| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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) | |
| 12 | g.101770502_101770505dup | CA6746732 | GNPTAB | c.1017_1020dup (p.Pro341CysfsTer22) c.936_939dup (p.Pro314CysfsTer22) c.801_804dup (p.Pro269CysfsTer22) c.-211_-208dup (n.-211_-208dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101770500G>A | CA386303212 | GNPTAB | c.1019C>T (p.Ala340Val) c.938C>T (p.Ala313Val) c.803C>T (p.Ala268Val) c.-209C>T (n.-209C>T) | |
| 12 | g.101770500G>C | CA386303213 | GNPTAB | c.1019C>G (p.Ala340Gly) c.938C>G (p.Ala313Gly) c.803C>G (p.Ala268Gly) c.-209C>G (n.-209C>G) | |
| 12 | g.101770500G>T | CA386303214 | GNPTAB | c.1019C>A (p.Ala340Glu) c.938C>A (p.Ala313Glu) c.803C>A (p.Ala268Glu) c.-209C>A (n.-209C>A) | |
| 12 | g.101770501C>A | CA386303217 | GNPTAB | c.1018G>T (p.Ala340Ser) c.937G>T (p.Ala313Ser) c.802G>T (p.Ala268Ser) c.-210G>T (n.-210G>T) | |
| 12 | g.101770501C= | CA2058958010 | GNPTAB | c.1018G= (p.Ala340=) c.937G= (p.Ala313=) c.802G= (p.Ala268=) c.-210G= (n.-210G=) | |
| 12 | g.101770501C>G | CA386303216 | GNPTAB | c.1018G>C (p.Ala340Pro) c.937G>C (p.Ala313Pro) c.802G>C (p.Ala268Pro) c.-210G>C (n.-210G>C) | |
| 12 | g.101770501C>T | CA386303215 | GNPTAB | c.1018G>A (p.Ala340Thr) c.937G>A (p.Ala313Thr) c.802G>A (p.Ala268Thr) c.-210G>A (n.-210G>A) | dbSNP |
| 12 | g.101770502A>C | CA386303218 | GNPTAB | c.1017T>G (p.His339Gln) c.936T>G (p.His312Gln) c.801T>G (p.His267Gln) c.-211T>G (n.-211T>G) | |
| 12 | g.101770502A>G | CA481320746 | GNPTAB | c.1017T>C (p.His339=) c.936T>C (p.His312=) c.801T>C (p.His267=) c.-211T>C (n.-211T>C) | |
| 12 | g.101770502A>T | CA386303219 | GNPTAB | c.1017T>A (p.His339Gln) c.936T>A (p.His312Gln) c.801T>A (p.His267Gln) c.-211T>A (n.-211T>A) | |
| 12 | g.101770503T>A | CA386303220 | GNPTAB | c.1016A>T (p.His339Leu) c.935A>T (p.His312Leu) c.800A>T (p.His267Leu) c.-212A>T (n.-212A>T) | |
| 12 | g.101770503T>C | CA6746734 | GNPTAB | c.1016A>G (p.His339Arg) c.935A>G (p.His312Arg) c.800A>G (p.His267Arg) c.-212A>G (n.-212A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770503T>G | CA386303221 | GNPTAB | c.1016A>C (p.His339Pro) c.935A>C (p.His312Pro) c.800A>C (p.His267Pro) c.-212A>C (n.-212A>C) | |
| 12 | g.101770503T= | CA2058958011 | GNPTAB | c.1016A= (p.His339=) c.935A= (p.His312=) c.800A= (p.His267=) c.-212A= (n.-212A=) | |
| 12 | g.101770503dup | CA2695217213 | GNPTAB | c.1016dup (p.His339GlnfsTer23) c.935dup (p.His312GlnfsTer23) c.800dup (p.His267GlnfsTer23) c.-212dup (n.-212dup) | |
| 12 | g.101770504G>A | CA386303222 | GNPTAB | c.1015C>T (p.His339Tyr) c.934C>T (p.His312Tyr) c.799C>T (p.His267Tyr) c.-213C>T (n.-213C>T) | |
| 12 | g.101770504G>C | CA386303223 | GNPTAB | c.1015C>G (p.His339Asp) c.934C>G (p.His312Asp) c.799C>G (p.His267Asp) c.-213C>G (n.-213C>G) | |
| 12 | g.101770504G>T | CA386303224 | GNPTAB | c.1015C>A (p.His339Asn) c.934C>A (p.His312Asn) c.799C>A (p.His267Asn) c.-213C>A (n.-213C>A) | |
| 12 | g.101770505C>A | CA6746735 | GNPTAB | c.1014G>T (p.Arg338Ser) c.933G>T (p.Arg311Ser) c.798G>T (p.Arg266Ser) c.-214G>T (n.-214G>T) | dbSNP ExAC gnomAD v4 |
| 12 | g.101770505C= | CA2058958012 | GNPTAB | c.1014G= (p.Arg338=) c.933G= (p.Arg311=) c.798G= (p.Arg266=) c.-214G= (n.-214G=) | |
| 12 | g.101770505C>G | CA386303225 | GNPTAB | c.1014G>C (p.Arg338Ser) c.933G>C (p.Arg311Ser) c.798G>C (p.Arg266Ser) c.-214G>C (n.-214G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770505C>T | CA481320747 | GNPTAB | c.1014G>A (p.Arg338=) c.933G>A (p.Arg311=) c.798G>A (p.Arg266=) c.-214G>A (n.-214G>A) | |
| 12 | g.101770506C>A | CA386303226 | GNPTAB | c.1013G>T (p.Arg338Met) c.932G>T (p.Arg311Met) c.797G>T (p.Arg266Met) c.-215G>T (n.-215G>T) | |
| 12 | g.101770506C>G | CA386303227 | GNPTAB | c.1013G>C (p.Arg338Thr) c.932G>C (p.Arg311Thr) c.797G>C (p.Arg266Thr) c.-215G>C (n.-215G>C) | |
| 12 | g.101770506C>T | CA386303228 | GNPTAB | c.1013G>A (p.Arg338Lys) c.932G>A (p.Arg311Lys) c.797G>A (p.Arg266Lys) c.-215G>A (n.-215G>A) | |
| 12 | g.101770507T>A | CA386303230 | GNPTAB | c.1012A>T (p.Arg338Trp) c.931A>T (p.Arg311Trp) c.796A>T (p.Arg266Trp) c.-216A>T (n.-216A>T) | |
| 12 | g.101770507T>C | CA386303229 | GNPTAB | c.1012A>G (p.Arg338Gly) c.931A>G (p.Arg311Gly) c.796A>G (p.Arg266Gly) c.-216A>G (n.-216A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101770507T>G | CA481320748 | GNPTAB | c.1012A>C (p.Arg338=) c.931A>C (p.Arg311=) c.796A>C (p.Arg266=) c.-216A>C (n.-216A>C) | |
| 12 | g.101770507T= | CA2058958013 | GNPTAB | c.1012A= (p.Arg338=) c.931A= (p.Arg311=) c.796A= (p.Arg266=) c.-216A= (n.-216A=) | |
| 12 | g.101770508del | CA2620452128 | GNPTAB | c.1011del (p.Arg338GlyfsTer21) c.930del (p.Arg311GlyfsTer21) c.795del (p.Arg266GlyfsTer21) c.-217del (n.-217del) | gnomAD v4 |
| 12 | g.101770508C>A | CA386303231 | GNPTAB | c.1011G>T (p.Glu337Asp) c.930G>T (p.Glu310Asp) c.795G>T (p.Glu265Asp) c.-217G>T (n.-217G>T) | |
| 12 | g.101770508C= | CA2058958014 | GNPTAB | c.1011G= (p.Glu337=) c.930G= (p.Glu310=) c.795G= (p.Glu265=) c.-217G= (n.-217G=) | |
| 12 | g.101770508C>G | CA6746736 | GNPTAB | c.1011G>C (p.Glu337Asp) c.930G>C (p.Glu310Asp) c.795G>C (p.Glu265Asp) c.-217G>C (n.-217G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770508C>T | CA481320749 | GNPTAB | c.1011G>A (p.Glu337=) c.930G>A (p.Glu310=) c.795G>A (p.Glu265=) c.-217G>A (n.-217G>A) | |
| 12 | g.101770509T>A | CA386303232 | GNPTAB | c.1010A>T (p.Glu337Val) c.929A>T (p.Glu310Val) c.794A>T (p.Glu265Val) c.-218A>T (n.-218A>T) | |
| 12 | g.101770509T>C | CA386303233 | GNPTAB | c.1010A>G (p.Glu337Gly) c.929A>G (p.Glu310Gly) c.794A>G (p.Glu265Gly) c.-218A>G (n.-218A>G) | |
| 12 | g.101770509T>G | CA386303234 | GNPTAB | c.1010A>C (p.Glu337Ala) c.929A>C (p.Glu310Ala) c.794A>C (p.Glu265Ala) c.-218A>C (n.-218A>C) | |
| 12 | g.101770510C>A | CA386303235 | GNPTAB | c.1009G>T (p.Glu337Ter) c.928G>T (p.Glu310Ter) c.793G>T (p.Glu265Ter) c.-219G>T (n.-219G>T) |