Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806333T>ACA384880368SCN8Ac.4847T>A (p.Phe1616Tyr)
c.2911T>A
c.4724T>A (p.Phe1575Tyr)
c.4880T>A (p.Phe1627Tyr)
12g.51806333T>CCA384880369SCN8Ac.4847T>C (p.Phe1616Ser)
c.2911T>C
c.4724T>C (p.Phe1575Ser)
c.4880T>C (p.Phe1627Ser)
12g.51806333T>GCA384880370SCN8Ac.4847T>G (p.Phe1616Cys)
c.2911T>G
c.4724T>G (p.Phe1575Cys)
c.4880T>G (p.Phe1627Cys)
12g.51806334C>ACA384880371SCN8Ac.4848C>A (p.Phe1616Leu)
c.2912C>A
c.4725C>A (p.Phe1575Leu)
c.4881C>A (p.Phe1627Leu)
12g.51806334C>GCA384880372SCN8Ac.4848C>G (p.Phe1616Leu)
c.2912C>G
c.4725C>G (p.Phe1575Leu)
c.4881C>G (p.Phe1627Leu)
12g.51806334C>TCA479788030SCN8Ac.4848C>T (p.Phe1616=)
c.2912C>T
c.4725C>T (p.Phe1575=)
c.4881C>T (p.Phe1627=)
12g.51806334_51806338delCA2739291672SCN8Ac.4848_4852del (p.Arg1617HisfsTer?)
c.2912_2916del
c.4725_4729del (p.Arg1576HisfsTer?)
c.4881_4885del (p.Arg1628HisfsTer?)
12g.51806335C>ACA479788032SCN8Ac.4849C>A (p.Arg1617=)
c.2913C>A
c.4726C>A (p.Arg1576=)
c.4882C>A (p.Arg1628=)
12g.51806335C=CA2036192768SCN8Ac.4849C= (p.Arg1617=)
c.2913C=
c.4726C= (p.Arg1576=)
c.4882C= (p.Arg1628=)
12g.51806335C>GCA384880373SCN8Ac.4849C>G (p.Arg1617Gly)
c.2913C>G
c.4726C>G (p.Arg1576Gly)
c.4882C>G (p.Arg1628Gly)
12g.51806335C>TCA6571874SCN8Ac.4849C>T (p.Arg1617Ter)
c.2913C>T
c.4726C>T (p.Arg1576Ter)
c.4882C>T (p.Arg1628Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806336G>ACA170757SCN8Ac.4850G>A (p.Arg1617Gln)
c.2914G>A
c.4727G>A (p.Arg1576Gln)
c.4883G>A (p.Arg1628Gln)
 ClinVar dbSNP
12g.51806336G>CCA384880374SCN8Ac.4850G>C (p.Arg1617Pro)
c.2914G>C
c.4727G>C (p.Arg1576Pro)
c.4883G>C (p.Arg1628Pro)
12g.51806336G=CA2036192779SCN8Ac.4850G= (p.Arg1617=)
c.2914G=
c.4727G= (p.Arg1576=)
c.4883G= (p.Arg1628=)
12g.51806336G>TCA384880375SCN8Ac.4850G>T (p.Arg1617Leu)
c.2914G>T
c.4727G>T (p.Arg1576Leu)
c.4883G>T (p.Arg1628Leu)
 ClinVar dbSNP
12g.51806337A>CCA479788035SCN8Ac.4851A>C (p.Arg1617=)
c.2915A>C
c.4728A>C (p.Arg1576=)
c.4884A>C (p.Arg1628=)
12g.51806337A>GCA479788033SCN8Ac.4851A>G (p.Arg1617=)
c.2915A>G
c.4728A>G (p.Arg1576=)
c.4884A>G (p.Arg1628=)
 gnomAD v4
12g.51806337A>TCA479788034SCN8Ac.4851A>T (p.Arg1617=)
c.2915A>T
c.4728A>T (p.Arg1576=)
c.4884A>T (p.Arg1628=)
12g.51806338G>ACA384880376SCN8Ac.4852G>A (p.Val1618Ile)
c.2916G>A
c.4729G>A (p.Val1577Ile)
c.4885G>A (p.Val1629Ile)
 COSMIC COSMIC
12g.51806338G>CCA384880378SCN8Ac.4852G>C (p.Val1618Leu)
c.2916G>C
c.4729G>C (p.Val1577Leu)
c.4885G>C (p.Val1629Leu)
12g.51806338G>TCA384880377SCN8Ac.4852G>T (p.Val1618Phe)
c.2916G>T
c.4729G>T (p.Val1577Phe)
c.4885G>T (p.Val1629Phe)
12g.51806339T>ACA384880379SCN8Ac.4853T>A (p.Val1618Asp)
c.2917T>A
c.4730T>A (p.Val1577Asp)
c.4886T>A (p.Val1629Asp)
12g.51806339T>CCA384880381SCN8Ac.4853T>C (p.Val1618Ala)
c.2917T>C
c.4730T>C (p.Val1577Ala)
c.4886T>C (p.Val1629Ala)
12g.51806339T>GCA384880380SCN8Ac.4853T>G (p.Val1618Gly)
c.2917T>G
c.4730T>G (p.Val1577Gly)
c.4886T>G (p.Val1629Gly)
12g.51806340C>ACA479788037SCN8Ac.4854C>A (p.Val1618=)
c.2918C>A
c.4731C>A (p.Val1577=)
c.4887C>A (p.Val1629=)
12g.51806340C>GCA479788040SCN8Ac.4854C>G (p.Val1618=)
c.2918C>G
c.4731C>G (p.Val1577=)
c.4887C>G (p.Val1629=)
12g.51806340C>TCA479788038SCN8Ac.4854C>T (p.Val1618=)
c.2918C>T
c.4731C>T (p.Val1577=)
c.4887C>T (p.Val1629=)
12g.51806341A=CA2036192790SCN8Ac.4855A= (p.Ile1619=)
c.2919A=
c.4732A= (p.Ile1578=)
c.4888A= (p.Ile1630=)
12g.51806341A>CCA384880382SCN8Ac.4855A>C (p.Ile1619Leu)
c.2919A>C
c.4732A>C (p.Ile1578Leu)
c.4888A>C (p.Ile1630Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.51806341A>GCA384880384SCN8Ac.4855A>G (p.Ile1619Val)
c.2919A>G
c.4732A>G (p.Ile1578Val)
c.4888A>G (p.Ile1630Val)
12g.51806341A>TCA384880383SCN8Ac.4855A>T (p.Ile1619Phe)
c.2919A>T
c.4732A>T (p.Ile1578Phe)
c.4888A>T (p.Ile1630Phe)
12g.51806342T>ACA384880385SCN8Ac.4856T>A (p.Ile1619Asn)
c.2920T>A
c.4733T>A (p.Ile1578Asn)
c.4889T>A (p.Ile1630Asn)
12g.51806342T>CCA384880386SCN8Ac.4856T>C (p.Ile1619Thr)
c.2920T>C
c.4733T>C (p.Ile1578Thr)
c.4889T>C (p.Ile1630Thr)
12g.51806342T>GCA384880387SCN8Ac.4856T>G (p.Ile1619Ser)
c.2920T>G
c.4733T>G (p.Ile1578Ser)
c.4889T>G (p.Ile1630Ser)
12g.51806343C>ACA479788042SCN8Ac.4857C>A (p.Ile1619=)
c.2921C>A
c.4734C>A (p.Ile1578=)
c.4890C>A (p.Ile1630=)
 gnomAD v4
12g.51806343C=CA2036192795SCN8Ac.4857C= (p.Ile1619=)
c.2921C=
c.4734C= (p.Ile1578=)
c.4890C= (p.Ile1630=)
12g.51806343C>GCA384880388SCN8Ac.4857C>G (p.Ile1619Met)
c.2921C>G
c.4734C>G (p.Ile1578Met)
c.4890C>G (p.Ile1630Met)
12g.51806343C>TCA479788044SCN8Ac.4857C>T (p.Ile1619=)
c.2921C>T
c.4734C>T (p.Ile1578=)
c.4890C>T (p.Ile1630=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806344C>ACA479788045SCN8Ac.4858C>A (p.Arg1620=)
c.2922C>A
c.4735C>A (p.Arg1579=)
c.4891C>A (p.Arg1631=)
 gnomAD v4
12g.51806344C=CA2036192798SCN8Ac.4858C= (p.Arg1620=)
c.2922C=
c.4735C= (p.Arg1579=)
c.4891C= (p.Arg1631=)
12g.51806344C>GCA384880389SCN8Ac.4858C>G (p.Arg1620Gly)
c.2922C>G
c.4735C>G (p.Arg1579Gly)
c.4891C>G (p.Arg1631Gly)
12g.51806344C>TCA384880390SCN8Ac.4858C>T (p.Arg1620Ter)
c.2922C>T
c.4735C>T (p.Arg1579Ter)
c.4891C>T (p.Arg1631Ter)
 ClinVar dbSNP COSMIC COSMIC
12g.51806345G>ACA384880391SCN8Ac.4859G>A (p.Arg1620Gln)
c.2923G>A
c.4736G>A (p.Arg1579Gln)
c.4892G>A (p.Arg1631Gln)
 gnomAD v4
12g.51806345G>CCA384880392SCN8Ac.4859G>C (p.Arg1620Pro)
c.2923G>C
c.4736G>C (p.Arg1579Pro)
c.4892G>C (p.Arg1631Pro)
12g.51806345G=CA2036192803SCN8Ac.4859G= (p.Arg1620=)
c.2923G=
c.4736G= (p.Arg1579=)
c.4892G= (p.Arg1631=)
12g.51806345G>TCA358166SCN8Ac.4859G>T (p.Arg1620Leu)
c.2923G>T
c.4736G>T (p.Arg1579Leu)
c.4892G>T (p.Arg1631Leu)
 ClinVar dbSNP
12g.51806346_51806349dupCA2695216870SCN8Ac.4860_4863dup (p.Ala1622IlefsTer?)
c.2924_2927dup
c.4737_4740dup (p.Ala1581IlefsTer?)
c.4893_4896dup (p.Ala1633IlefsTer?)
12g.51806346A>CCA479788052SCN8Ac.4860A>C (p.Arg1620=)
c.2924A>C
c.4737A>C (p.Arg1579=)
c.4893A>C (p.Arg1631=)
12g.51806346A>GCA479788054SCN8Ac.4860A>G (p.Arg1620=)
c.2924A>G
c.4737A>G (p.Arg1579=)
c.4893A>G (p.Arg1631=)
 gnomAD v4
12g.51806346A>TCA479788055SCN8Ac.4860A>T (p.Arg1620=)
c.2924A>T
c.4737A>T (p.Arg1579=)
c.4893A>T (p.Arg1631=)
12g.51806347T>ACA384880393SCN8Ac.4861T>A (p.Leu1621Met)
c.2925T>A
c.4738T>A (p.Leu1580Met)
c.4894T>A (p.Leu1632Met)
12g.51806347T>CCA479788056SCN8Ac.4861T>C (p.Leu1621=)
c.2925T>C
c.4738T>C (p.Leu1580=)
c.4894T>C (p.Leu1632=)
 ClinVar dbSNP gnomAD v4
12g.51806347T>GCA384880394SCN8Ac.4861T>G (p.Leu1621Val)
c.2925T>G
c.4738T>G (p.Leu1580Val)
c.4894T>G (p.Leu1632Val)
12g.51806348T>ACA384880396SCN8Ac.4862T>A (p.Leu1621Ter)
c.2926T>A
c.4739T>A (p.Leu1580Ter)
c.4895T>A (p.Leu1632Ter)
 dbSNP
12g.51806348T>CCA384880395SCN8Ac.4862T>C (p.Leu1621Ser)
c.2926T>C
c.4739T>C (p.Leu1580Ser)
c.4895T>C (p.Leu1632Ser)
12g.51806348T>GCA10586297SCN8Ac.4862T>G (p.Leu1621Trp)
c.2926T>G
c.4739T>G (p.Leu1580Trp)
c.4895T>G (p.Leu1632Trp)
 ClinVar dbSNP
12g.51806348T=CA2036192806SCN8Ac.4862T= (p.Leu1621=)
c.2926T=
c.4739T= (p.Leu1580=)
c.4895T= (p.Leu1632=)
12g.51806349G>ACA479788057SCN8Ac.4863G>A (p.Leu1621=)
c.2927G>A
c.4740G>A (p.Leu1580=)
c.4896G>A (p.Leu1632=)
12g.51806349G>CCA384880397SCN8Ac.4863G>C (p.Leu1621Phe)
c.2927G>C
c.4740G>C (p.Leu1580Phe)
c.4896G>C (p.Leu1632Phe)
12g.51806349G>TCA384880398SCN8Ac.4863G>T (p.Leu1621Phe)
c.2927G>T
c.4740G>T (p.Leu1580Phe)
c.4896G>T (p.Leu1632Phe)
 gnomAD v4
12g.51806350G>ACA384880399SCN8Ac.4864G>A (p.Ala1622Thr)
c.2928G>A
c.4741G>A (p.Ala1581Thr)
c.4897G>A (p.Ala1633Thr)
12g.51806350G>CCA384880400SCN8Ac.4864G>C (p.Ala1622Pro)
c.2928G>C
c.4741G>C (p.Ala1581Pro)
c.4897G>C (p.Ala1633Pro)
12g.51806350G>TCA384880401SCN8Ac.4864G>T (p.Ala1622Ser)
c.2928G>T
c.4741G>T (p.Ala1581Ser)
c.4897G>T (p.Ala1633Ser)
12g.51806351C>ACA384880402SCN8Ac.4865C>A (p.Ala1622Asp)
c.2929C>A
c.4742C>A (p.Ala1581Asp)
c.4898C>A (p.Ala1633Asp)
 ClinVar dbSNP gnomAD v4
12g.51806351C=CA2036192815SCN8Ac.4865C= (p.Ala1622=)
c.2929C=
c.4742C= (p.Ala1581=)
c.4898C= (p.Ala1633=)
12g.51806351C>GCA384880403SCN8Ac.4865C>G (p.Ala1622Gly)
c.2929C>G
c.4742C>G (p.Ala1581Gly)
c.4898C>G (p.Ala1633Gly)
12g.51806351C>TCA384880404SCN8Ac.4865C>T (p.Ala1622Val)
c.2929C>T
c.4742C>T (p.Ala1581Val)
c.4898C>T (p.Ala1633Val)
12g.51806352C>ACA479788060SCN8Ac.4866C>A (p.Ala1622=)
c.2930C>A
c.4743C>A (p.Ala1581=)
c.4899C>A (p.Ala1633=)
 gnomAD v4
12g.51806352C>GCA479788061SCN8Ac.4866C>G (p.Ala1622=)
c.2930C>G
c.4743C>G (p.Ala1581=)
c.4899C>G (p.Ala1633=)
12g.51806352C>TCA479788062SCN8Ac.4866C>T (p.Ala1622=)
c.2930C>T
c.4743C>T (p.Ala1581=)
c.4899C>T (p.Ala1633=)
12g.51806353C>ACA384880405SCN8Ac.4867C>A (p.Arg1623Ser)
c.2931C>A
c.4744C>A (p.Arg1582Ser)
c.4900C>A (p.Arg1634Ser)
12g.51806353C=CA2036192818SCN8Ac.4867C= (p.Arg1623=)
c.2931C=
c.4744C= (p.Arg1582=)
c.4900C= (p.Arg1634=)
12g.51806353C>GCA384880406SCN8Ac.4867C>G (p.Arg1623Gly)
c.2931C>G
c.4744C>G (p.Arg1582Gly)
c.4900C>G (p.Arg1634Gly)
12g.51806353C>TCA236327337SCN8Ac.4867C>T (p.Arg1623Cys)
c.2931C>T
c.4744C>T (p.Arg1582Cys)
c.4900C>T (p.Arg1634Cys)
 ClinVar dbSNP
12g.51806354G>ACA384880409SCN8Ac.4868G>A (p.Arg1623His)
c.2932G>A
c.4745G>A (p.Arg1582His)
c.4901G>A (p.Arg1634His)
12g.51806354G>CCA384880408SCN8Ac.4868G>C (p.Arg1623Pro)
c.2932G>C
c.4745G>C (p.Arg1582Pro)
c.4901G>C (p.Arg1634Pro)
12g.51806354G>TCA384880407SCN8Ac.4868G>T (p.Arg1623Leu)
c.2932G>T
c.4745G>T (p.Arg1582Leu)
c.4901G>T (p.Arg1634Leu)
12g.51806355T>ACA479788066SCN8Ac.4869T>A (p.Arg1623=)
c.2933T>A
c.4746T>A (p.Arg1582=)
c.4902T>A (p.Arg1634=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806355T>CCA479788064SCN8Ac.4869T>C (p.Arg1623=)
c.2933T>C
c.4746T>C (p.Arg1582=)
c.4902T>C (p.Arg1634=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806355T>GCA479788063SCN8Ac.4869T>G (p.Arg1623=)
c.2933T>G
c.4746T>G (p.Arg1582=)
c.4902T>G (p.Arg1634=)
12g.51806355T=CA2036192822SCN8Ac.4869T= (p.Arg1623=)
c.2933T=
c.4746T= (p.Arg1582=)
c.4902T= (p.Arg1634=)
12g.51806356A>CCA384880410SCN8Ac.4870A>C (p.Ile1624Leu)
c.2934A>C
c.4747A>C (p.Ile1583Leu)
c.4903A>C (p.Ile1635Leu)
12g.51806356A>GCA384880411SCN8Ac.4870A>G (p.Ile1624Val)
c.2934A>G
c.4747A>G (p.Ile1583Val)
c.4903A>G (p.Ile1635Val)
 ClinVar dbSNP
12g.51806356A>TCA384880412SCN8Ac.4870A>T (p.Ile1624Phe)
c.2934A>T
c.4747A>T (p.Ile1583Phe)
c.4903A>T (p.Ile1635Phe)
12g.51806357T>ACA384880413SCN8Ac.4871T>A (p.Ile1624Asn)
c.2935T>A
c.4748T>A (p.Ile1583Asn)
c.4904T>A (p.Ile1635Asn)
12g.51806357T>CCA384880414SCN8Ac.4871T>C (p.Ile1624Thr)
c.2935T>C
c.4748T>C (p.Ile1583Thr)
c.4904T>C (p.Ile1635Thr)
12g.51806357T>GCA384880415SCN8Ac.4871T>G (p.Ile1624Ser)
c.2935T>G
c.4748T>G (p.Ile1583Ser)
c.4904T>G (p.Ile1635Ser)
 ClinVar
12g.51806358T>ACA479788071SCN8Ac.4872T>A (p.Ile1624=)
c.2936T>A
c.4749T>A (p.Ile1583=)
c.4905T>A (p.Ile1635=)
12g.51806358T>CCA479788073SCN8Ac.4872T>C (p.Ile1624=)
c.2936T>C
c.4749T>C (p.Ile1583=)
c.4905T>C (p.Ile1635=)
12g.51806358T>GCA384880416SCN8Ac.4872T>G (p.Ile1624Met)
c.2936T>G
c.4749T>G (p.Ile1583Met)
c.4905T>G (p.Ile1635Met)
12g.51806359G>ACA10586298SCN8Ac.4873G>A (p.Gly1625Arg)
c.2937G>A
c.4750G>A (p.Gly1584Arg)
c.4906G>A (p.Gly1636Arg)
 ClinVar dbSNP
12g.51806359G>CCA384880417SCN8Ac.4873G>C (p.Gly1625Arg)
c.2937G>C
c.4750G>C (p.Gly1584Arg)
c.4906G>C (p.Gly1636Arg)
12g.51806359G=CA2036192835SCN8Ac.4873G= (p.Gly1625=)
c.2937G=
c.4750G= (p.Gly1584=)
c.4906G= (p.Gly1636=)
12g.51806359G>TCA16606656SCN8Ac.4873G>T (p.Gly1625Trp)
c.2937G>T
c.4750G>T (p.Gly1584Trp)
c.4906G>T (p.Gly1636Trp)
 ClinVar dbSNP
12g.51806359_51806367dupCA2695216871SCN8Ac.4873_4881dup (p.Ile1627_Leu1628insGlyArgIle)
c.2937_2945dup
c.4750_4758dup (p.Ile1586_Leu1587insGlyArgIle)
c.4906_4914dup (p.Ile1638_Leu1639insGlyArgIle)
12g.51806360G>ACA384880418SCN8Ac.4874G>A (p.Gly1625Glu)
c.2938G>A
c.4751G>A (p.Gly1584Glu)
c.4907G>A (p.Gly1636Glu)
12g.51806360G>CCA384880419SCN8Ac.4874G>C (p.Gly1625Ala)
c.2938G>C
c.4751G>C (p.Gly1584Ala)
c.4907G>C (p.Gly1636Ala)
12g.51806360G>TCA384880420SCN8Ac.4874G>T (p.Gly1625Val)
c.2938G>T
c.4751G>T (p.Gly1584Val)
c.4907G>T (p.Gly1636Val)
12g.51806361G>ACA6571875SCN8Ac.4875G>A (p.Gly1625=)
c.2939G>A
c.4752G>A (p.Gly1584=)
c.4908G>A (p.Gly1636=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806361G>CCA479788080SCN8Ac.4875G>C (p.Gly1625=)
c.2939G>C
c.4752G>C (p.Gly1584=)
c.4908G>C (p.Gly1636=)
12g.51806361G=CA2036192843SCN8Ac.4875G= (p.Gly1625=)
c.2939G=
c.4752G= (p.Gly1584=)
c.4908G= (p.Gly1636=)
12g.51806361G>TCA479788082SCN8Ac.4875G>T (p.Gly1625=)
c.2939G>T
c.4752G>T (p.Gly1584=)
c.4908G>T (p.Gly1636=)
12g.51806362C>ACA384880421SCN8Ac.4876C>A (p.Arg1626Ser)
c.2940C>A
c.4753C>A (p.Arg1585Ser)
c.4909C>A (p.Arg1637Ser)
 gnomAD v4
12g.51806362C>GCA384880422SCN8Ac.4876C>G (p.Arg1626Gly)
c.2940C>G
c.4753C>G (p.Arg1585Gly)
c.4909C>G (p.Arg1637Gly)
12g.51806362C>TCA384880423SCN8Ac.4876C>T (p.Arg1626Cys)
c.2940C>T
c.4753C>T (p.Arg1585Cys)
c.4909C>T (p.Arg1637Cys)
 ClinVar dbSNP
12g.51806363G>ACA10606625SCN8Ac.4877G>A (p.Arg1626His)
c.2941G>A
c.4754G>A (p.Arg1585His)
c.4910G>A (p.Arg1637His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51806363G>CCA384880424SCN8Ac.4877G>C (p.Arg1626Pro)
c.2941G>C
c.4754G>C (p.Arg1585Pro)
c.4910G>C (p.Arg1637Pro)
12g.51806363G=CA2036192853SCN8Ac.4877G= (p.Arg1626=)
c.2941G=
c.4754G= (p.Arg1585=)
c.4910G= (p.Arg1637=)
12g.51806363G>TCA384880425SCN8Ac.4877G>T (p.Arg1626Leu)
c.2941G>T
c.4754G>T (p.Arg1585Leu)
c.4910G>T (p.Arg1637Leu)
 ClinVar dbSNP
12g.51806364C>ACA479788087SCN8Ac.4878C>A (p.Arg1626=)
c.2942C>A
c.4755C>A (p.Arg1585=)
c.4911C>A (p.Arg1637=)
12g.51806364C>GCA479788088SCN8Ac.4878C>G (p.Arg1626=)
c.2942C>G
c.4755C>G (p.Arg1585=)
c.4911C>G (p.Arg1637=)
12g.51806364C>TCA479788089SCN8Ac.4878C>T (p.Arg1626=)
c.2942C>T
c.4755C>T (p.Arg1585=)
c.4911C>T (p.Arg1637=)
12g.51806365A=CA2036192866SCN8Ac.4879A= (p.Ile1627=)
c.2943A=
c.4756A= (p.Ile1586=)
c.4912A= (p.Ile1638=)
12g.51806365A>CCA384880426SCN8Ac.4879A>C (p.Ile1627Leu)
c.2943A>C
c.4756A>C (p.Ile1586Leu)
c.4912A>C (p.Ile1638Leu)
 ClinVar dbSNP
12g.51806365A>GCA384880427SCN8Ac.4879A>G (p.Ile1627Val)
c.2943A>G
c.4756A>G (p.Ile1586Val)
c.4912A>G (p.Ile1638Val)
12g.51806365A>TCA384880428SCN8Ac.4879A>T (p.Ile1627Phe)
c.2943A>T
c.4756A>T (p.Ile1586Phe)
c.4912A>T (p.Ile1638Phe)
12g.51806366T>ACA384880429SCN8Ac.4880T>A (p.Ile1627Asn)
c.2944T>A
c.4757T>A (p.Ile1586Asn)
c.4913T>A (p.Ile1638Asn)
 ClinVar dbSNP
12g.51806366T>CCA384880430SCN8Ac.4880T>C (p.Ile1627Thr)
c.2944T>C
c.4757T>C (p.Ile1586Thr)
c.4913T>C (p.Ile1638Thr)
 ClinVar
12g.51806366T>GCA384880431SCN8Ac.4880T>G (p.Ile1627Ser)
c.2944T>G
c.4757T>G (p.Ile1586Ser)
c.4913T>G (p.Ile1638Ser)
12g.51806366T=CA2036192873SCN8Ac.4880T= (p.Ile1627=)
c.2944T=
c.4757T= (p.Ile1586=)
c.4913T= (p.Ile1638=)
12g.51806367C>ACA479788090SCN8Ac.4881C>A (p.Ile1627=)
c.2945C>A
c.4758C>A (p.Ile1586=)
c.4914C>A (p.Ile1638=)
12g.51806367C=CA2036192879SCN8Ac.4881C= (p.Ile1627=)
c.2945C=
c.4758C= (p.Ile1586=)
c.4914C= (p.Ile1638=)
12g.51806367C>GCA384880432SCN8Ac.4881C>G (p.Ile1627Met)
c.2945C>G
c.4758C>G (p.Ile1586Met)
c.4914C>G (p.Ile1638Met)
12g.51806367C>TCA479788093SCN8Ac.4881C>T (p.Ile1627=)
c.2945C>T
c.4758C>T (p.Ile1586=)
c.4914C>T (p.Ile1638=)
 dbSNP
12g.51806368T>ACA384880434SCN8Ac.4882T>A (p.Leu1628Met)
c.2946T>A
c.4759T>A (p.Leu1587Met)
c.4915T>A (p.Leu1639Met)
12g.51806368T>CCA479788094SCN8Ac.4882T>C (p.Leu1628=)
c.2946T>C
c.4759T>C (p.Leu1587=)
c.4915T>C (p.Leu1639=)
12g.51806368T>GCA384880433SCN8Ac.4882T>G (p.Leu1628Val)
c.2946T>G
c.4759T>G (p.Leu1587Val)
c.4915T>G (p.Leu1639Val)
12g.51806369T>ACA384880435SCN8Ac.4883T>A (p.Leu1628Ter)
c.2947T>A
c.4760T>A (p.Leu1587Ter)
c.4916T>A (p.Leu1639Ter)
 dbSNP
12g.51806369T>CCA384880437SCN8Ac.4883T>C (p.Leu1628Ser)
c.2947T>C
c.4760T>C (p.Leu1587Ser)
c.4916T>C (p.Leu1639Ser)
 ClinVar dbSNP
12g.51806369T>GCA384880436SCN8Ac.4883T>G (p.Leu1628Trp)
c.2947T>G
c.4760T>G (p.Leu1587Trp)
c.4916T>G (p.Leu1639Trp)
 ClinVar dbSNP
12g.51806369T=CA2036192891SCN8Ac.4883T= (p.Leu1628=)
c.2947T=
c.4760T= (p.Leu1587=)
c.4916T= (p.Leu1639=)
12g.51806370G>ACA6571876SCN8Ac.4884G>A (p.Leu1628=)
c.2948G>A
c.4761G>A (p.Leu1587=)
c.4917G>A (p.Leu1639=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806370G>CCA384880438SCN8Ac.4884G>C (p.Leu1628Phe)
c.2948G>C
c.4761G>C (p.Leu1587Phe)
c.4917G>C (p.Leu1639Phe)
12g.51806370G=CA2036192902SCN8Ac.4884G= (p.Leu1628=)
c.2948G=
c.4761G= (p.Leu1587=)
c.4917G= (p.Leu1639=)
12g.51806370G>TCA384880439SCN8Ac.4884G>T (p.Leu1628Phe)
c.2948G>T
c.4761G>T (p.Leu1587Phe)
c.4917G>T (p.Leu1639Phe)
12g.51806371C>ACA384880440SCN8Ac.4885C>A (p.Arg1629Ser)
c.2949C>A
c.4762C>A (p.Arg1588Ser)
c.4918C>A (p.Arg1640Ser)
12g.51806371C=CA2036192915SCN8Ac.4885C= (p.Arg1629=)
c.2949C=
c.4762C= (p.Arg1588=)
c.4918C= (p.Arg1640=)
12g.51806371C>GCA384880441SCN8Ac.4885C>G (p.Arg1629Gly)
c.2949C>G
c.4762C>G (p.Arg1588Gly)
c.4918C>G (p.Arg1640Gly)
12g.51806371C>TCA384880442SCN8Ac.4885C>T (p.Arg1629Cys)
c.2949C>T
c.4762C>T (p.Arg1588Cys)
c.4918C>T (p.Arg1640Cys)
 ClinVar dbSNP gnomAD v4
12g.51806372G>ACA6571877SCN8Ac.4886G>A (p.Arg1629His)
c.2950G>A
c.4763G>A (p.Arg1588His)
c.4919G>A (p.Arg1640His)
 ClinVar dbSNP ExAC
12g.51806372G>CCA384880443SCN8Ac.4886G>C (p.Arg1629Pro)
c.2950G>C
c.4763G>C (p.Arg1588Pro)
c.4919G>C (p.Arg1640Pro)
 ClinVar
12g.51806372G=CA2036192922SCN8Ac.4886G= (p.Arg1629=)
c.2950G=
c.4763G= (p.Arg1588=)
c.4919G= (p.Arg1640=)
12g.51806372G>TCA384880444SCN8Ac.4886G>T (p.Arg1629Leu)
c.2950G>T
c.4763G>T (p.Arg1588Leu)
c.4919G>T (p.Arg1640Leu)
12g.51806373T>ACA479788100SCN8Ac.4887T>A (p.Arg1629=)
c.2951T>A
c.4764T>A (p.Arg1588=)
c.4920T>A (p.Arg1640=)
12g.51806373T>CCA479788101SCN8Ac.4887T>C (p.Arg1629=)
c.2951T>C
c.4764T>C (p.Arg1588=)
c.4920T>C (p.Arg1640=)
12g.51806373T>GCA6571878SCN8Ac.4887T>G (p.Arg1629=)
c.2951T>G
c.4764T>G (p.Arg1588=)
c.4920T>G (p.Arg1640=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806373T=CA2036192932SCN8Ac.4887T= (p.Arg1629=)
c.2951T=
c.4764T= (p.Arg1588=)
c.4920T= (p.Arg1640=)
12g.51806374C>ACA384880445SCN8Ac.4888C>A (p.Leu1630Met)
c.2952C>A
c.4765C>A (p.Leu1589Met)
c.4921C>A (p.Leu1641Met)
12g.51806374C>GCA384880446SCN8Ac.4888C>G (p.Leu1630Val)
c.2952C>G
c.4765C>G (p.Leu1589Val)
c.4921C>G (p.Leu1641Val)
12g.51806374C>TCA479788102SCN8Ac.4888C>T (p.Leu1630=)
c.2952C>T
c.4765C>T (p.Leu1589=)
c.4921C>T (p.Leu1641=)
12g.51806375T>ACA384880447SCN8Ac.4889T>A (p.Leu1630Gln)
c.2953T>A
c.4766T>A (p.Leu1589Gln)
c.4922T>A (p.Leu1641Gln)
12g.51806375T>CCA318288SCN8Ac.4889T>C (p.Leu1630Pro)
c.2953T>C
c.4766T>C (p.Leu1589Pro)
c.4922T>C (p.Leu1641Pro)
 ClinVar dbSNP
12g.51806375T>GCA384880448SCN8Ac.4889T>G (p.Leu1630Arg)
c.2953T>G
c.4766T>G (p.Leu1589Arg)
c.4922T>G (p.Leu1641Arg)
12g.51806375T=CA2036192935SCN8Ac.4889T= (p.Leu1630=)
c.2953T=
c.4766T= (p.Leu1589=)
c.4922T= (p.Leu1641=)
12g.51806376G>ACA479788105SCN8Ac.4890G>A (p.Leu1630=)
c.2954G>A
c.4767G>A (p.Leu1589=)
c.4923G>A (p.Leu1641=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806376G>CCA479788106SCN8Ac.4890G>C (p.Leu1630=)
c.2954G>C
c.4767G>C (p.Leu1589=)
c.4923G>C (p.Leu1641=)
12g.51806376G=CA2036192939SCN8Ac.4890G= (p.Leu1630=)
c.2954G=
c.4767G= (p.Leu1589=)
c.4923G= (p.Leu1641=)
12g.51806376G>TCA479788104SCN8Ac.4890G>T (p.Leu1630=)
c.2954G>T
c.4767G>T (p.Leu1589=)
c.4923G>T (p.Leu1641=)
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=)

Number of alleles fetched