Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101770481_101770483delinsAAT | CA2058957998 | GNPTAB | c.1036_1038delinsATT (p.Ile346=) c.955_957delinsATT (p.Ile319=) c.820_822delinsATT (p.Ile274=) c.-192_-190delinsATT (n.-192_-190delinsATT) | |
12 | g.101770484_101770485del | CA223749 | GNPTAB | c.1036_1037del (p.Ile346PhefsTer15) c.955_956del (p.Ile319PhefsTer15) c.820_821del (p.Ile274PhefsTer15) c.-192_-191del (n.-192_-191del) | ClinVar dbSNP |
12 | g.101770483T>A | CA386303159 | GNPTAB | c.1036A>T (p.Ile346Phe) c.955A>T (p.Ile319Phe) c.820A>T (p.Ile274Phe) c.-192A>T (n.-192A>T) | |
12 | g.101770483T>C | CA386303161 | GNPTAB | c.1036A>G (p.Ile346Val) c.955A>G (p.Ile319Val) c.820A>G (p.Ile274Val) c.-192A>G (n.-192A>G) | |
12 | g.101770483T>G | CA386303163 | GNPTAB | c.1036A>C (p.Ile346Leu) c.955A>C (p.Ile319Leu) c.820A>C (p.Ile274Leu) c.-192A>C (n.-192A>C) | |
12 | g.101770484A>C | CA386303165 | GNPTAB | c.1035T>G (p.Asn345Lys) c.954T>G (p.Asn318Lys) c.819T>G (p.Asn273Lys) c.-193T>G (n.-193T>G) | |
12 | g.101770484A>G | CA481320731 | GNPTAB | c.1035T>C (p.Asn345=) c.954T>C (p.Asn318=) c.819T>C (p.Asn273=) c.-193T>C (n.-193T>C) | |
12 | g.101770484A>T | CA386303166 | GNPTAB | c.1035T>A (p.Asn345Lys) c.954T>A (p.Asn318Lys) c.819T>A (p.Asn273Lys) c.-193T>A (n.-193T>A) | |
12 | g.101770485T>A | CA386303168 | GNPTAB | c.1034A>T (p.Asn345Ile) c.953A>T (p.Asn318Ile) c.818A>T (p.Asn273Ile) c.-194A>T (n.-194A>T) | |
12 | g.101770485T>C | CA6746728 | GNPTAB | c.1034A>G (p.Asn345Ser) c.953A>G (p.Asn318Ser) c.818A>G (p.Asn273Ser) c.-194A>G (n.-194A>G) | dbSNP ExAC gnomAD v2 |
12 | g.101770485T>G | CA386303169 | GNPTAB | c.1034A>C (p.Asn345Thr) c.953A>C (p.Asn318Thr) c.818A>C (p.Asn273Thr) c.-194A>C (n.-194A>C) | |
12 | g.101770485T= | CA2058958000 | GNPTAB | c.1034A= (p.Asn345=) c.953A= (p.Asn318=) c.818A= (p.Asn273=) c.-194A= (n.-194A=) | |
12 | g.101770486T>A | CA386303171 | GNPTAB | c.1033A>T (p.Asn345Tyr) c.952A>T (p.Asn318Tyr) c.817A>T (p.Asn273Tyr) c.-195A>T (n.-195A>T) | |
12 | g.101770486T>C | CA386303172 | GNPTAB | c.1033A>G (p.Asn345Asp) c.952A>G (p.Asn318Asp) c.817A>G (p.Asn273Asp) c.-195A>G (n.-195A>G) | |
12 | g.101770486T>G | CA386303173 | GNPTAB | c.1033A>C (p.Asn345His) c.952A>C (p.Asn318His) c.817A>C (p.Asn273His) c.-195A>C (n.-195A>C) | |
12 | g.101770486_101770487del | CA912973305 | GNPTAB | c.1032_1033del (p.Asn345TyrfsTer16) c.951_952del (p.Asn318TyrfsTer16) c.816_817del (p.Asn273TyrfsTer16) c.-196_-195del (n.-196_-195del) | |
12 | g.101770486_101770487delinsTC | CA2058958001 | GNPTAB | c.1032_1033delinsGA (p.Arg344=) c.951_952delinsGA (p.Arg317=) c.816_817delinsGA (p.Arg272=) c.-196_-195delinsGA (n.-196_-195delinsGA) | |
12 | g.101770487C>A | CA481320733 | GNPTAB | c.1032G>T (p.Arg344=) c.951G>T (p.Arg317=) c.816G>T (p.Arg272=) c.-196G>T (n.-196G>T) | |
12 | g.101770487C>G | CA481320734 | GNPTAB | c.1032G>C (p.Arg344=) c.951G>C (p.Arg317=) c.816G>C (p.Arg272=) c.-196G>C (n.-196G>C) | |
12 | g.101770487C>T | CA481320735 | GNPTAB | c.1032G>A (p.Arg344=) c.951G>A (p.Arg317=) c.816G>A (p.Arg272=) c.-196G>A (n.-196G>A) | |
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) |