939G>C (p.Gly1647Arg)
12g.51806392G>TCA384880485SCN8Ac.4906G>T (p.Gly1636Trp)
c.2970G>T
c.4783G>T (p.Gly1595Trp)
c.4939G>T (p.Gly1647Trp)
12g.51806393G>ACA384880486SCN8Ac.4907G>A (p.Gly1636Glu)
c.2971G>A
c.4784G>A (p.Gly1595Glu)
c.4940G>A (p.Gly1647Glu)
12g.51806393G>CCA384880487SCN8Ac.4907G>C (p.Gly1636Ala)
c.2971G>C
c.4784G>C (p.Gly1595Ala)
c.4940G>C (p.Gly1647Ala)
12g.51806393G>TCA384880488SCN8Ac.4907G>T (p.Gly1636Val)
c.2971G>T
c.4784G>T (p.Gly1595Val)
c.4940G>T (p.Gly1647Val)
12g.51806394G>ACA479788130SCN8Ac.4908G>A (p.Gly1636=)
c.2972G>A
c.4785G>A (p.Gly1595=)
c.4941G>A (p.Gly1647=)
12g.51806394G>CCA479788131SCN8Ac.4908G>C (p.Gly1636=)
c.2972G>C
c.4785G>C (p.Gly1595=)
c.4941G>C (p.Gly1647=)
12g.51806394G>TCA479788132SCN8Ac.4908G>T (p.Gly1636=)
c.2972G>T
c.4785G>T (p.Gly1595=)
c.4941G>T (p.Gly1647=)
 gnomAD v4
12g.51806395A>CCA384880489SCN8Ac.4909A>C (p.Ile1637Leu)
c.2973A>C
c.4786A>C (p.Ile1596Leu)
c.4942A>C (p.Ile1648Leu)
12g.51806395A>GCA384880491SCN8Ac.4909A>G (p.Ile1637Val)
c.2973A>G
c.4786A>G (p.Ile1596Val)
c.4942A>G (p.Ile1648Val)
12g.51806395A>TCA384880490SCN8Ac.4909A>T (p.Ile1637Phe)
c.2973A>T
c.4786A>T (p.Ile1596Phe)
c.4942A>T (p.Ile1648Phe)
12g.51806395dupCA2540407650SCN8Ac.4909dup (p.Ile1637AsnfsTer?)
c.2973dup
c.4786dup (p.Ile1596AsnfsTer?)
c.4942dup (p.Ile1648AsnfsTer?)
12g.51806396T>ACA384880492SCN8Ac.4910T>A (p.Ile1637Asn)
c.2974T>A
c.4787T>A (p.Ile1596Asn)
c.4943T>A (p.Ile1648Asn)
12g.51806396T>CCA384880494SCN8Ac.4910T>C (p.Ile1637Thr)
c.2974T>C
c.4787T>C (p.Ile1596Thr)
c.4943T>C (p.Ile1648Thr)
12g.51806396T>GCA384880493SCN8Ac.4910T>G (p.Ile1637Ser)
c.2974T>G
c.4787T>G (p.Ile1596Ser)
c.4943T>G (p.Ile1648Ser)
12g.51806397T>ACA479788140SCN8Ac.4911T>A (p.Ile1637=)
c.2975T>A
c.4788T>A (p.Ile1596=)
c.4944T>A (p.Ile1648=)
12g.51806397T>CCA479788139SCN8Ac.4911T>C (p.Ile1637=)
c.2975T>C
c.4788T>C (p.Ile1596=)
c.4944T>C (p.Ile1648=)
12g.51806397T>GCA384880496SCN8Ac.4911T>G (p.Ile1637Met)
c.2975T>G
c.4788T>G (p.Ile1596Met)
c.4944T>G (p.Ile1648Met)
 ClinVar dbSNP
12g.51806398C>ACA384880500SCN8Ac.4912C>A (p.Arg1638Ser)
c.2976C>A
c.4789C>A (p.Arg1597Ser)
c.4945C>A (p.Arg1649Ser)
12g.51806398C=CA2036193000SCN8Ac.4912C= (p.Arg1638=)
c.2976C=
c.4789C= (p.Arg1597=)
c.4945C= (p.Arg1649=)
12g.51806398C>GCA384880499SCN8Ac.4912C>G (p.Arg1638Gly)
c.2976C>G
c.4789C>G (p.Arg1597Gly)
c.4945C>G (p.Arg1649Gly)
12g.51806398C>TCA384880501SCN8Ac.4912C>T (p.Arg1638Cys)
c.2976C>T
c.4789C>T (p.Arg1597Cys)
c.4945C>T (p.Arg1649Cys)
 ClinVar dbSNP
12g.51806399G>ACA16619564SCN8Ac.4913G>A (p.Arg1638His)
c.2977G>A
c.4790G>A (p.Arg1597His)
c.4946G>A (p.Arg1649His)
 ClinVar dbSNP
12g.51806399G>CCA384880502SCN8Ac.4913G>C (p.Arg1638Pro)
c.2977G>C
c.4790G>C (p.Arg1597Pro)
c.4946G>C (p.Arg1649Pro)
12g.51806399G=CA2036193011SCN8Ac.4913G= (p.Arg1638=)
c.2977G=
c.4790G= (p.Arg1597=)
c.4946G= (p.Arg1649=)
12g.51806399G>TCA384880503SCN8Ac.4913G>T (p.Arg1638Leu)
c.2977G>T
c.4790G>T (p.Arg1597Leu)
c.4946G>T (p.Arg1649Leu)
12g.51806400T>ACA479788144SCN8Ac.4914T>A (p.Arg1638=)
c.2978T>A
c.4791T>A (p.Arg1597=)
c.4947T>A (p.Arg1649=)
12g.51806400T>CCA479788145SCN8Ac.4914T>C (p.Arg1638=)
c.2978T>C
c.4791T>C (p.Arg1597=)
c.4947T>C (p.Arg1649=)
12g.51806400T>GCA479788146SCN8Ac.4914T>G (p.Arg1638=)
c.2978T>G
c.4791T>G (p.Arg1597=)
c.4947T>G (p.Arg1649=)
12g.51806401A>CCA384880504SCN8Ac.4915A>C (p.Thr1639Pro)
c.2979A>C
c.4792A>C (p.Thr1598Pro)
c.4948A>C (p.Thr1650Pro)
12g.51806401A>GCA384880505SCN8Ac.4915A>G (p.Thr1639Ala)
c.2979A>G
c.4792A>G (p.Thr1598Ala)
c.4948A>G (p.Thr1650Ala)
12g.51806401A>TCA384880506SCN8Ac.4915A>T (p.Thr1639Ser)
c.2979A>T
c.4792A>T (p.Thr1598Ser)
c.4948A>T (p.Thr1650Ser)
12g.51806402C>ACA384880507SCN8Ac.4916C>A (p.Thr1639Asn)
c.2980C>A
c.4793C>A (p.Thr1598Asn)
c.4949C>A (p.Thr1650Asn)
12g.51806402C>GCA384880508SCN8Ac.4916C>G (p.Thr1639Ser)
c.2980C>G
c.4793C>G (p.Thr1598Ser)
c.4949C>G (p.Thr1650Ser)
 ClinVar
12g.51806402C>TCA384880509SCN8Ac.4916C>T (p.Thr1639Ile)
c.2980C>T
c.4793C>T (p.Thr1598Ile)
c.4949C>T (p.Thr1650Ile)
 ClinVar dbSNP
12g.51806403C>ACA479788151SCN8Ac.4917C>A (p.Thr1639=)
c.2981C>A
c.4794C>A (p.Thr1598=)
c.4950C>A (p.Thr1650=)
12g.51806403C>GCA479788149SCN8Ac.4917C>G (p.Thr1639=)
c.2981C>G
c.4794C>G (p.Thr1598=)
c.4950C>G (p.Thr1650=)
12g.51806403C>TCA479788150SCN8Ac.4917C>T (p.Thr1639=)
c.2981C>T
c.4794C>T (p.Thr1598=)
c.4950C>T (p.Thr1650=)
12g.51806404C>ACA384880510SCN8Ac.4918C>A (p.Leu1640Met)
c.2982C>A
c.4795C>A (p.Leu1599Met)
c.4951C>A (p.Leu1651Met)
12g.51806404C>GCA384880511SCN8Ac.4918C>G (p.Leu1640Val)
c.2982C>G
c.4795C>G (p.Leu1599Val)
c.4951C>G (p.Leu1651Val)
12g.51806404C>TCA479788152SCN8Ac.4918C>T (p.Leu1640=)
c.2982C>T
c.4795C>T (p.Leu1599=)
c.4951C>T (p.Leu1651=)
12g.51806405T>ACA384880514SCN8Ac.4919T>A (p.Leu1640Gln)
c.2983T>A
c.4796T>A (p.Leu1599Gln)
c.4952T>A (p.Leu1651Gln)
12g.51806405T>CCA384880513SCN8Ac.4919T>C (p.Leu1640Pro)
c.2983T>C
c.4796T>C (p.Leu1599Pro)
c.4952T>C (p.Leu1651Pro)
12g.51806405T>GCA384880512SCN8Ac.4919T>G (p.Leu1640Arg)
c.2983T>G
c.4796T>G (p.Leu1599Arg)
c.4952T>G (p.Leu1651Arg)
12g.51806406G>ACA479788156SCN8Ac.4920G>A (p.Leu1640=)
c.2984G>A
c.4797G>A (p.Leu1599=)
c.4953G>A (p.Leu1651=)
12g.51806406G>CCA479788157SCN8Ac.4920G>C (p.Leu1640=)
c.2984G>C
c.4797G>C (p.Leu1599=)
c.4953G>C (p.Leu1651=)
12g.51806406G>TCA479788158SCN8Ac.4920G>T (p.Leu1640=)
c.2984G>T
c.4797G>T (p.Leu1599=)
c.4953G>T (p.Leu1651=)
12g.51806407C>ACA384880515SCN8Ac.4921C>A (p.Leu1641Ile)
c.2985C>A
c.4798C>A (p.Leu1600Ile)
c.4954C>A (p.Leu1652Ile)
12g.51806407C>GCA384880516SCN8Ac.4921C>G (p.Leu1641Val)
c.2985C>G
c.4798C>G (p.Leu1600Val)
c.4954C>G (p.Leu1652Val)
12g.51806407C>TCA384880517SCN8Ac.4921C>T (p.Leu1641Phe)
c.2985C>T
c.4798C>T (p.Leu1600Phe)
c.4954C>T (p.Leu1652Phe)
12g.51806408T>ACA384880518SCN8Ac.4922T>A (p.Leu1641His)
c.2986T>A
c.4799T>A (p.Leu1600His)
c.4955T>A (p.Leu1652His)
12g.51806408T>CCA384880519SCN8Ac.4922T>C (p.Leu1641Pro)
c.2986T>C
c.4799T>C (p.Leu1600Pro)
c.4955T>C (p.Leu1652Pro)
12g.51806408T>GCA384880520SCN8Ac.4922T>G (p.Leu1641Arg)
c.2986T>G
c.4799T>G (p.Leu1600Arg)
c.4955T>G (p.Leu1652Arg)
 ClinVar dbSNP
12g.51806408T=CA2036193015SCN8Ac.4922T= (p.Leu1641=)
c.2986T=
c.4799T= (p.Leu1600=)
c.4955T= (p.Leu1652=)
12g.51806409C>ACA479788161SCN8Ac.4923C>A (p.Leu1641=)
c.2987C>A
c.4800C>A (p.Leu1600=)
c.4956C>A (p.Leu1652=)
12g.51806409C=CA2036193018SCN8Ac.4923C= (p.Leu1641=)
c.2987C=
c.4800C= (p.Leu1600=)
c.4956C= (p.Leu1652=)
12g.51806409C>GCA6571880SCN8Ac.4923C>G (p.Leu1641=)
c.2987C>G
c.4800C>G (p.Leu1600=)
c.4956C>G (p.Leu1652=)
 dbSNP ExAC gnomAD v2
12g.51806409C>TCA479788160SCN8Ac.4923C>T (p.Leu1641=)
c.2987C>T
c.4800C>T (p.Leu1600=)
c.4956C>T (p.Leu1652=)
12g.51806410T>ACA384880521SCN8Ac.4924T>A (p.Phe1642Ile)
c.2988T>A
c.4801T>A (p.Phe1601Ile)
c.4957T>A (p.Phe1653Ile)
12g.51806410T>CCA384880522SCN8Ac.4924T>C (p.Phe1642Leu)
c.2988T>C
c.4801T>C (p.Phe1601Leu)
c.4957T>C (p.Phe1653Leu)
 ClinVar dbSNP
12g.51806410T>GCA384880523SCN8Ac.4924T>G (p.Phe1642Val)
c.2988T>G
c.4801T>G (p.Phe1601Val)
c.4957T>G (p.Phe1653Val)
12g.51806410T=CA2036193024SCN8Ac.4924T= (p.Phe1642=)
c.2988T=
c.4801T= (p.Phe1601=)
c.4957T= (p.Phe1653=)
12g.51806411T>ACA384880525SCN8Ac.4925T>A (p.Phe1642Tyr)
c.2989T>A
c.4802T>A (p.Phe1601Tyr)
c.4958T>A (p.Phe1653Tyr)
12g.51806411T>CCA384880527SCN8Ac.4925T>C (p.Phe1642Ser)
c.2989T>C
c.4802T>C (p.Phe1601Ser)
c.4958T>C (p.Phe1653Ser)
12g.51806411T>GCA384880529SCN8Ac.4925T>G (p.Phe1642Cys)
c.2989T>G
c.4802T>G (p.Phe1601Cys)
c.4958T>G (p.Phe1653Cys)
12g.51806412T>ACA384880533SCN8Ac.4926T>A (p.Phe1642Leu)
c.2990T>A
c.4803T>A (p.Phe1601Leu)
c.4959T>A (p.Phe1653Leu)
12g.51806412T>CCA479788162SCN8Ac.4926T>C (p.Phe1642=)
c.2990T>C
c.4803T>C (p.Phe1601=)
c.4959T>C (p.Phe1653=)
12g.51806412T>GCA384880534SCN8Ac.4926T>G (p.Phe1642Leu)
c.2990T>G
c.4803T>G (p.Phe1601Leu)
c.4959T>G (p.Phe1653Leu)
12g.51806413G>ACA384880538SCN8Ac.4927G>A (p.Ala1643Thr)
c.2991G>A
c.4804G>A (p.Ala1602Thr)
c.4960G>A (p.Ala1654Thr)
 gnomAD v4
12g.51806413G>CCA384880540SCN8Ac.4927G>C (p.Ala1643Pro)
c.2991G>C
c.4804G>C (p.Ala1602Pro)
c.4960G>C (p.Ala1654Pro)
12g.51806413G>TCA384880542SCN8Ac.4927G>T (p.Ala1643Ser)
c.2991G>T
c.4804G>T (p.Ala1602Ser)
c.4960G>T (p.Ala1654Ser)
12g.51806414C>ACA384880544SCN8Ac.4928C>A (p.Ala1643Asp)
c.2992C>A
c.4805C>A (p.Ala1602Asp)
c.4961C>A (p.Ala1654Asp)
12g.51806414C=CA2036193031SCN8Ac.4928C= (p.Ala1643=)
c.2992C=
c.4805C= (p.Ala1602=)
c.4961C= (p.Ala1654=)
12g.51806414C>GCA384880546SCN8Ac.4928C>G (p.Ala1643Gly)
c.2992C>G
c.4805C>G (p.Ala1602Gly)
c.4961C>G (p.Ala1654Gly)
12g.51806414C>TCA236327405SCN8Ac.4928C>T (p.Ala1643Val)
c.2992C>T
c.4805C>T (p.Ala1602Val)
c.4961C>T (p.Ala1654Val)
 dbSNP
12g.51806415C>ACA479788164SCN8Ac.4929C>A (p.Ala1643=)
c.2993C>A
c.4806C>A (p.Ala1602=)
c.4962C>A (p.Ala1654=)
12g.51806415C>GCA479788165SCN8Ac.4929C>G (p.Ala1643=)
c.2993C>G
c.4806C>G (p.Ala1602=)
c.4962C>G (p.Ala1654=)
12g.51806415C>TCA479788167SCN8Ac.4929C>T (p.Ala1643=)
c.2993C>T
c.4806C>T (p.Ala1602=)
c.4962C>T (p.Ala1654=)
12g.51806416T>ACA384880550SCN8Ac.4930T>A (p.Leu1644Ile)
c.2994T>A
c.4807T>A (p.Leu1603Ile)
c.4963T>A (p.Leu1655Ile)
12g.51806416T>CCA479788168SCN8Ac.4930T>C (p.Leu1644=)
c.2994T>C
c.4807T>C (p.Leu1603=)
c.4963T>C (p.Leu1655=)
 ClinVar gnomAD v4
12g.51806416T>GCA384880552SCN8Ac.4930T>G (p.Leu1644Val)
c.2994T>G
c.4807T>G (p.Leu1603Val)
c.4963T>G (p.Leu1655Val)
12g.51806417T>ACA384880555SCN8Ac.4931T>A (p.Leu1644Ter)
c.2995T>A
c.4808T>A (p.Leu1603Ter)
c.4964T>A (p.Leu1655Ter)
12g.51806417T>CCA384880557SCN8Ac.4931T>C (p.Leu1644Ser)
c.2995T>C
c.4808T>C (p.Leu1603Ser)
c.4964T>C (p.Leu1655Ser)
12g.51806417T>GCA384880559SCN8Ac.4931T>G (p.Leu1644Ter)
c.2995T>G
c.4808T>G (p.Leu1603Ter)
c.4964T>G (p.Leu1655Ter)
12g.51806418A>CCA384880561SCN8Ac.4932A>C (p.Leu1644Phe)
c.2996A>C
c.4809A>C (p.Leu1603Phe)
c.4965A>C (p.Leu1655Phe)
12g.51806418A>GCA479788169SCN8Ac.4932A>G (p.Leu1644=)
c.2996A>G
c.4809A>G (p.Leu1603=)
c.4965A>G (p.Leu1655=)
 gnomAD v4
12g.51806418A>TCA384880564SCN8Ac.4932A>T (p.Leu1644Phe)
c.2996A>T
c.4809A>T (p.Leu1603Phe)
c.4965A>T (p.Leu1655Phe)
12g.51806419A=CA2036193038SCN8Ac.4933A= (p.Met1645=)
c.2997A=
c.4810A= (p.Met1604=)
c.4966A= (p.Met1656=)
12g.51806419A>CCA384880569SCN8Ac.4933A>C (p.Met1645Leu)
c.2997A>C
c.4810A>C (p.Met1604Leu)
c.4966A>C (p.Met1656Leu)
12g.51806419A>GCA384880566SCN8Ac.4933A>G (p.Met1645Val)
c.2997A>G
c.4810A>G (p.Met1604Val)
c.4966A>G (p.Met1656Val)
 ClinVar dbSNP
12g.51806419A>TCA384880568SCN8Ac.4933A>T (p.Met1645Leu)
c.2997A>T
c.4810A>T (p.Met1604Leu)
c.4966A>T (p.Met1656Leu)
12g.51806420T>ACA384880573SCN8Ac.4934T>A (p.Met1645Lys)
c.2998T>A
c.4811T>A (p.Met1604Lys)
c.4967T>A (p.Met1656Lys)
12g.51806420T>CCA384880575SCN8Ac.4934T>C (p.Met1645Thr)
c.2998T>C
c.4811T>C (p.Met1604Thr)
c.4967T>C (p.Met1656Thr)
12g.51806420T>GCA384880577SCN8Ac.4934T>G (p.Met1645Arg)
c.2998T>G
c.4811T>G (p.Met1604Arg)
c.4967T>G (p.Met1656Arg)
 ClinVar
12g.51806421G>ACA384880581SCN8Ac.4935G>A (p.Met1645Ile)
c.2999G>A
c.4812G>A (p.Met1604Ile)
c.4968G>A (p.Met1656Ile)
12g.51806421G>CCA384880583SCN8Ac.4935G>C (p.Met1645Ile)
c.2999G>C
c.4812G>C (p.Met1604Ile)
c.4968G>C (p.Met1656Ile)
12g.51806421G>TCA384880584SCN8Ac.4935G>T (p.Met1645Ile)
c.2999G>T
c.4812G>T (p.Met1604Ile)
c.4968G>T (p.Met1656Ile)
 ClinVar
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)
 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)
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)

Number of alleles fetched