Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101760038delCA2620427919GNPTABc.3243del (p.Asn1082ThrfsTer9)
n.109del
c.55del
c.3162del (p.Asn1055ThrfsTer9)
c.3027del (p.Asn1010ThrfsTer9)
c.2016del (p.Asn673ThrfsTer9)
 gnomAD v4
12g.101760038G>ACA6746229GNPTABc.3241C>T (p.Pro1081Ser)
n.107C>T
c.53C>T
c.3160C>T (p.Pro1054Ser)
c.3025C>T (p.Pro1009Ser)
c.2014C>T (p.Pro672Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101760038G>CCA386294592GNPTABc.3241C>G (p.Pro1081Ala)
n.107C>G
c.53C>G
c.3160C>G (p.Pro1054Ala)
c.3025C>G (p.Pro1009Ala)
c.2014C>G (p.Pro672Ala)
12g.101760038G=CA2058954191GNPTABc.3241C= (p.Pro1081=)
n.107C=
c.53C=
c.3160C= (p.Pro1054=)
c.3025C= (p.Pro1009=)
c.2014C= (p.Pro672=)
12g.101760038G>TCA386294593GNPTABc.3241C>A (p.Pro1081Thr)
n.107C>A
c.53C>A
c.3160C>A (p.Pro1054Thr)
c.3025C>A (p.Pro1009Thr)
c.2014C>A (p.Pro672Thr)
 gnomAD v4
12g.101760039A>CCA386294594GNPTABc.3240T>G (p.Asp1080Glu)
n.106T>G
c.52T>G
c.3159T>G (p.Asp1053Glu)
c.3024T>G (p.Asp1008Glu)
c.2013T>G (p.Asp671Glu)
12g.101760039A>GCA481318438GNPTABc.3240T>C (p.Asp1080=)
n.106T>C
c.52T>C
c.3159T>C (p.Asp1053=)
c.3024T>C (p.Asp1008=)
c.2013T>C (p.Asp671=)
12g.101760039A>TCA386294595GNPTABc.3240T>A (p.Asp1080Glu)
n.106T>A
c.52T>A
c.3159T>A (p.Asp1053Glu)
c.3024T>A (p.Asp1008Glu)
c.2013T>A (p.Asp671Glu)
12g.101760040T>ACA386294596GNPTABc.3239A>T (p.Asp1080Val)
n.105A>T
c.51A>T
c.3158A>T (p.Asp1053Val)
c.3023A>T (p.Asp1008Val)
c.2012A>T (p.Asp671Val)
 gnomAD v4
12g.101760040T>CCA386294597GNPTABc.3239A>G (p.Asp1080Gly)
n.105A>G
c.51A>G
c.3158A>G (p.Asp1053Gly)
c.3023A>G (p.Asp1008Gly)
c.2012A>G (p.Asp671Gly)
 gnomAD v4
12g.101760040T>GCA386294598GNPTABc.3239A>C (p.Asp1080Ala)
n.105A>C
c.51A>C
c.3158A>C (p.Asp1053Ala)
c.3023A>C (p.Asp1008Ala)
c.2012A>C (p.Asp671Ala)
12g.101760041C>ACA6746230GNPTABc.3238G>T (p.Asp1080Tyr)
n.104G>T
c.50G>T
c.3157G>T (p.Asp1053Tyr)
c.3022G>T (p.Asp1008Tyr)
c.2011G>T (p.Asp671Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101760041C=CA2058954192GNPTABc.3238G= (p.Asp1080=)
n.104G=
c.50G=
c.3157G= (p.Asp1053=)
c.3022G= (p.Asp1008=)
c.2011G= (p.Asp671=)
12g.101760041C>GCA386294600GNPTABc.3238G>C (p.Asp1080His)
n.104G>C
c.50G>C
c.3157G>C (p.Asp1053His)
c.3022G>C (p.Asp1008His)
c.2011G>C (p.Asp671His)
12g.101760041C>TCA386294599GNPTABc.3238G>A (p.Asp1080Asn)
n.104G>A
c.50G>A
c.3157G>A (p.Asp1053Asn)
c.3022G>A (p.Asp1008Asn)
c.2011G>A (p.Asp671Asn)
12g.101760042A=CA2058954193GNPTABc.3237T= (p.Tyr1079=)
n.103T=
c.49T=
c.3156T= (p.Tyr1052=)
c.3021T= (p.Tyr1007=)
c.2010T= (p.Tyr670=)
12g.101760042A>CCA386294601GNPTABc.3237T>G (p.Tyr1079Ter)
n.103T>G
c.49T>G
c.3156T>G (p.Tyr1052Ter)
c.3021T>G (p.Tyr1007Ter)
c.2010T>G (p.Tyr670Ter)
12g.101760042A>GCA481318440GNPTABc.3237T>C (p.Tyr1079=)
n.103T>C
c.49T>C
c.3156T>C (p.Tyr1052=)
c.3021T>C (p.Tyr1007=)
c.2010T>C (p.Tyr670=)
 dbSNP gnomAD v2 gnomAD v4
12g.101760042A>TCA386294602GNPTABc.3237T>A (p.Tyr1079Ter)
n.103T>A
c.49T>A
c.3156T>A (p.Tyr1052Ter)
c.3021T>A (p.Tyr1007Ter)
c.2010T>A (p.Tyr670Ter)
12g.101760043T>ACA386294603GNPTABc.3236A>T (p.Tyr1079Phe)
n.102A>T
c.48A>T
c.3155A>T (p.Tyr1052Phe)
c.3020A>T (p.Tyr1007Phe)
c.2009A>T (p.Tyr670Phe)
12g.101760043T>CCA6746231GNPTABc.3236A>G (p.Tyr1079Cys)
n.102A>G
c.48A>G
c.3155A>G (p.Tyr1052Cys)
c.3020A>G (p.Tyr1007Cys)
c.2009A>G (p.Tyr670Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101760043T>GCA386294604GNPTABc.3236A>C (p.Tyr1079Ser)
n.102A>C
c.48A>C
c.3155A>C (p.Tyr1052Ser)
c.3020A>C (p.Tyr1007Ser)
c.2009A>C (p.Tyr670Ser)
12g.101760043T=CA2058954194GNPTABc.3236A= (p.Tyr1079=)
n.102A=
c.48A=
c.3155A= (p.Tyr1052=)
c.3020A= (p.Tyr1007=)
c.2009A= (p.Tyr670=)
12g.101760044A=CA2058954196GNPTABc.3235T= (p.Tyr1079=)
n.101T=
c.47T=
c.3154T= (p.Tyr1052=)
c.3019T= (p.Tyr1007=)
c.2008T= (p.Tyr670=)
12g.101760044A>CCA386294605GNPTABc.3235T>G (p.Tyr1079Asp)
n.101T>G
c.47T>G
c.3154T>G (p.Tyr1052Asp)
c.3019T>G (p.Tyr1007Asp)
c.2008T>G (p.Tyr670Asp)
12g.101760044A>GCA386294606GNPTABc.3235T>C (p.Tyr1079His)
n.101T>C
c.47T>C
c.3154T>C (p.Tyr1052His)
c.3019T>C (p.Tyr1007His)
c.2008T>C (p.Tyr670His)
12g.101760044A>TCA386294607GNPTABc.3235T>A (p.Tyr1079Asn)
n.101T>A
c.47T>A
c.3154T>A (p.Tyr1052Asn)
c.3019T>A (p.Tyr1007Asn)
c.2008T>A (p.Tyr670Asn)
12g.101760045G>ACA481318445GNPTABc.3234C>T (p.Tyr1078=)
n.100C>T
c.46C>T
c.3153C>T (p.Tyr1051=)
c.3018C>T (p.Tyr1006=)
c.2007C>T (p.Tyr669=)
12g.101760045G>CCA386294608GNPTABc.3234C>G (p.Tyr1078Ter)
n.100C>G
c.46C>G
c.3153C>G (p.Tyr1051Ter)
c.3018C>G (p.Tyr1006Ter)
c.2007C>G (p.Tyr669Ter)
12g.101760045G>TCA386294609GNPTABc.3234C>A (p.Tyr1078Ter)
n.100C>A
c.46C>A
c.3153C>A (p.Tyr1051Ter)
c.3018C>A (p.Tyr1006Ter)
c.2007C>A (p.Tyr669Ter)
 gnomAD v4
12g.101760046_101760049dupCA343075GNPTABc.3231_3234dup (p.Tyr1079LeufsTer3)
n.97_100dup
c.43_46dup
c.3150_3153dup (p.Tyr1052LeufsTer3)
c.3015_3018dup (p.Tyr1007LeufsTer3)
c.2004_2007dup (p.Tyr670LeufsTer3)
 ClinVar dbSNP
12g.101760046delCA2620427922GNPTABc.3233del (p.Tyr1078SerfsTer13)
n.99del
c.45del
c.3152del (p.Tyr1051SerfsTer13)
c.3017del (p.Tyr1006SerfsTer13)
c.2006del (p.Tyr669SerfsTer13)
 gnomAD v4
12g.101760046T>ACA386294610GNPTABc.3233A>T (p.Tyr1078Phe)
n.99A>T
c.45A>T
c.3152A>T (p.Tyr1051Phe)
c.3017A>T (p.Tyr1006Phe)
c.2006A>T (p.Tyr669Phe)
12g.101760046T>CCA386294612GNPTABc.3233A>G (p.Tyr1078Cys)
n.99A>G
c.45A>G
c.3152A>G (p.Tyr1051Cys)
c.3017A>G (p.Tyr1006Cys)
c.2006A>G (p.Tyr669Cys)
12g.101760046T>GCA386294611GNPTABc.3233A>C (p.Tyr1078Ser)
n.99A>C
c.45A>C
c.3152A>C (p.Tyr1051Ser)
c.3017A>C (p.Tyr1006Ser)
c.2006A>C (p.Tyr669Ser)
12g.101760046_101760047delinsTACA2058954198GNPTABc.3232_3233delinsTA (p.Tyr1078=)
n.98_99delinsTA
c.44_45delinsTA
c.3151_3152delinsTA (p.Tyr1051=)
c.3016_3017delinsTA (p.Tyr1006=)
c.2005_2006delinsTA (p.Tyr669=)
12g.101760047delCA343393GNPTABc.3232del (p.Tyr1078ThrfsTer13)
n.98del
c.44del
c.3151del (p.Tyr1051ThrfsTer13)
c.3016del (p.Tyr1006ThrfsTer13)
c.2005del (p.Tyr669ThrfsTer13)
 ClinVar dbSNP gnomAD v4
12g.101760047A>CCA386294613GNPTABc.3232T>G (p.Tyr1078Asp)
n.98T>G
c.44T>G
c.3151T>G (p.Tyr1051Asp)
c.3016T>G (p.Tyr1006Asp)
c.2005T>G (p.Tyr669Asp)
12g.101760047A>GCA386294614GNPTABc.3232T>C (p.Tyr1078His)
n.98T>C
c.44T>C
c.3151T>C (p.Tyr1051His)
c.3016T>C (p.Tyr1006His)
c.2005T>C (p.Tyr669His)
12g.101760047A>TCA386294615GNPTABc.3232T>A (p.Tyr1078Asn)
n.98T>A
c.44T>A
c.3151T>A (p.Tyr1051Asn)
c.3016T>A (p.Tyr1006Asn)
c.2005T>A (p.Tyr669Asn)
12g.101760048G>ACA481318450GNPTABc.3231C>T (p.Ser1077=)
n.97C>T
c.43C>T
c.3150C>T (p.Ser1050=)
c.3015C>T (p.Ser1005=)
c.2004C>T (p.Ser668=)
12g.101760048G>CCA481318451GNPTABc.3231C>G (p.Ser1077=)
n.97C>G
c.43C>G
c.3150C>G (p.Ser1050=)
c.3015C>G (p.Ser1005=)
c.2004C>G (p.Ser668=)
 dbSNP gnomAD v2 gnomAD v4
12g.101760048G=CA2058954199GNPTABc.3231C= (p.Ser1077=)
n.97C=
c.43C=
c.3150C= (p.Ser1050=)
c.3015C= (p.Ser1005=)
c.2004C= (p.Ser668=)
12g.101760048G>TCA481318452GNPTABc.3231C>A (p.Ser1077=)
n.97C>A
c.43C>A
c.3150C>A (p.Ser1050=)
c.3015C>A (p.Ser1005=)
c.2004C>A (p.Ser668=)
 gnomAD v4
12g.101760049G>ACA386294618GNPTABc.3230C>T (p.Ser1077Phe)
n.96C>T
c.42C>T
c.3149C>T (p.Ser1050Phe)
c.3014C>T (p.Ser1005Phe)
c.2003C>T (p.Ser668Phe)
12g.101760049G>CCA386294616GNPTABc.3230C>G (p.Ser1077Cys)
n.96C>G
c.42C>G
c.3149C>G (p.Ser1050Cys)
c.3014C>G (p.Ser1005Cys)
c.2003C>G (p.Ser668Cys)
12g.101760049G>TCA386294617GNPTABc.3230C>A (p.Ser1077Tyr)
n.96C>A
c.42C>A
c.3149C>A (p.Ser1050Tyr)
c.3014C>A (p.Ser1005Tyr)
c.2003C>A (p.Ser668Tyr)
12g.101760050A=CA2058954202GNPTABc.3229T= (p.Ser1077=)
n.95T=
c.41T=
c.3148T= (p.Ser1050=)
c.3013T= (p.Ser1005=)
c.2002T= (p.Ser668=)
12g.101760050A>CCA386294619GNPTABc.3229T>G (p.Ser1077Ala)
n.95T>G
c.41T>G
c.3148T>G (p.Ser1050Ala)
c.3013T>G (p.Ser1005Ala)
c.2002T>G (p.Ser668Ala)
12g.101760050A>GCA386294620GNPTABc.3229T>C (p.Ser1077Pro)
n.95T>C
c.41T>C
c.3148T>C (p.Ser1050Pro)
c.3013T>C (p.Ser1005Pro)
c.2002T>C (p.Ser668Pro)
12g.101760050A>TCA386294621GNPTABc.3229T>A (p.Ser1077Thr)
n.95T>A
c.41T>A
c.3148T>A (p.Ser1050Thr)
c.3013T>A (p.Ser1005Thr)
c.2002T>A (p.Ser668Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.101760051T>ACA386294622GNPTABc.3228A>T (p.Glu1076Asp)
n.94A>T
c.40A>T
c.3147A>T (p.Glu1049Asp)
c.3012A>T (p.Glu1004Asp)
c.2001A>T (p.Glu667Asp)
12g.101760051T>CCA481318455GNPTABc.3228A>G (p.Glu1076=)
n.94A>G
c.40A>G
c.3147A>G (p.Glu1049=)
c.3012A>G (p.Glu1004=)
c.2001A>G (p.Glu667=)
12g.101760051T>GCA386294623GNPTABc.3228A>C (p.Glu1076Asp)
n.94A>C
c.40A>C
c.3147A>C (p.Glu1049Asp)
c.3012A>C (p.Glu1004Asp)
c.2001A>C (p.Glu667Asp)
12g.101760052T>ACA386294624GNPTABc.3227A>T (p.Glu1076Val)
n.93A>T
c.39A>T
c.3146A>T (p.Glu1049Val)
c.3011A>T (p.Glu1004Val)
c.2000A>T (p.Glu667Val)
12g.101760052T>CCA386294625GNPTABc.3227A>G (p.Glu1076Gly)
n.93A>G
c.39A>G
c.3146A>G (p.Glu1049Gly)
c.3011A>G (p.Glu1004Gly)
c.2000A>G (p.Glu667Gly)
12g.101760052T>GCA386294626GNPTABc.3227A>C (p.Glu1076Ala)
n.93A>C
c.39A>C
c.3146A>C (p.Glu1049Ala)
c.3011A>C (p.Glu1004Ala)
c.2000A>C (p.Glu667Ala)
12g.101760053C>ACA386294629GNPTABc.3226G>T (p.Glu1076Ter)
n.92G>T
c.38G>T
c.3145G>T (p.Glu1049Ter)
c.3010G>T (p.Glu1004Ter)
c.1999G>T (p.Glu667Ter)
12g.101760053C=CA2058954205GNPTABc.3226G= (p.Glu1076=)
n.92G=
c.38G=
c.3145G= (p.Glu1049=)
c.3010G= (p.Glu1004=)
c.1999G= (p.Glu667=)
12g.101760053C>GCA386294628GNPTABc.3226G>C (p.Glu1076Gln)
n.92G>C
c.38G>C
c.3145G>C (p.Glu1049Gln)
c.3010G>C (p.Glu1004Gln)
c.1999G>C (p.Glu667Gln)
12g.101760053C>TCA386294627GNPTABc.3226G>A (p.Glu1076Lys)
n.92G>A
c.38G>A
c.3145G>A (p.Glu1049Lys)
c.3010G>A (p.Glu1004Lys)
c.1999G>A (p.Glu667Lys)
 dbSNP gnomAD v4 COSMIC
12g.101760054C>ACA386294630GNPTABc.3225G>T (p.Gln1075His)
n.91G>T
c.37G>T
c.3144G>T (p.Gln1048His)
c.3009G>T (p.Gln1003His)
c.1998G>T (p.Gln666His)
12g.101760054C>GCA386294631GNPTABc.3225G>C (p.Gln1075His)
n.91G>C
c.37G>C
c.3144G>C (p.Gln1048His)
c.3009G>C (p.Gln1003His)
c.1998G>C (p.Gln666His)
12g.101760054C>TCA481318458GNPTABc.3225G>A (p.Gln1075=)
n.91G>A
c.37G>A
c.3144G>A (p.Gln1048=)
c.3009G>A (p.Gln1003=)
c.1998G>A (p.Gln666=)
12g.101760055T>ACA386294632GNPTABc.3224A>T (p.Gln1075Leu)
n.90A>T
c.36A>T
c.3143A>T (p.Gln1048Leu)
c.3008A>T (p.Gln1003Leu)
c.1997A>T (p.Gln666Leu)
 gnomAD v4
12g.101760055T>CCA386294633GNPTABc.3224A>G (p.Gln1075Arg)
n.90A>G
c.36A>G
c.3143A>G (p.Gln1048Arg)
c.3008A>G (p.Gln1003Arg)
c.1997A>G (p.Gln666Arg)
 gnomAD v4
12g.101760055T>GCA386294634GNPTABc.3224A>C (p.Gln1075Pro)
n.90A>C
c.36A>C
c.3143A>C (p.Gln1048Pro)
c.3008A>C (p.Gln1003Pro)
c.1997A>C (p.Gln666Pro)
 gnomAD v4
12g.101760056G>ACA386294635GNPTABc.3223C>T (p.Gln1075Ter)
n.89C>T
c.35C>T
c.3142C>T (p.Gln1048Ter)
c.3007C>T (p.Gln1003Ter)
c.1996C>T (p.Gln666Ter)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.101760056G>CCA386294636GNPTABc.3223C>G (p.Gln1075Glu)
n.89C>G
c.35C>G
c.3142C>G (p.Gln1048Glu)
c.3007C>G (p.Gln1003Glu)
c.1996C>G (p.Gln666Glu)
12g.101760056G=CA2058954209GNPTABc.3223C= (p.Gln1075=)
n.89C=
c.35C=
c.3142C= (p.Gln1048=)
c.3007C= (p.Gln1003=)
c.1996C= (p.Gln666=)
12g.101760056G>TCA386294637GNPTABc.3223C>A (p.Gln1075Lys)
n.89C>A
c.35C>A
c.3142C>A (p.Gln1048Lys)
c.3007C>A (p.Gln1003Lys)
c.1996C>A (p.Gln666Lys)
12g.101760057A>CCA481318466GNPTABc.3222T>G (p.Thr1074=)
n.88T>G
c.34T>G
c.3141T>G (p.Thr1047=)
c.3006T>G (p.Thr1002=)
c.1995T>G (p.Thr665=)
12g.101760057A>GCA481318464GNPTABc.3222T>C (p.Thr1074=)
n.88T>C
c.34T>C
c.3141T>C (p.Thr1047=)
c.3006T>C (p.Thr1002=)
c.1995T>C (p.Thr665=)
12g.101760057A>TCA481318462GNPTABc.3222T>A (p.Thr1074=)
n.88T>A
c.34T>A
c.3141T>A (p.Thr1047=)
c.3006T>A (p.Thr1002=)
c.1995T>A (p.Thr665=)
12g.101760058G>ACA386294638GNPTABc.3221C>T (p.Thr1074Ile)
n.87C>T
c.33C>T
c.3140C>T (p.Thr1047Ile)
c.3005C>T (p.Thr1002Ile)
c.1994C>T (p.Thr665Ile)
12g.101760058G>CCA386294639GNPTABc.3221C>G (p.Thr1074Ser)
n.87C>G
c.33C>G
c.3140C>G (p.Thr1047Ser)
c.3005C>G (p.Thr1002Ser)
c.1994C>G (p.Thr665Ser)
12g.101760058G>TCA386294640GNPTABc.3221C>A (p.Thr1074Asn)
n.87C>A
c.33C>A
c.3140C>A (p.Thr1047Asn)
c.3005C>A (p.Thr1002Asn)
c.1994C>A (p.Thr665Asn)
12g.101760059T>ACA386294642GNPTABc.3220A>T (p.Thr1074Ser)
n.86A>T
c.32A>T
c.3139A>T (p.Thr1047Ser)
c.3004A>T (p.Thr1002Ser)
c.1993A>T (p.Thr665Ser)
12g.101760059T>CCA386294643GNPTABc.3220A>G (p.Thr1074Ala)
n.86A>G
c.32A>G
c.3139A>G (p.Thr1047Ala)
c.3004A>G (p.Thr1002Ala)
c.1993A>G (p.Thr665Ala)
12g.101760059T>GCA386294641GNPTABc.3220A>C (p.Thr1074Pro)
n.86A>C
c.32A>C
c.3139A>C (p.Thr1047Pro)
c.3004A>C (p.Thr1002Pro)
c.1993A>C (p.Thr665Pro)
 gnomAD v4
12g.101760059_101760062delinsTTGGCA2058954211GNPTABc.3217_3220delinsCCAA (p.Pro1073=)
n.83_86delinsCCAA
c.29_32delinsCCAA
c.3136_3139delinsCCAA (p.Pro1046=)
c.3001_3004delinsCCAA (p.Pro1001=)
c.1990_1993delinsCCAA (p.Pro664=)
12g.101760060T>ACA481318468GNPTABc.3219A>T (p.Pro1073=)
n.85A>T
c.31A>T
c.3138A>T (p.Pro1046=)
c.3003A>T (p.Pro1001=)
c.1992A>T (p.Pro664=)
12g.101760060T>CCA481318470GNPTABc.3219A>G (p.Pro1073=)
n.85A>G
c.31A>G
c.3138A>G (p.Pro1046=)
c.3003A>G (p.Pro1001=)
c.1992A>G (p.Pro664=)
12g.101760060T>GCA481318469GNPTABc.3219A>C (p.Pro1073=)
n.85A>C
c.31A>C
c.3138A>C (p.Pro1046=)
c.3003A>C (p.Pro1001=)
c.1992A>C (p.Pro664=)
12g.101760063_101760065delCA607153318GNPTABc.3217_3219del (p.Pro1073del)
n.83_85del
c.29_31del
c.3136_3138del (p.Pro1046del)
c.3001_3003del (p.Pro1001del)
c.1990_1992del (p.Pro664del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101760061G>ACA386294644GNPTABc.3218C>T (p.Pro1073Leu)
n.84C>T
c.30C>T
c.3137C>T (p.Pro1046Leu)
c.3002C>T (p.Pro1001Leu)
c.1991C>T (p.Pro664Leu)
12g.101760061G>CCA386294645GNPTABc.3218C>G (p.Pro1073Arg)
n.84C>G
c.30C>G
c.3137C>G (p.Pro1046Arg)
c.3002C>G (p.Pro1001Arg)
c.1991C>G (p.Pro664Arg)
12g.101760061G>TCA386294646GNPTABc.3218C>A (p.Pro1073Gln)
n.84C>A
c.30C>A
c.3137C>A (p.Pro1046Gln)
c.3002C>A (p.Pro1001Gln)
c.1991C>A (p.Pro664Gln)
12g.101760062G>ACA386294647GNPTABc.3217C>T (p.Pro1073Ser)
n.83C>T
c.29C>T
c.3136C>T (p.Pro1046Ser)
c.3001C>T (p.Pro1001Ser)
c.1990C>T (p.Pro664Ser)
12g.101760062G>CCA386294648GNPTABc.3217C>G (p.Pro1073Ala)
n.83C>G
c.29C>G
c.3136C>G (p.Pro1046Ala)
c.3001C>G (p.Pro1001Ala)
c.1990C>G (p.Pro664Ala)
12g.101760062G>TCA386294649GNPTABc.3217C>A (p.Pro1073Thr)
n.83C>A
c.29C>A
c.3136C>A (p.Pro1046Thr)
c.3001C>A (p.Pro1001Thr)
c.1990C>A (p.Pro664Thr)
12g.101760063T>ACA481318477GNPTABc.3216A>T (p.Pro1072=)
n.82A>T
c.28A>T
c.3135A>T (p.Pro1045=)
c.3000A>T (p.Pro1000=)
c.1989A>T (p.Pro663=)
12g.101760063T>CCA6746232GNPTABc.3216A>G (p.Pro1072=)
n.82A>G
c.28A>G
c.3135A>G (p.Pro1045=)
c.3000A>G (p.Pro1000=)
c.1989A>G (p.Pro663=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101760063T>GCA481318478GNPTABc.3216A>C (p.Pro1072=)
n.82A>C
c.28A>C
c.3135A>C (p.Pro1045=)
c.3000A>C (p.Pro1000=)
c.1989A>C (p.Pro663=)
12g.101760063T=CA2058954215GNPTABc.3216A= (p.Pro1072=)
n.82A=
c.28A=
c.3135A= (p.Pro1045=)
c.3000A= (p.Pro1000=)
c.1989A= (p.Pro663=)
12g.101760063dupCA2695217195GNPTABc.3216dup (p.Pro1073ThrfsTer8)
n.82dup
c.28dup
c.3135dup (p.Pro1046ThrfsTer8)
c.3000dup (p.Pro1001ThrfsTer8)
c.1989dup (p.Pro664ThrfsTer8)
12g.101760064G>ACA386294650GNPTABc.3215C>T (p.Pro1072Leu)
n.81C>T
c.27C>T
c.3134C>T (p.Pro1045Leu)
c.2999C>T (p.Pro1000Leu)
c.1988C>T (p.Pro663Leu)
12g.101760064G>CCA386294651GNPTABc.3215C>G (p.Pro1072Arg)
n.81C>G
c.27C>G
c.3134C>G (p.Pro1045Arg)
c.2999C>G (p.Pro1000Arg)
c.1988C>G (p.Pro663Arg)
12g.101760064G>TCA386294652GNPTABc.3215C>A (p.Pro1072Gln)
n.81C>A
c.27C>A
c.3134C>A (p.Pro1045Gln)
c.2999C>A (p.Pro1000Gln)
c.1988C>A (p.Pro663Gln)
12g.101760065G>ACA386294653GNPTABc.3214C>T (p.Pro1072Ser)
n.80C>T
c.26C>T
c.3133C>T (p.Pro1045Ser)
c.2998C>T (p.Pro1000Ser)
c.1987C>T (p.Pro663Ser)
12g.101760065G>CCA386294654GNPTABc.3214C>G (p.Pro1072Ala)
n.80C>G
c.26C>G
c.3133C>G (p.Pro1045Ala)
c.2998C>G (p.Pro1000Ala)
c.1987C>G (p.Pro663Ala)
 gnomAD v4
12g.101760065G>TCA386294655GNPTABc.3214C>A (p.Pro1072Thr)
n.80C>A
c.26C>A
c.3133C>A (p.Pro1045Thr)
c.2998C>A (p.Pro1000Thr)
c.1987C>A (p.Pro663Thr)
 gnomAD v4
12g.101760066A=CA2058954219GNPTABc.3213T= (p.Ile1071=)
n.79T=
c.25T=
c.3132T= (p.Ile1044=)
c.2997T= (p.Ile999=)
c.1986T= (p.Ile662=)
12g.101760066A>CCA242453089GNPTABc.3213T>G (p.Ile1071Met)
n.79T>G
c.25T>G
c.3132T>G (p.Ile1044Met)
c.2997T>G (p.Ile999Met)
c.1986T>G (p.Ile662Met)
 dbSNP gnomAD v4
12g.101760066A>GCA481318485GNPTABc.3213T>C (p.Ile1071=)
n.79T>C
c.25T>C
c.3132T>C (p.Ile1044=)
c.2997T>C (p.Ile999=)
c.1986T>C (p.Ile662=)
12g.101760066A>TCA481318486GNPTABc.3213T>A (p.Ile1071=)
n.79T>A
c.25T>A
c.3132T>A (p.Ile1044=)
c.2997T>A (p.Ile999=)
c.1986T>A (p.Ile662=)
12g.101760067A=CA2058954223GNPTABc.3212T= (p.Ile1071=)
n.78T=
c.24T=
c.3131T= (p.Ile1044=)
c.2996T= (p.Ile999=)
c.1985T= (p.Ile662=)
12g.101760067A>CCA386294656GNPTABc.3212T>G (p.Ile1071Ser)
n.78T>G
c.24T>G
c.3131T>G (p.Ile1044Ser)
c.2996T>G (p.Ile999Ser)
c.1985T>G (p.Ile662Ser)
12g.101760067A>GCA386294657GNPTABc.3212T>C (p.Ile1071Thr)
n.78T>C
c.24T>C
c.3131T>C (p.Ile1044Thr)
c.2996T>C (p.Ile999Thr)
c.1985T>C (p.Ile662Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.101760067A>TCA386294658GNPTABc.3212T>A (p.Ile1071Asn)
n.78T>A
c.24T>A
c.3131T>A (p.Ile1044Asn)
c.2996T>A (p.Ile999Asn)
c.1985T>A (p.Ile662Asn)
12g.101760068T>ACA386294659GNPTABc.3211A>T (p.Ile1071Phe)
n.77A>T
c.23A>T
c.3130A>T (p.Ile1044Phe)
c.2995A>T (p.Ile999Phe)
c.1984A>T (p.Ile662Phe)
12g.101760068T>CCA386294660GNPTABc.3211A>G (p.Ile1071Val)
n.77A>G
c.23A>G
c.3130A>G (p.Ile1044Val)
c.2995A>G (p.Ile999Val)
c.1984A>G (p.Ile662Val)
 gnomAD v4
12g.101760068T>GCA386294661GNPTABc.3211A>C (p.Ile1071Leu)
n.77A>C
c.23A>C
c.3130A>C (p.Ile1044Leu)
c.2995A>C (p.Ile999Leu)
c.1984A>C (p.Ile662Leu)
12g.101760069A>CCA386294662GNPTABc.3210T>G (p.Asn1070Lys)
n.76T>G
c.22T>G
c.3129T>G (p.Asn1043Lys)
c.2994T>G (p.Asn998Lys)
c.1983T>G (p.Asn661Lys)
12g.101760069A>GCA481318489GNPTABc.3210T>C (p.Asn1070=)
n.76T>C
c.22T>C
c.3129T>C (p.Asn1043=)
c.2994T>C (p.Asn998=)
c.1983T>C (p.Asn661=)
12g.101760069A>TCA386294663GNPTABc.3210T>A (p.Asn1070Lys)
n.76T>A
c.22T>A
c.3129T>A (p.Asn1043Lys)
c.2994T>A (p.Asn998Lys)
c.1983T>A (p.Asn661Lys)
12g.101760070T>ACA386294664GNPTABc.3209A>T (p.Asn1070Ile)
n.75A>T
c.21A>T
c.3128A>T (p.Asn1043Ile)
c.2993A>T (p.Asn998Ile)
c.1982A>T (p.Asn661Ile)
12g.101760070T>CCA386294665GNPTABc.3209A>G (p.Asn1070Ser)
n.75A>G
c.21A>G
c.3128A>G (p.Asn1043Ser)
c.2993A>G (p.Asn998Ser)
c.1982A>G (p.Asn661Ser)
12g.101760070T>GCA6746233GNPTABc.3209A>C (p.Asn1070Thr)
n.75A>C
c.21A>C
c.3128A>C (p.Asn1043Thr)
c.2993A>C (p.Asn998Thr)
c.1982A>C (p.Asn661Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101760070T=CA2058954225GNPTABc.3209A= (p.Asn1070=)
n.75A=
c.21A=
c.3128A= (p.Asn1043=)
c.2993A= (p.Asn998=)
c.1982A= (p.Asn661=)
12g.101760071T>ACA386294668GNPTABc.3208A>T (p.Asn1070Tyr)
n.74A>T
c.20A>T
c.3127A>T (p.Asn1043Tyr)
c.2992A>T (p.Asn998Tyr)
c.1981A>T (p.Asn661Tyr)
12g.101760071T>CCA386294669GNPTABc.3208A>G (p.Asn1070Asp)
n.74A>G
c.20A>G
c.3127A>G (p.Asn1043Asp)
c.2992A>G (p.Asn998Asp)
c.1981A>G (p.Asn661Asp)
12g.101760071T>GCA386294671GNPTABc.3208A>C (p.Asn1070His)
n.74A>C
c.20A>C
c.3127A>C (p.Asn1043His)
c.2992A>C (p.Asn998His)
c.1981A>C (p.Asn661His)
12g.101760072A>CCA386294675GNPTABc.3207T>G (p.Asn1069Lys)
n.73T>G
c.19T>G
c.3126T>G (p.Asn1042Lys)
c.2991T>G (p.Asn997Lys)
c.1980T>G (p.Asn660Lys)
12g.101760072A>GCA481318491GNPTABc.3207T>C (p.Asn1069=)
n.73T>C
c.19T>C
c.3126T>C (p.Asn1042=)
c.2991T>C (p.Asn997=)
c.1980T>C (p.Asn660=)
12g.101760072A>TCA386294673GNPTABc.3207T>A (p.Asn1069Lys)
n.73T>A
c.19T>A
c.3126T>A (p.Asn1042Lys)
c.2991T>A (p.Asn997Lys)
c.1980T>A (p.Asn660Lys)
12g.101760073T>ACA386294680GNPTABc.3206A>T (p.Asn1069Ile)
n.72A>T
c.18A>T
c.3125A>T (p.Asn1042Ile)
c.2990A>T (p.Asn997Ile)
c.1979A>T (p.Asn660Ile)
12g.101760073T>CCA386294683GNPTABc.3206A>G (p.Asn1069Ser)
n.72A>G
c.18A>G
c.3125A>G (p.Asn1042Ser)
c.2990A>G (p.Asn997Ser)
c.1979A>G (p.Asn660Ser)
12g.101760073T>GCA386294682GNPTABc.3206A>C (p.Asn1069Thr)
n.72A>C
c.18A>C
c.3125A>C (p.Asn1042Thr)
c.2990A>C (p.Asn997Thr)
c.1979A>C (p.Asn660Thr)
12g.101760074T>ACA386294686GNPTABc.3205A>T (p.Asn1069Tyr)
n.71A>T
c.17A>T
c.3124A>T (p.Asn1042Tyr)
c.2989A>T (p.Asn997Tyr)
c.1978A>T (p.Asn660Tyr)
12g.101760074T>CCA386294687GNPTABc.3205A>G (p.Asn1069Asp)
n.71A>G
c.17A>G
c.3124A>G (p.Asn1042Asp)
c.2989A>G (p.Asn997Asp)
c.1978A>G (p.Asn660Asp)
12g.101760074T>GCA386294689GNPTABc.3205A>C (p.Asn1069His)
n.71A>C
c.17A>C
c.3124A>C (p.Asn1042His)
c.2989A>C (p.Asn997His)
c.1978A>C (p.Asn660His)
12g.101760075T>ACA481318500GNPTABc.3204A>T (p.Leu1068=)
n.70A>T
c.16A>T
c.3123A>T (p.Leu1041=)
c.2988A>T (p.Leu996=)
c.1977A>T (p.Leu659=)
12g.101760075T>CCA481318498GNPTABc.3204A>G (p.Leu1068=)
n.70A>G
c.16A>G
c.3123A>G (p.Leu1041=)
c.2988A>G (p.Leu996=)
c.1977A>G (p.Leu659=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101760075T>GCA481318499GNPTABc.3204A>C (p.Leu1068=)
n.70A>C
c.16A>C
c.3123A>C (p.Leu1041=)
c.2988A>C (p.Leu996=)
c.1977A>C (p.Leu659=)
12g.101760075T=CA2058954228GNPTABc.3204A= (p.Leu1068=)
n.70A=
c.16A=
c.3123A= (p.Leu1041=)
c.2988A= (p.Leu996=)
c.1977A= (p.Leu659=)
12g.101760076A>CCA386294691GNPTABc.3203T>G (p.Leu1068Arg)
n.69T>G
c.15T>G
c.3122T>G (p.Leu1041Arg)
c.2987T>G (p.Leu996Arg)
c.1976T>G (p.Leu659Arg)
12g.101760076A>GCA386294693GNPTABc.3203T>C (p.Leu1068Pro)
n.69T>C
c.15T>C
c.3122T>C (p.Leu1041Pro)
c.2987T>C (p.Leu996Pro)
c.1976T>C (p.Leu659Pro)
12g.101760076A>TCA386294695GNPTABc.3203T>A (p.Leu1068Gln)
n.69T>A
c.15T>A
c.3122T>A (p.Leu1041Gln)
c.2987T>A (p.Leu996Gln)
c.1976T>A (p.Leu659Gln)
12g.101760077G>ACA481318501GNPTABc.3202C>T (p.Leu1068=)
n.68C>T
c.14C>T
c.3121C>T (p.Leu1041=)
c.2986C>T (p.Leu996=)
c.1975C>T (p.Leu659=)
12g.101760077G>CCA386294697GNPTABc.3202C>G (p.Leu1068Val)
n.68C>G
c.14C>G
c.3121C>G (p.Leu1041Val)
c.2986C>G (p.Leu996Val)
c.1975C>G (p.Leu659Val)
12g.101760077G>TCA386294699GNPTABc.3202C>A (p.Leu1068Ile)
n.68C>A
c.14C>A
c.3121C>A (p.Leu1041Ile)
c.2986C>A (p.Leu996Ile)
c.1975C>A (p.Leu659Ile)
12g.101760078C>ACA386294701GNPTABc.3201G>T (p.Gln1067His)
n.67G>T
c.13G>T
c.3120G>T (p.Gln1040His)
c.2985G>T (p.Gln995His)
c.1974G>T (p.Gln658His)
12g.101760078C>GCA386294703GNPTABc.3201G>C (p.Gln1067His)
n.67G>C
c.13G>C
c.3120G>C (p.Gln1040His)
c.2985G>C (p.Gln995His)
c.1974G>C (p.Gln658His)
12g.101760078C>TCA481318505GNPTABc.3201G>A (p.Gln1067=)
n.67G>A
c.13G>A
c.3120G>A (p.Gln1040=)
c.2985G>A (p.Gln995=)
c.1974G>A (p.Gln658=)
12g.101760079T>ACA386294706GNPTABc.3200A>T (p.Gln1067Leu)
n.66A>T
c.12A>T
c.3119A>T (p.Gln1040Leu)
c.2984A>T (p.Gln995Leu)
c.1973A>T (p.Gln658Leu)
12g.101760079T>CCA386294707GNPTABc.3200A>G (p.Gln1067Arg)
n.66A>G
c.12A>G
c.3119A>G (p.Gln1040Arg)
c.2984A>G (p.Gln995Arg)
c.1973A>G (p.Gln658Arg)
12g.101760079T>GCA386294709GNPTABc.3200A>C (p.Gln1067Pro)
n.66A>C
c.12A>C
c.3119A>C (p.Gln1040Pro)
c.2984A>C (p.Gln995Pro)
c.1973A>C (p.Gln658Pro)
12g.101760080G>ACA386294711GNPTABc.3199C>T (p.Gln1067Ter)
n.65C>T
c.11C>T
c.3118C>T (p.Gln1040Ter)
c.2983C>T (p.Gln995Ter)
c.1972C>T (p.Gln658Ter)
 ClinVar
12g.101760080G>CCA386294715GNPTABc.3199C>G (p.Gln1067Glu)
n.65C>G
c.11C>G
c.3118C>G (p.Gln1040Glu)
c.2983C>G (p.Gln995Glu)
c.1972C>G (p.Gln658Glu)
12g.101760080G>TCA386294713GNPTABc.3199C>A (p.Gln1067Lys)
n.65C>A
c.11C>A
c.3118C>A (p.Gln1040Lys)
c.2983C>A (p.Gln995Lys)
c.1972C>A (p.Gln658Lys)
12g.101760081C>ACA481318507GNPTABc.3198G>T (p.Thr1066=)
n.64G>T
c.10G>T
c.3117G>T (p.Thr1039=)
c.2982G>T (p.Thr994=)
c.1971G>T (p.Thr657=)
12g.101760081C=CA2058954233GNPTABc.3198G= (p.Thr1066=)
n.64G=
c.10G=
c.3117G= (p.Thr1039=)
c.2982G= (p.Thr994=)
c.1971G= (p.Thr657=)
12g.101760081C>GCA481318508GNPTABc.3198G>C (p.Thr1066=)
n.64G>C
c.10G>C
c.3117G>C (p.Thr1039=)
c.2982G>C (p.Thr994=)
c.1971G>C (p.Thr657=)
12g.101760081C>TCA481318509GNPTABc.3198G>A (p.Thr1066=)
n.64G>A
c.10G>A
c.3117G>A (p.Thr1039=)
c.2982G>A (p.Thr994=)
c.1971G>A (p.Thr657=)
 ClinVar dbSNP gnomAD v4
12g.101760082G>ACA6746234GNPTABc.3197C>T (p.Thr1066Met)
n.63C>T
c.9C>T
c.3116C>T (p.Thr1039Met)
c.2981C>T (p.Thr994Met)
c.1970C>T (p.Thr657Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101760082G>CCA386294719GNPTABc.3197C>G (p.Thr1066Arg)
n.63C>G
c.9C>G
c.3116C>G (p.Thr1039Arg)
c.2981C>G (p.Thr994Arg)
c.1970C>G (p.Thr657Arg)
12g.101760082G=CA2058954239GNPTABc.3197C= (p.Thr1066=)
n.63C=
c.9C=
c.3116C= (p.Thr1039=)
c.2981C= (p.Thr994=)
c.1970C= (p.Thr657=)
12g.101760082G>TCA386294720GNPTABc.3197C>A (p.Thr1066Lys)
n.63C>A
c.9C>A
c.3116C>A (p.Thr1039Lys)
c.2981C>A (p.Thr994Lys)
c.1970C>A (p.Thr657Lys)
12g.101760083T>ACA386294723GNPTABc.3196A>T (p.Thr1066Ser)
n.62A>T
c.8A>T
c.3115A>T (p.Thr1039Ser)
c.2980A>T (p.Thr994Ser)
c.1969A>T (p.Thr657Ser)
12g.101760083T>CCA386294724GNPTABc.3196A>G (p.Thr1066Ala)
n.62A>G
c.8A>G
c.3115A>G (p.Thr1039Ala)
c.2980A>G (p.Thr994Ala)
c.1969A>G (p.Thr657Ala)
 gnomAD v4
12g.101760083T>GCA386294726GNPTABc.3196A>C (p.Thr1066Pro)
n.62A>C
c.8A>C
c.3115A>C (p.Thr1039Pro)
c.2980A>C (p.Thr994Pro)
c.1969A>C (p.Thr657Pro)
12g.101760084G>ACA481318514GNPTABc.3195C>T (p.Ile1065=)
n.61C>T
c.7C>T
c.3114C>T (p.Ile1038=)
c.2979C>T (p.Ile993=)
c.1968C>T (p.Ile656=)
 ClinVar gnomAD v4
12g.101760084G>CCA386294728GNPTABc.3195C>G (p.Ile1065Met)
n.61C>G
c.7C>G
c.3114C>G (p.Ile1038Met)
c.2979C>G (p.Ile993Met)
c.1968C>G (p.Ile656Met)
 COSMIC
12g.101760084G>TCA481318515GNPTABc.3195C>A (p.Ile1065=)
n.61C>A
c.7C>A
c.3114C>A (p.Ile1038=)
c.2979C>A (p.Ile993=)
c.1968C>A (p.Ile656=)
12g.101760085A=CA2058954246GNPTABc.3194T= (p.Ile1065=)
n.60T=
c.6T=
c.3113T= (p.Ile1038=)
c.2978T= (p.Ile993=)
c.1967T= (p.Ile656=)
12g.101760085A>CCA386294730GNPTABc.3194T>G (p.Ile1065Ser)
n.60T>G
c.6T>G
c.3113T>G (p.Ile1038Ser)
c.2978T>G (p.Ile993Ser)
c.1967T>G (p.Ile656Ser)
12g.101760085A>GCA6746235GNPTABc.3194T>C (p.Ile1065Thr)
n.60T>C
c.6T>C
c.3113T>C (p.Ile1038Thr)
c.2978T>C (p.Ile993Thr)
c.1967T>C (p.Ile656Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101760085A>TCA386294733GNPTABc.3194T>A (p.Ile1065Asn)
n.60T>A
c.6T>A
c.3113T>A (p.Ile1038Asn)
c.2978T>A (p.Ile993Asn)
c.1967T>A (p.Ile656Asn)
12g.101760086T>ACA386294738GNPTABc.3193A>T (p.Ile1065Phe)
n.59A>T
c.5A>T
c.3112A>T (p.Ile1038Phe)
c.2977A>T (p.Ile993Phe)
c.1966A>T (p.Ile656Phe)
12g.101760086T>CCA6746236GNPTABc.3193A>G (p.Ile1065Val)
n.59A>G
c.5A>G
c.3112A>G (p.Ile1038Val)
c.2977A>G (p.Ile993Val)
c.1966A>G (p.Ile656Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101760086T>GCA386294735GNPTABc.3193A>C (p.Ile1065Leu)
n.59A>C
c.5A>C
c.3112A>C (p.Ile1038Leu)
c.2977A>C (p.Ile993Leu)
c.1966A>C (p.Ile656Leu)
12g.101760086T=CA2058954251GNPTABc.3193A= (p.Ile1065=)
n.59A=
c.5A=
c.3112A= (p.Ile1038=)
c.2977A= (p.Ile993=)
c.1966A= (p.Ile656=)
12g.101760087A>CCA386294740GNPTABc.3192T>G (p.Asp1064Glu)
n.58T>G
c.4T>G
c.3111T>G (p.Asp1037Glu)
c.2976T>G (p.Asp992Glu)
c.1965T>G (p.Asp655Glu)
12g.101760087A>GCA481318520GNPTABc.3192T>C (p.Asp1064=)
n.58T>C
c.4T>C
c.3111T>C (p.Asp1037=)
c.2976T>C (p.Asp992=)
c.1965T>C (p.Asp655=)
 gnomAD v4
12g.101760087A>TCA386294741GNPTABc.3192T>A (p.Asp1064Glu)
n.58T>A
c.4T>A
c.3111T>A (p.Asp1037Glu)
c.2976T>A (p.Asp992Glu)
c.1965T>A (p.Asp655Glu)
12g.101760088T>ACA386294744GNPTABc.3191A>T (p.Asp1064Val)
n.57A>T
c.3A>T
c.3110A>T (p.Asp1037Val)
c.2975A>T (p.Asp992Val)
c.1964A>T (p.Asp655Val)
12g.101760088T>CCA386294746GNPTABc.3191A>G (p.Asp1064Gly)
n.57A>G
c.3A>G
c.3110A>G (p.Asp1037Gly)
c.2975A>G (p.Asp992Gly)
c.1964A>G (p.Asp655Gly)
 dbSNP
12g.101760088T>GCA386294748GNPTABc.3191A>C (p.Asp1064Ala)
n.57A>C
c.3A>C
c.3110A>C (p.Asp1037Ala)
c.2975A>C (p.Asp992Ala)
c.1964A>C (p.Asp655Ala)
12g.101760089C>ACA386294753GNPTABc.3190G>T (p.Asp1064Tyr)
n.56G>T
c.2G>T
c.3109G>T (p.Asp1037Tyr)
c.2974G>T (p.Asp992Tyr)
c.1963G>T (p.Asp655Tyr)
 gnomAD v4
12g.101760089C=CA2058954253GNPTABc.3190G= (p.Asp1064=)
n.56G=
c.2G=
c.3109G= (p.Asp1037=)
c.2974G= (p.Asp992=)
c.1963G= (p.Asp655=)
12g.101760089C>GCA6746237GNPTABc.3190G>C (p.Asp1064His)
n.56G>C
c.2G>C
c.3109G>C (p.Asp1037His)
c.2974G>C (p.Asp992His)
c.1963G>C (p.Asp655His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.101760089C>TCA386294750GNPTABc.3190G>A (p.Asp1064Asn)
n.56G>A
c.2G>A
c.3109G>A (p.Asp1037Asn)
c.2974G>A (p.Asp992Asn)
c.1963G>A (p.Asp655Asn)
12g.101760090A=CA2058954255GNPTABc.3189T= (p.Ala1063=)
n.55T=
c.1T=
c.3108T= (p.Ala1036=)
c.2973T= (p.Ala991=)
c.1962T= (p.Ala654=)
12g.101760090A>CCA481318521GNPTABc.3189T>G (p.Ala1063=)
n.55T>G
c.1T>G
c.3108T>G (p.Ala1036=)
c.2973T>G (p.Ala991=)
c.1962T>G (p.Ala654=)
12g.101760090A>GCA481318522GNPTABc.3189T>C (p.Ala1063=)
n.55T>C
c.1T>C
c.3108T>C (p.Ala1036=)
c.2973T>C (p.Ala991=)
c.1962T>C (p.Ala654=)
 dbSNP
12g.101760090A>TCA481318524GNPTABc.3189T>A (p.Ala1063=)
n.55T>A
c.1T>A
c.3108T>A (p.Ala1036=)
c.2973T>A (p.Ala991=)
c.1962T>A (p.Ala654=)
12g.101760091G>ACA386294754GNPTABc.3188C>T (p.Ala1063Val)
n.54C>T
c.3107C>T (p.Ala1036Val)
c.2972C>T (p.Ala991Val)
c.1961C>T (p.Ala654Val)
12g.101760091G>CCA386294756GNPTABc.3188C>G (p.Ala1063Gly)
n.54C>G
c.3107C>G (p.Ala1036Gly)
c.2972C>G (p.Ala991Gly)
c.1961C>G (p.Ala654Gly)
 gnomAD v4
12g.101760091G>TCA386294758GNPTABc.3188C>A (p.Ala1063Asp)
n.54C>A
c.3107C>A (p.Ala1036Asp)
c.2972C>A (p.Ala991Asp)
c.1961C>A (p.Ala654Asp)
12g.101760092C>ACA386294760GNPTABc.3187G>T (p.Ala1063Ser)
n.53G>T
c.3106G>T (p.Ala1036Ser)
c.2971G>T (p.Ala991Ser)
c.1960G>T (p.Ala654Ser)
12g.101760092C>GCA386294761GNPTABc.3187G>C (p.Ala1063Pro)
n.53G>C
c.3106G>C (p.Ala1036Pro)
c.2971G>C (p.Ala991Pro)
c.1960G>C (p.Ala654Pro)
12g.101760092C>TCA386294763GNPTABc.3187G>A (p.Ala1063Thr)
n.53G>A
c.3106G>A (p.Ala1036Thr)
c.2971G>A (p.Ala991Thr)
c.1960G>A (p.Ala654Thr)
12g.101760093A>CCA481318526GNPTABc.3186T>G (p.Pro1062=)
n.52T>G
c.3105T>G (p.Pro1035=)
c.2970T>G (p.Pro990=)
c.1959T>G (p.Pro653=)
12g.101760093A>GCA481318527GNPTABc.3186T>C (p.Pro1062=)
n.52T>C
c.3105T>C (p.Pro1035=)
c.2970T>C (p.Pro990=)
c.1959T>C (p.Pro653=)
12g.101760093A>TCA481318528GNPTABc.3186T>A (p.Pro1062=)
n.52T>A
c.3105T>A (p.Pro1035=)
c.2970T>A (p.Pro990=)
c.1959T>A (p.Pro653=)
12g.101760094G>ACA386294766GNPTABc.3185C>T (p.Pro1062Leu)
n.51C>T
c.3104C>T (p.Pro1035Leu)
c.2969C>T (p.Pro990Leu)
c.1958C>T (p.Pro653Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101760094G>CCA386294768GNPTABc.3185C>G (p.Pro1062Arg)
n.51C>G
c.3104C>G (p.Pro1035Arg)
c.2969C>G (p.Pro990Arg)
c.1958C>G (p.Pro653Arg)
12g.101760094G=CA2058954258GNPTABc.3185C= (p.Pro1062=)
n.51C=
c.3104C= (p.Pro1035=)
c.2969C= (p.Pro990=)
c.1958C= (p.Pro653=)
12g.101760094G>TCA386294767GNPTABc.3185C>A (p.Pro1062His)
n.51C>A
c.3104C>A (p.Pro1035His)
c.2969C>A (p.Pro990His)
c.1958C>A (p.Pro653His)
12g.101760095G>ACA386294771GNPTABc.3184C>T (p.Pro1062Ser)
n.50C>T
c.3103C>T (p.Pro1035Ser)
c.2968C>T (p.Pro990Ser)
c.1957C>T (p.Pro653Ser)
12g.101760095G>CCA386294772GNPTABc.3184C>G (p.Pro1062Ala)
n.50C>G
c.3103C>G (p.Pro1035Ala)
c.2968C>G (p.Pro990Ala)
c.1957C>G (p.Pro653Ala)
12g.101760095G=CA2058954261GNPTABc.3184C= (p.Pro1062=)
n.50C=
c.3103C= (p.Pro1035=)
c.2968C= (p.Pro990=)
c.1957C= (p.Pro653=)
12g.101760095G>TCA386294774GNPTABc.3184C>A (p.Pro1062Thr)
n.50C>A
c.3103C>A (p.Pro1035Thr)
c.2968C>A (p.Pro990Thr)
c.1957C>A (p.Pro653Thr)
12g.101760095_101760096insCTCTATGGTTTTATCA2058954262GNPTABc.3183_3184insATAAAACCATAGAG (p.Pro1062IlefsTer4)
n.49_50insATAAAACCATAGAG
c.3102_3103insATAAAACCATAGAG (p.Pro1035IlefsTer4)
c.2967_2968insATAAAACCATAGAG (p.Pro990IlefsTer4)
c.1956_1957insATAAAACCATAGAG (p.Pro653IlefsTer4)
 dbSNP
12g.101760096A>CCA481318539GNPTABc.3183T>G (p.Leu1061=)
n.49T>G
c.3102T>G (p.Leu1034=)
c.2967T>G (p.Leu989=)
c.1956T>G (p.Leu652=)
12g.101760096A>GCA481318538GNPTABc.3183T>C (p.Leu1061=)
n.49T>C
c.3102T>C (p.Leu1034=)
c.2967T>C (p.Leu989=)
c.1956T>C (p.Leu652=)
12g.101760096A>TCA481318537GNPTABc.3183T>A (p.Leu1061=)
n.49T>A
c.3102T>A (p.Leu1034=)
c.2967T>A (p.Leu989=)
c.1956T>A (p.Leu652=)
12g.101760097A=CA2058954270GNPTABc.3182T= (p.Leu1061=)
n.48T=
c.3101T= (p.Leu1034=)
c.2966T= (p.Leu989=)
c.1955T= (p.Leu652=)
12g.101760097A>CCA6746238GNPTABc.3182T>G (p.Leu1061Arg)
n.48T>G
c.3101T>G (p.Leu1034Arg)
c.2966T>G (p.Leu989Arg)
c.1955T>G (p.Leu652Arg)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.101760097A>GCA386294777GNPTABc.3182T>C (p.Leu1061Pro)
n.48T>C
c.3101T>C (p.Leu1034Pro)
c.2966T>C (p.Leu989Pro)
c.1955T>C (p.Leu652Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101760097A>TCA386294779GNPTABc.3182T>A (p.Leu1061His)
n.48T>A
c.3101T>A (p.Leu1034His)
c.2966T>A (p.Leu989His)
c.1955T>A (p.Leu652His)
 dbSNP
12g.101760098G>ACA242453143GNPTABc.3181C>T (p.Leu1061Phe)
n.47C>T
c.3100C>T (p.Leu1034Phe)
c.2965C>T (p.Leu989Phe)
c.1954C>T (p.Leu652Phe)
 dbSNP gnomAD v4
12g.101760098G>CCA386294780GNPTABc.3181C>G (p.Leu1061Val)
n.47C>G
c.3100C>G (p.Leu1034Val)
c.2965C>G (p.Leu989Val)
c.1954C>G (p.Leu652Val)
 gnomAD v4
12g.101760098G=CA2058954276GNPTABc.3181C= (p.Leu1061=)
n.47C=
c.3100C= (p.Leu1034=)
c.2965C= (p.Leu989=)
c.1954C= (p.Leu652=)
12g.101760098G>TCA386294782GNPTABc.3181C>A (p.Leu1061Ile)
n.47C>A
c.3100C>A (p.Leu1034Ile)
c.2965C>A (p.Leu989Ile)
c.1954C>A (p.Leu652Ile)
12g.101760099C>ACA386294785GNPTABc.3180G>T (p.Met1060Ile)
n.46G>T
c.3099G>T (p.Met1033Ile)
c.2964G>T (p.Met988Ile)
c.1953G>T (p.Met651Ile)
12g.101760099C=CA2058954279GNPTABc.3180G= (p.Met1060=)
n.46G=
c.3099G= (p.Met1033=)
c.2964G= (p.Met988=)
c.1953G= (p.Met651=)
12g.101760099C>GCA386294786GNPTABc.3180G>C (p.Met1060Ile)
n.46G>C
c.3099G>C (p.Met1033Ile)
c.2964G>C (p.Met988Ile)
c.1953G>C (p.Met651Ile)
 dbSNP gnomAD v3 gnomAD v4
12g.101760099C>TCA386294788GNPTABc.3180G>A (p.Met1060Ile)
n.46G>A
c.3099G>A (p.Met1033Ile)
c.2964G>A (p.Met988Ile)
c.1953G>A (p.Met651Ile)
 dbSNP gnomAD v3 gnomAD v4
12g.101760100A=CA2058954281GNPTABc.3179T= (p.Met1060=)
n.45T=
c.3098T= (p.Met1033=)
c.2963T= (p.Met988=)
c.1952T= (p.Met651=)
12g.101760100A>CCA386294794GNPTABc.3179T>G (p.Met1060Arg)
n.45T>G
c.3098T>G (p.Met1033Arg)
c.2963T>G (p.Met988Arg)
c.1952T>G (p.Met651Arg)
 dbSNP
12g.101760100A>GCA386294792GNPTABc.3179T>C (p.Met1060Thr)
n.45T>C
c.3098T>C (p.Met1033Thr)
c.2963T>C (p.Met988Thr)
c.1952T>C (p.Met651Thr)
12g.101760100A>TCA386294791GNPTABc.3179T>A (p.Met1060Lys)
n.45T>A
c.3098T>A (p.Met1033Lys)
c.2963T>A (p.Met988Lys)
c.1952T>A (p.Met651Lys)
12g.101760101T>ACA386294798GNPTABc.3178A>T (p.Met1060Leu)
n.44A>T
c.3097A>T (p.Met1033Leu)
c.2962A>T (p.Met988Leu)
c.1951A>T (p.Met651Leu)
12g.101760101T>CCA386294797GNPTABc.3178A>G (p.Met1060Val)
n.44A>G
c.3097A>G (p.Met1033Val)
c.2962A>G (p.Met988Val)
c.1951A>G (p.Met651Val)
 gnomAD v4
12g.101760101T>GCA386294800GNPTABc.3178A>C (p.Met1060Leu)
n.44A>C
c.3097A>C (p.Met1033Leu)
c.2962A>C (p.Met988Leu)
c.1951A>C (p.Met651Leu)
12g.101760102T>ACA386294802GNPTABc.3177A>T (p.Lys1059Asn)
n.43A>T
c.3096A>T (p.Lys1032Asn)
c.2961A>T (p.Lys987Asn)
c.1950A>T (p.Lys650Asn)
12g.101760102T>CCA481318542GNPTABc.3177A>G (p.Lys1059=)
n.43A>G
c.3096A>G (p.Lys1032=)
c.2961A>G (p.Lys987=)
c.1950A>G (p.Lys650=)
12g.101760102T>GCA386294804GNPTABc.3177A>C (p.Lys1059Asn)
n.43A>C
c.3096A>C (p.Lys1032Asn)
c.2961A>C (p.Lys987Asn)
c.1950A>C (p.Lys650Asn)
12g.101760103T>ACA386294806GNPTABc.3176A>T (p.Lys1059Ile)
n.42A>T
c.3095A>T (p.Lys1032Ile)
c.2960A>T (p.Lys987Ile)
c.1949A>T (p.Lys650Ile)
12g.101760103T>CCA386294809GNPTABc.3176A>G (p.Lys1059Arg)
n.42A>G
c.3095A>G (p.Lys1032Arg)
c.2960A>G (p.Lys987Arg)
c.1949A>G (p.Lys650Arg)
12g.101760103T>GCA386294808GNPTABc.3176A>C (p.Lys1059Thr)
n.42A>C
c.3095A>C (p.Lys1032Thr)
c.2960A>C (p.Lys987Thr)
c.1949A>C (p.Lys650Thr)
12g.101760104T>ACA386294812GNPTABc.3175A>T (p.Lys1059Ter)
n.41A>T
c.3094A>T (p.Lys1032Ter)
c.2959A>T (p.Lys987Ter)
c.1948A>T (p.Lys650Ter)
12g.101760104T>CCA386294813GNPTABc.3175A>G (p.Lys1059Glu)
n.41A>G
c.3094A>G (p.Lys1032Glu)
c.2959A>G (p.Lys987Glu)
c.1948A>G (p.Lys650Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101760104T>GCA386294815GNPTABc.3175A>C (p.Lys1059Gln)
n.41A>C
c.3094A>C (p.Lys1032Gln)
c.2959A>C (p.Lys987Gln)
c.1948A>C (p.Lys650Gln)
12g.101760104T=CA2058954284GNPTABc.3175A= (p.Lys1059=)
n.41A=
c.3094A= (p.Lys1032=)
c.2959A= (p.Lys987=)
c.1948A= (p.Lys650=)
12g.101760105T>ACA481318543GNPTABc.3174A>T (p.Ser1058=)
n.40A>T
c.3093A>T (p.Ser1031=)
c.2958A>T (p.Ser986=)
c.1947A>T (p.Ser649=)
12g.101760105T>CCA6746239GNPTABc.3174A>G (p.Ser1058=)
n.40A>G
c.3093A>G (p.Ser1031=)
c.2958A>G (p.Ser986=)
c.1947A>G (p.Ser649=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101760105T>GCA481318544GNPTABc.3174A>C (p.Ser1058=)
n.40A>C
c.3093A>C (p.Ser1031=)
c.2958A>C (p.Ser986=)
c.1947A>C (p.Ser649=)
12g.101760105T=CA2058954287GNPTABc.3174A= (p.Ser1058=)
n.40A=
c.3093A= (p.Ser1031=)
c.2958A= (p.Ser986=)
c.1947A= (p.Ser649=)
12g.101760106G>ACA386294817GNPTABc.3173C>T (p.Ser1058Leu)
n.39C>T
c.3092C>T (p.Ser1031Leu)
c.2957C>T (p.Ser986Leu)
c.1946C>T (p.Ser649Leu)
 dbSNP
12g.101760106G>CCA340011GNPTABc.3173C>G (p.Ser1058Ter)
n.39C>G
c.3092C>G (p.Ser1031Ter)
c.2957C>G (p.Ser986Ter)
c.1946C>G (p.Ser649Ter)
 ClinVar dbSNP
12g.101760106G=CA2058954295GNPTABc.3173C= (p.Ser1058=)
n.39C=
c.3092C= (p.Ser1031=)
c.2957C= (p.Ser986=)
c.1946C= (p.Ser649=)
12g.101760106G>TCA386294820GNPTABc.3173C>A (p.Ser1058Ter)
n.39C>A
c.3092C>A (p.Ser1031Ter)
c.2957C>A (p.Ser986Ter)
c.1946C>A (p.Ser649Ter)
12g.101760106_101760107delinsGACA2058954297GNPTABc.3172_3173delinsTC (p.Ser1058=)
n.38_39delinsTC
c.3091_3092delinsTC (p.Ser1031=)
c.2956_2957delinsTC (p.Ser986=)
c.1945_1946delinsTC (p.Ser649=)
12g.101760107delCA6746240GNPTABc.3172del (p.Ser1058GlnfsTer11)
n.38del
c.3091del (p.Ser1031GlnfsTer11)
c.2956del (p.Ser986GlnfsTer11)
c.1945del (p.Ser649GlnfsTer11)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101760107A>CCA386294823GNPTABc.3172T>G (p.Ser1058Ala)
n.38T>G
c.3091T>G (p.Ser1031Ala)
c.2956T>G (p.Ser986Ala)
c.1945T>G (p.Ser649Ala)
12g.101760107A>GCA386294824GNPTABc.3172T>C (p.Ser1058Pro)
n.38T>C
c.3091T>C (p.Ser1031Pro)
c.2956T>C (p.Ser986Pro)
c.1945T>C (p.Ser649Pro)
 gnomAD v4
12g.101760107A>TCA386294826GNPTABc.3172T>A (p.Ser1058Thr)
n.38T>A
c.3091T>A (p.Ser1031Thr)
c.2956T>A (p.Ser986Thr)
c.1945T>A (p.Ser649Thr)
12g.101760111_101760121delCA2695217196GNPTABc.3162_3172del (p.Ile1055LysfsTer6)
n.28_38del
c.3081_3091del (p.Ile1028LysfsTer6)
c.2946_2956del (p.Ile983LysfsTer6)
c.1935_1945del (p.Ile646LysfsTer6)
12g.101760108G>ACA481318550GNPTABc.3171C>T (p.Cys1057=)
n.37C>T
c.3090C>T (p.Cys1030=)
c.2955C>T (p.Cys985=)
c.1944C>T (p.Cys648=)
 gnomAD v4
12g.101760108G>CCA386294829GNPTABc.3171C>G (p.Cys1057Trp)
n.37C>G
c.3090C>G (p.Cys1030Trp)
c.2955C>G (p.Cys985Trp)
c.1944C>G (p.Cys648Trp)
12g.101760108G>TCA386294830GNPTABc.3171C>A (p.Cys1057Ter)
n.37C>A
c.3090C>A (p.Cys1030Ter)
c.2955C>A (p.Cys985Ter)
c.1944C>A (p.Cys648Ter)
12g.101760109C>ACA386294831GNPTABc.3170G>T (p.Cys1057Phe)
n.36G>T
c.3089G>T (p.Cys1030Phe)
c.2954G>T (p.Cys985Phe)
c.1943G>T (p.Cys648Phe)
12g.101760109C>GCA386294835GNPTABc.3170G>C (p.Cys1057Ser)
n.36G>C
c.3089G>C (p.Cys1030Ser)
c.2954G>C (p.Cys985Ser)
c.1943G>C (p.Cys648Ser)
12g.101760109C>TCA386294833GNPTABc.3170G>A (p.Cys1057Tyr)
n.36G>A
c.3089G>A (p.Cys1030Tyr)
c.2954G>A (p.Cys985Tyr)
c.1943G>A (p.Cys648Tyr)
12g.101760110A=CA2058954303GNPTABc.3169T= (p.Cys1057=)
n.35T=
c.3088T= (p.Cys1030=)
c.2953T= (p.Cys985=)
c.1942T= (p.Cys648=)
12g.101760110A>CCA386294837GNPTABc.3169T>G (p.Cys1057Gly)
n.35T>G
c.3088T>G (p.Cys1030Gly)
c.2953T>G (p.Cys985Gly)
c.1942T>G (p.Cys648Gly)
12g.101760110A>GCA386294839GNPTABc.3169T>C (p.Cys1057Arg)
n.35T>C
c.3088T>C (p.Cys1030Arg)
c.2953T>C (p.Cys985Arg)
c.1942T>C (p.Cys648Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.101760110A>TCA386294841GNPTABc.3169T>A (p.Cys1057Ser)
n.35T>A
c.3088T>A (p.Cys1030Ser)
c.2953T>A (p.Cys985Ser)
c.1942T>A (p.Cys648Ser)
12g.101760111A=CA2058954305GNPTABc.3168T= (p.Asn1056=)
n.34T=
c.3087T= (p.Asn1029=)
c.2952T= (p.Asn984=)
c.1941T= (p.Asn647=)
12g.101760111A>CCA386294842GNPTABc.3168T>G (p.Asn1056Lys)
n.34T>G
c.3087T>G (p.Asn1029Lys)
c.2952T>G (p.Asn984Lys)
c.1941T>G (p.Asn647Lys)
 dbSNP
12g.101760111A>GCA481318552GNPTABc.3168T>C (p.Asn1056=)
n.34T>C
c.3087T>C (p.Asn1029=)
c.2952T>C (p.Asn984=)
c.1941T>C (p.Asn647=)
 COSMIC
12g.101760111A>TCA386294844GNPTABc.3168T>A (p.Asn1056Lys)
n.34T>A
c.3087T>A (p.Asn1029Lys)
c.2952T>A (p.Asn984Lys)
c.1941T>A (p.Asn647Lys)
12g.101760114_101760117delCA2580085659GNPTABc.3165_3168del (p.Asn1056AlafsTer12)
n.31_34del
c.3084_3087del (p.Asn1029AlafsTer12)
c.2949_2952del (p.Asn984AlafsTer12)
c.1938_1941del (p.Asn647AlafsTer12)
 ClinVar
12g.101760112T>ACA386294846GNPTABc.3167A>T (p.Asn1056Ile)
n.33A>T
c.3086A>T (p.Asn1029Ile)
c.2951A>T (p.Asn984Ile)
c.1940A>T (p.Asn647Ile)
12g.101760112T>CCA386294849GNPTABc.3167A>G (p.Asn1056Ser)
n.33A>G
c.3086A>G (p.Asn1029Ser)
c.2951A>G (p.Asn984Ser)
c.1940A>G (p.Asn647Ser)
12g.101760112T>GCA386294850GNPTABc.3167A>C (p.Asn1056Thr)
n.33A>C
c.3086A>C (p.Asn1029Thr)
c.2951A>C (p.Asn984Thr)
c.1940A>C (p.Asn647Thr)
12g.101760113T>ACA6746241GNPTABc.3166A>T (p.Asn1056Tyr)
n.32A>T
c.3085A>T (p.Asn1029Tyr)
c.2950A>T (p.Asn984Tyr)
c.1939A>T (p.Asn647Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101760113T>CCA386294852GNPTABc.3166A>G (p.Asn1056Asp)
n.32A>G
c.3085A>G (p.Asn1029Asp)
c.2950A>G (p.Asn984Asp)
c.1939A>G (p.Asn647Asp)
12g.101760113T>GCA386294854GNPTABc.3166A>C (p.Asn1056His)
n.32A>C
c.3085A>C (p.Asn1029His)
c.2950A>C (p.Asn984His)
c.1939A>C (p.Asn647His)
 dbSNP
12g.101760113T=CA2058954307GNPTABc.3166A= (p.Asn1056=)
n.32A=
c.3085A= (p.Asn1029=)
c.2950A= (p.Asn984=)
c.1939A= (p.Asn647=)
12g.101760114T>ACA481318555GNPTABc.3165A>T (p.Ile1055=)
n.31A>T
c.3084A>T (p.Ile1028=)
c.2949A>T (p.Ile983=)
c.1938A>T (p.Ile646=)
12g.101760114T>CCA386294856GNPTABc.3165A>G (p.Ile1055Met)
n.31A>G
c.3084A>G (p.Ile1028Met)
c.2949A>G (p.Ile983Met)
c.1938A>G (p.Ile646Met)
12g.101760114T>GCA242453158GNPTABc.3165A>C (p.Ile1055=)
n.31A>C
c.3084A>C (p.Ile1028=)
c.2949A>C (p.Ile983=)
c.1938A>C (p.Ile646=)
 dbSNP
12g.101760114T=CA2058954310GNPTABc.3165A= (p.Ile1055=)
n.31A=
c.3084A= (p.Ile1028=)
c.2949A= (p.Ile983=)
c.1938A= (p.Ile646=)
12g.101760115A>CCA386294861GNPTABc.3164T>G (p.Ile1055Arg)
n.30T>G
c.3083T>G (p.Ile1028Arg)
c.2948T>G (p.Ile983Arg)
c.1937T>G (p.Ile646Arg)
12g.101760115A>GCA386294858GNPTABc.3164T>C (p.Ile1055Thr)
n.30T>C
c.3083T>C (p.Ile1028Thr)
c.2948T>C (p.Ile983Thr)
c.1937T>C (p.Ile646Thr)
12g.101760115A>TCA386294859GNPTABc.3164T>A (p.Ile1055Lys)
n.30T>A
c.3083T>A (p.Ile1028Lys)
c.2948T>A (p.Ile983Lys)
c.1937T>A (p.Ile646Lys)
12g.101760116T>ACA386294863GNPTABc.3163A>T (p.Ile1055Leu)
n.29A>T
c.3082A>T (p.Ile1028Leu)
c.2947A>T (p.Ile983Leu)
c.1936A>T (p.Ile646Leu)
12g.101760116T>CCA386294865GNPTABc.3163A>G (p.Ile1055Val)
n.29A>G
c.3082A>G (p.Ile1028Val)
c.2947A>G (p.Ile983Val)
c.1936A>G (p.Ile646Val)
12g.101760116T>GCA386294866GNPTABc.3163A>C (p.Ile1055Leu)
n.29A>C
c.3082A>C (p.Ile1028Leu)
c.2947A>C (p.Ile983Leu)
c.1936A>C (p.Ile646Leu)
 gnomAD v4
12g.101760117T>ACA481318561GNPTABc.3162A>T (p.Leu1054=)
n.28A>T
c.3081A>T (p.Leu1027=)
c.2946A>T (p.Leu982=)
c.1935A>T (p.Leu645=)
12g.101760117T>CCA481318562GNPTABc.3162A>G (p.Leu1054=)
n.28A>G
c.3081A>G (p.Leu1027=)
c.2946A>G (p.Leu982=)
c.1935A>G (p.Leu645=)
12g.101760117T>GCA481318560GNPTABc.3162A>C (p.Leu1054=)
n.28A>C
c.3081A>C (p.Leu1027=)
c.2946A>C (p.Leu982=)
c.1935A>C (p.Leu645=)
12g.101760118A>CCA386294868GNPTABc.3161T>G (p.Leu1054Arg)
n.27T>G
c.3080T>G (p.Leu1027Arg)
c.2945T>G (p.Leu982Arg)
c.1934T>G (p.Leu645Arg)
12g.101760118A>GCA386294870GNPTABc.3161T>C (p.Leu1054Pro)
n.27T>C
c.3080T>C (p.Leu1027Pro)
c.2945T>C (p.Leu982Pro)
c.1934T>C (p.Leu645Pro)
12g.101760118A>TCA386294872GNPTABc.3161T>A (p.Leu1054Gln)
n.27T>A
c.3080T>A (p.Leu1027Gln)
c.2945T>A (p.Leu982Gln)
c.1934T>A (p.Leu645Gln)
 gnomAD v4
12g.101760119G>ACA481318563GNPTABc.3160C>T (p.Leu1054=)
n.26C>T
c.3079C>T (p.Leu1027=)
c.2944C>T (p.Leu982=)
c.1933C>T (p.Leu645=)
12g.101760119G>CCA343391GNPTABc.3160C>G (p.Leu1054Val)
n.26C>G
c.3079C>G (p.Leu1027Val)
c.2944C>G (p.Leu982Val)
c.1933C>G (p.Leu645Val)
 ClinVar dbSNP gnomAD v4
12g.101760119G=CA2058954317GNPTABc.3160C= (p.Leu1054=)
n.26C=
c.3079C= (p.Leu1027=)
c.2944C= (p.Leu982=)
c.1933C= (p.Leu645=)
12g.101760119G>TCA386294875GNPTABc.3160C>A (p.Leu1054Ile)
n.26C>A
c.3079C>A (p.Leu1027Ile)
c.2944C>A (p.Leu982Ile)
c.1933C>A (p.Leu645Ile)
 gnomAD v4
12g.101760120C>ACA386294878GNPTABc.3159G>T (p.Met1053Ile)
n.25G>T
c.3078G>T (p.Met1026Ile)
c.2943G>T (p.Met981Ile)
c.1932G>T (p.Met644Ile)
12g.101760120C=CA2058954321GNPTABc.3159G= (p.Met1053=)
n.25G=
c.3078G= (p.Met1026=)
c.2943G= (p.Met981=)
c.1932G= (p.Met644=)
12g.101760120C>GCA242453168GNPTABc.3159G>C (p.Met1053Ile)
n.25G>C
c.3078G>C (p.Met1026Ile)
c.2943G>C (p.Met981Ile)
c.1932G>C (p.Met644Ile)
 dbSNP gnomAD v4
12g.101760120C>TCA386294880GNPTABc.3159G>A (p.Met1053Ile)
n.25G>A
c.3078G>A (p.Met1026Ile)
c.2943G>A (p.Met981Ile)
c.1932G>A (p.Met644Ile)
12g.101760120dupCA2740092549GNPTABc.3159dup (p.Leu1054AlafsTer11)
n.25dup
c.3078dup (p.Leu1027AlafsTer11)
c.2943dup (p.Leu982AlafsTer11)
c.1932dup (p.Leu645AlafsTer11)
 ClinVar
12g.101760121A=CA2058954323GNPTABc.3158T= (p.Met1053=)
n.24T=
c.3077T= (p.Met1026=)
c.2942T= (p.Met981=)
c.1931T= (p.Met644=)
12g.101760121A>CCA386294884GNPTABc.3158T>G (p.Met1053Arg)
n.24T>G
c.3077T>G (p.Met1026Arg)
c.2942T>G (p.Met981Arg)
c.1931T>G (p.Met644Arg)
12g.101760121A>GCA6746242GNPTABc.3158T>C (p.Met1053Thr)
n.24T>C
c.3077T>C (p.Met1026Thr)
c.2942T>C (p.Met981Thr)
c.1931T>C (p.Met644Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101760121A>TCA386294882GNPTABc.3158T>A (p.Met1053Lys)
n.24T>A
c.3077T>A (p.Met1026Lys)
c.2942T>A (p.Met981Lys)
c.1931T>A (p.Met644Lys)
 dbSNP
12g.101760122T>ACA386294886GNPTABc.3157A>T (p.Met1053Leu)
n.23A>T
c.3076A>T (p.Met1026Leu)
c.2941A>T (p.Met981Leu)
c.1930A>T (p.Met644Leu)
 gnomAD v4
12g.101760122T>CCA6746243GNPTABc.3157A>G (p.Met1053Val)
n.23A>G
c.3076A>G (p.Met1026Val)
c.2941A>G (p.Met981Val)
c.1930A>G (p.Met644Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101760122T>GCA386294888GNPTABc.3157A>C (p.Met1053Leu)
n.23A>C
c.3076A>C (p.Met1026Leu)
c.2941A>C (p.Met981Leu)
c.1930A>C (p.Met644Leu)
12g.101760122T=CA2058954325GNPTABc.3157A= (p.Met1053=)
n.23A=
c.3076A= (p.Met1026=)
c.2941A= (p.Met981=)
c.1930A= (p.Met644=)
12g.101760125_101760126dupCA2620428020GNPTABc.3156_3157dup (p.Met1053ThrfsTer3)
n.22_23dup
c.3075_3076dup (p.Met1026ThrfsTer3)
c.2940_2941dup (p.Met981ThrfsTer3)
c.1929_1930dup (p.Met644ThrfsTer3)
 gnomAD v4
12g.101760123G>ACA6746244GNPTABc.3156C>T (p.His1052=)
n.22C>T
c.3075C>T (p.His1025=)
c.2940C>T (p.His980=)
c.1929C>T (p.His643=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101760123G>CCA386294891GNPTABc.3156C>G (p.His1052Gln)
n.22C>G
c.3075C>G (p.His1025Gln)
c.2940C>G (p.His980Gln)
c.1929C>G (p.His643Gln)
12g.101760123G=CA2058954328GNPTABc.3156C= (p.His1052=)
n.22C=
c.3075C= (p.His1025=)
c.2940C= (p.His980=)
c.1929C= (p.His643=)
12g.101760123G>TCA386294893GNPTABc.3156C>A (p.His1052Gln)
n.22C>A
c.3075C>A (p.His1025Gln)
c.2940C>A (p.His980Gln)
c.1929C>A (p.His643Gln)
12g.101760124T>ACA386294895GNPTABc.3155A>T (p.His1052Leu)
n.21A>T
c.3074A>T (p.His1025Leu)
c.2939A>T (p.His980Leu)
c.1928A>T (p.His643Leu)
12g.101760124T>CCA6746245GNPTABc.3155A>G (p.His1052Arg)
n.21A>G
c.3074A>G (p.His1025Arg)
c.2939A>G (p.His980Arg)
c.1928A>G (p.His643Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101760124T>GCA386294898GNPTABc.3155A>C (p.His1052Pro)
n.21A>C
c.3074A>C (p.His1025Pro)
c.2939A>C (p.His980Pro)
c.1928A>C (p.His643Pro)
12g.101760124T=CA2058954333GNPTABc.3155A= (p.His1052=)
n.21A=
c.3074A= (p.His1025=)
c.2939A= (p.His980=)
c.1928A= (p.His643=)
12g.101760125G>ACA386294901GNPTABc.3154C>T (p.His1052Tyr)
n.20C>T
c.3073C>T (p.His1025Tyr)
c.2938C>T (p.His980Tyr)
c.1927C>T (p.His643Tyr)
12g.101760125G>CCA386294902GNPTABc.3154C>G (p.His1052Asp)
n.20C>G
c.3073C>G (p.His1025Asp)
c.2938C>G (p.His980Asp)
c.1927C>G (p.His643Asp)
12g.101760125G>TCA386294904GNPTABc.3154C>A (p.His1052Asn)
n.20C>A
c.3073C>A (p.His1025Asn)
c.2938C>A (p.His980Asn)
c.1927C>A (p.His643Asn)
 gnomAD v4
12g.101760126T>ACA386294905GNPTABc.3153A>T (p.Glu1051Asp)
n.19A>T
c.3072A>T (p.Glu1024Asp)
c.2937A>T (p.Glu979Asp)
c.1926A>T (p.Glu642Asp)
12g.101760126T>CCA481318570GNPTABc.3153A>G (p.Glu1051=)
n.19A>G
c.3072A>G (p.Glu1024=)
c.2937A>G (p.Glu979=)
c.1926A>G (p.Glu642=)
 ClinVar
12g.101760126T>GCA386294907GNPTABc.3153A>C (p.Glu1051Asp)
n.19A>C
c.3072A>C (p.Glu1024Asp)
c.2937A>C (p.Glu979Asp)
c.1926A>C (p.Glu642Asp)
12g.101760127T>ACA386294909GNPTABc.3152A>T (p.Glu1051Val)
n.18A>T
c.3071A>T (p.Glu1024Val)
c.2936A>T (p.Glu979Val)
c.1925A>T (p.Glu642Val)
12g.101760127T>CCA386294913GNPTABc.3152A>G (p.Glu1051Gly)
n.18A>G
c.3071A>G (p.Glu1024Gly)
c.2936A>G (p.Glu979Gly)
c.1925A>G (p.Glu642Gly)
 gnomAD v4
12g.101760127T>GCA386294911GNPTABc.3152A>C (p.Glu1051Ala)
n.18A>C
c.3071A>C (p.Glu1024Ala)
c.2936A>C (p.Glu979Ala)
c.1925A>C (p.Glu642Ala)
12g.101760128C>ACA386294915GNPTABc.3151G>T (p.Glu1051Ter)
n.17G>T
c.3070G>T (p.Glu1024Ter)
c.2935G>T (p.Glu979Ter)
c.1924G>T (p.Glu642Ter)
12g.101760128C>GCA386294917GNPTABc.3151G>C (p.Glu1051Gln)
n.17G>C
c.3070G>C (p.Glu1024Gln)
c.2935G>C (p.Glu979Gln)
c.1924G>C (p.Glu642Gln)
12g.101760128C>TCA386294919GNPTABc.3151G>A (p.Glu1051Lys)
n.17G>A
c.3070G>A (p.Glu1024Lys)
c.2935G>A (p.Glu979Lys)
c.1924G>A (p.Glu642Lys)
 gnomAD v4
12g.101760129delCA2620428054GNPTABc.3151del (p.Glu1051AsnfsTer4)
n.17del
c.3070del (p.Glu1024AsnfsTer4)
c.2935del (p.Glu979AsnfsTer4)
c.1924del (p.Glu642AsnfsTer4)
 gnomAD v4
12g.101760129C>ACA481318574GNPTABc.3150G>T (p.Leu1050=)
n.16G>T
c.3069G>T (p.Leu1023=)
c.2934G>T (p.Leu978=)
c.1923G>T (p.Leu641=)
12g.101760129C>GCA481318576GNPTABc.3150G>C (p.Leu1050=)
n.16G>C
c.3069G>C (p.Leu1023=)
c.2934G>C (p.Leu978=)
c.1923G>C (p.Leu641=)
12g.101760129C>TCA481318577GNPTABc.3150G>A (p.Leu1050=)
n.16G>A
c.3069G>A (p.Leu1023=)
c.2934G>A (p.Leu978=)
c.1923G>A (p.Leu641=)
 ClinVar dbSNP
12g.101760129_101760130delinsCACA2058954336GNPTABc.3149_3150delinsTG (p.Leu1050=)
n.15_16delinsTG
c.3068_3069delinsTG (p.Leu1023=)
c.2933_2934delinsTG (p.Leu978=)
c.1922_1923delinsTG (p.Leu641=)
12g.101760130delCA6746246GNPTABc.3149del (p.Leu1050ArgfsTer5)
n.15del
c.3068del (p.Leu1023ArgfsTer5)
c.2933del (p.Leu978ArgfsTer5)
c.1922del (p.Leu641ArgfsTer5)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.101760130A=CA2058954340GNPTABc.3149T= (p.Leu1050=)
n.15T=
c.3068T= (p.Leu1023=)
c.2933T= (p.Leu978=)
c.1922T= (p.Leu641=)
12g.101760130A>CCA386294921GNPTABc.3149T>G (p.Leu1050Arg)
n.15T>G
c.3068T>G (p.Leu1023Arg)
c.2933T>G (p.Leu978Arg)
c.1922T>G (p.Leu641Arg)
12g.101760130A>GCA6746247GNPTABc.3149T>C (p.Leu1050Pro)
n.15T>C
c.3068T>C (p.Leu1023Pro)
c.2933T>C (p.Leu978Pro)
c.1922T>C (p.Leu641Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101760130A>TCA386294924GNPTABc.3149T>A (p.Leu1050Gln)
n.15T>A
c.3068T>A (p.Leu1023Gln)
c.2933T>A (p.Leu978Gln)
c.1922T>A (p.Leu641Gln)
12g.101760131G>ACA481318580GNPTABc.3148C>T (p.Leu1050=)
n.14C>T
c.3067C>T (p.Leu1023=)
c.2932C>T (p.Leu978=)
c.1921C>T (p.Leu641=)
 ClinVar
12g.101760131G>CCA386294926GNPTABc.3148C>G (p.Leu1050Val)
n.14C>G
c.3067C>G (p.Leu1023Val)
c.2932C>G (p.Leu978Val)
c.1921C>G (p.Leu641Val)
12g.101760131G=CA2058954343GNPTABc.3148C= (p.Leu1050=)
n.14C=
c.3067C= (p.Leu1023=)
c.2932C= (p.Leu978=)
c.1921C= (p.Leu641=)
12g.101760131G>TCA386294928GNPTABc.3148C>A (p.Leu1050Met)
n.14C>A
c.3067C>A (p.Leu1023Met)
c.2932C>A (p.Leu978Met)
c.1921C>A (p.Leu641Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101760132A>CCA481318585GNPTABc.3147T>G (p.Gly1049=)
n.13T>G
c.3066T>G (p.Gly1022=)
c.2931T>G (p.Gly977=)
c.1920T>G (p.Gly640=)
12g.101760132A>GCA481318586GNPTABc.3147T>C (p.Gly1049=)
n.13T>C
c.3066T>C (p.Gly1022=)
c.2931T>C (p.Gly977=)
c.1920T>C (p.Gly640=)
 ClinVar dbSNP
12g.101760132A>TCA481318587GNPTABc.3147T>A (p.Gly1049=)
n.13T>A
c.3066T>A (p.Gly1022=)
c.2931T>A (p.Gly977=)
c.1920T>A (p.Gly640=)
 ClinVar dbSNP
12g.101760133C>ACA386294929GNPTABc.3146G>T (p.Gly1049Val)
n.12G>T
c.3065G>T (p.Gly1022Val)
c.2930G>T (p.Gly977Val)
c.1919G>T (p.Gly640Val)
12g.101760133C=CA2058954347GNPTABc.3146G= (p.Gly1049=)
n.12G=
c.3065G= (p.Gly1022=)
c.2930G= (p.Gly977=)
c.1919G= (p.Gly640=)
12g.101760133C>GCA386294931GNPTABc.3146G>C (p.Gly1049Ala)
n.12G>C
c.3065G>C (p.Gly1022Ala)
c.2930G>C (p.Gly977Ala)
c.1919G>C (p.Gly640Ala)
12g.101760133C>TCA386294933GNPTABc.3146G>A (p.Gly1049Asp)
n.12G>A
c.3065G>A (p.Gly1022Asp)
c.2930G>A (p.Gly977Asp)
c.1919G>A (p.Gly640Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101760133_101760134insGCA343074GNPTABc.3145_3146insC (p.Gly1049AlafsTer16)
n.11_12insC
c.3064_3065insC (p.Gly1022AlafsTer16)
c.2929_2930insC (p.Gly977AlafsTer16)
c.1918_1919insC (p.Gly640AlafsTer16)
 ClinVar dbSNP
12g.101760134C>ACA386294936GNPTABc.3145G>T (p.Gly1049Cys)
n.11G>T
c.3064G>T (p.Gly1022Cys)
c.2929G>T (p.Gly977Cys)
c.1918G>T (p.Gly640Cys)
12g.101760134C>GCA386294939GNPTABc.3145G>C (p.Gly1049Arg)
n.11G>C
c.3064G>C (p.Gly1022Arg)
c.2929G>C (p.Gly977Arg)
c.1918G>C (p.Gly640Arg)
 ClinVar gnomAD v4
12g.101760134C>TCA386294937GNPTABc.3145G>A (p.Gly1049Ser)
n.11G>A
c.3064G>A (p.Gly1022Ser)
c.2929G>A (p.Gly977Ser)
c.1918G>A (p.Gly640Ser)
 gnomAD v4
12g.101760134_101760135insGCA2695217197GNPTABc.3144_3145insC (p.Gly1049ArgfsTer16)
n.10_11insC
c.3063_3064insC (p.Gly1022ArgfsTer16)
c.2928_2929insC (p.Gly977ArgfsTer16)
c.1917_1918insC (p.Gly640ArgfsTer16)
12g.101760135T>ACA481318592GNPTABc.3144A>T (p.Thr1048=)
n.10A>T
c.3063A>T (p.Thr1021=)
c.2928A>T (p.Thr976=)
c.1917A>T (p.Thr639=)
12g.101760135T>CCA481318593GNPTABc.3144A>G (p.Thr1048=)
n.10A>G
c.3063A>G (p.Thr1021=)
c.2928A>G (p.Thr976=)
c.1917A>G (p.Thr639=)
 gnomAD v4
12g.101760135T>GCA481318594GNPTABc.3144A>C (p.Thr1048=)
n.10A>C
c.3063A>C (p.Thr1021=)
c.2928A>C (p.Thr976=)
c.1917A>C (p.Thr639=)
12g.101760136G>ACA386294942GNPTABc.3143C>T (p.Thr1048Ile)
n.9C>T
c.3062C>T (p.Thr1021Ile)
c.2927C>T (p.Thr976Ile)
c.1916C>T (p.Thr639Ile)
 gnomAD v4
12g.101760136G>CCA386294944GNPTABc.3143C>G (p.Thr1048Arg)
n.9C>G
c.3062C>G (p.Thr1021Arg)
c.2927C>G (p.Thr976Arg)
c.1916C>G (p.Thr639Arg)
 COSMIC
12g.101760136G>TCA386294945GNPTABc.3143C>A (p.Thr1048Lys)
n.9C>A
c.3062C>A (p.Thr1021Lys)
c.2927C>A (p.Thr976Lys)
c.1916C>A (p.Thr639Lys)
 gnomAD v4
12g.101760137T>ACA386294947GNPTABc.3142A>T (p.Thr1048Ser)
n.8A>T
c.3061A>T (p.Thr1021Ser)
c.2926A>T (p.Thr976Ser)
c.1915A>T (p.Thr639Ser)
12g.101760137T>CCA386294949GNPTABc.3142A>G (p.Thr1048Ala)
n.8A>G
c.3061A>G (p.Thr1021Ala)
c.2926A>G (p.Thr976Ala)
c.1915A>G (p.Thr639Ala)
12g.101760137T>GCA386294951GNPTABc.3142A>C (p.Thr1048Pro)
n.8A>C
c.3061A>C (p.Thr1021Pro)
c.2926A>C (p.Thr976Pro)
c.1915A>C (p.Thr639Pro)
12g.101760138C>ACA386294953GNPTABc.3141G>T (p.Leu1047Phe)
n.7G>T
c.3060G>T (p.Leu1020Phe)
c.2925G>T (p.Leu975Phe)
c.1914G>T (p.Leu638Phe)
12g.101760138C>GCA386294955GNPTABc.3141G>C (p.Leu1047Phe)
n.7G>C
c.3060G>C (p.Leu1020Phe)
c.2925G>C (p.Leu975Phe)
c.1914G>C (p.Leu638Phe)
12g.101760138C>TCA481318597GNPTABc.3141G>A (p.Leu1047=)
n.7G>A
c.3060G>A (p.Leu1020=)
c.2925G>A (p.Leu975=)
c.1914G>A (p.Leu638=)

Number of alleles fetched