Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31089362T>GCA2641388894DSC2c.201+77A>C (n.201+77A>C)
c.630+77A>C (n.630+77A>C)
 gnomAD v4
18g.31089363T>CCA2293654889DSC2c.201+76A>G (n.201+76A>G)
c.630+76A>G (n.630+76A>G)
 dbSNP
18g.31089363T=CA2293654888DSC2c.201+76A= (n.201+76A=)
c.630+76A= (n.630+76A=)
18g.31089364A=CA2293654890DSC2c.201+75T= (n.201+75T=)
c.630+75T= (n.630+75T=)
18g.31089364A>TCA2293654891DSC2c.201+75T>A (n.201+75T>A)
c.630+75T>A (n.630+75T>A)
 dbSNP gnomAD v4
18g.31089365C>ACA2734702378DSC2c.201+74G>T (n.201+74G>T)
c.630+74G>T (n.630+74G>T)
 dbSNP
18g.31089365C=CA2293654892DSC2c.201+74G= (n.201+74G=)
c.630+74G= (n.630+74G=)
18g.31089365C>GCA2641388898DSC2c.201+74G>C (n.201+74G>C)
c.630+74G>C (n.630+74G>C)
 gnomAD v4
18g.31089365C>TCA297641702DSC2c.201+74G>A (n.201+74G>A)
c.630+74G>A (n.630+74G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.31089366G>ACA297641713DSC2c.201+73C>T (n.201+73C>T)
c.630+73C>T (n.630+73C>T)
 dbSNP gnomAD v3 gnomAD v4
18g.31089366G=CA2293654893DSC2c.201+73C= (n.201+73C=)
c.630+73C= (n.630+73C=)
18g.31089366G>TCA2641388901DSC2c.201+73C>A (n.201+73C>A)
c.630+73C>A (n.630+73C>A)
 gnomAD v4
18g.31089371T>CCA2293654894DSC2c.201+68A>G (n.201+68A>G)
c.630+68A>G (n.630+68A>G)
 dbSNP gnomAD v3 gnomAD v4
18g.31089371T=CA2293654895DSC2c.201+68A= (n.201+68A=)
c.630+68A= (n.630+68A=)
18g.31089373G>ACA2641388903DSC2c.201+66C>T (n.201+66C>T)
c.630+66C>T (n.630+66C>T)
 gnomAD v4
18g.31089373G>CCA2641388905DSC2c.201+66C>G (n.201+66C>G)
c.630+66C>G (n.630+66C>G)
 gnomAD v4
18g.31089373G>TCA2641388904DSC2c.201+66C>A (n.201+66C>A)
c.630+66C>A (n.630+66C>A)
 gnomAD v4
18g.31089378T>CCA2576478877DSC2c.201+61A>G (n.201+61A>G)
c.630+61A>G (n.630+61A>G)
 gnomAD v4
18g.31089381G>ACA2641388906DSC2c.201+58C>T (n.201+58C>T)
c.630+58C>T (n.630+58C>T)
 gnomAD v4
18g.31089383G>CCA2293654897DSC2c.201+56C>G (n.201+56C>G)
c.630+56C>G (n.630+56C>G)
 dbSNP
18g.31089383G=CA2293654896DSC2c.201+56C= (n.201+56C=)
c.630+56C= (n.630+56C=)
18g.31089384A=CA2293654898DSC2c.201+55T= (n.201+55T=)
c.630+55T= (n.630+55T=)
18g.31089384A>TCA297641727DSC2c.201+55T>A (n.201+55T>A)
c.630+55T>A (n.630+55T>A)
 dbSNP gnomAD v3 gnomAD v4
18g.31089385C>ACA2641388911DSC2c.201+54G>T (n.201+54G>T)
c.630+54G>T (n.630+54G>T)
 gnomAD v4
18g.31089385C=CA2293654899DSC2c.201+54G= (n.201+54G=)
c.630+54G= (n.630+54G=)
18g.31089385C>TCA297641737DSC2c.201+54G>A (n.201+54G>A)
c.630+54G>A (n.630+54G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089386A=CA2293654900DSC2c.201+53T= (n.201+53T=)
c.630+53T= (n.630+53T=)
18g.31089386A>GCA297641749DSC2c.201+53T>C (n.201+53T>C)
c.630+53T>C (n.630+53T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.31089387A>TCA2562221247DSC2c.201+52T>A (n.201+52T>A)
c.630+52T>A (n.630+52T>A)
18g.31089390T>CCA2293654902DSC2c.201+49A>G (n.201+49A>G)
c.630+49A>G (n.630+49A>G)
 dbSNP
18g.31089390T=CA2293654901DSC2c.201+49A= (n.201+49A=)
c.630+49A= (n.630+49A=)
18g.31089391G>ACA629136633DSC2c.201+48C>T (n.201+48C>T)
c.630+48C>T (n.630+48C>T)
 dbSNP gnomAD v2 gnomAD v4
18g.31089391G=CA2293654903DSC2c.201+48C= (n.201+48C=)
c.630+48C= (n.630+48C=)
18g.31089391G>TCA2641388916DSC2c.201+48C>A (n.201+48C>A)
c.630+48C>A (n.630+48C>A)
 gnomAD v4
18g.31089393C>ACA2293654905DSC2c.201+46G>T (n.201+46G>T)
c.630+46G>T (n.630+46G>T)
 dbSNP
18g.31089393C=CA2293654904DSC2c.201+46G= (n.201+46G=)
c.630+46G= (n.630+46G=)
18g.31089393C>GCA2293654906DSC2c.201+46G>C (n.201+46G>C)
c.630+46G>C (n.630+46G>C)
 dbSNP gnomAD v4
18g.31089393C>TCA2641388918DSC2c.201+46G>A (n.201+46G>A)
c.630+46G>A (n.630+46G>A)
 gnomAD v4
18g.31089394C=CA2293654907DSC2c.201+45G= (n.201+45G=)
c.630+45G= (n.630+45G=)
18g.31089394C>TCA039116DSC2c.201+45G>A (n.201+45G>A)
c.630+45G>A (n.630+45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089396A=CA2293654908DSC2c.201+43T= (n.201+43T=)
c.630+43T= (n.630+43T=)
18g.31089396A>TCA039112DSC2c.201+43T>A (n.201+43T>A)
c.630+43T>A (n.630+43T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089400T>CCA2641388921DSC2c.201+39A>G (n.201+39A>G)
c.630+39A>G (n.630+39A>G)
 gnomAD v4
18g.31089401C=CA2293654909DSC2c.201+38G= (n.201+38G=)
c.630+38G= (n.630+38G=)
18g.31089401C>TCA039100DSC2c.201+38G>A (n.201+38G>A)
c.630+38G>A (n.630+38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089402A>GCA2641388923DSC2c.201+37T>C (n.201+37T>C)
c.630+37T>C (n.630+37T>C)
 gnomAD v4
18g.31089403T>CCA2641388924DSC2c.201+36A>G (n.201+36A>G)
c.630+36A>G (n.630+36A>G)
 gnomAD v4
18g.31089404C>TCA2641388926DSC2c.201+35G>A (n.201+35G>A)
c.630+35G>A (n.630+35G>A)
 gnomAD v4
18g.31089406T>CCA778399413DSC2c.201+33A>G (n.201+33A>G)
c.630+33A>G (n.630+33A>G)
 dbSNP gnomAD v4
18g.31089406T>GCA2641388928DSC2c.201+33A>C (n.201+33A>C)
c.630+33A>C (n.630+33A>C)
 gnomAD v4
18g.31089406T=CA2293654910DSC2c.201+33A= (n.201+33A=)
c.630+33A= (n.630+33A=)
18g.31089408G>ACA2641388932DSC2c.201+31C>T (n.201+31C>T)
c.630+31C>T (n.630+31C>T)
 gnomAD v4
18g.31089409C=CA2293654911DSC2c.201+30G= (n.201+30G=)
c.630+30G= (n.630+30G=)
18g.31089409C>TCA2293654912DSC2c.201+30G>A (n.201+30G>A)
c.630+30G>A (n.630+30G>A)
 dbSNP gnomAD v4
18g.31089411A>TCA2811993241DSC2c.201+28T>A (n.201+28T>A)
c.630+28T>A (n.630+28T>A)
18g.31089413T>CCA629136634DSC2c.201+26A>G (n.201+26A>G)
c.630+26A>G (n.630+26A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31089413T=CA2293654913DSC2c.201+26A= (n.201+26A=)
c.630+26A= (n.630+26A=)
18g.31089415C>ACA988890006DSC2c.201+24G>T (n.201+24G>T)
c.630+24G>T (n.630+24G>T)
 dbSNP gnomAD v3 gnomAD v4
18g.31089415C=CA2293654914DSC2c.201+24G= (n.201+24G=)
c.630+24G= (n.630+24G=)
18g.31089415C>GCA2641388939DSC2c.201+24G>C (n.201+24G>C)
c.630+24G>C (n.630+24G>C)
 gnomAD v4
18g.31089415C>TCA629136635DSC2c.201+24G>A (n.201+24G>A)
c.630+24G>A (n.630+24G>A)
 dbSNP gnomAD v2 gnomAD v4
18g.31089416A>TCA2641388945DSC2c.201+23T>A (n.201+23T>A)
c.630+23T>A (n.630+23T>A)
 gnomAD v4
18g.31089417G>ACA629136636DSC2c.201+22C>T (n.201+22C>T)
c.630+22C>T (n.630+22C>T)
 dbSNP gnomAD v2
18g.31089417G>CCA629136637DSC2c.201+22C>G (n.201+22C>G)
c.630+22C>G (n.630+22C>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31089417G=CA2293654915DSC2c.201+22C= (n.201+22C=)
c.630+22C= (n.630+22C=)
18g.31089418T>ACA039087DSC2c.201+21A>T (n.201+21A>T)
c.630+21A>T (n.630+21A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089418T=CA2293654916DSC2c.201+21A= (n.201+21A=)
c.630+21A= (n.630+21A=)
18g.31089419A=CA2293654918DSC2c.201+20T= (n.201+20T=)
c.630+20T= (n.630+20T=)
18g.31089419A>GCA2293654917DSC2c.201+20T>C (n.201+20T>C)
c.630+20T>C (n.630+20T>C)
 dbSNP
18g.31089419_31089421dupCA2641388951DSC2c.201+18_201+20dup (n.201+18_201+20dup)
c.630+18_630+20dup (n.630+18_630+20dup)
 gnomAD v4
18g.31089420C>ACA629136638DSC2c.201+19G>T (n.201+19G>T)
c.630+19G>T (n.630+19G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31089420C=CA2293654919DSC2c.201+19G= (n.201+19G=)
c.630+19G= (n.630+19G=)
18g.31089420C>TCA039082DSC2c.201+19G>A (n.201+19G>A)
c.630+19G>A (n.630+19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089421A>GCA2641388962DSC2c.201+18T>C (n.201+18T>C)
c.630+18T>C (n.630+18T>C)
 gnomAD v4
18g.31089424C=CA2293654920DSC2c.201+15G= (n.201+15G=)
c.630+15G= (n.630+15G=)
18g.31089424C>GCA629136639DSC2c.201+15G>C (n.201+15G>C)
c.630+15G>C (n.630+15G>C)
 dbSNP gnomAD v2 gnomAD v4
18g.31089424C>TCA039061DSC2c.201+15G>A (n.201+15G>A)
c.630+15G>A (n.630+15G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089425_31089426delinsATCA2293654921DSC2c.201+13_201+14delinsAT (n.201+13_201+14delinsAT)
c.630+13_630+14delinsAT (n.630+13_630+14delinsAT)
18g.31089429delCA039046DSC2c.201+13del (n.201+13del)
c.630+13del (n.630+13del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089427T>CCA629136640DSC2c.201+12A>G (n.201+12A>G)
c.630+12A>G (n.630+12A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31089427T=CA2293654922DSC2c.201+12A= (n.201+12A=)
c.630+12A= (n.630+12A=)
18g.31089428_31089431delinsTTAGCA2293654923DSC2c.201+8_201+11delinsCTAA (n.201+8_201+11delinsCTAA)
c.630+8_630+11delinsCTAA (n.630+8_630+11delinsCTAA)
18g.31089429T>ACA2576478878DSC2c.201+10A>T (n.201+10A>T)
c.630+10A>T (n.630+10A>T)
18g.31089429T>CCA2573155167DSC2c.201+10A>G (n.201+10A>G)
c.630+10A>G (n.630+10A>G)
 ClinVar dbSNP
18g.31089429_31089431delinsAACA022874DSC2c.201+8_201+10delinsTT (n.201+8_201+10delinsTT)
c.630+8_630+10delinsTT (n.630+8_630+10delinsTT)
 ClinVar dbSNP
18g.31089431delCA2576478879DSC2c.201+8del (n.201+8del)
c.630+8del (n.630+8del)
18g.31089431G>ACA039121DSC2c.201+8C>T (n.201+8C>T)
c.630+8C>T (n.630+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089431G=CA2293654924DSC2c.201+8C= (n.201+8C=)
c.630+8C= (n.630+8C=)
18g.31089431G>TCA2573155168DSC2c.201+8C>A (n.201+8C>A)
c.630+8C>A (n.630+8C>A)
 ClinVar dbSNP
18g.31089433C>TCA2811993242DSC2c.201+6G>A (n.201+6G>A)
c.630+6G>A (n.630+6G>A)
18g.31089435T>CCA2641388989DSC2c.201+4A>G (n.201+4A>G)
c.630+4A>G (n.630+4A>G)
 gnomAD v4
18g.31089437A>CCA402113295DSC2c.201+2T>G (n.201+2T>G)
c.630+2T>G (n.630+2T>G)
18g.31089437A>GCA402113291DSC2c.201+2T>C (n.201+2T>C)
c.630+2T>C (n.630+2T>C)
18g.31089437A>TCA402113293DSC2c.201+2T>A (n.201+2T>A)
c.630+2T>A (n.630+2T>A)
18g.31089438C>ACA402113297DSC2c.201+1G>T (n.201+1G>T)
c.630+1G>T (n.630+1G>T)
18g.31089438C>GCA402113299DSC2c.201+1G>C (n.201+1G>C)
c.630+1G>C (n.630+1G>C)
18g.31089438C>TCA402113300DSC2c.201+1G>A (n.201+1G>A)
c.630+1G>A (n.630+1G>A)
18g.31089439C>ACA402113303DSC2c.201G>T (p.Glu67Asp)
c.630G>T (p.Glu210Asp)
18g.31089439C>GCA402113305DSC2c.201G>C (p.Glu67Asp)
c.630G>C (p.Glu210Asp)
18g.31089439C>TCA503389492DSC2c.201G>A (p.Glu67=)
c.630G>A (p.Glu210=)
18g.31089440T>ACA402113310DSC2c.200A>T (p.Glu67Val)
c.629A>T (p.Glu210Val)
18g.31089440T>CCA402113307DSC2c.200A>G (p.Glu67Gly)
c.629A>G (p.Glu210Gly)
18g.31089440T>GCA402113308DSC2c.200A>C (p.Glu67Ala)
c.629A>C (p.Glu210Ala)
 ClinVar gnomAD v4
18g.31089441C>ACA402113312DSC2c.199G>T (p.Glu67Ter)
c.628G>T (p.Glu210Ter)
18g.31089441C>GCA402113314DSC2c.199G>C (p.Glu67Gln)
c.628G>C (p.Glu210Gln)
18g.31089441C>TCA402113316DSC2c.199G>A (p.Glu67Lys)
c.628G>A (p.Glu210Lys)
 gnomAD v4 COSMIC COSMIC
18g.31089442A=CA2293654925DSC2c.198T= (p.Phe66=)
c.627T= (p.Phe209=)
18g.31089442A>CCA402113318DSC2c.198T>G (p.Phe66Leu)
c.627T>G (p.Phe209Leu)
18g.31089442A>GCA039039DSC2c.198T>C (p.Phe66=)
c.627T>C (p.Phe209=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089442A>TCA402113321DSC2c.198T>A (p.Phe66Leu)
c.627T>A (p.Phe209Leu)
18g.31089443A>CCA402113324DSC2c.197T>G (p.Phe66Cys)
c.626T>G (p.Phe209Cys)
18g.31089443A>GCA402113325DSC2c.197T>C (p.Phe66Ser)
c.626T>C (p.Phe209Ser)
18g.31089443A>TCA402113328DSC2c.197T>A (p.Phe66Tyr)
c.626T>A (p.Phe209Tyr)
18g.31089444A>CCA402113330DSC2c.196T>G (p.Phe66Val)
c.625T>G (p.Phe209Val)
18g.31089444A>GCA402113332DSC2c.196T>C (p.Phe66Leu)
c.625T>C (p.Phe209Leu)
 gnomAD v4
18g.31089444A>TCA402113334DSC2c.196T>A (p.Phe66Ile)
c.625T>A (p.Phe209Ile)
18g.31089444_31089492delinsAAGATTCATACTGCTCACGATCTACAGGACGAGTACAATACAAGTTTCCCA2293654926DSC2c.148_196delinsGGAAACTTGTATTGTACTCGTCCTGTAGATCGTGAGCAGTATGAATCTT (p.Gly50=)
c.577_625delinsGGAAACTTGTATTGTACTCGTCCTGTAGATCGTGAGCAGTATGAATCTT (p.Gly193=)
18g.31089445A>CCA503389493DSC2c.195T>G (p.Ser65=)
c.624T>G (p.Ser208=)
18g.31089445A>GCA503389494DSC2c.195T>C (p.Ser65=)
c.624T>C (p.Ser208=)
18g.31089445A>TCA503389495DSC2c.195T>A (p.Ser65=)
c.624T>A (p.Ser208=)
18g.31089447_31089494delCA038870DSC2c.148_195del (p.Gly50_Ser65del)
c.577_624del (p.Gly193_Ser208del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31089446G>ACA402113341DSC2c.194C>T (p.Ser65Phe)
c.623C>T (p.Ser208Phe)
18g.31089446G>CCA402113338DSC2c.194C>G (p.Ser65Cys)
c.623C>G (p.Ser208Cys)
 gnomAD v4
18g.31089446G>TCA402113340DSC2c.194C>A (p.Ser65Tyr)
c.623C>A (p.Ser208Tyr)
 dbSNP
18g.31089447A>CCA402113343DSC2c.193T>G (p.Ser65Ala)
c.622T>G (p.Ser208Ala)
18g.31089447A>GCA402113344DSC2c.193T>C (p.Ser65Pro)
c.622T>C (p.Ser208Pro)
18g.31089447A>TCA402113346DSC2c.193T>A (p.Ser65Thr)
c.622T>A (p.Ser208Thr)
18g.31089448T>ACA402113348DSC2c.192A>T (p.Glu64Asp)
c.621A>T (p.Glu207Asp)
18g.31089448T>CCA503389496DSC2c.192A>G (p.Glu64=)
c.621A>G (p.Glu207=)
 ClinVar
18g.31089448T>GCA402113350DSC2c.192A>C (p.Glu64Asp)
c.621A>C (p.Glu207Asp)
 ClinVar dbSNP
18g.31089449T>ACA402113353DSC2c.191A>T (p.Glu64Val)
c.620A>T (p.Glu207Val)
18g.31089449T>CCA402113355DSC2c.191A>G (p.Glu64Gly)
c.620A>G (p.Glu207Gly)
18g.31089449T>GCA402113356DSC2c.191A>C (p.Glu64Ala)
c.620A>C (p.Glu207Ala)
 COSMIC COSMIC
18g.31089450C>ACA402113358DSC2c.190G>T (p.Glu64Ter)
c.619G>T (p.Glu207Ter)
18g.31089450C=CA2293654927DSC2c.190G= (p.Glu64=)
c.619G= (p.Glu207=)
18g.31089450C>GCA039009DSC2c.190G>C (p.Glu64Gln)
c.619G>C (p.Glu207Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089450C>TCA038995DSC2c.190G>A (p.Glu64Lys)
c.619G>A (p.Glu207Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089451A>CCA402113363DSC2c.189T>G (p.Tyr63Ter)
c.618T>G (p.Tyr206Ter)
18g.31089451A>GCA503389508DSC2c.189T>C (p.Tyr63=)
c.618T>C (p.Tyr206=)
 gnomAD v4
18g.31089451A>TCA402113365DSC2c.189T>A (p.Tyr63Ter)
c.618T>A (p.Tyr206Ter)
18g.31089452T>ACA402113368DSC2c.188A>T (p.Tyr63Phe)
c.617A>T (p.Tyr206Phe)
18g.31089452T>CCA038975DSC2c.188A>G (p.Tyr63Cys)
c.617A>G (p.Tyr206Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089452T>GCA402113367DSC2c.188A>C (p.Tyr63Ser)
c.617A>C (p.Tyr206Ser)
18g.31089452T=CA2293654928DSC2c.188A= (p.Tyr63=)
c.617A= (p.Tyr206=)
18g.31089453A>CCA402113370DSC2c.187T>G (p.Tyr63Asp)
c.616T>G (p.Tyr206Asp)
18g.31089453A>GCA402113372DSC2c.187T>C (p.Tyr63His)
c.616T>C (p.Tyr206His)
18g.31089453A>TCA402113373DSC2c.187T>A (p.Tyr63Asn)
c.616T>A (p.Tyr206Asn)
18g.31089453_31089454insTTCA2521147291DSC2c.186_187insAA (p.Tyr63AsnfsTer7)
c.615_616insAA (p.Tyr206AsnfsTer7)
18g.31089454C>ACA402113377DSC2c.186G>T (p.Gln62His)
c.615G>T (p.Gln205His)
 gnomAD v4
18g.31089454C>GCA402113379DSC2c.186G>C (p.Gln62His)
c.615G>C (p.Gln205His)
 gnomAD v4
18g.31089454C>TCA503389524DSC2c.186G>A (p.Gln62=)
c.615G>A (p.Gln205=)
18g.31089455T>ACA402113381DSC2c.185A>T (p.Gln62Leu)
c.614A>T (p.Gln205Leu)
18g.31089455T>CCA402113383DSC2c.185A>G (p.Gln62Arg)
c.614A>G (p.Gln205Arg)
18g.31089455T>GCA402113385DSC2c.185A>C (p.Gln62Pro)
c.614A>C (p.Gln205Pro)
18g.31089456G>ACA402113388DSC2c.184C>T (p.Gln62Ter)
c.613C>T (p.Gln205Ter)
 gnomAD v4
18g.31089456G>CCA402113389DSC2c.184C>G (p.Gln62Glu)
c.613C>G (p.Gln205Glu)
18g.31089456G>TCA402113391DSC2c.184C>A (p.Gln62Lys)
c.613C>A (p.Gln205Lys)
18g.31089456_31089457delCA2500010614DSC2c.183_184del (p.Gln62ValfsTer2)
c.612_613del (p.Gln205ValfsTer2)
18g.31089457C>ACA402113393DSC2c.183G>T (p.Glu61Asp)
c.612G>T (p.Glu204Asp)
18g.31089457C>GCA402113394DSC2c.183G>C (p.Glu61Asp)
c.612G>C (p.Glu204Asp)
18g.31089457C>TCA503389539DSC2c.183G>A (p.Glu61=)
c.612G>A (p.Glu204=)
18g.31089458T>ACA402113398DSC2c.182A>T (p.Glu61Val)
c.611A>T (p.Glu204Val)
18g.31089458T>CCA402113400DSC2c.182A>G (p.Glu61Gly)
c.611A>G (p.Glu204Gly)
18g.31089458T>GCA402113395DSC2c.182A>C (p.Glu61Ala)
c.611A>C (p.Glu204Ala)
18g.31089459C>ACA402113402DSC2c.181G>T (p.Glu61Ter)
c.610G>T (p.Glu204Ter)
18g.31089459C>GCA402113405DSC2c.181G>C (p.Glu61Gln)
c.610G>C (p.Glu204Gln)
18g.31089459C>TCA402113403DSC2c.181G>A (p.Glu61Lys)
c.610G>A (p.Glu204Lys)
 ClinVar COSMIC COSMIC
18g.31089460A>CCA503389551DSC2c.180T>G (p.Arg60=)
c.609T>G (p.Arg203=)
18g.31089460A>GCA503389553DSC2c.180T>C (p.Arg60=)
c.609T>C (p.Arg203=)
 gnomAD v4
18g.31089460A>TCA503389556DSC2c.180T>A (p.Arg60=)
c.609T>A (p.Arg203=)
18g.31089461C>ACA402113407DSC2c.179G>T (p.Arg60Leu)
c.608G>T (p.Arg203Leu)
18g.31089461C=CA2293654929DSC2c.179G= (p.Arg60=)
c.608G= (p.Arg203=)
18g.31089461C>GCA402113409DSC2c.179G>C (p.Arg60Pro)
c.608G>C (p.Arg203Pro)
18g.31089461C>TCA038941DSC2c.179G>A (p.Arg60His)
c.608G>A (p.Arg203His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31089462G>ACA022869DSC2c.178C>T (p.Arg60Cys)
c.607C>T (p.Arg203Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.31089462G>CCA402113414DSC2c.178C>G (p.Arg60Gly)
c.607C>G (p.Arg203Gly)
18g.31089462G=CA2293654930DSC2c.178C= (p.Arg60=)
c.607C= (p.Arg203=)
18g.31089462G>TCA402113416DSC2c.178C>A (p.Arg60Ser)
c.607C>A (p.Arg203Ser)
 gnomAD v4

Number of alleles fetched