Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101770477_101770480del | CA2620452059 | GNPTAB | c.1041_1044del (p.Phe347LeufsTer11) c.960_963del (p.Phe320LeufsTer11) c.825_828del (p.Phe275LeufsTer11) c.-187_-184del (n.-187_-184del) | gnomAD v4 |
12 | g.101770479A>C | CA386303143 | GNPTAB | c.1040T>G (p.Phe347Cys) c.959T>G (p.Phe320Cys) c.824T>G (p.Phe275Cys) c.-188T>G (n.-188T>G) | |
12 | g.101770479A>G | CA386303144 | GNPTAB | c.1040T>C (p.Phe347Ser) c.959T>C (p.Phe320Ser) c.824T>C (p.Phe275Ser) c.-188T>C (n.-188T>C) | |
12 | g.101770479A>T | CA386303146 | GNPTAB | c.1040T>A (p.Phe347Tyr) c.959T>A (p.Phe320Tyr) c.824T>A (p.Phe275Tyr) c.-188T>A (n.-188T>A) | |
12 | g.101770480A>C | CA386303147 | GNPTAB | c.1039T>G (p.Phe347Val) c.958T>G (p.Phe320Val) c.823T>G (p.Phe275Val) c.-189T>G (n.-189T>G) | |
12 | g.101770480A>G | CA386303149 | GNPTAB | c.1039T>C (p.Phe347Leu) c.958T>C (p.Phe320Leu) c.823T>C (p.Phe275Leu) c.-189T>C (n.-189T>C) | |
12 | g.101770480A>T | CA386303151 | GNPTAB | c.1039T>A (p.Phe347Ile) c.958T>A (p.Phe320Ile) c.823T>A (p.Phe275Ile) c.-189T>A (n.-189T>A) | |
12 | g.101770481A= | CA2058957999 | GNPTAB | c.1038T= (p.Ile346=) c.957T= (p.Ile319=) c.822T= (p.Ile274=) c.-190T= (n.-190T=) | |
12 | g.101770481A>C | CA386303152 | GNPTAB | c.1038T>G (p.Ile346Met) c.957T>G (p.Ile319Met) c.822T>G (p.Ile274Met) c.-190T>G (n.-190T>G) | |
12 | g.101770481A>G | CA481320728 | GNPTAB | c.1038T>C (p.Ile346=) c.957T>C (p.Ile319=) c.822T>C (p.Ile274=) c.-190T>C (n.-190T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770481A>T | CA481320729 | GNPTAB | c.1038T>A (p.Ile346=) c.957T>A (p.Ile319=) c.822T>A (p.Ile274=) c.-190T>A (n.-190T>A) | |
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.101770482A>C | CA386303158 | GNPTAB | c.1037T>G (p.Ile346Ser) c.956T>G (p.Ile319Ser) c.821T>G (p.Ile274Ser) c.-191T>G (n.-191T>G) | |
12 | g.101770482A>G | CA386303154 | GNPTAB | c.1037T>C (p.Ile346Thr) c.956T>C (p.Ile319Thr) c.821T>C (p.Ile274Thr) c.-191T>C (n.-191T>C) | COSMIC COSMIC |
12 | g.101770482A>T | CA386303156 | GNPTAB | c.1037T>A (p.Ile346Asn) c.956T>A (p.Ile319Asn) c.821T>A (p.Ile274Asn) c.-191T>A (n.-191T>A) | |
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) | 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 |