Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101770488del | CA658822545 | GNPTAB | c.1032del (p.Asn345IlefsTer14) c.951del (p.Asn318IlefsTer14) c.816del (p.Asn273IlefsTer14) c.-196del (n.-196del) | ClinVar dbSNP |
12 | g.101770488C>A | CA386303176 | GNPTAB | c.1031G>T (p.Arg344Leu) c.950G>T (p.Arg317Leu) c.815G>T (p.Arg272Leu) c.-197G>T (n.-197G>T) | gnomAD v4 |
12 | g.101770488C= | CA2058958002 | GNPTAB | c.1031G= (p.Arg344=) c.950G= (p.Arg317=) c.815G= (p.Arg272=) c.-197G= (n.-197G=) | |
12 | g.101770488C>G | CA386303178 | GNPTAB | c.1031G>C (p.Arg344Pro) c.950G>C (p.Arg317Pro) c.815G>C (p.Arg272Pro) c.-197G>C (n.-197G>C) | |
12 | g.101770488C>T | CA386303174 | GNPTAB | c.1031G>A (p.Arg344Gln) c.950G>A (p.Arg317Gln) c.815G>A (p.Arg272Gln) c.-197G>A (n.-197G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.101770489G>A | CA386303181 | GNPTAB | c.1030C>T (p.Arg344Trp) c.949C>T (p.Arg317Trp) c.814C>T (p.Arg272Trp) c.-198C>T (n.-198C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770489G>C | CA386303179 | GNPTAB | c.1030C>G (p.Arg344Gly) c.949C>G (p.Arg317Gly) c.814C>G (p.Arg272Gly) c.-198C>G (n.-198C>G) | |
12 | g.101770489G= | CA2058958003 | GNPTAB | c.1030C= (p.Arg344=) c.949C= (p.Arg317=) c.814C= (p.Arg272=) c.-198C= (n.-198C=) | |
12 | g.101770489G>T | CA481320736 | GNPTAB | c.1030C>A (p.Arg344=) c.949C>A (p.Arg317=) c.814C>A (p.Arg272=) c.-198C>A (n.-198C>A) | |
12 | g.101770490A>C | CA481320737 | GNPTAB | c.1029T>G (p.Val343=) c.948T>G (p.Val316=) c.813T>G (p.Val271=) c.-199T>G (n.-199T>G) | gnomAD v4 |
12 | g.101770490A>G | CA481320738 | GNPTAB | c.1029T>C (p.Val343=) c.948T>C (p.Val316=) c.813T>C (p.Val271=) c.-199T>C (n.-199T>C) | |
12 | g.101770490A>T | CA481320739 | GNPTAB | c.1029T>A (p.Val343=) c.948T>A (p.Val316=) c.813T>A (p.Val271=) c.-199T>A (n.-199T>A) | |
12 | g.101770491A>C | CA386303184 | GNPTAB | c.1028T>G (p.Val343Gly) c.947T>G (p.Val316Gly) c.812T>G (p.Val271Gly) c.-200T>G (n.-200T>G) | |
12 | g.101770491A>G | CA386303182 | GNPTAB | c.1028T>C (p.Val343Ala) c.947T>C (p.Val316Ala) c.812T>C (p.Val271Ala) c.-200T>C (n.-200T>C) | |
12 | g.101770491A>T | CA386303183 | GNPTAB | c.1028T>A (p.Val343Asp) c.947T>A (p.Val316Asp) c.812T>A (p.Val271Asp) c.-200T>A (n.-200T>A) | |
12 | g.101770492C>A | CA6746729 | GNPTAB | c.1027G>T (p.Val343Phe) c.946G>T (p.Val316Phe) c.811G>T (p.Val271Phe) c.-201G>T (n.-201G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770492C= | CA2058958004 | GNPTAB | c.1027G= (p.Val343=) c.946G= (p.Val316=) c.811G= (p.Val271=) c.-201G= (n.-201G=) | |
12 | g.101770492C>G | CA386303185 | GNPTAB | c.1027G>C (p.Val343Leu) c.946G>C (p.Val316Leu) c.811G>C (p.Val271Leu) c.-201G>C (n.-201G>C) | |
12 | g.101770492C>T | CA6746730 | GNPTAB | c.1027G>A (p.Val343Ile) c.946G>A (p.Val316Ile) c.811G>A (p.Val271Ile) c.-201G>A (n.-201G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770493C>A | CA386303187 | GNPTAB | c.1026G>T (p.Trp342Cys) c.945G>T (p.Trp315Cys) c.810G>T (p.Trp270Cys) c.-202G>T (n.-202G>T) | gnomAD v4 |
12 | g.101770493C= | CA2058958005 | GNPTAB | c.1026G= (p.Trp342=) c.945G= (p.Trp315=) c.810G= (p.Trp270=) c.-202G= (n.-202G=) | |
12 | g.101770493C>G | CA386303189 | GNPTAB | c.1026G>C (p.Trp342Cys) c.945G>C (p.Trp315Cys) c.810G>C (p.Trp270Cys) c.-202G>C (n.-202G>C) | |
12 | g.101770493C>T | CA386303190 | GNPTAB | c.1026G>A (p.Trp342Ter) c.945G>A (p.Trp315Ter) c.810G>A (p.Trp270Ter) c.-202G>A (n.-202G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.101770494C>A | CA386303191 | GNPTAB | c.1025G>T (p.Trp342Leu) c.944G>T (p.Trp315Leu) c.809G>T (p.Trp270Leu) c.-203G>T (n.-203G>T) | |
12 | g.101770494C>G | CA386303193 | GNPTAB | c.1025G>C (p.Trp342Ser) c.944G>C (p.Trp315Ser) c.809G>C (p.Trp270Ser) c.-203G>C (n.-203G>C) | |
12 | g.101770494C>T | CA386303194 | GNPTAB | c.1025G>A (p.Trp342Ter) c.944G>A (p.Trp315Ter) c.809G>A (p.Trp270Ter) c.-203G>A (n.-203G>A) | |
12 | g.101770495A= | CA2058958006 | GNPTAB | c.1024T= (p.Trp342=) c.943T= (p.Trp315=) c.808T= (p.Trp270=) c.-204T= (n.-204T=) | |
12 | g.101770495A>C | CA386303200 | GNPTAB | c.1024T>G (p.Trp342Gly) c.943T>G (p.Trp315Gly) c.808T>G (p.Trp270Gly) c.-204T>G (n.-204T>G) | |
12 | g.101770495A>G | CA386303198 | GNPTAB | c.1024T>C (p.Trp342Arg) c.943T>C (p.Trp315Arg) c.808T>C (p.Trp270Arg) c.-204T>C (n.-204T>C) | dbSNP |
12 | g.101770495A>T | CA386303196 | GNPTAB | c.1024T>A (p.Trp342Arg) c.943T>A (p.Trp315Arg) c.808T>A (p.Trp270Arg) c.-204T>A (n.-204T>A) | |
12 | g.101770495_101770498delinsATGG | CA2058958007 | GNPTAB | c.1021_1024delinsCCAT (p.Pro341=) c.940_943delinsCCAT (p.Pro314=) c.805_808delinsCCAT (p.Pro269=) c.-207_-204delinsCCAT (n.-207_-204delinsCCAT) | |
12 | g.101770496T>A | CA481320740 | GNPTAB | c.1023A>T (p.Pro341=) c.942A>T (p.Pro314=) c.807A>T (p.Pro269=) c.-205A>T (n.-205A>T) | |
12 | g.101770496T>C | CA6746731 | GNPTAB | c.1023A>G (p.Pro341=) c.942A>G (p.Pro314=) c.807A>G (p.Pro269=) c.-205A>G (n.-205A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770496T>G | CA481320742 | GNPTAB | c.1023A>C (p.Pro341=) c.942A>C (p.Pro314=) c.807A>C (p.Pro269=) c.-205A>C (n.-205A>C) | ClinVar |
12 | g.101770496T= | CA2058958008 | GNPTAB | c.1023A= (p.Pro341=) c.942A= (p.Pro314=) c.807A= (p.Pro269=) c.-205A= (n.-205A=) | |
12 | g.101770496dup | CA682731465 | GNPTAB | c.1023dup (p.Trp342MetfsTer20) c.942dup (p.Trp315MetfsTer20) c.807dup (p.Trp270MetfsTer20) c.-205dup (n.-205dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770498_101770500del | CA16609433 | GNPTAB | c.1021_1023del (p.Pro341del) c.940_942del (p.Pro314del) c.805_807del (p.Pro269del) c.-207_-205del (n.-207_-205del) | ClinVar dbSNP |
12 | g.101770497G>A | CA386303203 | GNPTAB | c.1022C>T (p.Pro341Leu) c.941C>T (p.Pro314Leu) c.806C>T (p.Pro269Leu) c.-206C>T (n.-206C>T) | |
12 | g.101770497G>C | CA386303205 | GNPTAB | c.1022C>G (p.Pro341Arg) c.941C>G (p.Pro314Arg) c.806C>G (p.Pro269Arg) c.-206C>G (n.-206C>G) | |
12 | g.101770497G>T | CA386303206 | GNPTAB | c.1022C>A (p.Pro341Gln) c.941C>A (p.Pro314Gln) c.806C>A (p.Pro269Gln) c.-206C>A (n.-206C>A) | |
12 | g.101770498dup | CA912973306 | GNPTAB | c.1022dup (p.Trp342MetfsTer20) c.941dup (p.Trp315MetfsTer20) c.806dup (p.Trp270MetfsTer20) c.-206dup (n.-206dup) | |
12 | g.101770498del | CA2695217212 | GNPTAB | c.1022del (p.Pro341HisfsTer18) c.941del (p.Pro314HisfsTer18) c.806del (p.Pro269HisfsTer18) c.-206del (n.-206del) | |
12 | g.101770497_101770498insTGCA | CA242462565 | GNPTAB | c.1021_1022insTGCA (p.Pro341LeufsTer22) c.940_941insTGCA (p.Pro314LeufsTer22) c.805_806insTGCA (p.Pro269LeufsTer22) c.-207_-206insTGCA (n.-207_-206insTGCA) | |
12 | g.101770498G>A | CA6746733 | GNPTAB | c.1021C>T (p.Pro341Ser) c.940C>T (p.Pro314Ser) c.805C>T (p.Pro269Ser) c.-207C>T (n.-207C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770498G>C | CA386303210 | GNPTAB | c.1021C>G (p.Pro341Ala) c.940C>G (p.Pro314Ala) c.805C>G (p.Pro269Ala) c.-207C>G (n.-207C>G) | |
12 | g.101770498G= | CA2058958009 | GNPTAB | c.1021C= (p.Pro341=) c.940C= (p.Pro314=) c.805C= (p.Pro269=) c.-207C= (n.-207C=) | |
12 | g.101770498G>T | CA386303211 | GNPTAB | c.1021C>A (p.Pro341Thr) c.940C>A (p.Pro314Thr) c.805C>A (p.Pro269Thr) c.-207C>A (n.-207C>A) | COSMIC COSMIC |
12 | g.101770499T>A | CA481320745 | GNPTAB | c.1020A>T (p.Ala340=) c.939A>T (p.Ala313=) c.804A>T (p.Ala268=) c.-208A>T (n.-208A>T) | |
12 | g.101770499T>C | CA481320743 | GNPTAB | c.1020A>G (p.Ala340=) c.939A>G (p.Ala313=) c.804A>G (p.Ala268=) c.-208A>G (n.-208A>G) | |
12 | g.101770499T>G | CA481320744 | GNPTAB | c.1020A>C (p.Ala340=) c.939A>C (p.Ala313=) c.804A>C (p.Ala268=) c.-208A>C (n.-208A>C) |