Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched