Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806754T>ACA480061916SCN8Ac.5268T>A (p.Ile1756=)
c.3332T>A
c.5145T>A (p.Ile1715=)
c.5301T>A (p.Ile1767=)
12g.51806754T>CCA480061917SCN8Ac.5268T>C (p.Ile1756=)
c.3332T>C
c.5145T>C (p.Ile1715=)
c.5301T>C (p.Ile1767=)
12g.51806754T>GCA384885084SCN8Ac.5268T>G (p.Ile1756Met)
c.3332T>G
c.5145T>G (p.Ile1715Met)
c.5301T>G (p.Ile1767Met)
12g.51806755G>ACA384885087SCN8Ac.5269G>A (p.Val1757Ile)
c.3333G>A
c.5146G>A (p.Val1716Ile)
c.5302G>A (p.Val1768Ile)
 ClinVar dbSNP
12g.51806755G>CCA384885090SCN8Ac.5269G>C (p.Val1757Leu)
c.3333G>C
c.5146G>C (p.Val1716Leu)
c.5302G>C (p.Val1768Leu)
12g.51806755G=CA2036193639SCN8Ac.5269G= (p.Val1757=)
c.3333G=
c.5146G= (p.Val1716=)
c.5302G= (p.Val1768=)
12g.51806755G>TCA384885093SCN8Ac.5269G>T (p.Val1757Phe)
c.3333G>T
c.5146G>T (p.Val1716Phe)
c.5302G>T (p.Val1768Phe)
12g.51806756T>ACA384885096SCN8Ac.5270T>A (p.Val1757Asp)
c.3334T>A
c.5147T>A (p.Val1716Asp)
c.5303T>A (p.Val1768Asp)
 ClinVar dbSNP
12g.51806756T>CCA384885110SCN8Ac.5270T>C (p.Val1757Ala)
c.3334T>C
c.5147T>C (p.Val1716Ala)
c.5303T>C (p.Val1768Ala)
12g.51806756T>GCA384885112SCN8Ac.5270T>G (p.Val1757Gly)
c.3334T>G
c.5147T>G (p.Val1716Gly)
c.5303T>G (p.Val1768Gly)
12g.51806756T=CA2036193656SCN8Ac.5270T= (p.Val1757=)
c.3334T=
c.5147T= (p.Val1716=)
c.5303T= (p.Val1768=)
12g.51806757C>ACA480061922SCN8Ac.5271C>A (p.Val1757=)
c.3335C>A
c.5148C>A (p.Val1716=)
c.5304C>A (p.Val1768=)
12g.51806757C=CA2036193665SCN8Ac.5271C= (p.Val1757=)
c.3335C=
c.5148C= (p.Val1716=)
c.5304C= (p.Val1768=)
12g.51806757C>GCA480061923SCN8Ac.5271C>G (p.Val1757=)
c.3335C>G
c.5148C>G (p.Val1716=)
c.5304C>G (p.Val1768=)
12g.51806757C>TCA6571904SCN8Ac.5271C>T (p.Val1757=)
c.3335C>T
c.5148C>T (p.Val1716=)
c.5304C>T (p.Val1768=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51806758G>ACA384885121SCN8Ac.5272G>A (p.Val1758Met)
c.3336G>A
c.5149G>A (p.Val1717Met)
c.5305G>A (p.Val1769Met)
 ClinVar dbSNP gnomAD v4
12g.51806758G>CCA384885124SCN8Ac.5272G>C (p.Val1758Leu)
c.3336G>C
c.5149G>C (p.Val1717Leu)
c.5305G>C (p.Val1769Leu)
12g.51806758G=CA2036193674SCN8Ac.5272G= (p.Val1758=)
c.3336G=
c.5149G= (p.Val1717=)
c.5305G= (p.Val1769=)
12g.51806758G>TCA384885116SCN8Ac.5272G>T (p.Val1758Leu)
c.3336G>T
c.5149G>T (p.Val1717Leu)
c.5305G>T (p.Val1769Leu)
12g.51806759T>ACA384885131SCN8Ac.5273T>A (p.Val1758Glu)
c.3337T>A
c.5150T>A (p.Val1717Glu)
c.5306T>A (p.Val1769Glu)
12g.51806759T>CCA384885133SCN8Ac.5273T>C (p.Val1758Ala)
c.3337T>C
c.5150T>C (p.Val1717Ala)
c.5306T>C (p.Val1769Ala)
12g.51806759T>GCA384885134SCN8Ac.5273T>G (p.Val1758Gly)
c.3337T>G
c.5150T>G (p.Val1717Gly)
c.5306T>G (p.Val1769Gly)
12g.51806760G>ACA480061929SCN8Ac.5274G>A (p.Val1758=)
c.3338G>A
c.5151G>A (p.Val1717=)
c.5307G>A (p.Val1769=)
12g.51806760G>CCA480061931SCN8Ac.5274G>C (p.Val1758=)
c.3338G>C
c.5151G>C (p.Val1717=)
c.5307G>C (p.Val1769=)
12g.51806760G>TCA480061930SCN8Ac.5274G>T (p.Val1758=)
c.3338G>T
c.5151G>T (p.Val1717=)
c.5307G>T (p.Val1769=)
12g.51806761A>CCA384885136SCN8Ac.5275A>C (p.Asn1759His)
c.3339A>C
c.5152A>C (p.Asn1718His)
c.5308A>C (p.Asn1770His)
12g.51806761A>GCA384885137SCN8Ac.5275A>G (p.Asn1759Asp)
c.3339A>G
c.5152A>G (p.Asn1718Asp)
c.5308A>G (p.Asn1770Asp)
12g.51806761A>TCA384885138SCN8Ac.5275A>T (p.Asn1759Tyr)
c.3339A>T
c.5152A>T (p.Asn1718Tyr)
c.5308A>T (p.Asn1770Tyr)
12g.51806762A=CA2036193679SCN8Ac.5276A= (p.Asn1759=)
c.3340A=
c.5153A= (p.Asn1718=)
c.5309A= (p.Asn1770=)
12g.51806762A>CCA384885145SCN8Ac.5276A>C (p.Asn1759Thr)
c.3340A>C
c.5153A>C (p.Asn1718Thr)
c.5309A>C (p.Asn1770Thr)
12g.51806762A>GCA354191SCN8Ac.5276A>G (p.Asn1759Ser)
c.3340A>G
c.5153A>G (p.Asn1718Ser)
c.5309A>G (p.Asn1770Ser)
 ClinVar dbSNP
12g.51806762A>TCA384885143SCN8Ac.5276A>T (p.Asn1759Ile)
c.3340A>T
c.5153A>T (p.Asn1718Ile)
c.5309A>T (p.Asn1770Ile)
12g.51806763C>ACA384885150SCN8Ac.5277C>A (p.Asn1759Lys)
c.3341C>A
c.5154C>A (p.Asn1718Lys)
c.5310C>A (p.Asn1770Lys)
12g.51806763C>GCA384885151SCN8Ac.5277C>G (p.Asn1759Lys)
c.3341C>G
c.5154C>G (p.Asn1718Lys)
c.5310C>G (p.Asn1770Lys)
12g.51806763C>TCA480061934SCN8Ac.5277C>T (p.Asn1759=)
c.3341C>T
c.5154C>T (p.Asn1718=)
c.5310C>T (p.Asn1770=)
12g.51806764A=CA2036193689SCN8Ac.5278A= (p.Met1760=)
c.3342A=
c.5155A= (p.Met1719=)
c.5311A= (p.Met1771=)
12g.51806764A>CCA384885152SCN8Ac.5278A>C (p.Met1760Leu)
c.3342A>C
c.5155A>C (p.Met1719Leu)
c.5311A>C (p.Met1771Leu)
12g.51806764A>GCA384885154SCN8Ac.5278A>G (p.Met1760Val)
c.3342A>G
c.5155A>G (p.Met1719Val)
c.5311A>G (p.Met1771Val)
 ClinVar dbSNP
12g.51806764A>TCA384885156SCN8Ac.5278A>T (p.Met1760Leu)
c.3342A>T
c.5155A>T (p.Met1719Leu)
c.5311A>T (p.Met1771Leu)
12g.51806765T>ACA384885157SCN8Ac.5279T>A (p.Met1760Lys)
c.3343T>A
c.5156T>A (p.Met1719Lys)
c.5312T>A (p.Met1771Lys)
12g.51806765T>CCA384885161SCN8Ac.5279T>C (p.Met1760Thr)
c.3343T>C
c.5156T>C (p.Met1719Thr)
c.5312T>C (p.Met1771Thr)
 ClinVar dbSNP
12g.51806765T>GCA384885158SCN8Ac.5279T>G (p.Met1760Arg)
c.3343T>G
c.5156T>G (p.Met1719Arg)
c.5312T>G (p.Met1771Arg)
12g.51806765T=CA2036193699SCN8Ac.5279T= (p.Met1760=)
c.3343T=
c.5156T= (p.Met1719=)
c.5312T= (p.Met1771=)
12g.51806766G>ACA384885163SCN8Ac.5280G>A (p.Met1760Ile)
c.3344G>A
c.5157G>A (p.Met1719Ile)
c.5313G>A (p.Met1771Ile)
 ClinVar dbSNP
12g.51806766G>CCA384885164SCN8Ac.5280G>C (p.Met1760Ile)
c.3344G>C
c.5157G>C (p.Met1719Ile)
c.5313G>C (p.Met1771Ile)
 COSMIC COSMIC
12g.51806766G=CA2036193711SCN8Ac.5280G= (p.Met1760=)
c.3344G=
c.5157G= (p.Met1719=)
c.5313G= (p.Met1771=)
12g.51806766G>TCA384885165SCN8Ac.5280G>T (p.Met1760Ile)
c.3344G>T
c.5157G>T (p.Met1719Ile)
c.5313G>T (p.Met1771Ile)
12g.51806767T>ACA384885168SCN8Ac.5281T>A (p.Tyr1761Asn)
c.3345T>A
c.5158T>A (p.Tyr1720Asn)
c.5314T>A (p.Tyr1772Asn)
12g.51806767T>CCA384885170SCN8Ac.5281T>C (p.Tyr1761His)
c.3345T>C
c.5158T>C (p.Tyr1720His)
c.5314T>C (p.Tyr1772His)
12g.51806767T>GCA384885171SCN8Ac.5281T>G (p.Tyr1761Asp)
c.3345T>G
c.5158T>G (p.Tyr1720Asp)
c.5314T>G (p.Tyr1772Asp)
12g.51806768A>CCA384885172SCN8Ac.5282A>C (p.Tyr1761Ser)
c.3346A>C
c.5159A>C (p.Tyr1720Ser)
c.5315A>C (p.Tyr1772Ser)
12g.51806768A>GCA384885173SCN8Ac.5282A>G (p.Tyr1761Cys)
c.3346A>G
c.5159A>G (p.Tyr1720Cys)
c.5315A>G (p.Tyr1772Cys)
 gnomAD v4
12g.51806768A>TCA384885174SCN8Ac.5282A>T (p.Tyr1761Phe)
c.3346A>T
c.5159A>T (p.Tyr1720Phe)
c.5315A>T (p.Tyr1772Phe)
12g.51806769C>ACA384885177SCN8Ac.5283C>A (p.Tyr1761Ter)
c.3347C>A
c.5160C>A (p.Tyr1720Ter)
c.5316C>A (p.Tyr1772Ter)
12g.51806769C=CA2036193718SCN8Ac.5283C= (p.Tyr1761=)
c.3347C=
c.5160C= (p.Tyr1720=)
c.5316C= (p.Tyr1772=)
12g.51806769C>GCA384885179SCN8Ac.5283C>G (p.Tyr1761Ter)
c.3347C>G
c.5160C>G (p.Tyr1720Ter)
c.5316C>G (p.Tyr1772Ter)
12g.51806769C>TCA6571905SCN8Ac.5283C>T (p.Tyr1761=)
c.3347C>T
c.5160C>T (p.Tyr1720=)
c.5316C>T (p.Tyr1772=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806770A>CCA384885184SCN8Ac.5284A>C (p.Ile1762Leu)
c.3348A>C
c.5161A>C (p.Ile1721Leu)
c.5317A>C (p.Ile1773Leu)
 ClinVar
12g.51806770A>GCA384885188SCN8Ac.5284A>G (p.Ile1762Val)
c.3348A>G
c.5161A>G (p.Ile1721Val)
c.5317A>G (p.Ile1773Val)
 ClinVar
12g.51806770A>TCA384885186SCN8Ac.5284A>T (p.Ile1762Phe)
c.3348A>T
c.5161A>T (p.Ile1721Phe)
c.5317A>T (p.Ile1773Phe)
 ClinVar dbSNP
12g.51806771T>ACA384885191SCN8Ac.5285T>A (p.Ile1762Asn)
c.3349T>A
c.5162T>A (p.Ile1721Asn)
c.5318T>A (p.Ile1773Asn)
12g.51806771T>CCA384885193SCN8Ac.5285T>C (p.Ile1762Thr)
c.3349T>C
c.5162T>C (p.Ile1721Thr)
c.5318T>C (p.Ile1773Thr)
12g.51806771T>GCA384885192SCN8Ac.5285T>G (p.Ile1762Ser)
c.3349T>G
c.5162T>G (p.Ile1721Ser)
c.5318T>G (p.Ile1773Ser)
12g.51806772T>ACA480061948SCN8Ac.5286T>A (p.Ile1762=)
c.3350T>A
c.5163T>A (p.Ile1721=)
c.5319T>A (p.Ile1773=)
12g.51806772T>CCA480061950SCN8Ac.5286T>C (p.Ile1762=)
c.3350T>C
c.5163T>C (p.Ile1721=)
c.5319T>C (p.Ile1773=)
12g.51806772T>GCA384885194SCN8Ac.5286T>G (p.Ile1762Met)
c.3350T>G
c.5163T>G (p.Ile1721Met)
c.5319T>G (p.Ile1773Met)
12g.51806773G>ACA384885195SCN8Ac.5287G>A (p.Ala1763Thr)
c.3351G>A
c.5164G>A (p.Ala1722Thr)
c.5320G>A (p.Ala1774Thr)
12g.51806773G>CCA384885196SCN8Ac.5287G>C (p.Ala1763Pro)
c.3351G>C
c.5164G>C (p.Ala1722Pro)
c.5320G>C (p.Ala1774Pro)
12g.51806773G>TCA384885197SCN8Ac.5287G>T (p.Ala1763Ser)
c.3351G>T
c.5164G>T (p.Ala1722Ser)
c.5320G>T (p.Ala1774Ser)
12g.51806774C>ACA384885198SCN8Ac.5288C>A (p.Ala1763Asp)
c.3352C>A
c.5165C>A (p.Ala1722Asp)
c.5321C>A (p.Ala1774Asp)
12g.51806774C>GCA384885199SCN8Ac.5288C>G (p.Ala1763Gly)
c.3352C>G
c.5165C>G (p.Ala1722Gly)
c.5321C>G (p.Ala1774Gly)
12g.51806774C>TCA384885200SCN8Ac.5288C>T (p.Ala1763Val)
c.3352C>T
c.5165C>T (p.Ala1722Val)
c.5321C>T (p.Ala1774Val)
12g.51806775C>ACA480061956SCN8Ac.5289C>A (p.Ala1763=)
c.3353C>A
c.5166C>A (p.Ala1722=)
c.5322C>A (p.Ala1774=)
12g.51806775C>GCA480061954SCN8Ac.5289C>G (p.Ala1763=)
c.3353C>G
c.5166C>G (p.Ala1722=)
c.5322C>G (p.Ala1774=)
12g.51806775C>TCA480061955SCN8Ac.5289C>T (p.Ala1763=)
c.3353C>T
c.5166C>T (p.Ala1722=)
c.5322C>T (p.Ala1774=)
 gnomAD v4
12g.51806776A>CCA384885201SCN8Ac.5290A>C (p.Ile1764Leu)
c.3354A>C
c.5167A>C (p.Ile1723Leu)
c.5323A>C (p.Ile1775Leu)
12g.51806776A>GCA384885203SCN8Ac.5290A>G (p.Ile1764Val)
c.3354A>G
c.5167A>G (p.Ile1723Val)
c.5323A>G (p.Ile1775Val)
12g.51806776A>TCA384885202SCN8Ac.5290A>T (p.Ile1764Phe)
c.3354A>T
c.5167A>T (p.Ile1723Phe)
c.5323A>T (p.Ile1775Phe)
 COSMIC COSMIC
12g.51806777T>ACA384885204SCN8Ac.5291T>A (p.Ile1764Asn)
c.3355T>A
c.5168T>A (p.Ile1723Asn)
c.5324T>A (p.Ile1775Asn)
12g.51806777T>CCA236327543SCN8Ac.5291T>C (p.Ile1764Thr)
c.3355T>C
c.5168T>C (p.Ile1723Thr)
c.5324T>C (p.Ile1775Thr)
 ClinVar dbSNP
12g.51806777T>GCA384885205SCN8Ac.5291T>G (p.Ile1764Ser)
c.3355T>G
c.5168T>G (p.Ile1723Ser)
c.5324T>G (p.Ile1775Ser)
12g.51806777T=CA2036193722SCN8Ac.5291T= (p.Ile1764=)
c.3355T=
c.5168T= (p.Ile1723=)
c.5324T= (p.Ile1775=)
12g.51806778C>ACA480061962SCN8Ac.5292C>A (p.Ile1764=)
c.3356C>A
c.5169C>A (p.Ile1723=)
c.5325C>A (p.Ile1775=)
12g.51806778C>GCA384885206SCN8Ac.5292C>G (p.Ile1764Met)
c.3356C>G
c.5169C>G (p.Ile1723Met)
c.5325C>G (p.Ile1775Met)
12g.51806778C>TCA480061964SCN8Ac.5292C>T (p.Ile1764=)
c.3356C>T
c.5169C>T (p.Ile1723=)
c.5325C>T (p.Ile1775=)
12g.51806779A>CCA384885207SCN8Ac.5293A>C (p.Ile1765Leu)
c.3357A>C
c.5170A>C (p.Ile1724Leu)
c.5326A>C (p.Ile1776Leu)
12g.51806779A>GCA384885209SCN8Ac.5293A>G (p.Ile1765Val)
c.3357A>G
c.5170A>G (p.Ile1724Val)
c.5326A>G (p.Ile1776Val)
12g.51806779A>TCA384885208SCN8Ac.5293A>T (p.Ile1765Phe)
c.3357A>T
c.5170A>T (p.Ile1724Phe)
c.5326A>T (p.Ile1776Phe)
12g.51806780T>ACA384885210SCN8Ac.5294T>A (p.Ile1765Asn)
c.3358T>A
c.5171T>A (p.Ile1724Asn)
c.5327T>A (p.Ile1776Asn)
12g.51806780T>CCA384885211SCN8Ac.5294T>C (p.Ile1765Thr)
c.3358T>C
c.5171T>C (p.Ile1724Thr)
c.5327T>C (p.Ile1776Thr)
12g.51806780T>GCA384885212SCN8Ac.5294T>G (p.Ile1765Ser)
c.3358T>G
c.5171T>G (p.Ile1724Ser)
c.5327T>G (p.Ile1776Ser)
12g.51806781C>ACA480061967SCN8Ac.5295C>A (p.Ile1765=)
c.3359C>A
c.5172C>A (p.Ile1724=)
c.5328C>A (p.Ile1776=)
12g.51806781C=CA2036193736SCN8Ac.5295C= (p.Ile1765=)
c.3359C=
c.5172C= (p.Ile1724=)
c.5328C= (p.Ile1776=)
12g.51806781C>GCA384885213SCN8Ac.5295C>G (p.Ile1765Met)
c.3359C>G
c.5172C>G (p.Ile1724Met)
c.5328C>G (p.Ile1776Met)
12g.51806781C>TCA6571906SCN8Ac.5295C>T (p.Ile1765=)
c.3359C>T
c.5172C>T (p.Ile1724=)
c.5328C>T (p.Ile1776=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806782C>ACA384885214SCN8Ac.5296C>A (p.Leu1766Met)
c.3360C>A
c.5173C>A (p.Leu1725Met)
c.5329C>A (p.Leu1777Met)
12g.51806782C>GCA384885215SCN8Ac.5296C>G (p.Leu1766Val)
c.3360C>G
c.5173C>G (p.Leu1725Val)
c.5329C>G (p.Leu1777Val)
12g.51806782C>TCA480061972SCN8Ac.5296C>T (p.Leu1766=)
c.3360C>T
c.5173C>T (p.Leu1725=)
c.5329C>T (p.Leu1777=)
12g.51806783T>ACA384885216SCN8Ac.5297T>A (p.Leu1766Gln)
c.3361T>A
c.5174T>A (p.Leu1725Gln)
c.5330T>A (p.Leu1777Gln)
12g.51806783T>CCA384885217SCN8Ac.5297T>C (p.Leu1766Pro)
c.3361T>C
c.5174T>C (p.Leu1725Pro)
c.5330T>C (p.Leu1777Pro)
12g.51806783T>GCA384885218SCN8Ac.5297T>G (p.Leu1766Arg)
c.3361T>G
c.5174T>G (p.Leu1725Arg)
c.5330T>G (p.Leu1777Arg)
 ClinVar dbSNP
12g.51806783T=CA2036193739SCN8Ac.5297T= (p.Leu1766=)
c.3361T=
c.5174T= (p.Leu1725=)
c.5330T= (p.Leu1777=)
12g.51806784G>ACA6571907SCN8Ac.5298G>A (p.Leu1766=)
c.3362G>A
c.5175G>A (p.Leu1725=)
c.5331G>A (p.Leu1777=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806784G>CCA480061975SCN8Ac.5298G>C (p.Leu1766=)
c.3362G>C
c.5175G>C (p.Leu1725=)
c.5331G>C (p.Leu1777=)
12g.51806784G=CA2036193741SCN8Ac.5298G= (p.Leu1766=)
c.3362G=
c.5175G= (p.Leu1725=)
c.5331G= (p.Leu1777=)
12g.51806784G>TCA480061976SCN8Ac.5298G>T (p.Leu1766=)
c.3362G>T
c.5175G>T (p.Leu1725=)
c.5331G>T (p.Leu1777=)
12g.51806785G>ACA384885219SCN8Ac.5299G>A (p.Glu1767Lys)
c.3363G>A
c.5176G>A (p.Glu1726Lys)
c.5332G>A (p.Glu1778Lys)
12g.51806785G>CCA384885221SCN8Ac.5299G>C (p.Glu1767Gln)
c.3363G>C
c.5176G>C (p.Glu1726Gln)
c.5332G>C (p.Glu1778Gln)
12g.51806785G=CA2036193746SCN8Ac.5299G= (p.Glu1767=)
c.3363G=
c.5176G= (p.Glu1726=)
c.5332G= (p.Glu1778=)
12g.51806785G>TCA384885220SCN8Ac.5299G>T (p.Glu1767Ter)
c.3363G>T
c.5176G>T (p.Glu1726Ter)
c.5332G>T (p.Glu1778Ter)
 dbSNP
12g.51806786A>CCA384885222SCN8Ac.5300A>C (p.Glu1767Ala)
c.3364A>C
c.5177A>C (p.Glu1726Ala)
c.5333A>C (p.Glu1778Ala)
12g.51806786A>GCA384885223SCN8Ac.5300A>G (p.Glu1767Gly)
c.3364A>G
c.5177A>G (p.Glu1726Gly)
c.5333A>G (p.Glu1778Gly)
12g.51806786A>TCA384885224SCN8Ac.5300A>T (p.Glu1767Val)
c.3364A>T
c.5177A>T (p.Glu1726Val)
c.5333A>T (p.Glu1778Val)
12g.51806787G>ACA480061979SCN8Ac.5301G>A (p.Glu1767=)
c.3365G>A
c.5178G>A (p.Glu1726=)
c.5334G>A (p.Glu1778=)
12g.51806787G>CCA384885225SCN8Ac.5301G>C (p.Glu1767Asp)
c.3365G>C
c.5178G>C (p.Glu1726Asp)
c.5334G>C (p.Glu1778Asp)
12g.51806787G>TCA384885226SCN8Ac.5301G>T (p.Glu1767Asp)
c.3365G>T
c.5178G>T (p.Glu1726Asp)
c.5334G>T (p.Glu1778Asp)
12g.51806788A=CA2036193753SCN8Ac.5302A= (p.Asn1768=)
c.3366A=
c.5179A= (p.Asn1727=)
c.5335A= (p.Asn1779=)
12g.51806788A>CCA384885227SCN8Ac.5302A>C (p.Asn1768His)
c.3366A>C
c.5179A>C (p.Asn1727His)
c.5335A>C (p.Asn1779His)
12g.51806788A>GCA128948SCN8Ac.5302A>G (p.Asn1768Asp)
c.3366A>G
c.5179A>G (p.Asn1727Asp)
c.5335A>G (p.Asn1779Asp)
 ClinVar dbSNP
12g.51806788A>TCA384885228SCN8Ac.5302A>T (p.Asn1768Tyr)
c.3366A>T
c.5179A>T (p.Asn1727Tyr)
c.5335A>T (p.Asn1779Tyr)
12g.51806789A>CCA384885229SCN8Ac.5303A>C (p.Asn1768Thr)
c.3367A>C
c.5180A>C (p.Asn1727Thr)
c.5336A>C (p.Asn1779Thr)
12g.51806789A>GCA384885230SCN8Ac.5303A>G (p.Asn1768Ser)
c.3367A>G
c.5180A>G (p.Asn1727Ser)
c.5336A>G (p.Asn1779Ser)
12g.51806789A>TCA384885231SCN8Ac.5303A>T (p.Asn1768Ile)
c.3367A>T
c.5180A>T (p.Asn1727Ile)
c.5336A>T (p.Asn1779Ile)
12g.51806790C>ACA384885233SCN8Ac.5304C>A (p.Asn1768Lys)
c.3368C>A
c.5181C>A (p.Asn1727Lys)
c.5337C>A (p.Asn1779Lys)
12g.51806790C=CA2036193763SCN8Ac.5304C= (p.Asn1768=)
c.3368C=
c.5181C= (p.Asn1727=)
c.5337C= (p.Asn1779=)
12g.51806790C>GCA384885232SCN8Ac.5304C>G (p.Asn1768Lys)
c.3368C>G
c.5181C>G (p.Asn1727Lys)
c.5337C>G (p.Asn1779Lys)
12g.51806790C>TCA6571908SCN8Ac.5304C>T (p.Asn1768=)
c.3368C>T
c.5181C>T (p.Asn1727=)
c.5337C>T (p.Asn1779=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806791T>ACA384885234SCN8Ac.5305T>A (p.Phe1769Ile)
c.3369T>A
c.5182T>A (p.Phe1728Ile)
c.5338T>A (p.Phe1780Ile)
12g.51806791T>CCA384885235SCN8Ac.5305T>C (p.Phe1769Leu)
c.3369T>C
c.5182T>C (p.Phe1728Leu)
c.5338T>C (p.Phe1780Leu)
 ClinVar dbSNP
12g.51806791T>GCA384885236SCN8Ac.5305T>G (p.Phe1769Val)
c.3369T>G
c.5182T>G (p.Phe1728Val)
c.5338T>G (p.Phe1780Val)
12g.51806792T>ACA384885237SCN8Ac.5306T>A (p.Phe1769Tyr)
c.3370T>A
c.5183T>A (p.Phe1728Tyr)
c.5339T>A (p.Phe1780Tyr)
12g.51806792T>CCA384885238SCN8Ac.5306T>C (p.Phe1769Ser)
c.3370T>C
c.5183T>C (p.Phe1728Ser)
c.5339T>C (p.Phe1780Ser)
12g.51806792T>GCA384885239SCN8Ac.5306T>G (p.Phe1769Cys)
c.3370T>G
c.5183T>G (p.Phe1728Cys)
c.5339T>G (p.Phe1780Cys)
 ClinVar
12g.51806793C>ACA384885240SCN8Ac.5307C>A (p.Phe1769Leu)
c.3371C>A
c.5184C>A (p.Phe1728Leu)
c.5340C>A (p.Phe1780Leu)
 ClinVar
12g.51806793C>GCA384885241SCN8Ac.5307C>G (p.Phe1769Leu)
c.3371C>G
c.5184C>G (p.Phe1728Leu)
c.5340C>G (p.Phe1780Leu)
12g.51806793C>TCA480061997SCN8Ac.5307C>T (p.Phe1769=)
c.3371C>T
c.5184C>T (p.Phe1728=)
c.5340C>T (p.Phe1780=)
12g.51806794A>CCA384885245SCN8Ac.5308A>C (p.Ser1770Arg)
c.3372A>C
c.5185A>C (p.Ser1729Arg)
c.5341A>C (p.Ser1781Arg)
12g.51806794A>GCA384885246SCN8Ac.5308A>G (p.Ser1770Gly)
c.3372A>G
c.5185A>G (p.Ser1729Gly)
c.5341A>G (p.Ser1781Gly)
12g.51806794A>TCA384885248SCN8Ac.5308A>T (p.Ser1770Cys)
c.3372A>T
c.5185A>T (p.Ser1729Cys)
c.5341A>T (p.Ser1781Cys)
12g.51806795G>ACA384885253SCN8Ac.5309G>A (p.Ser1770Asn)
c.3373G>A
c.5186G>A (p.Ser1729Asn)
c.5342G>A (p.Ser1781Asn)
12g.51806795G>CCA384885255SCN8Ac.5309G>C (p.Ser1770Thr)
c.3373G>C
c.5186G>C (p.Ser1729Thr)
c.5342G>C (p.Ser1781Thr)
12g.51806795G>TCA384885251SCN8Ac.5309G>T (p.Ser1770Ile)
c.3373G>T
c.5186G>T (p.Ser1729Ile)
c.5342G>T (p.Ser1781Ile)
12g.51806796T>ACA384885260SCN8Ac.5310T>A (p.Ser1770Arg)
c.3374T>A
c.5187T>A (p.Ser1729Arg)
c.5343T>A (p.Ser1781Arg)
12g.51806796T>CCA480062003SCN8Ac.5310T>C (p.Ser1770=)
c.3374T>C
c.5187T>C (p.Ser1729=)
c.5343T>C (p.Ser1781=)
 dbSNP gnomAD v2 gnomAD v4
12g.51806796T>GCA384885258SCN8Ac.5310T>G (p.Ser1770Arg)
c.3374T>G
c.5187T>G (p.Ser1729Arg)
c.5343T>G (p.Ser1781Arg)
12g.51806796T=CA2036193777SCN8Ac.5310T= (p.Ser1770=)
c.3374T=
c.5187T= (p.Ser1729=)
c.5343T= (p.Ser1781=)
12g.51806797G>ACA384885264SCN8Ac.5311G>A (p.Val1771Ile)
c.3375G>A
c.5188G>A (p.Val1730Ile)
c.5344G>A (p.Val1782Ile)
 ClinVar
12g.51806797G>CCA384885266SCN8Ac.5311G>C (p.Val1771Leu)
c.3375G>C
c.5188G>C (p.Val1730Leu)
c.5344G>C (p.Val1782Leu)
12g.51806797G>TCA384885267SCN8Ac.5311G>T (p.Val1771Leu)
c.3375G>T
c.5188G>T (p.Val1730Leu)
c.5344G>T (p.Val1782Leu)
12g.51806798T>ACA384885268SCN8Ac.5312T>A (p.Val1771Glu)
c.3376T>A
c.5189T>A (p.Val1730Glu)
c.5345T>A (p.Val1782Glu)
12g.51806798T>CCA384885269SCN8Ac.5312T>C (p.Val1771Ala)
c.3376T>C
c.5189T>C (p.Val1730Ala)
c.5345T>C (p.Val1782Ala)
12g.51806798T>GCA384885271SCN8Ac.5312T>G (p.Val1771Gly)
c.3376T>G
c.5189T>G (p.Val1730Gly)
c.5345T>G (p.Val1782Gly)
12g.51806799A=CA2036193779SCN8Ac.5313A= (p.Val1771=)
c.3377A=
c.5190A= (p.Val1730=)
c.5346A= (p.Val1782=)
12g.51806799A>CCA480062005SCN8Ac.5313A>C (p.Val1771=)
c.3377A>C
c.5190A>C (p.Val1730=)
c.5346A>C (p.Val1782=)
 ClinVar dbSNP
12g.51806799A>GCA236327585SCN8Ac.5313A>G (p.Val1771=)
c.3377A>G
c.5190A>G (p.Val1730=)
c.5346A>G (p.Val1782=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806799A>TCA480062006SCN8Ac.5313A>T (p.Val1771=)
c.3377A>T
c.5190A>T (p.Val1730=)
c.5346A>T (p.Val1782=)
12g.51806800G>ACA384885272SCN8Ac.5314G>A (p.Ala1772Thr)
c.3378G>A
c.5191G>A (p.Ala1731Thr)
c.5347G>A (p.Ala1783Thr)
12g.51806800G>CCA384885274SCN8Ac.5314G>C (p.Ala1772Pro)
c.3378G>C
c.5191G>C (p.Ala1731Pro)
c.5347G>C (p.Ala1783Pro)
12g.51806800G>TCA384885276SCN8Ac.5314G>T (p.Ala1772Ser)
c.3378G>T
c.5191G>T (p.Ala1731Ser)
c.5347G>T (p.Ala1783Ser)
12g.51806801C>ACA384885279SCN8Ac.5315C>A (p.Ala1772Asp)
c.3379C>A
c.5192C>A (p.Ala1731Asp)
c.5348C>A (p.Ala1783Asp)
 ClinVar
12g.51806801C>GCA384885281SCN8Ac.5315C>G (p.Ala1772Gly)
c.3379C>G
c.5192C>G (p.Ala1731Gly)
c.5348C>G (p.Ala1783Gly)
12g.51806801C>TCA384885282SCN8Ac.5315C>T (p.Ala1772Val)
c.3379C>T
c.5192C>T (p.Ala1731Val)
c.5348C>T (p.Ala1783Val)
12g.51806802C>ACA480062009SCN8Ac.5316C>A (p.Ala1772=)
c.3380C>A
c.5193C>A (p.Ala1731=)
c.5349C>A (p.Ala1783=)
12g.51806802C>GCA480062011SCN8Ac.5316C>G (p.Ala1772=)
c.3380C>G
c.5193C>G (p.Ala1731=)
c.5349C>G (p.Ala1783=)
12g.51806802C>TCA480062012SCN8Ac.5316C>T (p.Ala1772=)
c.3380C>T
c.5193C>T (p.Ala1731=)
c.5349C>T (p.Ala1783=)
12g.51806803A>CCA384885283SCN8Ac.5317A>C (p.Thr1773Pro)
c.3381A>C
c.5194A>C (p.Thr1732Pro)
c.5350A>C (p.Thr1784Pro)
12g.51806803A>GCA384885287SCN8Ac.5317A>G (p.Thr1773Ala)
c.3381A>G
c.5194A>G (p.Thr1732Ala)
c.5350A>G (p.Thr1784Ala)
12g.51806803A>TCA384885284SCN8Ac.5317A>T (p.Thr1773Ser)
c.3381A>T
c.5194A>T (p.Thr1732Ser)
c.5350A>T (p.Thr1784Ser)
12g.51806804C>ACA384885289SCN8Ac.5318C>A (p.Thr1773Lys)
c.3382C>A
c.5195C>A (p.Thr1732Lys)
c.5351C>A (p.Thr1784Lys)
12g.51806804C>GCA384885291SCN8Ac.5318C>G (p.Thr1773Arg)
c.3382C>G
c.5195C>G (p.Thr1732Arg)
c.5351C>G (p.Thr1784Arg)
12g.51806804C>TCA384885294SCN8Ac.5318C>T (p.Thr1773Ile)
c.3382C>T
c.5195C>T (p.Thr1732Ile)
c.5351C>T (p.Thr1784Ile)
12g.51806808_51806819delCA2695216657SCN8Ac.5322_5333del (p.Glu1774_Ala1777del)
c.3386_3397del
c.5199_5210del (p.Glu1733_Ala1736del)
c.5355_5366del (p.Glu1785_Ala1788del)
12g.51806805A>CCA480062017SCN8Ac.5319A>C (p.Thr1773=)
c.3383A>C
c.5196A>C (p.Thr1732=)
c.5352A>C (p.Thr1784=)
12g.51806805A>GCA480062019SCN8Ac.5319A>G (p.Thr1773=)
c.3383A>G
c.5196A>G (p.Thr1732=)
c.5352A>G (p.Thr1784=)
12g.51806805A>TCA480062020SCN8Ac.5319A>T (p.Thr1773=)
c.3383A>T
c.5196A>T (p.Thr1732=)
c.5352A>T (p.Thr1784=)
12g.51806806G>ACA384885298SCN8Ac.5320G>A (p.Glu1774Lys)
c.3384G>A
c.5197G>A (p.Glu1733Lys)
c.5353G>A (p.Glu1785Lys)
12g.51806806G>CCA384885300SCN8Ac.5320G>C (p.Glu1774Gln)
c.3384G>C
c.5197G>C (p.Glu1733Gln)
c.5353G>C (p.Glu1785Gln)
12g.51806806G=CA2036193784SCN8Ac.5320G= (p.Glu1774=)
c.3384G=
c.5197G= (p.Glu1733=)
c.5353G= (p.Glu1785=)
12g.51806806G>TCA384885302SCN8Ac.5320G>T (p.Glu1774Ter)
c.3384G>T
c.5197G>T (p.Glu1733Ter)
c.5353G>T (p.Glu1785Ter)
 dbSNP
12g.51806807A>CCA384885305SCN8Ac.5321A>C (p.Glu1774Ala)
c.3385A>C
c.5198A>C (p.Glu1733Ala)
c.5354A>C (p.Glu1785Ala)
12g.51806807A>GCA384885306SCN8Ac.5321A>G (p.Glu1774Gly)
c.3385A>G
c.5198A>G (p.Glu1733Gly)
c.5354A>G (p.Glu1785Gly)
12g.51806807A>TCA384885307SCN8Ac.5321A>T (p.Glu1774Val)
c.3385A>T
c.5198A>T (p.Glu1733Val)
c.5354A>T (p.Glu1785Val)
12g.51806808G>ACA480062027SCN8Ac.5322G>A (p.Glu1774=)
c.3386G>A
c.5199G>A (p.Glu1733=)
c.5355G>A (p.Glu1785=)
 dbSNP gnomAD v2 gnomAD v4
12g.51806808G>CCA384885309SCN8Ac.5322G>C (p.Glu1774Asp)
c.3386G>C
c.5199G>C (p.Glu1733Asp)
c.5355G>C (p.Glu1785Asp)
12g.51806808G=CA2036193794SCN8Ac.5322G= (p.Glu1774=)
c.3386G=
c.5199G= (p.Glu1733=)
c.5355G= (p.Glu1785=)
12g.51806808G>TCA384885311SCN8Ac.5322G>T (p.Glu1774Asp)
c.3386G>T
c.5199G>T (p.Glu1733Asp)
c.5355G>T (p.Glu1785Asp)
12g.51806809G>ACA384885316SCN8Ac.5323G>A (p.Glu1775Lys)
c.3387G>A
c.5200G>A (p.Glu1734Lys)
c.5356G>A (p.Glu1786Lys)
 COSMIC COSMIC
12g.51806809G>CCA384885319SCN8Ac.5323G>C (p.Glu1775Gln)
c.3387G>C
c.5200G>C (p.Glu1734Gln)
c.5356G>C (p.Glu1786Gln)
12g.51806809G=CA2036193808SCN8Ac.5323G= (p.Glu1775=)
c.3387G=
c.5200G= (p.Glu1734=)
c.5356G= (p.Glu1786=)
12g.51806809G>TCA384885315SCN8Ac.5323G>T (p.Glu1775Ter)
c.3387G>T
c.5200G>T (p.Glu1734Ter)
c.5356G>T (p.Glu1786Ter)
 dbSNP
12g.51806810A>CCA384885323SCN8Ac.5324A>C (p.Glu1775Ala)
c.3388A>C
c.5201A>C (p.Glu1734Ala)
c.5357A>C (p.Glu1786Ala)
12g.51806810A>GCA384885325SCN8Ac.5324A>G (p.Glu1775Gly)
c.3388A>G
c.5201A>G (p.Glu1734Gly)
c.5357A>G (p.Glu1786Gly)
12g.51806810A>TCA384885327SCN8Ac.5324A>T (p.Glu1775Val)
c.3388A>T
c.5201A>T (p.Glu1734Val)
c.5357A>T (p.Glu1786Val)
12g.51806812delCA2618841628SCN8Ac.5326del (p.Ser1776ValfsTer5)
c.3390del
c.5203del (p.Ser1735ValfsTer5)
c.5359del (p.Ser1787ValfsTer5)
 gnomAD v4
12g.51806811A>CCA384885330SCN8Ac.5325A>C (p.Glu1775Asp)
c.3389A>C
c.5202A>C (p.Glu1734Asp)
c.5358A>C (p.Glu1786Asp)
12g.51806811A>GCA480062035SCN8Ac.5325A>G (p.Glu1775=)
c.3389A>G
c.5202A>G (p.Glu1734=)
c.5358A>G (p.Glu1786=)
12g.51806811A>TCA384885332SCN8Ac.5325A>T (p.Glu1775Asp)
c.3389A>T
c.5202A>T (p.Glu1734Asp)
c.5358A>T (p.Glu1786Asp)
12g.51806812A>CCA384885335SCN8Ac.5326A>C (p.Ser1776Arg)
c.3390A>C
c.5203A>C (p.Ser1735Arg)
c.5359A>C (p.Ser1787Arg)
12g.51806812A>GCA384885337SCN8Ac.5326A>G (p.Ser1776Gly)
c.3390A>G
c.5203A>G (p.Ser1735Gly)
c.5359A>G (p.Ser1787Gly)
12g.51806812A>TCA384885338SCN8Ac.5326A>T (p.Ser1776Cys)
c.3390A>T
c.5203A>T (p.Ser1735Cys)
c.5359A>T (p.Ser1787Cys)
12g.51806816_51806830delCA2739272037SCN8Ac.5330_5344del (p.Ala1777_Ser1781del)
c.3394_3408del
c.5207_5221del (p.Ala1736_Ser1740del)
c.5363_5377del (p.Ala1788_Ser1792del)
 ClinVar
12g.51806813G>ACA384885341SCN8Ac.5327G>A (p.Ser1776Asn)
c.3391G>A
c.5204G>A (p.Ser1735Asn)
c.5360G>A (p.Ser1787Asn)
12g.51806813G>CCA384885343SCN8Ac.5327G>C (p.Ser1776Thr)
c.3391G>C
c.5204G>C (p.Ser1735Thr)
c.5360G>C (p.Ser1787Thr)
 gnomAD v4
12g.51806813G>TCA384885346SCN8Ac.5327G>T (p.Ser1776Ile)
c.3391G>T
c.5204G>T (p.Ser1735Ile)
c.5360G>T (p.Ser1787Ile)
12g.51806814T>ACA384885349SCN8Ac.5328T>A (p.Ser1776Arg)
c.3392T>A
c.5205T>A (p.Ser1735Arg)
c.5361T>A (p.Ser1787Arg)
12g.51806814T>CCA480062046SCN8Ac.5328T>C (p.Ser1776=)
c.3392T>C
c.5205T>C (p.Ser1735=)
c.5361T>C (p.Ser1787=)
 gnomAD v4
12g.51806814T>GCA384885351SCN8Ac.5328T>G (p.Ser1776Arg)
c.3392T>G
c.5205T>G (p.Ser1735Arg)
c.5361T>G (p.Ser1787Arg)
 gnomAD v4
12g.51806815G>ACA6571909SCN8Ac.5329G>A (p.Ala1777Thr)
c.3393G>A
c.5206G>A (p.Ala1736Thr)
c.5362G>A (p.Ala1788Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806815G>CCA384885355SCN8Ac.5329G>C (p.Ala1777Pro)
c.3393G>C
c.5206G>C (p.Ala1736Pro)
c.5362G>C (p.Ala1788Pro)
12g.51806815G=CA2036193819SCN8Ac.5329G= (p.Ala1777=)
c.3393G=
c.5206G= (p.Ala1736=)
c.5362G= (p.Ala1788=)
12g.51806815G>TCA384885354SCN8Ac.5329G>T (p.Ala1777Ser)
c.3393G>T
c.5206G>T (p.Ala1736Ser)
c.5362G>T (p.Ala1788Ser)
12g.51806816C>ACA384885358SCN8Ac.5330C>A (p.Ala1777Glu)
c.3394C>A
c.5207C>A (p.Ala1736Glu)
c.5363C>A (p.Ala1788Glu)
12g.51806816C>GCA384885361SCN8Ac.5330C>G (p.Ala1777Gly)
c.3394C>G
c.5207C>G (p.Ala1736Gly)
c.5363C>G (p.Ala1788Gly)
 dbSNP
12g.51806816C>TCA384885363SCN8Ac.5330C>T (p.Ala1777Val)
c.3394C>T
c.5207C>T (p.Ala1736Val)
c.5363C>T (p.Ala1788Val)
12g.51806817A=CA2036193824SCN8Ac.5331A= (p.Ala1777=)
c.3395A=
c.5208A= (p.Ala1736=)
c.5364A= (p.Ala1788=)
12g.51806817A>CCA480062054SCN8Ac.5331A>C (p.Ala1777=)
c.3395A>C
c.5208A>C (p.Ala1736=)
c.5364A>C (p.Ala1788=)
12g.51806817A>GCA480062051SCN8Ac.5331A>G (p.Ala1777=)
c.3395A>G
c.5208A>G (p.Ala1736=)
c.5364A>G (p.Ala1788=)
 dbSNP gnomAD v2 gnomAD v4
12g.51806817A>TCA480062050SCN8Ac.5331A>T (p.Ala1777=)
c.3395A>T
c.5208A>T (p.Ala1736=)
c.5364A>T (p.Ala1788=)
12g.51806818G>ACA384885367SCN8Ac.5332G>A (p.Asp1778Asn)
c.3396G>A
c.5209G>A (p.Asp1737Asn)
c.5365G>A (p.Asp1789Asn)
12g.51806818G>CCA384885368SCN8Ac.5332G>C (p.Asp1778His)
c.3396G>C
c.5209G>C (p.Asp1737His)
c.5365G>C (p.Asp1789His)
 gnomAD v4
12g.51806818G>TCA384885371SCN8Ac.5332G>T (p.Asp1778Tyr)
c.3396G>T
c.5209G>T (p.Asp1737Tyr)
c.5365G>T (p.Asp1789Tyr)
12g.51806819A=CA2036193830SCN8Ac.5333A= (p.Asp1778=)
c.3397A=
c.5210A= (p.Asp1737=)
c.5366A= (p.Asp1789=)
12g.51806819A>CCA384885374SCN8Ac.5333A>C (p.Asp1778Ala)
c.3397A>C
c.5210A>C (p.Asp1737Ala)
c.5366A>C (p.Asp1789Ala)
12g.51806819A>GCA384885376SCN8Ac.5333A>G (p.Asp1778Gly)
c.3397A>G
c.5210A>G (p.Asp1737Gly)
c.5366A>G (p.Asp1789Gly)
 ClinVar dbSNP
12g.51806819A>TCA384885378SCN8Ac.5333A>T (p.Asp1778Val)
c.3397A>T
c.5210A>T (p.Asp1737Val)
c.5366A>T (p.Asp1789Val)
12g.51806820C>ACA384885381SCN8Ac.5334C>A (p.Asp1778Glu)
c.3398C>A
c.5211C>A (p.Asp1737Glu)
c.5367C>A (p.Asp1789Glu)
12g.51806820C=CA2036193833SCN8Ac.5334C= (p.Asp1778=)
c.3398C=
c.5211C= (p.Asp1737=)
c.5367C= (p.Asp1789=)
12g.51806820C>GCA384885384SCN8Ac.5334C>G (p.Asp1778Glu)
c.3398C>G
c.5211C>G (p.Asp1737Glu)
c.5367C>G (p.Asp1789Glu)
12g.51806820C>TCA480062058SCN8Ac.5334C>T (p.Asp1778=)
c.3398C>T
c.5211C>T (p.Asp1737=)
c.5367C>T (p.Asp1789=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806821C>ACA384885386SCN8Ac.5335C>A (p.Pro1779Thr)
c.3399C>A
c.5212C>A (p.Pro1738Thr)
c.5368C>A (p.Pro1790Thr)
12g.51806821C>GCA384885389SCN8Ac.5335C>G (p.Pro1779Ala)
c.3399C>G
c.5212C>G (p.Pro1738Ala)
c.5368C>G (p.Pro1790Ala)
12g.51806821C>TCA384885391SCN8Ac.5335C>T (p.Pro1779Ser)
c.3399C>T
c.5212C>T (p.Pro1738Ser)
c.5368C>T (p.Pro1790Ser)
 gnomAD v4
12g.51806822C>ACA384885396SCN8Ac.5336C>A (p.Pro1779His)
c.3400C>A
c.5213C>A (p.Pro1738His)
c.5369C>A (p.Pro1790His)
12g.51806822C=CA2036193841SCN8Ac.5336C= (p.Pro1779=)
c.3400C=
c.5213C= (p.Pro1738=)
c.5369C= (p.Pro1790=)
12g.51806822C>GCA384885399SCN8Ac.5336C>G (p.Pro1779Arg)
c.3400C>G
c.5213C>G (p.Pro1738Arg)
c.5369C>G (p.Pro1790Arg)
12g.51806822C>TCA384885394SCN8Ac.5336C>T (p.Pro1779Leu)
c.3400C>T
c.5213C>T (p.Pro1738Leu)
c.5369C>T (p.Pro1790Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.51806823T>ACA480062062SCN8Ac.5337T>A (p.Pro1779=)
c.3401T>A
c.5214T>A (p.Pro1738=)
c.5370T>A (p.Pro1790=)
12g.51806823T>CCA480062064SCN8Ac.5337T>C (p.Pro1779=)
c.3401T>C
c.5214T>C (p.Pro1738=)
c.5370T>C (p.Pro1790=)
12g.51806823T>GCA480062063SCN8Ac.5337T>G (p.Pro1779=)
c.3401T>G
c.5214T>G (p.Pro1738=)
c.5370T>G (p.Pro1790=)
12g.51806824C>ACA384885402SCN8Ac.5338C>A (p.Leu1780Met)
c.3402C>A
c.5215C>A (p.Leu1739Met)
c.5371C>A (p.Leu1791Met)
12g.51806824C>GCA384885404SCN8Ac.5338C>G (p.Leu1780Val)
c.3402C>G
c.5215C>G (p.Leu1739Val)
c.5371C>G (p.Leu1791Val)
12g.51806824C>TCA480062065SCN8Ac.5338C>T (p.Leu1780=)
c.3402C>T
c.5215C>T (p.Leu1739=)
c.5371C>T (p.Leu1791=)
12g.51806825T>ACA384885407SCN8Ac.5339T>A (p.Leu1780Gln)
c.3403T>A
c.5216T>A (p.Leu1739Gln)
c.5372T>A (p.Leu1791Gln)
12g.51806825T>CCA384885410SCN8Ac.5339T>C (p.Leu1780Pro)
c.3403T>C
c.5216T>C (p.Leu1739Pro)
c.5372T>C (p.Leu1791Pro)
12g.51806825T>GCA384885412SCN8Ac.5339T>G (p.Leu1780Arg)
c.3403T>G
c.5216T>G (p.Leu1739Arg)
c.5372T>G (p.Leu1791Arg)
12g.51806826G>ACA480062068SCN8Ac.5340G>A (p.Leu1780=)
c.3404G>A
c.5217G>A (p.Leu1739=)
c.5373G>A (p.Leu1791=)
 gnomAD v4
12g.51806826G>CCA480062069SCN8Ac.5340G>C (p.Leu1780=)
c.3404G>C
c.5217G>C (p.Leu1739=)
c.5373G>C (p.Leu1791=)
12g.51806826G>TCA480062070SCN8Ac.5340G>T (p.Leu1780=)
c.3404G>T
c.5217G>T (p.Leu1739=)
c.5373G>T (p.Leu1791=)
12g.51806827A>CCA384885416SCN8Ac.5341A>C (p.Ser1781Arg)
c.3405A>C
c.5218A>C (p.Ser1740Arg)
c.5374A>C (p.Ser1792Arg)
12g.51806827A>GCA384885417SCN8Ac.5341A>G (p.Ser1781Gly)
c.3405A>G
c.5218A>G (p.Ser1740Gly)
c.5374A>G (p.Ser1792Gly)
12g.51806827A>TCA384885420SCN8Ac.5341A>T (p.Ser1781Cys)
c.3405A>T
c.5218A>T (p.Ser1740Cys)
c.5374A>T (p.Ser1792Cys)
12g.51806828G>ACA384885422SCN8Ac.5342G>A (p.Ser1781Asn)
c.3406G>A
c.5219G>A (p.Ser1740Asn)
c.5375G>A (p.Ser1792Asn)
12g.51806828G>CCA384885425SCN8Ac.5342G>C (p.Ser1781Thr)
c.3406G>C
c.5219G>C (p.Ser1740Thr)
c.5375G>C (p.Ser1792Thr)
12g.51806828G>TCA384885427SCN8Ac.5342G>T (p.Ser1781Ile)
c.3406G>T
c.5219G>T (p.Ser1740Ile)
c.5375G>T (p.Ser1792Ile)
12g.51806829T>ACA384885431SCN8Ac.5343T>A (p.Ser1781Arg)
c.3407T>A
c.5220T>A (p.Ser1740Arg)
c.5376T>A (p.Ser1792Arg)
12g.51806829T>CCA6571910SCN8Ac.5343T>C (p.Ser1781=)
c.3407T>C
c.5220T>C (p.Ser1740=)
c.5376T>C (p.Ser1792=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806829T>GCA384885435SCN8Ac.5343T>G (p.Ser1781Arg)
c.3407T>G
c.5220T>G (p.Ser1740Arg)
c.5376T>G (p.Ser1792Arg)
12g.51806829T=CA2036193844SCN8Ac.5343T= (p.Ser1781=)
c.3407T=
c.5220T= (p.Ser1740=)
c.5376T= (p.Ser1792=)
12g.51806830G>ACA384885440SCN8Ac.5344G>A (p.Glu1782Lys)
c.3408G>A
c.5221G>A (p.Glu1741Lys)
c.5377G>A (p.Glu1793Lys)
12g.51806830G>CCA384885438SCN8Ac.5344G>C (p.Glu1782Gln)
c.3408G>C
c.5221G>C (p.Glu1741Gln)
c.5377G>C (p.Glu1793Gln)
12g.51806830G=CA2036193846SCN8Ac.5344G= (p.Glu1782=)
c.3408G=
c.5221G= (p.Glu1741=)
c.5377G= (p.Glu1793=)
12g.51806830G>TCA384885437SCN8Ac.5344G>T (p.Glu1782Ter)
c.3408G>T
c.5221G>T (p.Glu1741Ter)
c.5377G>T (p.Glu1793Ter)
 dbSNP
12g.51806831A>CCA384885443SCN8Ac.5345A>C (p.Glu1782Ala)
c.3409A>C
c.5222A>C (p.Glu1741Ala)
c.5378A>C (p.Glu1793Ala)
12g.51806831A>GCA384885445SCN8Ac.5345A>G (p.Glu1782Gly)
c.3409A>G
c.5222A>G (p.Glu1741Gly)
c.5378A>G (p.Glu1793Gly)
12g.51806831A>TCA384885447SCN8Ac.5345A>T (p.Glu1782Val)
c.3409A>T
c.5222A>T (p.Glu1741Val)
c.5378A>T (p.Glu1793Val)
12g.51806832G>ACA480062080SCN8Ac.5346G>A (p.Glu1782=)
c.3410G>A
c.5223G>A (p.Glu1741=)
c.5379G>A (p.Glu1793=)
 gnomAD v4
12g.51806832G>CCA384885449SCN8Ac.5346G>C (p.Glu1782Asp)
c.3410G>C
c.5223G>C (p.Glu1741Asp)
c.5379G>C (p.Glu1793Asp)
12g.51806832G>TCA384885451SCN8Ac.5346G>T (p.Glu1782Asp)
c.3410G>T
c.5223G>T (p.Glu1741Asp)
c.5379G>T (p.Glu1793Asp)
12g.51806833G>ACA384885452SCN8Ac.5347G>A (p.Asp1783Asn)
c.3411G>A
c.5224G>A (p.Asp1742Asn)
c.5380G>A (p.Asp1794Asn)
 gnomAD v4
12g.51806833G>CCA384885454SCN8Ac.5347G>C (p.Asp1783His)
c.3411G>C
c.5224G>C (p.Asp1742His)
c.5380G>C (p.Asp1794His)
12g.51806833G>TCA384885456SCN8Ac.5347G>T (p.Asp1783Tyr)
c.3411G>T
c.5224G>T (p.Asp1742Tyr)
c.5380G>T (p.Asp1794Tyr)
 gnomAD v4
12g.51806834A=CA2036193853SCN8Ac.5348A= (p.Asp1783=)
c.3412A=
c.5225A= (p.Asp1742=)
c.5381A= (p.Asp1794=)
12g.51806834A>CCA384885459SCN8Ac.5348A>C (p.Asp1783Ala)
c.3412A>C
c.5225A>C (p.Asp1742Ala)
c.5381A>C (p.Asp1794Ala)
12g.51806834A>GCA384885461SCN8Ac.5348A>G (p.Asp1783Gly)
c.3412A>G
c.5225A>G (p.Asp1742Gly)
c.5381A>G (p.Asp1794Gly)
12g.51806834A>TCA384885463SCN8Ac.5348A>T (p.Asp1783Val)
c.3412A>T
c.5225A>T (p.Asp1742Val)
c.5381A>T (p.Asp1794Val)
 ClinVar dbSNP
12g.51806835T>ACA384885466SCN8Ac.5349T>A (p.Asp1783Glu)
c.3413T>A
c.5226T>A (p.Asp1742Glu)
c.5382T>A (p.Asp1794Glu)
 gnomAD v4
12g.51806835T>CCA480062084SCN8Ac.5349T>C (p.Asp1783=)
c.3413T>C
c.5226T>C (p.Asp1742=)
c.5382T>C (p.Asp1794=)
12g.51806835T>GCA384885467SCN8Ac.5349T>G (p.Asp1783Glu)
c.3413T>G
c.5226T>G (p.Asp1742Glu)
c.5382T>G (p.Asp1794Glu)
12g.51806836G>ACA384885475SCN8Ac.5350G>A (p.Asp1784Asn)
c.3414G>A
c.5227G>A (p.Asp1743Asn)
c.5383G>A (p.Asp1795Asn)
12g.51806836G>CCA384885472SCN8Ac.5350G>C (p.Asp1784His)
c.3414G>C
c.5227G>C (p.Asp1743His)
c.5383G>C (p.Asp1795His)
12g.51806836G>TCA384885470SCN8Ac.5350G>T (p.Asp1784Tyr)
c.3414G>T
c.5227G>T (p.Asp1743Tyr)
c.5383G>T (p.Asp1795Tyr)
12g.51806837A>CCA384885480SCN8Ac.5351A>C (p.Asp1784Ala)
c.3415A>C
c.5228A>C (p.Asp1743Ala)
c.5384A>C (p.Asp1795Ala)
12g.51806837A>GCA384885478SCN8Ac.5351A>G (p.Asp1784Gly)
c.3415A>G
c.5228A>G (p.Asp1743Gly)
c.5384A>G (p.Asp1795Gly)
12g.51806837A>TCA384885479SCN8Ac.5351A>T (p.Asp1784Val)
c.3415A>T
c.5228A>T (p.Asp1743Val)
c.5384A>T (p.Asp1795Val)
12g.51806838C>ACA384885484SCN8Ac.5352C>A (p.Asp1784Glu)
c.3416C>A
c.5229C>A (p.Asp1743Glu)
c.5385C>A (p.Asp1795Glu)
12g.51806838C>GCA384885485SCN8Ac.5352C>G (p.Asp1784Glu)
c.3416C>G
c.5229C>G (p.Asp1743Glu)
c.5385C>G (p.Asp1795Glu)
12g.51806838C>TCA480062096SCN8Ac.5352C>T (p.Asp1784=)
c.3416C>T
c.5229C>T (p.Asp1743=)
c.5385C>T (p.Asp1795=)
12g.51806839T>ACA384885488SCN8Ac.5353T>A (p.Phe1785Ile)
c.3417T>A
c.5230T>A (p.Phe1744Ile)
c.5386T>A (p.Phe1796Ile)
12g.51806839T>CCA384885490SCN8Ac.5353T>C (p.Phe1785Leu)
c.3417T>C
c.5230T>C (p.Phe1744Leu)
c.5386T>C (p.Phe1796Leu)
12g.51806839T>GCA384885492SCN8Ac.5353T>G (p.Phe1785Val)
c.3417T>G
c.5230T>G (p.Phe1744Val)
c.5386T>G (p.Phe1796Val)
 COSMIC COSMIC
12g.51806840T>ACA384885496SCN8Ac.5354T>A (p.Phe1785Tyr)
c.3418T>A
c.5231T>A (p.Phe1744Tyr)
c.5387T>A (p.Phe1796Tyr)
12g.51806840T>CCA384885497SCN8Ac.5354T>C (p.Phe1785Ser)
c.3418T>C
c.5231T>C (p.Phe1744Ser)
c.5387T>C (p.Phe1796Ser)
12g.51806840T>GCA384885501SCN8Ac.5354T>G (p.Phe1785Cys)
c.3418T>G
c.5231T>G (p.Phe1744Cys)
c.5387T>G (p.Phe1796Cys)
12g.51806841T>ACA384885504SCN8Ac.5355T>A (p.Phe1785Leu)
c.3419T>A
c.5232T>A (p.Phe1744Leu)
c.5388T>A (p.Phe1796Leu)
12g.51806841T>CCA480062103SCN8Ac.5355T>C (p.Phe1785=)
c.3419T>C
c.5232T>C (p.Phe1744=)
c.5388T>C (p.Phe1796=)
12g.51806841T>GCA384885506SCN8Ac.5355T>G (p.Phe1785Leu)
c.3419T>G
c.5232T>G (p.Phe1744Leu)
c.5388T>G (p.Phe1796Leu)
 gnomAD v4
12g.51806842G>ACA384885511SCN8Ac.5356G>A (p.Glu1786Lys)
c.3420G>A
c.5233G>A (p.Glu1745Lys)
c.5389G>A (p.Glu1797Lys)
12g.51806842G>CCA384885514SCN8Ac.5356G>C (p.Glu1786Gln)
c.3420G>C
c.5233G>C (p.Glu1745Gln)
c.5389G>C (p.Glu1797Gln)
12g.51806842G>TCA384885509SCN8Ac.5356G>T (p.Glu1786Ter)
c.3420G>T
c.5233G>T (p.Glu1745Ter)
c.5389G>T (p.Glu1797Ter)
12g.51806843A>CCA384885517SCN8Ac.5357A>C (p.Glu1786Ala)
c.3421A>C
c.5234A>C (p.Glu1745Ala)
c.5390A>C (p.Glu1797Ala)
12g.51806843A>GCA384885519SCN8Ac.5357A>G (p.Glu1786Gly)
c.3421A>G
c.5234A>G (p.Glu1745Gly)
c.5390A>G (p.Glu1797Gly)
12g.51806843A>TCA384885522SCN8Ac.5357A>T (p.Glu1786Val)
c.3421A>T
c.5234A>T (p.Glu1745Val)
c.5390A>T (p.Glu1797Val)
12g.51806844G>ACA480062107SCN8Ac.5358G>A (p.Glu1786=)
c.3422G>A
c.5235G>A (p.Glu1745=)
c.5391G>A (p.Glu1797=)
12g.51806844G>CCA384885524SCN8Ac.5358G>C (p.Glu1786Asp)
c.3422G>C
c.5235G>C (p.Glu1745Asp)
c.5391G>C (p.Glu1797Asp)
12g.51806844G>TCA384885526SCN8Ac.5358G>T (p.Glu1786Asp)
c.3422G>T
c.5235G>T (p.Glu1745Asp)
c.5391G>T (p.Glu1797Asp)
12g.51806845A>CCA384885532SCN8Ac.5359A>C (p.Thr1787Pro)
c.3423A>C
c.5236A>C (p.Thr1746Pro)
c.5392A>C (p.Thr1798Pro)
12g.51806845A>GCA384885528SCN8Ac.5359A>G (p.Thr1787Ala)
c.3423A>G
c.5236A>G (p.Thr1746Ala)
c.5392A>G (p.Thr1798Ala)
12g.51806845A>TCA384885530SCN8Ac.5359A>T (p.Thr1787Ser)
c.3423A>T
c.5236A>T (p.Thr1746Ser)
c.5392A>T (p.Thr1798Ser)
12g.51806846C>ACA384885535SCN8Ac.5360C>A (p.Thr1787Asn)
c.3424C>A
c.5237C>A (p.Thr1746Asn)
c.5393C>A (p.Thr1798Asn)
 ClinVar dbSNP
12g.51806846C=CA2036193862SCN8Ac.5360C= (p.Thr1787=)
c.3424C=
c.5237C= (p.Thr1746=)
c.5393C= (p.Thr1798=)
12g.51806846C>GCA384885537SCN8Ac.5360C>G (p.Thr1787Ser)
c.3424C>G
c.5237C>G (p.Thr1746Ser)
c.5393C>G (p.Thr1798Ser)
12g.51806846C>TCA384885538SCN8Ac.5360C>T (p.Thr1787Ile)
c.3424C>T
c.5237C>T (p.Thr1746Ile)
c.5393C>T (p.Thr1798Ile)
12g.51806847C>ACA480062119SCN8Ac.5361C>A (p.Thr1787=)
c.3425C>A
c.5238C>A (p.Thr1746=)
c.5394C>A (p.Thr1798=)
 gnomAD v4
12g.51806847C>GCA480062120SCN8Ac.5361C>G (p.Thr1787=)
c.3425C>G
c.5238C>G (p.Thr1746=)
c.5394C>G (p.Thr1798=)
12g.51806847C>TCA480062122SCN8Ac.5361C>T (p.Thr1787=)
c.3425C>T
c.5238C>T (p.Thr1746=)
c.5394C>T (p.Thr1798=)
 COSMIC COSMIC
12g.51806848T>ACA384885542SCN8Ac.5362T>A (p.Phe1788Ile)
c.3426T>A
c.5239T>A (p.Phe1747Ile)
c.5395T>A (p.Phe1799Ile)
12g.51806848T>CCA384885543SCN8Ac.5362T>C (p.Phe1788Leu)
c.3426T>C
c.5239T>C (p.Phe1747Leu)
c.5395T>C (p.Phe1799Leu)
12g.51806848T>GCA384885545SCN8Ac.5362T>G (p.Phe1788Val)
c.3426T>G
c.5239T>G (p.Phe1747Val)
c.5395T>G (p.Phe1799Val)
 ClinVar
12g.51806849T>ACA384885551SCN8Ac.5363T>A (p.Phe1788Tyr)
c.3427T>A
c.5240T>A (p.Phe1747Tyr)
c.5396T>A (p.Phe1799Tyr)
12g.51806849T>CCA384885553SCN8Ac.5363T>C (p.Phe1788Ser)
c.3427T>C
c.5240T>C (p.Phe1747Ser)
c.5396T>C (p.Phe1799Ser)
12g.51806849T>GCA384885548SCN8Ac.5363T>G (p.Phe1788Cys)
c.3427T>G
c.5240T>G (p.Phe1747Cys)
c.5396T>G (p.Phe1799Cys)
 gnomAD v4
12g.51806850C>ACA384885555SCN8Ac.5364C>A (p.Phe1788Leu)
c.3428C>A
c.5241C>A (p.Phe1747Leu)
c.5397C>A (p.Phe1799Leu)
12g.51806850C>GCA384885556SCN8Ac.5364C>G (p.Phe1788Leu)
c.3428C>G
c.5241C>G (p.Phe1747Leu)
c.5397C>G (p.Phe1799Leu)
12g.51806850C>TCA480062132SCN8Ac.5364C>T (p.Phe1788=)
c.3428C>T
c.5241C>T (p.Phe1747=)
c.5397C>T (p.Phe1799=)
12g.51806851T>ACA384885559SCN8Ac.5365T>A (p.Tyr1789Asn)
c.3429T>A
c.5242T>A (p.Tyr1748Asn)
c.5398T>A (p.Tyr1800Asn)
12g.51806851T>CCA384885561SCN8Ac.5365T>C (p.Tyr1789His)
c.3429T>C
c.5242T>C (p.Tyr1748His)
c.5398T>C (p.Tyr1800His)
12g.51806851T>GCA384885563SCN8Ac.5365T>G (p.Tyr1789Asp)
c.3429T>G
c.5242T>G (p.Tyr1748Asp)
c.5398T>G (p.Tyr1800Asp)
12g.51806852A=CA2036193866SCN8Ac.5366A= (p.Tyr1789=)
c.3430A=
c.5243A= (p.Tyr1748=)
c.5399A= (p.Tyr1800=)
12g.51806852A>CCA384885566SCN8Ac.5366A>C (p.Tyr1789Ser)
c.3430A>C
c.5243A>C (p.Tyr1748Ser)
c.5399A>C (p.Tyr1800Ser)
12g.51806852A>GCA236327597SCN8Ac.5366A>G (p.Tyr1789Cys)
c.3430A>G
c.5243A>G (p.Tyr1748Cys)
c.5399A>G (p.Tyr1800Cys)
 ClinVar dbSNP gnomAD v4
12g.51806852A>TCA384885569SCN8Ac.5366A>T (p.Tyr1789Phe)
c.3430A>T
c.5243A>T (p.Tyr1748Phe)
c.5399A>T (p.Tyr1800Phe)
12g.51806853T>ACA384885573SCN8Ac.5367T>A (p.Tyr1789Ter)
c.3431T>A
c.5244T>A (p.Tyr1748Ter)
c.5400T>A (p.Tyr1800Ter)
12g.51806853T>CCA480062149SCN8Ac.5367T>C (p.Tyr1789=)
c.3431T>C
c.5244T>C (p.Tyr1748=)
c.5400T>C (p.Tyr1800=)
12g.51806853T>GCA384885575SCN8Ac.5367T>G (p.Tyr1789Ter)
c.3431T>G
c.5244T>G (p.Tyr1748Ter)
c.5400T>G (p.Tyr1800Ter)
 dbSNP gnomAD v3 gnomAD v4
12g.51806854G>ACA384885579SCN8Ac.5368G>A (p.Glu1790Lys)
c.3432G>A
c.5245G>A (p.Glu1749Lys)
c.5401G>A (p.Glu1801Lys)
 gnomAD v4
12g.51806854G>CCA384885581SCN8Ac.5368G>C (p.Glu1790Gln)
c.3432G>C
c.5245G>C (p.Glu1749Gln)
c.5401G>C (p.Glu1801Gln)
12g.51806854G=CA2036193871SCN8Ac.5368G= (p.Glu1790=)
c.3432G=
c.5245G= (p.Glu1749=)
c.5401G= (p.Glu1801=)
12g.51806854G>TCA384885583SCN8Ac.5368G>T (p.Glu1790Ter)
c.3432G>T
c.5245G>T (p.Glu1749Ter)
c.5401G>T (p.Glu1801Ter)
 dbSNP

Number of alleles fetched