Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.51806534A>CCA384882680SCN8Ac.5048A>C (p.Asp1683Ala)
c.3112A>C
c.4925A>C (p.Asp1642Ala)
c.5081A>C (p.Asp1694Ala)
12g.51806534A>GCA384882682SCN8Ac.5048A>G (p.Asp1683Gly)
c.3112A>G
c.4925A>G (p.Asp1642Gly)
c.5081A>G (p.Asp1694Gly)
12g.51806534A>TCA384882685SCN8Ac.5048A>T (p.Asp1683Val)
c.3112A>T
c.4925A>T (p.Asp1642Val)
c.5081A>T (p.Asp1694Val)
12g.51806535T>ACA384882695SCN8Ac.5049T>A (p.Asp1683Glu)
c.3113T>A
c.4926T>A (p.Asp1642Glu)
c.5082T>A (p.Asp1694Glu)
12g.51806535T>CCA480061844SCN8Ac.5049T>C (p.Asp1683=)
c.3113T>C
c.4926T>C (p.Asp1642=)
c.5082T>C (p.Asp1694=)
 ClinVar dbSNP
12g.51806535T>GCA384882698SCN8Ac.5049T>G (p.Asp1683Glu)
c.3113T>G
c.4926T>G (p.Asp1642Glu)
c.5082T>G (p.Asp1694Glu)
12g.51806536G>ACA384882703SCN8Ac.5050G>A (p.Asp1684Asn)
c.3114G>A
c.4927G>A (p.Asp1643Asn)
c.5083G>A (p.Asp1695Asn)
12g.51806536G>CCA384882708SCN8Ac.5050G>C (p.Asp1684His)
c.3114G>C
c.4927G>C (p.Asp1643His)
c.5083G>C (p.Asp1695His)
 gnomAD v4
12g.51806536G>TCA384882710SCN8Ac.5050G>T (p.Asp1684Tyr)
c.3114G>T
c.4927G>T (p.Asp1643Tyr)
c.5083G>T (p.Asp1695Tyr)
12g.51806537A>CCA384882713SCN8Ac.5051A>C (p.Asp1684Ala)
c.3115A>C
c.4928A>C (p.Asp1643Ala)
c.5084A>C (p.Asp1695Ala)
12g.51806537A>GCA384882711SCN8Ac.5051A>G (p.Asp1684Gly)
c.3115A>G
c.4928A>G (p.Asp1643Gly)
c.5084A>G (p.Asp1695Gly)
12g.51806537A>TCA384882712SCN8Ac.5051A>T (p.Asp1684Val)
c.3115A>T
c.4928A>T (p.Asp1643Val)
c.5084A>T (p.Asp1695Val)
12g.51806538C>ACA384882715SCN8Ac.5052C>A (p.Asp1684Glu)
c.3116C>A
c.4929C>A (p.Asp1643Glu)
c.5085C>A (p.Asp1695Glu)
12g.51806538C>GCA384882717SCN8Ac.5052C>G (p.Asp1684Glu)
c.3116C>G
c.4929C>G (p.Asp1643Glu)
c.5085C>G (p.Asp1695Glu)
12g.51806538C>TCA480061849SCN8Ac.5052C>T (p.Asp1684=)
c.3116C>T
c.4929C>T (p.Asp1643=)
c.5085C>T (p.Asp1695=)
 ClinVar dbSNP gnomAD v4
12g.51806539A>CCA384882719SCN8Ac.5053A>C (p.Met1685Leu)
c.3117A>C
c.4930A>C (p.Met1644Leu)
c.5086A>C (p.Met1696Leu)
12g.51806539A>GCA384882725SCN8Ac.5053A>G (p.Met1685Val)
c.3117A>G
c.4930A>G (p.Met1644Val)
c.5086A>G (p.Met1696Val)
12g.51806539A>TCA384882729SCN8Ac.5053A>T (p.Met1685Leu)
c.3117A>T
c.4930A>T (p.Met1644Leu)
c.5086A>T (p.Met1696Leu)
12g.51806540T>ACA384882731SCN8Ac.5054T>A (p.Met1685Lys)
c.3118T>A
c.4931T>A (p.Met1644Lys)
c.5087T>A (p.Met1696Lys)
12g.51806540T>CCA384882733SCN8Ac.5054T>C (p.Met1685Thr)
c.3118T>C
c.4931T>C (p.Met1644Thr)
c.5087T>C (p.Met1696Thr)
12g.51806540T>GCA384882735SCN8Ac.5054T>G (p.Met1685Arg)
c.3118T>G
c.4931T>G (p.Met1644Arg)
c.5087T>G (p.Met1696Arg)
12g.51806541G>ACA384882742SCN8Ac.5055G>A (p.Met1685Ile)
c.3119G>A
c.4932G>A (p.Met1644Ile)
c.5088G>A (p.Met1696Ile)
12g.51806541G>CCA384882744SCN8Ac.5055G>C (p.Met1685Ile)
c.3119G>C
c.4932G>C (p.Met1644Ile)
c.5088G>C (p.Met1696Ile)
12g.51806541G>TCA384882750SCN8Ac.5055G>T (p.Met1685Ile)
c.3119G>T
c.4932G>T (p.Met1644Ile)
c.5088G>T (p.Met1696Ile)
12g.51806542T>ACA384882755SCN8Ac.5056T>A (p.Phe1686Ile)
c.3120T>A
c.4933T>A (p.Phe1645Ile)
c.5089T>A (p.Phe1697Ile)
12g.51806542T>CCA384882758SCN8Ac.5056T>C (p.Phe1686Leu)
c.3120T>C
c.4933T>C (p.Phe1645Leu)
c.5089T>C (p.Phe1697Leu)
12g.51806542T>GCA384882753SCN8Ac.5056T>G (p.Phe1686Val)
c.3120T>G
c.4933T>G (p.Phe1645Val)
c.5089T>G (p.Phe1697Val)
 ClinVar
12g.51806543T>ACA384882761SCN8Ac.5057T>A (p.Phe1686Tyr)
c.3121T>A
c.4934T>A (p.Phe1645Tyr)
c.5090T>A (p.Phe1697Tyr)
12g.51806543T>CCA384882763SCN8Ac.5057T>C (p.Phe1686Ser)
c.3121T>C
c.4934T>C (p.Phe1645Ser)
c.5090T>C (p.Phe1697Ser)
12g.51806543T>GCA384882766SCN8Ac.5057T>G (p.Phe1686Cys)
c.3121T>G
c.4934T>G (p.Phe1645Cys)
c.5090T>G (p.Phe1697Cys)
12g.51806544C>ACA384882770SCN8Ac.5058C>A (p.Phe1686Leu)
c.3122C>A
c.4935C>A (p.Phe1645Leu)
c.5091C>A (p.Phe1697Leu)
12g.51806544C=CA2036193239SCN8Ac.5058C= (p.Phe1686=)
c.3122C=
c.4935C= (p.Phe1645=)
c.5091C= (p.Phe1697=)
12g.51806544C>GCA384882774SCN8Ac.5058C>G (p.Phe1686Leu)
c.3122C>G
c.4935C>G (p.Phe1645Leu)
c.5091C>G (p.Phe1697Leu)
12g.51806544C>TCA236327457SCN8Ac.5058C>T (p.Phe1686=)
c.3122C>T
c.4935C>T (p.Phe1645=)
c.5091C>T (p.Phe1697=)
 dbSNP gnomAD v4
12g.51806545A>CCA384882780SCN8Ac.5059A>C (p.Asn1687His)
c.3123A>C
c.4936A>C (p.Asn1646His)
c.5092A>C (p.Asn1698His)
12g.51806545A>GCA384882800SCN8Ac.5059A>G (p.Asn1687Asp)
c.3123A>G
c.4936A>G (p.Asn1646Asp)
c.5092A>G (p.Asn1698Asp)
12g.51806545A>TCA384882803SCN8Ac.5059A>T (p.Asn1687Tyr)
c.3123A>T
c.4936A>T (p.Asn1646Tyr)
c.5092A>T (p.Asn1698Tyr)
12g.51806546A=CA2036193245SCN8Ac.5060A= (p.Asn1687=)
c.3124A=
c.4937A= (p.Asn1646=)
c.5093A= (p.Asn1698=)
12g.51806546A>CCA384882805SCN8Ac.5060A>C (p.Asn1687Thr)
c.3124A>C
c.4937A>C (p.Asn1646Thr)
c.5093A>C (p.Asn1698Thr)
12g.51806546A>GCA236327459SCN8Ac.5060A>G (p.Asn1687Ser)
c.3124A>G
c.4937A>G (p.Asn1646Ser)
c.5093A>G (p.Asn1698Ser)
 dbSNP
12g.51806546A>TCA384882810SCN8Ac.5060A>T (p.Asn1687Ile)
c.3124A>T
c.4937A>T (p.Asn1646Ile)
c.5093A>T (p.Asn1698Ile)
12g.51806547C>ACA384882811SCN8Ac.5061C>A (p.Asn1687Lys)
c.3125C>A
c.4938C>A (p.Asn1646Lys)
c.5094C>A (p.Asn1698Lys)
12g.51806547C>GCA384882813SCN8Ac.5061C>G (p.Asn1687Lys)
c.3125C>G
c.4938C>G (p.Asn1646Lys)
c.5094C>G (p.Asn1698Lys)
12g.51806547C>TCA480061865SCN8Ac.5061C>T (p.Asn1687=)
c.3125C>T
c.4938C>T (p.Asn1646=)
c.5094C>T (p.Asn1698=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806548T>ACA384882819SCN8Ac.5062T>A (p.Phe1688Ile)
c.3126T>A
c.4939T>A (p.Phe1647Ile)
c.5095T>A (p.Phe1699Ile)
12g.51806548T>CCA384882818SCN8Ac.5062T>C (p.Phe1688Leu)
c.3126T>C
c.4939T>C (p.Phe1647Leu)
c.5095T>C (p.Phe1699Leu)
12g.51806548T>GCA384882817SCN8Ac.5062T>G (p.Phe1688Val)
c.3126T>G
c.4939T>G (p.Phe1647Val)
c.5095T>G (p.Phe1699Val)
12g.51806549T>ACA384882820SCN8Ac.5063T>A (p.Phe1688Tyr)
c.3127T>A
c.4940T>A (p.Phe1647Tyr)
c.5096T>A (p.Phe1699Tyr)
 dbSNP
12g.51806549T>CCA384882821SCN8Ac.5063T>C (p.Phe1688Ser)
c.3127T>C
c.4940T>C (p.Phe1647Ser)
c.5096T>C (p.Phe1699Ser)
12g.51806549T>GCA384882823SCN8Ac.5063T>G (p.Phe1688Cys)
c.3127T>G
c.4940T>G (p.Phe1647Cys)
c.5096T>G (p.Phe1699Cys)
12g.51806550T>ACA384882827SCN8Ac.5064T>A (p.Phe1688Leu)
c.3128T>A
c.4941T>A (p.Phe1647Leu)
c.5097T>A (p.Phe1699Leu)
12g.51806550T>CCA480061877SCN8Ac.5064T>C (p.Phe1688=)
c.3128T>C
c.4941T>C (p.Phe1647=)
c.5097T>C (p.Phe1699=)
12g.51806550T>GCA384882830SCN8Ac.5064T>G (p.Phe1688Leu)
c.3128T>G
c.4941T>G (p.Phe1647Leu)
c.5097T>G (p.Phe1699Leu)
12g.51806551G>ACA384882834SCN8Ac.5065G>A (p.Glu1689Lys)
c.3129G>A
c.4942G>A (p.Glu1648Lys)
c.5098G>A (p.Glu1700Lys)
12g.51806551G>CCA384882838SCN8Ac.5065G>C (p.Glu1689Gln)
c.3129G>C
c.4942G>C (p.Glu1648Gln)
c.5098G>C (p.Glu1700Gln)
 gnomAD v4
12g.51806551G=CA2036193248SCN8Ac.5065G= (p.Glu1689=)
c.3129G=
c.4942G= (p.Glu1648=)
c.5098G= (p.Glu1700=)
12g.51806551G>TCA384882841SCN8Ac.5065G>T (p.Glu1689Ter)
c.3129G>T
c.4942G>T (p.Glu1648Ter)
c.5098G>T (p.Glu1700Ter)
 dbSNP COSMIC COSMIC
12g.51806552A>CCA384882845SCN8Ac.5066A>C (p.Glu1689Ala)
c.3130A>C
c.4943A>C (p.Glu1648Ala)
c.5099A>C (p.Glu1700Ala)
 ClinVar
12g.51806552A>GCA384882848SCN8Ac.5066A>G (p.Glu1689Gly)
c.3130A>G
c.4943A>G (p.Glu1648Gly)
c.5099A>G (p.Glu1700Gly)
12g.51806552A>TCA384882850SCN8Ac.5066A>T (p.Glu1689Val)
c.3130A>T
c.4943A>T (p.Glu1648Val)
c.5099A>T (p.Glu1700Val)
12g.51806553G>ACA480061885SCN8Ac.5067G>A (p.Glu1689=)
c.3131G>A
c.4944G>A (p.Glu1648=)
c.5100G>A (p.Glu1700=)
12g.51806553G>CCA384882853SCN8Ac.5067G>C (p.Glu1689Asp)
c.3131G>C
c.4944G>C (p.Glu1648Asp)
c.5100G>C (p.Glu1700Asp)
12g.51806553G>TCA384882856SCN8Ac.5067G>T (p.Glu1689Asp)
c.3131G>T
c.4944G>T (p.Glu1648Asp)
c.5100G>T (p.Glu1700Asp)
12g.51806554A>CCA384882866SCN8Ac.5068A>C (p.Thr1690Pro)
c.3132A>C
c.4945A>C (p.Thr1649Pro)
c.5101A>C (p.Thr1701Pro)
12g.51806554A>GCA384882871SCN8Ac.5068A>G (p.Thr1690Ala)
c.3132A>G
c.4945A>G (p.Thr1649Ala)
c.5101A>G (p.Thr1701Ala)
12g.51806554A>TCA384882863SCN8Ac.5068A>T (p.Thr1690Ser)
c.3132A>T
c.4945A>T (p.Thr1649Ser)
c.5101A>T (p.Thr1701Ser)
12g.51806555C>ACA384882877SCN8Ac.5069C>A (p.Thr1690Lys)
c.3133C>A
c.4946C>A (p.Thr1649Lys)
c.5102C>A (p.Thr1701Lys)
12g.51806555C=CA2036193252SCN8Ac.5069C= (p.Thr1690=)
c.3133C=
c.4946C= (p.Thr1649=)
c.5102C= (p.Thr1701=)
12g.51806555C>GCA384882874SCN8Ac.5069C>G (p.Thr1690Arg)
c.3133C>G
c.4946C>G (p.Thr1649Arg)
c.5102C>G (p.Thr1701Arg)
 dbSNP
12g.51806555C>TCA384882891SCN8Ac.5069C>T (p.Thr1690Ile)
c.3133C>T
c.4946C>T (p.Thr1649Ile)
c.5102C>T (p.Thr1701Ile)
 dbSNP gnomAD v4
12g.51806556A=CA2036193259SCN8Ac.5070A= (p.Thr1690=)
c.3134A=
c.4947A= (p.Thr1649=)
c.5103A= (p.Thr1701=)
12g.51806556A>CCA236327463SCN8Ac.5070A>C (p.Thr1690=)
c.3134A>C
c.4947A>C (p.Thr1649=)
c.5103A>C (p.Thr1701=)
 dbSNP
12g.51806556A>GCA6571888SCN8Ac.5070A>G (p.Thr1690=)
c.3134A>G
c.4947A>G (p.Thr1649=)
c.5103A>G (p.Thr1701=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806556A>TCA480061900SCN8Ac.5070A>T (p.Thr1690=)
c.3134A>T
c.4947A>T (p.Thr1649=)
c.5103A>T (p.Thr1701=)
12g.51806557T>ACA384882916SCN8Ac.5071T>A (p.Phe1691Ile)
c.3135T>A
c.4948T>A (p.Phe1650Ile)
c.5104T>A (p.Phe1702Ile)
12g.51806557T>CCA384882918SCN8Ac.5071T>C (p.Phe1691Leu)
c.3135T>C
c.4948T>C (p.Phe1650Leu)
c.5104T>C (p.Phe1702Leu)
12g.51806557T>GCA384882919SCN8Ac.5071T>G (p.Phe1691Val)
c.3135T>G
c.4948T>G (p.Phe1650Val)
c.5104T>G (p.Phe1702Val)
12g.51806558T>ACA384882923SCN8Ac.5072T>A (p.Phe1691Tyr)
c.3136T>A
c.4949T>A (p.Phe1650Tyr)
c.5105T>A (p.Phe1702Tyr)
 dbSNP
12g.51806558T>CCA384882925SCN8Ac.5072T>C (p.Phe1691Ser)
c.3136T>C
c.4949T>C (p.Phe1650Ser)
c.5105T>C (p.Phe1702Ser)
12g.51806558T>GCA384882929SCN8Ac.5072T>G (p.Phe1691Cys)
c.3136T>G
c.4949T>G (p.Phe1650Cys)
c.5105T>G (p.Phe1702Cys)
12g.51806558T=CA2036193268SCN8Ac.5072T= (p.Phe1691=)
c.3136T=
c.4949T= (p.Phe1650=)
c.5105T= (p.Phe1702=)
12g.51806559T>ACA384882933SCN8Ac.5073T>A (p.Phe1691Leu)
c.3137T>A
c.4950T>A (p.Phe1650Leu)
c.5106T>A (p.Phe1702Leu)
12g.51806559T>CCA480061906SCN8Ac.5073T>C (p.Phe1691=)
c.3137T>C
c.4950T>C (p.Phe1650=)
c.5106T>C (p.Phe1702=)
12g.51806559T>GCA384882937SCN8Ac.5073T>G (p.Phe1691Leu)
c.3137T>G
c.4950T>G (p.Phe1650Leu)
c.5106T>G (p.Phe1702Leu)
12g.51806560G>ACA384882938SCN8Ac.5074G>A (p.Gly1692Ser)
c.3138G>A
c.4951G>A (p.Gly1651Ser)
c.5107G>A (p.Gly1703Ser)
12g.51806560G>CCA384882939SCN8Ac.5074G>C (p.Gly1692Arg)
c.3138G>C
c.4951G>C (p.Gly1651Arg)
c.5107G>C (p.Gly1703Arg)
12g.51806560G>TCA384882942SCN8Ac.5074G>T (p.Gly1692Cys)
c.3138G>T
c.4951G>T (p.Gly1651Cys)
c.5107G>T (p.Gly1703Cys)
12g.51806560_51806575delinsGGCAACAGCATGATCTCA2036193271SCN8Ac.5074_5089delinsGGCAACAGCATGATCT (p.Gly1692=)
c.3138_3153delinsGGCAACAGCATGATCT
c.4951_4966delinsGGCAACAGCATGATCT (p.Gly1651=)
c.5107_5122delinsGGCAACAGCATGATCT (p.Gly1703=)
12g.51806561G>ACA384882950SCN8Ac.5075G>A (p.Gly1692Asp)
c.3139G>A
c.4952G>A (p.Gly1651Asp)
c.5108G>A (p.Gly1703Asp)
 dbSNP gnomAD v4
12g.51806561G>CCA384882945SCN8Ac.5075G>C (p.Gly1692Ala)
c.3139G>C
c.4952G>C (p.Gly1651Ala)
c.5108G>C (p.Gly1703Ala)
12g.51806561G=CA2036193274SCN8Ac.5075G= (p.Gly1692=)
c.3139G=
c.4952G= (p.Gly1651=)
c.5108G= (p.Gly1703=)
12g.51806561G>TCA384882948SCN8Ac.5075G>T (p.Gly1692Val)
c.3139G>T
c.4952G>T (p.Gly1651Val)
c.5108G>T (p.Gly1703Val)
12g.51806561_51806562delinsAACA2580086519SCN8Ac.5075_5076delinsAA (p.Gly1692Glu)
c.3139_3140delinsAA
c.4952_4953delinsAA (p.Gly1651Glu)
c.5108_5109delinsAA (p.Gly1703Glu)
 ClinVar
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

Number of alleles fetched