Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.133756825C=CA1403107118TFc.692-6C= (n.692-6C=)
c.311-6C= (n.311-6C=)
c.158-107C= (n.158-107C=)
c.560-6C= (n.560-6C=)
3g.133756825C>TCA2625074TFc.692-6C>T (n.692-6C>T)
c.311-6C>T (n.311-6C>T)
c.158-107C>T (n.158-107C>T)
c.560-6C>T (n.560-6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133756826C>TCA2697556869TFc.692-5C>T (n.692-5C>T)
c.311-5C>T (n.311-5C>T)
c.158-106C>T (n.158-106C>T)
c.560-5C>T (n.560-5C>T)
 ClinVar
3g.133756828C=CA1403107122TFc.692-3C= (n.692-3C=)
c.311-3C= (n.311-3C=)
c.158-104C= (n.158-104C=)
c.560-3C= (n.560-3C=)
3g.133756828C>GCA1403107124TFc.692-3C>G (n.692-3C>G)
c.311-3C>G (n.311-3C>G)
c.158-104C>G (n.158-104C>G)
c.560-3C>G (n.560-3C>G)
 dbSNP
3g.133756829A>CCA354604562TFc.692-2A>C (n.692-2A>C)
c.311-2A>C (n.311-2A>C)
c.158-103A>C (n.158-103A>C)
c.560-2A>C (n.560-2A>C)
3g.133756829A>GCA354604563TFc.692-2A>G (n.692-2A>G)
c.311-2A>G (n.311-2A>G)
c.158-103A>G (n.158-103A>G)
c.560-2A>G (n.560-2A>G)
3g.133756829A>TCA354604565TFc.692-2A>T (n.692-2A>T)
c.311-2A>T (n.311-2A>T)
c.158-103A>T (n.158-103A>T)
c.560-2A>T (n.560-2A>T)
3g.133756830G>ACA354604568TFc.692-1G>A (n.692-1G>A)
c.311-1G>A (n.311-1G>A)
c.158-102G>A (n.158-102G>A)
c.560-1G>A (n.560-1G>A)
3g.133756830G>CCA354604569TFc.692-1G>C (n.692-1G>C)
c.311-1G>C (n.311-1G>C)
c.158-102G>C (n.158-102G>C)
c.560-1G>C (n.560-1G>C)
3g.133756830G>TCA354604572TFc.692-1G>T (n.692-1G>T)
c.311-1G>T (n.311-1G>T)
c.158-102G>T (n.158-102G>T)
c.560-1G>T (n.560-1G>T)
3g.133756831A>CCA354604577TFc.692A>C (p.Glu231Ala)
c.311A>C (p.Glu104Ala)
c.158-101A>C (n.158-101A>C)
c.560A>C (p.Glu187Ala)
3g.133756831A>GCA354604575TFc.692A>G (p.Glu231Gly)
c.311A>G (p.Glu104Gly)
c.158-101A>G (n.158-101A>G)
c.560A>G (p.Glu187Gly)
 gnomAD v4
3g.133756831A>TCA354604573TFc.692A>T (p.Glu231Val)
c.311A>T (p.Glu104Val)
c.158-101A>T (n.158-101A>T)
c.560A>T (p.Glu187Val)
3g.133756832G>ACA435806155TFc.693G>A (p.Glu231=)
c.312G>A (p.Glu104=)
c.158-100G>A (n.158-100G>A)
c.561G>A (p.Glu187=)
3g.133756832G>CCA354604579TFc.693G>C (p.Glu231Asp)
c.312G>C (p.Glu104Asp)
c.158-100G>C (n.158-100G>C)
c.561G>C (p.Glu187Asp)
3g.133756832G>TCA354604581TFc.693G>T (p.Glu231Asp)
c.312G>T (p.Glu104Asp)
c.158-100G>T (n.158-100G>T)
c.561G>T (p.Glu187Asp)
3g.133756833A>CCA354604585TFc.694A>C (p.Asn232His)
c.313A>C (p.Asn105His)
c.158-99A>C (n.158-99A>C)
c.562A>C (p.Asn188His)
3g.133756833A>GCA354604587TFc.694A>G (p.Asn232Asp)
c.313A>G (p.Asn105Asp)
c.158-99A>G (n.158-99A>G)
c.562A>G (p.Asn188Asp)
3g.133756833A>TCA354604589TFc.694A>T (p.Asn232Tyr)
c.313A>T (p.Asn105Tyr)
c.158-99A>T (n.158-99A>T)
c.562A>T (p.Asn188Tyr)
3g.133756834A>CCA354604591TFc.695A>C (p.Asn232Thr)
c.314A>C (p.Asn105Thr)
c.158-98A>C (n.158-98A>C)
c.563A>C (p.Asn188Thr)
3g.133756834A>GCA354604593TFc.695A>G (p.Asn232Ser)
c.314A>G (p.Asn105Ser)
c.158-98A>G (n.158-98A>G)
c.563A>G (p.Asn188Ser)
 COSMIC
3g.133756834A>TCA354604594TFc.695A>T (p.Asn232Ile)
c.314A>T (p.Asn105Ile)
c.158-98A>T (n.158-98A>T)
c.563A>T (p.Asn188Ile)
3g.133756835C>ACA354604596TFc.696C>A (p.Asn232Lys)
c.315C>A (p.Asn105Lys)
c.158-97C>A (n.158-97C>A)
c.564C>A (p.Asn188Lys)
 COSMIC
3g.133756835C>GCA354604598TFc.696C>G (p.Asn232Lys)
c.315C>G (p.Asn105Lys)
c.158-97C>G (n.158-97C>G)
c.564C>G (p.Asn188Lys)
3g.133756835C>TCA435806166TFc.696C>T (p.Asn232=)
c.315C>T (p.Asn105=)
c.158-97C>T (n.158-97C>T)
c.564C>T (p.Asn188=)
3g.133756836T>ACA354604600TFc.697T>A (p.Leu233Met)
c.316T>A (p.Leu106Met)
c.158-96T>A (n.158-96T>A)
c.565T>A (p.Leu189Met)
3g.133756836T>CCA435806168TFc.697T>C (p.Leu233=)
c.316T>C (p.Leu106=)
c.158-96T>C (n.158-96T>C)
c.565T>C (p.Leu189=)
3g.133756836T>GCA354604603TFc.697T>G (p.Leu233Val)
c.316T>G (p.Leu106Val)
c.158-96T>G (n.158-96T>G)
c.565T>G (p.Leu189Val)
3g.133756837T>ACA354604609TFc.698T>A (p.Leu233Ter)
c.317T>A (p.Leu106Ter)
c.158-95T>A (n.158-95T>A)
c.566T>A (p.Leu189Ter)
3g.133756837T>CCA2625075TFc.698T>C (p.Leu233Ser)
c.317T>C (p.Leu106Ser)
c.158-95T>C (n.158-95T>C)
c.566T>C (p.Leu189Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756837T>GCA354604606TFc.698T>G (p.Leu233Trp)
c.317T>G (p.Leu106Trp)
c.158-95T>G (n.158-95T>G)
c.566T>G (p.Leu189Trp)
3g.133756837T=CA1403107129TFc.698T= (p.Leu233=)
c.317T= (p.Leu106=)
c.158-95T= (n.158-95T=)
c.566T= (p.Leu189=)
3g.133756838G>ACA435806177TFc.699G>A (p.Leu233=)
c.318G>A (p.Leu106=)
c.158-94G>A (n.158-94G>A)
c.567G>A (p.Leu189=)
3g.133756838G>CCA354604610TFc.699G>C (p.Leu233Phe)
c.318G>C (p.Leu106Phe)
c.158-94G>C (n.158-94G>C)
c.567G>C (p.Leu189Phe)
3g.133756838G>TCA354604611TFc.699G>T (p.Leu233Phe)
c.318G>T (p.Leu106Phe)
c.158-94G>T (n.158-94G>T)
c.567G>T (p.Leu189Phe)
 gnomAD v4
3g.133756839G>ACA354604612TFc.700G>A (p.Ala234Thr)
c.319G>A (p.Ala107Thr)
c.158-93G>A (n.158-93G>A)
c.568G>A (p.Ala190Thr)
3g.133756839G>CCA354604613TFc.700G>C (p.Ala234Pro)
c.319G>C (p.Ala107Pro)
c.158-93G>C (n.158-93G>C)
c.568G>C (p.Ala190Pro)
3g.133756839G>TCA354604615TFc.700G>T (p.Ala234Ser)
c.319G>T (p.Ala107Ser)
c.158-93G>T (n.158-93G>T)
c.568G>T (p.Ala190Ser)
3g.133756840C>ACA354604616TFc.701C>A (p.Ala234Glu)
c.320C>A (p.Ala107Glu)
c.158-92C>A (n.158-92C>A)
c.569C>A (p.Ala190Glu)
 dbSNP gnomAD v3 gnomAD v4
3g.133756840C=CA1403107133TFc.701C= (p.Ala234=)
c.320C= (p.Ala107=)
c.158-92C= (n.158-92C=)
c.569C= (p.Ala190=)
3g.133756840C>GCA354604617TFc.701C>G (p.Ala234Gly)
c.320C>G (p.Ala107Gly)
c.158-92C>G (n.158-92C>G)
c.569C>G (p.Ala190Gly)
3g.133756840C>TCA2625076TFc.701C>T (p.Ala234Val)
c.320C>T (p.Ala107Val)
c.158-92C>T (n.158-92C>T)
c.569C>T (p.Ala190Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133756841A>CCA435806190TFc.702A>C (p.Ala234=)
c.321A>C (p.Ala107=)
c.158-91A>C (n.158-91A>C)
c.570A>C (p.Ala190=)
3g.133756841A>GCA435806192TFc.702A>G (p.Ala234=)
c.321A>G (p.Ala107=)
c.158-91A>G (n.158-91A>G)
c.570A>G (p.Ala190=)
 gnomAD v4
3g.133756841A>TCA435806188TFc.702A>T (p.Ala234=)
c.321A>T (p.Ala107=)
c.158-91A>T (n.158-91A>T)
c.570A>T (p.Ala190=)
3g.133756842A>CCA354604618TFc.703A>C (p.Asn235His)
c.322A>C (p.Asn108His)
c.158-90A>C (n.158-90A>C)
c.571A>C (p.Asn191His)
3g.133756842A>GCA354604619TFc.703A>G (p.Asn235Asp)
c.322A>G (p.Asn108Asp)
c.158-90A>G (n.158-90A>G)
c.571A>G (p.Asn191Asp)
 gnomAD v4
3g.133756842A>TCA354604620TFc.703A>T (p.Asn235Tyr)
c.322A>T (p.Asn108Tyr)
c.158-90A>T (n.158-90A>T)
c.571A>T (p.Asn191Tyr)
3g.133756843A=CA1403107136TFc.704A= (p.Asn235=)
c.323A= (p.Asn108=)
c.158-89A= (n.158-89A=)
c.572A= (p.Asn191=)
3g.133756843A>CCA354604621TFc.704A>C (p.Asn235Thr)
c.323A>C (p.Asn108Thr)
c.158-89A>C (n.158-89A>C)
c.572A>C (p.Asn191Thr)
3g.133756843A>GCA2625077TFc.704A>G (p.Asn235Ser)
c.323A>G (p.Asn108Ser)
c.158-89A>G (n.158-89A>G)
c.572A>G (p.Asn191Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756843A>TCA354604623TFc.704A>T (p.Asn235Ile)
c.323A>T (p.Asn108Ile)
c.158-89A>T (n.158-89A>T)
c.572A>T (p.Asn191Ile)
3g.133756844C>ACA354604625TFc.705C>A (p.Asn235Lys)
c.324C>A (p.Asn108Lys)
c.158-88C>A (n.158-88C>A)
c.573C>A (p.Asn191Lys)
3g.133756844C=CA1403107139TFc.705C= (p.Asn235=)
c.324C= (p.Asn108=)
c.158-88C= (n.158-88C=)
c.573C= (p.Asn191=)
3g.133756844C>GCA83674493TFc.705C>G (p.Asn235Lys)
c.324C>G (p.Asn108Lys)
c.158-88C>G (n.158-88C>G)
c.573C>G (p.Asn191Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.133756844C>TCA435806202TFc.705C>T (p.Asn235=)
c.324C>T (p.Asn108=)
c.158-88C>T (n.158-88C>T)
c.573C>T (p.Asn191=)
3g.133756845A=CA1403107141TFc.706A= (p.Lys236=)
c.325A= (p.Lys109=)
c.158-87A= (n.158-87A=)
c.574A= (p.Lys192=)
3g.133756845A>CCA354604630TFc.706A>C (p.Lys236Gln)
c.325A>C (p.Lys109Gln)
c.158-87A>C (n.158-87A>C)
c.574A>C (p.Lys192Gln)
3g.133756845A>GCA2625078TFc.706A>G (p.Lys236Glu)
c.325A>G (p.Lys109Glu)
c.158-87A>G (n.158-87A>G)
c.574A>G (p.Lys192Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756845A>TCA354604633TFc.706A>T (p.Lys236Ter)
c.325A>T (p.Lys109Ter)
c.158-87A>T (n.158-87A>T)
c.574A>T (p.Lys192Ter)
3g.133756846A=CA1403107142TFc.707A= (p.Lys236=)
c.326A= (p.Lys109=)
c.158-86A= (n.158-86A=)
c.575A= (p.Lys192=)
3g.133756846A>CCA354604636TFc.707A>C (p.Lys236Thr)
c.326A>C (p.Lys109Thr)
c.158-86A>C (n.158-86A>C)
c.575A>C (p.Lys192Thr)
 dbSNP
3g.133756846A>GCA354604638TFc.707A>G (p.Lys236Arg)
c.326A>G (p.Lys109Arg)
c.158-86A>G (n.158-86A>G)
c.575A>G (p.Lys192Arg)
3g.133756846A>TCA354604640TFc.707A>T (p.Lys236Met)
c.326A>T (p.Lys109Met)
c.158-86A>T (n.158-86A>T)
c.575A>T (p.Lys192Met)
3g.133756847G>ACA435806213TFc.708G>A (p.Lys236=)
c.327G>A (p.Lys109=)
c.158-85G>A (n.158-85G>A)
c.576G>A (p.Lys192=)
 dbSNP
3g.133756847G>CCA354604642TFc.708G>C (p.Lys236Asn)
c.327G>C (p.Lys109Asn)
c.158-85G>C (n.158-85G>C)
c.576G>C (p.Lys192Asn)
3g.133756847G=CA1403107145TFc.708G= (p.Lys236=)
c.327G= (p.Lys109=)
c.158-85G= (n.158-85G=)
c.576G= (p.Lys192=)
3g.133756847G>TCA354604644TFc.708G>T (p.Lys236Asn)
c.327G>T (p.Lys109Asn)
c.158-85G>T (n.158-85G>T)
c.576G>T (p.Lys192Asn)
3g.133756848G>ACA354604646TFc.709G>A (p.Ala237Thr)
c.328G>A (p.Ala110Thr)
c.158-84G>A (n.158-84G>A)
c.577G>A (p.Ala193Thr)
 gnomAD v4
3g.133756848G>CCA354604648TFc.709G>C (p.Ala237Pro)
c.328G>C (p.Ala110Pro)
c.158-84G>C (n.158-84G>C)
c.577G>C (p.Ala193Pro)
3g.133756848G>TCA354604651TFc.709G>T (p.Ala237Ser)
c.328G>T (p.Ala110Ser)
c.158-84G>T (n.158-84G>T)
c.577G>T (p.Ala193Ser)
3g.133756849C>ACA354604656TFc.710C>A (p.Ala237Asp)
c.329C>A (p.Ala110Asp)
c.158-83C>A (n.158-83C>A)
c.578C>A (p.Ala193Asp)
3g.133756849C=CA1403107147TFc.710C= (p.Ala237=)
c.329C= (p.Ala110=)
c.158-83C= (n.158-83C=)
c.578C= (p.Ala193=)
3g.133756849C>GCA354604654TFc.710C>G (p.Ala237Gly)
c.329C>G (p.Ala110Gly)
c.158-83C>G (n.158-83C>G)
c.578C>G (p.Ala193Gly)
3g.133756849C>TCA354604653TFc.710C>T (p.Ala237Val)
c.329C>T (p.Ala110Val)
c.158-83C>T (n.158-83C>T)
c.578C>T (p.Ala193Val)
 dbSNP
3g.133756850T>ACA435806222TFc.711T>A (p.Ala237=)
c.330T>A (p.Ala110=)
c.158-82T>A (n.158-82T>A)
c.579T>A (p.Ala193=)
3g.133756850T>CCA435806223TFc.711T>C (p.Ala237=)
c.330T>C (p.Ala110=)
c.158-82T>C (n.158-82T>C)
c.579T>C (p.Ala193=)
3g.133756850T>GCA435806225TFc.711T>G (p.Ala237=)
c.330T>G (p.Ala110=)
c.158-82T>G (n.158-82T>G)
c.579T>G (p.Ala193=)
3g.133756851G>ACA354604658TFc.712G>A (p.Asp238Asn)
c.331G>A (p.Asp111Asn)
c.158-81G>A (n.158-81G>A)
c.580G>A (p.Asp194Asn)
 gnomAD v4
3g.133756851G>CCA354604661TFc.712G>C (p.Asp238His)
c.331G>C (p.Asp111His)
c.158-81G>C (n.158-81G>C)
c.580G>C (p.Asp194His)
3g.133756851G>TCA354604663TFc.712G>T (p.Asp238Tyr)
c.331G>T (p.Asp111Tyr)
c.158-81G>T (n.158-81G>T)
c.580G>T (p.Asp194Tyr)
3g.133756852A>CCA354604666TFc.713A>C (p.Asp238Ala)
c.332A>C (p.Asp111Ala)
c.158-80A>C (n.158-80A>C)
c.581A>C (p.Asp194Ala)
3g.133756852A>GCA354604668TFc.713A>G (p.Asp238Gly)
c.332A>G (p.Asp111Gly)
c.158-80A>G (n.158-80A>G)
c.581A>G (p.Asp194Gly)
 gnomAD v4
3g.133756852A>TCA354604669TFc.713A>T (p.Asp238Val)
c.332A>T (p.Asp111Val)
c.158-80A>T (n.158-80A>T)
c.581A>T (p.Asp194Val)
3g.133756853C>ACA354604671TFc.714C>A (p.Asp238Glu)
c.333C>A (p.Asp111Glu)
c.158-79C>A (n.158-79C>A)
c.582C>A (p.Asp194Glu)
 dbSNP gnomAD v2
3g.133756853C=CA1403107150TFc.714C= (p.Asp238=)
c.333C= (p.Asp111=)
c.158-79C= (n.158-79C=)
c.582C= (p.Asp194=)
3g.133756853C>GCA83674497TFc.714C>G (p.Asp238Glu)
c.333C>G (p.Asp111Glu)
c.158-79C>G (n.158-79C>G)
c.582C>G (p.Asp194Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133756853C>TCA435806236TFc.714C>T (p.Asp238=)
c.333C>T (p.Asp111=)
c.158-79C>T (n.158-79C>T)
c.582C>T (p.Asp194=)
3g.133756854A=CA1403107152TFc.715A= (p.Arg239=)
c.334A= (p.Arg112=)
c.158-78A= (n.158-78A=)
c.583A= (p.Arg195=)
3g.133756854A>CCA435806238TFc.715A>C (p.Arg239=)
c.334A>C (p.Arg112=)
c.158-78A>C (n.158-78A>C)
c.583A>C (p.Arg195=)
3g.133756854A>GCA354604674TFc.715A>G (p.Arg239Gly)
c.334A>G (p.Arg112Gly)
c.158-78A>G (n.158-78A>G)
c.583A>G (p.Arg195Gly)
 dbSNP gnomAD v3 gnomAD v4
3g.133756854A>TCA354604676TFc.715A>T (p.Arg239Trp)
c.334A>T (p.Arg112Trp)
c.158-78A>T (n.158-78A>T)
c.583A>T (p.Arg195Trp)
3g.133756855G>ACA354604678TFc.716G>A (p.Arg239Lys)
c.335G>A (p.Arg112Lys)
c.158-77G>A (n.158-77G>A)
c.584G>A (p.Arg195Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133756855G>CCA354604680TFc.716G>C (p.Arg239Thr)
c.335G>C (p.Arg112Thr)
c.158-77G>C (n.158-77G>C)
c.584G>C (p.Arg195Thr)
3g.133756855G=CA1403107153TFc.716G= (p.Arg239=)
c.335G= (p.Arg112=)
c.158-77G= (n.158-77G=)
c.584G= (p.Arg195=)
3g.133756855G>TCA354604681TFc.716G>T (p.Arg239Met)
c.335G>T (p.Arg112Met)
c.158-77G>T (n.158-77G>T)
c.584G>T (p.Arg195Met)
3g.133756856G>ACA83674500TFc.717G>A (p.Arg239=)
c.336G>A (p.Arg112=)
c.158-76G>A (n.158-76G>A)
c.585G>A (p.Arg195=)
 dbSNP gnomAD v4
3g.133756856G>CCA354604686TFc.717G>C (p.Arg239Ser)
c.336G>C (p.Arg112Ser)
c.158-76G>C (n.158-76G>C)
c.585G>C (p.Arg195Ser)
3g.133756856G=CA1403107156TFc.717G= (p.Arg239=)
c.336G= (p.Arg112=)
c.158-76G= (n.158-76G=)
c.585G= (p.Arg195=)
3g.133756856G>TCA354604684TFc.717G>T (p.Arg239Ser)
c.336G>T (p.Arg112Ser)
c.158-76G>T (n.158-76G>T)
c.585G>T (p.Arg195Ser)
3g.133756857G>ACA2625079TFc.718G>A (p.Asp240Asn)
c.337G>A (p.Asp113Asn)
c.158-75G>A (n.158-75G>A)
c.586G>A (p.Asp196Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756857G>CCA354604691TFc.718G>C (p.Asp240His)
c.337G>C (p.Asp113His)
c.158-75G>C (n.158-75G>C)
c.586G>C (p.Asp196His)
 gnomAD v4
3g.133756857G=CA1403107162TFc.718G= (p.Asp240=)
c.337G= (p.Asp113=)
c.158-75G= (n.158-75G=)
c.586G= (p.Asp196=)
3g.133756857G>TCA354604693TFc.718G>T (p.Asp240Tyr)
c.337G>T (p.Asp113Tyr)
c.158-75G>T (n.158-75G>T)
c.586G>T (p.Asp196Tyr)
 dbSNP gnomAD v4
3g.133756858A>CCA354604696TFc.719A>C (p.Asp240Ala)
c.338A>C (p.Asp113Ala)
c.158-74A>C (n.158-74A>C)
c.587A>C (p.Asp196Ala)
3g.133756858A>GCA354604697TFc.719A>G (p.Asp240Gly)
c.338A>G (p.Asp113Gly)
c.158-74A>G (n.158-74A>G)
c.587A>G (p.Asp196Gly)
3g.133756858A>TCA354604699TFc.719A>T (p.Asp240Val)
c.338A>T (p.Asp113Val)
c.158-74A>T (n.158-74A>T)
c.587A>T (p.Asp196Val)
3g.133756859C>ACA354604700TFc.720C>A (p.Asp240Glu)
c.339C>A (p.Asp113Glu)
c.158-73C>A (n.158-73C>A)
c.588C>A (p.Asp196Glu)
3g.133756859C>GCA354604701TFc.720C>G (p.Asp240Glu)
c.339C>G (p.Asp113Glu)
c.158-73C>G (n.158-73C>G)
c.588C>G (p.Asp196Glu)
 COSMIC
3g.133756859C>TCA435806263TFc.720C>T (p.Asp240=)
c.339C>T (p.Asp113=)
c.158-73C>T (n.158-73C>T)
c.588C>T (p.Asp196=)
3g.133756860C>ACA354604704TFc.721C>A (p.Gln241Lys)
c.340C>A (p.Gln114Lys)
c.158-72C>A (n.158-72C>A)
c.589C>A (p.Gln197Lys)
3g.133756860C>GCA354604705TFc.721C>G (p.Gln241Glu)
c.340C>G (p.Gln114Glu)
c.158-72C>G (n.158-72C>G)
c.589C>G (p.Gln197Glu)
3g.133756860C>TCA354604707TFc.721C>T (p.Gln241Ter)
c.340C>T (p.Gln114Ter)
c.158-72C>T (n.158-72C>T)
c.589C>T (p.Gln197Ter)
3g.133756861A=CA1403107164TFc.722A= (p.Gln241=)
c.341A= (p.Gln114=)
c.158-71A= (n.158-71A=)
c.590A= (p.Gln197=)
3g.133756861A>CCA354604709TFc.722A>C (p.Gln241Pro)
c.341A>C (p.Gln114Pro)
c.158-71A>C (n.158-71A>C)
c.590A>C (p.Gln197Pro)
3g.133756861A>GCA2625080TFc.722A>G (p.Gln241Arg)
c.341A>G (p.Gln114Arg)
c.158-71A>G (n.158-71A>G)
c.590A>G (p.Gln197Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756861A>TCA354604712TFc.722A>T (p.Gln241Leu)
c.341A>T (p.Gln114Leu)
c.158-71A>T (n.158-71A>T)
c.590A>T (p.Gln197Leu)
3g.133756862G>ACA2625081TFc.723G>A (p.Gln241=)
c.342G>A (p.Gln114=)
c.158-70G>A (n.158-70G>A)
c.591G>A (p.Gln197=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756862G>CCA354604718TFc.723G>C (p.Gln241His)
c.342G>C (p.Gln114His)
c.158-70G>C (n.158-70G>C)
c.591G>C (p.Gln197His)
3g.133756862G=CA1403107169TFc.723G= (p.Gln241=)
c.342G= (p.Gln114=)
c.158-70G= (n.158-70G=)
c.591G= (p.Gln197=)
3g.133756862G>TCA354604715TFc.723G>T (p.Gln241His)
c.342G>T (p.Gln114His)
c.158-70G>T (n.158-70G>T)
c.591G>T (p.Gln197His)
3g.133756863T>ACA354604720TFc.724T>A (p.Tyr242Asn)
c.343T>A (p.Tyr115Asn)
c.158-69T>A (n.158-69T>A)
c.592T>A (p.Tyr198Asn)
3g.133756863T>CCA354604722TFc.724T>C (p.Tyr242His)
c.343T>C (p.Tyr115His)
c.158-69T>C (n.158-69T>C)
c.592T>C (p.Tyr198His)
3g.133756863T>GCA354604724TFc.724T>G (p.Tyr242Asp)
c.343T>G (p.Tyr115Asp)
c.158-69T>G (n.158-69T>G)
c.592T>G (p.Tyr198Asp)
3g.133756864A>CCA354604726TFc.725A>C (p.Tyr242Ser)
c.344A>C (p.Tyr115Ser)
c.158-68A>C (n.158-68A>C)
c.593A>C (p.Tyr198Ser)
3g.133756864A>GCA354604729TFc.725A>G (p.Tyr242Cys)
c.344A>G (p.Tyr115Cys)
c.158-68A>G (n.158-68A>G)
c.593A>G (p.Tyr198Cys)
3g.133756864A>TCA354604731TFc.725A>T (p.Tyr242Phe)
c.344A>T (p.Tyr115Phe)
c.158-68A>T (n.158-68A>T)
c.593A>T (p.Tyr198Phe)
3g.133756865T>ACA354604734TFc.726T>A (p.Tyr242Ter)
c.345T>A (p.Tyr115Ter)
c.158-67T>A (n.158-67T>A)
c.594T>A (p.Tyr198Ter)
3g.133756865T>CCA435806277TFc.726T>C (p.Tyr242=)
c.345T>C (p.Tyr115=)
c.158-67T>C (n.158-67T>C)
c.594T>C (p.Tyr198=)
3g.133756865T>GCA354604735TFc.726T>G (p.Tyr242Ter)
c.345T>G (p.Tyr115Ter)
c.158-67T>G (n.158-67T>G)
c.594T>G (p.Tyr198Ter)
 gnomAD v4
3g.133756866G>ACA354604737TFc.727G>A (p.Glu243Lys)
c.346G>A (p.Glu116Lys)
c.158-66G>A (n.158-66G>A)
c.595G>A (p.Glu199Lys)
3g.133756866G>CCA354604739TFc.727G>C (p.Glu243Gln)
c.346G>C (p.Glu116Gln)
c.158-66G>C (n.158-66G>C)
c.595G>C (p.Glu199Gln)
 COSMIC
3g.133756866G>TCA354604740TFc.727G>T (p.Glu243Ter)
c.346G>T (p.Glu116Ter)
c.158-66G>T (n.158-66G>T)
c.595G>T (p.Glu199Ter)
3g.133756867A>CCA354604746TFc.728A>C (p.Glu243Ala)
c.347A>C (p.Glu116Ala)
c.158-65A>C (n.158-65A>C)
c.596A>C (p.Glu199Ala)
3g.133756867A>GCA354604744TFc.728A>G (p.Glu243Gly)
c.347A>G (p.Glu116Gly)
c.158-65A>G (n.158-65A>G)
c.596A>G (p.Glu199Gly)
3g.133756867A>TCA354604742TFc.728A>T (p.Glu243Val)
c.347A>T (p.Glu116Val)
c.158-65A>T (n.158-65A>T)
c.596A>T (p.Glu199Val)
3g.133756868G>ACA435806287TFc.729G>A (p.Glu243=)
c.348G>A (p.Glu116=)
c.158-64G>A (n.158-64G>A)
c.597G>A (p.Glu199=)
3g.133756868G>CCA354604747TFc.729G>C (p.Glu243Asp)
c.348G>C (p.Glu116Asp)
c.158-64G>C (n.158-64G>C)
c.597G>C (p.Glu199Asp)
3g.133756868G>TCA354604750TFc.729G>T (p.Glu243Asp)
c.348G>T (p.Glu116Asp)
c.158-64G>T (n.158-64G>T)
c.597G>T (p.Glu199Asp)
3g.133756869C>ACA354604752TFc.730C>A (p.Leu244Met)
c.349C>A (p.Leu117Met)
c.158-63C>A (n.158-63C>A)
c.598C>A (p.Leu200Met)
3g.133756869C=CA1403107174TFc.730C= (p.Leu244=)
c.349C= (p.Leu117=)
c.158-63C= (n.158-63C=)
c.598C= (p.Leu200=)
3g.133756869C>GCA354604755TFc.730C>G (p.Leu244Val)
c.349C>G (p.Leu117Val)
c.158-63C>G (n.158-63C>G)
c.598C>G (p.Leu200Val)
3g.133756869C>TCA2625082TFc.730C>T (p.Leu244=)
c.349C>T (p.Leu117=)
c.158-63C>T (n.158-63C>T)
c.598C>T (p.Leu200=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756870T>ACA354604759TFc.731T>A (p.Leu244Gln)
c.350T>A (p.Leu117Gln)
c.158-62T>A (n.158-62T>A)
c.599T>A (p.Leu200Gln)
3g.133756870T>CCA354604760TFc.731T>C (p.Leu244Pro)
c.350T>C (p.Leu117Pro)
c.158-62T>C (n.158-62T>C)
c.599T>C (p.Leu200Pro)
3g.133756870T>GCA354604761TFc.731T>G (p.Leu244Arg)
c.350T>G (p.Leu117Arg)
c.158-62T>G (n.158-62T>G)
c.599T>G (p.Leu200Arg)
3g.133756871G>ACA2625083TFc.732G>A (p.Leu244=)
c.351G>A (p.Leu117=)
c.158-61G>A (n.158-61G>A)
c.600G>A (p.Leu200=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133756871G>CCA435806294TFc.732G>C (p.Leu244=)
c.351G>C (p.Leu117=)
c.158-61G>C (n.158-61G>C)
c.600G>C (p.Leu200=)
3g.133756871G=CA1403107178TFc.732G= (p.Leu244=)
c.351G= (p.Leu117=)
c.158-61G= (n.158-61G=)
c.600G= (p.Leu200=)
3g.133756871G>TCA435806295TFc.732G>T (p.Leu244=)
c.351G>T (p.Leu117=)
c.158-61G>T (n.158-61G>T)
c.600G>T (p.Leu200=)
 gnomAD v4
3g.133756872C>ACA354604762TFc.733C>A (p.Leu245Ile)
c.352C>A (p.Leu118Ile)
c.158-60C>A (n.158-60C>A)
c.601C>A (p.Leu201Ile)
3g.133756872C=CA1403107182TFc.733C= (p.Leu245=)
c.352C= (p.Leu118=)
c.158-60C= (n.158-60C=)
c.601C= (p.Leu201=)
3g.133756872C>GCA354604763TFc.733C>G (p.Leu245Val)
c.352C>G (p.Leu118Val)
c.158-60C>G (n.158-60C>G)
c.601C>G (p.Leu201Val)
3g.133756872C>TCA354604764TFc.733C>T (p.Leu245Phe)
c.352C>T (p.Leu118Phe)
c.158-60C>T (n.158-60C>T)
c.601C>T (p.Leu201Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.133756873T>ACA354604767TFc.734T>A (p.Leu245His)
c.353T>A (p.Leu118His)
c.158-59T>A (n.158-59T>A)
c.602T>A (p.Leu201His)
3g.133756873T>CCA354604766TFc.734T>C (p.Leu245Pro)
c.353T>C (p.Leu118Pro)
c.158-59T>C (n.158-59T>C)
c.602T>C (p.Leu201Pro)
 gnomAD v4
3g.133756873T>GCA354604765TFc.734T>G (p.Leu245Arg)
c.353T>G (p.Leu118Arg)
c.158-59T>G (n.158-59T>G)
c.602T>G (p.Leu201Arg)
3g.133756874T>ACA435806303TFc.735T>A (p.Leu245=)
c.354T>A (p.Leu118=)
c.158-58T>A (n.158-58T>A)
c.603T>A (p.Leu201=)
3g.133756874T>CCA435806301TFc.735T>C (p.Leu245=)
c.354T>C (p.Leu118=)
c.158-58T>C (n.158-58T>C)
c.603T>C (p.Leu201=)
3g.133756874T>GCA435806302TFc.735T>G (p.Leu245=)
c.354T>G (p.Leu118=)
c.158-58T>G (n.158-58T>G)
c.603T>G (p.Leu201=)
3g.133756875T>ACA354604768TFc.736T>A (p.Cys246Ser)
c.355T>A (p.Cys119Ser)
c.158-57T>A (n.158-57T>A)
c.604T>A (p.Cys202Ser)
3g.133756875T>CCA354604770TFc.736T>C (p.Cys246Arg)
c.355T>C (p.Cys119Arg)
c.158-57T>C (n.158-57T>C)
c.604T>C (p.Cys202Arg)
3g.133756875T>GCA354604769TFc.736T>G (p.Cys246Gly)
c.355T>G (p.Cys119Gly)
c.158-57T>G (n.158-57T>G)
c.604T>G (p.Cys202Gly)
3g.133756876G>ACA354604771TFc.737G>A (p.Cys246Tyr)
c.356G>A (p.Cys119Tyr)
c.158-56G>A (n.158-56G>A)
c.605G>A (p.Cys202Tyr)
 COSMIC
3g.133756876G>CCA354604773TFc.737G>C (p.Cys246Ser)
c.356G>C (p.Cys119Ser)
c.158-56G>C (n.158-56G>C)
c.605G>C (p.Cys202Ser)
3g.133756876G>TCA354604772TFc.737G>T (p.Cys246Phe)
c.356G>T (p.Cys119Phe)
c.158-56G>T (n.158-56G>T)
c.605G>T (p.Cys202Phe)
3g.133756877C>ACA354604774TFc.738C>A (p.Cys246Ter)
c.357C>A (p.Cys119Ter)
c.158-55C>A (n.158-55C>A)
c.606C>A (p.Cys202Ter)
3g.133756877C>GCA354604775TFc.738C>G (p.Cys246Trp)
c.357C>G (p.Cys119Trp)
c.158-55C>G (n.158-55C>G)
c.606C>G (p.Cys202Trp)
3g.133756877C>TCA435806315TFc.738C>T (p.Cys246=)
c.357C>T (p.Cys119=)
c.158-55C>T (n.158-55C>T)
c.606C>T (p.Cys202=)
3g.133756878C>ACA354604776TFc.739C>A (p.Leu247Met)
c.358C>A (p.Leu120Met)
c.158-54C>A (n.158-54C>A)
c.607C>A (p.Leu203Met)
 dbSNP
3g.133756878C=CA1403107191TFc.739C= (p.Leu247=)
c.358C= (p.Leu120=)
c.158-54C= (n.158-54C=)
c.607C= (p.Leu203=)
3g.133756878C>GCA354604777TFc.739C>G (p.Leu247Val)
c.358C>G (p.Leu120Val)
c.158-54C>G (n.158-54C>G)
c.607C>G (p.Leu203Val)
3g.133756878C>TCA2625084TFc.739C>T (p.Leu247=)
c.358C>T (p.Leu120=)
c.158-54C>T (n.158-54C>T)
c.607C>T (p.Leu203=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133756879T>ACA354604778TFc.740T>A (p.Leu247Gln)
c.359T>A (p.Leu120Gln)
c.158-53T>A (n.158-53T>A)
c.608T>A (p.Leu203Gln)
3g.133756879T>CCA354604779TFc.740T>C (p.Leu247Pro)
c.359T>C (p.Leu120Pro)
c.158-53T>C (n.158-53T>C)
c.608T>C (p.Leu203Pro)
3g.133756879T>GCA354604780TFc.740T>G (p.Leu247Arg)
c.359T>G (p.Leu120Arg)
c.158-53T>G (n.158-53T>G)
c.608T>G (p.Leu203Arg)
 gnomAD v4
3g.133756880G>ACA2625085TFc.741G>A (p.Leu247=)
c.360G>A (p.Leu120=)
c.158-52G>A (n.158-52G>A)
c.609G>A (p.Leu203=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756880G>CCA435806325TFc.741G>C (p.Leu247=)
c.360G>C (p.Leu120=)
c.158-52G>C (n.158-52G>C)
c.609G>C (p.Leu203=)
3g.133756880G=CA1403107193TFc.741G= (p.Leu247=)
c.360G= (p.Leu120=)
c.158-52G= (n.158-52G=)
c.609G= (p.Leu203=)
3g.133756880G>TCA435806327TFc.741G>T (p.Leu247=)
c.360G>T (p.Leu120=)
c.158-52G>T (n.158-52G>T)
c.609G>T (p.Leu203=)
3g.133756881G>ACA354604781TFc.742G>A (p.Asp248Asn)
c.361G>A (p.Asp121Asn)
c.158-51G>A (n.158-51G>A)
c.610G>A (p.Asp204Asn)
3g.133756881G>CCA354604782TFc.742G>C (p.Asp248His)
c.361G>C (p.Asp121His)
c.158-51G>C (n.158-51G>C)
c.610G>C (p.Asp204His)
3g.133756881G>TCA354604783TFc.742G>T (p.Asp248Tyr)
c.361G>T (p.Asp121Tyr)
c.158-51G>T (n.158-51G>T)
c.610G>T (p.Asp204Tyr)
3g.133756882A>CCA354604784TFc.743A>C (p.Asp248Ala)
c.362A>C (p.Asp121Ala)
c.158-50A>C (n.158-50A>C)
c.611A>C (p.Asp204Ala)
3g.133756882A>GCA354604785TFc.743A>G (p.Asp248Gly)
c.362A>G (p.Asp121Gly)
c.158-50A>G (n.158-50A>G)
c.611A>G (p.Asp204Gly)
3g.133756882A>TCA354604786TFc.743A>T (p.Asp248Val)
c.362A>T (p.Asp121Val)
c.158-50A>T (n.158-50A>T)
c.611A>T (p.Asp204Val)
3g.133756883C>ACA2625086TFc.744C>A (p.Asp248Glu)
c.363C>A (p.Asp121Glu)
c.158-49C>A (n.158-49C>A)
c.612C>A (p.Asp204Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756883C=CA1403107202TFc.744C= (p.Asp248=)
c.363C= (p.Asp121=)
c.158-49C= (n.158-49C=)
c.612C= (p.Asp204=)
3g.133756883C>GCA354604787TFc.744C>G (p.Asp248Glu)
c.363C>G (p.Asp121Glu)
c.158-49C>G (n.158-49C>G)
c.612C>G (p.Asp204Glu)
3g.133756883C>TCA2625087TFc.744C>T (p.Asp248=)
c.363C>T (p.Asp121=)
c.158-49C>T (n.158-49C>T)
c.612C>T (p.Asp204=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756884A>CCA354604788TFc.745A>C (p.Asn249His)
c.364A>C (p.Asn122His)
c.158-48A>C (n.158-48A>C)
c.613A>C (p.Asn205His)
3g.133756884A>GCA354604789TFc.745A>G (p.Asn249Asp)
c.364A>G (p.Asn122Asp)
c.158-48A>G (n.158-48A>G)
c.613A>G (p.Asn205Asp)
3g.133756884A>TCA354604790TFc.745A>T (p.Asn249Tyr)
c.364A>T (p.Asn122Tyr)
c.158-48A>T (n.158-48A>T)
c.613A>T (p.Asn205Tyr)
3g.133756885delCA2667764514TFc.746del (p.Asn249ThrfsTer6)
c.365del (p.Asn122ThrfsTer6)
c.158-47del (n.158-47del)
c.614del (p.Asn205ThrfsTer6)
 gnomAD v4
3g.133756885A=CA1403107205TFc.746A= (p.Asn249=)
c.365A= (p.Asn122=)
c.158-47A= (n.158-47A=)
c.614A= (p.Asn205=)
3g.133756885A>CCA354604791TFc.746A>C (p.Asn249Thr)
c.365A>C (p.Asn122Thr)
c.158-47A>C (n.158-47A>C)
c.614A>C (p.Asn205Thr)
3g.133756885A>GCA354604792TFc.746A>G (p.Asn249Ser)
c.365A>G (p.Asn122Ser)
c.158-47A>G (n.158-47A>G)
c.614A>G (p.Asn205Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.133756885A>TCA354604793TFc.746A>T (p.Asn249Ile)
c.365A>T (p.Asn122Ile)
c.158-47A>T (n.158-47A>T)
c.614A>T (p.Asn205Ile)
3g.133756886C>ACA354604794TFc.747C>A (p.Asn249Lys)
c.366C>A (p.Asn122Lys)
c.158-46C>A (n.158-46C>A)
c.615C>A (p.Asn205Lys)
3g.133756886C=CA1403107209TFc.747C= (p.Asn249=)
c.366C= (p.Asn122=)
c.158-46C= (n.158-46C=)
c.615C= (p.Asn205=)
3g.133756886C>GCA354604795TFc.747C>G (p.Asn249Lys)
c.366C>G (p.Asn122Lys)
c.158-46C>G (n.158-46C>G)
c.615C>G (p.Asn205Lys)
3g.133756886C>TCA435806349TFc.747C>T (p.Asn249=)
c.366C>T (p.Asn122=)
c.158-46C>T (n.158-46C>T)
c.615C>T (p.Asn205=)
 ClinVar dbSNP gnomAD v4
3g.133756887A=CA1403107217TFc.748A= (p.Thr250=)
c.367A= (p.Thr123=)
c.158-45A= (n.158-45A=)
c.616A= (p.Thr206=)
3g.133756887A>CCA354604796TFc.748A>C (p.Thr250Pro)
c.367A>C (p.Thr123Pro)
c.158-45A>C (n.158-45A>C)
c.616A>C (p.Thr206Pro)
 dbSNP
3g.133756887A>GCA83674522TFc.748A>G (p.Thr250Ala)
c.367A>G (p.Thr123Ala)
c.158-45A>G (n.158-45A>G)
c.616A>G (p.Thr206Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.133756887A>TCA354604797TFc.748A>T (p.Thr250Ser)
c.367A>T (p.Thr123Ser)
c.158-45A>T (n.158-45A>T)
c.616A>T (p.Thr206Ser)
3g.133756888C>ACA354604799TFc.749C>A (p.Thr250Asn)
c.368C>A (p.Thr123Asn)
c.158-44C>A (n.158-44C>A)
c.617C>A (p.Thr206Asn)
3g.133756888C=CA1403107225TFc.749C= (p.Thr250=)
c.368C= (p.Thr123=)
c.158-44C= (n.158-44C=)
c.617C= (p.Thr206=)
3g.133756888C>GCA2625088TFc.749C>G (p.Thr250Ser)
c.368C>G (p.Thr123Ser)
c.158-44C>G (n.158-44C>G)
c.617C>G (p.Thr206Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756888C>TCA354604798TFc.749C>T (p.Thr250Ile)
c.368C>T (p.Thr123Ile)
c.158-44C>T (n.158-44C>T)
c.617C>T (p.Thr206Ile)
3g.133756889C>ACA435806357TFc.750C>A (p.Thr250=)
c.369C>A (p.Thr123=)
c.158-43C>A (n.158-43C>A)
c.618C>A (p.Thr206=)
 ClinVar
3g.133756889C>GCA435806358TFc.750C>G (p.Thr250=)
c.369C>G (p.Thr123=)
c.158-43C>G (n.158-43C>G)
c.618C>G (p.Thr206=)
 COSMIC
3g.133756889C>TCA435806360TFc.750C>T (p.Thr250=)
c.369C>T (p.Thr123=)
c.158-43C>T (n.158-43C>T)
c.618C>T (p.Thr206=)
3g.133756890C>ACA435806362TFc.751C>A (p.Arg251=)
c.370C>A (p.Arg124=)
c.158-42C>A (n.158-42C>A)
c.619C>A (p.Arg207=)
3g.133756890C=CA1403107240TFc.751C= (p.Arg251=)
c.370C= (p.Arg124=)
c.158-42C= (n.158-42C=)
c.619C= (p.Arg207=)
3g.133756890C>GCA354604800TFc.751C>G (p.Arg251Gly)
c.370C>G (p.Arg124Gly)
c.158-42C>G (n.158-42C>G)
c.619C>G (p.Arg207Gly)
3g.133756890C>TCA2625089TFc.751C>T (p.Arg251Trp)
c.370C>T (p.Arg124Trp)
c.158-42C>T (n.158-42C>T)
c.619C>T (p.Arg207Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133756891G>ACA83674532TFc.752G>A (p.Arg251Gln)
c.371G>A (p.Arg124Gln)
c.158-41G>A (n.158-41G>A)
c.620G>A (p.Arg207Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.133756891G>CCA354604801TFc.752G>C (p.Arg251Pro)
c.371G>C (p.Arg124Pro)
c.158-41G>C (n.158-41G>C)
c.620G>C (p.Arg207Pro)
3g.133756891G=CA1403107251TFc.752G= (p.Arg251=)
c.371G= (p.Arg124=)
c.158-41G= (n.158-41G=)
c.620G= (p.Arg207=)
3g.133756891G>TCA354604802TFc.752G>T (p.Arg251Leu)
c.371G>T (p.Arg124Leu)
c.158-41G>T (n.158-41G>T)
c.620G>T (p.Arg207Leu)
3g.133756892G>ACA435806369TFc.753G>A (p.Arg251=)
c.372G>A (p.Arg124=)
c.158-40G>A (n.158-40G>A)
c.621G>A (p.Arg207=)
3g.133756892G>CCA435806371TFc.753G>C (p.Arg251=)
c.372G>C (p.Arg124=)
c.158-40G>C (n.158-40G>C)
c.621G>C (p.Arg207=)
3g.133756892G>TCA435806373TFc.753G>T (p.Arg251=)
c.372G>T (p.Arg124=)
c.158-40G>T (n.158-40G>T)
c.621G>T (p.Arg207=)
3g.133756893A>CCA354604803TFc.754A>C (p.Lys252Gln)
c.373A>C (p.Lys125Gln)
c.158-39A>C (n.158-39A>C)
c.622A>C (p.Lys208Gln)
3g.133756893A>GCA354604804TFc.754A>G (p.Lys252Glu)
c.373A>G (p.Lys125Glu)
c.158-39A>G (n.158-39A>G)
c.622A>G (p.Lys208Glu)
3g.133756893A>TCA354604805TFc.754A>T (p.Lys252Ter)
c.373A>T (p.Lys125Ter)
c.158-39A>T (n.158-39A>T)
c.622A>T (p.Lys208Ter)
3g.133756894A=CA1403107258TFc.755A= (p.Lys252=)
c.374A= (p.Lys125=)
c.158-38A= (n.158-38A=)
c.623A= (p.Lys208=)
3g.133756894A>CCA354604806TFc.755A>C (p.Lys252Thr)
c.374A>C (p.Lys125Thr)
c.158-38A>C (n.158-38A>C)
c.623A>C (p.Lys208Thr)
3g.133756894A>GCA354604807TFc.755A>G (p.Lys252Arg)
c.374A>G (p.Lys125Arg)
c.158-38A>G (n.158-38A>G)
c.623A>G (p.Lys208Arg)
 dbSNP
3g.133756894A>TCA354604808TFc.755A>T (p.Lys252Met)
c.374A>T (p.Lys125Met)
c.158-38A>T (n.158-38A>T)
c.623A>T (p.Lys208Met)
3g.133756895G>ACA2625090TFc.756G>A (p.Lys252=)
c.375G>A (p.Lys125=)
c.158-37G>A (n.158-37G>A)
c.624G>A (p.Lys208=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133756895G>CCA354604810TFc.756G>C (p.Lys252Asn)
c.375G>C (p.Lys125Asn)
c.158-37G>C (n.158-37G>C)
c.624G>C (p.Lys208Asn)
3g.133756895G=CA1403107260TFc.756G= (p.Lys252=)
c.375G= (p.Lys125=)
c.158-37G= (n.158-37G=)
c.624G= (p.Lys208=)
3g.133756895G>TCA354604809TFc.756G>T (p.Lys252Asn)
c.375G>T (p.Lys125Asn)
c.158-37G>T (n.158-37G>T)
c.624G>T (p.Lys208Asn)
3g.133756896C>ACA354604811TFc.757C>A (p.Pro253Thr)
c.376C>A (p.Pro126Thr)
c.158-36C>A (n.158-36C>A)
c.625C>A (p.Pro209Thr)
3g.133756896C=CA1403107261TFc.757C= (p.Pro253=)
c.376C= (p.Pro126=)
c.158-36C= (n.158-36C=)
c.625C= (p.Pro209=)
3g.133756896C>GCA354604812TFc.757C>G (p.Pro253Ala)
c.376C>G (p.Pro126Ala)
c.158-36C>G (n.158-36C>G)
c.625C>G (p.Pro209Ala)
3g.133756896C>TCA2625091TFc.757C>T (p.Pro253Ser)
c.376C>T (p.Pro126Ser)
c.158-36C>T (n.158-36C>T)
c.625C>T (p.Pro209Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133756897C>ACA354604813TFc.758C>A (p.Pro253Gln)
c.377C>A (p.Pro126Gln)
c.158-35C>A (n.158-35C>A)
c.626C>A (p.Pro209Gln)
3g.133756897C=CA1403107266TFc.758C= (p.Pro253=)
c.377C= (p.Pro126=)
c.158-35C= (n.158-35C=)
c.626C= (p.Pro209=)
3g.133756897C>GCA354604814TFc.758C>G (p.Pro253Arg)
c.377C>G (p.Pro126Arg)
c.158-35C>G (n.158-35C>G)
c.626C>G (p.Pro209Arg)
3g.133756897C>TCA2625092TFc.758C>T (p.Pro253Leu)
c.377C>T (p.Pro126Leu)
c.158-35C>T (n.158-35C>T)
c.626C>T (p.Pro209Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.133756898G>ACA2625093TFc.759G>A (p.Pro253=)
c.378G>A (p.Pro126=)
c.158-34G>A (n.158-34G>A)
c.627G>A (p.Pro209=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.133756898G>CCA435806394TFc.759G>C (p.Pro253=)
c.378G>C (p.Pro126=)
c.158-34G>C (n.158-34G>C)
c.627G>C (p.Pro209=)
3g.133756898G=CA1403107274TFc.759G= (p.Pro253=)
c.378G= (p.Pro126=)
c.158-34G= (n.158-34G=)
c.627G= (p.Pro209=)
3g.133756898G>TCA435806396TFc.759G>T (p.Pro253=)
c.378G>T (p.Pro126=)
c.158-34G>T (n.158-34G>T)
c.627G>T (p.Pro209=)
 gnomAD v4
3g.133756899G>ACA354604815TFc.760G>A (p.Val254Ile)
c.379G>A (p.Val127Ile)
c.158-33G>A (n.158-33G>A)
c.628G>A (p.Val210Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133756899G>CCA354604816TFc.760G>C (p.Val254Leu)
c.379G>C (p.Val127Leu)
c.158-33G>C (n.158-33G>C)
c.628G>C (p.Val210Leu)
3g.133756899G=CA1403107277TFc.760G= (p.Val254=)
c.379G= (p.Val127=)
c.158-33G= (n.158-33G=)
c.628G= (p.Val210=)
3g.133756899G>TCA354604817TFc.760G>T (p.Val254Leu)
c.379G>T (p.Val127Leu)
c.158-33G>T (n.158-33G>T)
c.628G>T (p.Val210Leu)
3g.133756900T>ACA354604818TFc.761T>A (p.Val254Glu)
c.380T>A (p.Val127Glu)
c.158-32T>A (n.158-32T>A)
c.629T>A (p.Val210Glu)
3g.133756900T>CCA354604819TFc.761T>C (p.Val254Ala)
c.380T>C (p.Val127Ala)
c.158-32T>C (n.158-32T>C)
c.629T>C (p.Val210Ala)
3g.133756900T>GCA354604820TFc.761T>G (p.Val254Gly)
c.380T>G (p.Val127Gly)
c.158-32T>G (n.158-32T>G)
c.629T>G (p.Val210Gly)
3g.133756901A>CCA435806405TFc.762A>C (p.Val254=)
c.381A>C (p.Val127=)
c.158-31A>C (n.158-31A>C)
c.630A>C (p.Val210=)
3g.133756901A>GCA435806407TFc.762A>G (p.Val254=)
c.381A>G (p.Val127=)
c.158-31A>G (n.158-31A>G)
c.630A>G (p.Val210=)
3g.133756901A>TCA435806409TFc.762A>T (p.Val254=)
c.381A>T (p.Val127=)
c.158-31A>T (n.158-31A>T)
c.630A>T (p.Val210=)
3g.133756902G>ACA354604823TFc.763G>A (p.Asp255Asn)
c.382G>A (p.Asp128Asn)
c.158-30G>A (n.158-30G>A)
c.631G>A (p.Asp211Asn)
3g.133756902G>CCA354604822TFc.763G>C (p.Asp255His)
c.382G>C (p.Asp128His)
c.158-30G>C (n.158-30G>C)
c.631G>C (p.Asp211His)
3g.133756902G>TCA354604821TFc.763G>T (p.Asp255Tyr)
c.382G>T (p.Asp128Tyr)
c.158-30G>T (n.158-30G>T)
c.631G>T (p.Asp211Tyr)
3g.133756903A>CCA354604824TFc.764A>C (p.Asp255Ala)
c.383A>C (p.Asp128Ala)
c.158-29A>C (n.158-29A>C)
c.632A>C (p.Asp211Ala)
3g.133756903A>GCA354604825TFc.764A>G (p.Asp255Gly)
c.383A>G (p.Asp128Gly)
c.158-29A>G (n.158-29A>G)
c.632A>G (p.Asp211Gly)
3g.133756903A>TCA354604826TFc.764A>T (p.Asp255Val)
c.383A>T (p.Asp128Val)
c.158-29A>T (n.158-29A>T)
c.632A>T (p.Asp211Val)
3g.133756904T>ACA354604827TFc.765T>A (p.Asp255Glu)
c.384T>A (p.Asp128Glu)
c.158-28T>A (n.158-28T>A)
c.633T>A (p.Asp211Glu)
3g.133756904T>CCA435806418TFc.765T>C (p.Asp255=)
c.384T>C (p.Asp128=)
c.158-28T>C (n.158-28T>C)
c.633T>C (p.Asp211=)
3g.133756904T>GCA83674545TFc.765T>G (p.Asp255Glu)
c.384T>G (p.Asp128Glu)
c.158-28T>G (n.158-28T>G)
c.633T>G (p.Asp211Glu)
 dbSNP
3g.133756904T=CA1403107280TFc.765T= (p.Asp255=)
c.384T= (p.Asp128=)
c.158-28T= (n.158-28T=)
c.633T= (p.Asp211=)
3g.133756905G>ACA354604828TFc.766G>A (p.Glu256Lys)
c.385G>A (p.Glu129Lys)
c.158-27G>A (n.158-27G>A)
c.634G>A (p.Glu212Lys)
3g.133756905G>CCA354604829TFc.766G>C (p.Glu256Gln)
c.385G>C (p.Glu129Gln)
c.158-27G>C (n.158-27G>C)
c.634G>C (p.Glu212Gln)
3g.133756905G>TCA354604830TFc.766G>T (p.Glu256Ter)
c.385G>T (p.Glu129Ter)
c.158-27G>T (n.158-27G>T)
c.634G>T (p.Glu212Ter)
 gnomAD v4
3g.133756906A>CCA354604831TFc.767A>C (p.Glu256Ala)
c.386A>C (p.Glu129Ala)
c.158-26A>C (n.158-26A>C)
c.635A>C (p.Glu212Ala)
3g.133756906A>GCA354604832TFc.767A>G (p.Glu256Gly)
c.386A>G (p.Glu129Gly)
c.158-26A>G (n.158-26A>G)
c.635A>G (p.Glu212Gly)
3g.133756906A>TCA354604833TFc.767A>T (p.Glu256Val)
c.386A>T (p.Glu129Val)
c.158-26A>T (n.158-26A>T)
c.635A>T (p.Glu212Val)
3g.133756907A>CCA354604834TFc.768A>C (p.Glu256Asp)
c.387A>C (p.Glu129Asp)
c.158-25A>C (n.158-25A>C)
c.636A>C (p.Glu212Asp)
3g.133756907A>GCA435806429TFc.768A>G (p.Glu256=)
c.387A>G (p.Glu129=)
c.158-25A>G (n.158-25A>G)
c.636A>G (p.Glu212=)
 gnomAD v4
3g.133756907A>TCA354604835TFc.768A>T (p.Glu256Asp)
c.387A>T (p.Glu129Asp)
c.158-25A>T (n.158-25A>T)
c.636A>T (p.Glu212Asp)
3g.133756908T>ACA354604838TFc.769T>A (p.Tyr257Asn)
c.388T>A (p.Tyr130Asn)
c.158-24T>A (n.158-24T>A)
c.637T>A (p.Tyr213Asn)
3g.133756908T>CCA354604837TFc.769T>C (p.Tyr257His)
c.388T>C (p.Tyr130His)
c.158-24T>C (n.158-24T>C)
c.637T>C (p.Tyr213His)
 gnomAD v4
3g.133756908T>GCA354604836TFc.769T>G (p.Tyr257Asp)
c.388T>G (p.Tyr130Asp)
c.158-24T>G (n.158-24T>G)
c.637T>G (p.Tyr213Asp)
3g.133756909A=CA1403107288TFc.770A= (p.Tyr257=)
c.389A= (p.Tyr130=)
c.158-23A= (n.158-23A=)
c.638A= (p.Tyr213=)
3g.133756909A>CCA354604839TFc.770A>C (p.Tyr257Ser)
c.389A>C (p.Tyr130Ser)
c.158-23A>C (n.158-23A>C)
c.638A>C (p.Tyr213Ser)
3g.133756909A>GCA354604840TFc.770A>G (p.Tyr257Cys)
c.389A>G (p.Tyr130Cys)
c.158-23A>G (n.158-23A>G)
c.638A>G (p.Tyr213Cys)
 dbSNP
3g.133756909A>TCA354604841TFc.770A>T (p.Tyr257Phe)
c.389A>T (p.Tyr130Phe)
c.158-23A>T (n.158-23A>T)
c.638A>T (p.Tyr213Phe)
3g.133756910C>ACA354604842TFc.771C>A (p.Tyr257Ter)
c.390C>A (p.Tyr130Ter)
c.158-22C>A (n.158-22C>A)
c.639C>A (p.Tyr213Ter)
3g.133756910C>GCA354604843TFc.771C>G (p.Tyr257Ter)
c.390C>G (p.Tyr130Ter)
c.158-22C>G (n.158-22C>G)
c.639C>G (p.Tyr213Ter)
3g.133756910C>TCA435806440TFc.771C>T (p.Tyr257=)
c.390C>T (p.Tyr130=)
c.158-22C>T (n.158-22C>T)
c.639C>T (p.Tyr213=)
 gnomAD v4
3g.133756911A>CCA354604844TFc.772A>C (p.Lys258Gln)
c.391A>C (p.Lys131Gln)
c.158-21A>C (n.158-21A>C)
c.640A>C (p.Lys214Gln)
3g.133756911A>GCA354604845TFc.772A>G (p.Lys258Glu)
c.391A>G (p.Lys131Glu)
c.158-21A>G (n.158-21A>G)
c.640A>G (p.Lys214Glu)
3g.133756911A>TCA354604846TFc.772A>T (p.Lys258Ter)
c.391A>T (p.Lys131Ter)
c.158-21A>T (n.158-21A>T)
c.640A>T (p.Lys214Ter)
3g.133756912A>CCA354604847TFc.773A>C (p.Lys258Thr)
c.392A>C (p.Lys131Thr)
c.158-20A>C (n.158-20A>C)
c.641A>C (p.Lys214Thr)
3g.133756912A>GCA354604848TFc.773A>G (p.Lys258Arg)
c.392A>G (p.Lys131Arg)
c.158-20A>G (n.158-20A>G)
c.641A>G (p.Lys214Arg)
3g.133756912A>TCA354604849TFc.773A>T (p.Lys258Met)
c.392A>T (p.Lys131Met)
c.158-20A>T (n.158-20A>T)
c.641A>T (p.Lys214Met)
3g.133756913G>ACA435806449TFc.774G>A (p.Lys258=)
c.393G>A (p.Lys131=)
c.158-19G>A (n.158-19G>A)
c.642G>A (p.Lys214=)
 dbSNP COSMIC
3g.133756913G>CCA354604850TFc.774G>C (p.Lys258Asn)
c.393G>C (p.Lys131Asn)
c.158-19G>C (n.158-19G>C)
c.642G>C (p.Lys214Asn)
3g.133756913G=CA1403107292TFc.774G= (p.Lys258=)
c.393G= (p.Lys131=)
c.158-19G= (n.158-19G=)
c.642G= (p.Lys214=)
3g.133756913G>TCA354604851TFc.774G>T (p.Lys258Asn)
c.393G>T (p.Lys131Asn)
c.158-19G>T (n.158-19G>T)
c.642G>T (p.Lys214Asn)
3g.133756914G>ACA354604853TFc.775G>A (p.Asp259Asn)
c.394G>A (p.Asp132Asn)
c.158-18G>A (n.158-18G>A)
c.643G>A (p.Asp215Asn)
 gnomAD v4
3g.133756914G>CCA354604854TFc.775G>C (p.Asp259His)
c.394G>C (p.Asp132His)
c.158-18G>C (n.158-18G>C)
c.643G>C (p.Asp215His)
3g.133756914G=CA1403107294TFc.775G= (p.Asp259=)
c.394G= (p.Asp132=)
c.158-18G= (n.158-18G=)
c.643G= (p.Asp215=)
3g.133756914G>TCA354604852TFc.775G>T (p.Asp259Tyr)
c.394G>T (p.Asp132Tyr)
c.158-18G>T (n.158-18G>T)
c.643G>T (p.Asp215Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.133756915A>CCA354604855TFc.776A>C (p.Asp259Ala)
c.395A>C (p.Asp132Ala)
c.158-17A>C (n.158-17A>C)
c.644A>C (p.Asp215Ala)
3g.133756915A>GCA354604856TFc.776A>G (p.Asp259Gly)
c.395A>G (p.Asp132Gly)
c.158-17A>G (n.158-17A>G)
c.644A>G (p.Asp215Gly)
 gnomAD v4
3g.133756915A>TCA354604857TFc.776A>T (p.Asp259Val)
c.395A>T (p.Asp132Val)
c.158-17A>T (n.158-17A>T)
c.644A>T (p.Asp215Val)
3g.133756916C>ACA354604858TFc.777C>A (p.Asp259Glu)
c.396C>A (p.Asp132Glu)
c.158-16C>A (n.158-16C>A)
c.645C>A (p.Asp215Glu)
3g.133756916C=CA1403107296TFc.777C= (p.Asp259=)
c.396C= (p.Asp132=)
c.158-16C= (n.158-16C=)
c.645C= (p.Asp215=)
3g.133756916C>GCA354604859TFc.777C>G (p.Asp259Glu)
c.396C>G (p.Asp132Glu)
c.158-16C>G (n.158-16C>G)
c.645C>G (p.Asp215Glu)
3g.133756916C>TCA83674548TFc.777C>T (p.Asp259=)
c.396C>T (p.Asp132=)
c.158-16C>T (n.158-16C>T)
c.645C>T (p.Asp215=)
 dbSNP gnomAD v3 gnomAD v4
3g.133756917T>ACA354604860TFc.778T>A (p.Cys260Ser)
c.397T>A (p.Cys133Ser)
c.158-15T>A (n.158-15T>A)
c.646T>A (p.Cys216Ser)
3g.133756917T>CCA354604861TFc.778T>C (p.Cys260Arg)
c.397T>C (p.Cys133Arg)
c.158-15T>C (n.158-15T>C)
c.646T>C (p.Cys216Arg)
3g.133756917T>GCA354604862TFc.778T>G (p.Cys260Gly)
c.397T>G (p.Cys133Gly)
c.158-15T>G (n.158-15T>G)
c.646T>G (p.Cys216Gly)
3g.133756918G>ACA83674550TFc.779G>A (p.Cys260Tyr)
c.398G>A (p.Cys133Tyr)
c.158-14G>A (n.158-14G>A)
c.647G>A (p.Cys216Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.133756918G>CCA354604863TFc.779G>C (p.Cys260Ser)
c.398G>C (p.Cys133Ser)
c.158-14G>C (n.158-14G>C)
c.647G>C (p.Cys216Ser)
3g.133756918G=CA1403107298TFc.779G= (p.Cys260=)
c.398G= (p.Cys133=)
c.158-14G= (n.158-14G=)
c.647G= (p.Cys216=)
3g.133756918G>TCA354604864TFc.779G>T (p.Cys260Phe)
c.398G>T (p.Cys133Phe)
c.158-14G>T (n.158-14G>T)
c.647G>T (p.Cys216Phe)
3g.133756919C>ACA354604866TFc.780C>A (p.Cys260Ter)
c.399C>A (p.Cys133Ter)
c.158-13C>A (n.158-13C>A)
c.648C>A (p.Cys216Ter)
3g.133756919C>GCA354604865TFc.780C>G (p.Cys260Trp)
c.399C>G (p.Cys133Trp)
c.158-13C>G (n.158-13C>G)
c.648C>G (p.Cys216Trp)
3g.133756919C>TCA435806473TFc.780C>T (p.Cys260=)
c.399C>T (p.Cys133=)
c.158-13C>T (n.158-13C>T)
c.648C>T (p.Cys216=)
3g.133756920C>ACA354604867TFc.781C>A (p.His261Asn)
c.400C>A (p.His134Asn)
c.158-12C>A (n.158-12C>A)
c.649C>A (p.His217Asn)
3g.133756920C>GCA354604868TFc.781C>G (p.His261Asp)
c.400C>G (p.His134Asp)
c.158-12C>G (n.158-12C>G)
c.649C>G (p.His217Asp)
3g.133756920C>TCA354604869TFc.781C>T (p.His261Tyr)
c.400C>T (p.His134Tyr)
c.158-12C>T (n.158-12C>T)
c.649C>T (p.His217Tyr)
3g.133756921A=CA1403107303TFc.782A= (p.His261=)
c.401A= (p.His134=)
c.158-11A= (n.158-11A=)
c.650A= (p.His217=)
3g.133756921A>CCA354604870TFc.782A>C (p.His261Pro)
c.401A>C (p.His134Pro)
c.158-11A>C (n.158-11A>C)
c.650A>C (p.His217Pro)
 dbSNP gnomAD v2
3g.133756921A>GCA354604871TFc.782A>G (p.His261Arg)
c.401A>G (p.His134Arg)
c.158-11A>G (n.158-11A>G)
c.650A>G (p.His217Arg)
 gnomAD v4
3g.133756921A>TCA354604872TFc.782A>T (p.His261Leu)
c.401A>T (p.His134Leu)
c.158-11A>T (n.158-11A>T)
c.650A>T (p.His217Leu)
3g.133756922C>ACA354604873TFc.783C>A (p.His261Gln)
c.402C>A (p.His134Gln)
c.158-10C>A (n.158-10C>A)
c.651C>A (p.His217Gln)
 gnomAD v4
3g.133756922C=CA1403107307TFc.783C= (p.His261=)
c.402C= (p.His134=)
c.158-10C= (n.158-10C=)
c.651C= (p.His217=)
3g.133756922C>GCA354604874TFc.783C>G (p.His261Gln)
c.402C>G (p.His134Gln)
c.158-10C>G (n.158-10C>G)
c.651C>G (p.His217Gln)
3g.133756922C>TCA435806484TFc.783C>T (p.His261=)
c.402C>T (p.His134=)
c.158-10C>T (n.158-10C>T)
c.651C>T (p.His217=)
 dbSNP gnomAD v2 gnomAD v4
3g.133756923T>ACA354604875TFc.784T>A (p.Leu262Met)
c.403T>A
c.158-9T>A (n.158-9T>A)
c.652T>A (p.Leu218Met)
c.403T>A (p.Leu135Met)
3g.133756923T>CCA83674553TFc.784T>C (p.Leu262=)
c.403T>C
c.158-9T>C (n.158-9T>C)
c.652T>C (p.Leu218=)
c.403T>C (p.Leu135=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133756923T>GCA354604876TFc.784T>G (p.Leu262Val)
c.403T>G
c.158-9T>G (n.158-9T>G)
c.652T>G (p.Leu218Val)
c.403T>G (p.Leu135Val)
3g.133756923T=CA1403107313TFc.784T= (p.Leu262=)
c.403T=
c.158-9T= (n.158-9T=)
c.652T= (p.Leu218=)
c.403T= (p.Leu135=)
3g.133756924T>ACA354604877TFc.785T>A (p.Leu262Ter)
c.158-8T>A (n.158-8T>A)
c.653T>A (p.Leu218Ter)
c.404T>A (p.Leu135Ter)
3g.133756924T>CCA354604878TFc.785T>C (p.Leu262Ser)
c.158-8T>C (n.158-8T>C)
c.653T>C (p.Leu218Ser)
c.404T>C (p.Leu135Ser)
3g.133756924T>GCA2625094TFc.785T>G (p.Leu262Trp)
c.158-8T>G (n.158-8T>G)
c.653T>G (p.Leu218Trp)
c.404T>G (p.Leu135Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133756924T=CA1403107316TFc.785T= (p.Leu262=)
c.158-8T= (n.158-8T=)
c.653T= (p.Leu218=)
c.404T= (p.Leu135=)

Number of alleles fetched