Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched