Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806621_51806623delCA2580615202SCN8Ac.5135_5137del (p.Leu1712del)
c.3199_3201del
c.5012_5014del (p.Leu1671del)
c.5168_5170del (p.Leu1723del)
 ClinVar dbSNP
12g.51806623C>ACA384883700SCN8Ac.5137C>A (p.Pro1713Thr)
c.3201C>A
c.5014C>A (p.Pro1672Thr)
c.5170C>A (p.Pro1724Thr)
12g.51806623C>GCA384883702SCN8Ac.5137C>G (p.Pro1713Ala)
c.3201C>G
c.5014C>G (p.Pro1672Ala)
c.5170C>G (p.Pro1724Ala)
12g.51806623C>TCA384883705SCN8Ac.5137C>T (p.Pro1713Ser)
c.3201C>T
c.5014C>T (p.Pro1672Ser)
c.5170C>T (p.Pro1724Ser)
12g.51806624C>ACA384883710SCN8Ac.5138C>A (p.Pro1713His)
c.3202C>A
c.5015C>A (p.Pro1672His)
c.5171C>A (p.Pro1724His)
 ClinVar
12g.51806624C>GCA384883712SCN8Ac.5138C>G (p.Pro1713Arg)
c.3202C>G
c.5015C>G (p.Pro1672Arg)
c.5171C>G (p.Pro1724Arg)
12g.51806624C>TCA384883725SCN8Ac.5138C>T (p.Pro1713Leu)
c.3202C>T
c.5015C>T (p.Pro1672Leu)
c.5171C>T (p.Pro1724Leu)
12g.51806625C>ACA480062047SCN8Ac.5139C>A (p.Pro1713=)
c.3203C>A
c.5016C>A (p.Pro1672=)
c.5172C>A (p.Pro1724=)
 gnomAD v4
12g.51806625C>GCA480062048SCN8Ac.5139C>G (p.Pro1713=)
c.3203C>G
c.5016C>G (p.Pro1672=)
c.5172C>G (p.Pro1724=)
12g.51806625C>TCA480062049SCN8Ac.5139C>T (p.Pro1713=)
c.3203C>T
c.5016C>T (p.Pro1672=)
c.5172C>T (p.Pro1724=)
12g.51806626A>CCA384883756SCN8Ac.5140A>C (p.Ile1714Leu)
c.3204A>C
c.5017A>C (p.Ile1673Leu)
c.5173A>C (p.Ile1725Leu)
12g.51806626A>GCA384883761SCN8Ac.5140A>G (p.Ile1714Val)
c.3204A>G
c.5017A>G (p.Ile1673Val)
c.5173A>G (p.Ile1725Val)
12g.51806626A>TCA384883732SCN8Ac.5140A>T (p.Ile1714Phe)
c.3204A>T
c.5017A>T (p.Ile1673Phe)
c.5173A>T (p.Ile1725Phe)
12g.51806627T>ACA384883766SCN8Ac.5141T>A (p.Ile1714Asn)
c.3205T>A
c.5018T>A (p.Ile1673Asn)
c.5174T>A (p.Ile1725Asn)
12g.51806627T>CCA384883769SCN8Ac.5141T>C (p.Ile1714Thr)
c.3205T>C
c.5018T>C (p.Ile1673Thr)
c.5174T>C (p.Ile1725Thr)
12g.51806627T>GCA384883773SCN8Ac.5141T>G (p.Ile1714Ser)
c.3205T>G
c.5018T>G (p.Ile1673Ser)
c.5174T>G (p.Ile1725Ser)
12g.51806628C>ACA480062056SCN8Ac.5142C>A (p.Ile1714=)
c.3206C>A
c.5019C>A (p.Ile1673=)
c.5175C>A (p.Ile1725=)
12g.51806628C>GCA384883777SCN8Ac.5142C>G (p.Ile1714Met)
c.3206C>G
c.5019C>G (p.Ile1673Met)
c.5175C>G (p.Ile1725Met)
12g.51806628C>TCA480062057SCN8Ac.5142C>T (p.Ile1714=)
c.3206C>T
c.5019C>T (p.Ile1673=)
c.5175C>T (p.Ile1725=)
12g.51806629C>ACA384883785SCN8Ac.5143C>A (p.Leu1715Ile)
c.3207C>A
c.5020C>A (p.Leu1674Ile)
c.5176C>A (p.Leu1726Ile)
12g.51806629C>GCA384883795SCN8Ac.5143C>G (p.Leu1715Val)
c.3207C>G
c.5020C>G (p.Leu1674Val)
c.5176C>G (p.Leu1726Val)
12g.51806629C>TCA480062059SCN8Ac.5143C>T (p.Leu1715=)
c.3207C>T
c.5020C>T (p.Leu1674=)
c.5176C>T (p.Leu1726=)
12g.51806630T>ACA384883807SCN8Ac.5144T>A (p.Leu1715Gln)
c.3208T>A
c.5021T>A (p.Leu1674Gln)
c.5177T>A (p.Leu1726Gln)
12g.51806630T>CCA384883822SCN8Ac.5144T>C (p.Leu1715Pro)
c.3208T>C
c.5021T>C (p.Leu1674Pro)
c.5177T>C (p.Leu1726Pro)
12g.51806630T>GCA384883827SCN8Ac.5144T>G (p.Leu1715Arg)
c.3208T>G
c.5021T>G (p.Leu1674Arg)
c.5177T>G (p.Leu1726Arg)
12g.51806631A=CA2036193362SCN8Ac.5145A= (p.Leu1715=)
c.3209A=
c.5022A= (p.Leu1674=)
c.5178A= (p.Leu1726=)
12g.51806631A>CCA480062061SCN8Ac.5145A>C (p.Leu1715=)
c.3209A>C
c.5022A>C (p.Leu1674=)
c.5178A>C (p.Leu1726=)
12g.51806631A>GCA6571891SCN8Ac.5145A>G (p.Leu1715=)
c.3209A>G
c.5022A>G (p.Leu1674=)
c.5178A>G (p.Leu1726=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806631A>TCA480062066SCN8Ac.5145A>T (p.Leu1715=)
c.3209A>T
c.5022A>T (p.Leu1674=)
c.5178A>T (p.Leu1726=)
12g.51806632A>CCA384883835SCN8Ac.5146A>C (p.Asn1716His)
c.3210A>C
c.5023A>C (p.Asn1675His)
c.5179A>C (p.Asn1727His)
12g.51806632A>GCA384883854SCN8Ac.5146A>G (p.Asn1716Asp)
c.3210A>G
c.5023A>G (p.Asn1675Asp)
c.5179A>G (p.Asn1727Asp)
12g.51806632A>TCA384883858SCN8Ac.5146A>T (p.Asn1716Tyr)
c.3210A>T
c.5023A>T (p.Asn1675Tyr)
c.5179A>T (p.Asn1727Tyr)
12g.51806633A>CCA384883879SCN8Ac.5147A>C (p.Asn1716Thr)
c.3211A>C
c.5024A>C (p.Asn1675Thr)
c.5180A>C (p.Asn1727Thr)
12g.51806633A>GCA384883878SCN8Ac.5147A>G (p.Asn1716Ser)
c.3211A>G
c.5024A>G (p.Asn1675Ser)
c.5180A>G (p.Asn1727Ser)
12g.51806633A>TCA384883872SCN8Ac.5147A>T (p.Asn1716Ile)
c.3211A>T
c.5024A>T (p.Asn1675Ile)
c.5180A>T (p.Asn1727Ile)
12g.51806634C>ACA384883884SCN8Ac.5148C>A (p.Asn1716Lys)
c.3212C>A
c.5025C>A (p.Asn1675Lys)
c.5181C>A (p.Asn1727Lys)
12g.51806634C=CA2036193368SCN8Ac.5148C= (p.Asn1716=)
c.3212C=
c.5025C= (p.Asn1675=)
c.5181C= (p.Asn1727=)
12g.51806634C>GCA384883887SCN8Ac.5148C>G (p.Asn1716Lys)
c.3212C>G
c.5025C>G (p.Asn1675Lys)
c.5181C>G (p.Asn1727Lys)
 dbSNP
12g.51806634C>TCA480062075SCN8Ac.5148C>T (p.Asn1716=)
c.3212C>T
c.5025C>T (p.Asn1675=)
c.5181C>T (p.Asn1727=)
 COSMIC COSMIC
12g.51806635C>ACA384883892SCN8Ac.5149C>A (p.Arg1717Ser)
c.3213C>A
c.5026C>A (p.Arg1676Ser)
c.5182C>A (p.Arg1728Ser)
12g.51806635C=CA2036193373SCN8Ac.5149C= (p.Arg1717=)
c.3213C=
c.5026C= (p.Arg1676=)
c.5182C= (p.Arg1728=)
12g.51806635C>GCA384883895SCN8Ac.5149C>G (p.Arg1717Gly)
c.3213C>G
c.5026C>G (p.Arg1676Gly)
c.5182C>G (p.Arg1728Gly)
 ClinVar dbSNP gnomAD v4
12g.51806635C>TCA384883901SCN8Ac.5149C>T (p.Arg1717Cys)
c.3213C>T
c.5026C>T (p.Arg1676Cys)
c.5182C>T (p.Arg1728Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806636G>ACA6571892SCN8Ac.5150G>A (p.Arg1717His)
c.3214G>A
c.5027G>A (p.Arg1676His)
c.5183G>A (p.Arg1728His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806636G>CCA384883924SCN8Ac.5150G>C (p.Arg1717Pro)
c.3214G>C
c.5027G>C (p.Arg1676Pro)
c.5183G>C (p.Arg1728Pro)
12g.51806636G=CA2036193378SCN8Ac.5150G= (p.Arg1717=)
c.3214G=
c.5027G= (p.Arg1676=)
c.5183G= (p.Arg1728=)
12g.51806636G>TCA384883933SCN8Ac.5150G>T (p.Arg1717Leu)
c.3214G>T
c.5027G>T (p.Arg1676Leu)
c.5183G>T (p.Arg1728Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.51806637C>ACA480062082SCN8Ac.5151C>A (p.Arg1717=)
c.3215C>A
c.5028C>A (p.Arg1676=)
c.5184C>A (p.Arg1728=)
12g.51806637C=CA2036193390SCN8Ac.5151C= (p.Arg1717=)
c.3215C=
c.5028C= (p.Arg1676=)
c.5184C= (p.Arg1728=)
12g.51806637C>GCA480062081SCN8Ac.5151C>G (p.Arg1717=)
c.3215C>G
c.5028C>G (p.Arg1676=)
c.5184C>G (p.Arg1728=)
12g.51806637C>TCA6571893SCN8Ac.5151C>T (p.Arg1717=)
c.3215C>T
c.5028C>T (p.Arg1676=)
c.5184C>T (p.Arg1728=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806642dupCA605238622SCN8Ac.5156dup (p.Asp1720Ter)
c.3220dup
c.5033dup (p.Asp1679Ter)
c.5189dup (p.Asp1731Ter)
 ClinVar dbSNP gnomAD v2
12g.51806641_51806642dupCA2795967144SCN8Ac.5155_5156dup (p.Asp1720LeufsTer5)
c.3219_3220dup
c.5032_5033dup (p.Asp1679LeufsTer5)
c.5188_5189dup (p.Asp1731LeufsTer5)
12g.51806638C>ACA384883939SCN8Ac.5152C>A (p.Pro1718Thr)
c.3216C>A
c.5029C>A (p.Pro1677Thr)
c.5185C>A (p.Pro1729Thr)
 gnomAD v4
12g.51806638C=CA2036193398SCN8Ac.5152C= (p.Pro1718=)
c.3216C=
c.5029C= (p.Pro1677=)
c.5185C= (p.Pro1729=)
12g.51806638C>GCA384883941SCN8Ac.5152C>G (p.Pro1718Ala)
c.3216C>G
c.5029C>G (p.Pro1677Ala)
c.5185C>G (p.Pro1729Ala)
12g.51806638C>TCA242781SCN8Ac.5152C>T (p.Pro1718Ser)
c.3216C>T
c.5029C>T (p.Pro1677Ser)
c.5185C>T (p.Pro1729Ser)
 ClinVar dbSNP
12g.51806639C>ACA384883956SCN8Ac.5153C>A (p.Pro1718His)
c.3217C>A
c.5030C>A (p.Pro1677His)
c.5186C>A (p.Pro1729His)
12g.51806639C>GCA384883954SCN8Ac.5153C>G (p.Pro1718Arg)
c.3217C>G
c.5030C>G (p.Pro1677Arg)
c.5186C>G (p.Pro1729Arg)
12g.51806639C>TCA384883951SCN8Ac.5153C>T (p.Pro1718Leu)
c.3217C>T
c.5030C>T (p.Pro1677Leu)
c.5186C>T (p.Pro1729Leu)
12g.51806640C>ACA480062085SCN8Ac.5154C>A (p.Pro1718=)
c.3218C>A
c.5031C>A (p.Pro1677=)
c.5187C>A (p.Pro1729=)
12g.51806640C>GCA480062086SCN8Ac.5154C>G (p.Pro1718=)
c.3218C>G
c.5031C>G (p.Pro1677=)
c.5187C>G (p.Pro1729=)
12g.51806640C>TCA480062088SCN8Ac.5154C>T (p.Pro1718=)
c.3218C>T
c.5031C>T (p.Pro1677=)
c.5187C>T (p.Pro1729=)
12g.51806641C>ACA384883961SCN8Ac.5155C>A (p.Pro1719Thr)
c.3219C>A
c.5032C>A (p.Pro1678Thr)
c.5188C>A (p.Pro1730Thr)
12g.51806641C=CA2036193406SCN8Ac.5155C= (p.Pro1719=)
c.3219C=
c.5032C= (p.Pro1678=)
c.5188C= (p.Pro1730=)
12g.51806641C>GCA384883967SCN8Ac.5155C>G (p.Pro1719Ala)
c.3219C>G
c.5032C>G (p.Pro1678Ala)
c.5188C>G (p.Pro1730Ala)
 ClinVar dbSNP
12g.51806641C>TCA384883968SCN8Ac.5155C>T (p.Pro1719Ser)
c.3219C>T
c.5032C>T (p.Pro1678Ser)
c.5188C>T (p.Pro1730Ser)
12g.51806641_51806643delinsCCTCA2036193404SCN8Ac.5155_5157delinsCCT (p.Pro1719=)
c.3219_3221delinsCCT
c.5032_5034delinsCCT (p.Pro1678=)
c.5188_5190delinsCCT (p.Pro1730=)
12g.51806642C>ACA384883975SCN8Ac.5156C>A (p.Pro1719His)
c.3220C>A
c.5033C>A (p.Pro1678His)
c.5189C>A (p.Pro1730His)
12g.51806642C=CA2036193418SCN8Ac.5156C= (p.Pro1719=)
c.3220C=
c.5033C= (p.Pro1678=)
c.5189C= (p.Pro1730=)
12g.51806642C>GCA384883977SCN8Ac.5156C>G (p.Pro1719Arg)
c.3220C>G
c.5033C>G (p.Pro1678Arg)
c.5189C>G (p.Pro1730Arg)
 ClinVar dbSNP
12g.51806642C>TCA384883980SCN8Ac.5156C>T (p.Pro1719Leu)
c.3220C>T
c.5033C>T (p.Pro1678Leu)
c.5189C>T (p.Pro1730Leu)
12g.51806642_51806643delCA119993SCN8Ac.5156_5157del (p.Pro1719ArgfsTer6)
c.3220_3221del
c.5033_5034del (p.Pro1678ArgfsTer6)
c.5189_5190del (p.Pro1730ArgfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806643delCA2499221740SCN8Ac.5157del (p.Asp1720ThrfsTer4)
c.3221del
c.5034del (p.Asp1679ThrfsTer4)
c.5190del (p.Asp1731ThrfsTer4)
 ClinVar dbSNP
12g.51806643T>ACA480062097SCN8Ac.5157T>A (p.Pro1719=)
c.3221T>A
c.5034T>A (p.Pro1678=)
c.5190T>A (p.Pro1730=)
12g.51806643T>CCA480062098SCN8Ac.5157T>C (p.Pro1719=)
c.3221T>C
c.5034T>C (p.Pro1678=)
c.5190T>C (p.Pro1730=)
12g.51806643T>GCA480062099SCN8Ac.5157T>G (p.Pro1719=)
c.3221T>G
c.5034T>G (p.Pro1678=)
c.5190T>G (p.Pro1730=)
12g.51806644G>ACA384884013SCN8Ac.5158G>A (p.Asp1720Asn)
c.3222G>A
c.5035G>A (p.Asp1679Asn)
c.5191G>A (p.Asp1731Asn)
12g.51806644G>CCA384883999SCN8Ac.5158G>C (p.Asp1720His)
c.3222G>C
c.5035G>C (p.Asp1679His)
c.5191G>C (p.Asp1731His)
12g.51806644G>TCA384884004SCN8Ac.5158G>T (p.Asp1720Tyr)
c.3222G>T
c.5035G>T (p.Asp1679Tyr)
c.5191G>T (p.Asp1731Tyr)
12g.51806645A>CCA384884017SCN8Ac.5159A>C (p.Asp1720Ala)
c.3223A>C
c.5036A>C (p.Asp1679Ala)
c.5192A>C (p.Asp1731Ala)
12g.51806645A>GCA384884020SCN8Ac.5159A>G (p.Asp1720Gly)
c.3223A>G
c.5036A>G (p.Asp1679Gly)
c.5192A>G (p.Asp1731Gly)
12g.51806645A>TCA384884021SCN8Ac.5159A>T (p.Asp1720Val)
c.3223A>T
c.5036A>T (p.Asp1679Val)
c.5192A>T (p.Asp1731Val)
12g.51806646C>ACA6571894SCN8Ac.5160C>A (p.Asp1720Glu)
c.3224C>A
c.5037C>A (p.Asp1679Glu)
c.5193C>A (p.Asp1731Glu)
 dbSNP ExAC
12g.51806646C=CA2036193427SCN8Ac.5160C= (p.Asp1720=)
c.3224C=
c.5037C= (p.Asp1679=)
c.5193C= (p.Asp1731=)
12g.51806646C>GCA384884033SCN8Ac.5160C>G (p.Asp1720Glu)
c.3224C>G
c.5037C>G (p.Asp1679Glu)
c.5193C>G (p.Asp1731Glu)
12g.51806646C>TCA480062104SCN8Ac.5160C>T (p.Asp1720=)
c.3224C>T
c.5037C>T (p.Asp1679=)
c.5193C>T (p.Asp1731=)
 dbSNP
12g.51806647T>ACA384884034SCN8Ac.5161T>A (p.Cys1721Ser)
c.3225T>A
c.5038T>A (p.Cys1680Ser)
c.5194T>A (p.Cys1732Ser)
12g.51806647T>CCA384884039SCN8Ac.5161T>C (p.Cys1721Arg)
c.3225T>C
c.5038T>C (p.Cys1680Arg)
c.5194T>C (p.Cys1732Arg)
12g.51806647T>GCA384884035SCN8Ac.5161T>G (p.Cys1721Gly)
c.3225T>G
c.5038T>G (p.Cys1680Gly)
c.5194T>G (p.Cys1732Gly)
12g.51806648G>ACA384884043SCN8Ac.5162G>A (p.Cys1721Tyr)
c.3226G>A
c.5039G>A (p.Cys1680Tyr)
c.5195G>A (p.Cys1732Tyr)
 ClinVar dbSNP
12g.51806648G>CCA384884050SCN8Ac.5162G>C (p.Cys1721Ser)
c.3226G>C
c.5039G>C (p.Cys1680Ser)
c.5195G>C (p.Cys1732Ser)
12g.51806648G>TCA384884055SCN8Ac.5162G>T (p.Cys1721Phe)
c.3226G>T
c.5039G>T (p.Cys1680Phe)
c.5195G>T (p.Cys1732Phe)
 COSMIC COSMIC
12g.51806649C>ACA384884060SCN8Ac.5163C>A (p.Cys1721Ter)
c.3227C>A
c.5040C>A (p.Cys1680Ter)
c.5196C>A (p.Cys1732Ter)
 dbSNP
12g.51806649C=CA2036193443SCN8Ac.5163C= (p.Cys1721=)
c.3227C=
c.5040C= (p.Cys1680=)
c.5196C= (p.Cys1732=)
12g.51806649C>GCA384884063SCN8Ac.5163C>G (p.Cys1721Trp)
c.3227C>G
c.5040C>G (p.Cys1680Trp)
c.5196C>G (p.Cys1732Trp)
12g.51806649C>TCA480062108SCN8Ac.5163C>T (p.Cys1721=)
c.3227C>T
c.5040C>T (p.Cys1680=)
c.5196C>T (p.Cys1732=)
 ClinVar dbSNP
12g.51806650A>CCA384884080SCN8Ac.5164A>C (p.Ser1722Arg)
c.3228A>C
c.5041A>C (p.Ser1681Arg)
c.5197A>C (p.Ser1733Arg)
12g.51806650A>GCA384884084SCN8Ac.5164A>G (p.Ser1722Gly)
c.3228A>G
c.5041A>G (p.Ser1681Gly)
c.5197A>G (p.Ser1733Gly)
 gnomAD v4
12g.51806650A>TCA384884088SCN8Ac.5164A>T (p.Ser1722Cys)
c.3228A>T
c.5041A>T (p.Ser1681Cys)
c.5197A>T (p.Ser1733Cys)
12g.51806651G>ACA384884093SCN8Ac.5165G>A (p.Ser1722Asn)
c.3229G>A
c.5042G>A (p.Ser1681Asn)
c.5198G>A (p.Ser1733Asn)
12g.51806651G>CCA384884094SCN8Ac.5165G>C (p.Ser1722Thr)
c.3229G>C
c.5042G>C (p.Ser1681Thr)
c.5198G>C (p.Ser1733Thr)
12g.51806651G>TCA384884095SCN8Ac.5165G>T (p.Ser1722Ile)
c.3229G>T
c.5042G>T (p.Ser1681Ile)
c.5198G>T (p.Ser1733Ile)
 ClinVar
12g.51806652C>ACA384884100SCN8Ac.5166C>A (p.Ser1722Arg)
c.3230C>A
c.5043C>A (p.Ser1681Arg)
c.5199C>A (p.Ser1733Arg)
12g.51806652C=CA2036193448SCN8Ac.5166C= (p.Ser1722=)
c.3230C=
c.5043C= (p.Ser1681=)
c.5199C= (p.Ser1733=)
12g.51806652C>GCA384884106SCN8Ac.5166C>G (p.Ser1722Arg)
c.3230C>G
c.5043C>G (p.Ser1681Arg)
c.5199C>G (p.Ser1733Arg)
 gnomAD v4
12g.51806652C>TCA6571895SCN8Ac.5166C>T (p.Ser1722=)
c.3230C>T
c.5043C>T (p.Ser1681=)
c.5199C>T (p.Ser1733=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806653C>ACA384884111SCN8Ac.5167C>A (p.Leu1723Ile)
c.3231C>A
c.5044C>A (p.Leu1682Ile)
c.5200C>A (p.Leu1734Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806653C=CA2036193459SCN8Ac.5167C= (p.Leu1723=)
c.3231C=
c.5044C= (p.Leu1682=)
c.5200C= (p.Leu1734=)
12g.51806653C>GCA384884126SCN8Ac.5167C>G (p.Leu1723Val)
c.3231C>G
c.5044C>G (p.Leu1682Val)
c.5200C>G (p.Leu1734Val)
 ClinVar dbSNP gnomAD v4
12g.51806653C>TCA236327499SCN8Ac.5167C>T (p.Leu1723=)
c.3231C>T
c.5044C>T (p.Leu1682=)
c.5200C>T (p.Leu1734=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51806654T>ACA384884132SCN8Ac.5168T>A (p.Leu1723Gln)
c.3232T>A
c.5045T>A (p.Leu1682Gln)
c.5201T>A (p.Leu1734Gln)
12g.51806654T>CCA384884137SCN8Ac.5168T>C (p.Leu1723Pro)
c.3232T>C
c.5045T>C (p.Leu1682Pro)
c.5201T>C (p.Leu1734Pro)
12g.51806654T>GCA384884140SCN8Ac.5168T>G (p.Leu1723Arg)
c.3232T>G
c.5045T>G (p.Leu1682Arg)
c.5201T>G (p.Leu1734Arg)
12g.51806655A>CCA480062133SCN8Ac.5169A>C (p.Leu1723=)
c.3233A>C
c.5046A>C (p.Leu1682=)
c.5202A>C (p.Leu1734=)
12g.51806655A>GCA480062135SCN8Ac.5169A>G (p.Leu1723=)
c.3233A>G
c.5046A>G (p.Leu1682=)
c.5202A>G (p.Leu1734=)
12g.51806655A>TCA480062137SCN8Ac.5169A>T (p.Leu1723=)
c.3233A>T
c.5046A>T (p.Leu1682=)
c.5202A>T (p.Leu1734=)
12g.51806656G>ACA384884152SCN8Ac.5170G>A (p.Asp1724Asn)
c.3234G>A
c.5047G>A (p.Asp1683Asn)
c.5203G>A (p.Asp1735Asn)
12g.51806656G>CCA384884156SCN8Ac.5170G>C (p.Asp1724His)
c.3234G>C
c.5047G>C (p.Asp1683His)
c.5203G>C (p.Asp1735His)
 dbSNP gnomAD v2 gnomAD v4
12g.51806656G=CA2036193468SCN8Ac.5170G= (p.Asp1724=)
c.3234G=
c.5047G= (p.Asp1683=)
c.5203G= (p.Asp1735=)
12g.51806656G>TCA384884172SCN8Ac.5170G>T (p.Asp1724Tyr)
c.3234G>T
c.5047G>T (p.Asp1683Tyr)
c.5203G>T (p.Asp1735Tyr)
 ClinVar dbSNP
12g.51806657A>CCA384884179SCN8Ac.5171A>C (p.Asp1724Ala)
c.3235A>C
c.5048A>C (p.Asp1683Ala)
c.5204A>C (p.Asp1735Ala)
12g.51806657A>GCA384884185SCN8Ac.5171A>G (p.Asp1724Gly)
c.3235A>G
c.5048A>G (p.Asp1683Gly)
c.5204A>G (p.Asp1735Gly)
12g.51806657A>TCA384884189SCN8Ac.5171A>T (p.Asp1724Val)
c.3235A>T
c.5048A>T (p.Asp1683Val)
c.5204A>T (p.Asp1735Val)
12g.51806658T>ACA384884190SCN8Ac.5172T>A (p.Asp1724Glu)
c.3236T>A
c.5049T>A (p.Asp1683Glu)
c.5205T>A (p.Asp1735Glu)
12g.51806658T>CCA480062150SCN8Ac.5172T>C (p.Asp1724=)
c.3236T>C
c.5049T>C (p.Asp1683=)
c.5205T>C (p.Asp1735=)
12g.51806658T>GCA384884191SCN8Ac.5172T>G (p.Asp1724Glu)
c.3236T>G
c.5049T>G (p.Asp1683Glu)
c.5205T>G (p.Asp1735Glu)
12g.51806659A=CA2036193480SCN8Ac.5173A= (p.Lys1725=)
c.3237A=
c.5050A= (p.Lys1684=)
c.5206A= (p.Lys1736=)
12g.51806659A>CCA384884196SCN8Ac.5173A>C (p.Lys1725Gln)
c.3237A>C
c.5050A>C (p.Lys1684Gln)
c.5206A>C (p.Lys1736Gln)
12g.51806659A>GCA384884205SCN8Ac.5173A>G (p.Lys1725Glu)
c.3237A>G
c.5050A>G (p.Lys1684Glu)
c.5206A>G (p.Lys1736Glu)
12g.51806659A>TCA384884202SCN8Ac.5173A>T (p.Lys1725Ter)
c.3237A>T
c.5050A>T (p.Lys1684Ter)
c.5206A>T (p.Lys1736Ter)
 dbSNP
12g.51806660A>CCA384884209SCN8Ac.5174A>C (p.Lys1725Thr)
c.3238A>C
c.5051A>C (p.Lys1684Thr)
c.5207A>C (p.Lys1736Thr)
12g.51806660A>GCA384884213SCN8Ac.5174A>G (p.Lys1725Arg)
c.3238A>G
c.5051A>G (p.Lys1684Arg)
c.5207A>G (p.Lys1736Arg)
12g.51806660A>TCA384884215SCN8Ac.5174A>T (p.Lys1725Met)
c.3238A>T
c.5051A>T (p.Lys1684Met)
c.5207A>T (p.Lys1736Met)
12g.51806661G>ACA480062159SCN8Ac.5175G>A (p.Lys1725=)
c.3239G>A
c.5052G>A (p.Lys1684=)
c.5208G>A (p.Lys1736=)
12g.51806661G>CCA384884220SCN8Ac.5175G>C (p.Lys1725Asn)
c.3239G>C
c.5052G>C (p.Lys1684Asn)
c.5208G>C (p.Lys1736Asn)
12g.51806661G>TCA384884221SCN8Ac.5175G>T (p.Lys1725Asn)
c.3239G>T
c.5052G>T (p.Lys1684Asn)
c.5208G>T (p.Lys1736Asn)
12g.51806662G>ACA384884222SCN8Ac.5176G>A (p.Glu1726Lys)
c.3240G>A
c.5053G>A (p.Glu1685Lys)
c.5209G>A (p.Glu1737Lys)
12g.51806662G>CCA384884225SCN8Ac.5176G>C (p.Glu1726Gln)
c.3240G>C
c.5053G>C (p.Glu1685Gln)
c.5209G>C (p.Glu1737Gln)
 gnomAD v4
12g.51806662G=CA2036193490SCN8Ac.5176G= (p.Glu1726=)
c.3240G=
c.5053G= (p.Glu1685=)
c.5209G= (p.Glu1737=)
12g.51806662G>TCA384884231SCN8Ac.5176G>T (p.Glu1726Ter)
c.3240G>T
c.5053G>T (p.Glu1685Ter)
c.5209G>T (p.Glu1737Ter)
 ClinVar dbSNP
12g.51806663A>CCA384884236SCN8Ac.5177A>C (p.Glu1726Ala)
c.3241A>C
c.5054A>C (p.Glu1685Ala)
c.5210A>C (p.Glu1737Ala)
12g.51806663A>GCA384884242SCN8Ac.5177A>G (p.Glu1726Gly)
c.3241A>G
c.5054A>G (p.Glu1685Gly)
c.5210A>G (p.Glu1737Gly)
12g.51806663A>TCA384884249SCN8Ac.5177A>T (p.Glu1726Val)
c.3241A>T
c.5054A>T (p.Glu1685Val)
c.5210A>T (p.Glu1737Val)
12g.51806664A>CCA384884252SCN8Ac.5178A>C (p.Glu1726Asp)
c.3242A>C
c.5055A>C (p.Glu1685Asp)
c.5211A>C (p.Glu1737Asp)
12g.51806664A>GCA480062166SCN8Ac.5178A>G (p.Glu1726=)
c.3242A>G
c.5055A>G (p.Glu1685=)
c.5211A>G (p.Glu1737=)
 ClinVar dbSNP
12g.51806664A>TCA384884253SCN8Ac.5178A>T (p.Glu1726Asp)
c.3242A>T
c.5055A>T (p.Glu1685Asp)
c.5211A>T (p.Glu1737Asp)
12g.51806666_51806667dupCA947652693SCN8Ac.5180_5181dup (p.Pro1728ThrfsTer21)
c.3244_3245dup
c.5057_5058dup (p.Pro1687ThrfsTer21)
c.5213_5214dup (p.Pro1739ThrfsTer21)
 gnomAD v3 gnomAD v4
12g.51806665C>ACA384884256SCN8Ac.5179C>A (p.His1727Asn)
c.3243C>A
c.5056C>A (p.His1686Asn)
c.5212C>A (p.His1738Asn)
 ClinVar gnomAD v4
12g.51806665C>GCA384884266SCN8Ac.5179C>G (p.His1727Asp)
c.3243C>G
c.5056C>G (p.His1686Asp)
c.5212C>G (p.His1738Asp)
12g.51806665C>TCA384884259SCN8Ac.5179C>T (p.His1727Tyr)
c.3243C>T
c.5056C>T (p.His1686Tyr)
c.5212C>T (p.His1738Tyr)
12g.51806666A>CCA384884274SCN8Ac.5180A>C (p.His1727Pro)
c.3244A>C
c.5057A>C (p.His1686Pro)
c.5213A>C (p.His1738Pro)
12g.51806666A>GCA384884279SCN8Ac.5180A>G (p.His1727Arg)
c.3244A>G
c.5057A>G (p.His1686Arg)
c.5213A>G (p.His1738Arg)
12g.51806666A>TCA384884283SCN8Ac.5180A>T (p.His1727Leu)
c.3244A>T
c.5057A>T (p.His1686Leu)
c.5213A>T (p.His1738Leu)
12g.51806667C>ACA16043838SCN8Ac.5181C>A (p.His1727Gln)
c.3245C>A
c.5058C>A (p.His1686Gln)
c.5214C>A (p.His1738Gln)
 ClinVar dbSNP
12g.51806667C=CA2036193495SCN8Ac.5181C= (p.His1727=)
c.3245C=
c.5058C= (p.His1686=)
c.5214C= (p.His1738=)
12g.51806667C>GCA384884291SCN8Ac.5181C>G (p.His1727Gln)
c.3245C>G
c.5058C>G (p.His1686Gln)
c.5214C>G (p.His1738Gln)
12g.51806667C>TCA480062178SCN8Ac.5181C>T (p.His1727=)
c.3245C>T
c.5058C>T (p.His1686=)
c.5214C>T (p.His1738=)
12g.51806668C>ACA384884301SCN8Ac.5182C>A (p.Pro1728Thr)
c.3246C>A
c.5059C>A (p.Pro1687Thr)
c.5215C>A (p.Pro1739Thr)
12g.51806668C>GCA384884300SCN8Ac.5182C>G (p.Pro1728Ala)
c.3246C>G
c.5059C>G (p.Pro1687Ala)
c.5215C>G (p.Pro1739Ala)
12g.51806668C>TCA384884299SCN8Ac.5182C>T (p.Pro1728Ser)
c.3246C>T
c.5059C>T (p.Pro1687Ser)
c.5215C>T (p.Pro1739Ser)
12g.51806669C>ACA384884302SCN8Ac.5183C>A (p.Pro1728Gln)
c.3247C>A
c.5060C>A (p.Pro1687Gln)
c.5216C>A (p.Pro1739Gln)
12g.51806669C>GCA384884304SCN8Ac.5183C>G (p.Pro1728Arg)
c.3247C>G
c.5060C>G (p.Pro1687Arg)
c.5216C>G (p.Pro1739Arg)
12g.51806669C>TCA384884310SCN8Ac.5183C>T (p.Pro1728Leu)
c.3247C>T
c.5060C>T (p.Pro1687Leu)
c.5216C>T (p.Pro1739Leu)
12g.51806670A>CCA480062185SCN8Ac.5184A>C (p.Pro1728=)
c.3248A>C
c.5061A>C (p.Pro1687=)
c.5217A>C (p.Pro1739=)
12g.51806670A>GCA480062187SCN8Ac.5184A>G (p.Pro1728=)
c.3248A>G
c.5061A>G (p.Pro1687=)
c.5217A>G (p.Pro1739=)
12g.51806670A>TCA480062186SCN8Ac.5184A>T (p.Pro1728=)
c.3248A>T
c.5061A>T (p.Pro1687=)
c.5217A>T (p.Pro1739=)
12g.51806671G>ACA384884314SCN8Ac.5185G>A (p.Gly1729Arg)
c.3249G>A
c.5062G>A (p.Gly1688Arg)
c.5218G>A (p.Gly1740Arg)
12g.51806671G>CCA384884318SCN8Ac.5185G>C (p.Gly1729Arg)
c.3249G>C
c.5062G>C (p.Gly1688Arg)
c.5218G>C (p.Gly1740Arg)
12g.51806671G>TCA384884321SCN8Ac.5185G>T (p.Gly1729Trp)
c.3249G>T
c.5062G>T (p.Gly1688Trp)
c.5218G>T (p.Gly1740Trp)
12g.51806672G>ACA384884331SCN8Ac.5186G>A (p.Gly1729Glu)
c.3250G>A
c.5063G>A (p.Gly1688Glu)
c.5219G>A (p.Gly1740Glu)
12g.51806672G>CCA384884342SCN8Ac.5186G>C (p.Gly1729Ala)
c.3250G>C
c.5063G>C (p.Gly1688Ala)
c.5219G>C (p.Gly1740Ala)
12g.51806672G>TCA384884332SCN8Ac.5186G>T (p.Gly1729Val)
c.3250G>T
c.5063G>T (p.Gly1688Val)
c.5219G>T (p.Gly1740Val)
12g.51806673G>ACA480062196SCN8Ac.5187G>A (p.Gly1729=)
c.3251G>A
c.5064G>A (p.Gly1688=)
c.5220G>A (p.Gly1740=)
12g.51806673G>CCA480062198SCN8Ac.5187G>C (p.Gly1729=)
c.3251G>C
c.5064G>C (p.Gly1688=)
c.5220G>C (p.Gly1740=)
12g.51806673G>TCA480062200SCN8Ac.5187G>T (p.Gly1729=)
c.3251G>T
c.5064G>T (p.Gly1688=)
c.5220G>T (p.Gly1740=)
12g.51806674A>CCA384884348SCN8Ac.5188A>C (p.Ser1730Arg)
c.3252A>C
c.5065A>C (p.Ser1689Arg)
c.5221A>C (p.Ser1741Arg)
12g.51806674A>GCA384884349SCN8Ac.5188A>G (p.Ser1730Gly)
c.3252A>G
c.5065A>G (p.Ser1689Gly)
c.5221A>G (p.Ser1741Gly)
12g.51806674A>TCA384884350SCN8Ac.5188A>T (p.Ser1730Cys)
c.3252A>T
c.5065A>T (p.Ser1689Cys)
c.5221A>T (p.Ser1741Cys)
12g.51806675G>ACA6571896SCN8Ac.5189G>A (p.Ser1730Asn)
c.3253G>A
c.5066G>A (p.Ser1689Asn)
c.5222G>A (p.Ser1741Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806675G>CCA384884356SCN8Ac.5189G>C (p.Ser1730Thr)
c.3253G>C
c.5066G>C (p.Ser1689Thr)
c.5222G>C (p.Ser1741Thr)
12g.51806675G=CA2036193504SCN8Ac.5189G= (p.Ser1730=)
c.3253G=
c.5066G= (p.Ser1689=)
c.5222G= (p.Ser1741=)
12g.51806675G>TCA384884362SCN8Ac.5189G>T (p.Ser1730Ile)
c.3253G>T
c.5066G>T (p.Ser1689Ile)
c.5222G>T (p.Ser1741Ile)
12g.51806676T>ACA384884368SCN8Ac.5190T>A (p.Ser1730Arg)
c.3254T>A
c.5067T>A (p.Ser1689Arg)
c.5223T>A (p.Ser1741Arg)
12g.51806676T>CCA480062203SCN8Ac.5190T>C (p.Ser1730=)
c.3254T>C
c.5067T>C (p.Ser1689=)
c.5223T>C (p.Ser1741=)
12g.51806676T>GCA384884371SCN8Ac.5190T>G (p.Ser1730Arg)
c.3254T>G
c.5067T>G (p.Ser1689Arg)
c.5223T>G (p.Ser1741Arg)
12g.51806677G>ACA384884377SCN8Ac.5191G>A (p.Gly1731Ser)
c.3255G>A
c.5068G>A (p.Gly1690Ser)
c.5224G>A (p.Gly1742Ser)
 gnomAD v4
12g.51806677G>CCA384884386SCN8Ac.5191G>C (p.Gly1731Arg)
c.3255G>C
c.5068G>C (p.Gly1690Arg)
c.5224G>C (p.Gly1742Arg)
12g.51806677G>TCA384884389SCN8Ac.5191G>T (p.Gly1731Cys)
c.3255G>T
c.5068G>T (p.Gly1690Cys)
c.5224G>T (p.Gly1742Cys)
12g.51806678G>ACA384884393SCN8Ac.5192G>A (p.Gly1731Asp)
c.3256G>A
c.5069G>A (p.Gly1690Asp)
c.5225G>A (p.Gly1742Asp)
12g.51806678G>CCA384884400SCN8Ac.5192G>C (p.Gly1731Ala)
c.3256G>C
c.5069G>C (p.Gly1690Ala)
c.5225G>C (p.Gly1742Ala)
 gnomAD v4
12g.51806678G>TCA384884397SCN8Ac.5192G>T (p.Gly1731Val)
c.3256G>T
c.5069G>T (p.Gly1690Val)
c.5225G>T (p.Gly1742Val)
12g.51806679C>ACA480062208SCN8Ac.5193C>A (p.Gly1731=)
c.3257C>A
c.5070C>A (p.Gly1690=)
c.5226C>A (p.Gly1742=)
12g.51806679C>GCA480062210SCN8Ac.5193C>G (p.Gly1731=)
c.3257C>G
c.5070C>G (p.Gly1690=)
c.5226C>G (p.Gly1742=)
12g.51806679C>TCA480062211SCN8Ac.5193C>T (p.Gly1731=)
c.3257C>T
c.5070C>T (p.Gly1690=)
c.5226C>T (p.Gly1742=)
12g.51806680T>ACA384884405SCN8Ac.5194T>A (p.Phe1732Ile)
c.3258T>A
c.5071T>A (p.Phe1691Ile)
c.5227T>A (p.Phe1743Ile)
12g.51806680T>CCA384884409SCN8Ac.5194T>C (p.Phe1732Leu)
c.3258T>C
c.5071T>C (p.Phe1691Leu)
c.5227T>C (p.Phe1743Leu)
12g.51806680T>GCA384884412SCN8Ac.5194T>G (p.Phe1732Val)
c.3258T>G
c.5071T>G (p.Phe1691Val)
c.5227T>G (p.Phe1743Val)
12g.51806681T>ACA384884421SCN8Ac.5195T>A (p.Phe1732Tyr)
c.3259T>A
c.5072T>A (p.Phe1691Tyr)
c.5228T>A (p.Phe1743Tyr)
12g.51806681T>CCA384884423SCN8Ac.5195T>C (p.Phe1732Ser)
c.3259T>C
c.5072T>C (p.Phe1691Ser)
c.5228T>C (p.Phe1743Ser)
12g.51806681T>GCA384884426SCN8Ac.5195T>G (p.Phe1732Cys)
c.3259T>G
c.5072T>G (p.Phe1691Cys)
c.5228T>G (p.Phe1743Cys)
12g.51806682T>ACA384884433SCN8Ac.5196T>A (p.Phe1732Leu)
c.3260T>A
c.5073T>A (p.Phe1691Leu)
c.5229T>A (p.Phe1743Leu)
12g.51806682T>CCA480062218SCN8Ac.5196T>C (p.Phe1732=)
c.3260T>C
c.5073T>C (p.Phe1691=)
c.5229T>C (p.Phe1743=)
12g.51806682T>GCA384884434SCN8Ac.5196T>G (p.Phe1732Leu)
c.3260T>G
c.5073T>G (p.Phe1691Leu)
c.5229T>G (p.Phe1743Leu)
 gnomAD v4
12g.51806683A=CA2036193507SCN8Ac.5197A= (p.Lys1733=)
c.3261A=
c.5074A= (p.Lys1692=)
c.5230A= (p.Lys1744=)
12g.51806683A>CCA384884435SCN8Ac.5197A>C (p.Lys1733Gln)
c.3261A>C
c.5074A>C (p.Lys1692Gln)
c.5230A>C (p.Lys1744Gln)
12g.51806683A>GCA384884436SCN8Ac.5197A>G (p.Lys1733Glu)
c.3261A>G
c.5074A>G (p.Lys1692Glu)
c.5230A>G (p.Lys1744Glu)
12g.51806683A>TCA384884439SCN8Ac.5197A>T (p.Lys1733Ter)
c.3261A>T
c.5074A>T (p.Lys1692Ter)
c.5230A>T (p.Lys1744Ter)
 dbSNP
12g.51806684A>CCA384884450SCN8Ac.5198A>C (p.Lys1733Thr)
c.3262A>C
c.5075A>C (p.Lys1692Thr)
c.5231A>C (p.Lys1744Thr)
12g.51806684A>GCA384884443SCN8Ac.5198A>G (p.Lys1733Arg)
c.3262A>G
c.5075A>G (p.Lys1692Arg)
c.5231A>G (p.Lys1744Arg)
12g.51806684A>TCA384884448SCN8Ac.5198A>T (p.Lys1733Met)
c.3262A>T
c.5075A>T (p.Lys1692Met)
c.5231A>T (p.Lys1744Met)
12g.51806685G>ACA480062225SCN8Ac.5199G>A (p.Lys1733=)
c.3263G>A
c.5076G>A (p.Lys1692=)
c.5232G>A (p.Lys1744=)
 COSMIC COSMIC
12g.51806685G>CCA384884455SCN8Ac.5199G>C (p.Lys1733Asn)
c.3263G>C
c.5076G>C (p.Lys1692Asn)
c.5232G>C (p.Lys1744Asn)
 dbSNP
12g.51806685G=CA2036193515SCN8Ac.5199G= (p.Lys1733=)
c.3263G=
c.5076G= (p.Lys1692=)
c.5232G= (p.Lys1744=)
12g.51806685G>TCA384884456SCN8Ac.5199G>T (p.Lys1733Asn)
c.3263G>T
c.5076G>T (p.Lys1692Asn)
c.5232G>T (p.Lys1744Asn)
12g.51806686G>ACA384884459SCN8Ac.5200G>A (p.Gly1734Arg)
c.3264G>A
c.5077G>A (p.Gly1693Arg)
c.5233G>A (p.Gly1745Arg)
12g.51806686G>CCA384884461SCN8Ac.5200G>C (p.Gly1734Arg)
c.3264G>C
c.5077G>C (p.Gly1693Arg)
c.5233G>C (p.Gly1745Arg)
12g.51806686G=CA2036193519SCN8Ac.5200G= (p.Gly1734=)
c.3264G=
c.5077G= (p.Gly1693=)
c.5233G= (p.Gly1745=)
12g.51806686G>TCA384884464SCN8Ac.5200G>T (p.Gly1734Ter)
c.3264G>T
c.5077G>T (p.Gly1693Ter)
c.5233G>T (p.Gly1745Ter)
 dbSNP
12g.51806687G>ACA384884472SCN8Ac.5201G>A (p.Gly1734Glu)
c.3265G>A
c.5078G>A (p.Gly1693Glu)
c.5234G>A (p.Gly1745Glu)
12g.51806687G>CCA384884474SCN8Ac.5201G>C (p.Gly1734Ala)
c.3265G>C
c.5078G>C (p.Gly1693Ala)
c.5234G>C (p.Gly1745Ala)
12g.51806687G>TCA384884477SCN8Ac.5201G>T (p.Gly1734Val)
c.3265G>T
c.5078G>T (p.Gly1693Val)
c.5234G>T (p.Gly1745Val)
12g.51806688A>CCA480062232SCN8Ac.5202A>C (p.Gly1734=)
c.3266A>C
c.5079A>C (p.Gly1693=)
c.5235A>C (p.Gly1745=)
 gnomAD v4
12g.51806688A>GCA480062234SCN8Ac.5202A>G (p.Gly1734=)
c.3266A>G
c.5079A>G (p.Gly1693=)
c.5235A>G (p.Gly1745=)
12g.51806688A>TCA480062235SCN8Ac.5202A>T (p.Gly1734=)
c.3266A>T
c.5079A>T (p.Gly1693=)
c.5235A>T (p.Gly1745=)
12g.51806689G>ACA384884482SCN8Ac.5203G>A (p.Asp1735Asn)
c.3267G>A
c.5080G>A (p.Asp1694Asn)
c.5236G>A (p.Asp1746Asn)
12g.51806689G>CCA384884494SCN8Ac.5203G>C (p.Asp1735His)
c.3267G>C
c.5080G>C (p.Asp1694His)
c.5236G>C (p.Asp1746His)
12g.51806689G>TCA384884498SCN8Ac.5203G>T (p.Asp1735Tyr)
c.3267G>T
c.5080G>T (p.Asp1694Tyr)
c.5236G>T (p.Asp1746Tyr)
12g.51806690A>CCA384884506SCN8Ac.5204A>C (p.Asp1735Ala)
c.3268A>C
c.5081A>C (p.Asp1694Ala)
c.5237A>C (p.Asp1746Ala)
12g.51806690A>GCA384884509SCN8Ac.5204A>G (p.Asp1735Gly)
c.3268A>G
c.5081A>G (p.Asp1694Gly)
c.5237A>G (p.Asp1746Gly)
12g.51806690A>TCA384884504SCN8Ac.5204A>T (p.Asp1735Val)
c.3268A>T
c.5081A>T (p.Asp1694Val)
c.5237A>T (p.Asp1746Val)
12g.51806691T>ACA384884518SCN8Ac.5205T>A (p.Asp1735Glu)
c.3269T>A
c.5082T>A (p.Asp1694Glu)
c.5238T>A (p.Asp1746Glu)
12g.51806691T>CCA6571897SCN8Ac.5205T>C (p.Asp1735=)
c.3269T>C
c.5082T>C (p.Asp1694=)
c.5238T>C (p.Asp1746=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806691T>GCA384884517SCN8Ac.5205T>G (p.Asp1735Glu)
c.3269T>G
c.5082T>G (p.Asp1694Glu)
c.5238T>G (p.Asp1746Glu)
12g.51806691T=CA2036193525SCN8Ac.5205T= (p.Asp1735=)
c.3269T=
c.5082T= (p.Asp1694=)
c.5238T= (p.Asp1746=)
12g.51806692T>ACA384884520SCN8Ac.5206T>A (p.Cys1736Ser)
c.3270T>A
c.5083T>A (p.Cys1695Ser)
c.5239T>A (p.Cys1747Ser)
12g.51806692T>CCA384884524SCN8Ac.5206T>C (p.Cys1736Arg)
c.3270T>C
c.5083T>C (p.Cys1695Arg)
c.5239T>C (p.Cys1747Arg)
12g.51806692T>GCA384884527SCN8Ac.5206T>G (p.Cys1736Gly)
c.3270T>G
c.5083T>G (p.Cys1695Gly)
c.5239T>G (p.Cys1747Gly)
12g.51806693G>ACA384884533SCN8Ac.5207G>A (p.Cys1736Tyr)
c.3271G>A
c.5084G>A (p.Cys1695Tyr)
c.5240G>A (p.Cys1747Tyr)
12g.51806693G>CCA384884534SCN8Ac.5207G>C (p.Cys1736Ser)
c.3271G>C
c.5084G>C (p.Cys1695Ser)
c.5240G>C (p.Cys1747Ser)
12g.51806693G=CA2036193529SCN8Ac.5207G= (p.Cys1736=)
c.3271G=
c.5084G= (p.Cys1695=)
c.5240G= (p.Cys1747=)
12g.51806693G>TCA6571898SCN8Ac.5207G>T (p.Cys1736Phe)
c.3271G>T
c.5084G>T (p.Cys1695Phe)
c.5240G>T (p.Cys1747Phe)
 dbSNP ExAC gnomAD v2
12g.51806694T>ACA384884540SCN8Ac.5208T>A (p.Cys1736Ter)
c.3272T>A
c.5085T>A (p.Cys1695Ter)
c.5241T>A (p.Cys1747Ter)
 dbSNP
12g.51806694T>CCA480062248SCN8Ac.5208T>C (p.Cys1736=)
c.3272T>C
c.5085T>C (p.Cys1695=)
c.5241T>C (p.Cys1747=)
12g.51806694T>GCA384884543SCN8Ac.5208T>G (p.Cys1736Trp)
c.3272T>G
c.5085T>G (p.Cys1695Trp)
c.5241T>G (p.Cys1747Trp)
12g.51806694T=CA2036193532SCN8Ac.5208T= (p.Cys1736=)
c.3272T=
c.5085T= (p.Cys1695=)
c.5241T= (p.Cys1747=)
12g.51806695G>ACA384884546SCN8Ac.5209G>A (p.Gly1737Arg)
c.3273G>A
c.5086G>A (p.Gly1696Arg)
c.5242G>A (p.Gly1748Arg)
12g.51806695G>CCA384884547SCN8Ac.5209G>C (p.Gly1737Arg)
c.3273G>C
c.5086G>C (p.Gly1696Arg)
c.5242G>C (p.Gly1748Arg)
12g.51806695G>TCA384884548SCN8Ac.5209G>T (p.Gly1737Trp)
c.3273G>T
c.5086G>T (p.Gly1696Trp)
c.5242G>T (p.Gly1748Trp)
12g.51806696G>ACA384884552SCN8Ac.5210G>A (p.Gly1737Glu)
c.3274G>A
c.5087G>A (p.Gly1696Glu)
c.5243G>A (p.Gly1748Glu)
12g.51806696G>CCA384884554SCN8Ac.5210G>C (p.Gly1737Ala)
c.3274G>C
c.5087G>C (p.Gly1696Ala)
c.5243G>C (p.Gly1748Ala)
12g.51806696G>TCA384884553SCN8Ac.5210G>T (p.Gly1737Val)
c.3274G>T
c.5087G>T (p.Gly1696Val)
c.5243G>T (p.Gly1748Val)
12g.51806697G>ACA480062255SCN8Ac.5211G>A (p.Gly1737=)
c.3275G>A
c.5088G>A (p.Gly1696=)
c.5244G>A (p.Gly1748=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51806697G>CCA480062259SCN8Ac.5211G>C (p.Gly1737=)
c.3275G>C
c.5088G>C (p.Gly1696=)
c.5244G>C (p.Gly1748=)
12g.51806697G=CA2036193535SCN8Ac.5211G= (p.Gly1737=)
c.3275G=
c.5088G= (p.Gly1696=)
c.5244G= (p.Gly1748=)
12g.51806697G>TCA480062256SCN8Ac.5211G>T (p.Gly1737=)
c.3275G>T
c.5088G>T (p.Gly1696=)
c.5244G>T (p.Gly1748=)
12g.51806698A>CCA384884555SCN8Ac.5212A>C (p.Asn1738His)
c.3276A>C
c.5089A>C (p.Asn1697His)
c.5245A>C (p.Asn1749His)
12g.51806698A>GCA384884557SCN8Ac.5212A>G (p.Asn1738Asp)
c.3276A>G
c.5089A>G (p.Asn1697Asp)
c.5245A>G (p.Asn1749Asp)
12g.51806698A>TCA384884560SCN8Ac.5212A>T (p.Asn1738Tyr)
c.3276A>T
c.5089A>T (p.Asn1697Tyr)
c.5245A>T (p.Asn1749Tyr)
12g.51806699A=CA2036193542SCN8Ac.5213A= (p.Asn1738=)
c.3277A=
c.5090A= (p.Asn1697=)
c.5246A= (p.Asn1749=)
12g.51806699A>CCA384884561SCN8Ac.5213A>C (p.Asn1738Thr)
c.3277A>C
c.5090A>C (p.Asn1697Thr)
c.5246A>C (p.Asn1749Thr)
12g.51806699A>GCA6571899SCN8Ac.5213A>G (p.Asn1738Ser)
c.3277A>G
c.5090A>G (p.Asn1697Ser)
c.5246A>G (p.Asn1749Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806699A>TCA384884564SCN8Ac.5213A>T (p.Asn1738Ile)
c.3277A>T
c.5090A>T (p.Asn1697Ile)
c.5246A>T (p.Asn1749Ile)
12g.51806700C>ACA384884567SCN8Ac.5214C>A (p.Asn1738Lys)
c.3278C>A
c.5091C>A (p.Asn1697Lys)
c.5247C>A (p.Asn1749Lys)
12g.51806700C>GCA384884568SCN8Ac.5214C>G (p.Asn1738Lys)
c.3278C>G
c.5091C>G (p.Asn1697Lys)
c.5247C>G (p.Asn1749Lys)
12g.51806700C>TCA480062267SCN8Ac.5214C>T (p.Asn1738=)
c.3278C>T
c.5091C>T (p.Asn1697=)
c.5247C>T (p.Asn1749=)
12g.51806701C>ACA384884571SCN8Ac.5215C>A (p.Pro1739Thr)
c.3279C>A
c.5092C>A (p.Pro1698Thr)
c.5248C>A (p.Pro1750Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.51806701C>GCA384884572SCN8Ac.5215C>G (p.Pro1739Ala)
c.3279C>G
c.5092C>G (p.Pro1698Ala)
c.5248C>G (p.Pro1750Ala)
12g.51806701C>TCA384884575SCN8Ac.5215C>T (p.Pro1739Ser)
c.3279C>T
c.5092C>T (p.Pro1698Ser)
c.5248C>T (p.Pro1750Ser)
12g.51806702C>ACA384884584SCN8Ac.5216C>A (p.Pro1739His)
c.3280C>A
c.5093C>A (p.Pro1698His)
c.5249C>A (p.Pro1750His)
12g.51806702C>GCA384884585SCN8Ac.5216C>G (p.Pro1739Arg)
c.3280C>G
c.5093C>G (p.Pro1698Arg)
c.5249C>G (p.Pro1750Arg)
12g.51806702C>TCA384884581SCN8Ac.5216C>T (p.Pro1739Leu)
c.3280C>T
c.5093C>T (p.Pro1698Leu)
c.5249C>T (p.Pro1750Leu)
 COSMIC COSMIC
12g.51806703C>ACA480062276SCN8Ac.5217C>A (p.Pro1739=)
c.3281C>A
c.5094C>A (p.Pro1698=)
c.5250C>A (p.Pro1750=)
12g.51806703C>GCA480062279SCN8Ac.5217C>G (p.Pro1739=)
c.3281C>G
c.5094C>G (p.Pro1698=)
c.5250C>G (p.Pro1750=)
12g.51806703C>TCA480062278SCN8Ac.5217C>T (p.Pro1739=)
c.3281C>T
c.5094C>T (p.Pro1698=)
c.5250C>T (p.Pro1750=)
12g.51806704T>ACA384884589SCN8Ac.5218T>A (p.Ser1740Thr)
c.3282T>A
c.5095T>A (p.Ser1699Thr)
c.5251T>A (p.Ser1751Thr)
12g.51806704T>CCA384884592SCN8Ac.5218T>C (p.Ser1740Pro)
c.3282T>C
c.5095T>C (p.Ser1699Pro)
c.5251T>C (p.Ser1751Pro)
12g.51806704T>GCA384884596SCN8Ac.5218T>G (p.Ser1740Ala)
c.3282T>G
c.5095T>G (p.Ser1699Ala)
c.5251T>G (p.Ser1751Ala)
12g.51806705C>ACA384884602SCN8Ac.5219C>A (p.Ser1740Ter)
c.3283C>A
c.5096C>A (p.Ser1699Ter)
c.5252C>A (p.Ser1751Ter)
12g.51806705C>GCA384884604SCN8Ac.5219C>G (p.Ser1740Ter)
c.3283C>G
c.5096C>G (p.Ser1699Ter)
c.5252C>G (p.Ser1751Ter)
12g.51806705C>TCA384884606SCN8Ac.5219C>T (p.Ser1740Leu)
c.3283C>T
c.5096C>T (p.Ser1699Leu)
c.5252C>T (p.Ser1751Leu)
12g.51806706A=CA2036193548SCN8Ac.5220A= (p.Ser1740=)
c.3284A=
c.5097A= (p.Ser1699=)
c.5253A= (p.Ser1751=)
12g.51806706A>CCA480061818SCN8Ac.5220A>C (p.Ser1740=)
c.3284A>C
c.5097A>C (p.Ser1699=)
c.5253A>C (p.Ser1751=)
12g.51806706A>GCA6571900SCN8Ac.5220A>G (p.Ser1740=)
c.3284A>G
c.5097A>G (p.Ser1699=)
c.5253A>G (p.Ser1751=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806706A>TCA480061820SCN8Ac.5220A>T (p.Ser1740=)
c.3284A>T
c.5097A>T (p.Ser1699=)
c.5253A>T (p.Ser1751=)
12g.51806707G>ACA384884612SCN8Ac.5221G>A (p.Val1741Met)
c.3285G>A
c.5098G>A (p.Val1700Met)
c.5254G>A (p.Val1752Met)
12g.51806707G>CCA384884614SCN8Ac.5221G>C (p.Val1741Leu)
c.3285G>C
c.5098G>C (p.Val1700Leu)
c.5254G>C (p.Val1752Leu)
12g.51806707G>TCA384884616SCN8Ac.5221G>T (p.Val1741Leu)
c.3285G>T
c.5098G>T (p.Val1700Leu)
c.5254G>T (p.Val1752Leu)
12g.51806708T>ACA384884621SCN8Ac.5222T>A (p.Val1741Glu)
c.3286T>A
c.5099T>A (p.Val1700Glu)
c.5255T>A (p.Val1752Glu)
12g.51806708T>CCA384884624SCN8Ac.5222T>C (p.Val1741Ala)
c.3286T>C
c.5099T>C (p.Val1700Ala)
c.5255T>C (p.Val1752Ala)
12g.51806708T>GCA384884626SCN8Ac.5222T>G (p.Val1741Gly)
c.3286T>G
c.5099T>G (p.Val1700Gly)
c.5255T>G (p.Val1752Gly)
12g.51806709G>ACA480061822SCN8Ac.5223G>A (p.Val1741=)
c.3287G>A
c.5100G>A (p.Val1700=)
c.5256G>A (p.Val1752=)
12g.51806709G>CCA480061823SCN8Ac.5223G>C (p.Val1741=)
c.3287G>C
c.5100G>C (p.Val1700=)
c.5256G>C (p.Val1752=)
12g.51806709G>TCA480061824SCN8Ac.5223G>T (p.Val1741=)
c.3287G>T
c.5100G>T (p.Val1700=)
c.5256G>T (p.Val1752=)
12g.51806710G>ACA384884633SCN8Ac.5224G>A (p.Gly1742Ser)
c.3288G>A
c.5101G>A (p.Gly1701Ser)
c.5257G>A (p.Gly1753Ser)
12g.51806710G>CCA384884632SCN8Ac.5224G>C (p.Gly1742Arg)
c.3288G>C
c.5101G>C (p.Gly1701Arg)
c.5257G>C (p.Gly1753Arg)
 COSMIC COSMIC
12g.51806710G>TCA384884629SCN8Ac.5224G>T (p.Gly1742Cys)
c.3288G>T
c.5101G>T (p.Gly1701Cys)
c.5257G>T (p.Gly1753Cys)
12g.51806711G>ACA384884634SCN8Ac.5225G>A (p.Gly1742Asp)
c.3289G>A
c.5102G>A (p.Gly1701Asp)
c.5258G>A (p.Gly1753Asp)
12g.51806711G>CCA384884637SCN8Ac.5225G>C (p.Gly1742Ala)
c.3289G>C
c.5102G>C (p.Gly1701Ala)
c.5258G>C (p.Gly1753Ala)
 ClinVar dbSNP
12g.51806711G>TCA384884640SCN8Ac.5225G>T (p.Gly1742Val)
c.3289G>T
c.5102G>T (p.Gly1701Val)
c.5258G>T (p.Gly1753Val)
12g.51806712C>ACA480061830SCN8Ac.5226C>A (p.Gly1742=)
c.3290C>A
c.5103C>A (p.Gly1701=)
c.5259C>A (p.Gly1753=)
12g.51806712C>GCA480061827SCN8Ac.5226C>G (p.Gly1742=)
c.3290C>G
c.5103C>G (p.Gly1701=)
c.5259C>G (p.Gly1753=)
12g.51806712C>TCA480061829SCN8Ac.5226C>T (p.Gly1742=)
c.3290C>T
c.5103C>T (p.Gly1701=)
c.5259C>T (p.Gly1753=)
 gnomAD v4
12g.51806713A=CA2036193556SCN8Ac.5227A= (p.Ile1743=)
c.3291A=
c.5104A= (p.Ile1702=)
c.5260A= (p.Ile1754=)
12g.51806713A>CCA384884646SCN8Ac.5227A>C (p.Ile1743Leu)
c.3291A>C
c.5104A>C (p.Ile1702Leu)
c.5260A>C (p.Ile1754Leu)
12g.51806713A>GCA6571901SCN8Ac.5227A>G (p.Ile1743Val)
c.3291A>G
c.5104A>G (p.Ile1702Val)
c.5260A>G (p.Ile1754Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806713A>TCA384884648SCN8Ac.5227A>T (p.Ile1743Phe)
c.3291A>T
c.5104A>T (p.Ile1702Phe)
c.5260A>T (p.Ile1754Phe)
12g.51806713_51806716delinsATCTCA2036193560SCN8Ac.5227_5230delinsATCT (p.Ile1743=)
c.3291_3294delinsATCT
c.5104_5107delinsATCT (p.Ile1702=)
c.5260_5263delinsATCT (p.Ile1754=)
12g.51806714T>ACA384884651SCN8Ac.5228T>A (p.Ile1743Asn)
c.3292T>A
c.5105T>A (p.Ile1702Asn)
c.5261T>A (p.Ile1754Asn)
12g.51806714T>CCA384884662SCN8Ac.5228T>C (p.Ile1743Thr)
c.3292T>C
c.5105T>C (p.Ile1702Thr)
c.5261T>C (p.Ile1754Thr)
12g.51806714T>GCA384884665SCN8Ac.5228T>G (p.Ile1743Ser)
c.3292T>G
c.5105T>G (p.Ile1702Ser)
c.5261T>G (p.Ile1754Ser)
12g.51806721_51806723delCA605238641SCN8Ac.5235_5237del (p.Phe1746del)
c.3299_3301del
c.5112_5114del (p.Phe1705del)
c.5268_5270del (p.Phe1757del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51806715C>ACA6571902SCN8Ac.5229C>A (p.Ile1743=)
c.3293C>A
c.5106C>A (p.Ile1702=)
c.5262C>A (p.Ile1754=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806715C=CA2036193575SCN8Ac.5229C= (p.Ile1743=)
c.3293C=
c.5106C= (p.Ile1702=)
c.5262C= (p.Ile1754=)
12g.51806715C>GCA384884671SCN8Ac.5229C>G (p.Ile1743Met)
c.3293C>G
c.5106C>G (p.Ile1702Met)
c.5262C>G (p.Ile1754Met)
12g.51806715C>TCA480061834SCN8Ac.5229C>T (p.Ile1743=)
c.3293C>T
c.5106C>T (p.Ile1702=)
c.5262C>T (p.Ile1754=)
12g.51806716T>ACA384884674SCN8Ac.5230T>A (p.Phe1744Ile)
c.3294T>A
c.5107T>A (p.Phe1703Ile)
c.5263T>A (p.Phe1755Ile)
 dbSNP gnomAD v4
12g.51806716T>CCA384884676SCN8Ac.5230T>C (p.Phe1744Leu)
c.3294T>C
c.5107T>C (p.Phe1703Leu)
c.5263T>C (p.Phe1755Leu)
12g.51806716T>GCA384884689SCN8Ac.5230T>G (p.Phe1744Val)
c.3294T>G
c.5107T>G (p.Phe1703Val)
c.5263T>G (p.Phe1755Val)
12g.51806716T=CA2036193584SCN8Ac.5230T= (p.Phe1744=)
c.3294T=
c.5107T= (p.Phe1703=)
c.5263T= (p.Phe1755=)
12g.51806717T>ACA384884697SCN8Ac.5231T>A (p.Phe1744Tyr)
c.3295T>A
c.5108T>A (p.Phe1703Tyr)
c.5264T>A (p.Phe1755Tyr)
12g.51806717T>CCA384884694SCN8Ac.5231T>C (p.Phe1744Ser)
c.3295T>C
c.5108T>C (p.Phe1703Ser)
c.5264T>C (p.Phe1755Ser)
12g.51806717T>GCA384884692SCN8Ac.5231T>G (p.Phe1744Cys)
c.3295T>G
c.5108T>G (p.Phe1703Cys)
c.5264T>G (p.Phe1755Cys)
12g.51806718C>ACA384884702SCN8Ac.5232C>A (p.Phe1744Leu)
c.3296C>A
c.5109C>A (p.Phe1703Leu)
c.5265C>A (p.Phe1755Leu)
12g.51806718C=CA2036193587SCN8Ac.5232C= (p.Phe1744=)
c.3296C=
c.5109C= (p.Phe1703=)
c.5265C= (p.Phe1755=)
12g.51806718C>GCA384884701SCN8Ac.5232C>G (p.Phe1744Leu)
c.3296C>G
c.5109C>G (p.Phe1703Leu)
c.5265C>G (p.Phe1755Leu)
12g.51806718C>TCA480061839SCN8Ac.5232C>T (p.Phe1744=)
c.3296C>T
c.5109C>T (p.Phe1703=)
c.5265C>T (p.Phe1755=)
 ClinVar dbSNP
12g.51806719T>ACA384884707SCN8Ac.5233T>A (p.Phe1745Ile)
c.3297T>A
c.5110T>A (p.Phe1704Ile)
c.5266T>A (p.Phe1756Ile)
12g.51806719T>CCA384884712SCN8Ac.5233T>C (p.Phe1745Leu)
c.3297T>C
c.5110T>C (p.Phe1704Leu)
c.5266T>C (p.Phe1756Leu)
12g.51806719T>GCA384884715SCN8Ac.5233T>G (p.Phe1745Val)
c.3297T>G
c.5110T>G (p.Phe1704Val)
c.5266T>G (p.Phe1756Val)
12g.51806720T>ACA384884721SCN8Ac.5234T>A (p.Phe1745Tyr)
c.3298T>A
c.5111T>A (p.Phe1704Tyr)
c.5267T>A (p.Phe1756Tyr)
12g.51806720T>CCA384884725SCN8Ac.5234T>C (p.Phe1745Ser)
c.3298T>C
c.5111T>C (p.Phe1704Ser)
c.5267T>C (p.Phe1756Ser)
12g.51806720T>GCA384884727SCN8Ac.5234T>G (p.Phe1745Cys)
c.3298T>G
c.5111T>G (p.Phe1704Cys)
c.5267T>G (p.Phe1756Cys)
12g.51806721C>ACA384884742SCN8Ac.5235C>A (p.Phe1745Leu)
c.3299C>A
c.5112C>A (p.Phe1704Leu)
c.5268C>A (p.Phe1756Leu)
12g.51806721C>GCA384884748SCN8Ac.5235C>G (p.Phe1745Leu)
c.3299C>G
c.5112C>G (p.Phe1704Leu)
c.5268C>G (p.Phe1756Leu)
 gnomAD v4
12g.51806721C>TCA480061841SCN8Ac.5235C>T (p.Phe1745=)
c.3299C>T
c.5112C>T (p.Phe1704=)
c.5268C>T (p.Phe1756=)
12g.51806722T>ACA384884750SCN8Ac.5236T>A (p.Phe1746Ile)
c.3300T>A
c.5113T>A (p.Phe1705Ile)
c.5269T>A (p.Phe1757Ile)
12g.51806722T>CCA384884753SCN8Ac.5236T>C (p.Phe1746Leu)
c.3300T>C
c.5113T>C (p.Phe1705Leu)
c.5269T>C (p.Phe1757Leu)
12g.51806722T>GCA384884772SCN8Ac.5236T>G (p.Phe1746Val)
c.3300T>G
c.5113T>G (p.Phe1705Val)
c.5269T>G (p.Phe1757Val)
12g.51806723T>ACA384884779SCN8Ac.5237T>A (p.Phe1746Tyr)
c.3301T>A
c.5114T>A (p.Phe1705Tyr)
c.5270T>A (p.Phe1757Tyr)
12g.51806723T>CCA384884784SCN8Ac.5237T>C (p.Phe1746Ser)
c.3301T>C
c.5114T>C (p.Phe1705Ser)
c.5270T>C (p.Phe1757Ser)
12g.51806723T>GCA384884788SCN8Ac.5237T>G (p.Phe1746Cys)
c.3301T>G
c.5114T>G (p.Phe1705Cys)
c.5270T>G (p.Phe1757Cys)

Number of alleles fetched