Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101760038del | CA2620427919 | GNPTAB | c.3243del (p.Asn1082ThrfsTer9) n.109del c.55del c.3162del (p.Asn1055ThrfsTer9) c.3027del (p.Asn1010ThrfsTer9) c.2016del (p.Asn673ThrfsTer9) | gnomAD v4 |
12 | g.101760037G>A | CA386294589 | GNPTAB | c.3242C>T (p.Pro1081Leu) n.108C>T c.54C>T c.3161C>T (p.Pro1054Leu) c.3026C>T (p.Pro1009Leu) c.2015C>T (p.Pro672Leu) | |
12 | g.101760037G>C | CA386294590 | GNPTAB | c.3242C>G (p.Pro1081Arg) n.108C>G c.54C>G c.3161C>G (p.Pro1054Arg) c.3026C>G (p.Pro1009Arg) c.2015C>G (p.Pro672Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101760037G= | CA2058954190 | GNPTAB | c.3242C= (p.Pro1081=) n.108C= c.54C= c.3161C= (p.Pro1054=) c.3026C= (p.Pro1009=) c.2015C= (p.Pro672=) | |
12 | g.101760037G>T | CA386294591 | GNPTAB | c.3242C>A (p.Pro1081His) n.108C>A c.54C>A c.3161C>A (p.Pro1054His) c.3026C>A (p.Pro1009His) c.2015C>A (p.Pro672His) | gnomAD v4 |
12 | g.101760038G>A | CA6746229 | GNPTAB | c.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 |
12 | g.101760038G>C | CA386294592 | GNPTAB | c.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) | |
12 | g.101760038G= | CA2058954191 | GNPTAB | c.3241C= (p.Pro1081=) n.107C= c.53C= c.3160C= (p.Pro1054=) c.3025C= (p.Pro1009=) c.2014C= (p.Pro672=) | |
12 | g.101760038G>T | CA386294593 | GNPTAB | c.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 |
12 | g.101760039A>C | CA386294594 | GNPTAB | c.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) | |
12 | g.101760039A>G | CA481318438 | GNPTAB | c.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=) | |
12 | g.101760039A>T | CA386294595 | GNPTAB | c.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) | |
12 | g.101760040T>A | CA386294596 | GNPTAB | c.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 |
12 | g.101760040T>C | CA386294597 | GNPTAB | c.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 |
12 | g.101760040T>G | CA386294598 | GNPTAB | c.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) | |
12 | g.101760041C>A | CA6746230 | GNPTAB | c.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 |
12 | g.101760041C= | CA2058954192 | GNPTAB | c.3238G= (p.Asp1080=) n.104G= c.50G= c.3157G= (p.Asp1053=) c.3022G= (p.Asp1008=) c.2011G= (p.Asp671=) | |
12 | g.101760041C>G | CA386294600 | GNPTAB | c.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) | |
12 | g.101760041C>T | CA386294599 | GNPTAB | c.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) | |
12 | g.101760042A= | CA2058954193 | GNPTAB | c.3237T= (p.Tyr1079=) n.103T= c.49T= c.3156T= (p.Tyr1052=) c.3021T= (p.Tyr1007=) c.2010T= (p.Tyr670=) | |
12 | g.101760042A>C | CA386294601 | GNPTAB | c.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) | |
12 | g.101760042A>G | CA481318440 | GNPTAB | c.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 |
12 | g.101760042A>T | CA386294602 | GNPTAB | c.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) | |
12 | g.101760043T>A | CA386294603 | GNPTAB | c.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) | |
12 | g.101760043T>C | CA6746231 | GNPTAB | c.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 |
12 | g.101760043T>G | CA386294604 | GNPTAB | c.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) | |
12 | g.101760043T= | CA2058954194 | GNPTAB | c.3236A= (p.Tyr1079=) n.102A= c.48A= c.3155A= (p.Tyr1052=) c.3020A= (p.Tyr1007=) c.2009A= (p.Tyr670=) | |
12 | g.101760044A= | CA2058954196 | GNPTAB | c.3235T= (p.Tyr1079=) n.101T= c.47T= c.3154T= (p.Tyr1052=) c.3019T= (p.Tyr1007=) c.2008T= (p.Tyr670=) | |
12 | g.101760044A>C | CA386294605 | GNPTAB | c.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) | |
12 | g.101760044A>G | CA386294606 | GNPTAB | c.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) | |
12 | g.101760044A>T | CA386294607 | GNPTAB | c.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) | |
12 | g.101760045G>A | CA481318445 | GNPTAB | c.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=) | |
12 | g.101760045G>C | CA386294608 | GNPTAB | c.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) | |
12 | g.101760045G>T | CA386294609 | GNPTAB | c.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 |
12 | g.101760046_101760049dup | CA343075 | GNPTAB | c.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 |
12 | g.101760046del | CA2620427922 | GNPTAB | c.3233del (p.Tyr1078SerfsTer13) n.99del c.45del c.3152del (p.Tyr1051SerfsTer13) c.3017del (p.Tyr1006SerfsTer13) c.2006del (p.Tyr669SerfsTer13) | gnomAD v4 |
12 | g.101760046T>A | CA386294610 | GNPTAB | c.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) | |
12 | g.101760046T>C | CA386294612 | GNPTAB | c.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) | |
12 | g.101760046T>G | CA386294611 | GNPTAB | c.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) | |
12 | g.101760046_101760047delinsTA | CA2058954198 | GNPTAB | c.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=) | |
12 | g.101760047del | CA343393 | GNPTAB | c.3232del (p.Tyr1078ThrfsTer13) n.98del c.44del c.3151del (p.Tyr1051ThrfsTer13) c.3016del (p.Tyr1006ThrfsTer13) c.2005del (p.Tyr669ThrfsTer13) | ClinVar dbSNP gnomAD v4 |
12 | g.101760047A>C | CA386294613 | GNPTAB | c.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) | |
12 | g.101760047A>G | CA386294614 | GNPTAB | c.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) | |
12 | g.101760047A>T | CA386294615 | GNPTAB | c.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) | |
12 | g.101760048G>A | CA481318450 | GNPTAB | c.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=) | |
12 | g.101760048G>C | CA481318451 | GNPTAB | c.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 |
12 | g.101760048G= | CA2058954199 | GNPTAB | c.3231C= (p.Ser1077=) n.97C= c.43C= c.3150C= (p.Ser1050=) c.3015C= (p.Ser1005=) c.2004C= (p.Ser668=) | |
12 | g.101760048G>T | CA481318452 | GNPTAB | c.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 |
12 | g.101760049G>A | CA386294618 | GNPTAB | c.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) | |
12 | g.101760049G>C | CA386294616 | GNPTAB | c.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) | |
12 | g.101760049G>T | CA386294617 | GNPTAB | c.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) | |
12 | g.101760050A= | CA2058954202 | GNPTAB | c.3229T= (p.Ser1077=) n.95T= c.41T= c.3148T= (p.Ser1050=) c.3013T= (p.Ser1005=) c.2002T= (p.Ser668=) | |
12 | g.101760050A>C | CA386294619 | GNPTAB | c.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) | |
12 | g.101760050A>G | CA386294620 | GNPTAB | c.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) | |
12 | g.101760050A>T | CA386294621 | GNPTAB | c.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 |
12 | g.101760051T>A | CA386294622 | GNPTAB | c.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) | |
12 | g.101760051T>C | CA481318455 | GNPTAB | c.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=) | |
12 | g.101760051T>G | CA386294623 | GNPTAB | c.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) | |
12 | g.101760052T>A | CA386294624 | GNPTAB | c.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) | |
12 | g.101760052T>C | CA386294625 | GNPTAB | c.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) | |
12 | g.101760052T>G | CA386294626 | GNPTAB | c.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) | |
12 | g.101760053C>A | CA386294629 | GNPTAB | c.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) | |
12 | g.101760053C= | CA2058954205 | GNPTAB | c.3226G= (p.Glu1076=) n.92G= c.38G= c.3145G= (p.Glu1049=) c.3010G= (p.Glu1004=) c.1999G= (p.Glu667=) | |
12 | g.101760053C>G | CA386294628 | GNPTAB | c.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) | |
12 | g.101760053C>T | CA386294627 | GNPTAB | c.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 |
12 | g.101760054C>A | CA386294630 | GNPTAB | c.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) | |
12 | g.101760054C>G | CA386294631 | GNPTAB | c.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) | |
12 | g.101760054C>T | CA481318458 | GNPTAB | c.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=) | |
12 | g.101760055T>A | CA386294632 | GNPTAB | c.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 |
12 | g.101760055T>C | CA386294633 | GNPTAB | c.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 |
12 | g.101760055T>G | CA386294634 | GNPTAB | c.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 |
12 | g.101760056G>A | CA386294635 | GNPTAB | c.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 |
12 | g.101760056G>C | CA386294636 | GNPTAB | c.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) | |
12 | g.101760056G= | CA2058954209 | GNPTAB | c.3223C= (p.Gln1075=) n.89C= c.35C= c.3142C= (p.Gln1048=) c.3007C= (p.Gln1003=) c.1996C= (p.Gln666=) | |
12 | g.101760056G>T | CA386294637 | GNPTAB | c.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) | |
12 | g.101760057A>C | CA481318466 | GNPTAB | c.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=) | |
12 | g.101760057A>G | CA481318464 | GNPTAB | c.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=) | |
12 | g.101760057A>T | CA481318462 | GNPTAB | c.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=) | |
12 | g.101760058G>A | CA386294638 | GNPTAB | c.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) | |
12 | g.101760058G>C | CA386294639 | GNPTAB | c.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) | |
12 | g.101760058G>T | CA386294640 | GNPTAB | c.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) | |
12 | g.101760059T>A | CA386294642 | GNPTAB | c.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) | |
12 | g.101760059T>C | CA386294643 | GNPTAB | c.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) | |
12 | g.101760059T>G | CA386294641 | GNPTAB | c.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 |
12 | g.101760059_101760062delinsTTGG | CA2058954211 | GNPTAB | c.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=) | |
12 | g.101760060T>A | CA481318468 | GNPTAB | c.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=) | |
12 | g.101760060T>C | CA481318470 | GNPTAB | c.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=) | |
12 | g.101760060T>G | CA481318469 | GNPTAB | c.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=) | |
12 | g.101760063_101760065del | CA607153318 | GNPTAB | c.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 |
12 | g.101760061G>A | CA386294644 | GNPTAB | c.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) | |
12 | g.101760061G>C | CA386294645 | GNPTAB | c.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) | |
12 | g.101760061G>T | CA386294646 | GNPTAB | c.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) | |
12 | g.101760062G>A | CA386294647 | GNPTAB | c.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) | |
12 | g.101760062G>C | CA386294648 | GNPTAB | c.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) | |
12 | g.101760062G>T | CA386294649 | GNPTAB | c.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) | |
12 | g.101760063T>A | CA481318477 | GNPTAB | c.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=) | |
12 | g.101760063T>C | CA6746232 | GNPTAB | c.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 |
12 | g.101760063T>G | CA481318478 | GNPTAB | c.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=) | |
12 | g.101760063T= | CA2058954215 | GNPTAB | c.3216A= (p.Pro1072=) n.82A= c.28A= c.3135A= (p.Pro1045=) c.3000A= (p.Pro1000=) c.1989A= (p.Pro663=) | |
12 | g.101760063dup | CA2695217195 | GNPTAB | c.3216dup (p.Pro1073ThrfsTer8) n.82dup c.28dup c.3135dup (p.Pro1046ThrfsTer8) c.3000dup (p.Pro1001ThrfsTer8) c.1989dup (p.Pro664ThrfsTer8) | |
12 | g.101760064G>A | CA386294650 | GNPTAB | c.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) | |
12 | g.101760064G>C | CA386294651 | GNPTAB | c.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) | |
12 | g.101760064G>T | CA386294652 | GNPTAB | c.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) | |
12 | g.101760065G>A | CA386294653 | GNPTAB | c.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) | |
12 | g.101760065G>C | CA386294654 | GNPTAB | c.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 |
12 | g.101760065G>T | CA386294655 | GNPTAB | c.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 |
12 | g.101760066A= | CA2058954219 | GNPTAB | c.3213T= (p.Ile1071=) n.79T= c.25T= c.3132T= (p.Ile1044=) c.2997T= (p.Ile999=) c.1986T= (p.Ile662=) | |
12 | g.101760066A>C | CA242453089 | GNPTAB | c.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 |
12 | g.101760066A>G | CA481318485 | GNPTAB | c.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=) | |
12 | g.101760066A>T | CA481318486 | GNPTAB | c.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=) | |
12 | g.101760067A= | CA2058954223 | GNPTAB | c.3212T= (p.Ile1071=) n.78T= c.24T= c.3131T= (p.Ile1044=) c.2996T= (p.Ile999=) c.1985T= (p.Ile662=) | |
12 | g.101760067A>C | CA386294656 | GNPTAB | c.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) | |
12 | g.101760067A>G | CA386294657 | GNPTAB | c.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 |
12 | g.101760067A>T | CA386294658 | GNPTAB | c.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) | |
12 | g.101760068T>A | CA386294659 | GNPTAB | c.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) | |
12 | g.101760068T>C | CA386294660 | GNPTAB | c.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 |
12 | g.101760068T>G | CA386294661 | GNPTAB | c.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) | |
12 | g.101760069A>C | CA386294662 | GNPTAB | c.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) | |
12 | g.101760069A>G | CA481318489 | GNPTAB | c.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=) | |
12 | g.101760069A>T | CA386294663 | GNPTAB | c.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) | |
12 | g.101760070T>A | CA386294664 | GNPTAB | c.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) | |
12 | g.101760070T>C | CA386294665 | GNPTAB | c.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) | |
12 | g.101760070T>G | CA6746233 | GNPTAB | c.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 |
12 | g.101760070T= | CA2058954225 | GNPTAB | c.3209A= (p.Asn1070=) n.75A= c.21A= c.3128A= (p.Asn1043=) c.2993A= (p.Asn998=) c.1982A= (p.Asn661=) | |
12 | g.101760071T>A | CA386294668 | GNPTAB | c.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) | |
12 | g.101760071T>C | CA386294669 | GNPTAB | c.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) | |
12 | g.101760071T>G | CA386294671 | GNPTAB | c.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) | |
12 | g.101760072A>C | CA386294675 | GNPTAB | c.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) | |
12 | g.101760072A>G | CA481318491 | GNPTAB | c.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=) | |
12 | g.101760072A>T | CA386294673 | GNPTAB | c.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) | |
12 | g.101760073T>A | CA386294680 | GNPTAB | c.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) | |
12 | g.101760073T>C | CA386294683 | GNPTAB | c.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) | |
12 | g.101760073T>G | CA386294682 | GNPTAB | c.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) | |
12 | g.101760074T>A | CA386294686 | GNPTAB | c.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) | |
12 | g.101760074T>C | CA386294687 | GNPTAB | c.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) | |
12 | g.101760074T>G | CA386294689 | GNPTAB | c.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) | |
12 | g.101760075T>A | CA481318500 | GNPTAB | c.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=) | |
12 | g.101760075T>C | CA481318498 | GNPTAB | c.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 |
12 | g.101760075T>G | CA481318499 | GNPTAB | c.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=) | |
12 | g.101760075T= | CA2058954228 | GNPTAB | c.3204A= (p.Leu1068=) n.70A= c.16A= c.3123A= (p.Leu1041=) c.2988A= (p.Leu996=) c.1977A= (p.Leu659=) | |
12 | g.101760076A>C | CA386294691 | GNPTAB | c.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) | |
12 | g.101760076A>G | CA386294693 | GNPTAB | c.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) | |
12 | g.101760076A>T | CA386294695 | GNPTAB | c.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) | |
12 | g.101760077G>A | CA481318501 | GNPTAB | c.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=) | |
12 | g.101760077G>C | CA386294697 | GNPTAB | c.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) | |
12 | g.101760077G>T | CA386294699 | GNPTAB | c.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) | |
12 | g.101760078C>A | CA386294701 | GNPTAB | c.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) | |
12 | g.101760078C>G | CA386294703 | GNPTAB | c.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) | |
12 | g.101760078C>T | CA481318505 | GNPTAB | c.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=) | |
12 | g.101760079T>A | CA386294706 | GNPTAB | c.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) | |
12 | g.101760079T>C | CA386294707 | GNPTAB | c.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) | |
12 | g.101760079T>G | CA386294709 | GNPTAB | c.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) | |
12 | g.101760080G>A | CA386294711 | GNPTAB | c.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 |
12 | g.101760080G>C | CA386294715 | GNPTAB | c.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) | |
12 | g.101760080G>T | CA386294713 | GNPTAB | c.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) | |
12 | g.101760081C>A | CA481318507 | GNPTAB | c.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=) | |
12 | g.101760081C= | CA2058954233 | GNPTAB | c.3198G= (p.Thr1066=) n.64G= c.10G= c.3117G= (p.Thr1039=) c.2982G= (p.Thr994=) c.1971G= (p.Thr657=) | |
12 | g.101760081C>G | CA481318508 | GNPTAB | c.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=) | |
12 | g.101760081C>T | CA481318509 | GNPTAB | c.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 |
12 | g.101760082G>A | CA6746234 | GNPTAB | c.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 |
12 | g.101760082G>C | CA386294719 | GNPTAB | c.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) | |
12 | g.101760082G= | CA2058954239 | GNPTAB | c.3197C= (p.Thr1066=) n.63C= c.9C= c.3116C= (p.Thr1039=) c.2981C= (p.Thr994=) c.1970C= (p.Thr657=) | |
12 | g.101760082G>T | CA386294720 | GNPTAB | c.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) | |
12 | g.101760083T>A | CA386294723 | GNPTAB | c.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) | |
12 | g.101760083T>C | CA386294724 | GNPTAB | c.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 |
12 | g.101760083T>G | CA386294726 | GNPTAB | c.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) | |
12 | g.101760084G>A | CA481318514 | GNPTAB | c.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 |
12 | g.101760084G>C | CA386294728 | GNPTAB | c.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 |
12 | g.101760084G>T | CA481318515 | GNPTAB | c.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=) | |
12 | g.101760085A= | CA2058954246 | GNPTAB | c.3194T= (p.Ile1065=) n.60T= c.6T= c.3113T= (p.Ile1038=) c.2978T= (p.Ile993=) c.1967T= (p.Ile656=) | |
12 | g.101760085A>C | CA386294730 | GNPTAB | c.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) | |
12 | g.101760085A>G | CA6746235 | GNPTAB | c.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 |
12 | g.101760085A>T | CA386294733 | GNPTAB | c.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) | |
12 | g.101760086T>A | CA386294738 | GNPTAB | c.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) | |
12 | g.101760086T>C | CA6746236 | GNPTAB | c.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 |
12 | g.101760086T>G | CA386294735 | GNPTAB | c.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) | |
12 | g.101760086T= | CA2058954251 | GNPTAB | c.3193A= (p.Ile1065=) n.59A= c.5A= c.3112A= (p.Ile1038=) c.2977A= (p.Ile993=) c.1966A= (p.Ile656=) | |
12 | g.101760087A>C | CA386294740 | GNPTAB | c.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) | |
12 | g.101760087A>G | CA481318520 | GNPTAB | c.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 |
12 | g.101760087A>T | CA386294741 | GNPTAB | c.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) | |
12 | g.101760088T>A | CA386294744 | GNPTAB | c.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) | |
12 | g.101760088T>C | CA386294746 | GNPTAB | c.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 |
12 | g.101760088T>G | CA386294748 | GNPTAB | c.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) | |
12 | g.101760089C>A | CA386294753 | GNPTAB | c.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 |
12 | g.101760089C= | CA2058954253 | GNPTAB | c.3190G= (p.Asp1064=) n.56G= c.2G= c.3109G= (p.Asp1037=) c.2974G= (p.Asp992=) c.1963G= (p.Asp655=) | |
12 | g.101760089C>G | CA6746237 | GNPTAB | c.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 |
12 | g.101760089C>T | CA386294750 | GNPTAB | c.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) | |
12 | g.101760090A= | CA2058954255 | GNPTAB | c.3189T= (p.Ala1063=) n.55T= c.1T= c.3108T= (p.Ala1036=) c.2973T= (p.Ala991=) c.1962T= (p.Ala654=) | |
12 | g.101760090A>C | CA481318521 | GNPTAB | c.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=) | |
12 | g.101760090A>G | CA481318522 | GNPTAB | c.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 |
12 | g.101760090A>T | CA481318524 | GNPTAB | c.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=) | |
12 | g.101760091G>A | CA386294754 | GNPTAB | c.3188C>T (p.Ala1063Val) n.54C>T c.3107C>T (p.Ala1036Val) c.2972C>T (p.Ala991Val) c.1961C>T (p.Ala654Val) | |
12 | g.101760091G>C | CA386294756 | GNPTAB | c.3188C>G (p.Ala1063Gly) n.54C>G c.3107C>G (p.Ala1036Gly) c.2972C>G (p.Ala991Gly) c.1961C>G (p.Ala654Gly) | gnomAD v4 |
12 | g.101760091G>T | CA386294758 | GNPTAB | c.3188C>A (p.Ala1063Asp) n.54C>A c.3107C>A (p.Ala1036Asp) c.2972C>A (p.Ala991Asp) c.1961C>A (p.Ala654Asp) | |
12 | g.101760092C>A | CA386294760 | GNPTAB | c.3187G>T (p.Ala1063Ser) n.53G>T c.3106G>T (p.Ala1036Ser) c.2971G>T (p.Ala991Ser) c.1960G>T (p.Ala654Ser) | |
12 | g.101760092C>G | CA386294761 | GNPTAB | c.3187G>C (p.Ala1063Pro) n.53G>C c.3106G>C (p.Ala1036Pro) c.2971G>C (p.Ala991Pro) c.1960G>C (p.Ala654Pro) | |
12 | g.101760092C>T | CA386294763 | GNPTAB | c.3187G>A (p.Ala1063Thr) n.53G>A c.3106G>A (p.Ala1036Thr) c.2971G>A (p.Ala991Thr) c.1960G>A (p.Ala654Thr) | |
12 | g.101760093A>C | CA481318526 | GNPTAB | c.3186T>G (p.Pro1062=) n.52T>G c.3105T>G (p.Pro1035=) c.2970T>G (p.Pro990=) c.1959T>G (p.Pro653=) | |
12 | g.101760093A>G | CA481318527 | GNPTAB | c.3186T>C (p.Pro1062=) n.52T>C c.3105T>C (p.Pro1035=) c.2970T>C (p.Pro990=) c.1959T>C (p.Pro653=) | |
12 | g.101760093A>T | CA481318528 | GNPTAB | c.3186T>A (p.Pro1062=) n.52T>A c.3105T>A (p.Pro1035=) c.2970T>A (p.Pro990=) c.1959T>A (p.Pro653=) | |
12 | g.101760094G>A | CA386294766 | GNPTAB | c.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 |
12 | g.101760094G>C | CA386294768 | GNPTAB | c.3185C>G (p.Pro1062Arg) n.51C>G c.3104C>G (p.Pro1035Arg) c.2969C>G (p.Pro990Arg) c.1958C>G (p.Pro653Arg) | |
12 | g.101760094G= | CA2058954258 | GNPTAB | c.3185C= (p.Pro1062=) n.51C= c.3104C= (p.Pro1035=) c.2969C= (p.Pro990=) c.1958C= (p.Pro653=) | |
12 | g.101760094G>T | CA386294767 | GNPTAB | c.3185C>A (p.Pro1062His) n.51C>A c.3104C>A (p.Pro1035His) c.2969C>A (p.Pro990His) c.1958C>A (p.Pro653His) | |
12 | g.101760095G>A | CA386294771 | GNPTAB | c.3184C>T (p.Pro1062Ser) n.50C>T c.3103C>T (p.Pro1035Ser) c.2968C>T (p.Pro990Ser) c.1957C>T (p.Pro653Ser) | |
12 | g.101760095G>C | CA386294772 | GNPTAB | c.3184C>G (p.Pro1062Ala) n.50C>G c.3103C>G (p.Pro1035Ala) c.2968C>G (p.Pro990Ala) c.1957C>G (p.Pro653Ala) | |
12 | g.101760095G= | CA2058954261 | GNPTAB | c.3184C= (p.Pro1062=) n.50C= c.3103C= (p.Pro1035=) c.2968C= (p.Pro990=) c.1957C= (p.Pro653=) | |
12 | g.101760095G>T | CA386294774 | GNPTAB | c.3184C>A (p.Pro1062Thr) n.50C>A c.3103C>A (p.Pro1035Thr) c.2968C>A (p.Pro990Thr) c.1957C>A (p.Pro653Thr) | |
12 | g.101760095_101760096insCTCTATGGTTTTAT | CA2058954262 | GNPTAB | c.3183_3184insATAAAACCATAGAG (p.Pro1062IlefsTer4) n.49_50insATAAAACCATAGAG c.3102_3103insATAAAACCATAGAG (p.Pro1035IlefsTer4) c.2967_2968insATAAAACCATAGAG (p.Pro990IlefsTer4) c.1956_1957insATAAAACCATAGAG (p.Pro653IlefsTer4) | dbSNP |
12 | g.101760096A>C | CA481318539 | GNPTAB | c.3183T>G (p.Leu1061=) n.49T>G c.3102T>G (p.Leu1034=) c.2967T>G (p.Leu989=) c.1956T>G (p.Leu652=) | |
12 | g.101760096A>G | CA481318538 | GNPTAB | c.3183T>C (p.Leu1061=) n.49T>C c.3102T>C (p.Leu1034=) c.2967T>C (p.Leu989=) c.1956T>C (p.Leu652=) | |
12 | g.101760096A>T | CA481318537 | GNPTAB | c.3183T>A (p.Leu1061=) n.49T>A c.3102T>A (p.Leu1034=) c.2967T>A (p.Leu989=) c.1956T>A (p.Leu652=) | |
12 | g.101760097A= | CA2058954270 | GNPTAB | c.3182T= (p.Leu1061=) n.48T= c.3101T= (p.Leu1034=) c.2966T= (p.Leu989=) c.1955T= (p.Leu652=) | |
12 | g.101760097A>C | CA6746238 | GNPTAB | c.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 |
12 | g.101760097A>G | CA386294777 | GNPTAB | c.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 |
12 | g.101760097A>T | CA386294779 | GNPTAB | c.3182T>A (p.Leu1061His) n.48T>A c.3101T>A (p.Leu1034His) c.2966T>A (p.Leu989His) c.1955T>A (p.Leu652His) | dbSNP |
12 | g.101760098G>A | CA242453143 | GNPTAB | c.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 |
12 | g.101760098G>C | CA386294780 | GNPTAB | c.3181C>G (p.Leu1061Val) n.47C>G c.3100C>G (p.Leu1034Val) c.2965C>G (p.Leu989Val) c.1954C>G (p.Leu652Val) | gnomAD v4 |
12 | g.101760098G= | CA2058954276 | GNPTAB | c.3181C= (p.Leu1061=) n.47C= c.3100C= (p.Leu1034=) c.2965C= (p.Leu989=) c.1954C= (p.Leu652=) | |
12 | g.101760098G>T | CA386294782 | GNPTAB | c.3181C>A (p.Leu1061Ile) n.47C>A c.3100C>A (p.Leu1034Ile) c.2965C>A (p.Leu989Ile) c.1954C>A (p.Leu652Ile) | |
12 | g.101760099C>A | CA386294785 | GNPTAB | c.3180G>T (p.Met1060Ile) n.46G>T c.3099G>T (p.Met1033Ile) c.2964G>T (p.Met988Ile) c.1953G>T (p.Met651Ile) | |
12 | g.101760099C= | CA2058954279 | GNPTAB | c.3180G= (p.Met1060=) n.46G= c.3099G= (p.Met1033=) c.2964G= (p.Met988=) c.1953G= (p.Met651=) | |
12 | g.101760099C>G | CA386294786 | GNPTAB | c.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 |
12 | g.101760099C>T | CA386294788 | GNPTAB | c.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 |
12 | g.101760100A= | CA2058954281 | GNPTAB | c.3179T= (p.Met1060=) n.45T= c.3098T= (p.Met1033=) c.2963T= (p.Met988=) c.1952T= (p.Met651=) | |
12 | g.101760100A>C | CA386294794 | GNPTAB | c.3179T>G (p.Met1060Arg) n.45T>G c.3098T>G (p.Met1033Arg) c.2963T>G (p.Met988Arg) c.1952T>G (p.Met651Arg) | dbSNP |
12 | g.101760100A>G | CA386294792 | GNPTAB | c.3179T>C (p.Met1060Thr) n.45T>C c.3098T>C (p.Met1033Thr) c.2963T>C (p.Met988Thr) c.1952T>C (p.Met651Thr) | |
12 | g.101760100A>T | CA386294791 | GNPTAB | c.3179T>A (p.Met1060Lys) n.45T>A c.3098T>A (p.Met1033Lys) c.2963T>A (p.Met988Lys) c.1952T>A (p.Met651Lys) | |
12 | g.101760101T>A | CA386294798 | GNPTAB | c.3178A>T (p.Met1060Leu) n.44A>T c.3097A>T (p.Met1033Leu) c.2962A>T (p.Met988Leu) c.1951A>T (p.Met651Leu) | |
12 | g.101760101T>C | CA386294797 | GNPTAB | c.3178A>G (p.Met1060Val) n.44A>G c.3097A>G (p.Met1033Val) c.2962A>G (p.Met988Val) c.1951A>G (p.Met651Val) | gnomAD v4 |
12 | g.101760101T>G | CA386294800 | GNPTAB | c.3178A>C (p.Met1060Leu) n.44A>C c.3097A>C (p.Met1033Leu) c.2962A>C (p.Met988Leu) c.1951A>C (p.Met651Leu) | |
12 | g.101760102T>A | CA386294802 | GNPTAB | c.3177A>T (p.Lys1059Asn) n.43A>T c.3096A>T (p.Lys1032Asn) c.2961A>T (p.Lys987Asn) c.1950A>T (p.Lys650Asn) | |
12 | g.101760102T>C | CA481318542 | GNPTAB | c.3177A>G (p.Lys1059=) n.43A>G c.3096A>G (p.Lys1032=) c.2961A>G (p.Lys987=) c.1950A>G (p.Lys650=) | |
12 | g.101760102T>G | CA386294804 | GNPTAB | c.3177A>C (p.Lys1059Asn) n.43A>C c.3096A>C (p.Lys1032Asn) c.2961A>C (p.Lys987Asn) c.1950A>C (p.Lys650Asn) | |
12 | g.101760103T>A | CA386294806 | GNPTAB | c.3176A>T (p.Lys1059Ile) n.42A>T c.3095A>T (p.Lys1032Ile) c.2960A>T (p.Lys987Ile) c.1949A>T (p.Lys650Ile) | |
12 | g.101760103T>C | CA386294809 | GNPTAB | c.3176A>G (p.Lys1059Arg) n.42A>G c.3095A>G (p.Lys1032Arg) c.2960A>G (p.Lys987Arg) c.1949A>G (p.Lys650Arg) | |
12 | g.101760103T>G | CA386294808 | GNPTAB | c.3176A>C (p.Lys1059Thr) n.42A>C c.3095A>C (p.Lys1032Thr) c.2960A>C (p.Lys987Thr) c.1949A>C (p.Lys650Thr) | |
12 | g.101760104T>A | CA386294812 | GNPTAB | c.3175A>T (p.Lys1059Ter) n.41A>T c.3094A>T (p.Lys1032Ter) c.2959A>T (p.Lys987Ter) c.1948A>T (p.Lys650Ter) | |
12 | g.101760104T>C | CA386294813 | GNPTAB | c.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 |
12 | g.101760104T>G | CA386294815 | GNPTAB | c.3175A>C (p.Lys1059Gln) n.41A>C c.3094A>C (p.Lys1032Gln) c.2959A>C (p.Lys987Gln) c.1948A>C (p.Lys650Gln) | |
12 | g.101760104T= | CA2058954284 | GNPTAB | c.3175A= (p.Lys1059=) n.41A= c.3094A= (p.Lys1032=) c.2959A= (p.Lys987=) c.1948A= (p.Lys650=) | |
12 | g.101760105T>A | CA481318543 | GNPTAB | c.3174A>T (p.Ser1058=) n.40A>T c.3093A>T (p.Ser1031=) c.2958A>T (p.Ser986=) c.1947A>T (p.Ser649=) | |
12 | g.101760105T>C | CA6746239 | GNPTAB | c.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 |
12 | g.101760105T>G | CA481318544 | GNPTAB | c.3174A>C (p.Ser1058=) n.40A>C c.3093A>C (p.Ser1031=) c.2958A>C (p.Ser986=) c.1947A>C (p.Ser649=) | |
12 | g.101760105T= | CA2058954287 | GNPTAB | c.3174A= (p.Ser1058=) n.40A= c.3093A= (p.Ser1031=) c.2958A= (p.Ser986=) c.1947A= (p.Ser649=) | |
12 | g.101760106G>A | CA386294817 | GNPTAB | c.3173C>T (p.Ser1058Leu) n.39C>T c.3092C>T (p.Ser1031Leu) c.2957C>T (p.Ser986Leu) c.1946C>T (p.Ser649Leu) | dbSNP |
12 | g.101760106G>C | CA340011 | GNPTAB | c.3173C>G (p.Ser1058Ter) n.39C>G c.3092C>G (p.Ser1031Ter) c.2957C>G (p.Ser986Ter) c.1946C>G (p.Ser649Ter) | ClinVar dbSNP |
12 | g.101760106G= | CA2058954295 | GNPTAB | c.3173C= (p.Ser1058=) n.39C= c.3092C= (p.Ser1031=) c.2957C= (p.Ser986=) c.1946C= (p.Ser649=) | |
12 | g.101760106G>T | CA386294820 | GNPTAB | c.3173C>A (p.Ser1058Ter) n.39C>A c.3092C>A (p.Ser1031Ter) c.2957C>A (p.Ser986Ter) c.1946C>A (p.Ser649Ter) | |
12 | g.101760106_101760107delinsGA | CA2058954297 | GNPTAB | c.3172_3173delinsTC (p.Ser1058=) n.38_39delinsTC c.3091_3092delinsTC (p.Ser1031=) c.2956_2957delinsTC (p.Ser986=) c.1945_1946delinsTC (p.Ser649=) | |
12 | g.101760107del | CA6746240 | GNPTAB | c.3172del (p.Ser1058GlnfsTer11) n.38del c.3091del (p.Ser1031GlnfsTer11) c.2956del (p.Ser986GlnfsTer11) c.1945del (p.Ser649GlnfsTer11) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101760107A>C | CA386294823 | GNPTAB | c.3172T>G (p.Ser1058Ala) n.38T>G c.3091T>G (p.Ser1031Ala) c.2956T>G (p.Ser986Ala) c.1945T>G (p.Ser649Ala) | |
12 | g.101760107A>G | CA386294824 | GNPTAB | c.3172T>C (p.Ser1058Pro) n.38T>C c.3091T>C (p.Ser1031Pro) c.2956T>C (p.Ser986Pro) c.1945T>C (p.Ser649Pro) | gnomAD v4 |
12 | g.101760107A>T | CA386294826 | GNPTAB | c.3172T>A (p.Ser1058Thr) n.38T>A c.3091T>A (p.Ser1031Thr) c.2956T>A (p.Ser986Thr) c.1945T>A (p.Ser649Thr) | |
12 | g.101760111_101760121del | CA2695217196 | GNPTAB | c.3162_3172del (p.Ile1055LysfsTer6) n.28_38del c.3081_3091del (p.Ile1028LysfsTer6) c.2946_2956del (p.Ile983LysfsTer6) c.1935_1945del (p.Ile646LysfsTer6) | |
12 | g.101760108G>A | CA481318550 | GNPTAB | c.3171C>T (p.Cys1057=) n.37C>T c.3090C>T (p.Cys1030=) c.2955C>T (p.Cys985=) c.1944C>T (p.Cys648=) | gnomAD v4 |
12 | g.101760108G>C | CA386294829 | GNPTAB | c.3171C>G (p.Cys1057Trp) n.37C>G c.3090C>G (p.Cys1030Trp) c.2955C>G (p.Cys985Trp) c.1944C>G (p.Cys648Trp) | |
12 | g.101760108G>T | CA386294830 | GNPTAB | c.3171C>A (p.Cys1057Ter) n.37C>A c.3090C>A (p.Cys1030Ter) c.2955C>A (p.Cys985Ter) c.1944C>A (p.Cys648Ter) | |
12 | g.101760109C>A | CA386294831 | GNPTAB | c.3170G>T (p.Cys1057Phe) n.36G>T c.3089G>T (p.Cys1030Phe) c.2954G>T (p.Cys985Phe) c.1943G>T (p.Cys648Phe) | |
12 | g.101760109C>G | CA386294835 | GNPTAB | c.3170G>C (p.Cys1057Ser) n.36G>C c.3089G>C (p.Cys1030Ser) c.2954G>C (p.Cys985Ser) c.1943G>C (p.Cys648Ser) | |
12 | g.101760109C>T | CA386294833 | GNPTAB | c.3170G>A (p.Cys1057Tyr) n.36G>A c.3089G>A (p.Cys1030Tyr) c.2954G>A (p.Cys985Tyr) c.1943G>A (p.Cys648Tyr) | |
12 | g.101760110A= | CA2058954303 | GNPTAB | c.3169T= (p.Cys1057=) n.35T= c.3088T= (p.Cys1030=) c.2953T= (p.Cys985=) c.1942T= (p.Cys648=) | |
12 | g.101760110A>C | CA386294837 | GNPTAB | c.3169T>G (p.Cys1057Gly) n.35T>G c.3088T>G (p.Cys1030Gly) c.2953T>G (p.Cys985Gly) c.1942T>G (p.Cys648Gly) | |
12 | g.101760110A>G | CA386294839 | GNPTAB | c.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 |
12 | g.101760110A>T | CA386294841 | GNPTAB | c.3169T>A (p.Cys1057Ser) n.35T>A c.3088T>A (p.Cys1030Ser) c.2953T>A (p.Cys985Ser) c.1942T>A (p.Cys648Ser) | |
12 | g.101760111A= | CA2058954305 | GNPTAB | c.3168T= (p.Asn1056=) n.34T= c.3087T= (p.Asn1029=) c.2952T= (p.Asn984=) c.1941T= (p.Asn647=) | |
12 | g.101760111A>C | CA386294842 | GNPTAB | c.3168T>G (p.Asn1056Lys) n.34T>G c.3087T>G (p.Asn1029Lys) c.2952T>G (p.Asn984Lys) c.1941T>G (p.Asn647Lys) | dbSNP |
12 | g.101760111A>G | CA481318552 | GNPTAB | c.3168T>C (p.Asn1056=) n.34T>C c.3087T>C (p.Asn1029=) c.2952T>C (p.Asn984=) c.1941T>C (p.Asn647=) | COSMIC |
12 | g.101760111A>T | CA386294844 | GNPTAB | c.3168T>A (p.Asn1056Lys) n.34T>A c.3087T>A (p.Asn1029Lys) c.2952T>A (p.Asn984Lys) c.1941T>A (p.Asn647Lys) | |
12 | g.101760114_101760117del | CA2580085659 | GNPTAB | c.3165_3168del (p.Asn1056AlafsTer12) n.31_34del c.3084_3087del (p.Asn1029AlafsTer12) c.2949_2952del (p.Asn984AlafsTer12) c.1938_1941del (p.Asn647AlafsTer12) | ClinVar |
12 | g.101760112T>A | CA386294846 | GNPTAB | c.3167A>T (p.Asn1056Ile) n.33A>T c.3086A>T (p.Asn1029Ile) c.2951A>T (p.Asn984Ile) c.1940A>T (p.Asn647Ile) | |
12 | g.101760112T>C | CA386294849 | GNPTAB | c.3167A>G (p.Asn1056Ser) n.33A>G c.3086A>G (p.Asn1029Ser) c.2951A>G (p.Asn984Ser) c.1940A>G (p.Asn647Ser) | |
12 | g.101760112T>G | CA386294850 | GNPTAB | c.3167A>C (p.Asn1056Thr) n.33A>C c.3086A>C (p.Asn1029Thr) c.2951A>C (p.Asn984Thr) c.1940A>C (p.Asn647Thr) | |
12 | g.101760113T>A | CA6746241 | GNPTAB | c.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 |
12 | g.101760113T>C | CA386294852 | GNPTAB | c.3166A>G (p.Asn1056Asp) n.32A>G c.3085A>G (p.Asn1029Asp) c.2950A>G (p.Asn984Asp) c.1939A>G (p.Asn647Asp) | |
12 | g.101760113T>G | CA386294854 | GNPTAB | c.3166A>C (p.Asn1056His) n.32A>C c.3085A>C (p.Asn1029His) c.2950A>C (p.Asn984His) c.1939A>C (p.Asn647His) | dbSNP |
12 | g.101760113T= | CA2058954307 | GNPTAB | c.3166A= (p.Asn1056=) n.32A= c.3085A= (p.Asn1029=) c.2950A= (p.Asn984=) c.1939A= (p.Asn647=) | |
12 | g.101760114T>A | CA481318555 | GNPTAB | c.3165A>T (p.Ile1055=) n.31A>T c.3084A>T (p.Ile1028=) c.2949A>T (p.Ile983=) c.1938A>T (p.Ile646=) | |
12 | g.101760114T>C | CA386294856 | GNPTAB | c.3165A>G (p.Ile1055Met) n.31A>G c.3084A>G (p.Ile1028Met) c.2949A>G (p.Ile983Met) c.1938A>G (p.Ile646Met) | |
12 | g.101760114T>G | CA242453158 | GNPTAB | c.3165A>C (p.Ile1055=) n.31A>C c.3084A>C (p.Ile1028=) c.2949A>C (p.Ile983=) c.1938A>C (p.Ile646=) | dbSNP |
12 | g.101760114T= | CA2058954310 | GNPTAB | c.3165A= (p.Ile1055=) n.31A= c.3084A= (p.Ile1028=) c.2949A= (p.Ile983=) c.1938A= (p.Ile646=) | |
12 | g.101760115A>C | CA386294861 | GNPTAB | c.3164T>G (p.Ile1055Arg) n.30T>G c.3083T>G (p.Ile1028Arg) c.2948T>G (p.Ile983Arg) c.1937T>G (p.Ile646Arg) | |
12 | g.101760115A>G | CA386294858 | GNPTAB | c.3164T>C (p.Ile1055Thr) n.30T>C c.3083T>C (p.Ile1028Thr) c.2948T>C (p.Ile983Thr) c.1937T>C (p.Ile646Thr) | |
12 | g.101760115A>T | CA386294859 | GNPTAB | c.3164T>A (p.Ile1055Lys) n.30T>A c.3083T>A (p.Ile1028Lys) c.2948T>A (p.Ile983Lys) c.1937T>A (p.Ile646Lys) | |
12 | g.101760116T>A | CA386294863 | GNPTAB | c.3163A>T (p.Ile1055Leu) n.29A>T c.3082A>T (p.Ile1028Leu) c.2947A>T (p.Ile983Leu) c.1936A>T (p.Ile646Leu) | |
12 | g.101760116T>C | CA386294865 | GNPTAB | c.3163A>G (p.Ile1055Val) n.29A>G c.3082A>G (p.Ile1028Val) c.2947A>G (p.Ile983Val) c.1936A>G (p.Ile646Val) | |
12 | g.101760116T>G | CA386294866 | GNPTAB | c.3163A>C (p.Ile1055Leu) n.29A>C c.3082A>C (p.Ile1028Leu) c.2947A>C (p.Ile983Leu) c.1936A>C (p.Ile646Leu) | gnomAD v4 |
12 | g.101760117T>A | CA481318561 | GNPTAB | c.3162A>T (p.Leu1054=) n.28A>T c.3081A>T (p.Leu1027=) c.2946A>T (p.Leu982=) c.1935A>T (p.Leu645=) | |
12 | g.101760117T>C | CA481318562 | GNPTAB | c.3162A>G (p.Leu1054=) n.28A>G c.3081A>G (p.Leu1027=) c.2946A>G (p.Leu982=) c.1935A>G (p.Leu645=) | |
12 | g.101760117T>G | CA481318560 | GNPTAB | c.3162A>C (p.Leu1054=) n.28A>C c.3081A>C (p.Leu1027=) c.2946A>C (p.Leu982=) c.1935A>C (p.Leu645=) | |
12 | g.101760118A>C | CA386294868 | GNPTAB | c.3161T>G (p.Leu1054Arg) n.27T>G c.3080T>G (p.Leu1027Arg) c.2945T>G (p.Leu982Arg) c.1934T>G (p.Leu645Arg) | |
12 | g.101760118A>G | CA386294870 | GNPTAB | c.3161T>C (p.Leu1054Pro) n.27T>C c.3080T>C (p.Leu1027Pro) c.2945T>C (p.Leu982Pro) c.1934T>C (p.Leu645Pro) | |
12 | g.101760118A>T | CA386294872 | GNPTAB | c.3161T>A (p.Leu1054Gln) n.27T>A c.3080T>A (p.Leu1027Gln) c.2945T>A (p.Leu982Gln) c.1934T>A (p.Leu645Gln) | gnomAD v4 |
12 | g.101760119G>A | CA481318563 | GNPTAB | c.3160C>T (p.Leu1054=) n.26C>T c.3079C>T (p.Leu1027=) c.2944C>T (p.Leu982=) c.1933C>T (p.Leu645=) | |
12 | g.101760119G>C | CA343391 | GNPTAB | c.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 |
12 | g.101760119G= | CA2058954317 | GNPTAB | c.3160C= (p.Leu1054=) n.26C= c.3079C= (p.Leu1027=) c.2944C= (p.Leu982=) c.1933C= (p.Leu645=) | |
12 | g.101760119G>T | CA386294875 | GNPTAB | c.3160C>A (p.Leu1054Ile) n.26C>A c.3079C>A (p.Leu1027Ile) c.2944C>A (p.Leu982Ile) c.1933C>A (p.Leu645Ile) | gnomAD v4 |
12 | g.101760120C>A | CA386294878 | GNPTAB | c.3159G>T (p.Met1053Ile) n.25G>T c.3078G>T (p.Met1026Ile) c.2943G>T (p.Met981Ile) c.1932G>T (p.Met644Ile) | |
12 | g.101760120C= | CA2058954321 | GNPTAB | c.3159G= (p.Met1053=) n.25G= c.3078G= (p.Met1026=) c.2943G= (p.Met981=) c.1932G= (p.Met644=) | |
12 | g.101760120C>G | CA242453168 | GNPTAB | c.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 |
12 | g.101760120C>T | CA386294880 | GNPTAB | c.3159G>A (p.Met1053Ile) n.25G>A c.3078G>A (p.Met1026Ile) c.2943G>A (p.Met981Ile) c.1932G>A (p.Met644Ile) | |
12 | g.101760120dup | CA2740092549 | GNPTAB | c.3159dup (p.Leu1054AlafsTer11) n.25dup c.3078dup (p.Leu1027AlafsTer11) c.2943dup (p.Leu982AlafsTer11) c.1932dup (p.Leu645AlafsTer11) | ClinVar |
12 | g.101760121A= | CA2058954323 | GNPTAB | c.3158T= (p.Met1053=) n.24T= c.3077T= (p.Met1026=) c.2942T= (p.Met981=) c.1931T= (p.Met644=) | |
12 | g.101760121A>C | CA386294884 | GNPTAB | c.3158T>G (p.Met1053Arg) n.24T>G c.3077T>G (p.Met1026Arg) c.2942T>G (p.Met981Arg) c.1931T>G (p.Met644Arg) | |
12 | g.101760121A>G | CA6746242 | GNPTAB | c.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 |
12 | g.101760121A>T | CA386294882 | GNPTAB | c.3158T>A (p.Met1053Lys) n.24T>A c.3077T>A (p.Met1026Lys) c.2942T>A (p.Met981Lys) c.1931T>A (p.Met644Lys) | dbSNP |
12 | g.101760122T>A | CA386294886 | GNPTAB | c.3157A>T (p.Met1053Leu) n.23A>T c.3076A>T (p.Met1026Leu) c.2941A>T (p.Met981Leu) c.1930A>T (p.Met644Leu) | gnomAD v4 |
12 | g.101760122T>C | CA6746243 | GNPTAB | c.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 |
12 | g.101760122T>G | CA386294888 | GNPTAB | c.3157A>C (p.Met1053Leu) n.23A>C c.3076A>C (p.Met1026Leu) c.2941A>C (p.Met981Leu) c.1930A>C (p.Met644Leu) | |
12 | g.101760122T= | CA2058954325 | GNPTAB | c.3157A= (p.Met1053=) n.23A= c.3076A= (p.Met1026=) c.2941A= (p.Met981=) c.1930A= (p.Met644=) | |
12 | g.101760125_101760126dup | CA2620428020 | GNPTAB | c.3156_3157dup (p.Met1053ThrfsTer3) n.22_23dup c.3075_3076dup (p.Met1026ThrfsTer3) c.2940_2941dup (p.Met981ThrfsTer3) c.1929_1930dup (p.Met644ThrfsTer3) | gnomAD v4 |
12 | g.101760123G>A | CA6746244 | GNPTAB | c.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 |
12 | g.101760123G>C | CA386294891 | GNPTAB | c.3156C>G (p.His1052Gln) n.22C>G c.3075C>G (p.His1025Gln) c.2940C>G (p.His980Gln) c.1929C>G (p.His643Gln) | |
12 | g.101760123G= | CA2058954328 | GNPTAB | c.3156C= (p.His1052=) n.22C= c.3075C= (p.His1025=) c.2940C= (p.His980=) c.1929C= (p.His643=) | |
12 | g.101760123G>T | CA386294893 | GNPTAB | c.3156C>A (p.His1052Gln) n.22C>A c.3075C>A (p.His1025Gln) c.2940C>A (p.His980Gln) c.1929C>A (p.His643Gln) | |
12 | g.101760124T>A | CA386294895 | GNPTAB | c.3155A>T (p.His1052Leu) n.21A>T c.3074A>T (p.His1025Leu) c.2939A>T (p.His980Leu) c.1928A>T (p.His643Leu) | |
12 | g.101760124T>C | CA6746245 | GNPTAB | c.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 |
12 | g.101760124T>G | CA386294898 | GNPTAB | c.3155A>C (p.His1052Pro) n.21A>C c.3074A>C (p.His1025Pro) c.2939A>C (p.His980Pro) c.1928A>C (p.His643Pro) | |
12 | g.101760124T= | CA2058954333 | GNPTAB | c.3155A= (p.His1052=) n.21A= c.3074A= (p.His1025=) c.2939A= (p.His980=) c.1928A= (p.His643=) | |
12 | g.101760125G>A | CA386294901 | GNPTAB | c.3154C>T (p.His1052Tyr) n.20C>T c.3073C>T (p.His1025Tyr) c.2938C>T (p.His980Tyr) c.1927C>T (p.His643Tyr) | |
12 | g.101760125G>C | CA386294902 | GNPTAB | c.3154C>G (p.His1052Asp) n.20C>G c.3073C>G (p.His1025Asp) c.2938C>G (p.His980Asp) c.1927C>G (p.His643Asp) | |
12 | g.101760125G>T | CA386294904 | GNPTAB | c.3154C>A (p.His1052Asn) n.20C>A c.3073C>A (p.His1025Asn) c.2938C>A (p.His980Asn) c.1927C>A (p.His643Asn) | gnomAD v4 |
12 | g.101760126T>A | CA386294905 | GNPTAB | c.3153A>T (p.Glu1051Asp) n.19A>T c.3072A>T (p.Glu1024Asp) c.2937A>T (p.Glu979Asp) c.1926A>T (p.Glu642Asp) | |
12 | g.101760126T>C | CA481318570 | GNPTAB | c.3153A>G (p.Glu1051=) n.19A>G c.3072A>G (p.Glu1024=) c.2937A>G (p.Glu979=) c.1926A>G (p.Glu642=) | ClinVar |
12 | g.101760126T>G | CA386294907 | GNPTAB | c.3153A>C (p.Glu1051Asp) n.19A>C c.3072A>C (p.Glu1024Asp) c.2937A>C (p.Glu979Asp) c.1926A>C (p.Glu642Asp) | |
12 | g.101760127T>A | CA386294909 | GNPTAB | c.3152A>T (p.Glu1051Val) n.18A>T c.3071A>T (p.Glu1024Val) c.2936A>T (p.Glu979Val) c.1925A>T (p.Glu642Val) | |
12 | g.101760127T>C | CA386294913 | GNPTAB | c.3152A>G (p.Glu1051Gly) n.18A>G c.3071A>G (p.Glu1024Gly) c.2936A>G (p.Glu979Gly) c.1925A>G (p.Glu642Gly) | gnomAD v4 |
12 | g.101760127T>G | CA386294911 | GNPTAB | c.3152A>C (p.Glu1051Ala) n.18A>C c.3071A>C (p.Glu1024Ala) c.2936A>C (p.Glu979Ala) c.1925A>C (p.Glu642Ala) | |
12 | g.101760128C>A | CA386294915 | GNPTAB | c.3151G>T (p.Glu1051Ter) n.17G>T c.3070G>T (p.Glu1024Ter) c.2935G>T (p.Glu979Ter) c.1924G>T (p.Glu642Ter) | |
12 | g.101760128C>G | CA386294917 | GNPTAB | c.3151G>C (p.Glu1051Gln) n.17G>C c.3070G>C (p.Glu1024Gln) c.2935G>C (p.Glu979Gln) c.1924G>C (p.Glu642Gln) | |
12 | g.101760128C>T | CA386294919 | GNPTAB | c.3151G>A (p.Glu1051Lys) n.17G>A c.3070G>A (p.Glu1024Lys) c.2935G>A (p.Glu979Lys) c.1924G>A (p.Glu642Lys) | gnomAD v4 |
12 | g.101760129del | CA2620428054 | GNPTAB | c.3151del (p.Glu1051AsnfsTer4) n.17del c.3070del (p.Glu1024AsnfsTer4) c.2935del (p.Glu979AsnfsTer4) c.1924del (p.Glu642AsnfsTer4) | gnomAD v4 |
12 | g.101760129C>A | CA481318574 | GNPTAB | c.3150G>T (p.Leu1050=) n.16G>T c.3069G>T (p.Leu1023=) c.2934G>T (p.Leu978=) c.1923G>T (p.Leu641=) | |
12 | g.101760129C>G | CA481318576 | GNPTAB | c.3150G>C (p.Leu1050=) n.16G>C c.3069G>C (p.Leu1023=) c.2934G>C (p.Leu978=) c.1923G>C (p.Leu641=) | |
12 | g.101760129C>T | CA481318577 | GNPTAB | c.3150G>A (p.Leu1050=) n.16G>A c.3069G>A (p.Leu1023=) c.2934G>A (p.Leu978=) c.1923G>A (p.Leu641=) | ClinVar dbSNP |
12 | g.101760129_101760130delinsCA | CA2058954336 | GNPTAB | c.3149_3150delinsTG (p.Leu1050=) n.15_16delinsTG c.3068_3069delinsTG (p.Leu1023=) c.2933_2934delinsTG (p.Leu978=) c.1922_1923delinsTG (p.Leu641=) | |
12 | g.101760130del | CA6746246 | GNPTAB | c.3149del (p.Leu1050ArgfsTer5) n.15del c.3068del (p.Leu1023ArgfsTer5) c.2933del (p.Leu978ArgfsTer5) c.1922del (p.Leu641ArgfsTer5) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.101760130A= | CA2058954340 | GNPTAB | c.3149T= (p.Leu1050=) n.15T= c.3068T= (p.Leu1023=) c.2933T= (p.Leu978=) c.1922T= (p.Leu641=) | |
12 | g.101760130A>C | CA386294921 | GNPTAB | c.3149T>G (p.Leu1050Arg) n.15T>G c.3068T>G (p.Leu1023Arg) c.2933T>G (p.Leu978Arg) c.1922T>G (p.Leu641Arg) | |
12 | g.101760130A>G | CA6746247 | GNPTAB | c.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 |
12 | g.101760130A>T | CA386294924 | GNPTAB | c.3149T>A (p.Leu1050Gln) n.15T>A c.3068T>A (p.Leu1023Gln) c.2933T>A (p.Leu978Gln) c.1922T>A (p.Leu641Gln) | |
12 | g.101760131G>A | CA481318580 | GNPTAB | c.3148C>T (p.Leu1050=) n.14C>T c.3067C>T (p.Leu1023=) c.2932C>T (p.Leu978=) c.1921C>T (p.Leu641=) | ClinVar |
12 | g.101760131G>C | CA386294926 | GNPTAB | c.3148C>G (p.Leu1050Val) n.14C>G c.3067C>G (p.Leu1023Val) c.2932C>G (p.Leu978Val) c.1921C>G (p.Leu641Val) | |
12 | g.101760131G= | CA2058954343 | GNPTAB | c.3148C= (p.Leu1050=) n.14C= c.3067C= (p.Leu1023=) c.2932C= (p.Leu978=) c.1921C= (p.Leu641=) | |
12 | g.101760131G>T | CA386294928 | GNPTAB | c.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 |
12 | g.101760132A>C | CA481318585 | GNPTAB | c.3147T>G (p.Gly1049=) n.13T>G c.3066T>G (p.Gly1022=) c.2931T>G (p.Gly977=) c.1920T>G (p.Gly640=) | |
12 | g.101760132A>G | CA481318586 | GNPTAB | c.3147T>C (p.Gly1049=) n.13T>C c.3066T>C (p.Gly1022=) c.2931T>C (p.Gly977=) c.1920T>C (p.Gly640=) | ClinVar dbSNP |
12 | g.101760132A>T | CA481318587 | GNPTAB | c.3147T>A (p.Gly1049=) n.13T>A c.3066T>A (p.Gly1022=) c.2931T>A (p.Gly977=) c.1920T>A (p.Gly640=) | ClinVar dbSNP |
12 | g.101760133C>A | CA386294929 | GNPTAB | c.3146G>T (p.Gly1049Val) n.12G>T c.3065G>T (p.Gly1022Val) c.2930G>T (p.Gly977Val) c.1919G>T (p.Gly640Val) | |
12 | g.101760133C= | CA2058954347 | GNPTAB | c.3146G= (p.Gly1049=) n.12G= c.3065G= (p.Gly1022=) c.2930G= (p.Gly977=) c.1919G= (p.Gly640=) | |
12 | g.101760133C>G | CA386294931 | GNPTAB | c.3146G>C (p.Gly1049Ala) n.12G>C c.3065G>C (p.Gly1022Ala) c.2930G>C (p.Gly977Ala) c.1919G>C (p.Gly640Ala) | |
12 | g.101760133C>T | CA386294933 | GNPTAB | c.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 |
12 | g.101760133_101760134insG | CA343074 | GNPTAB | c.3145_3146insC (p.Gly1049AlafsTer16) n.11_12insC c.3064_3065insC (p.Gly1022AlafsTer16) c.2929_2930insC (p.Gly977AlafsTer16) c.1918_1919insC (p.Gly640AlafsTer16) | ClinVar dbSNP |
12 | g.101760134C>A | CA386294936 | GNPTAB | c.3145G>T (p.Gly1049Cys) n.11G>T c.3064G>T (p.Gly1022Cys) c.2929G>T (p.Gly977Cys) c.1918G>T (p.Gly640Cys) | |
12 | g.101760134C>G | CA386294939 | GNPTAB | c.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 |
12 | g.101760134C>T | CA386294937 | GNPTAB | c.3145G>A (p.Gly1049Ser) n.11G>A c.3064G>A (p.Gly1022Ser) c.2929G>A (p.Gly977Ser) c.1918G>A (p.Gly640Ser) | gnomAD v4 |
12 | g.101760134_101760135insG | CA2695217197 | GNPTAB | c.3144_3145insC (p.Gly1049ArgfsTer16) n.10_11insC c.3063_3064insC (p.Gly1022ArgfsTer16) c.2928_2929insC (p.Gly977ArgfsTer16) c.1917_1918insC (p.Gly640ArgfsTer16) | |
12 | g.101760135T>A | CA481318592 | GNPTAB | c.3144A>T (p.Thr1048=) n.10A>T c.3063A>T (p.Thr1021=) c.2928A>T (p.Thr976=) c.1917A>T (p.Thr639=) | |
12 | g.101760135T>C | CA481318593 | GNPTAB | c.3144A>G (p.Thr1048=) n.10A>G c.3063A>G (p.Thr1021=) c.2928A>G (p.Thr976=) c.1917A>G (p.Thr639=) | gnomAD v4 |
12 | g.101760135T>G | CA481318594 | GNPTAB | c.3144A>C (p.Thr1048=) n.10A>C c.3063A>C (p.Thr1021=) c.2928A>C (p.Thr976=) c.1917A>C (p.Thr639=) | |
12 | g.101760136G>A | CA386294942 | GNPTAB | c.3143C>T (p.Thr1048Ile) n.9C>T c.3062C>T (p.Thr1021Ile) c.2927C>T (p.Thr976Ile) c.1916C>T (p.Thr639Ile) | gnomAD v4 |
12 | g.101760136G>C | CA386294944 | GNPTAB | c.3143C>G (p.Thr1048Arg) n.9C>G c.3062C>G (p.Thr1021Arg) c.2927C>G (p.Thr976Arg) c.1916C>G (p.Thr639Arg) | COSMIC |
12 | g.101760136G>T | CA386294945 | GNPTAB | c.3143C>A (p.Thr1048Lys) n.9C>A c.3062C>A (p.Thr1021Lys) c.2927C>A (p.Thr976Lys) c.1916C>A (p.Thr639Lys) | gnomAD v4 |
12 | g.101760137T>A | CA386294947 | GNPTAB | c.3142A>T (p.Thr1048Ser) n.8A>T c.3061A>T (p.Thr1021Ser) c.2926A>T (p.Thr976Ser) c.1915A>T (p.Thr639Ser) | |
12 | g.101760137T>C | CA386294949 | GNPTAB | c.3142A>G (p.Thr1048Ala) n.8A>G c.3061A>G (p.Thr1021Ala) c.2926A>G (p.Thr976Ala) c.1915A>G (p.Thr639Ala) | |
12 | g.101760137T>G | CA386294951 | GNPTAB | c.3142A>C (p.Thr1048Pro) n.8A>C c.3061A>C (p.Thr1021Pro) c.2926A>C (p.Thr976Pro) c.1915A>C (p.Thr639Pro) |