Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.204159487G>ACA344338088RENc.601C>T (p.Gln201Ter)
c.487C>T (p.Gln163Ter)
 gnomAD v4
1g.204159487G>CCA344338086RENc.601C>G (p.Gln201Glu)
c.487C>G (p.Gln163Glu)
1g.204159487G>TCA344338087RENc.601C>A (p.Gln201Lys)
c.487C>A (p.Gln163Lys)
1g.204159488T>ACA344338089RENc.600A>T (p.Glu200Asp)
c.486A>T (p.Glu162Asp)
1g.204159488T>CCA422837397RENc.600A>G (p.Glu200=)
c.486A>G (p.Glu162=)
1g.204159488T>GCA344338090RENc.600A>C (p.Glu200Asp)
c.486A>C (p.Glu162Asp)
1g.204159489T>ACA344338091RENc.599A>T (p.Glu200Val)
c.485A>T (p.Glu162Val)
 gnomAD v4
1g.204159489T>CCA344338093RENc.599A>G (p.Glu200Gly)
c.485A>G (p.Glu162Gly)
1g.204159489T>GCA344338095RENc.599A>C (p.Glu200Ala)
c.485A>C (p.Glu162Ala)
1g.204159490C>ACA344338107RENc.598G>T (p.Glu200Ter)
c.484G>T (p.Glu162Ter)
1g.204159490C>GCA344338097RENc.598G>C (p.Glu200Gln)
c.484G>C (p.Glu162Gln)
1g.204159490C>TCA344338098RENc.598G>A (p.Glu200Lys)
c.484G>A (p.Glu162Lys)
1g.204159491A>CCA344338112RENc.597T>G (p.Ile199Met)
c.483T>G (p.Ile161Met)
1g.204159491A>GCA422837410RENc.597T>C (p.Ile199=)
c.483T>C (p.Ile161=)
1g.204159491A>TCA422837409RENc.597T>A (p.Ile199=)
c.483T>A (p.Ile161=)
1g.204159492A=CA2482057089RENc.596T= (p.Ile199=)
c.482T= (p.Ile161=)
1g.204159492A>CCA344338120RENc.596T>G (p.Ile199Ser)
c.482T>G (p.Ile161Ser)
1g.204159492A>GCA1344884RENc.596T>C (p.Ile199Thr)
c.482T>C (p.Ile161Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159492A>TCA344338119RENc.596T>A (p.Ile199Asn)
c.482T>A (p.Ile161Asn)
1g.204159493T>ACA344338123RENc.595A>T (p.Ile199Phe)
c.481A>T (p.Ile161Phe)
1g.204159493T>CCA344338126RENc.595A>G (p.Ile199Val)
c.481A>G (p.Ile161Val)
1g.204159493T>GCA344338129RENc.595A>C (p.Ile199Leu)
c.481A>C (p.Ile161Leu)
1g.204159494G>ACA35734584RENc.594C>T (p.Phe198=)
c.480C>T (p.Phe160=)
 dbSNP COSMIC
1g.204159494G>CCA344338135RENc.594C>G (p.Phe198Leu)
c.480C>G (p.Phe160Leu)
1g.204159494G=CA1142344842RENc.594C= (p.Phe198=)
c.480C= (p.Phe160=)
1g.204159494G>TCA344338132RENc.594C>A (p.Phe198Leu)
c.480C>A (p.Phe160Leu)
1g.204159495A>CCA344338140RENc.593T>G (p.Phe198Cys)
c.479T>G (p.Phe160Cys)
1g.204159495A>GCA344338142RENc.593T>C (p.Phe198Ser)
c.479T>C (p.Phe160Ser)
1g.204159495A>TCA344338145RENc.593T>A (p.Phe198Tyr)
c.479T>A (p.Phe160Tyr)
1g.204159496A>CCA344338149RENc.592T>G (p.Phe198Val)
c.478T>G (p.Phe160Val)
1g.204159496A>GCA344338154RENc.592T>C (p.Phe198Leu)
c.478T>C (p.Phe160Leu)
1g.204159496A>TCA344338157RENc.592T>A (p.Phe198Ile)
c.478T>A (p.Phe160Ile)
1g.204159497G>ACA422837411RENc.591C>T (p.Gly197=)
c.477C>T (p.Gly159=)
 gnomAD v4
1g.204159497G>CCA422837412RENc.591C>G (p.Gly197=)
c.477C>G (p.Gly159=)
1g.204159497G>TCA422837413RENc.591C>A (p.Gly197=)
c.477C>A (p.Gly159=)
1g.204159498C>ACA344338171RENc.590G>T (p.Gly197Val)
c.476G>T (p.Gly159Val)
1g.204159498C>GCA344338160RENc.590G>C (p.Gly197Ala)
c.476G>C (p.Gly159Ala)
1g.204159498C>TCA344338168RENc.590G>A (p.Gly197Asp)
c.476G>A (p.Gly159Asp)
1g.204159500delCA2697919016RENc.590del (p.Gly197AlafsTer23)
c.476del (p.Gly159AlafsTer23)
 dbSNP
1g.204159499C>ACA344338173RENc.589G>T (p.Gly197Cys)
c.475G>T (p.Gly159Cys)
1g.204159499C>GCA344338175RENc.589G>C (p.Gly197Arg)
c.475G>C (p.Gly159Arg)
1g.204159499C>TCA344338177RENc.589G>A (p.Gly197Ser)
c.475G>A (p.Gly159Ser)
 dbSNP gnomAD v4
1g.204159500C>ACA344338180RENc.588G>T (p.Met196Ile)
c.474G>T (p.Met158Ile)
1g.204159500C=CA2482057090RENc.588G= (p.Met196=)
c.474G= (p.Met158=)
1g.204159500C>GCA344338182RENc.588G>C (p.Met196Ile)
c.474G>C (p.Met158Ile)
1g.204159500C>TCA344338185RENc.588G>A (p.Met196Ile)
c.474G>A (p.Met158Ile)
 dbSNP
1g.204159501A=CA2482057091RENc.587T= (p.Met196=)
c.473T= (p.Met158=)
1g.204159501A>CCA344338187RENc.587T>G (p.Met196Arg)
c.473T>G (p.Met158Arg)
1g.204159501A>GCA344338188RENc.587T>C (p.Met196Thr)
c.473T>C (p.Met158Thr)
 dbSNP gnomAD v4
1g.204159501A>TCA344338189RENc.587T>A (p.Met196Lys)
c.473T>A (p.Met158Lys)
1g.204159502T>ACA344338191RENc.586A>T (p.Met196Leu)
c.472A>T (p.Met158Leu)
1g.204159502T>CCA344338193RENc.586A>G (p.Met196Val)
c.472A>G (p.Met158Val)
 gnomAD v4
1g.204159502T>GCA344338196RENc.586A>C (p.Met196Leu)
c.472A>C (p.Met158Leu)
1g.204159503G>ACA422837414RENc.585C>T (p.Gly195=)
c.471C>T (p.Gly157=)
 gnomAD v4
1g.204159503G>CCA422837415RENc.585C>G (p.Gly195=)
c.471C>G (p.Gly157=)
1g.204159503G>TCA422837416RENc.585C>A (p.Gly195=)
c.471C>A (p.Gly157=)
1g.204159504C>ACA344338199RENc.584G>T (p.Gly195Val)
c.470G>T (p.Gly157Val)
1g.204159504C=CA2482057092RENc.584G= (p.Gly195=)
c.470G= (p.Gly157=)
1g.204159504C>GCA344338208RENc.584G>C (p.Gly195Ala)
c.470G>C (p.Gly157Ala)
1g.204159504C>TCA1344885RENc.584G>A (p.Gly195Asp)
c.470G>A (p.Gly157Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159505C>ACA344338211RENc.583G>T (p.Gly195Cys)
c.469G>T (p.Gly157Cys)
1g.204159505C>GCA344338212RENc.583G>C (p.Gly195Arg)
c.469G>C (p.Gly157Arg)
1g.204159505C>TCA344338215RENc.583G>A (p.Gly195Ser)
c.469G>A (p.Gly157Ser)
1g.204159506C>ACA422837417RENc.582G>T (p.Val194=)
c.468G>T (p.Val156=)
1g.204159506C>GCA422837418RENc.582G>C (p.Val194=)
c.468G>C (p.Val156=)
 gnomAD v4
1g.204159506C>TCA422837419RENc.582G>A (p.Val194=)
c.468G>A (p.Val156=)
1g.204159507A>CCA344338218RENc.581T>G (p.Val194Gly)
c.467T>G (p.Val156Gly)
1g.204159507A>GCA344338219RENc.581T>C (p.Val194Ala)
c.467T>C (p.Val156Ala)
 gnomAD v4 COSMIC
1g.204159507A>TCA344338221RENc.581T>A (p.Val194Glu)
c.467T>A (p.Val156Glu)
1g.204159508C>ACA344338223RENc.580G>T (p.Val194Leu)
c.466G>T (p.Val156Leu)
1g.204159508C>GCA344338225RENc.580G>C (p.Val194Leu)
c.466G>C (p.Val156Leu)
1g.204159508C>TCA344338229RENc.580G>A (p.Val194Met)
c.466G>A (p.Val156Met)
1g.204159509A>CCA422837422RENc.579T>G (p.Val193=)
c.465T>G (p.Val155=)
1g.204159509A>GCA422837424RENc.579T>C (p.Val193=)
c.465T>C (p.Val155=)
1g.204159509A>TCA422837423RENc.579T>A (p.Val193=)
c.465T>A (p.Val155=)
 gnomAD v4
1g.204159510A=CA2482057093RENc.578T= (p.Val193=)
c.464T= (p.Val155=)
1g.204159510A>CCA344338233RENc.578T>G (p.Val193Gly)
c.464T>G (p.Val155Gly)
1g.204159510A>GCA344338236RENc.578T>C (p.Val193Ala)
c.464T>C (p.Val155Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.204159510A>TCA344338239RENc.578T>A (p.Val193Asp)
c.464T>A (p.Val155Asp)
1g.204159511C>ACA344338251RENc.577G>T (p.Val193Phe)
c.463G>T (p.Val155Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.204159511C=CA2482057094RENc.577G= (p.Val193=)
c.463G= (p.Val155=)
1g.204159511C>GCA344338243RENc.577G>C (p.Val193Leu)
c.463G>C (p.Val155Leu)
1g.204159511C>TCA344338245RENc.577G>A (p.Val193Ile)
c.463G>A (p.Val155Ile)
1g.204159512C>ACA422837425RENc.576G>T (p.Gly192=)
c.462G>T (p.Gly154=)
 dbSNP
1g.204159512C=CA2482057095RENc.576G= (p.Gly192=)
c.462G= (p.Gly154=)
1g.204159512C>GCA422837426RENc.576G>C (p.Gly192=)
c.462G>C (p.Gly154=)
 gnomAD v4
1g.204159512C>TCA422837427RENc.576G>A (p.Gly192=)
c.462G>A (p.Gly154=)
1g.204159513C>ACA344338255RENc.575G>T (p.Gly192Val)
c.461G>T (p.Gly154Val)
1g.204159513C>GCA344338259RENc.575G>C (p.Gly192Ala)
c.461G>C (p.Gly154Ala)
1g.204159513C>TCA344338260RENc.575G>A (p.Gly192Glu)
c.461G>A (p.Gly154Glu)
1g.204159514C>ACA344338262RENc.574G>T (p.Gly192Trp)
c.460G>T (p.Gly154Trp)
 COSMIC
1g.204159514C>GCA344338264RENc.574G>C (p.Gly192Arg)
c.460G>C (p.Gly154Arg)
1g.204159514C>TCA344338266RENc.574G>A (p.Gly192Arg)
c.460G>A (p.Gly154Arg)
 gnomAD v4 COSMIC
1g.204159515A=CA1143782686RENc.573T= (p.Asp191=)
c.459T= (p.Asp153=)
1g.204159515A>CCA344338269RENc.573T>G (p.Asp191Glu)
c.459T>G (p.Asp153Glu)
1g.204159515A>GCA35734590RENc.573T>C (p.Asp191=)
c.459T>C (p.Asp153=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159515A>TCA344338274RENc.573T>A (p.Asp191Glu)
c.459T>A (p.Asp153Glu)
1g.204159516T>ACA344338278RENc.572A>T (p.Asp191Val)
c.458A>T (p.Asp153Val)
1g.204159516T>CCA344338281RENc.572A>G (p.Asp191Gly)
c.458A>G (p.Asp153Gly)
1g.204159516T>GCA344338284RENc.572A>C (p.Asp191Ala)
c.458A>C (p.Asp153Ala)
1g.204159517C>ACA344338287RENc.571G>T (p.Asp191Tyr)
c.457G>T (p.Asp153Tyr)
1g.204159517C>GCA344338286RENc.571G>C (p.Asp191His)
c.457G>C (p.Asp153His)
1g.204159517C>TCA344338285RENc.571G>A (p.Asp191Asn)
c.457G>A (p.Asp153Asn)
1g.204159518A>CCA344338290RENc.570T>G (p.Phe190Leu)
c.456T>G (p.Phe152Leu)
1g.204159518A>GCA422837428RENc.570T>C (p.Phe190=)
c.456T>C (p.Phe152=)
1g.204159518A>TCA344338289RENc.570T>A (p.Phe190Leu)
c.456T>A (p.Phe152Leu)
1g.204159519A>CCA344338298RENc.569T>G (p.Phe190Cys)
c.455T>G (p.Phe152Cys)
1g.204159519A>GCA344338293RENc.569T>C (p.Phe190Ser)
c.455T>C (p.Phe152Ser)
1g.204159519A>TCA344338297RENc.569T>A (p.Phe190Tyr)
c.455T>A (p.Phe152Tyr)
1g.204159520A>CCA344338302RENc.568T>G (p.Phe190Val)
c.454T>G (p.Phe152Val)
1g.204159520A>GCA344338305RENc.568T>C (p.Phe190Leu)
c.454T>C (p.Phe152Leu)
1g.204159520A>TCA344338308RENc.568T>A (p.Phe190Ile)
c.454T>A (p.Phe152Ile)
1g.204159521C>ACA344338311RENc.567G>T (p.Glu189Asp)
c.453G>T (p.Glu151Asp)
 COSMIC
1g.204159521C=CA1143381308RENc.567G= (p.Glu189=)
c.453G= (p.Glu151=)
1g.204159521C>GCA344338315RENc.567G>C (p.Glu189Asp)
c.453G>C (p.Glu151Asp)
1g.204159521C>TCA1344886RENc.567G>A (p.Glu189=)
c.453G>A (p.Glu151=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159522T>ACA344338323RENc.566A>T (p.Glu189Val)
c.452A>T (p.Glu151Val)
1g.204159522T>CCA344338326RENc.566A>G (p.Glu189Gly)
c.452A>G (p.Glu151Gly)
1g.204159522T>GCA344338329RENc.566A>C (p.Glu189Ala)
c.452A>C (p.Glu151Ala)
1g.204159523C>ACA344338331RENc.565G>T (p.Glu189Ter)
c.451G>T (p.Glu151Ter)
1g.204159523C=CA2482057096RENc.565G= (p.Glu189=)
c.451G= (p.Glu151=)
1g.204159523C>GCA344338334RENc.565G>C (p.Glu189Gln)
c.451G>C (p.Glu151Gln)
1g.204159523C>TCA1344887RENc.565G>A (p.Glu189Lys)
c.451G>A (p.Glu151Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204159524G>ACA1344888RENc.564C>T (p.Ala188=)
c.450C>T (p.Ala150=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204159524G>CCA422837429RENc.564C>G (p.Ala188=)
c.450C>G (p.Ala150=)
1g.204159524G=CA2482057097RENc.564C= (p.Ala188=)
c.450C= (p.Ala150=)
1g.204159524G>TCA1344889RENc.564C>A (p.Ala188=)
c.450C>A (p.Ala150=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159525G>ACA1344890RENc.563C>T (p.Ala188Val)
c.449C>T (p.Ala150Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159525G>CCA344338352RENc.563C>G (p.Ala188Gly)
c.449C>G (p.Ala150Gly)
1g.204159525G=CA2482057098RENc.563C= (p.Ala188=)
c.449C= (p.Ala150=)
1g.204159525G>TCA344338356RENc.563C>A (p.Ala188Asp)
c.449C>A (p.Ala150Asp)
1g.204159526C>ACA344338361RENc.562G>T (p.Ala188Ser)
c.448G>T (p.Ala150Ser)
1g.204159526C=CA2482057099RENc.562G= (p.Ala188=)
c.448G= (p.Ala150=)
1g.204159526C>GCA344338363RENc.562G>C (p.Ala188Pro)
c.448G>C (p.Ala150Pro)
1g.204159526C>TCA344338365RENc.562G>A (p.Ala188Thr)
c.448G>A (p.Ala150Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.204159527C>ACA422837431RENc.561G>T (p.Leu187=)
c.447G>T (p.Leu149=)
1g.204159527C>GCA422837432RENc.561G>C (p.Leu187=)
c.447G>C (p.Leu149=)
1g.204159527C>TCA422837433RENc.561G>A (p.Leu187=)
c.447G>A (p.Leu149=)
1g.204159528A>CCA344338368RENc.560T>G (p.Leu187Arg)
c.446T>G (p.Leu149Arg)
1g.204159528A>GCA344338371RENc.560T>C (p.Leu187Pro)
c.446T>C (p.Leu149Pro)
1g.204159528A>TCA344338374RENc.560T>A (p.Leu187Gln)
c.446T>A (p.Leu149Gln)
1g.204159529G>ACA422837435RENc.559C>T (p.Leu187=)
c.445C>T (p.Leu149=)
1g.204159529G>CCA344338377RENc.559C>G (p.Leu187Val)
c.445C>G (p.Leu149Val)
 gnomAD v4
1g.204159529G>TCA344338380RENc.559C>A (p.Leu187Met)
c.445C>A (p.Leu149Met)
 gnomAD v4
1g.204159530C>ACA344338391RENc.558G>T (p.Met186Ile)
c.444G>T (p.Met148Ile)
1g.204159530C=CA2482057100RENc.558G= (p.Met186=)
c.444G= (p.Met148=)
1g.204159530C>GCA344338388RENc.558G>C (p.Met186Ile)
c.444G>C (p.Met148Ile)
1g.204159530C>TCA1344891RENc.558G>A (p.Met186Ile)
c.444G>A (p.Met148Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159531A>CCA344338395RENc.557T>G (p.Met186Arg)
c.443T>G (p.Met148Arg)
1g.204159531A>GCA344338398RENc.557T>C (p.Met186Thr)
c.443T>C (p.Met148Thr)
1g.204159531A>TCA344338401RENc.557T>A (p.Met186Lys)
c.443T>A (p.Met148Lys)
1g.204159532T>ACA344338406RENc.556A>T (p.Met186Leu)
c.442A>T (p.Met148Leu)
1g.204159532T>CCA344338408RENc.556A>G (p.Met186Val)
c.442A>G (p.Met148Val)
1g.204159532T>GCA344338411RENc.556A>C (p.Met186Leu)
c.442A>C (p.Met148Leu)
1g.204159533G>ACA422837440RENc.555C>T (p.Phe185=)
c.441C>T (p.Phe147=)
 gnomAD v4
1g.204159533G>CCA344338414RENc.555C>G (p.Phe185Leu)
c.441C>G (p.Phe147Leu)
1g.204159533G>TCA344338417RENc.555C>A (p.Phe185Leu)
c.441C>A (p.Phe147Leu)
1g.204159534A>CCA344338422RENc.554T>G (p.Phe185Cys)
c.440T>G (p.Phe147Cys)
1g.204159534A>GCA344338426RENc.554T>C (p.Phe185Ser)
c.440T>C (p.Phe147Ser)
 gnomAD v4
1g.204159534A>TCA344338434RENc.554T>A (p.Phe185Tyr)
c.440T>A (p.Phe147Tyr)
1g.204159535A=CA2482057101RENc.553T= (p.Phe185=)
c.439T= (p.Phe147=)
1g.204159535A>CCA344338439RENc.553T>G (p.Phe185Val)
c.439T>G (p.Phe147Val)
 gnomAD v4
1g.204159535A>GCA344338441RENc.553T>C (p.Phe185Leu)
c.439T>C (p.Phe147Leu)
 dbSNP
1g.204159535A>TCA344338443RENc.553T>A (p.Phe185Ile)
c.439T>A (p.Phe147Ile)
1g.204159536G>ACA1344892RENc.552C>T (p.Pro184=)
c.438C>T (p.Pro146=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159536G>CCA422837442RENc.552C>G (p.Pro184=)
c.438C>G (p.Pro146=)
1g.204159536G=CA1143948657RENc.552C= (p.Pro184=)
c.438C= (p.Pro146=)
1g.204159536G>TCA422837443RENc.552C>A (p.Pro184=)
c.438C>A (p.Pro146=)
1g.204159537G>ACA344338450RENc.551C>T (p.Pro184Leu)
c.437C>T (p.Pro146Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.204159537G>CCA344338454RENc.551C>G (p.Pro184Arg)
c.437C>G (p.Pro146Arg)
1g.204159537G=CA2482057102RENc.551C= (p.Pro184=)
c.437C= (p.Pro146=)
1g.204159537G>TCA344338457RENc.551C>A (p.Pro184His)
c.437C>A (p.Pro146His)
1g.204159538G>ACA344338461RENc.550C>T (p.Pro184Ser)
c.436C>T (p.Pro146Ser)
1g.204159538G>CCA344338463RENc.550C>G (p.Pro184Ala)
c.436C>G (p.Pro146Ala)
1g.204159538G>TCA344338474RENc.550C>A (p.Pro184Thr)
c.436C>A (p.Pro146Thr)
1g.204159539T>ACA344338477RENc.549A>T (p.Leu183Phe)
c.435A>T (p.Leu145Phe)
 gnomAD v4
1g.204159539T>CCA422837444RENc.549A>G (p.Leu183=)
c.435A>G (p.Leu145=)
1g.204159539T>GCA344338478RENc.549A>C (p.Leu183Phe)
c.435A>C (p.Leu145Phe)
1g.204159540A>CCA344338482RENc.548T>G (p.Leu183Ter)
c.434T>G (p.Leu145Ter)
1g.204159540A>GCA344338484RENc.548T>C (p.Leu183Ser)
c.434T>C (p.Leu145Ser)
1g.204159540A>TCA344338486RENc.548T>A (p.Leu183Ter)
c.434T>A (p.Leu145Ter)
1g.204159541A>CCA344338490RENc.547T>G (p.Leu183Val)
c.433T>G (p.Leu145Val)
1g.204159541A>GCA422837445RENc.547T>C (p.Leu183=)
c.433T>C (p.Leu145=)
 gnomAD v4
1g.204159541A>TCA344338493RENc.547T>A (p.Leu183Ile)
c.433T>A (p.Leu145Ile)
1g.204159542G>ACA422837446RENc.546C>T (p.Ala182=)
c.432C>T (p.Ala144=)
1g.204159542G>CCA422837447RENc.546C>G (p.Ala182=)
c.432C>G (p.Ala144=)
1g.204159542G>TCA422837448RENc.546C>A (p.Ala182=)
c.432C>A (p.Ala144=)
1g.204159543G>ACA344338500RENc.545C>T (p.Ala182Val)
c.431C>T (p.Ala144Val)
 COSMIC
1g.204159543G>CCA344338503RENc.545C>G (p.Ala182Gly)
c.431C>G (p.Ala144Gly)
 gnomAD v4
1g.204159543G>TCA344338497RENc.545C>A (p.Ala182Asp)
c.431C>A (p.Ala144Asp)
1g.204159544C>ACA344338507RENc.544G>T (p.Ala182Ser)
c.430G>T (p.Ala144Ser)
1g.204159544C=CA2482057103RENc.544G= (p.Ala182=)
c.430G= (p.Ala144=)
1g.204159544C>GCA344338512RENc.544G>C (p.Ala182Pro)
c.430G>C (p.Ala144Pro)
1g.204159544C>TCA344338509RENc.544G>A (p.Ala182Thr)
c.430G>A (p.Ala144Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159545G>ACA1344893RENc.543C>T (p.Pro181=)
c.429C>T (p.Pro143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159545G>CCA422837449RENc.543C>G (p.Pro181=)
c.429C>G (p.Pro143=)
1g.204159545G=CA2482057104RENc.543C= (p.Pro181=)
c.429C= (p.Pro143=)
1g.204159545G>TCA422837450RENc.543C>A (p.Pro181=)
c.429C>A (p.Pro143=)
1g.204159546G>ACA344338520RENc.542C>T (p.Pro181Leu)
c.428C>T (p.Pro143Leu)
1g.204159546G>CCA344338516RENc.542C>G (p.Pro181Arg)
c.428C>G (p.Pro143Arg)
1g.204159546G>TCA344338518RENc.542C>A (p.Pro181His)
c.428C>A (p.Pro143His)
1g.204159547G>ACA344338522RENc.541C>T (p.Pro181Ser)
c.427C>T (p.Pro143Ser)
1g.204159547G>CCA344338524RENc.541C>G (p.Pro181Ala)
c.427C>G (p.Pro143Ala)
1g.204159547G>TCA344338526RENc.541C>A (p.Pro181Thr)
c.427C>A (p.Pro143Thr)
 gnomAD v4
1g.204159548C>ACA344338529RENc.540G>T (p.Met180Ile)
c.426G>T (p.Met142Ile)
1g.204159548C>GCA344338531RENc.540G>C (p.Met180Ile)
c.426G>C (p.Met142Ile)
1g.204159548C>TCA344338533RENc.540G>A (p.Met180Ile)
c.426G>A (p.Met142Ile)
1g.204159549A=CA2482057105RENc.539T= (p.Met180=)
c.425T= (p.Met142=)
1g.204159549A>CCA344338534RENc.539T>G (p.Met180Arg)
c.425T>G (p.Met142Arg)
1g.204159549A>GCA1344894RENc.539T>C (p.Met180Thr)
c.425T>C (p.Met142Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159549A>TCA344338541RENc.539T>A (p.Met180Lys)
c.425T>A (p.Met142Lys)
1g.204159550T>ACA344338544RENc.538A>T (p.Met180Leu)
c.424A>T (p.Met142Leu)
1g.204159550T>CCA344338545RENc.538A>G (p.Met180Val)
c.424A>G (p.Met142Val)
1g.204159550T>GCA344338548RENc.538A>C (p.Met180Leu)
c.424A>C (p.Met142Leu)
1g.204159551C>ACA344338550RENc.537G>T (p.Glu179Asp)
c.423G>T (p.Glu141Asp)
1g.204159551C>GCA344338552RENc.537G>C (p.Glu179Asp)
c.423G>C (p.Glu141Asp)
1g.204159551C>TCA422837451RENc.537G>A (p.Glu179=)
c.423G>A (p.Glu141=)
1g.204159552T>ACA344338554RENc.536A>T (p.Glu179Val)
c.422A>T (p.Glu141Val)
1g.204159552T>CCA344338556RENc.536A>G (p.Glu179Gly)
c.422A>G (p.Glu141Gly)
1g.204159552T>GCA344338557RENc.536A>C (p.Glu179Ala)
c.422A>C (p.Glu141Ala)
1g.204159553C>ACA344338561RENc.535G>T (p.Glu179Ter)
c.421G>T (p.Glu141Ter)
1g.204159553C>GCA344338563RENc.535G>C (p.Glu179Gln)
c.421G>C (p.Glu141Gln)
 gnomAD v4
1g.204159553C>TCA344338565RENc.535G>A (p.Glu179Lys)
c.421G>A (p.Glu141Lys)
 gnomAD v4
1g.204159554C>ACA35734610RENc.534G>T (p.Thr178=)
c.420G>T (p.Thr140=)
 dbSNP
1g.204159554C=CA2482057106RENc.534G= (p.Thr178=)
c.420G= (p.Thr140=)
1g.204159554C>GCA422837452RENc.534G>C (p.Thr178=)
c.420G>C (p.Thr140=)
 COSMIC
1g.204159554C>TCA422837453RENc.534G>A (p.Thr178=)
c.420G>A (p.Thr140=)
 dbSNP gnomAD v4 COSMIC
1g.204159555G>ACA1344895RENc.533C>T (p.Thr178Met)
c.419C>T (p.Thr140Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159555G>CCA344338567RENc.533C>G (p.Thr178Arg)
c.419C>G (p.Thr140Arg)
1g.204159555G=CA1142178869RENc.533C= (p.Thr178=)
c.419C= (p.Thr140=)
1g.204159555G>TCA344338570RENc.533C>A (p.Thr178Lys)
c.419C>A (p.Thr140Lys)
1g.204159556T>ACA344338572RENc.532A>T (p.Thr178Ser)
c.418A>T (p.Thr140Ser)
1g.204159556T>CCA344338574RENc.532A>G (p.Thr178Ala)
c.418A>G (p.Thr140Ala)
1g.204159556T>GCA344338577RENc.532A>C (p.Thr178Pro)
c.418A>C (p.Thr140Pro)
1g.204159557G>ACA422837454RENc.531C>T (p.Val177=)
c.417C>T (p.Val139=)
1g.204159557G>CCA422837455RENc.531C>G (p.Val177=)
c.417C>G (p.Val139=)
 gnomAD v4
1g.204159557G>TCA422837456RENc.531C>A (p.Val177=)
c.417C>A (p.Val139=)
1g.204159558A>CCA344338580RENc.530T>G (p.Val177Gly)
c.416T>G (p.Val139Gly)
1g.204159558A>GCA344338584RENc.530T>C (p.Val177Ala)
c.416T>C (p.Val139Ala)
1g.204159558A>TCA344338581RENc.530T>A (p.Val177Asp)
c.416T>A (p.Val139Asp)
1g.204159559C>ACA344338587RENc.529G>T (p.Val177Phe)
c.415G>T (p.Val139Phe)
1g.204159559C>GCA344338589RENc.529G>C (p.Val177Leu)
c.415G>C (p.Val139Leu)
1g.204159559C>TCA344338591RENc.529G>A (p.Val177Ile)
c.415G>A (p.Val139Ile)
1g.204159560C>ACA344338595RENc.528G>T (p.Glu176Asp)
c.414G>T (p.Glu138Asp)
1g.204159560C>GCA344338597RENc.528G>C (p.Glu176Asp)
c.414G>C (p.Glu138Asp)
1g.204159560C>TCA422837457RENc.528G>A (p.Glu176=)
c.414G>A (p.Glu138=)
1g.204159561T>ACA344338598RENc.527A>T (p.Glu176Val)
c.413A>T (p.Glu138Val)
1g.204159561T>CCA344338599RENc.527A>G (p.Glu176Gly)
c.413A>G (p.Glu138Gly)
1g.204159561T>GCA344338600RENc.527A>C (p.Glu176Ala)
c.413A>C (p.Glu138Ala)
1g.204159562C>ACA344338601RENc.526G>T (p.Glu176Ter)
c.412G>T (p.Glu138Ter)
1g.204159562C=CA2482057107RENc.526G= (p.Glu176=)
c.412G= (p.Glu138=)
1g.204159562C>GCA344338602RENc.526G>C (p.Glu176Gln)
c.412G>C (p.Glu138Gln)
1g.204159562C>TCA344338604RENc.526G>A (p.Glu176Lys)
c.412G>A (p.Glu138Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.204159563T>ACA422837458RENc.525A>T (p.Gly175=)
c.411A>T (p.Gly137=)
 gnomAD v4
1g.204159563T>CCA422837459RENc.525A>G (p.Gly175=)
c.411A>G (p.Gly137=)
1g.204159563T>GCA422837460RENc.525A>C (p.Gly175=)
c.411A>C (p.Gly137=)
1g.204159564C>ACA35734614RENc.524G>T (p.Gly175Val)
c.410G>T (p.Gly137Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159564C=CA2482057108RENc.524G= (p.Gly175=)
c.410G= (p.Gly137=)
1g.204159564C>GCA344338606RENc.524G>C (p.Gly175Ala)
c.410G>C (p.Gly137Ala)
1g.204159564C>TCA344338609RENc.524G>A (p.Gly175Glu)
c.410G>A (p.Gly137Glu)
 dbSNP
1g.204159565C>ACA344338614RENc.523G>T (p.Gly175Ter)
c.409G>T (p.Gly137Ter)
1g.204159565C>GCA344338616RENc.523G>C (p.Gly175Arg)
c.409G>C (p.Gly137Arg)
1g.204159565C>TCA344338623RENc.523G>A (p.Gly175Arg)
c.409G>A (p.Gly137Arg)
1g.204159566A>CCA344338625RENc.522T>G (p.Phe174Leu)
c.408T>G (p.Phe136Leu)
1g.204159566A>GCA422837461RENc.522T>C (p.Phe174=)
c.408T>C (p.Phe136=)
1g.204159566A>TCA344338628RENc.522T>A (p.Phe174Leu)
c.408T>A (p.Phe136Leu)
1g.204159567A>CCA344338633RENc.521T>G (p.Phe174Cys)
c.407T>G (p.Phe136Cys)
1g.204159567A>GCA344338635RENc.521T>C (p.Phe174Ser)
c.407T>C (p.Phe136Ser)
 gnomAD v4 COSMIC
1g.204159567A>TCA344338636RENc.521T>A (p.Phe174Tyr)
c.407T>A (p.Phe136Tyr)
1g.204159568A>CCA344338640RENc.520T>G (p.Phe174Val)
c.406T>G (p.Phe136Val)
 gnomAD v4
1g.204159568A>GCA344338642RENc.520T>C (p.Phe174Leu)
c.406T>C (p.Phe136Leu)
1g.204159568A>TCA344338646RENc.520T>A (p.Phe174Ile)
c.406T>A (p.Phe136Ile)
1g.204159569C>ACA344338651RENc.519G>T (p.Met173Ile)
c.405G>T (p.Met135Ile)
1g.204159569C=CA2482057109RENc.519G= (p.Met173=)
c.405G= (p.Met135=)
1g.204159569C>GCA344338653RENc.519G>C (p.Met173Ile)
c.405G>C (p.Met135Ile)
1g.204159569C>TCA344338650RENc.519G>A (p.Met173Ile)
c.405G>A (p.Met135Ile)
 dbSNP gnomAD v4
1g.204159570A>CCA344338667RENc.518T>G (p.Met173Arg)
c.404T>G (p.Met135Arg)
1g.204159570A>GCA344338655RENc.518T>C (p.Met173Thr)
c.404T>C (p.Met135Thr)
 ClinVar gnomAD v4
1g.204159570A>TCA344338659RENc.518T>A (p.Met173Lys)
c.404T>A (p.Met135Lys)
1g.204159570_204159572delinsATCCA2482057110RENc.516_518delinsGAT (p.Gln172=)
c.402_404delinsGAT (p.Gln134=)
1g.204159571T>ACA344338672RENc.517A>T (p.Met173Leu)
c.403A>T (p.Met135Leu)
1g.204159571T>CCA344338675RENc.517A>G (p.Met173Val)
c.403A>G (p.Met135Val)
1g.204159571T>GCA344338676RENc.517A>C (p.Met173Leu)
c.403A>C (p.Met135Leu)
1g.204159572_204159573delCA1344896RENc.516_517del (p.Gln172HisfsTer19)
c.402_403del (p.Gln134HisfsTer19)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159572C>ACA344338678RENc.516G>T (p.Gln172His)
c.402G>T (p.Gln134His)
1g.204159572C>GCA344338680RENc.516G>C (p.Gln172His)
c.402G>C (p.Gln134His)
1g.204159572C>TCA422837462RENc.516G>A (p.Gln172=)
c.402G>A (p.Gln134=)
1g.204159572_204159574delinsCTGCA2482057111RENc.514_516delinsCAG (p.Gln172=)
c.400_402delinsCAG (p.Gln134=)
1g.204159573T>ACA344338684RENc.515A>T (p.Gln172Leu)
c.401A>T (p.Gln134Leu)
1g.204159573T>CCA344338688RENc.515A>G (p.Gln172Arg)
c.401A>G (p.Gln134Arg)
1g.204159573T>GCA344338691RENc.515A>C (p.Gln172Pro)
c.401A>C (p.Gln134Pro)
1g.204159576_204159577delCA1344897RENc.514_515del (p.Gln172AspfsTer19)
c.400_401del (p.Gln134AspfsTer19)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159574G>ACA35734626RENc.514C>T (p.Gln172Ter)
c.400C>T (p.Gln134Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159574G>CCA35734623RENc.514C>G (p.Gln172Glu)
c.400C>G (p.Gln134Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.204159574G=CA1141703478RENc.514C= (p.Gln172=)
c.400C= (p.Gln134=)
1g.204159574G>TCA344338695RENc.514C>A (p.Gln172Lys)
c.400C>A (p.Gln134Lys)
1g.204159575T>ACA422837463RENc.513A>T (p.Thr171=)
c.399A>T (p.Thr133=)
1g.204159575T>CCA1344898RENc.513A>G (p.Thr171=)
c.399A>G (p.Thr133=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204159575T>GCA422837464RENc.513A>C (p.Thr171=)
c.399A>C (p.Thr133=)
1g.204159575T=CA2482057112RENc.513A= (p.Thr171=)
c.399A= (p.Thr133=)
1g.204159576G>ACA344338705RENc.512C>T (p.Thr171Ile)
c.398C>T (p.Thr133Ile)
1g.204159576G>CCA344338708RENc.512C>G (p.Thr171Arg)
c.398C>G (p.Thr133Arg)
1g.204159576G>TCA344338711RENc.512C>A (p.Thr171Lys)
c.398C>A (p.Thr133Lys)
1g.204159577T>ACA344338715RENc.511A>T (p.Thr171Ser)
c.397A>T (p.Thr133Ser)
1g.204159577T>CCA344338718RENc.511A>G (p.Thr171Ala)
c.397A>G (p.Thr133Ala)
1g.204159577T>GCA344338719RENc.511A>C (p.Thr171Pro)
c.397A>C (p.Thr133Pro)
1g.204159578C>ACA422837466RENc.510G>T (p.Val170=)
c.396G>T (p.Val132=)
1g.204159578C>GCA422837467RENc.510G>C (p.Val170=)
c.396G>C (p.Val132=)
1g.204159578C>TCA422837469RENc.510G>A (p.Val170=)
c.396G>A (p.Val132=)
1g.204159579A>CCA344338720RENc.509T>G (p.Val170Gly)
c.395T>G (p.Val132Gly)
1g.204159579A>GCA344338721RENc.509T>C (p.Val170Ala)
c.395T>C (p.Val132Ala)
1g.204159579A>TCA344338722RENc.509T>A (p.Val170Glu)
c.395T>A (p.Val132Glu)
1g.204159580C>ACA344338724RENc.508G>T (p.Val170Leu)
c.394G>T (p.Val132Leu)
1g.204159580C>GCA344338727RENc.508G>C (p.Val170Leu)
c.394G>C (p.Val132Leu)
1g.204159580C>TCA344338731RENc.508G>A (p.Val170Met)
c.394G>A (p.Val132Met)
 gnomAD v4
1g.204159581C>ACA422837473RENc.507G>T (p.Thr169=)
c.393G>T (p.Thr131=)
1g.204159581C=CA2482057113RENc.507G= (p.Thr169=)
c.393G= (p.Thr131=)
1g.204159581C>GCA422837475RENc.507G>C (p.Thr169=)
c.393G>C (p.Thr131=)
1g.204159581C>TCA1344899RENc.507G>A (p.Thr169=)
c.393G>A (p.Thr131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159582G>ACA35734635RENc.506C>T (p.Thr169Met)
c.392C>T (p.Thr131Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159582G>CCA344338736RENc.506C>G (p.Thr169Arg)
c.392C>G (p.Thr131Arg)
1g.204159582G=CA2482057114RENc.506C= (p.Thr169=)
c.392C= (p.Thr131=)
1g.204159582G>TCA344338738RENc.506C>A (p.Thr169Lys)
c.392C>A (p.Thr131Lys)
1g.204159583T>ACA344338743RENc.505A>T (p.Thr169Ser)
c.391A>T (p.Thr131Ser)
1g.204159583T>CCA344338746RENc.505A>G (p.Thr169Ala)
c.391A>G (p.Thr131Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204159583T>GCA344338759RENc.505A>C (p.Thr169Pro)
c.391A>C (p.Thr131Pro)
1g.204159583T=CA2482057115RENc.505A= (p.Thr169=)
c.391A= (p.Thr131=)
1g.204159584G>ACA422837494RENc.504C>T (p.Ile168=)
c.390C>T (p.Ile130=)
 gnomAD v4
1g.204159584G>CCA344338761RENc.504C>G (p.Ile168Met)
c.390C>G (p.Ile130Met)
1g.204159584G=CA1147085712RENc.504C= (p.Ile168=)
c.390C= (p.Ile130=)
1g.204159584G>TCA1344900RENc.504C>A (p.Ile168=)
c.390C>A (p.Ile130=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204159585A>CCA344338765RENc.503T>G (p.Ile168Ser)
c.389T>G (p.Ile130Ser)
1g.204159585A>GCA344338768RENc.503T>C (p.Ile168Thr)
c.389T>C (p.Ile130Thr)
1g.204159585A>TCA344338776RENc.503T>A (p.Ile168Asn)
c.389T>A (p.Ile130Asn)
1g.204159586T>ACA344338778RENc.502A>T (p.Ile168Phe)
c.388A>T (p.Ile130Phe)
1g.204159586T>CCA344338783RENc.502A>G (p.Ile168Val)
c.388A>G (p.Ile130Val)
1g.204159586T>GCA344338785RENc.502A>C (p.Ile168Leu)
c.388A>C (p.Ile130Leu)
1g.204159587T>ACA422837502RENc.501A>T (p.Gly167=)
c.387A>T (p.Gly129=)
1g.204159587T>CCA422837503RENc.501A>G (p.Gly167=)
c.387A>G (p.Gly129=)
1g.204159587T>GCA422837505RENc.501A>C (p.Gly167=)
c.387A>C (p.Gly129=)

Number of alleles fetched