Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.116022481A=CA2065398594MED13Lc.600T= (p.Ala200=)
c.570T= (p.Ala190=)
c.28T=
c.510T= (p.Ala170=)
n.364T=
12g.116022481A>CCA481933591MED13Lc.600T>G (p.Ala200=)
c.570T>G (p.Ala190=)
c.28T>G
c.510T>G (p.Ala170=)
n.364T>G
12g.116022481A>GCA6811634MED13Lc.600T>C (p.Ala200=)
c.570T>C (p.Ala190=)
c.28T>C
c.510T>C (p.Ala170=)
n.364T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022481A>TCA481933592MED13Lc.600T>A (p.Ala200=)
c.570T>A (p.Ala190=)
c.28T>A
c.510T>A (p.Ala170=)
n.364T>A
12g.116022482G>ACA386872162MED13Lc.599C>T (p.Ala200Val)
c.569C>T (p.Ala190Val)
c.27C>T
c.509C>T (p.Ala170Val)
n.363C>T
12g.116022482G>CCA386872163MED13Lc.599C>G (p.Ala200Gly)
c.569C>G (p.Ala190Gly)
c.27C>G
c.509C>G (p.Ala170Gly)
n.363C>G
12g.116022482G>TCA386872164MED13Lc.599C>A (p.Ala200Asp)
c.569C>A (p.Ala190Asp)
c.27C>A
c.509C>A (p.Ala170Asp)
n.363C>A
12g.116022483C>ACA386872167MED13Lc.598G>T (p.Ala200Ser)
c.568G>T (p.Ala190Ser)
c.26G>T
c.508G>T (p.Ala170Ser)
n.362G>T
12g.116022483C=CA2065398599MED13Lc.598G= (p.Ala200=)
c.568G= (p.Ala190=)
c.26G=
c.508G= (p.Ala170=)
n.362G=
12g.116022483C>GCA386872165MED13Lc.598G>C (p.Ala200Pro)
c.568G>C (p.Ala190Pro)
c.26G>C
c.508G>C (p.Ala170Pro)
n.362G>C
12g.116022483C>TCA386872166MED13Lc.598G>A (p.Ala200Thr)
c.568G>A (p.Ala190Thr)
c.26G>A
c.508G>A (p.Ala170Thr)
n.362G>A
 dbSNP
12g.116022484C>ACA386872168MED13Lc.597G>T (p.Met199Ile)
c.567G>T (p.Met189Ile)
c.25G>T
c.507G>T (p.Met169Ile)
n.361G>T
12g.116022484C>GCA386872169MED13Lc.597G>C (p.Met199Ile)
c.567G>C (p.Met189Ile)
c.25G>C
c.507G>C (p.Met169Ile)
n.361G>C
 gnomAD v4
12g.116022484C>TCA386872170MED13Lc.597G>A (p.Met199Ile)
c.567G>A (p.Met189Ile)
c.25G>A
c.507G>A (p.Met169Ile)
n.361G>A
12g.116022485A=CA2065398602MED13Lc.596T= (p.Met199=)
c.566T= (p.Met189=)
c.24T=
c.506T= (p.Met169=)
n.360T=
12g.116022485A>CCA386872171MED13Lc.596T>G (p.Met199Arg)
c.566T>G (p.Met189Arg)
c.24T>G
c.506T>G (p.Met169Arg)
n.360T>G
12g.116022485A>GCA386872172MED13Lc.596T>C (p.Met199Thr)
c.566T>C (p.Met189Thr)
c.24T>C
c.506T>C (p.Met169Thr)
n.360T>C
 dbSNP gnomAD v3 gnomAD v4
12g.116022485A>TCA386872173MED13Lc.596T>A (p.Met199Lys)
c.566T>A (p.Met189Lys)
c.24T>A
c.506T>A (p.Met169Lys)
n.360T>A
12g.116022486T>ACA386872174MED13Lc.595A>T (p.Met199Leu)
c.565A>T (p.Met189Leu)
c.23A>T
c.505A>T (p.Met169Leu)
n.359A>T
 dbSNP gnomAD v3 gnomAD v4
12g.116022486T>CCA386872175MED13Lc.595A>G (p.Met199Val)
c.565A>G (p.Met189Val)
c.23A>G
c.505A>G (p.Met169Val)
n.359A>G
 dbSNP gnomAD v2 gnomAD v4
12g.116022486T>GCA386872176MED13Lc.595A>C (p.Met199Leu)
c.565A>C (p.Met189Leu)
c.23A>C
c.505A>C (p.Met169Leu)
n.359A>C
12g.116022486T=CA2065398610MED13Lc.595A= (p.Met199=)
c.565A= (p.Met189=)
c.23A=
c.505A= (p.Met169=)
n.359A=
12g.116022487G>ACA6811635MED13Lc.594C>T (p.His198=)
c.564C>T (p.His188=)
c.22C>T
c.504C>T (p.His168=)
n.358C>T
 dbSNP ExAC gnomAD v2
12g.116022487G>CCA386872177MED13Lc.594C>G (p.His198Gln)
c.564C>G (p.His188Gln)
c.22C>G
c.504C>G (p.His168Gln)
n.358C>G
12g.116022487G=CA2065398616MED13Lc.594C= (p.His198=)
c.564C= (p.His188=)
c.22C=
c.504C= (p.His168=)
n.358C=
12g.116022487G>TCA386872178MED13Lc.594C>A (p.His198Gln)
c.564C>A (p.His188Gln)
c.22C>A
c.504C>A (p.His168Gln)
n.358C>A
 gnomAD v4
12g.116022488T>ACA6811637MED13Lc.593A>T (p.His198Leu)
c.563A>T (p.His188Leu)
c.21A>T
c.503A>T (p.His168Leu)
n.357A>T
 dbSNP ExAC gnomAD v2
12g.116022488T>CCA6811636MED13Lc.593A>G (p.His198Arg)
c.563A>G (p.His188Arg)
c.21A>G
c.503A>G (p.His168Arg)
n.357A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022488T>GCA386872179MED13Lc.593A>C (p.His198Pro)
c.563A>C (p.His188Pro)
c.21A>C
c.503A>C (p.His168Pro)
n.357A>C
 ClinVar dbSNP
12g.116022488T=CA2065398624MED13Lc.593A= (p.His198=)
c.563A= (p.His188=)
c.21A=
c.503A= (p.His168=)
n.357A=
12g.116022489G>ACA386872182MED13Lc.592C>T (p.His198Tyr)
c.562C>T (p.His188Tyr)
c.20C>T
c.502C>T (p.His168Tyr)
n.356C>T
12g.116022489G>CCA386872180MED13Lc.592C>G (p.His198Asp)
c.562C>G (p.His188Asp)
c.20C>G
c.502C>G (p.His168Asp)
n.356C>G
12g.116022489G>TCA386872181MED13Lc.592C>A (p.His198Asn)
c.562C>A (p.His188Asn)
c.20C>A
c.502C>A (p.His168Asn)
n.356C>A
12g.116022490T>ACA481933594MED13Lc.591A>T (p.Ile197=)
c.561A>T (p.Ile187=)
c.19A>T
c.501A>T (p.Ile167=)
n.355A>T
12g.116022490T>CCA386872183MED13Lc.591A>G (p.Ile197Met)
c.561A>G (p.Ile187Met)
c.19A>G
c.501A>G (p.Ile167Met)
n.355A>G
 COSMIC
12g.116022490T>GCA481933593MED13Lc.591A>C (p.Ile197=)
c.561A>C (p.Ile187=)
c.19A>C
c.501A>C (p.Ile167=)
n.355A>C
12g.116022491A>CCA386872184MED13Lc.590T>G (p.Ile197Arg)
c.560T>G (p.Ile187Arg)
c.18T>G
c.500T>G (p.Ile167Arg)
n.354T>G
12g.116022491A>GCA386872185MED13Lc.590T>C (p.Ile197Thr)
c.560T>C (p.Ile187Thr)
c.18T>C
c.500T>C (p.Ile167Thr)
n.354T>C
12g.116022491A>TCA386872186MED13Lc.590T>A (p.Ile197Lys)
c.560T>A (p.Ile187Lys)
c.18T>A
c.500T>A (p.Ile167Lys)
n.354T>A
12g.116022492T>ACA386872189MED13Lc.589A>T (p.Ile197Leu)
c.559A>T (p.Ile187Leu)
c.17A>T
c.499A>T (p.Ile167Leu)
n.353A>T
12g.116022492T>CCA386872187MED13Lc.589A>G (p.Ile197Val)
c.559A>G (p.Ile187Val)
c.17A>G
c.499A>G (p.Ile167Val)
n.353A>G
12g.116022492T>GCA386872188MED13Lc.589A>C (p.Ile197Leu)
c.559A>C (p.Ile187Leu)
c.17A>C
c.499A>C (p.Ile167Leu)
n.353A>C
12g.116022493A>CCA386872190MED13Lc.588T>G (p.His196Gln)
c.558T>G (p.His186Gln)
c.16T>G
c.498T>G (p.His166Gln)
n.352T>G
12g.116022493A>GCA481933595MED13Lc.588T>C (p.His196=)
c.558T>C (p.His186=)
c.16T>C
c.498T>C (p.His166=)
n.352T>C
 gnomAD v4
12g.116022493A>TCA386872191MED13Lc.588T>A (p.His196Gln)
c.558T>A (p.His186Gln)
c.16T>A
c.498T>A (p.His166Gln)
n.352T>A
12g.116022494T>ACA386872192MED13Lc.587A>T (p.His196Leu)
c.557A>T (p.His186Leu)
c.15A>T
c.497A>T (p.His166Leu)
n.351A>T
12g.116022494T>CCA386872193MED13Lc.587A>G (p.His196Arg)
c.557A>G (p.His186Arg)
c.15A>G
c.497A>G (p.His166Arg)
n.351A>G
 gnomAD v4
12g.116022494T>GCA386872194MED13Lc.587A>C (p.His196Pro)
c.557A>C (p.His186Pro)
c.15A>C
c.497A>C (p.His166Pro)
n.351A>C
12g.116022494_116022498dupCA2695217458MED13Lc.583_587dup (p.His196GlnfsTer18)
c.553_557dup (p.His186GlnfsTer18)
c.11_15dup
c.493_497dup (p.His166GlnfsTer18)
n.347_351dup
12g.116022495G>ACA386872195MED13Lc.586C>T (p.His196Tyr)
c.556C>T (p.His186Tyr)
c.14C>T
c.496C>T (p.His166Tyr)
n.350C>T
 dbSNP gnomAD v4
12g.116022495G>CCA386872197MED13Lc.586C>G (p.His196Asp)
c.556C>G (p.His186Asp)
c.14C>G
c.496C>G (p.His166Asp)
n.350C>G
12g.116022495G=CA2065398628MED13Lc.586C= (p.His196=)
c.556C= (p.His186=)
c.14C=
c.496C= (p.His166=)
n.350C=
12g.116022495G>TCA386872196MED13Lc.586C>A (p.His196Asn)
c.556C>A (p.His186Asn)
c.14C>A
c.496C>A (p.His166Asn)
n.350C>A
12g.116022495_116022496delinsAACA2580085871MED13Lc.585_586delinsTT (p.Glu195_His196delinsAspTyr)
c.555_556delinsTT (p.Glu185_His186delinsAspTyr)
c.13_14delinsTT
c.495_496delinsTT (p.Glu165_His166delinsAspTyr)
n.349_350delinsTT
 ClinVar
12g.116022496C>ACA386872198MED13Lc.585G>T (p.Glu195Asp)
c.555G>T (p.Glu185Asp)
c.13G>T
c.495G>T (p.Glu165Asp)
n.349G>T
 dbSNP gnomAD v4
12g.116022496C=CA2065398633MED13Lc.585G= (p.Glu195=)
c.555G= (p.Glu185=)
c.13G=
c.495G= (p.Glu165=)
n.349G=
12g.116022496C>GCA386872199MED13Lc.585G>C (p.Glu195Asp)
c.555G>C (p.Glu185Asp)
c.13G>C
c.495G>C (p.Glu165Asp)
n.349G>C
12g.116022496C>TCA481933596MED13Lc.585G>A (p.Glu195=)
c.555G>A (p.Glu185=)
c.13G>A
c.495G>A (p.Glu165=)
n.349G>A
 dbSNP
12g.116022497T>ACA386872200MED13Lc.584A>T (p.Glu195Val)
c.554A>T (p.Glu185Val)
c.12A>T
c.494A>T (p.Glu165Val)
n.348A>T
12g.116022497T>CCA386872201MED13Lc.584A>G (p.Glu195Gly)
c.554A>G (p.Glu185Gly)
c.12A>G
c.494A>G (p.Glu165Gly)
n.348A>G
12g.116022497T>GCA386872202MED13Lc.584A>C (p.Glu195Ala)
c.554A>C (p.Glu185Ala)
c.12A>C
c.494A>C (p.Glu165Ala)
n.348A>C
12g.116022498C>ACA386872203MED13Lc.583G>T (p.Glu195Ter)
c.553G>T (p.Glu185Ter)
c.11G>T
c.493G>T (p.Glu165Ter)
n.347G>T
12g.116022498C=CA2065398640MED13Lc.583G= (p.Glu195=)
c.553G= (p.Glu185=)
c.11G=
c.493G= (p.Glu165=)
n.347G=
12g.116022498C>GCA386872204MED13Lc.583G>C (p.Glu195Gln)
c.553G>C (p.Glu185Gln)
c.11G>C
c.493G>C (p.Glu165Gln)
n.347G>C
 gnomAD v4
12g.116022498C>TCA6811638MED13Lc.583G>A (p.Glu195Lys)
c.553G>A (p.Glu185Lys)
c.11G>A
c.493G>A (p.Glu165Lys)
n.347G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12g.116022499C>ACA386872205MED13Lc.582G>T (p.Glu194Asp)
c.552G>T (p.Glu184Asp)
c.10G>T
c.492G>T (p.Glu164Asp)
n.346G>T
12g.116022499C>GCA386872206MED13Lc.582G>C (p.Glu194Asp)
c.552G>C (p.Glu184Asp)
c.10G>C
c.492G>C (p.Glu164Asp)
n.346G>C
12g.116022499C>TCA481933597MED13Lc.582G>A (p.Glu194=)
c.552G>A (p.Glu184=)
c.10G>A
c.492G>A (p.Glu164=)
n.346G>A
12g.116022500T>ACA386872209MED13Lc.581A>T (p.Glu194Val)
c.551A>T (p.Glu184Val)
c.9A>T
c.491A>T (p.Glu164Val)
n.345A>T
12g.116022500T>CCA386872208MED13Lc.581A>G (p.Glu194Gly)
c.551A>G (p.Glu184Gly)
c.9A>G
c.491A>G (p.Glu164Gly)
n.345A>G
12g.116022500T>GCA386872207MED13Lc.581A>C (p.Glu194Ala)
c.551A>C (p.Glu184Ala)
c.9A>C
c.491A>C (p.Glu164Ala)
n.345A>C
 gnomAD v4
12g.116022501C>ACA386872210MED13Lc.580G>T (p.Glu194Ter)
c.550G>T (p.Glu184Ter)
c.8G>T
c.490G>T (p.Glu164Ter)
n.344G>T
12g.116022501C=CA2065398648MED13Lc.580G= (p.Glu194=)
c.550G= (p.Glu184=)
c.8G=
c.490G= (p.Glu164=)
n.344G=
12g.116022501C>GCA386872211MED13Lc.580G>C (p.Glu194Gln)
c.550G>C (p.Glu184Gln)
c.8G>C
c.490G>C (p.Glu164Gln)
n.344G>C
12g.116022501C>TCA386872212MED13Lc.580G>A (p.Glu194Lys)
c.550G>A (p.Glu184Lys)
c.8G>A
c.490G>A (p.Glu164Lys)
n.344G>A
 dbSNP
12g.116022502A=CA2065398654MED13Lc.579T= (p.Asn193=)
c.549T= (p.Asn183=)
c.7T=
c.489T= (p.Asn163=)
n.343T=
12g.116022502A>CCA386872213MED13Lc.579T>G (p.Asn193Lys)
c.549T>G (p.Asn183Lys)
c.7T>G
c.489T>G (p.Asn163Lys)
n.343T>G
12g.116022502A>GCA6811639MED13Lc.579T>C (p.Asn193=)
c.549T>C (p.Asn183=)
c.7T>C
c.489T>C (p.Asn163=)
n.343T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022502A>TCA386872214MED13Lc.579T>A (p.Asn193Lys)
c.549T>A (p.Asn183Lys)
c.7T>A
c.489T>A (p.Asn163Lys)
n.343T>A
12g.116022503T>ACA386872216MED13Lc.578A>T (p.Asn193Ile)
c.548A>T (p.Asn183Ile)
c.6A>T
c.488A>T (p.Asn163Ile)
n.342A>T
12g.116022503T>CCA6811640MED13Lc.578A>G (p.Asn193Ser)
c.548A>G (p.Asn183Ser)
c.6A>G
c.488A>G (p.Asn163Ser)
n.342A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022503T>GCA386872215MED13Lc.578A>C (p.Asn193Thr)
c.548A>C (p.Asn183Thr)
c.6A>C
c.488A>C (p.Asn163Thr)
n.342A>C
12g.116022503T=CA2065398664MED13Lc.578A= (p.Asn193=)
c.548A= (p.Asn183=)
c.6A=
c.488A= (p.Asn163=)
n.342A=
12g.116022504T>ACA386872217MED13Lc.577A>T (p.Asn193Tyr)
c.547A>T (p.Asn183Tyr)
c.5A>T
c.487A>T (p.Asn163Tyr)
n.341A>T
12g.116022504T>CCA386872218MED13Lc.577A>G (p.Asn193Asp)
c.547A>G (p.Asn183Asp)
c.5A>G
c.487A>G (p.Asn163Asp)
n.341A>G
 gnomAD v4
12g.116022504T>GCA386872219MED13Lc.577A>C (p.Asn193His)
c.547A>C (p.Asn183His)
c.5A>C
c.487A>C (p.Asn163His)
n.341A>C
12g.116022505G>ACA6811641MED13Lc.576C>T (p.Ile192=)
c.546C>T (p.Ile182=)
c.4C>T
c.486C>T (p.Ile162=)
n.340C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022505G>CCA386872220MED13Lc.576C>G (p.Ile192Met)
c.546C>G (p.Ile182Met)
c.4C>G
c.486C>G (p.Ile162Met)
n.340C>G
12g.116022505G=CA2065398670MED13Lc.576C= (p.Ile192=)
c.546C= (p.Ile182=)
c.4C=
c.486C= (p.Ile162=)
n.340C=
12g.116022505G>TCA481933598MED13Lc.576C>A (p.Ile192=)
c.546C>A (p.Ile182=)
c.4C>A
c.486C>A (p.Ile162=)
n.340C>A
12g.116022506A>CCA386872221MED13Lc.575T>G (p.Ile192Ser)
c.545T>G (p.Ile182Ser)
c.3T>G
c.485T>G (p.Ile162Ser)
n.339T>G
12g.116022506A>GCA386872223MED13Lc.575T>C (p.Ile192Thr)
c.545T>C (p.Ile182Thr)
c.3T>C
c.485T>C (p.Ile162Thr)
n.339T>C
12g.116022506A>TCA386872222MED13Lc.575T>A (p.Ile192Asn)
c.545T>A (p.Ile182Asn)
c.3T>A
c.485T>A (p.Ile162Asn)
n.339T>A
12g.116022507T>ACA386872224MED13Lc.574A>T (p.Ile192Phe)
c.544A>T (p.Ile182Phe)
c.2A>T
c.484A>T (p.Ile162Phe)
n.338A>T
12g.116022507T>CCA386872225MED13Lc.574A>G (p.Ile192Val)
c.544A>G (p.Ile182Val)
c.2A>G
c.484A>G (p.Ile162Val)
n.338A>G
12g.116022507T>GCA386872226MED13Lc.574A>C (p.Ile192Leu)
c.544A>C (p.Ile182Leu)
c.2A>C
c.484A>C (p.Ile162Leu)
n.338A>C
12g.116022508C>ACA386872227MED13Lc.573G>T (p.Leu191Phe)
c.543G>T (p.Leu181Phe)
c.1G>T
c.483G>T (p.Leu161Phe)
n.337G>T
 dbSNP
12g.116022508C=CA2065398678MED13Lc.573G= (p.Leu191=)
c.543G= (p.Leu181=)
c.1G=
c.483G= (p.Leu161=)
n.337G=
12g.116022508C>GCA6811642MED13Lc.573G>C (p.Leu191Phe)
c.543G>C (p.Leu181Phe)
c.1G>C
c.483G>C (p.Leu161Phe)
n.337G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.116022508C>TCA481933599MED13Lc.573G>A (p.Leu191=)
c.543G>A (p.Leu181=)
c.1G>A
c.483G>A (p.Leu161=)
n.337G>A
12g.116022509A>CCA386872228MED13Lc.572T>G (p.Leu191Trp)
c.542T>G (p.Leu181Trp)
c.482T>G (p.Leu161Trp)
n.336T>G
12g.116022509A>GCA386872229MED13Lc.572T>C (p.Leu191Ser)
c.542T>C (p.Leu181Ser)
c.482T>C (p.Leu161Ser)
n.336T>C
12g.116022509A>TCA386872231MED13Lc.572T>A (p.Leu191Ter)
c.542T>A (p.Leu181Ter)
c.482T>A (p.Leu161Ter)
n.336T>A
12g.116022510A>CCA386872232MED13Lc.571T>G (p.Leu191Val)
c.541T>G (p.Leu181Val)
c.481T>G (p.Leu161Val)
n.335T>G
12g.116022510A>GCA481933600MED13Lc.571T>C (p.Leu191=)
c.541T>C (p.Leu181=)
c.481T>C (p.Leu161=)
n.335T>C
12g.116022510A>TCA386872233MED13Lc.571T>A (p.Leu191Met)
c.541T>A (p.Leu181Met)
c.481T>A (p.Leu161Met)
n.335T>A
12g.116022511A>CCA386872234MED13Lc.570T>G (p.Tyr190Ter)
c.540T>G (p.Tyr180Ter)
c.480T>G (p.Tyr160Ter)
n.334T>G
12g.116022511A>GCA481933601MED13Lc.570T>C (p.Tyr190=)
c.540T>C (p.Tyr180=)
c.480T>C (p.Tyr160=)
n.334T>C
12g.116022511A>TCA386872235MED13Lc.570T>A (p.Tyr190Ter)
c.540T>A (p.Tyr180Ter)
c.480T>A (p.Tyr160Ter)
n.334T>A
12g.116022512T>ACA386872237MED13Lc.569A>T (p.Tyr190Phe)
c.539A>T (p.Tyr180Phe)
c.479A>T (p.Tyr160Phe)
n.333A>T
12g.116022512T>CCA386872238MED13Lc.569A>G (p.Tyr190Cys)
c.539A>G (p.Tyr180Cys)
c.479A>G (p.Tyr160Cys)
n.333A>G
12g.116022512T>GCA386872236MED13Lc.569A>C (p.Tyr190Ser)
c.539A>C (p.Tyr180Ser)
c.479A>C (p.Tyr160Ser)
n.333A>C
12g.116022513A>CCA386872240MED13Lc.568T>G (p.Tyr190Asp)
c.538T>G (p.Tyr180Asp)
c.478T>G (p.Tyr160Asp)
n.332T>G
12g.116022513A>GCA386872239MED13Lc.568T>C (p.Tyr190His)
c.538T>C (p.Tyr180His)
c.478T>C (p.Tyr160His)
n.332T>C
12g.116022513A>TCA386872241MED13Lc.568T>A (p.Tyr190Asn)
c.538T>A (p.Tyr180Asn)
c.478T>A (p.Tyr160Asn)
n.332T>A
12g.116022514A>CCA386872242MED13Lc.567T>G (p.Ile189Met)
c.537T>G (p.Ile179Met)
c.477T>G (p.Ile159Met)
n.331T>G
12g.116022514A>GCA481933602MED13Lc.567T>C (p.Ile189=)
c.537T>C (p.Ile179=)
c.477T>C (p.Ile159=)
n.331T>C
12g.116022514A>TCA481933603MED13Lc.567T>A (p.Ile189=)
c.537T>A (p.Ile179=)
c.477T>A (p.Ile159=)
n.331T>A
12g.116022515A>CCA386872243MED13Lc.566T>G (p.Ile189Ser)
c.536T>G (p.Ile179Ser)
c.476T>G (p.Ile159Ser)
n.330T>G
12g.116022515A>GCA386872244MED13Lc.566T>C (p.Ile189Thr)
c.536T>C (p.Ile179Thr)
c.476T>C (p.Ile159Thr)
n.330T>C
12g.116022515A>TCA386872245MED13Lc.566T>A (p.Ile189Asn)
c.536T>A (p.Ile179Asn)
c.476T>A (p.Ile159Asn)
n.330T>A
12g.116022516T>ACA386872246MED13Lc.565A>T (p.Ile189Phe)
c.535A>T (p.Ile179Phe)
c.475A>T (p.Ile159Phe)
n.329A>T
12g.116022516T>CCA386872247MED13Lc.565A>G (p.Ile189Val)
c.535A>G (p.Ile179Val)
c.475A>G (p.Ile159Val)
n.329A>G
12g.116022516T>GCA386872248MED13Lc.565A>C (p.Ile189Leu)
c.535A>C (p.Ile179Leu)
c.475A>C (p.Ile159Leu)
n.329A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.116022516T=CA2065398684MED13Lc.565A= (p.Ile189=)
c.535A= (p.Ile179=)
c.475A= (p.Ile159=)
n.329A=
12g.116022517T>ACA481933604MED13Lc.564A>T (p.Pro188=)
c.534A>T (p.Pro178=)
c.474A>T (p.Pro158=)
n.328A>T
12g.116022517T>CCA6811643MED13Lc.564A>G (p.Pro188=)
c.534A>G (p.Pro178=)
c.474A>G (p.Pro158=)
n.328A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.116022517T>GCA481933605MED13Lc.564A>C (p.Pro188=)
c.534A>C (p.Pro178=)
c.474A>C (p.Pro158=)
n.328A>C
 gnomAD v4
12g.116022517T=CA2065398686MED13Lc.564A= (p.Pro188=)
c.534A= (p.Pro178=)
c.474A= (p.Pro158=)
n.328A=
12g.116022518G>ACA386872249MED13Lc.563C>T (p.Pro188Leu)
c.533C>T (p.Pro178Leu)
c.473C>T (p.Pro158Leu)
n.327C>T
12g.116022518G>CCA386872250MED13Lc.563C>G (p.Pro188Arg)
c.533C>G (p.Pro178Arg)
c.473C>G (p.Pro158Arg)
n.327C>G
12g.116022518G>TCA386872251MED13Lc.563C>A (p.Pro188Gln)
c.533C>A (p.Pro178Gln)
c.473C>A (p.Pro158Gln)
n.327C>A
12g.116022519G>ACA386872252MED13Lc.562C>T (p.Pro188Ser)
c.532C>T (p.Pro178Ser)
c.472C>T (p.Pro158Ser)
n.326C>T
12g.116022519G>CCA386872253MED13Lc.562C>G (p.Pro188Ala)
c.532C>G (p.Pro178Ala)
c.472C>G (p.Pro158Ala)
n.326C>G
12g.116022519G>TCA386872254MED13Lc.562C>A (p.Pro188Thr)
c.532C>A (p.Pro178Thr)
c.472C>A (p.Pro158Thr)
n.326C>A
12g.116022520C>ACA386872255MED13Lc.561G>T (p.Gln187His)
c.531G>T (p.Gln177His)
c.471G>T (p.Gln157His)
n.325G>T
12g.116022520C>GCA386872256MED13Lc.561G>C (p.Gln187His)
c.531G>C (p.Gln177His)
c.471G>C (p.Gln157His)
n.325G>C
12g.116022520C>TCA481933606MED13Lc.561G>A (p.Gln187=)
c.531G>A (p.Gln177=)
c.471G>A (p.Gln157=)
n.325G>A
 COSMIC
12g.116022521T>ACA386872257MED13Lc.560A>T (p.Gln187Leu)
c.530A>T (p.Gln177Leu)
c.470A>T (p.Gln157Leu)
n.324A>T
12g.116022521T>CCA386872258MED13Lc.560A>G (p.Gln187Arg)
c.530A>G (p.Gln177Arg)
c.470A>G (p.Gln157Arg)
n.324A>G
 dbSNP gnomAD v3 gnomAD v4
12g.116022521T>GCA386872259MED13Lc.560A>C (p.Gln187Pro)
c.530A>C (p.Gln177Pro)
c.470A>C (p.Gln157Pro)
n.324A>C
12g.116022521T=CA2065398694MED13Lc.560A= (p.Gln187=)
c.530A= (p.Gln177=)
c.470A= (p.Gln157=)
n.324A=
12g.116022522G>ACA386872260MED13Lc.559C>T (p.Gln187Ter)
c.529C>T (p.Gln177Ter)
c.469C>T (p.Gln157Ter)
n.323C>T
12g.116022522G>CCA386872261MED13Lc.559C>G (p.Gln187Glu)
c.529C>G (p.Gln177Glu)
c.469C>G (p.Gln157Glu)
n.323C>G
 gnomAD v4
12g.116022522G>TCA386872262MED13Lc.559C>A (p.Gln187Lys)
c.529C>A (p.Gln177Lys)
c.469C>A (p.Gln157Lys)
n.323C>A
12g.116022523G>ACA481933607MED13Lc.558C>T (p.His186=)
c.528C>T (p.His176=)
c.468C>T (p.His156=)
n.322C>T
12g.116022523G>CCA386872263MED13Lc.558C>G (p.His186Gln)
c.528C>G (p.His176Gln)
c.468C>G (p.His156Gln)
n.322C>G
12g.116022523G>TCA386872264MED13Lc.558C>A (p.His186Gln)
c.528C>A (p.His176Gln)
c.468C>A (p.His156Gln)
n.322C>A
12g.116022524T>ACA386872265MED13Lc.557A>T (p.His186Leu)
c.527A>T (p.His176Leu)
c.467A>T (p.His156Leu)
n.321A>T
12g.116022524T>CCA386872266MED13Lc.557A>G (p.His186Arg)
c.527A>G (p.His176Arg)
c.467A>G (p.His156Arg)
n.321A>G
12g.116022524T>GCA386872267MED13Lc.557A>C (p.His186Pro)
c.527A>C (p.His176Pro)
c.467A>C (p.His156Pro)
n.321A>C
 dbSNP
12g.116022524T=CA2065398701MED13Lc.557A= (p.His186=)
c.527A= (p.His176=)
c.467A= (p.His156=)
n.321A=
12g.116022525G>ACA386872270MED13Lc.556C>T (p.His186Tyr)
c.526C>T (p.His176Tyr)
c.466C>T (p.His156Tyr)
n.320C>T
12g.116022525G>CCA386872269MED13Lc.556C>G (p.His186Asp)
c.526C>G (p.His176Asp)
c.466C>G (p.His156Asp)
n.320C>G
12g.116022525G>TCA386872268MED13Lc.556C>A (p.His186Asn)
c.526C>A (p.His176Asn)
c.466C>A (p.His156Asn)
n.320C>A
12g.116022525_116022540delinsTCA2573053610MED13Lc.541_556delinsA (p.Val181_His186delinsAsn)
c.511_526delinsA (p.Val171_His176delinsAsn)
c.451_466delinsA (p.Val151_His156delinsAsn)
n.305_320delinsA
 ClinVar dbSNP
12g.116022526C>ACA386872271MED13Lc.555G>T (p.Gln185His)
c.525G>T (p.Gln175His)
c.465G>T (p.Gln155His)
n.319G>T
 dbSNP
12g.116022526C=CA2065398704MED13Lc.555G= (p.Gln185=)
c.525G= (p.Gln175=)
c.465G= (p.Gln155=)
n.319G=
12g.116022526C>GCA386872272MED13Lc.555G>C (p.Gln185His)
c.525G>C (p.Gln175His)
c.465G>C (p.Gln155His)
n.319G>C
12g.116022526C>TCA6811644MED13Lc.555G>A (p.Gln185=)
c.525G>A (p.Gln175=)
c.465G>A (p.Gln155=)
n.319G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022527T>ACA386872273MED13Lc.554A>T (p.Gln185Leu)
c.524A>T (p.Gln175Leu)
c.464A>T (p.Gln155Leu)
n.318A>T
 gnomAD v4
12g.116022527T>CCA386872274MED13Lc.554A>G (p.Gln185Arg)
c.524A>G (p.Gln175Arg)
c.464A>G (p.Gln155Arg)
n.318A>G
12g.116022527T>GCA386872275MED13Lc.554A>C (p.Gln185Pro)
c.524A>C (p.Gln175Pro)
c.464A>C (p.Gln155Pro)
n.318A>C
12g.116022528G>ACA386872276MED13Lc.553C>T (p.Gln185Ter)
c.523C>T (p.Gln175Ter)
c.463C>T (p.Gln155Ter)
n.317C>T
 ClinVar dbSNP
12g.116022528G>CCA386872277MED13Lc.553C>G (p.Gln185Glu)
c.523C>G (p.Gln175Glu)
c.463C>G (p.Gln155Glu)
n.317C>G
12g.116022528G>TCA386872278MED13Lc.553C>A (p.Gln185Lys)
c.523C>A (p.Gln175Lys)
c.463C>A (p.Gln155Lys)
n.317C>A
12g.116022529G>ACA481933608MED13Lc.552C>T (p.Ala184=)
c.522C>T (p.Ala174=)
c.462C>T (p.Ala154=)
n.316C>T
 gnomAD v4
12g.116022529G>CCA481933609MED13Lc.552C>G (p.Ala184=)
c.522C>G (p.Ala174=)
c.462C>G (p.Ala154=)
n.316C>G
12g.116022529G>TCA481933610MED13Lc.552C>A (p.Ala184=)
c.522C>A (p.Ala174=)
c.462C>A (p.Ala154=)
n.316C>A
12g.116022530G>ACA244129747MED13Lc.551C>T (p.Ala184Val)
c.521C>T (p.Ala174Val)
c.461C>T (p.Ala154Val)
n.315C>T
 dbSNP
12g.116022530G>CCA386872279MED13Lc.551C>G (p.Ala184Gly)
c.521C>G (p.Ala174Gly)
c.461C>G (p.Ala154Gly)
n.315C>G
12g.116022530G=CA2065398713MED13Lc.551C= (p.Ala184=)
c.521C= (p.Ala174=)
c.461C= (p.Ala154=)
n.315C=
12g.116022530G>TCA386872280MED13Lc.551C>A (p.Ala184Asp)
c.521C>A (p.Ala174Asp)
c.461C>A (p.Ala154Asp)
n.315C>A
 COSMIC
12g.116022531C>ACA386872283MED13Lc.550G>T (p.Ala184Ser)
c.520G>T (p.Ala174Ser)
c.460G>T (p.Ala154Ser)
n.314G>T
 dbSNP
12g.116022531C=CA2065398716MED13Lc.550G= (p.Ala184=)
c.520G= (p.Ala174=)
c.460G= (p.Ala154=)
n.314G=
12g.116022531C>GCA386872282MED13Lc.550G>C (p.Ala184Pro)
c.520G>C (p.Ala174Pro)
c.460G>C (p.Ala154Pro)
n.314G>C
12g.116022531C>TCA386872281MED13Lc.550G>A (p.Ala184Thr)
c.520G>A (p.Ala174Thr)
c.460G>A (p.Ala154Thr)
n.314G>A
12g.116022532A>CCA386872284MED13Lc.549T>G (p.Ile183Met)
c.519T>G (p.Ile173Met)
c.459T>G (p.Ile153Met)
n.313T>G
12g.116022532A>GCA481933612MED13Lc.549T>C (p.Ile183=)
c.519T>C (p.Ile173=)
c.459T>C (p.Ile153=)
n.313T>C
12g.116022532A>TCA481933611MED13Lc.549T>A (p.Ile183=)
c.519T>A (p.Ile173=)
c.459T>A (p.Ile153=)
n.313T>A
12g.116022533A>CCA386872285MED13Lc.548T>G (p.Ile183Ser)
c.518T>G (p.Ile173Ser)
c.458T>G (p.Ile153Ser)
n.312T>G
12g.116022533A>GCA386872286MED13Lc.548T>C (p.Ile183Thr)
c.518T>C (p.Ile173Thr)
c.458T>C (p.Ile153Thr)
n.312T>C
12g.116022533A>TCA386872287MED13Lc.548T>A (p.Ile183Asn)
c.518T>A (p.Ile173Asn)
c.458T>A (p.Ile153Asn)
n.312T>A
12g.116022534T>ACA386872288MED13Lc.547A>T (p.Ile183Phe)
c.517A>T (p.Ile173Phe)
c.457A>T (p.Ile153Phe)
n.311A>T
12g.116022534T>CCA386872289MED13Lc.547A>G (p.Ile183Val)
c.517A>G (p.Ile173Val)
c.457A>G (p.Ile153Val)
n.311A>G
 gnomAD v4
12g.116022534T>GCA386872290MED13Lc.547A>C (p.Ile183Leu)
c.517A>C (p.Ile173Leu)
c.457A>C (p.Ile153Leu)
n.311A>C
12g.116022535C>ACA386872291MED13Lc.546G>T (p.Glu182Asp)
c.516G>T (p.Glu172Asp)
c.456G>T (p.Glu152Asp)
n.310G>T
12g.116022535C=CA2065398720MED13Lc.546G= (p.Glu182=)
c.516G= (p.Glu172=)
c.456G= (p.Glu152=)
n.310G=
12g.116022535C>GCA386872292MED13Lc.546G>C (p.Glu182Asp)
c.516G>C (p.Glu172Asp)
c.456G>C (p.Glu152Asp)
n.310G>C
12g.116022535C>TCA6811645MED13Lc.546G>A (p.Glu182=)
c.516G>A (p.Glu172=)
c.456G>A (p.Glu152=)
n.310G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022536T>ACA386872293MED13Lc.545A>T (p.Glu182Val)
c.515A>T (p.Glu172Val)
c.455A>T (p.Glu152Val)
n.309A>T
12g.116022536T>CCA386872294MED13Lc.545A>G (p.Glu182Gly)
c.515A>G (p.Glu172Gly)
c.455A>G (p.Glu152Gly)
n.309A>G
12g.116022536T>GCA386872295MED13Lc.545A>C (p.Glu182Ala)
c.515A>C (p.Glu172Ala)
c.455A>C (p.Glu152Ala)
n.309A>C
12g.116022537C>ACA386872298MED13Lc.544G>T (p.Glu182Ter)
c.514G>T (p.Glu172Ter)
c.454G>T (p.Glu152Ter)
n.308G>T
12g.116022537C>GCA386872297MED13Lc.544G>C (p.Glu182Gln)
c.514G>C (p.Glu172Gln)
c.454G>C (p.Glu152Gln)
n.308G>C
12g.116022537C>TCA386872296MED13Lc.544G>A (p.Glu182Lys)
c.514G>A (p.Glu172Lys)
c.454G>A (p.Glu152Lys)
n.308G>A
12g.116022538C>ACA481933613MED13Lc.543G>T (p.Val181=)
c.513G>T (p.Val171=)
c.453G>T (p.Val151=)
n.307G>T
12g.116022538C>GCA481933614MED13Lc.543G>C (p.Val181=)
c.513G>C (p.Val171=)
c.453G>C (p.Val151=)
n.307G>C
12g.116022538C>TCA481933615MED13Lc.543G>A (p.Val181=)
c.513G>A (p.Val171=)
c.453G>A (p.Val151=)
n.307G>A
12g.116022539A>CCA386872300MED13Lc.542T>G (p.Val181Gly)
c.512T>G (p.Val171Gly)
c.452T>G (p.Val151Gly)
n.306T>G
12g.116022539A>GCA386872299MED13Lc.542T>C (p.Val181Ala)
c.512T>C (p.Val171Ala)
c.452T>C (p.Val151Ala)
n.306T>C
12g.116022539A>TCA386872301MED13Lc.542T>A (p.Val181Glu)
c.512T>A (p.Val171Glu)
c.452T>A (p.Val151Glu)
n.306T>A
12g.116022540C>ACA386872302MED13Lc.541G>T (p.Val181Leu)
c.511G>T (p.Val171Leu)
c.451G>T (p.Val151Leu)
n.305G>T
12g.116022540C>GCA386872303MED13Lc.541G>C (p.Val181Leu)
c.511G>C (p.Val171Leu)
c.451G>C (p.Val151Leu)
n.305G>C
12g.116022540C>TCA386872304MED13Lc.541G>A (p.Val181Met)
c.511G>A (p.Val171Met)
c.451G>A (p.Val151Met)
n.305G>A
12g.116022541A=CA2065398728MED13Lc.540T= (p.Ser180=)
c.510T= (p.Ser170=)
c.450T= (p.Ser150=)
n.304T=
12g.116022541A>CCA386872305MED13Lc.540T>G (p.Ser180Arg)
c.510T>G (p.Ser170Arg)
c.450T>G (p.Ser150Arg)
n.304T>G
 gnomAD v4
12g.116022541A>GCA481933616MED13Lc.540T>C (p.Ser180=)
c.510T>C (p.Ser170=)
c.450T>C (p.Ser150=)
n.304T>C
 dbSNP
12g.116022541A>TCA386872306MED13Lc.540T>A (p.Ser180Arg)
c.510T>A (p.Ser170Arg)
c.450T>A (p.Ser150Arg)
n.304T>A
12g.116022542C>ACA386872307MED13Lc.539G>T (p.Ser180Ile)
c.509G>T (p.Ser170Ile)
c.449G>T (p.Ser150Ile)
n.303G>T
12g.116022542C=CA2065398735MED13Lc.539G= (p.Ser180=)
c.509G= (p.Ser170=)
c.449G= (p.Ser150=)
n.303G=
12g.116022542C>GCA386872308MED13Lc.539G>C (p.Ser180Thr)
c.509G>C (p.Ser170Thr)
c.449G>C (p.Ser150Thr)
n.303G>C
 ClinVar
12g.116022542C>TCA386872310MED13Lc.539G>A (p.Ser180Asn)
c.509G>A (p.Ser170Asn)
c.449G>A (p.Ser150Asn)
n.303G>A
 dbSNP gnomAD v2 gnomAD v4
12g.116022543T>ACA386872312MED13Lc.538A>T (p.Ser180Cys)
c.508A>T (p.Ser170Cys)
c.448A>T (p.Ser150Cys)
n.302A>T
12g.116022543T>CCA6811646MED13Lc.538A>G (p.Ser180Gly)
c.508A>G (p.Ser170Gly)
c.448A>G (p.Ser150Gly)
n.302A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022543T>GCA386872315MED13Lc.538A>C (p.Ser180Arg)
c.508A>C (p.Ser170Arg)
c.448A>C (p.Ser150Arg)
n.302A>C
12g.116022543T=CA2065398743MED13Lc.538A= (p.Ser180=)
c.508A= (p.Ser170=)
c.448A= (p.Ser150=)
n.302A=
12g.116022544T>ACA481933617MED13Lc.537A>T (p.Thr179=)
c.507A>T (p.Thr169=)
c.447A>T (p.Thr149=)
n.301A>T
12g.116022544T>CCA481933618MED13Lc.537A>G (p.Thr179=)
c.507A>G (p.Thr169=)
c.447A>G (p.Thr149=)
n.301A>G
12g.116022544T>GCA481933619MED13Lc.537A>C (p.Thr179=)
c.507A>C (p.Thr169=)
c.447A>C (p.Thr149=)
n.301A>C
12g.116022545G>ACA386872322MED13Lc.536C>T (p.Thr179Ile)
c.506C>T (p.Thr169Ile)
c.446C>T (p.Thr149Ile)
n.300C>T
12g.116022545G>CCA386872320MED13Lc.536C>G (p.Thr179Arg)
c.506C>G (p.Thr169Arg)
c.446C>G (p.Thr149Arg)
n.300C>G
12g.116022545G>TCA386872319MED13Lc.536C>A (p.Thr179Lys)
c.506C>A (p.Thr169Lys)
c.446C>A (p.Thr149Lys)
n.300C>A
12g.116022546T>ACA386872324MED13Lc.535A>T (p.Thr179Ser)
c.505A>T (p.Thr169Ser)
c.445A>T (p.Thr149Ser)
n.299A>T
12g.116022546T>CCA386872332MED13Lc.535A>G (p.Thr179Ala)
c.505A>G (p.Thr169Ala)
c.445A>G (p.Thr149Ala)
n.299A>G
 gnomAD v4
12g.116022546T>GCA386872334MED13Lc.535A>C (p.Thr179Pro)
c.505A>C (p.Thr169Pro)
c.445A>C (p.Thr149Pro)
n.299A>C
12g.116022547G>ACA6811647MED13Lc.534C>T (p.Cys178=)
c.504C>T (p.Cys168=)
c.444C>T (p.Cys148=)
n.298C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.116022547G>CCA386872338MED13Lc.534C>G (p.Cys178Trp)
c.504C>G (p.Cys168Trp)
c.444C>G (p.Cys148Trp)
n.298C>G
12g.116022547G=CA2065398747MED13Lc.534C= (p.Cys178=)
c.504C= (p.Cys168=)
c.444C= (p.Cys148=)
n.298C=
12g.116022547G>TCA386872339MED13Lc.534C>A (p.Cys178Ter)
c.504C>A (p.Cys168Ter)
c.444C>A (p.Cys148Ter)
n.298C>A
12g.116022548C>ACA386872342MED13Lc.533G>T (p.Cys178Phe)
c.503G>T (p.Cys168Phe)
c.443G>T (p.Cys148Phe)
n.297G>T
12g.116022548C>GCA386872343MED13Lc.533G>C (p.Cys178Ser)
c.503G>C (p.Cys168Ser)
c.443G>C (p.Cys148Ser)
n.297G>C
12g.116022548C>TCA386872345MED13Lc.533G>A (p.Cys178Tyr)
c.503G>A (p.Cys168Tyr)
c.443G>A (p.Cys148Tyr)
n.297G>A
 gnomAD v4
12g.116022549A>CCA386872348MED13Lc.532T>G (p.Cys178Gly)
c.502T>G (p.Cys168Gly)
c.442T>G (p.Cys148Gly)
n.296T>G
12g.116022549A>GCA386872349MED13Lc.532T>C (p.Cys178Arg)
c.502T>C (p.Cys168Arg)
c.442T>C (p.Cys148Arg)
n.296T>C
12g.116022549A>TCA386872351MED13Lc.532T>A (p.Cys178Ser)
c.502T>A (p.Cys168Ser)
c.442T>A (p.Cys148Ser)
n.296T>A
12g.116022550T>ACA481933620MED13Lc.531A>T (p.Val177=)
c.501A>T (p.Val167=)
c.441A>T (p.Val147=)
n.295A>T
12g.116022550T>CCA481933621MED13Lc.531A>G (p.Val177=)
c.501A>G (p.Val167=)
c.441A>G (p.Val147=)
n.295A>G
12g.116022550T>GCA481933622MED13Lc.531A>C (p.Val177=)
c.501A>C (p.Val167=)
c.441A>C (p.Val147=)
n.295A>C
12g.116022551A>CCA386872355MED13Lc.530T>G (p.Val177Gly)
c.500T>G (p.Val167Gly)
c.440T>G (p.Val147Gly)
n.294T>G
12g.116022551A>GCA386872357MED13Lc.530T>C (p.Val177Ala)
c.500T>C (p.Val167Ala)
c.440T>C (p.Val147Ala)
n.294T>C
12g.116022551A>TCA386872354MED13Lc.530T>A (p.Val177Glu)
c.500T>A (p.Val167Glu)
c.440T>A (p.Val147Glu)
n.294T>A
12g.116022552C>ACA386872360MED13Lc.529G>T (p.Val177Leu)
c.499G>T (p.Val167Leu)
c.439G>T (p.Val147Leu)
n.293G>T
12g.116022552C=CA2065398759MED13Lc.529G= (p.Val177=)
c.499G= (p.Val167=)
c.439G= (p.Val147=)
n.293G=
12g.116022552C>GCA386872361MED13Lc.529G>C (p.Val177Leu)
c.499G>C (p.Val167Leu)
c.439G>C (p.Val147Leu)
n.293G>C
12g.116022552C>TCA386872363MED13Lc.529G>A (p.Val177Ile)
c.499G>A (p.Val167Ile)
c.439G>A (p.Val147Ile)
n.293G>A
 dbSNP gnomAD v2 gnomAD v4
12g.116022553A=CA2065398761MED13Lc.528T= (p.Asn176=)
c.498T= (p.Asn166=)
c.438T= (p.Asn146=)
n.292T=
12g.116022553A>CCA386872366MED13Lc.528T>G (p.Asn176Lys)
c.498T>G (p.Asn166Lys)
c.438T>G (p.Asn146Lys)
n.292T>G
12g.116022553A>GCA481933623MED13Lc.528T>C (p.Asn176=)
c.498T>C (p.Asn166=)
c.438T>C (p.Asn146=)
n.292T>C
 dbSNP gnomAD v2
12g.116022553A>TCA386872367MED13Lc.528T>A (p.Asn176Lys)
c.498T>A (p.Asn166Lys)
c.438T>A (p.Asn146Lys)
n.292T>A
12g.116022554T>ACA386872369MED13Lc.527A>T (p.Asn176Ile)
c.497A>T (p.Asn166Ile)
c.437A>T (p.Asn146Ile)
n.291A>T
12g.116022554T>CCA386872371MED13Lc.527A>G (p.Asn176Ser)
c.497A>G (p.Asn166Ser)
c.437A>G (p.Asn146Ser)
n.291A>G
 gnomAD v4
12g.116022554T>GCA386872373MED13Lc.527A>C (p.Asn176Thr)
c.497A>C (p.Asn166Thr)
c.437A>C (p.Asn146Thr)
n.291A>C
12g.116022555T>ACA386872375MED13Lc.526A>T (p.Asn176Tyr)
c.496A>T (p.Asn166Tyr)
c.436A>T (p.Asn146Tyr)
n.290A>T
12g.116022555T>CCA386872376MED13Lc.526A>G (p.Asn176Asp)
c.496A>G (p.Asn166Asp)
c.436A>G (p.Asn146Asp)
n.290A>G
12g.116022555T>GCA386872378MED13Lc.526A>C (p.Asn176His)
c.496A>C (p.Asn166His)
c.436A>C (p.Asn146His)
n.290A>C
12g.116022556delCA2575306987MED13Lc.525del (p.Ser175ArgfsTer17)
c.495del (p.Ser165ArgfsTer17)
c.435del (p.Ser145ArgfsTer17)
n.289del
12g.116022556A>CCA386872380MED13Lc.525T>G (p.Ser175Arg)
c.495T>G (p.Ser165Arg)
c.435T>G (p.Ser145Arg)
n.289T>G
12g.116022556A>GCA481933624MED13Lc.525T>C (p.Ser175=)
c.495T>C (p.Ser165=)
c.435T>C (p.Ser145=)
n.289T>C
12g.116022556A>TCA386872382MED13Lc.525T>A (p.Ser175Arg)
c.495T>A (p.Ser165Arg)
c.435T>A (p.Ser145Arg)
n.289T>A
12g.116022557C>ACA386872387MED13Lc.524G>T (p.Ser175Ile)
c.494G>T (p.Ser165Ile)
c.434G>T (p.Ser145Ile)
n.288G>T
12g.116022557C>GCA386872385MED13Lc.524G>C (p.Ser175Thr)
c.494G>C (p.Ser165Thr)
c.434G>C (p.Ser145Thr)
n.288G>C
12g.116022557C>TCA386872384MED13Lc.524G>A (p.Ser175Asn)
c.494G>A (p.Ser165Asn)
c.434G>A (p.Ser145Asn)
n.288G>A
 gnomAD v4
12g.116022558T>ACA386872390MED13Lc.523A>T (p.Ser175Cys)
c.493A>T (p.Ser165Cys)
c.433A>T (p.Ser145Cys)
n.287A>T
12g.116022558T>CCA386872391MED13Lc.523A>G (p.Ser175Gly)
c.493A>G (p.Ser165Gly)
c.433A>G (p.Ser145Gly)
n.287A>G
12g.116022558T>GCA386872393MED13Lc.523A>C (p.Ser175Arg)
c.493A>C (p.Ser165Arg)
c.433A>C (p.Ser145Arg)
n.287A>C
12g.116022559T>ACA386872396MED13Lc.522A>T (p.Glu174Asp)
c.492A>T (p.Glu164Asp)
c.432A>T (p.Glu144Asp)
n.286A>T
12g.116022559T>CCA481933625MED13Lc.522A>G (p.Glu174=)
c.492A>G (p.Glu164=)
c.432A>G (p.Glu144=)
n.286A>G
 dbSNP gnomAD v2 gnomAD v4
12g.116022559T>GCA386872397MED13Lc.522A>C (p.Glu174Asp)
c.492A>C (p.Glu164Asp)
c.432A>C (p.Glu144Asp)
n.286A>C
12g.116022559T=CA2065398767MED13Lc.522A= (p.Glu174=)
c.492A= (p.Glu164=)
c.432A= (p.Glu144=)
n.286A=
12g.116022560T>ACA386872400MED13Lc.521A>T (p.Glu174Val)
c.491A>T (p.Glu164Val)
c.431A>T (p.Glu144Val)
n.285A>T
12g.116022560T>CCA386872401MED13Lc.521A>G (p.Glu174Gly)
c.491A>G (p.Glu164Gly)
c.431A>G (p.Glu144Gly)
n.285A>G
12g.116022560T>GCA386872403MED13Lc.521A>C (p.Glu174Ala)
c.491A>C (p.Glu164Ala)
c.431A>C (p.Glu144Ala)
n.285A>C
12g.116022561C>ACA386872406MED13Lc.520G>T (p.Glu174Ter)
c.490G>T (p.Glu164Ter)
c.430G>T (p.Glu144Ter)
n.284G>T
12g.116022561C>GCA386872407MED13Lc.520G>C (p.Glu174Gln)
c.490G>C (p.Glu164Gln)
c.430G>C (p.Glu144Gln)
n.284G>C
12g.116022561C>TCA386872409MED13Lc.520G>A (p.Glu174Lys)
c.490G>A (p.Glu164Lys)
c.430G>A (p.Glu144Lys)
n.284G>A
12g.116022562T>ACA481933627MED13Lc.519A>T (p.Gly173=)
c.489A>T (p.Gly163=)
c.429A>T (p.Gly143=)
n.283A>T
12g.116022562T>CCA481933628MED13Lc.519A>G (p.Gly173=)
c.489A>G (p.Gly163=)
c.429A>G (p.Gly143=)
n.283A>G
 gnomAD v4
12g.116022562T>GCA481933626MED13Lc.519A>C (p.Gly173=)
c.489A>C (p.Gly163=)
c.429A>C (p.Gly143=)
n.283A>C
12g.116022563C>ACA386872412MED13Lc.518G>T (p.Gly173Val)
c.488G>T (p.Gly163Val)
c.428G>T (p.Gly143Val)
n.282G>T
12g.116022563C>GCA386872413MED13Lc.518G>C (p.Gly173Ala)
c.488G>C (p.Gly163Ala)
c.428G>C (p.Gly143Ala)
n.282G>C
12g.116022563C>TCA386872415MED13Lc.518G>A (p.Gly173Glu)
c.488G>A (p.Gly163Glu)
c.428G>A (p.Gly143Glu)
n.282G>A
12g.116022564C>ACA386872419MED13Lc.517G>T (p.Gly173Ter)
c.487G>T (p.Gly163Ter)
c.427G>T (p.Gly143Ter)
n.281G>T
12g.116022564C>GCA386872421MED13Lc.517G>C (p.Gly173Arg)
c.487G>C (p.Gly163Arg)
c.427G>C (p.Gly143Arg)
n.281G>C
12g.116022564C>TCA386872417MED13Lc.517G>A (p.Gly173Arg)
c.487G>A (p.Gly163Arg)
c.427G>A (p.Gly143Arg)
n.281G>A
 gnomAD v4
12g.116022564_116022565delinsATCA658797961MED13Lc.516_517delinsAT (p.His172GlnfsTer2)
c.486_487delinsAT (p.His162GlnfsTer2)
c.426_427delinsAT (p.His142GlnfsTer2)
n.280_281delinsAT
 ClinVar dbSNP
12g.116022564_116022565delinsCACA2065398775MED13Lc.516_517delinsTG (p.His172=)
c.486_487delinsTG (p.His162=)
c.426_427delinsTG (p.His142=)
n.280_281delinsTG
12g.116022565A>CCA386872423MED13Lc.516T>G (p.His172Gln)
c.486T>G (p.His162Gln)
c.426T>G (p.His142Gln)
n.280T>G
12g.116022565A>GCA481933629MED13Lc.516T>C (p.His172=)
c.486T>C (p.His162=)
c.426T>C (p.His142=)
n.280T>C
12g.116022565A>TCA386872425MED13Lc.516T>A (p.His172Gln)
c.486T>A (p.His162Gln)
c.426T>A (p.His142Gln)
n.280T>A
12g.116022566T>ACA386872428MED13Lc.515A>T (p.His172Leu)
c.485A>T (p.His162Leu)
c.425A>T (p.His142Leu)
n.279A>T
12g.116022566T>CCA386872432MED13Lc.515A>G (p.His172Arg)
c.485A>G (p.His162Arg)
c.425A>G (p.His142Arg)
n.279A>G
 dbSNP gnomAD v2 gnomAD v4
12g.116022566T>GCA386872429MED13Lc.515A>C (p.His172Pro)
c.485A>C (p.His162Pro)
c.425A>C (p.His142Pro)
n.279A>C
12g.116022566T=CA2065398777MED13Lc.515A= (p.His172=)
c.485A= (p.His162=)
c.425A= (p.His142=)
n.279A=
12g.116022567G>ACA386872434MED13Lc.514C>T (p.His172Tyr)
c.484C>T (p.His162Tyr)
c.424C>T (p.His142Tyr)
n.278C>T
12g.116022567G>CCA386872436MED13Lc.514C>G (p.His172Asp)
c.484C>G (p.His162Asp)
c.424C>G (p.His142Asp)
n.278C>G
12g.116022567G>TCA386872438MED13Lc.514C>A (p.His172Asn)
c.484C>A (p.His162Asn)
c.424C>A (p.His142Asn)
n.278C>A
12g.116022568C>ACA481933630MED13Lc.513G>T (p.Leu171=)
c.483G>T (p.Leu161=)
c.423G>T (p.Leu141=)
n.277G>T
 gnomAD v4
12g.116022568C>GCA481933631MED13Lc.513G>C (p.Leu171=)
c.483G>C (p.Leu161=)
c.423G>C (p.Leu141=)
n.277G>C
12g.116022568C>TCA481933632MED13Lc.513G>A (p.Leu171=)
c.483G>A (p.Leu161=)
c.423G>A (p.Leu141=)
n.277G>A
12g.116022569A>CCA386872440MED13Lc.512T>G (p.Leu171Arg)
c.482T>G (p.Leu161Arg)
c.422T>G (p.Leu141Arg)
n.276T>G
12g.116022569A>GCA386872442MED13Lc.512T>C (p.Leu171Pro)
c.482T>C (p.Leu161Pro)
c.422T>C (p.Leu141Pro)
n.276T>C
12g.116022569A>TCA386872443MED13Lc.512T>A (p.Leu171Gln)
c.482T>A (p.Leu161Gln)
c.422T>A (p.Leu141Gln)
n.276T>A
12g.116022570G>ACA481933633MED13Lc.511C>T (p.Leu171=)
c.481C>T (p.Leu161=)
c.421C>T (p.Leu141=)
n.275C>T
 ClinVar
12g.116022570G>CCA386872446MED13Lc.511C>G (p.Leu171Val)
c.481C>G (p.Leu161Val)
c.421C>G (p.Leu141Val)
n.275C>G
12g.116022570G>TCA386872447MED13Lc.511C>A (p.Leu171Met)
c.481C>A (p.Leu161Met)
c.421C>A (p.Leu141Met)
n.275C>A
12g.116022571A=CA2065398782MED13Lc.510T= (p.Phe170=)
c.480T= (p.Phe160=)
c.420T= (p.Phe140=)
n.274T=
12g.116022571A>CCA386872450MED13Lc.510T>G (p.Phe170Leu)
c.480T>G (p.Phe160Leu)
c.420T>G (p.Phe140Leu)
n.274T>G
12g.116022571A>GCA481933634MED13Lc.510T>C (p.Phe170=)
c.480T>C (p.Phe160=)
c.420T>C (p.Phe140=)
n.274T>C
12g.116022571A>TCA6811648MED13Lc.510T>A (p.Phe170Leu)
c.480T>A (p.Phe160Leu)
c.420T>A (p.Phe140Leu)
n.274T>A
 dbSNP ExAC gnomAD v2
12g.116022572A>CCA386872457MED13Lc.509T>G (p.Phe170Cys)
c.479T>G (p.Phe160Cys)
c.419T>G (p.Phe140Cys)
n.273T>G
12g.116022572A>GCA386872456MED13Lc.509T>C (p.Phe170Ser)
c.479T>C (p.Phe160Ser)
c.419T>C (p.Phe140Ser)
n.273T>C
12g.116022572A>TCA386872454MED13Lc.509T>A (p.Phe170Tyr)
c.479T>A (p.Phe160Tyr)
c.419T>A (p.Phe140Tyr)
n.273T>A
12g.116022573A>CCA386872460MED13Lc.508T>G (p.Phe170Val)
c.478T>G (p.Phe160Val)
c.418T>G (p.Phe140Val)
n.272T>G
12g.116022573A>GCA386872462MED13Lc.508T>C (p.Phe170Leu)
c.478T>C (p.Phe160Leu)
c.418T>C (p.Phe140Leu)
n.272T>C
12g.116022573A>TCA386872463MED13Lc.508T>A (p.Phe170Ile)
c.478T>A (p.Phe160Ile)
c.418T>A (p.Phe140Ile)
n.272T>A
12g.116022574G>ACA481933635MED13Lc.507C>T (p.Phe169=)
c.477C>T (p.Phe159=)
c.417C>T (p.Phe139=)
n.271C>T
12g.116022574G>CCA386872466MED13Lc.507C>G (p.Phe169Leu)
c.477C>G (p.Phe159Leu)
c.417C>G (p.Phe139Leu)
n.271C>G
12g.116022574G>TCA386872468MED13Lc.507C>A (p.Phe169Leu)
c.477C>A (p.Phe159Leu)
c.417C>A (p.Phe139Leu)
n.271C>A
12g.116022574_116022575insTCA2575306988MED13Lc.506_507insA (p.Phe169LeufsTer8)
c.476_477insA (p.Phe159LeufsTer8)
c.416_417insA (p.Phe139LeufsTer8)
n.270_271insA
12g.116022575A=CA2065398787MED13Lc.506T= (p.Phe169=)
c.476T= (p.Phe159=)
c.416T= (p.Phe139=)
n.270T=
12g.116022575A>CCA386872469MED13Lc.506T>G (p.Phe169Cys)
c.476T>G (p.Phe159Cys)
c.416T>G (p.Phe139Cys)
n.270T>G
 dbSNP
12g.116022575A>GCA386872470MED13Lc.506T>C (p.Phe169Ser)
c.476T>C (p.Phe159Ser)
c.416T>C (p.Phe139Ser)
n.270T>C
12g.116022575A>TCA386872472MED13Lc.506T>A (p.Phe169Tyr)
c.476T>A (p.Phe159Tyr)
c.416T>A (p.Phe139Tyr)
n.270T>A
12g.116022576A>CCA386872475MED13Lc.505T>G (p.Phe169Val)
c.475T>G (p.Phe159Val)
c.415T>G (p.Phe139Val)
n.269T>G
12g.116022576A>GCA386872476MED13Lc.505T>C (p.Phe169Leu)
c.475T>C (p.Phe159Leu)
c.415T>C (p.Phe139Leu)
n.269T>C
12g.116022576A>TCA386872479MED13Lc.505T>A (p.Phe169Ile)
c.475T>A (p.Phe159Ile)
c.415T>A (p.Phe139Ile)
n.269T>A
12g.116022577T>ACA481933636MED13Lc.504A>T (p.Thr168=)
c.474A>T (p.Thr158=)
c.414A>T (p.Thr138=)
n.268A>T
 dbSNP
12g.116022577T>CCA6811649MED13Lc.504A>G (p.Thr168=)
c.474A>G (p.Thr158=)
c.414A>G (p.Thr138=)
n.268A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022577T>GCA481933637MED13Lc.504A>C (p.Thr168=)
c.474A>C (p.Thr158=)
c.414A>C (p.Thr138=)
n.268A>C
12g.116022577T=CA2065398791MED13Lc.504A= (p.Thr168=)
c.474A= (p.Thr158=)
c.414A= (p.Thr138=)
n.268A=
12g.116022578G>ACA386872484MED13Lc.503C>T (p.Thr168Ile)
c.473C>T (p.Thr158Ile)
c.413C>T (p.Thr138Ile)
n.267C>T
 dbSNP gnomAD v2 gnomAD v4
12g.116022578G>CCA386872486MED13Lc.503C>G (p.Thr168Arg)
c.473C>G (p.Thr158Arg)
c.413C>G (p.Thr138Arg)
n.267C>G
12g.116022578G=CA2065398801MED13Lc.503C= (p.Thr168=)
c.473C= (p.Thr158=)
c.413C= (p.Thr138=)
n.267C=
12g.116022578G>TCA386872482MED13Lc.503C>A (p.Thr168Lys)
c.473C>A (p.Thr158Lys)
c.413C>A (p.Thr138Lys)
n.267C>A
12g.116022579T>ACA386872488MED13Lc.502A>T (p.Thr168Ser)
c.472A>T (p.Thr158Ser)
c.412A>T (p.Thr138Ser)
n.266A>T
12g.116022579T>CCA386872490MED13Lc.502A>G (p.Thr168Ala)
c.472A>G (p.Thr158Ala)
c.412A>G (p.Thr138Ala)
n.266A>G
12g.116022579T>GCA386872492MED13Lc.502A>C (p.Thr168Pro)
c.472A>C (p.Thr158Pro)
c.412A>C (p.Thr138Pro)
n.266A>C
12g.116022580G>ACA481933638MED13Lc.501C>T (p.Phe167=)
c.471C>T (p.Phe157=)
c.411C>T (p.Phe137=)
n.265C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.116022580G>CCA386872494MED13Lc.501C>G (p.Phe167Leu)
c.471C>G (p.Phe157Leu)
c.411C>G (p.Phe137Leu)
n.265C>G
12g.116022580G=CA2065398811MED13Lc.501C= (p.Phe167=)
c.471C= (p.Phe157=)
c.411C= (p.Phe137=)
n.265C=
12g.116022580G>TCA386872495MED13Lc.501C>A (p.Phe167Leu)
c.471C>A (p.Phe157Leu)
c.411C>A (p.Phe137Leu)
n.265C>A
12g.116022581A>CCA386872502MED13Lc.500T>G (p.Phe167Cys)
c.470T>G (p.Phe157Cys)
c.410T>G (p.Phe137Cys)
n.264T>G
12g.116022581A>GCA386872500MED13Lc.500T>C (p.Phe167Ser)
c.470T>C (p.Phe157Ser)
c.410T>C (p.Phe137Ser)
n.264T>C
12g.116022581A>TCA386872498MED13Lc.500T>A (p.Phe167Tyr)
c.470T>A (p.Phe157Tyr)
c.410T>A (p.Phe137Tyr)
n.264T>A
12g.116022583delCA2695217459MED13Lc.500del (p.Phe167SerfsTer25)
c.470del (p.Phe157SerfsTer25)
c.410del (p.Phe137SerfsTer25)
n.264del

Number of alleles fetched