Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31521148T>ACA402132029DSG2n.259T>A
c.428T>A (p.Leu143Ter)
c.259T>A
c.-107T>A (n.-107T>A)
18g.31521148T>CCA402132030DSG2n.259T>C
c.428T>C (p.Leu143Ser)
c.259T>C
c.-107T>C (n.-107T>C)
18g.31521148T>GCA402132031DSG2n.259T>G
c.428T>G (p.Leu143Ter)
c.259T>G
c.-107T>G (n.-107T>G)
18g.31521149A>CCA402132034DSG2n.260A>C
c.429A>C (p.Leu143Phe)
c.260A>C
c.-106A>C (n.-106A>C)
 COSMIC
18g.31521149A>GCA503597210DSG2n.260A>G
c.429A>G (p.Leu143=)
c.260A>G
c.-106A>G (n.-106A>G)
 ClinVar
18g.31521149A>TCA402132036DSG2n.260A>T
c.429A>T (p.Leu143Phe)
c.260A>T
c.-106A>T (n.-106A>T)
18g.31521150G>ACA022095DSG2n.261G>A
c.430G>A (p.Glu144Lys)
c.261G>A
c.-105G>A (n.-105G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521150G>CCA402132039DSG2n.261G>C
c.430G>C (p.Glu144Gln)
c.261G>C
c.-105G>C (n.-105G>C)
18g.31521150G=CA2293855460DSG2n.261G=
c.430G= (p.Glu144=)
c.261G=
c.-105G= (n.-105G=)
18g.31521150G>TCA402132041DSG2n.261G>T
c.430G>T (p.Glu144Ter)
c.261G>T
c.-105G>T (n.-105G>T)
18g.31521151A>CCA402132048DSG2n.262A>C
c.431A>C (p.Glu144Ala)
c.262A>C
c.-104A>C (n.-104A>C)
18g.31521151A>GCA402132043DSG2n.262A>G
c.431A>G (p.Glu144Gly)
c.262A>G
c.-104A>G (n.-104A>G)
18g.31521151A>TCA402132046DSG2n.262A>T
c.431A>T (p.Glu144Val)
c.262A>T
c.-104A>T (n.-104A>T)
18g.31521152G>ACA503597211DSG2n.263G>A
c.432G>A (p.Glu144=)
c.263G>A
c.-103G>A (n.-103G>A)
18g.31521152G>CCA402132051DSG2n.263G>C
c.432G>C (p.Glu144Asp)
c.263G>C
c.-103G>C (n.-103G>C)
18g.31521152G>TCA402132053DSG2n.263G>T
c.432G>T (p.Glu144Asp)
c.263G>T
c.-103G>T (n.-103G>T)
18g.31521153C>ACA402132054DSG2n.264C>A
c.433C>A (p.Leu145Ile)
c.264C>A
c.-102C>A (n.-102C>A)
18g.31521153C>GCA402132056DSG2n.264C>G
c.433C>G (p.Leu145Val)
c.264C>G
c.-102C>G (n.-102C>G)
18g.31521153C>TCA503597212DSG2n.264C>T
c.433C>T (p.Leu145=)
c.264C>T
c.-102C>T (n.-102C>T)
18g.31521154T>ACA402132060DSG2n.265T>A
c.434T>A (p.Leu145Gln)
c.265T>A
c.-101T>A (n.-101T>A)
18g.31521154T>CCA402132063DSG2n.265T>C
c.434T>C (p.Leu145Pro)
c.265T>C
c.-101T>C (n.-101T>C)
18g.31521154T>GCA402132066DSG2n.265T>G
c.434T>G (p.Leu145Arg)
c.265T>G
c.-101T>G (n.-101T>G)
18g.31521155A=CA2293855461DSG2n.266A=
c.435A= (p.Leu145=)
c.266A=
c.-100A= (n.-100A=)
18g.31521155A>CCA503597213DSG2n.266A>C
c.435A>C (p.Leu145=)
c.266A>C
c.-100A>C (n.-100A>C)
18g.31521155A>GCA503597214DSG2n.266A>G
c.435A>G (p.Leu145=)
c.266A>G
c.-100A>G (n.-100A>G)
 ClinVar dbSNP
18g.31521155A>TCA503597215DSG2n.266A>T
c.435A>T (p.Leu145=)
c.266A>T
c.-100A>T (n.-100A>T)
18g.31521156C>ACA402132069DSG2n.267C>A
c.436C>A (p.Arg146Ser)
c.267C>A
c.-99C>A (n.-99C>A)
18g.31521156C=CA2293855462DSG2n.267C=
c.436C= (p.Arg146=)
c.267C=
c.-99C= (n.-99C=)
18g.31521156C>GCA402132071DSG2n.267C>G
c.436C>G (p.Arg146Gly)
c.267C>G
c.-99C>G (n.-99C>G)
18g.31521156C>TCA048732DSG2n.267C>T
c.436C>T (p.Arg146Cys)
c.267C>T
c.-99C>T (n.-99C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31521157G>ACA402132083DSG2n.268G>A
c.437G>A (p.Arg146His)
c.268G>A
c.-98G>A (n.-98G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31521157G>CCA402132080DSG2n.268G>C
c.437G>C (p.Arg146Pro)
c.268G>C
c.-98G>C (n.-98G>C)
 dbSNP
18g.31521157G=CA2293855463DSG2n.268G=
c.437G= (p.Arg146=)
c.268G=
c.-98G= (n.-98G=)
18g.31521157G>TCA022101DSG2n.268G>T
c.437G>T (p.Arg146Leu)
c.268G>T
c.-98G>T (n.-98G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521158C>ACA503597216DSG2n.269C>A
c.438C>A (p.Arg146=)
c.269C>A
c.-97C>A (n.-97C>A)
18g.31521158C>GCA503597219DSG2n.269C>G
c.438C>G (p.Arg146=)
c.269C>G
c.-97C>G (n.-97C>G)
18g.31521158C>TCA503597217DSG2n.269C>T
c.438C>T (p.Arg146=)
c.269C>T
c.-97C>T (n.-97C>T)
18g.31521159A=CA2293855465DSG2n.270A=
c.439A= (p.Ile147=)
c.270A=
c.-96A= (n.-96A=)
18g.31521159A>CCA402132086DSG2n.270A>C
c.439A>C (p.Ile147Leu)
c.270A>C
c.-96A>C (n.-96A>C)
18g.31521159A>GCA402132088DSG2n.270A>G
c.439A>G (p.Ile147Val)
c.270A>G
c.-96A>G (n.-96A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31521159A>TCA402132090DSG2n.270A>T
c.439A>T (p.Ile147Phe)
c.270A>T
c.-96A>T (n.-96A>T)
18g.31521159_31521168delinsATTAAGGTTCCA2293855464DSG2n.270_279delinsATTAAGGTTC
c.439_448delinsATTAAGGTTC (p.Ile147=)
c.270_279delinsATTAAGGTTC
c.-96_-87delinsATTAAGGTTC (n.-96_-87delinsATTAAGGTTC)
18g.31521160T>ACA402132094DSG2n.271T>A
c.440T>A (p.Ile147Asn)
c.271T>A
c.-95T>A (n.-95T>A)
18g.31521160T>CCA402132096DSG2n.271T>C
c.440T>C (p.Ile147Thr)
c.271T>C
c.-95T>C (n.-95T>C)
18g.31521160T>GCA048762DSG2n.271T>G
c.440T>G (p.Ile147Ser)
c.271T>G
c.-95T>G (n.-95T>G)
 dbSNP ExAC gnomAD v2
18g.31521160T=CA2293855467DSG2n.271T=
c.440T= (p.Ile147=)
c.271T=
c.-95T= (n.-95T=)
18g.31521162_31521170delCA2293855466DSG2n.273_281del
c.442_450del (p.Lys148_Leu150del)
c.273_281del
c.-93_-85del (n.-93_-85del)
 ClinVar dbSNP
18g.31521161T>ACA503597223DSG2n.272T>A
c.441T>A (p.Ile147=)
c.272T>A
c.-94T>A (n.-94T>A)
18g.31521161T>CCA503597225DSG2n.272T>C
c.441T>C (p.Ile147=)
c.272T>C
c.-94T>C (n.-94T>C)
18g.31521161T>GCA402132098DSG2n.272T>G
c.441T>G (p.Ile147Met)
c.272T>G
c.-94T>G (n.-94T>G)
18g.31521162A=CA2293855468DSG2n.273A=
c.442A= (p.Lys148=)
c.273A=
c.-93A= (n.-93A=)
18g.31521162A>CCA402132100DSG2n.273A>C
c.442A>C (p.Lys148Gln)
c.273A>C
c.-93A>C (n.-93A>C)
 gnomAD v4
18g.31521162A>GCA402132104DSG2n.273A>G
c.442A>G (p.Lys148Glu)
c.273A>G
c.-93A>G (n.-93A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31521162A>TCA402132107DSG2n.273A>T
c.442A>T (p.Lys148Ter)
c.273A>T
c.-93A>T (n.-93A>T)
18g.31521163A>CCA402132110DSG2n.274A>C
c.443A>C (p.Lys148Thr)
c.274A>C
c.-92A>C (n.-92A>C)
18g.31521163A>GCA402132112DSG2n.274A>G
c.443A>G (p.Lys148Arg)
c.274A>G
c.-92A>G (n.-92A>G)
18g.31521163A>TCA402132116DSG2n.274A>T
c.443A>T (p.Lys148Met)
c.274A>T
c.-92A>T (n.-92A>T)
18g.31521164G>ACA503597234DSG2n.275G>A
c.444G>A (p.Lys148=)
c.275G>A
c.-91G>A (n.-91G>A)
 ClinVar dbSNP
18g.31521164G>CCA297729287DSG2n.275G>C
c.444G>C (p.Lys148Asn)
c.275G>C
c.-91G>C (n.-91G>C)
 ClinVar dbSNP
18g.31521164G=CA2293855469DSG2n.275G=
c.444G= (p.Lys148=)
c.275G=
c.-91G= (n.-91G=)
18g.31521164G>TCA402132122DSG2n.275G>T
c.444G>T (p.Lys148Asn)
c.275G>T
c.-91G>T (n.-91G>T)
18g.31521165G>ACA048772DSG2n.276G>A
c.445G>A (p.Val149Ile)
c.276G>A
c.-90G>A (n.-90G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521165G>CCA402132124DSG2n.276G>C
c.445G>C (p.Val149Leu)
c.276G>C
c.-90G>C (n.-90G>C)
18g.31521165G=CA2293855470DSG2n.276G=
c.445G= (p.Val149=)
c.276G=
c.-90G= (n.-90G=)
18g.31521165G>TCA402132127DSG2n.276G>T
c.445G>T (p.Val149Phe)
c.276G>T
c.-90G>T (n.-90G>T)
 ClinVar dbSNP
18g.31521166T>ACA402132130DSG2n.277T>A
c.446T>A (p.Val149Asp)
c.277T>A
c.-89T>A (n.-89T>A)
18g.31521166T>CCA402132131DSG2n.277T>C
c.446T>C (p.Val149Ala)
c.277T>C
c.-89T>C (n.-89T>C)
 COSMIC
18g.31521166T>GCA402132133DSG2n.277T>G
c.446T>G (p.Val149Gly)
c.277T>G
c.-89T>G (n.-89T>G)
18g.31521167T>ACA503597246DSG2n.278T>A
c.447T>A (p.Val149=)
c.278T>A
c.-88T>A (n.-88T>A)
18g.31521167T>CCA503597242DSG2n.278T>C
c.447T>C (p.Val149=)
c.278T>C
c.-88T>C (n.-88T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31521167T>GCA503597244DSG2n.278T>G
c.447T>G (p.Val149=)
c.278T>G
c.-88T>G (n.-88T>G)
 dbSNP gnomAD v3 gnomAD v4
18g.31521167T=CA2293855471DSG2n.278T=
c.447T= (p.Val149=)
c.278T=
c.-88T= (n.-88T=)
18g.31521168C>ACA402132135DSG2n.279C>A
c.448C>A (p.Leu150Ile)
c.279C>A
c.-87C>A (n.-87C>A)
18g.31521168C>GCA402132139DSG2n.279C>G
c.448C>G (p.Leu150Val)
c.279C>G
c.-87C>G (n.-87C>G)
18g.31521168C>TCA402132143DSG2n.279C>T
c.448C>T (p.Leu150Phe)
c.279C>T
c.-87C>T (n.-87C>T)
 gnomAD v4
18g.31521169T>ACA402132146DSG2n.280T>A
c.449T>A (p.Leu150His)
c.280T>A
c.-86T>A (n.-86T>A)
18g.31521169T>CCA402132147DSG2n.280T>C
c.449T>C (p.Leu150Pro)
c.280T>C
c.-86T>C (n.-86T>C)
18g.31521169T>GCA402132148DSG2n.280T>G
c.449T>G (p.Leu150Arg)
c.280T>G
c.-86T>G (n.-86T>G)
18g.31521169_31521170delCA2580095590DSG2n.280_281del
c.449_450del (p.Leu150ArgfsTer4)
c.280_281del
c.-86_-85del (n.-86_-85del)
 ClinVar
18g.31521170T>ACA503597253DSG2n.281T>A
c.450T>A (p.Leu150=)
c.281T>A
c.-85T>A (n.-85T>A)
18g.31521170T>CCA503597254DSG2n.281T>C
c.450T>C (p.Leu150=)
c.281T>C
c.-85T>C (n.-85T>C)
 gnomAD v4
18g.31521170T>GCA503597256DSG2n.281T>G
c.450T>G (p.Leu150=)
c.281T>G
c.-85T>G (n.-85T>G)
18g.31521171G>ACA402132150DSG2n.282G>A
c.451G>A (p.Asp151Asn)
c.282G>A
c.-84G>A (n.-84G>A)
 ClinVar dbSNP gnomAD v4
18g.31521171G>CCA402132152DSG2n.282G>C
c.451G>C (p.Asp151His)
c.282G>C
c.-84G>C (n.-84G>C)
18g.31521171G=CA2293855472DSG2n.282G=
c.451G= (p.Asp151=)
c.282G=
c.-84G= (n.-84G=)
18g.31521171G>TCA402132149DSG2n.282G>T
c.451G>T (p.Asp151Tyr)
c.282G>T
c.-84G>T (n.-84G>T)
18g.31521172A>CCA402132157DSG2n.283A>C
c.452A>C (p.Asp151Ala)
c.283A>C
c.-83A>C (n.-83A>C)
18g.31521172A>GCA402132154DSG2n.283A>G
c.452A>G (p.Asp151Gly)
c.283A>G
c.-83A>G (n.-83A>G)
18g.31521172A>TCA402132156DSG2n.283A>T
c.452A>T (p.Asp151Val)
c.283A>T
c.-83A>T (n.-83A>T)
18g.31521173T>ACA402132160DSG2n.284T>A
c.453T>A (p.Asp151Glu)
c.284T>A
c.-82T>A (n.-82T>A)
18g.31521173T>CCA503597265DSG2n.284T>C
c.453T>C (p.Asp151=)
c.284T>C
c.-82T>C (n.-82T>C)
 dbSNP gnomAD v2 gnomAD v4
18g.31521173T>GCA402132161DSG2n.284T>G
c.453T>G (p.Asp151Glu)
c.284T>G
c.-82T>G (n.-82T>G)
18g.31521173T=CA2293855473DSG2n.284T=
c.453T= (p.Asp151=)
c.284T=
c.-82T= (n.-82T=)
18g.31521174A>CCA402132164DSG2n.285A>C
c.454A>C (p.Ile152Leu)
c.285A>C
c.-81A>C (n.-81A>C)
18g.31521174A>GCA402132167DSG2n.285A>G
c.454A>G (p.Ile152Val)
c.285A>G
c.-81A>G (n.-81A>G)
18g.31521174A>TCA402132170DSG2n.285A>T
c.454A>T (p.Ile152Phe)
c.285A>T
c.-81A>T (n.-81A>T)
18g.31521175T>ACA402132173DSG2n.286T>A
c.455T>A (p.Ile152Asn)
c.286T>A
c.-80T>A (n.-80T>A)
18g.31521175T>CCA402132176DSG2n.286T>C
c.455T>C (p.Ile152Thr)
c.286T>C
c.-80T>C (n.-80T>C)
 gnomAD v4
18g.31521175T>GCA402132174DSG2n.286T>G
c.455T>G (p.Ile152Ser)
c.286T>G
c.-80T>G (n.-80T>G)
18g.31521176C>ACA503597274DSG2n.287C>A
c.456C>A (p.Ile152=)
c.287C>A
c.-79C>A (n.-79C>A)
18g.31521176C>GCA402132178DSG2n.287C>G
c.456C>G (p.Ile152Met)
c.287C>G
c.-79C>G (n.-79C>G)
18g.31521176C>TCA503597276DSG2n.287C>T
c.456C>T (p.Ile152=)
c.287C>T
c.-79C>T (n.-79C>T)
 ClinVar dbSNP
18g.31521177A>CCA402132180DSG2n.288A>C
c.457A>C (p.Asn153His)
c.288A>C
c.-78A>C (n.-78A>C)
18g.31521177A>GCA402132182DSG2n.288A>G
c.457A>G (p.Asn153Asp)
c.288A>G
c.-78A>G (n.-78A>G)
18g.31521177A>TCA402132184DSG2n.288A>T
c.457A>T (p.Asn153Tyr)
c.288A>T
c.-78A>T (n.-78A>T)
18g.31521178A=CA2293855474DSG2n.289A=
c.458A= (p.Asn153=)
c.289A=
c.-77A= (n.-77A=)
18g.31521178A>CCA402132186DSG2n.289A>C
c.458A>C (p.Asn153Thr)
c.289A>C
c.-77A>C (n.-77A>C)
18g.31521178A>GCA048877DSG2n.289A>G
c.458A>G (p.Asn153Ser)
c.289A>G
c.-77A>G (n.-77A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521178A>TCA402132188DSG2n.289A>T
c.458A>T (p.Asn153Ile)
c.289A>T
c.-77A>T (n.-77A>T)
18g.31521179T>ACA402132191DSG2n.290T>A
c.459T>A (p.Asn153Lys)
c.290T>A
c.-76T>A (n.-76T>A)
18g.31521179T>CCA048896DSG2n.290T>C
c.459T>C (p.Asn153=)
c.290T>C
c.-76T>C (n.-76T>C)
 dbSNP ExAC gnomAD v2
18g.31521179T>GCA402132194DSG2n.290T>G
c.459T>G (p.Asn153Lys)
c.290T>G
c.-76T>G (n.-76T>G)
18g.31521179T=CA2293855475DSG2n.290T=
c.459T= (p.Asn153=)
c.290T=
c.-76T= (n.-76T=)
18g.31521180G>ACA402132196DSG2n.291G>A
c.460G>A (p.Asp154Asn)
c.291G>A
c.-75G>A (n.-75G>A)
18g.31521180G>CCA402132198DSG2n.291G>C
c.460G>C (p.Asp154His)
c.291G>C
c.-75G>C (n.-75G>C)
18g.31521180G>TCA402132199DSG2n.291G>T
c.460G>T (p.Asp154Tyr)
c.291G>T
c.-75G>T (n.-75G>T)
18g.31521181A=CA2293855476DSG2n.292A=
c.461A= (p.Asp154=)
c.292A=
c.-74A= (n.-74A=)
18g.31521181A>CCA402132201DSG2n.292A>C
c.461A>C (p.Asp154Ala)
c.292A>C
c.-74A>C (n.-74A>C)
 ClinVar dbSNP
18g.31521181A>GCA402132203DSG2n.292A>G
c.461A>G (p.Asp154Gly)
c.292A>G
c.-74A>G (n.-74A>G)
 gnomAD v4 COSMIC
18g.31521181A>TCA402132205DSG2n.292A>T
c.461A>T (p.Asp154Val)
c.292A>T
c.-74A>T (n.-74A>T)
18g.31521182C>ACA402132207DSG2n.293C>A
c.462C>A (p.Asp154Glu)
c.293C>A
c.-73C>A (n.-73C>A)
 ClinVar dbSNP gnomAD v4
18g.31521182C=CA2293855477DSG2n.293C=
c.462C= (p.Asp154=)
c.293C=
c.-73C= (n.-73C=)
18g.31521182C>GCA402132208DSG2n.293C>G
c.462C>G (p.Asp154Glu)
c.293C>G
c.-73C>G (n.-73C>G)
 ClinVar
18g.31521182C>TCA503597294DSG2n.293C>T
c.462C>T (p.Asp154=)
c.293C>T
c.-73C>T (n.-73C>T)
 dbSNP
18g.31521183A=CA2293855478DSG2n.294A=
c.463A= (p.Asn155=)
c.294A=
c.-72A= (n.-72A=)
18g.31521183A>CCA402132213DSG2n.294A>C
c.463A>C (p.Asn155His)
c.294A>C
c.-72A>C (n.-72A>C)
 ClinVar dbSNP gnomAD v4
18g.31521183A>GCA048953DSG2n.294A>G
c.463A>G (p.Asn155Asp)
c.294A>G
c.-72A>G (n.-72A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31521183A>TCA402132210DSG2n.294A>T
c.463A>T (p.Asn155Tyr)
c.294A>T
c.-72A>T (n.-72A>T)
 ClinVar
18g.31521183_31521184insTAAATCA2293855479DSG2n.294_295insTAAAT
c.463_464insTAAAT (p.Asn155IlefsTer19)
c.294_295insTAAAT
c.-72_-71insTAAAT (n.-72_-71insTAAAT)
 dbSNP
18g.31521184A=CA2293855480DSG2n.295A=
c.464A= (p.Asn155=)
c.295A=
c.-71A= (n.-71A=)
18g.31521184A>CCA402132215DSG2n.295A>C
c.464A>C (p.Asn155Thr)
c.295A>C
c.-71A>C (n.-71A>C)
18g.31521184A>GCA402132217DSG2n.295A>G
c.464A>G (p.Asn155Ser)
c.295A>G
c.-71A>G (n.-71A>G)
 ClinVar dbSNP gnomAD v4
18g.31521184A>TCA402132219DSG2n.295A>T
c.464A>T (p.Asn155Ile)
c.295A>T
c.-71A>T (n.-71A>T)
18g.31521184_31521185insTCA022113DSG2n.295_296insT
c.464_465insT (p.Glu156ArgfsTer14)
c.295_296insT
c.-71_-70insT (n.-71_-70insT)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31521185C>ACA402132220DSG2n.296C>A
c.465C>A (p.Asn155Lys)
c.296C>A
c.-70C>A (n.-70C>A)
18g.31521185C=CA2293855481DSG2n.296C=
c.465C= (p.Asn155=)
c.296C=
c.-70C= (n.-70C=)
18g.31521185C>GCA402132221DSG2n.296C>G
c.465C>G (p.Asn155Lys)
c.296C>G
c.-70C>G (n.-70C>G)
18g.31521185C>TCA048977DSG2n.296C>T
c.465C>T (p.Asn155=)
c.296C>T
c.-70C>T (n.-70C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521186G>ACA048986DSG2n.297G>A
c.466G>A (p.Glu156Lys)
c.297G>A
c.-69G>A (n.-69G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31521186G>CCA402132225DSG2n.297G>C
c.466G>C (p.Glu156Gln)
c.297G>C
c.-69G>C (n.-69G>C)
18g.31521186G=CA2293855482DSG2n.297G=
c.466G= (p.Glu156=)
c.297G=
c.-69G= (n.-69G=)
18g.31521186G>TCA402132227DSG2n.297G>T
c.466G>T (p.Glu156Ter)
c.297G>T
c.-69G>T (n.-69G>T)
18g.31521187A=CA2293855483DSG2n.298A=
c.467A= (p.Glu156=)
c.298A=
c.-68A= (n.-68A=)
18g.31521187A>CCA402132228DSG2n.298A>C
c.467A>C (p.Glu156Ala)
c.298A>C
c.-68A>C (n.-68A>C)
18g.31521187A>GCA402132229DSG2n.298A>G
c.467A>G (p.Glu156Gly)
c.298A>G
c.-68A>G (n.-68A>G)
18g.31521187A>TCA402132230DSG2n.298A>T
c.467A>T (p.Glu156Val)
c.298A>T
c.-68A>T (n.-68A>T)
 dbSNP gnomAD v3 gnomAD v4
18g.31521188A>CCA402132236DSG2n.299A>C
c.468A>C (p.Glu156Asp)
c.299A>C
c.-67A>C (n.-67A>C)
18g.31521188A>GCA503597312DSG2n.299A>G
c.468A>G (p.Glu156=)
c.299A>G
c.-67A>G (n.-67A>G)
 ClinVar
18g.31521188A>TCA402132234DSG2n.299A>T
c.468A>T (p.Glu156Asp)
c.299A>T
c.-67A>T (n.-67A>T)
18g.31521189C>ACA402132238DSG2n.300C>A
c.469C>A (p.Pro157Thr)
c.300C>A
c.-66C>A (n.-66C>A)
18g.31521189C=CA2293855484DSG2n.300C=
c.469C= (p.Pro157=)
c.300C=
c.-66C= (n.-66C=)
18g.31521189C>GCA402132240DSG2n.300C>G
c.469C>G (p.Pro157Ala)
c.300C>G
c.-66C>G (n.-66C>G)
18g.31521189C>TCA402132242DSG2n.300C>T
c.469C>T (p.Pro157Ser)
c.300C>T
c.-66C>T (n.-66C>T)
 dbSNP gnomAD v2 gnomAD v4
18g.31521190C>ACA402132244DSG2n.301C>A
c.470C>A (p.Pro157Gln)
c.301C>A
c.-65C>A (n.-65C>A)
18g.31521190C=CA2293855485DSG2n.301C=
c.470C= (p.Pro157=)
c.301C=
c.-65C= (n.-65C=)
18g.31521190C>GCA402132249DSG2n.301C>G
c.470C>G (p.Pro157Arg)
c.301C>G
c.-65C>G (n.-65C>G)
18g.31521190C>TCA022118DSG2n.301C>T
c.470C>T (p.Pro157Leu)
c.301C>T
c.-65C>T (n.-65C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521191A>CCA503597322DSG2n.302A>C
c.471A>C (p.Pro157=)
c.302A>C
c.-64A>C (n.-64A>C)
18g.31521191A>GCA503597323DSG2n.302A>G
c.471A>G (p.Pro157=)
c.302A>G
c.-64A>G (n.-64A>G)
 ClinVar
18g.31521191A>TCA503597325DSG2n.302A>T
c.471A>T (p.Pro157=)
c.302A>T
c.-64A>T (n.-64A>T)
18g.31521192G>ACA402132253DSG2n.303G>A
c.472G>A (p.Val158Met)
c.303G>A
c.-63G>A (n.-63G>A)
 ClinVar dbSNP gnomAD v4
18g.31521192G>CCA402132255DSG2n.303G>C
c.472G>C (p.Val158Leu)
c.303G>C
c.-63G>C (n.-63G>C)
18g.31521192G>TCA402132258DSG2n.303G>T
c.472G>T (p.Val158Leu)
c.303G>T
c.-63G>T (n.-63G>T)
 gnomAD v4
18g.31521193T>ACA402132260DSG2n.304T>A
c.473T>A (p.Val158Glu)
c.304T>A
c.-62T>A (n.-62T>A)
 dbSNP
18g.31521193T>CCA402132262DSG2n.304T>C
c.473T>C (p.Val158Ala)
c.304T>C
c.-62T>C (n.-62T>C)
 dbSNP gnomAD v2 gnomAD v4
18g.31521193T>GCA022124DSG2n.304T>G
c.473T>G (p.Val158Gly)
c.304T>G
c.-62T>G (n.-62T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521193T=CA2293855486DSG2n.304T=
c.473T= (p.Val158=)
c.304T=
c.-62T= (n.-62T=)
18g.31521194G>ACA022129DSG2n.305G>A
c.474G>A (p.Val158=)
c.305G>A
c.-61G>A (n.-61G>A)
 ClinVar dbSNP
18g.31521194G>CCA503597331DSG2n.305G>C
c.474G>C (p.Val158=)
c.305G>C
c.-61G>C (n.-61G>C)
18g.31521194G=CA2293855487DSG2n.305G=
c.474G= (p.Val158=)
c.305G=
c.-61G= (n.-61G=)
18g.31521194G>TCA503597334DSG2n.305G>T
c.474G>T (p.Val158=)
c.305G>T
c.-61G>T (n.-61G>T)
 gnomAD v4
18g.31521195T>ACA402132277DSG2n.306T>A
c.475T>A (p.Phe159Ile)
c.306T>A
c.-60T>A (n.-60T>A)
18g.31521195T>CCA402132274DSG2n.306T>C
c.475T>C (p.Phe159Leu)
c.306T>C
c.-60T>C (n.-60T>C)
18g.31521195T>GCA402132271DSG2n.306T>G
c.475T>G (p.Phe159Val)
c.306T>G
c.-60T>G (n.-60T>G)
18g.31521196T>ACA402132279DSG2n.307T>A
c.476T>A (p.Phe159Tyr)
c.307T>A
c.-59T>A (n.-59T>A)
18g.31521196T>CCA402132285DSG2n.307T>C
c.476T>C (p.Phe159Ser)
c.307T>C
c.-59T>C (n.-59T>C)
18g.31521196T>GCA402132282DSG2n.307T>G
c.476T>G (p.Phe159Cys)
c.307T>G
c.-59T>G (n.-59T>G)
18g.31521197C>ACA402132287DSG2n.308C>A
c.477C>A (p.Phe159Leu)
c.308C>A
c.-58C>A (n.-58C>A)
18g.31521197C>GCA402132289DSG2n.308C>G
c.477C>G (p.Phe159Leu)
c.308C>G
c.-58C>G (n.-58C>G)
18g.31521197C>TCA503597343DSG2n.308C>T
c.477C>T (p.Phe159=)
c.308C>T
c.-58C>T (n.-58C>T)
18g.31521198A=CA2293855488DSG2n.309A=
c.478A= (p.Thr160=)
c.309A=
c.-57A= (n.-57A=)
18g.31521198A>CCA402132293DSG2n.309A>C
c.478A>C (p.Thr160Pro)
c.309A>C
c.-57A>C (n.-57A>C)
18g.31521198A>GCA402132295DSG2n.309A>G
c.478A>G (p.Thr160Ala)
c.309A>G
c.-57A>G (n.-57A>G)
 ClinVar dbSNP gnomAD v4
18g.31521198A>TCA402132297DSG2n.309A>T
c.478A>T (p.Thr160Ser)
c.309A>T
c.-57A>T (n.-57A>T)
 gnomAD v4
18g.31521199C>ACA402132299DSG2n.310C>A
c.479C>A (p.Thr160Lys)
c.310C>A
c.-56C>A (n.-56C>A)
18g.31521199C>GCA402132301DSG2n.310C>G
c.479C>G (p.Thr160Arg)
c.310C>G
c.-56C>G (n.-56C>G)
18g.31521199C>TCA402132303DSG2n.310C>T
c.479C>T (p.Thr160Ile)
c.310C>T
c.-56C>T (n.-56C>T)
 gnomAD v4
18g.31521200A>CCA503597351DSG2n.311A>C
c.480A>C (p.Thr160=)
c.311A>C
c.-55A>C (n.-55A>C)
 ClinVar gnomAD v4
18g.31521200A>GCA503597352DSG2n.311A>G
c.480A>G (p.Thr160=)
c.311A>G
c.-55A>G (n.-55A>G)
18g.31521200A>TCA503597354DSG2n.311A>T
c.480A>T (p.Thr160=)
c.311A>T
c.-55A>T (n.-55A>T)
18g.31521201C>ACA402132305DSG2n.312C>A
c.481C>A (p.Gln161Lys)
c.312C>A
c.-54C>A (n.-54C>A)
18g.31521201C>GCA402132308DSG2n.312C>G
c.481C>G (p.Gln161Glu)
c.312C>G
c.-54C>G (n.-54C>G)
18g.31521201C>TCA402132312DSG2n.312C>T
c.481C>T (p.Gln161Ter)
c.312C>T
c.-54C>T (n.-54C>T)
18g.31521202A>CCA402132313DSG2n.313A>C
c.482A>C (p.Gln161Pro)
c.313A>C
c.-53A>C (n.-53A>C)
18g.31521202A>GCA402132314DSG2n.313A>G
c.482A>G (p.Gln161Arg)
c.313A>G
c.-53A>G (n.-53A>G)
 gnomAD v4
18g.31521202A>TCA402132321DSG2n.313A>T
c.482A>T (p.Gln161Leu)
c.313A>T
c.-53A>T (n.-53A>T)
18g.31521202_31521203delinsAGCA2293855489DSG2n.313_314delinsAG
c.482_483delinsAG (p.Gln161=)
c.313_314delinsAG
c.-53_-52delinsAG (n.-53_-52delinsAG)
18g.31521203G>ACA503597361DSG2n.314G>A
c.483G>A (p.Gln161=)
c.314G>A
c.-52G>A (n.-52G>A)
 gnomAD v4
18g.31521203G>CCA402132326DSG2n.314G>C
c.483G>C (p.Gln161His)
c.314G>C
c.-52G>C (n.-52G>C)
18g.31521203G>TCA402132324DSG2n.314G>T
c.483G>T (p.Gln161His)
c.314G>T
c.-52G>T (n.-52G>T)
18g.31521204delCA913188915DSG2n.315del
c.484del (p.Asp162MetfsTer10)
c.315del
c.-51del (n.-51del)
 ClinVar dbSNP gnomAD v4
18g.31521204G>ACA402132328DSG2n.315G>A
c.484G>A (p.Asp162Asn)
c.315G>A
c.-51G>A (n.-51G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
18g.31521204G>CCA402132331DSG2n.315G>C
c.484G>C (p.Asp162His)
c.315G>C
c.-51G>C (n.-51G>C)
18g.31521204G=CA2293855490DSG2n.315G=
c.484G= (p.Asp162=)
c.315G=
c.-51G= (n.-51G=)
18g.31521204G>TCA297729306DSG2n.315G>T
c.484G>T (p.Asp162Tyr)
c.315G>T
c.-51G>T (n.-51G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31521205delCA2641412741DSG2n.316del
c.485del (p.Asp162ValfsTer10)
c.316del
c.-50del (n.-50del)
 gnomAD v4
18g.31521205A>CCA402132335DSG2n.316A>C
c.485A>C (p.Asp162Ala)
c.316A>C
c.-50A>C (n.-50A>C)
18g.31521205A>GCA402132338DSG2n.316A>G
c.485A>G (p.Asp162Gly)
c.316A>G
c.-50A>G (n.-50A>G)
18g.31521205A>TCA402132340DSG2n.316A>T
c.485A>T (p.Asp162Val)
c.316A>T
c.-50A>T (n.-50A>T)
 gnomAD v4
18g.31521206T>ACA049037DSG2n.317T>A
c.486T>A (p.Asp162Glu)
c.317T>A
c.-49T>A (n.-49T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521206T>CCA503597373DSG2n.317T>C
c.486T>C (p.Asp162=)
c.317T>C
c.-49T>C (n.-49T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31521206T>GCA402132344DSG2n.317T>G
c.486T>G (p.Asp162Glu)
c.317T>G
c.-49T>G (n.-49T>G)
18g.31521206T=CA2293855491DSG2n.317T=
c.486T= (p.Asp162=)
c.317T=
c.-49T= (n.-49T=)
18g.31521207G>ACA297729307DSG2n.318G>A
c.487G>A (p.Val163Ile)
c.318G>A
c.-48G>A (n.-48G>A)
 dbSNP gnomAD v4
18g.31521207G>CCA402132349DSG2n.318G>C
c.487G>C (p.Val163Leu)
c.318G>C
c.-48G>C (n.-48G>C)
18g.31521207G=CA2293855492DSG2n.318G=
c.487G= (p.Val163=)
c.318G=
c.-48G= (n.-48G=)
18g.31521207G>TCA402132353DSG2n.318G>T
c.487G>T (p.Val163Phe)
c.318G>T
c.-48G>T (n.-48G>T)
18g.31521208T>ACA402132359DSG2n.319T>A
c.488T>A (p.Val163Asp)
c.319T>A
c.-47T>A (n.-47T>A)
18g.31521208T>CCA402132357DSG2n.319T>C
c.488T>C (p.Val163Ala)
c.319T>C
c.-47T>C (n.-47T>C)
 ClinVar gnomAD v4
18g.31521208T>GCA402132356DSG2n.319T>G
c.488T>G (p.Val163Gly)
c.319T>G
c.-47T>G (n.-47T>G)
18g.31521209C>ACA503597381DSG2n.320C>A
c.489C>A (p.Val163=)
c.320C>A
c.-46C>A (n.-46C>A)
18g.31521209C>GCA503597383DSG2n.320C>G
c.489C>G (p.Val163=)
c.320C>G
c.-46C>G (n.-46C>G)
18g.31521209C>TCA503597385DSG2n.320C>T
c.489C>T (p.Val163=)
c.320C>T
c.-46C>T (n.-46C>T)
18g.31521210T>ACA402132362DSG2n.321T>A
c.490T>A (p.Phe164Ile)
c.321T>A
c.-45T>A (n.-45T>A)
18g.31521210T>CCA402132364DSG2n.321T>C
c.490T>C (p.Phe164Leu)
c.321T>C
c.-45T>C (n.-45T>C)
18g.31521210T>GCA402132367DSG2n.321T>G
c.490T>G (p.Phe164Val)
c.321T>G
c.-45T>G (n.-45T>G)
18g.31521211T>ACA402132371DSG2n.322T>A
c.491T>A (p.Phe164Tyr)
c.322T>A
c.-44T>A (n.-44T>A)
18g.31521211T>CCA402132373DSG2n.322T>C
c.491T>C (p.Phe164Ser)
c.322T>C
c.-44T>C (n.-44T>C)
18g.31521211T>GCA402132376DSG2n.322T>G
c.491T>G (p.Phe164Cys)
c.322T>G
c.-44T>G (n.-44T>G)
18g.31521212T>ACA402132378DSG2n.323T>A
c.492T>A (p.Phe164Leu)
c.323T>A
c.-43T>A (n.-43T>A)
18g.31521212T>CCA503597393DSG2n.323T>C
c.492T>C (p.Phe164=)
c.323T>C
c.-43T>C (n.-43T>C)
18g.31521212T>GCA402132380DSG2n.323T>G
c.492T>G (p.Phe164Leu)
c.323T>G
c.-43T>G (n.-43T>G)
18g.31521213G>ACA402132382DSG2n.324G>A
c.493G>A (p.Val165Ile)
c.324G>A
c.-42G>A (n.-42G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31521213G>CCA402132383DSG2n.324G>C
c.493G>C (p.Val165Leu)
c.324G>C
c.-42G>C (n.-42G>C)
18g.31521213G=CA2293855493DSG2n.324G=
c.493G= (p.Val165=)
c.324G=
c.-42G= (n.-42G=)
18g.31521213G>TCA049062DSG2n.324G>T
c.493G>T (p.Val165Phe)
c.324G>T
c.-42G>T (n.-42G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31521214T>ACA402132390DSG2n.325T>A
c.494T>A (p.Val165Asp)
c.325T>A
c.-41T>A (n.-41T>A)
 gnomAD v4
18g.31521214T>CCA297729354DSG2n.325T>C
c.494T>C (p.Val165Ala)
c.325T>C
c.-41T>C (n.-41T>C)
 ClinVar dbSNP gnomAD v4
18g.31521214T>GCA402132388DSG2n.325T>G
c.494T>G (p.Val165Gly)
c.325T>G
c.-41T>G (n.-41T>G)
18g.31521214T=CA2293855494DSG2n.325T=
c.494T= (p.Val165=)
c.325T=
c.-41T= (n.-41T=)
18g.31521215dupCA8928333DSG2n.326dup
c.495dup (p.Gly166TrpfsTer4)
c.326dup
c.-40dup (n.-40dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521215T>ACA503597403DSG2n.326T>A
c.495T>A (p.Val165=)
c.326T>A
c.-40T>A (n.-40T>A)
18g.31521215T>CCA503597405DSG2n.326T>C
c.495T>C (p.Val165=)
c.326T>C
c.-40T>C (n.-40T>C)
18g.31521215T>GCA503597402DSG2n.326T>G
c.495T>G (p.Val165=)
c.326T>G
c.-40T>G (n.-40T>G)
18g.31521216G>ACA402132396DSG2n.327G>A
c.496G>A (p.Gly166Arg)
c.327G>A
c.-39G>A (n.-39G>A)
18g.31521216G>CCA402132399DSG2n.327G>C
c.496G>C (p.Gly166Arg)
c.327G>C
c.-39G>C (n.-39G>C)
 ClinVar dbSNP
18g.31521216G=CA2293855495DSG2n.327G=
c.496G= (p.Gly166=)
c.327G=
c.-39G= (n.-39G=)
18g.31521216G>TCA402132401DSG2n.327G>T
c.496G>T (p.Gly166Trp)
c.327G>T
c.-39G>T (n.-39G>T)
18g.31521218delCA2697555384DSG2n.329del
c.498del (p.Ser167LeufsTer5)
c.329del
c.-37del (n.-37del)
 ClinVar
18g.31521217G>ACA402132404DSG2n.328G>A
c.497G>A (p.Gly166Glu)
c.328G>A
c.-38G>A (n.-38G>A)
18g.31521217G>CCA402132406DSG2n.328G>C
c.497G>C (p.Gly166Ala)
c.328G>C
c.-38G>C (n.-38G>C)
18g.31521217G>TCA402132408DSG2n.328G>T
c.497G>T (p.Gly166Val)
c.328G>T
c.-38G>T (n.-38G>T)
18g.31521218G>ACA503597412DSG2n.329G>A
c.498G>A (p.Gly166=)
c.329G>A
c.-37G>A (n.-37G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31521218G>CCA503597413DSG2n.329G>C
c.498G>C (p.Gly166=)
c.329G>C
c.-37G>C (n.-37G>C)
18g.31521218G=CA2293855496DSG2n.329G=
c.498G= (p.Gly166=)
c.329G=
c.-37G= (n.-37G=)
18g.31521218G>TCA503597415DSG2n.329G>T
c.498G>T (p.Gly166=)
c.329G>T
c.-37G>T (n.-37G>T)
18g.31521219T>ACA402132413DSG2n.330T>A
c.499T>A (p.Ser167Thr)
c.330T>A
c.-36T>A (n.-36T>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.31521219T>CCA402132416DSG2n.330T>C
c.499T>C (p.Ser167Pro)
c.330T>C
c.-36T>C (n.-36T>C)
18g.31521219T>GCA402132418DSG2n.330T>G
c.499T>G (p.Ser167Ala)
c.330T>G
c.-36T>G (n.-36T>G)
18g.31521219T=CA2293855497DSG2n.330T=
c.499T= (p.Ser167=)
c.330T=
c.-36T= (n.-36T=)
18g.31521220C>ACA402132422DSG2n.331C>A
c.500C>A (p.Ser167Tyr)
c.331C>A
c.-35C>A (n.-35C>A)
18g.31521220C>GCA402132424DSG2n.331C>G
c.500C>G (p.Ser167Cys)
c.331C>G
c.-35C>G (n.-35C>G)
 ClinVar gnomAD v4
18g.31521220C>TCA402132427DSG2n.331C>T
c.500C>T (p.Ser167Phe)
c.331C>T
c.-35C>T (n.-35C>T)
18g.31521221T>ACA503597421DSG2n.332T>A
c.501T>A (p.Ser167=)
c.332T>A
c.-34T>A (n.-34T>A)
18g.31521221T>CCA503597423DSG2n.332T>C
c.501T>C (p.Ser167=)
c.332T>C
c.-34T>C (n.-34T>C)
 ClinVar dbSNP
18g.31521221T>GCA503597425DSG2n.332T>G
c.501T>G (p.Ser167=)
c.332T>G
c.-34T>G (n.-34T>G)
18g.31521222G>ACA402132434DSG2n.333G>A
c.502G>A (p.Val168Ile)
c.333G>A
c.-33G>A (n.-33G>A)
18g.31521222G>CCA402132437DSG2n.333G>C
c.502G>C (p.Val168Leu)
c.333G>C
c.-33G>C (n.-33G>C)
 gnomAD v4
18g.31521222G>TCA402132432DSG2n.333G>T
c.502G>T (p.Val168Phe)
c.333G>T
c.-33G>T (n.-33G>T)
18g.31521223T>ACA402132441DSG2n.334T>A
c.503T>A (p.Val168Asp)
c.334T>A
c.-32T>A (n.-32T>A)
18g.31521223T>CCA402132443DSG2n.334T>C
c.503T>C (p.Val168Ala)
c.334T>C
c.-32T>C (n.-32T>C)
18g.31521223T>GCA402132445DSG2n.334T>G
c.503T>G (p.Val168Gly)
c.334T>G
c.-32T>G (n.-32T>G)
18g.31521224T>ACA503597431DSG2n.335T>A
c.504T>A (p.Val168=)
c.335T>A
c.-31T>A (n.-31T>A)
18g.31521224T>CCA049068DSG2n.335T>C
c.504T>C (p.Val168=)
c.335T>C
c.-31T>C (n.-31T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31521224T>GCA503597434DSG2n.335T>G
c.504T>G (p.Val168=)
c.335T>G
c.-31T>G (n.-31T>G)
18g.31521224T=CA2293855498DSG2n.335T=
c.504T= (p.Val168=)
c.335T=
c.-31T= (n.-31T=)
18g.31521225G>ACA402132451DSG2n.336G>A
c.505G>A (p.Glu169Lys)
c.336G>A
c.-30G>A (n.-30G>A)
 ClinVar
18g.31521225G>CCA402132454DSG2n.336G>C
c.505G>C (p.Glu169Gln)
c.336G>C
c.-30G>C (n.-30G>C)
18g.31521225G>TCA402132456DSG2n.336G>T
c.505G>T (p.Glu169Ter)
c.336G>T
c.-30G>T (n.-30G>T)
 ClinVar
18g.31521227_31521229delCA2697555385DSG2n.338_340del
c.507_509del (p.Glu170del)
c.338_340del
c.-28_-26del (n.-28_-26del)
 ClinVar
18g.31521226A>CCA402132460DSG2n.337A>C
c.506A>C (p.Glu169Ala)
c.337A>C
c.-29A>C (n.-29A>C)
18g.31521226A>GCA402132466DSG2n.337A>G
c.506A>G (p.Glu169Gly)
c.337A>G
c.-29A>G (n.-29A>G)
18g.31521226A>TCA402132463DSG2n.337A>T
c.506A>T (p.Glu169Val)
c.337A>T
c.-29A>T (n.-29A>T)
18g.31521227A>CCA402132470DSG2n.338A>C
c.507A>C (p.Glu169Asp)
c.338A>C
c.-28A>C (n.-28A>C)
18g.31521227A>GCA503597441DSG2n.338A>G
c.507A>G (p.Glu169=)
c.338A>G
c.-28A>G (n.-28A>G)
18g.31521227A>TCA402132473DSG2n.338A>T
c.507A>T (p.Glu169Asp)
c.338A>T
c.-28A>T (n.-28A>T)
18g.31521227_31521232delinsAGAGTTCA2293855499DSG2n.338_343delinsAGAGTT
c.507_512delinsAGAGTT (p.Glu169=)
c.338_343delinsAGAGTT
c.-28_-23delinsAGAGTT (n.-28_-23delinsAGAGTT)
18g.31521228G>ACA402132477DSG2n.339G>A
c.508G>A (p.Glu170Lys)
c.339G>A
c.-27G>A (n.-27G>A)
 ClinVar dbSNP
18g.31521228G>CCA402132480DSG2n.339G>C
c.508G>C (p.Glu170Gln)
c.339G>C
c.-27G>C (n.-27G>C)
18g.31521228G>TCA402132482DSG2n.339G>T
c.508G>T (p.Glu170Ter)
c.339G>T
c.-27G>T (n.-27G>T)
18g.31521232_31521236delCA891844302DSG2n.343_347del
c.512_516del (p.Leu171CysfsTer16)
c.343_347del
c.-23_-19del (n.-23_-19del)
 ClinVar dbSNP
18g.31521229A>CCA402132483DSG2n.340A>C
c.509A>C (p.Glu170Ala)
c.340A>C
c.-26A>C (n.-26A>C)
18g.31521229A>GCA402132486DSG2n.340A>G
c.509A>G (p.Glu170Gly)
c.340A>G
c.-26A>G (n.-26A>G)
 gnomAD v4
18g.31521229A>TCA402132484DSG2n.340A>T
c.509A>T (p.Glu170Val)
c.340A>T
c.-26A>T (n.-26A>T)
18g.31521230G>ACA503597450DSG2n.341G>A
c.510G>A (p.Glu170=)
c.341G>A
c.-25G>A (n.-25G>A)
 gnomAD v4
18g.31521230G>CCA402132487DSG2n.341G>C
c.510G>C (p.Glu170Asp)
c.341G>C
c.-25G>C (n.-25G>C)
18g.31521230G>TCA402132488DSG2n.341G>T
c.510G>T (p.Glu170Asp)
c.341G>T
c.-25G>T (n.-25G>T)
18g.31521231T>ACA402132492DSG2n.342T>A
c.511T>A (p.Leu171Met)
c.342T>A
c.-24T>A (n.-24T>A)
18g.31521231T>CCA503597453DSG2n.342T>C
c.511T>C (p.Leu171=)
c.342T>C
c.-24T>C (n.-24T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31521231T>GCA402132493DSG2n.342T>G
c.511T>G (p.Leu171Val)
c.342T>G
c.-24T>G (n.-24T>G)
18g.31521231T=CA2293855500DSG2n.342T=
c.511T= (p.Leu171=)
c.342T=
c.-24T= (n.-24T=)
18g.31521232T>ACA402132497DSG2n.343T>A
c.512T>A (p.Leu171Ter)
c.343T>A
c.-23T>A (n.-23T>A)
18g.31521232T>CCA402132499DSG2n.343T>C
c.512T>C (p.Leu171Ser)
c.343T>C
c.-23T>C (n.-23T>C)
18g.31521232T>GCA402132502DSG2n.343T>G
c.512T>G (p.Leu171Trp)
c.343T>G
c.-23T>G (n.-23T>G)
18g.31521232_31521237delCA2695227355DSG2n.343_348del
c.512_517del (p.Leu171_Ala173delinsSer)
c.343_348del
c.-23_-18del (n.-23_-18del)
18g.31521233G>ACA503597461DSG2n.344G>A
c.513G>A (p.Leu171=)
c.344G>A
c.-22G>A (n.-22G>A)
18g.31521233G>CCA402132503DSG2n.344G>C
c.513G>C (p.Leu171Phe)
c.344G>C
c.-22G>C (n.-22G>C)
 dbSNP
18g.31521233G=CA2293855501DSG2n.344G=
c.513G= (p.Leu171=)
c.344G=
c.-22G= (n.-22G=)
18g.31521233G>TCA049080DSG2n.344G>T
c.513G>T (p.Leu171Phe)
c.344G>T
c.-22G>T (n.-22G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521234A>CCA402132509DSG2n.345A>C
c.514A>C (p.Ser172Arg)
c.345A>C
c.-21A>C (n.-21A>C)
18g.31521234A>GCA402132511DSG2n.345A>G
c.514A>G (p.Ser172Gly)
c.345A>G
c.-21A>G (n.-21A>G)
18g.31521234A>TCA402132513DSG2n.345A>T
c.514A>T (p.Ser172Cys)
c.345A>T
c.-21A>T (n.-21A>T)
18g.31521235G>ACA402132518DSG2n.346G>A
c.515G>A (p.Ser172Asn)
c.346G>A
c.-20G>A (n.-20G>A)
 gnomAD v4
18g.31521235G>CCA402132522DSG2n.346G>C
c.515G>C (p.Ser172Thr)
c.346G>C
c.-20G>C (n.-20G>C)
 gnomAD v4
18g.31521235G>TCA402132520DSG2n.346G>T
c.515G>T (p.Ser172Ile)
c.346G>T
c.-20G>T (n.-20G>T)
 ClinVar
18g.31521236T>ACA402132525DSG2n.347T>A
c.516T>A (p.Ser172Arg)
c.347T>A
c.-19T>A (n.-19T>A)
18g.31521236T>CCA503597471DSG2n.347T>C
c.516T>C (p.Ser172=)
c.347T>C
c.-19T>C (n.-19T>C)
 gnomAD v4 COSMIC
18g.31521236T>GCA402132528DSG2n.347T>G
c.516T>G (p.Ser172Arg)
c.347T>G
c.-19T>G (n.-19T>G)
18g.31521237G>ACA402132529DSG2n.348G>A
c.517G>A (p.Ala173Thr)
c.348G>A
c.-18G>A (n.-18G>A)
 gnomAD v4
18g.31521237G>CCA402132530DSG2n.348G>C
c.517G>C (p.Ala173Pro)
c.348G>C
c.-18G>C (n.-18G>C)
18g.31521237G>TCA402132533DSG2n.348G>T
c.517G>T (p.Ala173Ser)
c.348G>T
c.-18G>T (n.-18G>T)
18g.31521238C>ACA402132536DSG2n.349C>A
c.518C>A (p.Ala173Glu)
c.349C>A
c.-17C>A (n.-17C>A)
18g.31521238C>GCA402132538DSG2n.349C>G
c.518C>G (p.Ala173Gly)
c.349C>G
c.-17C>G (n.-17C>G)
18g.31521238C>TCA402132540DSG2n.349C>T
c.518C>T (p.Ala173Val)
c.349C>T
c.-17C>T (n.-17C>T)
 gnomAD v4
18g.31521239A=CA2293855502DSG2n.350A=
c.519A= (p.Ala173=)
c.350A=
c.-16A= (n.-16A=)
18g.31521239A>CCA503597479DSG2n.350A>C
c.519A>C (p.Ala173=)
c.350A>C
c.-16A>C (n.-16A>C)
18g.31521239A>GCA049091DSG2n.350A>G
c.519A>G (p.Ala173=)
c.350A>G
c.-16A>G (n.-16A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31521239A>TCA503597482DSG2n.350A>T
c.519A>T (p.Ala173=)
c.350A>T
c.-16A>T (n.-16A>T)
18g.31521240G>ACA402132553DSG2n.351G>A
c.520G>A (p.Ala174Thr)
c.351G>A
c.-15G>A (n.-15G>A)
18g.31521240G>CCA402132555DSG2n.351G>C
c.520G>C (p.Ala174Pro)
c.351G>C
c.-15G>C (n.-15G>C)
18g.31521240G=CA2293855503DSG2n.351G=
c.520G= (p.Ala174=)
c.351G=
c.-15G= (n.-15G=)
18g.31521240G>TCA402132558DSG2n.351G>T
c.520G>T (p.Ala174Ser)
c.351G>T
c.-15G>T (n.-15G>T)
 ClinVar dbSNP gnomAD v4
18g.31521241C>ACA402132565DSG2n.352C>A
c.521C>A (p.Ala174Glu)
c.352C>A
c.-14C>A (n.-14C>A)
18g.31521241C>GCA402132563DSG2n.352C>G
c.521C>G (p.Ala174Gly)
c.352C>G
c.-14C>G (n.-14C>G)
18g.31521241C>TCA402132561DSG2n.352C>T
c.521C>T (p.Ala174Val)
c.352C>T
c.-14C>T (n.-14C>T)
18g.31521242A=CA2293855504DSG2n.353A=
c.522A= (p.Ala174=)
c.353A=
c.-13A= (n.-13A=)
18g.31521242A>CCA503597490DSG2n.353A>C
c.522A>C (p.Ala174=)
c.353A>C
c.-13A>C (n.-13A>C)
18g.31521242A>GCA503597492DSG2n.353A>G
c.522A>G (p.Ala174=)
c.353A>G
c.-13A>G (n.-13A>G)
 dbSNP gnomAD v3 gnomAD v4
18g.31521242A>TCA503597494DSG2n.353A>T
c.522A>T (p.Ala174=)
c.353A>T
c.-13A>T (n.-13A>T)
18g.31521243C>ACA402132567DSG2n.354C>A
c.523C>A (p.His175Asn)
c.354C>A
c.-12C>A (n.-12C>A)
 gnomAD v3 gnomAD v4
18g.31521243C=CA2293855506DSG2n.354C=
c.523C= (p.His175=)
c.354C=
c.-12C= (n.-12C=)
18g.31521243C>GCA297729387DSG2n.354C>G
c.523C>G (p.His175Asp)
c.354C>G
c.-12C>G (n.-12C>G)
 dbSNP gnomAD v4
18g.31521243C>TCA049288DSG2n.354C>T
c.523C>T (p.His175Tyr)
c.354C>T
c.-12C>T (n.-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.31521243_31521245delinsCGTCA2293855505DSG2n.354_354+2delinsCGT
c.523_523+2delinsCGT
c.354_354+2delinsCGT
n.354_356delinsCGT
c.-12_-12+2delinsCGT
18g.31521244G>ACA022136DSG2n.354+1G>A
c.523+1G>A (n.523+1G>A)
c.354+1G>A
n.355G>A
c.-12+1G>A (n.-12+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31521244G>CCA022140DSG2n.354+1G>C
c.523+1G>C (n.523+1G>C)
c.354+1G>C
n.355G>C
c.-12+1G>C (n.-12+1G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31521244G=CA2293855507DSG2n.354+1G=
c.523+1G= (n.523+1G=)
c.354+1G=
n.355G=
c.-12+1G= (n.-12+1G=)
18g.31521244G>TCA049167DSG2n.354+1G>T
c.523+1G>T (n.523+1G>T)
c.354+1G>T
n.355G>T
c.-12+1G>T (n.-12+1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31521244_31521245delCA915952484DSG2n.354+1_354+2del
c.523+1_523+2del (n.523+1_523+2del)
c.354+1_354+2del
n.355_356del
c.-12+1_-12+2del (n.-12+1_-12+2del)
 ClinVar dbSNP
18g.31521245T>ACA402132577DSG2n.354+2T>A
c.523+2T>A (n.523+2T>A)
c.354+2T>A
n.356T>A
c.-12+2T>A (n.-12+2T>A)
18g.31521245T>CCA022165DSG2n.354+2T>C
c.523+2T>C (n.523+2T>C)
c.354+2T>C
n.356T>C
c.-12+2T>C (n.-12+2T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31521245T>GCA402132578DSG2n.354+2T>G
c.523+2T>G (n.523+2T>G)
c.354+2T>G
n.356T>G
c.-12+2T>G (n.-12+2T>G)
18g.31521245T=CA2293855508DSG2n.354+2T=
c.523+2T= (n.523+2T=)
c.354+2T=
n.356T=
c.-12+2T= (n.-12+2T=)
18g.31521245dupCA913188918DSG2n.354+2dup
c.523+2dup (n.523+2dup)
c.354+2dup
n.356dup
c.-12+2dup (n.-12+2dup)
 ClinVar dbSNP gnomAD v4
18g.31521246A>GCA2573054644DSG2n.354+3A>G
c.523+3A>G (n.523+3A>G)
c.354+3A>G
n.357A>G
c.-12+3A>G (n.-12+3A>G)
 ClinVar dbSNP
18g.31521247A=CA2293855509DSG2n.354+4A=
c.523+4A= (n.523+4A=)
c.354+4A=
n.358A=
c.-12+4A= (n.-12+4A=)
18g.31521247A>GCA778436016DSG2n.354+4A>G
c.523+4A>G (n.523+4A>G)
c.354+4A>G
n.358A>G
c.-12+4A>G (n.-12+4A>G)
 ClinVar dbSNP gnomAD v4
18g.31521247A>TCA049245DSG2n.354+4A>T
c.523+4A>T (n.523+4A>T)
c.354+4A>T
n.358A>T
c.-12+4A>T (n.-12+4A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31521248G>TCA2641412742DSG2n.354+5G>T
c.523+5G>T (n.523+5G>T)
c.354+5G>T
n.359G>T
c.-12+5G>T (n.-12+5G>T)
 gnomAD v4

Number of alleles fetched