Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.123686796_123686811delCA2621689146TCTN2c.565-40_565-25del (n.565-40_565-25del)
c.562-40_562-25del (n.562-40_562-25del)
c.-221-40_-221-25del (n.-221-40_-221-25del)
 gnomAD v4
12g.123686799delCA608507034TCTN2c.565-37del (n.565-37del)
c.562-37del (n.562-37del)
c.-221-37del (n.-221-37del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.123686799C>ACA2621689158TCTN2c.565-37C>A (n.565-37C>A)
c.562-37C>A (n.562-37C>A)
c.-221-37C>A (n.-221-37C>A)
 gnomAD v4
12g.123686799C=CA2068914553TCTN2c.565-37C= (n.565-37C=)
c.562-37C= (n.562-37C=)
c.-221-37C= (n.-221-37C=)
12g.123686799C>GCA2621689159TCTN2c.565-37C>G (n.565-37C>G)
c.562-37C>G (n.562-37C>G)
c.-221-37C>G (n.-221-37C>G)
 gnomAD v4
12g.123686799C>TCA684704481TCTN2c.565-37C>T (n.565-37C>T)
c.562-37C>T (n.562-37C>T)
c.-221-37C>T (n.-221-37C>T)
 dbSNP gnomAD v4
12g.123686800A=CA2068914554TCTN2c.565-36A= (n.565-36A=)
c.562-36A= (n.562-36A=)
c.-221-36A= (n.-221-36A=)
12g.123686800A>GCA2068914555TCTN2c.565-36A>G (n.565-36A>G)
c.562-36A>G (n.562-36A>G)
c.-221-36A>G (n.-221-36A>G)
 dbSNP gnomAD v4
12g.123686801C>ACA2575341760TCTN2c.565-35C>A (n.565-35C>A)
c.562-35C>A (n.562-35C>A)
c.-221-35C>A (n.-221-35C>A)
 gnomAD v4
12g.123686801C=CA2068914556TCTN2c.565-35C= (n.565-35C=)
c.562-35C= (n.562-35C=)
c.-221-35C= (n.-221-35C=)
12g.123686801C>TCA6860925TCTN2c.565-35C>T (n.565-35C>T)
c.562-35C>T (n.562-35C>T)
c.-221-35C>T (n.-221-35C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686802G>ACA6860926TCTN2c.565-34G>A (n.565-34G>A)
c.562-34G>A (n.562-34G>A)
c.-221-34G>A (n.-221-34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686802G=CA2068914557TCTN2c.565-34G= (n.565-34G=)
c.562-34G= (n.562-34G=)
c.-221-34G= (n.-221-34G=)
12g.123686802G>TCA608507035TCTN2c.565-34G>T (n.565-34G>T)
c.562-34G>T (n.562-34G>T)
c.-221-34G>T (n.-221-34G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.123686803G>TCA2621689171TCTN2c.565-33G>T (n.565-33G>T)
c.562-33G>T (n.562-33G>T)
c.-221-33G>T (n.-221-33G>T)
 gnomAD v4
12g.123686805C>ACA2621689175TCTN2c.565-31C>A (n.565-31C>A)
c.562-31C>A (n.562-31C>A)
c.-221-31C>A (n.-221-31C>A)
 gnomAD v4
12g.123686805C=CA2068914558TCTN2c.565-31C= (n.565-31C=)
c.562-31C= (n.562-31C=)
c.-221-31C= (n.-221-31C=)
12g.123686805C>TCA6860927TCTN2c.565-31C>T (n.565-31C>T)
c.562-31C>T (n.562-31C>T)
c.-221-31C>T (n.-221-31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686807C=CA2068914559TCTN2c.565-29C= (n.565-29C=)
c.562-29C= (n.562-29C=)
c.-221-29C= (n.-221-29C=)
12g.123686807C>TCA6860928TCTN2c.565-29C>T (n.565-29C>T)
c.562-29C>T (n.562-29C>T)
c.-221-29C>T (n.-221-29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.123686808A=CA2068914560TCTN2c.565-28A= (n.565-28A=)
c.562-28A= (n.562-28A=)
c.-221-28A= (n.-221-28A=)
12g.123686808A>TCA482266768TCTN2c.565-28A>T (n.565-28A>T)
c.562-28A>T (n.562-28A>T)
c.-221-28A>T (n.-221-28A>T)
 dbSNP gnomAD v4
12g.123686809G>ACA2621689188TCTN2c.565-27G>A (n.565-27G>A)
c.562-27G>A (n.562-27G>A)
c.-221-27G>A (n.-221-27G>A)
 gnomAD v4
12g.123686810C>TCA2575341761TCTN2c.565-26C>T (n.565-26C>T)
c.562-26C>T (n.562-26C>T)
c.-221-26C>T (n.-221-26C>T)
 gnomAD v4
12g.123686811T>CCA608507036TCTN2c.565-25T>C (n.565-25T>C)
c.562-25T>C (n.562-25T>C)
c.-221-25T>C (n.-221-25T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.123686811T=CA2068914561TCTN2c.565-25T= (n.565-25T=)
c.562-25T= (n.562-25T=)
c.-221-25T= (n.-221-25T=)
12g.123686815G>ACA2068914566TCTN2c.565-21G>A (n.565-21G>A)
c.562-21G>A (n.562-21G>A)
c.-221-21G>A (n.-221-21G>A)
 dbSNP
12g.123686815G=CA2068914564TCTN2c.565-21G= (n.565-21G=)
c.562-21G= (n.562-21G=)
c.-221-21G= (n.-221-21G=)
12g.123686817C=CA2068914568TCTN2c.565-19C= (n.565-19C=)
c.562-19C= (n.562-19C=)
c.-221-19C= (n.-221-19C=)
12g.123686817C>TCA2068914570TCTN2c.565-19C>T (n.565-19C>T)
c.562-19C>T (n.562-19C>T)
c.-221-19C>T (n.-221-19C>T)
 dbSNP
12g.123686818T>GCA6860929TCTN2c.565-18T>G (n.565-18T>G)
c.562-18T>G (n.562-18T>G)
c.-221-18T>G (n.-221-18T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686818T=CA2068914574TCTN2c.565-18T= (n.565-18T=)
c.562-18T= (n.562-18T=)
c.-221-18T= (n.-221-18T=)
12g.123686819T>CCA2621689193TCTN2c.565-17T>C (n.565-17T>C)
c.562-17T>C (n.562-17T>C)
c.-221-17T>C (n.-221-17T>C)
 gnomAD v4
12g.123686821A>GCA2621689195TCTN2c.565-15A>G (n.565-15A>G)
c.562-15A>G (n.562-15A>G)
c.-221-15A>G (n.-221-15A>G)
 gnomAD v4
12g.123686822T>CCA2621689198TCTN2c.565-14T>C (n.565-14T>C)
c.562-14T>C (n.562-14T>C)
c.-221-14T>C (n.-221-14T>C)
 gnomAD v4
12g.123686823G>TCA655256183TCTN2c.565-13G>T (n.565-13G>T)
c.562-13G>T (n.562-13G>T)
c.-221-13G>T (n.-221-13G>T)
 COSMIC
12g.123686826T>CCA952802223TCTN2c.565-10T>C (n.565-10T>C)
c.562-10T>C (n.562-10T>C)
c.-221-10T>C (n.-221-10T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.123686826T=CA2068914580TCTN2c.565-10T= (n.565-10T=)
c.562-10T= (n.562-10T=)
c.-221-10T= (n.-221-10T=)
12g.123686827G>ACA245195308TCTN2c.565-9G>A (n.565-9G>A)
c.562-9G>A (n.562-9G>A)
c.-221-9G>A (n.-221-9G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.123686827G>CCA2621689199TCTN2c.565-9G>C (n.565-9G>C)
c.562-9G>C (n.562-9G>C)
c.-221-9G>C (n.-221-9G>C)
 gnomAD v4
12g.123686827G=CA2068914581TCTN2c.565-9G= (n.565-9G=)
c.562-9G= (n.562-9G=)
c.-221-9G= (n.-221-9G=)
12g.123686827G>TCA2621689201TCTN2c.565-9G>T (n.565-9G>T)
c.562-9G>T (n.562-9G>T)
c.-221-9G>T (n.-221-9G>T)
 gnomAD v4
12g.123686830T>CCA952802243TCTN2c.565-6T>C (n.565-6T>C)
c.562-6T>C (n.562-6T>C)
c.-221-6T>C (n.-221-6T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.123686830T>GCA2068914588TCTN2c.565-6T>G (n.565-6T>G)
c.562-6T>G (n.562-6T>G)
c.-221-6T>G (n.-221-6T>G)
 dbSNP
12g.123686830T=CA2068914586TCTN2c.565-6T= (n.565-6T=)
c.562-6T= (n.562-6T=)
c.-221-6T= (n.-221-6T=)
12g.123686831T>GCA608507037TCTN2c.565-5T>G (n.565-5T>G)
c.562-5T>G (n.562-5T>G)
c.-221-5T>G (n.-221-5T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.123686831T=CA2068914589TCTN2c.565-5T= (n.565-5T=)
c.562-5T= (n.562-5T=)
c.-221-5T= (n.-221-5T=)
12g.123686832C>GCA2727241767TCTN2c.565-4C>G (n.565-4C>G)
c.562-4C>G (n.562-4C>G)
c.-221-4C>G (n.-221-4C>G)
 dbSNP
12g.123686833C>TCA2621689208TCTN2c.565-3C>T (n.565-3C>T)
c.562-3C>T (n.562-3C>T)
c.-221-3C>T (n.-221-3C>T)
 gnomAD v4
12g.123686834A=CA2068914592TCTN2c.565-2A= (n.565-2A=)
c.562-2A= (n.562-2A=)
c.-221-2A= (n.-221-2A=)
12g.123686834A>CCA387161256TCTN2c.565-2A>C (n.565-2A>C)
c.562-2A>C (n.562-2A>C)
c.-221-2A>C (n.-221-2A>C)
12g.123686834A>GCA387161258TCTN2c.565-2A>G (n.565-2A>G)
c.562-2A>G (n.562-2A>G)
c.-221-2A>G (n.-221-2A>G)
12g.123686834A>TCA387161260TCTN2c.565-2A>T (n.565-2A>T)
c.562-2A>T (n.562-2A>T)
c.-221-2A>T (n.-221-2A>T)
 ClinVar dbSNP
12g.123686835G>ACA387161262TCTN2c.565-1G>A (n.565-1G>A)
c.562-1G>A (n.562-1G>A)
c.-221-1G>A (n.-221-1G>A)
 ClinVar gnomAD v4
12g.123686835G>CCA6860930TCTN2c.565-1G>C (n.565-1G>C)
c.562-1G>C (n.562-1G>C)
c.-221-1G>C (n.-221-1G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.123686835G=CA2068914603TCTN2c.565-1G= (n.565-1G=)
c.562-1G= (n.562-1G=)
c.-221-1G= (n.-221-1G=)
12g.123686835G>TCA387161265TCTN2c.565-1G>T (n.565-1G>T)
c.562-1G>T (n.562-1G>T)
c.-221-1G>T (n.-221-1G>T)
12g.123686836G>ACA387161267TCTN2c.565G>A (p.Glu189Lys)
c.562G>A (p.Glu188Lys)
c.-221G>A (n.-221G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.123686836G>CCA387161270TCTN2c.565G>C (p.Glu189Gln)
c.562G>C (p.Glu188Gln)
c.-221G>C (n.-221G>C)
12g.123686836G=CA2068914605TCTN2c.565G= (p.Glu189=)
c.562G= (p.Glu188=)
c.-221G= (n.-221G=)
12g.123686836G>TCA387161268TCTN2c.565G>T (p.Glu189Ter)
c.562G>T (p.Glu188Ter)
c.-221G>T (n.-221G>T)
12g.123686837A=CA2068914609TCTN2c.566A= (p.Glu189=)
c.563A= (p.Glu188=)
c.-220A= (n.-220A=)
12g.123686837A>CCA387161272TCTN2c.566A>C (p.Glu189Ala)
c.563A>C (p.Glu188Ala)
c.-220A>C (n.-220A>C)
12g.123686837A>GCA387161274TCTN2c.566A>G (p.Glu189Gly)
c.563A>G (p.Glu188Gly)
c.-220A>G (n.-220A>G)
12g.123686837A>TCA387161276TCTN2c.566A>T (p.Glu189Val)
c.563A>T (p.Glu188Val)
c.-220A>T (n.-220A>T)
 dbSNP gnomAD v3 gnomAD v4
12g.123686838A=CA2068914616TCTN2c.567A= (p.Glu189=)
c.564A= (p.Glu188=)
c.-219A= (n.-219A=)
12g.123686838A>CCA387161278TCTN2c.567A>C (p.Glu189Asp)
c.564A>C (p.Glu188Asp)
c.-219A>C (n.-219A>C)
12g.123686838A>GCA6860931TCTN2c.567A>G (p.Glu189=)
c.564A>G (p.Glu188=)
c.-219A>G (n.-219A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686838A>TCA387161280TCTN2c.567A>T (p.Glu189Asp)
c.564A>T (p.Glu188Asp)
c.-219A>T (n.-219A>T)
12g.123686839T>ACA387161286TCTN2c.568T>A (p.Cys190Ser)
c.565T>A (p.Cys189Ser)
c.-218T>A (n.-218T>A)
12g.123686839T>CCA387161282TCTN2c.568T>C (p.Cys190Arg)
c.565T>C (p.Cys189Arg)
c.-218T>C (n.-218T>C)
12g.123686839T>GCA387161284TCTN2c.568T>G (p.Cys190Gly)
c.565T>G (p.Cys189Gly)
c.-218T>G (n.-218T>G)
12g.123686840G>ACA387161288TCTN2c.569G>A (p.Cys190Tyr)
c.566G>A (p.Cys189Tyr)
c.-217G>A (n.-217G>A)
12g.123686840G>CCA387161290TCTN2c.569G>C (p.Cys190Ser)
c.566G>C (p.Cys189Ser)
c.-217G>C (n.-217G>C)
12g.123686840G>TCA387161291TCTN2c.569G>T (p.Cys190Phe)
c.566G>T (p.Cys189Phe)
c.-217G>T (n.-217G>T)
12g.123686841C>ACA387161293TCTN2c.570C>A (p.Cys190Ter)
c.567C>A (p.Cys189Ter)
c.-216C>A (n.-216C>A)
12g.123686841C>GCA387161295TCTN2c.570C>G (p.Cys190Trp)
c.567C>G (p.Cys189Trp)
c.-216C>G (n.-216C>G)
12g.123686841C>TCA482266772TCTN2c.570C>T (p.Cys190=)
c.567C>T (p.Cys189=)
c.-216C>T (n.-216C>T)
12g.123686842T>ACA387161297TCTN2c.571T>A (p.Ser191Thr)
c.568T>A (p.Ser190Thr)
c.-215T>A (n.-215T>A)
12g.123686842T>CCA387161299TCTN2c.571T>C (p.Ser191Pro)
c.568T>C (p.Ser190Pro)
c.-215T>C (n.-215T>C)
12g.123686842T>GCA6860932TCTN2c.571T>G (p.Ser191Ala)
c.568T>G (p.Ser190Ala)
c.-215T>G (n.-215T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686842T=CA2068914622TCTN2c.571T= (p.Ser191=)
c.568T= (p.Ser190=)
c.-215T= (n.-215T=)
12g.123686843C>ACA387161302TCTN2c.572C>A (p.Ser191Ter)
c.569C>A (p.Ser190Ter)
c.-214C>A (n.-214C>A)
12g.123686843C>GCA387161303TCTN2c.572C>G (p.Ser191Ter)
c.569C>G (p.Ser190Ter)
c.-214C>G (n.-214C>G)
12g.123686843C>TCA387161304TCTN2c.572C>T (p.Ser191Leu)
c.569C>T (p.Ser190Leu)
c.-214C>T (n.-214C>T)
 COSMIC
12g.123686844delCA2499221478TCTN2c.573del (p.Ser192GlnfsTer3)
c.570del (p.Ser191GlnfsTer3)
c.-213del (n.-213del)
 ClinVar dbSNP
12g.123686844A=CA2068914646TCTN2c.573A= (p.Ser191=)
c.570A= (p.Ser190=)
c.-213A= (n.-213A=)
12g.123686844A>CCA482266773TCTN2c.573A>C (p.Ser191=)
c.570A>C (p.Ser190=)
c.-213A>C (n.-213A>C)
12g.123686844A>GCA482266774TCTN2c.573A>G (p.Ser191=)
c.570A>G (p.Ser190=)
c.-213A>G (n.-213A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.123686844A>TCA6860933TCTN2c.573A>T (p.Ser191=)
c.570A>T (p.Ser190=)
c.-213A>T (n.-213A>T)
 dbSNP ExAC gnomAD v2
12g.123686845T>ACA387161309TCTN2c.574T>A (p.Ser192Thr)
c.571T>A (p.Ser191Thr)
c.-212T>A (n.-212T>A)
12g.123686845T>CCA387161311TCTN2c.574T>C (p.Ser192Pro)
c.571T>C (p.Ser191Pro)
c.-212T>C (n.-212T>C)
12g.123686845T>GCA387161313TCTN2c.574T>G (p.Ser192Ala)
c.571T>G (p.Ser191Ala)
c.-212T>G (n.-212T>G)
12g.123686846C>ACA387161315TCTN2c.575C>A (p.Ser192Ter)
c.572C>A (p.Ser191Ter)
c.-211C>A (n.-211C>A)
12g.123686846C>GCA387161317TCTN2c.575C>G (p.Ser192Ter)
c.572C>G (p.Ser191Ter)
c.-211C>G (n.-211C>G)
 gnomAD v4
12g.123686846C>TCA387161319TCTN2c.575C>T (p.Ser192Leu)
c.572C>T (p.Ser191Leu)
c.-211C>T (n.-211C>T)
 gnomAD v4
12g.123686847A>CCA482266775TCTN2c.576A>C (p.Ser192=)
c.573A>C (p.Ser191=)
c.-210A>C (n.-210A>C)
12g.123686847A>GCA482266776TCTN2c.576A>G (p.Ser192=)
c.573A>G (p.Ser191=)
c.-210A>G (n.-210A>G)
12g.123686847A>TCA482266777TCTN2c.576A>T (p.Ser192=)
c.573A>T (p.Ser191=)
c.-210A>T (n.-210A>T)
12g.123686848A=CA2068914658TCTN2c.577A= (p.Asn193=)
c.574A= (p.Asn192=)
c.-209A= (n.-209A=)
12g.123686848A>CCA6860934TCTN2c.577A>C (p.Asn193His)
c.574A>C (p.Asn192His)
c.-209A>C (n.-209A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686848A>GCA6860935TCTN2c.577A>G (p.Asn193Asp)
c.574A>G (p.Asn192Asp)
c.-209A>G (n.-209A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.123686848A>TCA387161322TCTN2c.577A>T (p.Asn193Tyr)
c.574A>T (p.Asn192Tyr)
c.-209A>T (n.-209A>T)
12g.123686849A>CCA387161325TCTN2c.578A>C (p.Asn193Thr)
c.575A>C (p.Asn192Thr)
c.-208A>C (n.-208A>C)
 COSMIC
12g.123686849A>GCA387161329TCTN2c.578A>G (p.Asn193Ser)
c.575A>G (p.Asn192Ser)
c.-208A>G (n.-208A>G)
 gnomAD v4
12g.123686849A>TCA387161327TCTN2c.578A>T (p.Asn193Ile)
c.575A>T (p.Asn192Ile)
c.-208A>T (n.-208A>T)
12g.123686850T>ACA387161331TCTN2c.579T>A (p.Asn193Lys)
c.576T>A (p.Asn192Lys)
c.-207T>A (n.-207T>A)
12g.123686850T>CCA482266778TCTN2c.579T>C (p.Asn193=)
c.576T>C (p.Asn192=)
c.-207T>C (n.-207T>C)
12g.123686850T>GCA387161333TCTN2c.579T>G (p.Asn193Lys)
c.576T>G (p.Asn192Lys)
c.-207T>G (n.-207T>G)
12g.123686851T>ACA387161335TCTN2c.580T>A (p.Leu194Ile)
c.577T>A (p.Leu193Ile)
c.-206T>A (n.-206T>A)
12g.123686851T>CCA482266779TCTN2c.580T>C (p.Leu194=)
c.577T>C (p.Leu193=)
c.-206T>C (n.-206T>C)
12g.123686851T>GCA6860936TCTN2c.580T>G (p.Leu194Val)
c.577T>G (p.Leu193Val)
c.-206T>G (n.-206T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686851T=CA2068914661TCTN2c.580T= (p.Leu194=)
c.577T= (p.Leu193=)
c.-206T= (n.-206T=)
12g.123686852T>ACA387161338TCTN2c.581T>A (p.Leu194Ter)
c.578T>A (p.Leu193Ter)
c.-205T>A (n.-205T>A)
12g.123686852T>CCA387161341TCTN2c.581T>C (p.Leu194Ser)
c.578T>C (p.Leu193Ser)
c.-205T>C (n.-205T>C)
12g.123686852T>GCA387161340TCTN2c.581T>G (p.Leu194Ter)
c.578T>G (p.Leu193Ter)
c.-205T>G (n.-205T>G)
12g.123686852_123686855delinsTAACCA2068914665TCTN2c.581_584delinsTAAC (p.Leu194=)
c.578_581delinsTAAC (p.Leu193=)
c.-205_-202delinsTAAC (n.-205_-202delinsTAAC)
12g.123686853A>CCA387161342TCTN2c.582A>C (p.Leu194Phe)
c.579A>C (p.Leu193Phe)
c.-204A>C (n.-204A>C)
12g.123686853A>GCA482266780TCTN2c.582A>G (p.Leu194=)
c.579A>G (p.Leu193=)
c.-204A>G (n.-204A>G)
12g.123686853A>TCA387161344TCTN2c.582A>T (p.Leu194Phe)
c.579A>T (p.Leu193Phe)
c.-204A>T (n.-204A>T)
12g.123686856_123686858delCA245195363TCTN2c.585_587del (p.Thr196del)
c.582_584del (p.Thr195del)
c.-201_-199del (n.-201_-199del)
 dbSNP gnomAD v4
12g.123686854A>CCA387161346TCTN2c.583A>C (p.Thr195Pro)
c.580A>C (p.Thr194Pro)
c.-203A>C (n.-203A>C)
12g.123686854A>GCA387161347TCTN2c.583A>G (p.Thr195Ala)
c.580A>G (p.Thr194Ala)
c.-203A>G (n.-203A>G)
12g.123686854A>TCA387161349TCTN2c.583A>T (p.Thr195Ser)
c.580A>T (p.Thr194Ser)
c.-203A>T (n.-203A>T)
12g.123686855C>ACA387161353TCTN2c.584C>A (p.Thr195Lys)
c.581C>A (p.Thr194Lys)
c.-202C>A (n.-202C>A)
12g.123686855C=CA2068914669TCTN2c.584C= (p.Thr195=)
c.581C= (p.Thr194=)
c.-202C= (n.-202C=)
12g.123686855C>GCA387161354TCTN2c.584C>G (p.Thr195Arg)
c.581C>G (p.Thr194Arg)
c.-202C>G (n.-202C>G)
12g.123686855C>TCA387161356TCTN2c.584C>T (p.Thr195Ile)
c.581C>T (p.Thr194Ile)
c.-202C>T (n.-202C>T)
 dbSNP gnomAD v4
12g.123686856A>CCA482266781TCTN2c.585A>C (p.Thr195=)
c.582A>C (p.Thr194=)
c.-201A>C (n.-201A>C)
12g.123686856A>GCA482266782TCTN2c.585A>G (p.Thr195=)
c.582A>G (p.Thr194=)
c.-201A>G (n.-201A>G)
 ClinVar dbSNP
12g.123686856A>TCA482266783TCTN2c.585A>T (p.Thr195=)
c.582A>T (p.Thr194=)
c.-201A>T (n.-201A>T)
12g.123686857A>CCA387161359TCTN2c.586A>C (p.Thr196Pro)
c.583A>C (p.Thr195Pro)
c.-200A>C (n.-200A>C)
12g.123686857A>GCA387161362TCTN2c.586A>G (p.Thr196Ala)
c.583A>G (p.Thr195Ala)
c.-200A>G (n.-200A>G)
12g.123686857A>TCA387161364TCTN2c.586A>T (p.Thr196Ser)
c.583A>T (p.Thr195Ser)
c.-200A>T (n.-200A>T)
12g.123686858C>ACA387161369TCTN2c.587C>A (p.Thr196Lys)
c.584C>A (p.Thr195Lys)
c.-199C>A (n.-199C>A)
 gnomAD v4
12g.123686858C=CA2068914680TCTN2c.587C= (p.Thr196=)
c.584C= (p.Thr195=)
c.-199C= (n.-199C=)
12g.123686858C>GCA387161366TCTN2c.587C>G (p.Thr196Arg)
c.584C>G (p.Thr195Arg)
c.-199C>G (n.-199C>G)
12g.123686858C>TCA6860937TCTN2c.587C>T (p.Thr196Met)
c.584C>T (p.Thr195Met)
c.-199C>T (n.-199C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686859G>ACA6860938TCTN2c.588G>A (p.Thr196=)
c.585G>A (p.Thr195=)
c.-198G>A (n.-198G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.123686859G>CCA482266784TCTN2c.588G>C (p.Thr196=)
c.585G>C (p.Thr195=)
c.-198G>C (n.-198G>C)
12g.123686859G=CA2068914689TCTN2c.588G= (p.Thr196=)
c.585G= (p.Thr195=)
c.-198G= (n.-198G=)
12g.123686859G>TCA482266785TCTN2c.588G>T (p.Thr196=)
c.585G>T (p.Thr195=)
c.-198G>T (n.-198G>T)
12g.123686860C>ACA387161373TCTN2c.589C>A (p.Leu197Met)
c.586C>A (p.Leu196Met)
c.-197C>A (n.-197C>A)
12g.123686860C>GCA387161374TCTN2c.589C>G (p.Leu197Val)
c.586C>G (p.Leu196Val)
c.-197C>G (n.-197C>G)
12g.123686860C>TCA482266786TCTN2c.589C>T (p.Leu197=)
c.586C>T (p.Leu196=)
c.-197C>T (n.-197C>T)
12g.123686861T>ACA387161376TCTN2c.590T>A (p.Leu197Gln)
c.587T>A (p.Leu196Gln)
c.-196T>A (n.-196T>A)
12g.123686861T>CCA387161378TCTN2c.590T>C (p.Leu197Pro)
c.587T>C (p.Leu196Pro)
c.-196T>C (n.-196T>C)
 ClinVar
12g.123686861T>GCA387161381TCTN2c.590T>G (p.Leu197Arg)
c.587T>G (p.Leu196Arg)
c.-196T>G (n.-196T>G)
12g.123686862G>ACA6860939TCTN2c.591G>A (p.Leu197=)
c.588G>A (p.Leu196=)
c.-195G>A (n.-195G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686862G>CCA482266788TCTN2c.591G>C (p.Leu197=)
c.588G>C (p.Leu196=)
c.-195G>C (n.-195G>C)
 dbSNP gnomAD v3 gnomAD v4
12g.123686862G=CA2068914703TCTN2c.591G= (p.Leu197=)
c.588G= (p.Leu196=)
c.-195G= (n.-195G=)
12g.123686862G>TCA482266787TCTN2c.591G>T (p.Leu197=)
c.588G>T (p.Leu196=)
c.-195G>T (n.-195G>T)
12g.123686863T>ACA387161385TCTN2c.592T>A (p.Phe198Ile)
c.589T>A (p.Phe197Ile)
c.-194T>A (n.-194T>A)
12g.123686863T>CCA387161387TCTN2c.592T>C (p.Phe198Leu)
c.589T>C (p.Phe197Leu)
c.-194T>C (n.-194T>C)
12g.123686863T>GCA387161389TCTN2c.592T>G (p.Phe198Val)
c.589T>G (p.Phe197Val)
c.-194T>G (n.-194T>G)
12g.123686864T>ACA387161393TCTN2c.593T>A (p.Phe198Tyr)
c.590T>A (p.Phe197Tyr)
c.-193T>A (n.-193T>A)
12g.123686864T>CCA387161403TCTN2c.593T>C (p.Phe198Ser)
c.590T>C (p.Phe197Ser)
c.-193T>C (n.-193T>C)
12g.123686864T>GCA387161391TCTN2c.593T>G (p.Phe198Cys)
c.590T>G (p.Phe197Cys)
c.-193T>G (n.-193T>G)
12g.123686865C>ACA387161405TCTN2c.594C>A (p.Phe198Leu)
c.591C>A (p.Phe197Leu)
c.-192C>A (n.-192C>A)
12g.123686865C=CA2068914708TCTN2c.594C= (p.Phe198=)
c.591C= (p.Phe197=)
c.-192C= (n.-192C=)
12g.123686865C>GCA387161406TCTN2c.594C>G (p.Phe198Leu)
c.591C>G (p.Phe197Leu)
c.-192C>G (n.-192C>G)
12g.123686865C>TCA6860940TCTN2c.594C>T (p.Phe198=)
c.591C>T (p.Phe197=)
c.-192C>T (n.-192C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.123686866A>CCA482266792TCTN2c.595A>C (p.Arg199=)
c.592A>C (p.Arg198=)
c.-191A>C (n.-191A>C)
12g.123686866A>GCA387161408TCTN2c.595A>G (p.Arg199Gly)
c.592A>G (p.Arg198Gly)
c.-191A>G (n.-191A>G)
12g.123686866A>TCA387161409TCTN2c.595A>T (p.Arg199Ter)
c.592A>T (p.Arg198Ter)
c.-191A>T (n.-191A>T)
12g.123686867G>ACA387161411TCTN2c.596G>A (p.Arg199Lys)
c.593G>A (p.Arg198Lys)
c.-190G>A (n.-190G>A)
12g.123686867G>CCA387161413TCTN2c.596G>C (p.Arg199Thr)
c.593G>C (p.Arg198Thr)
c.-190G>C (n.-190G>C)
12g.123686867G>TCA387161415TCTN2c.596G>T (p.Arg199Ile)
c.593G>T (p.Arg198Ile)
c.-190G>T (n.-190G>T)
12g.123686868A>CCA387161417TCTN2c.597A>C (p.Arg199Ser)
c.594A>C (p.Arg198Ser)
c.-189A>C (n.-189A>C)
12g.123686868A>GCA482266796TCTN2c.597A>G (p.Arg199=)
c.594A>G (p.Arg198=)
c.-189A>G (n.-189A>G)
12g.123686868A>TCA387161418TCTN2c.597A>T (p.Arg199Ser)
c.594A>T (p.Arg198Ser)
c.-189A>T (n.-189A>T)
12g.123686869C>ACA482266797TCTN2c.598C>A (p.Arg200=)
c.595C>A (p.Arg199=)
c.-188C>A (n.-188C>A)
12g.123686869C=CA2068914712TCTN2c.598C= (p.Arg200=)
c.595C= (p.Arg199=)
c.-188C= (n.-188C=)
12g.123686869C>GCA387161419TCTN2c.598C>G (p.Arg200Gly)
c.595C>G (p.Arg199Gly)
c.-188C>G (n.-188C>G)
12g.123686869C>TCA6860941TCTN2c.598C>T (p.Arg200Trp)
c.595C>T (p.Arg199Trp)
c.-188C>T (n.-188C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686870G>ACA150964TCTN2c.599G>A (p.Arg200Gln)
c.596G>A (p.Arg199Gln)
c.-187G>A (n.-187G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686870G>CCA387161421TCTN2c.599G>C (p.Arg200Pro)
c.596G>C (p.Arg199Pro)
c.-187G>C (n.-187G>C)
12g.123686870G=CA2068914718TCTN2c.599G= (p.Arg200=)
c.596G= (p.Arg199=)
c.-187G= (n.-187G=)
12g.123686870G>TCA387161423TCTN2c.599G>T (p.Arg200Leu)
c.596G>T (p.Arg199Leu)
c.-187G>T (n.-187G>T)
 gnomAD v4 COSMIC
12g.123686871G>ACA6860942TCTN2c.600G>A (p.Arg200=)
c.597G>A (p.Arg199=)
c.-186G>A (n.-186G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.123686871G>CCA482266798TCTN2c.600G>C (p.Arg200=)
c.597G>C (p.Arg199=)
c.-186G>C (n.-186G>C)
12g.123686871G=CA2068914727TCTN2c.600G= (p.Arg200=)
c.597G= (p.Arg199=)
c.-186G= (n.-186G=)
12g.123686871G>TCA482266799TCTN2c.600G>T (p.Arg200=)
c.597G>T (p.Arg199=)
c.-186G>T (n.-186G>T)
 COSMIC
12g.123686872T>ACA387161432TCTN2c.601T>A (p.Ser201Thr)
c.598T>A (p.Ser200Thr)
c.-185T>A (n.-185T>A)
 gnomAD v4
12g.123686872T>CCA387161433TCTN2c.601T>C (p.Ser201Pro)
c.598T>C (p.Ser200Pro)
c.-185T>C (n.-185T>C)
12g.123686872T>GCA387161436TCTN2c.601T>G (p.Ser201Ala)
c.598T>G (p.Ser200Ala)
c.-185T>G (n.-185T>G)
12g.123686873C>ACA387161439TCTN2c.602C>A (p.Ser201Tyr)
c.599C>A (p.Ser200Tyr)
c.-184C>A (n.-184C>A)
12g.123686873C>GCA387161443TCTN2c.602C>G (p.Ser201Cys)
c.599C>G (p.Ser200Cys)
c.-184C>G (n.-184C>G)
12g.123686873C>TCA387161446TCTN2c.602C>T (p.Ser201Phe)
c.599C>T (p.Ser200Phe)
c.-184C>T (n.-184C>T)
 gnomAD v4
12g.123686874C>ACA482266803TCTN2c.603C>A (p.Ser201=)
c.600C>A (p.Ser200=)
c.-183C>A (n.-183C>A)
12g.123686874C=CA2068914735TCTN2c.603C= (p.Ser201=)
c.600C= (p.Ser200=)
c.-183C= (n.-183C=)
12g.123686874C>GCA482266804TCTN2c.603C>G (p.Ser201=)
c.600C>G (p.Ser200=)
c.-183C>G (n.-183C>G)
12g.123686874C>TCA482266805TCTN2c.603C>T (p.Ser201=)
c.600C>T (p.Ser200=)
c.-183C>T (n.-183C>T)
 dbSNP
12g.123686875T>ACA387161452TCTN2c.604T>A (p.Cys202Ser)
c.601T>A (p.Cys201Ser)
c.-182T>A (n.-182T>A)
12g.123686875T>CCA387161458TCTN2c.604T>C (p.Cys202Arg)
c.601T>C (p.Cys201Arg)
c.-182T>C (n.-182T>C)
12g.123686875T>GCA387161462TCTN2c.604T>G (p.Cys202Gly)
c.601T>G (p.Cys201Gly)
c.-182T>G (n.-182T>G)
12g.123686876G>ACA387161463TCTN2c.605G>A (p.Cys202Tyr)
c.602G>A (p.Cys201Tyr)
c.-181G>A (n.-181G>A)
12g.123686876G>CCA387161464TCTN2c.605G>C (p.Cys202Ser)
c.602G>C (p.Cys201Ser)
c.-181G>C (n.-181G>C)
12g.123686876G>TCA387161465TCTN2c.605G>T (p.Cys202Phe)
c.602G>T (p.Cys201Phe)
c.-181G>T (n.-181G>T)
12g.123686877C>ACA387161472TCTN2c.606C>A (p.Cys202Ter)
c.603C>A (p.Cys201Ter)
c.-180C>A (n.-180C>A)
12g.123686877C>GCA387161469TCTN2c.606C>G (p.Cys202Trp)
c.603C>G (p.Cys201Trp)
c.-180C>G (n.-180C>G)
12g.123686877C>TCA482266807TCTN2c.606C>T (p.Cys202=)
c.603C>T (p.Cys201=)
c.-180C>T (n.-180C>T)
12g.123686878T>ACA387161476TCTN2c.607T>A (p.Phe203Ile)
c.604T>A (p.Phe202Ile)
c.-179T>A (n.-179T>A)
12g.123686878T>CCA387161479TCTN2c.607T>C (p.Phe203Leu)
c.604T>C (p.Phe202Leu)
c.-179T>C (n.-179T>C)
 gnomAD v4
12g.123686878T>GCA387161484TCTN2c.607T>G (p.Phe203Val)
c.604T>G (p.Phe202Val)
c.-179T>G (n.-179T>G)
 COSMIC
12g.123686879T>ACA387161487TCTN2c.608T>A (p.Phe203Tyr)
c.605T>A (p.Phe202Tyr)
c.-178T>A (n.-178T>A)
12g.123686879T>CCA387161488TCTN2c.608T>C (p.Phe203Ser)
c.605T>C (p.Phe202Ser)
c.-178T>C (n.-178T>C)
12g.123686879T>GCA387161489TCTN2c.608T>G (p.Phe203Cys)
c.605T>G (p.Phe202Cys)
c.-178T>G (n.-178T>G)
12g.123686880C>ACA387161491TCTN2c.609C>A (p.Phe203Leu)
c.606C>A (p.Phe202Leu)
c.-177C>A (n.-177C>A)
12g.123686880C=CA2068914737TCTN2c.609C= (p.Phe203=)
c.606C= (p.Phe202=)
c.-177C= (n.-177C=)
12g.123686880C>GCA387161492TCTN2c.609C>G (p.Phe203Leu)
c.606C>G (p.Phe202Leu)
c.-177C>G (n.-177C>G)
12g.123686880C>TCA482266808TCTN2c.609C>T (p.Phe203=)
c.606C>T (p.Phe202=)
c.-177C>T (n.-177C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.123686881A>CCA387161498TCTN2c.610A>C (p.Thr204Pro)
c.607A>C (p.Thr203Pro)
c.-176A>C (n.-176A>C)
12g.123686881A>GCA387161508TCTN2c.610A>G (p.Thr204Ala)
c.607A>G (p.Thr203Ala)
c.-176A>G (n.-176A>G)
12g.123686881A>TCA387161506TCTN2c.610A>T (p.Thr204Ser)
c.607A>T (p.Thr203Ser)
c.-176A>T (n.-176A>T)
12g.123686882C>ACA387161512TCTN2c.611C>A (p.Thr204Asn)
c.608C>A (p.Thr203Asn)
c.-175C>A (n.-175C>A)
 COSMIC
12g.123686882C=CA2068914742TCTN2c.611C= (p.Thr204=)
c.608C= (p.Thr203=)
c.-175C= (n.-175C=)
12g.123686882C>GCA387161517TCTN2c.611C>G (p.Thr204Ser)
c.608C>G (p.Thr203Ser)
c.-175C>G (n.-175C>G)
 gnomAD v4
12g.123686882C>TCA245195416TCTN2c.611C>T (p.Thr204Ile)
c.608C>T (p.Thr203Ile)
c.-175C>T (n.-175C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.123686883C>ACA482266811TCTN2c.612C>A (p.Thr204=)
c.609C>A (p.Thr203=)
c.-174C>A (n.-174C>A)
12g.123686883C=CA2068914752TCTN2c.612C= (p.Thr204=)
c.609C= (p.Thr203=)
c.-174C= (n.-174C=)
12g.123686883C>GCA482266812TCTN2c.612C>G (p.Thr204=)
c.609C>G (p.Thr203=)
c.-174C>G (n.-174C>G)
12g.123686883C>TCA6860943TCTN2c.612C>T (p.Thr204=)
c.609C>T (p.Thr203=)
c.-174C>T (n.-174C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686884G>ACA245195428TCTN2c.613G>A (p.Gly205Ser)
c.610G>A (p.Gly204Ser)
c.-173G>A (n.-173G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.123686884G>CCA387161528TCTN2c.613G>C (p.Gly205Arg)
c.610G>C (p.Gly204Arg)
c.-173G>C (n.-173G>C)
12g.123686884G=CA2068914770TCTN2c.613G= (p.Gly205=)
c.610G= (p.Gly204=)
c.-173G= (n.-173G=)
12g.123686884G>TCA210323TCTN2c.613G>T (p.Gly205Cys)
c.610G>T (p.Gly204Cys)
c.-173G>T (n.-173G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686885G>ACA387161531TCTN2c.614G>A (p.Gly205Asp)
c.611G>A (p.Gly204Asp)
c.-172G>A (n.-172G>A)
12g.123686885G>CCA387161534TCTN2c.614G>C (p.Gly205Ala)
c.611G>C (p.Gly204Ala)
c.-172G>C (n.-172G>C)
12g.123686885G>TCA387161537TCTN2c.614G>T (p.Gly205Val)
c.611G>T (p.Gly204Val)
c.-172G>T (n.-172G>T)
 gnomAD v4
12g.123686886C>ACA6860944TCTN2c.615C>A (p.Gly205=)
c.612C>A (p.Gly204=)
c.-171C>A (n.-171C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686886C=CA2068914785TCTN2c.615C= (p.Gly205=)
c.612C= (p.Gly204=)
c.-171C= (n.-171C=)
12g.123686886C>GCA482266813TCTN2c.615C>G (p.Gly205=)
c.612C>G (p.Gly204=)
c.-171C>G (n.-171C>G)
12g.123686886C>TCA203333TCTN2c.615C>T (p.Gly205=)
c.612C>T (p.Gly204=)
c.-171C>T (n.-171C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.123686887G>ACA387161541TCTN2c.616G>A (p.Val206Met)
c.613G>A (p.Val205Met)
c.-170G>A (n.-170G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.123686887G>CCA387161544TCTN2c.616G>C (p.Val206Leu)
c.613G>C (p.Val205Leu)
c.-170G>C (n.-170G>C)
12g.123686887G=CA2068914792TCTN2c.616G= (p.Val206=)
c.613G= (p.Val205=)
c.-170G= (n.-170G=)
12g.123686887G>TCA387161546TCTN2c.616G>T (p.Val206Leu)
c.613G>T (p.Val205Leu)
c.-170G>T (n.-170G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.123686888T>ACA387161554TCTN2c.617T>A (p.Val206Glu)
c.614T>A (p.Val205Glu)
c.-169T>A (n.-169T>A)
12g.123686888T>CCA387161556TCTN2c.617T>C (p.Val206Ala)
c.614T>C (p.Val205Ala)
c.-169T>C (n.-169T>C)
12g.123686888T>GCA387161557TCTN2c.617T>G (p.Val206Gly)
c.614T>G (p.Val205Gly)
c.-169T>G (n.-169T>G)
12g.123686889G>ACA6860945TCTN2c.618G>A (p.Val206=)
c.615G>A (p.Val205=)
c.-168G>A (n.-168G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.123686889G>CCA482266816TCTN2c.618G>C (p.Val206=)
c.615G>C (p.Val205=)
c.-168G>C (n.-168G>C)
12g.123686889G=CA2068914800TCTN2c.618G= (p.Val206=)
c.615G= (p.Val205=)
c.-168G= (n.-168G=)
12g.123686889G>TCA482266815TCTN2c.618G>T (p.Val206=)
c.615G>T (p.Val205=)
c.-168G>T (n.-168G>T)
12g.123686890T>ACA387161562TCTN2c.619T>A (p.Phe207Ile)
c.616T>A (p.Phe206Ile)
c.-167T>A (n.-167T>A)
 dbSNP gnomAD v3 gnomAD v4
12g.123686890T>CCA387161565TCTN2c.619T>C (p.Phe207Leu)
c.616T>C (p.Phe206Leu)
c.-167T>C (n.-167T>C)
12g.123686890T>GCA387161564TCTN2c.619T>G (p.Phe207Val)
c.616T>G (p.Phe206Val)
c.-167T>G (n.-167T>G)
12g.123686890T=CA2068914811TCTN2c.619T= (p.Phe207=)
c.616T= (p.Phe206=)
c.-167T= (n.-167T=)
12g.123686891T>ACA387161566TCTN2c.620T>A (p.Phe207Tyr)
c.617T>A (p.Phe206Tyr)
c.-166T>A (n.-166T>A)
12g.123686891T>CCA387161567TCTN2c.620T>C (p.Phe207Ser)
c.617T>C (p.Phe206Ser)
c.-166T>C (n.-166T>C)
12g.123686891T>GCA387161568TCTN2c.620T>G (p.Phe207Cys)
c.617T>G (p.Phe206Cys)
c.-166T>G (n.-166T>G)
12g.123686892T>ACA387161571TCTN2c.621T>A (p.Phe207Leu)
c.618T>A (p.Phe206Leu)
c.-165T>A (n.-165T>A)
12g.123686892T>CCA482266820TCTN2c.621T>C (p.Phe207=)
c.618T>C (p.Phe206=)
c.-165T>C (n.-165T>C)
12g.123686892T>GCA387161580TCTN2c.621T>G (p.Phe207Leu)
c.618T>G (p.Phe206Leu)
c.-165T>G (n.-165T>G)
 gnomAD v4
12g.123686893G>ACA387161581TCTN2c.622G>A (p.Gly208Arg)
c.619G>A (p.Gly207Arg)
c.-164G>A (n.-164G>A)
12g.123686893G>CCA245195449TCTN2c.622G>C (p.Gly208Arg)
c.619G>C (p.Gly207Arg)
c.-164G>C (n.-164G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.123686893G=CA2068914815TCTN2c.622G= (p.Gly208=)
c.619G= (p.Gly207=)
c.-164G= (n.-164G=)
12g.123686893G>TCA387161587TCTN2c.622G>T (p.Gly208Ter)
c.619G>T (p.Gly207Ter)
c.-164G>T (n.-164G>T)
12g.123686894G>ACA387161591TCTN2c.623G>A (p.Gly208Glu)
c.620G>A (p.Gly207Glu)
c.-163G>A (n.-163G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.123686894G>CCA387161594TCTN2c.623G>C (p.Gly208Ala)
c.620G>C (p.Gly207Ala)
c.-163G>C (n.-163G>C)
12g.123686894G=CA2068914819TCTN2c.623G= (p.Gly208=)
c.620G= (p.Gly207=)
c.-163G= (n.-163G=)
12g.123686894G>TCA387161596TCTN2c.623G>T (p.Gly208Val)
c.620G>T (p.Gly207Val)
c.-163G>T (n.-163G>T)
12g.123686895A>CCA482266821TCTN2c.624A>C (p.Gly208=)
c.621A>C (p.Gly207=)
c.-162A>C (n.-162A>C)
12g.123686895A>GCA482266822TCTN2c.624A>G (p.Gly208=)
c.621A>G (p.Gly207=)
c.-162A>G (n.-162A>G)
12g.123686895A>TCA482266824TCTN2c.624A>T (p.Gly208=)
c.621A>T (p.Gly207=)
c.-162A>T (n.-162A>T)
12g.123686896G>ACA387161606TCTN2c.625G>A (p.Gly209Arg)
c.622G>A (p.Gly208Arg)
c.-161G>A (n.-161G>A)
12g.123686896G>CCA387161604TCTN2c.625G>C (p.Gly209Arg)
c.622G>C (p.Gly208Arg)
c.-161G>C (n.-161G>C)
12g.123686896G>TCA387161601TCTN2c.625G>T (p.Gly209Ter)
c.622G>T (p.Gly208Ter)
c.-161G>T (n.-161G>T)
12g.123686897G>ACA387161608TCTN2c.626G>A (p.Gly209Glu)
c.623G>A (p.Gly208Glu)
c.-160G>A (n.-160G>A)
12g.123686897G>CCA387161609TCTN2c.626G>C (p.Gly209Ala)
c.623G>C (p.Gly208Ala)
c.-160G>C (n.-160G>C)
12g.123686897G>TCA387161613TCTN2c.626G>T (p.Gly209Val)
c.623G>T (p.Gly208Val)
c.-160G>T (n.-160G>T)
12g.123686898A>CCA482266826TCTN2c.627A>C (p.Gly209=)
c.624A>C (p.Gly208=)
c.-159A>C (n.-159A>C)
12g.123686898A>GCA482266827TCTN2c.627A>G (p.Gly209=)
c.624A>G (p.Gly208=)
c.-159A>G (n.-159A>G)
12g.123686898A>TCA482266828TCTN2c.627A>T (p.Gly209=)
c.624A>T (p.Gly208=)
c.-159A>T (n.-159A>T)
12g.123686899G>ACA387161617TCTN2c.628G>A (p.Asp210Asn)
c.625G>A (p.Asp209Asn)
c.-158G>A (n.-158G>A)
12g.123686899G>CCA387161619TCTN2c.628G>C (p.Asp210His)
c.625G>C (p.Asp209His)
c.-158G>C (n.-158G>C)
12g.123686899G>TCA387161622TCTN2c.628G>T (p.Asp210Tyr)
c.625G>T (p.Asp209Tyr)
c.-158G>T (n.-158G>T)

Number of alleles fetched