Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806599G>ACA384883442SCN8Ac.5113G>A (p.Ala1705Thr)
c.3177G>A
c.4990G>A (p.Ala1664Thr)
c.5146G>A (p.Ala1716Thr)
12g.51806599G>CCA384883443SCN8Ac.5113G>C (p.Ala1705Pro)
c.3177G>C
c.4990G>C (p.Ala1664Pro)
c.5146G>C (p.Ala1716Pro)
12g.51806599G>TCA384883444SCN8Ac.5113G>T (p.Ala1705Ser)
c.3177G>T
c.4990G>T (p.Ala1664Ser)
c.5146G>T (p.Ala1716Ser)
12g.51806600C>ACA384883458SCN8Ac.5114C>A (p.Ala1705Asp)
c.3178C>A
c.4991C>A (p.Ala1664Asp)
c.5147C>A (p.Ala1716Asp)
12g.51806600C>GCA384883454SCN8Ac.5114C>G (p.Ala1705Gly)
c.3178C>G
c.4991C>G (p.Ala1664Gly)
c.5147C>G (p.Ala1716Gly)
12g.51806600C>TCA384883451SCN8Ac.5114C>T (p.Ala1705Val)
c.3178C>T
c.4991C>T (p.Ala1664Val)
c.5147C>T (p.Ala1716Val)
12g.51806601T>ACA480061994SCN8Ac.5115T>A (p.Ala1705=)
c.3179T>A
c.4992T>A (p.Ala1664=)
c.5148T>A (p.Ala1716=)
12g.51806601T>CCA480061996SCN8Ac.5115T>C (p.Ala1705=)
c.3179T>C
c.4992T>C (p.Ala1664=)
c.5148T>C (p.Ala1716=)
12g.51806601T>GCA480061995SCN8Ac.5115T>G (p.Ala1705=)
c.3179T>G
c.4992T>G (p.Ala1664=)
c.5148T>G (p.Ala1716=)
12g.51806602G>ACA384883469SCN8Ac.5116G>A (p.Gly1706Ser)
c.3180G>A
c.4993G>A (p.Gly1665Ser)
c.5149G>A (p.Gly1717Ser)
12g.51806602G>CCA384883472SCN8Ac.5116G>C (p.Gly1706Arg)
c.3180G>C
c.4993G>C (p.Gly1665Arg)
c.5149G>C (p.Gly1717Arg)
12g.51806602G>TCA384883478SCN8Ac.5116G>T (p.Gly1706Cys)
c.3180G>T
c.4993G>T (p.Gly1665Cys)
c.5149G>T (p.Gly1717Cys)
12g.51806603G>ACA384883491SCN8Ac.5117G>A (p.Gly1706Asp)
c.3181G>A
c.4994G>A (p.Gly1665Asp)
c.5150G>A (p.Gly1717Asp)
12g.51806603G>CCA384883508SCN8Ac.5117G>C (p.Gly1706Ala)
c.3181G>C
c.4994G>C (p.Gly1665Ala)
c.5150G>C (p.Gly1717Ala)
12g.51806603G>TCA384883513SCN8Ac.5117G>T (p.Gly1706Val)
c.3181G>T
c.4994G>T (p.Gly1665Val)
c.5150G>T (p.Gly1717Val)
12g.51806604T>ACA480062001SCN8Ac.5118T>A (p.Gly1706=)
c.3182T>A
c.4995T>A (p.Gly1665=)
c.5151T>A (p.Gly1717=)
12g.51806604T>CCA6571890SCN8Ac.5118T>C (p.Gly1706=)
c.3182T>C
c.4995T>C (p.Gly1665=)
c.5151T>C (p.Gly1717=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806604T>GCA480062002SCN8Ac.5118T>G (p.Gly1706=)
c.3182T>G
c.4995T>G (p.Gly1665=)
c.5151T>G (p.Gly1717=)
12g.51806604T=CA2036193335SCN8Ac.5118T= (p.Gly1706=)
c.3182T=
c.4995T= (p.Gly1665=)
c.5151T= (p.Gly1717=)
12g.51806605T>ACA384883521SCN8Ac.5119T>A (p.Trp1707Arg)
c.3183T>A
c.4996T>A (p.Trp1666Arg)
c.5152T>A (p.Trp1718Arg)
12g.51806605T>CCA384883528SCN8Ac.5119T>C (p.Trp1707Arg)
c.3183T>C
c.4996T>C (p.Trp1666Arg)
c.5152T>C (p.Trp1718Arg)
12g.51806605T>GCA384883534SCN8Ac.5119T>G (p.Trp1707Gly)
c.3183T>G
c.4996T>G (p.Trp1666Gly)
c.5152T>G (p.Trp1718Gly)
12g.51806606G>ACA384883544SCN8Ac.5120G>A (p.Trp1707Ter)
c.3184G>A
c.4997G>A (p.Trp1666Ter)
c.5153G>A (p.Trp1718Ter)
12g.51806606G>CCA384883548SCN8Ac.5120G>C (p.Trp1707Ser)
c.3184G>C
c.4997G>C (p.Trp1666Ser)
c.5153G>C (p.Trp1718Ser)
12g.51806606G>TCA384883553SCN8Ac.5120G>T (p.Trp1707Leu)
c.3184G>T
c.4997G>T (p.Trp1666Leu)
c.5153G>T (p.Trp1718Leu)
12g.51806607G>ACA384883563SCN8Ac.5121G>A (p.Trp1707Ter)
c.3185G>A
c.4998G>A (p.Trp1666Ter)
c.5154G>A (p.Trp1718Ter)
 dbSNP
12g.51806607G>CCA384883567SCN8Ac.5121G>C (p.Trp1707Cys)
c.3185G>C
c.4998G>C (p.Trp1666Cys)
c.5154G>C (p.Trp1718Cys)
12g.51806607G=CA2036193338SCN8Ac.5121G= (p.Trp1707=)
c.3185G=
c.4998G= (p.Trp1666=)
c.5154G= (p.Trp1718=)
12g.51806607G>TCA384883565SCN8Ac.5121G>T (p.Trp1707Cys)
c.3185G>T
c.4998G>T (p.Trp1666Cys)
c.5154G>T (p.Trp1718Cys)
12g.51806608G>ACA384883572SCN8Ac.5122G>A (p.Asp1708Asn)
c.3186G>A
c.4999G>A (p.Asp1667Asn)
c.5155G>A (p.Asp1719Asn)
12g.51806608G>CCA384883583SCN8Ac.5122G>C (p.Asp1708His)
c.3186G>C
c.4999G>C (p.Asp1667His)
c.5155G>C (p.Asp1719His)
12g.51806608G>TCA384883577SCN8Ac.5122G>T (p.Asp1708Tyr)
c.3186G>T
c.4999G>T (p.Asp1667Tyr)
c.5155G>T (p.Asp1719Tyr)
12g.51806609A>CCA384883586SCN8Ac.5123A>C (p.Asp1708Ala)
c.3187A>C
c.5000A>C (p.Asp1667Ala)
c.5156A>C (p.Asp1719Ala)
12g.51806609A>GCA384883593SCN8Ac.5123A>G (p.Asp1708Gly)
c.3187A>G
c.5000A>G (p.Asp1667Gly)
c.5156A>G (p.Asp1719Gly)
12g.51806609A>TCA384883587SCN8Ac.5123A>T (p.Asp1708Val)
c.3187A>T
c.5000A>T (p.Asp1667Val)
c.5156A>T (p.Asp1719Val)
12g.51806610T>ACA384883594SCN8Ac.5124T>A (p.Asp1708Glu)
c.3188T>A
c.5001T>A (p.Asp1667Glu)
c.5157T>A (p.Asp1719Glu)
12g.51806610T>CCA480062010SCN8Ac.5124T>C (p.Asp1708=)
c.3188T>C
c.5001T>C (p.Asp1667=)
c.5157T>C (p.Asp1719=)
 dbSNP
12g.51806610T>GCA384883595SCN8Ac.5124T>G (p.Asp1708Glu)
c.3188T>G
c.5001T>G (p.Asp1667Glu)
c.5157T>G (p.Asp1719Glu)
12g.51806610T=CA2036193341SCN8Ac.5124T= (p.Asp1708=)
c.3188T=
c.5001T= (p.Asp1667=)
c.5157T= (p.Asp1719=)
12g.51806611G>ACA384883597SCN8Ac.5125G>A (p.Gly1709Ser)
c.3189G>A
c.5002G>A (p.Gly1668Ser)
c.5158G>A (p.Gly1720Ser)
12g.51806611G>CCA384883607SCN8Ac.5125G>C (p.Gly1709Arg)
c.3189G>C
c.5002G>C (p.Gly1668Arg)
c.5158G>C (p.Gly1720Arg)
12g.51806611G>TCA384883602SCN8Ac.5125G>T (p.Gly1709Cys)
c.3189G>T
c.5002G>T (p.Gly1668Cys)
c.5158G>T (p.Gly1720Cys)
12g.51806612G>ACA384883617SCN8Ac.5126G>A (p.Gly1709Asp)
c.3190G>A
c.5003G>A (p.Gly1668Asp)
c.5159G>A (p.Gly1720Asp)
12g.51806612G>CCA384883638SCN8Ac.5126G>C (p.Gly1709Ala)
c.3190G>C
c.5003G>C (p.Gly1668Ala)
c.5159G>C (p.Gly1720Ala)
12g.51806612G>TCA384883644SCN8Ac.5126G>T (p.Gly1709Val)
c.3190G>T
c.5003G>T (p.Gly1668Val)
c.5159G>T (p.Gly1720Val)
12g.51806613C>ACA480062015SCN8Ac.5127C>A (p.Gly1709=)
c.3191C>A
c.5004C>A (p.Gly1668=)
c.5160C>A (p.Gly1720=)
12g.51806613C>GCA480062018SCN8Ac.5127C>G (p.Gly1709=)
c.3191C>G
c.5004C>G (p.Gly1668=)
c.5160C>G (p.Gly1720=)
12g.51806613C>TCA480062016SCN8Ac.5127C>T (p.Gly1709=)
c.3191C>T
c.5004C>T (p.Gly1668=)
c.5160C>T (p.Gly1720=)
12g.51806614C>ACA384883648SCN8Ac.5128C>A (p.Leu1710Met)
c.3192C>A
c.5005C>A (p.Leu1669Met)
c.5161C>A (p.Leu1721Met)
12g.51806614C>GCA384883653SCN8Ac.5128C>G (p.Leu1710Val)
c.3192C>G
c.5005C>G (p.Leu1669Val)
c.5161C>G (p.Leu1721Val)

Number of alleles fetched