Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806992A=CA2036194227SCN8Ac.5506A= (p.Met1836=)
c.3570A=
c.5383A= (p.Met1795=)
c.5539A= (p.Met1847=)
12g.51806992A>CCA384886994SCN8Ac.5506A>C (p.Met1836Leu)
c.3570A>C
c.5383A>C (p.Met1795Leu)
c.5539A>C (p.Met1847Leu)
12g.51806992A>GCA6571926SCN8Ac.5506A>G (p.Met1836Val)
c.3570A>G
c.5383A>G (p.Met1795Val)
c.5539A>G (p.Met1847Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806992A>TCA236327668SCN8Ac.5506A>T (p.Met1836Leu)
c.3570A>T
c.5383A>T (p.Met1795Leu)
c.5539A>T (p.Met1847Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51806993T>ACA384887002SCN8Ac.5507T>A (p.Met1836Lys)
c.3571T>A
c.5384T>A (p.Met1795Lys)
c.5540T>A (p.Met1847Lys)
12g.51806993T>CCA384887004SCN8Ac.5507T>C (p.Met1836Thr)
c.3571T>C
c.5384T>C (p.Met1795Thr)
c.5540T>C (p.Met1847Thr)
 dbSNP gnomAD v4
12g.51806993T>GCA384887003SCN8Ac.5507T>G (p.Met1836Arg)
c.3571T>G
c.5384T>G (p.Met1795Arg)
c.5540T>G (p.Met1847Arg)
12g.51806993T=CA2036194231SCN8Ac.5507T= (p.Met1836=)
c.3571T=
c.5384T= (p.Met1795=)
c.5540T= (p.Met1847=)
12g.51806994G>ACA384887008SCN8Ac.5508G>A (p.Met1836Ile)
c.3572G>A
c.5385G>A (p.Met1795Ile)
c.5541G>A (p.Met1847Ile)
12g.51806994G>CCA384887019SCN8Ac.5508G>C (p.Met1836Ile)
c.3572G>C
c.5385G>C (p.Met1795Ile)
c.5541G>C (p.Met1847Ile)
12g.51806994G>TCA384887026SCN8Ac.5508G>T (p.Met1836Ile)
c.3572G>T
c.5385G>T (p.Met1795Ile)
c.5541G>T (p.Met1847Ile)
12g.51806995G>ACA384887030SCN8Ac.5509G>A (p.Val1837Met)
c.3573G>A
c.5386G>A (p.Val1796Met)
c.5542G>A (p.Val1848Met)
12g.51806995G>CCA384887031SCN8Ac.5509G>C (p.Val1837Leu)
c.3573G>C
c.5386G>C (p.Val1796Leu)
c.5542G>C (p.Val1848Leu)
12g.51806995G>TCA384887033SCN8Ac.5509G>T (p.Val1837Leu)
c.3573G>T
c.5386G>T (p.Val1796Leu)
c.5542G>T (p.Val1848Leu)
12g.51806996T>ACA384887038SCN8Ac.5510T>A (p.Val1837Glu)
c.3574T>A
c.5387T>A (p.Val1796Glu)
c.5543T>A (p.Val1848Glu)
12g.51806996T>CCA384887052SCN8Ac.5510T>C (p.Val1837Ala)
c.3574T>C
c.5387T>C (p.Val1796Ala)
c.5543T>C (p.Val1848Ala)
12g.51806996T>GCA384887056SCN8Ac.5510T>G (p.Val1837Gly)
c.3574T>G
c.5387T>G (p.Val1796Gly)
c.5543T>G (p.Val1848Gly)
12g.51806997G>ACA480061912SCN8Ac.5511G>A (p.Val1837=)
c.3575G>A
c.5388G>A (p.Val1796=)
c.5544G>A (p.Val1848=)
12g.51806997G>CCA480061911SCN8Ac.5511G>C (p.Val1837=)
c.3575G>C
c.5388G>C (p.Val1796=)
c.5544G>C (p.Val1848=)
12g.51806997G>TCA480061910SCN8Ac.5511G>T (p.Val1837=)
c.3575G>T
c.5388G>T (p.Val1796=)
c.5544G>T (p.Val1848=)
12g.51806998A>CCA384887060SCN8Ac.5512A>C (p.Ser1838Arg)
c.3576A>C
c.5389A>C (p.Ser1797Arg)
c.5545A>C (p.Ser1849Arg)
12g.51806998A>GCA384887061SCN8Ac.5512A>G (p.Ser1838Gly)
c.3576A>G
c.5389A>G (p.Ser1797Gly)
c.5545A>G (p.Ser1849Gly)
12g.51806998A>TCA384887062SCN8Ac.5512A>T (p.Ser1838Cys)
c.3576A>T
c.5389A>T (p.Ser1797Cys)
c.5545A>T (p.Ser1849Cys)
12g.51806999G>ACA384887073SCN8Ac.5513G>A (p.Ser1838Asn)
c.3577G>A
c.5390G>A (p.Ser1797Asn)
c.5546G>A (p.Ser1849Asn)
12g.51806999G>CCA384887067SCN8Ac.5513G>C (p.Ser1838Thr)
c.3577G>C
c.5390G>C (p.Ser1797Thr)
c.5546G>C (p.Ser1849Thr)
12g.51806999G>TCA384887066SCN8Ac.5513G>T (p.Ser1838Ile)
c.3577G>T
c.5390G>T (p.Ser1797Ile)
c.5546G>T (p.Ser1849Ile)
12g.51807000C>ACA384887074SCN8Ac.5514C>A (p.Ser1838Arg)
c.3578C>A
c.5391C>A (p.Ser1797Arg)
c.5547C>A (p.Ser1849Arg)
12g.51807000C=CA2036194235SCN8Ac.5514C= (p.Ser1838=)
c.3578C=
c.5391C= (p.Ser1797=)
c.5547C= (p.Ser1849=)
12g.51807000C>GCA384887077SCN8Ac.5514C>G (p.Ser1838Arg)
c.3578C>G
c.5391C>G (p.Ser1797Arg)
c.5547C>G (p.Ser1849Arg)
12g.51807000C>TCA6571927SCN8Ac.5514C>T (p.Ser1838=)
c.3578C>T
c.5391C>T (p.Ser1797=)
c.5547C>T (p.Ser1849=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807001G>ACA384887082SCN8Ac.5515G>A (p.Gly1839Arg)
c.5392G>A (p.Gly1798Arg)
c.5548G>A (p.Gly1850Arg)
 ClinVar dbSNP gnomAD v4
12g.51807001G>CCA384887084SCN8Ac.5515G>C (p.Gly1839Arg)
c.5392G>C (p.Gly1798Arg)
c.5548G>C (p.Gly1850Arg)
 gnomAD v4
12g.51807001G=CA2036194241SCN8Ac.5515G= (p.Gly1839=)
c.5392G= (p.Gly1798=)
c.5548G= (p.Gly1850=)
12g.51807001G>TCA384887088SCN8Ac.5515G>T (p.Gly1839Trp)
c.5392G>T (p.Gly1798Trp)
c.5548G>T (p.Gly1850Trp)
12g.51807002G>ACA384887089SCN8Ac.5516G>A (p.Gly1839Glu)
c.5393G>A (p.Gly1798Glu)
c.5549G>A (p.Gly1850Glu)
12g.51807002G>CCA384887090SCN8Ac.5516G>C (p.Gly1839Ala)
c.5393G>C (p.Gly1798Ala)
c.5549G>C (p.Gly1850Ala)
12g.51807002G>TCA384887091SCN8Ac.5516G>T (p.Gly1839Val)
c.5393G>T (p.Gly1798Val)
c.5549G>T (p.Gly1850Val)
 gnomAD v4
12g.51807003G>ACA480061918SCN8Ac.5517G>A (p.Gly1839=)
c.5394G>A (p.Gly1798=)
c.5550G>A (p.Gly1850=)
12g.51807003G>CCA480061919SCN8Ac.5517G>C (p.Gly1839=)
c.5394G>C (p.Gly1798=)
c.5550G>C (p.Gly1850=)
12g.51807003G>TCA480061920SCN8Ac.5517G>T (p.Gly1839=)
c.5394G>T (p.Gly1798=)
c.5550G>T (p.Gly1850=)
12g.51807003_51807004insTACA2618841927SCN8Ac.5517_5518insTA (p.Asp1840Ter)
c.5394_5395insTA (p.Asp1799Ter)
c.5550_5551insTA (p.Asp1851Ter)
 gnomAD v4
12g.51807004G>ACA384887096SCN8Ac.5518G>A (p.Asp1840Asn)
c.5395G>A (p.Asp1799Asn)
c.5551G>A (p.Asp1851Asn)
12g.51807004G>CCA384887099SCN8Ac.5518G>C (p.Asp1840His)
c.5395G>C (p.Asp1799His)
c.5551G>C (p.Asp1851His)
12g.51807004G>TCA384887101SCN8Ac.5518G>T (p.Asp1840Tyr)
c.5395G>T (p.Asp1799Tyr)
c.5551G>T (p.Asp1851Tyr)
12g.51807005A>CCA384887108SCN8Ac.5519A>C (p.Asp1840Ala)
c.5396A>C (p.Asp1799Ala)
c.5552A>C (p.Asp1851Ala)
12g.51807005A>GCA384887123SCN8Ac.5519A>G (p.Asp1840Gly)
c.5396A>G (p.Asp1799Gly)
c.5552A>G (p.Asp1851Gly)
12g.51807005A>TCA384887120SCN8Ac.5519A>T (p.Asp1840Val)
c.5396A>T (p.Asp1799Val)
c.5552A>T (p.Asp1851Val)
12g.51807006T>ACA384887126SCN8Ac.5520T>A (p.Asp1840Glu)
c.5397T>A (p.Asp1799Glu)
c.5553T>A (p.Asp1851Glu)
12g.51807006T>CCA480061924SCN8Ac.5520T>C (p.Asp1840=)
c.5397T>C (p.Asp1799=)
c.5553T>C (p.Asp1851=)
12g.51807006T>GCA384887131SCN8Ac.5520T>G (p.Asp1840Glu)
c.5397T>G (p.Asp1799Glu)
c.5553T>G (p.Asp1851Glu)

Number of alleles fetched