Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.134661775C>A | CA369472377 | BPGM | c.268C>A (p.Arg90Ser) n.6821-640G>T | |
7 | g.134661775C= | CA1745206737 | BPGM | c.268C= (p.Arg90=) n.6821-640G= | |
7 | g.134661775C>G | CA369472378 | BPGM | c.268C>G (p.Arg90Gly) n.6821-640G>C | |
7 | g.134661775C>T | CA212935 | BPGM | c.268C>T (p.Arg90Cys) n.6821-640G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.134661776G>A | CA369472379 | BPGM | c.269G>A (p.Arg90His) n.6821-641C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.134661776G>C | CA369472380 | BPGM | c.269G>C (p.Arg90Pro) n.6821-641C>G | |
7 | g.134661776G= | CA1745206738 | BPGM | c.269G= (p.Arg90=) n.6821-641C= | |
7 | g.134661776G>T | CA4494671 | BPGM | c.269G>T (p.Arg90Leu) n.6821-641C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.134661777T>A | CA458162090 | BPGM | c.270T>A (p.Arg90=) n.6821-642A>T | |
7 | g.134661777T>C | CA458162091 | BPGM | c.270T>C (p.Arg90=) n.6821-642A>G | |
7 | g.134661777T>G | CA458162093 | BPGM | c.270T>G (p.Arg90=) n.6821-642A>C | |
7 | g.134661778C>A | CA369472381 | BPGM | c.271C>A (p.His91Asn) n.6821-643G>T | |
7 | g.134661778C>G | CA369472382 | BPGM | c.271C>G (p.His91Asp) n.6821-643G>C | |
7 | g.134661778C>T | CA369472383 | BPGM | c.271C>T (p.His91Tyr) n.6821-643G>A | |
7 | g.134661778_134661779delinsCA | CA1745206739 | BPGM | c.271_272delinsCA (p.His91=) n.6821-644_6821-643delinsTG | |
7 | g.134661779del | CA1107494834 | BPGM | c.272del (p.His91ProfsTer5) n.6821-644del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.134661779A>C | CA369472384 | BPGM | c.272A>C (p.His91Pro) n.6821-644T>G | |
7 | g.134661779A>G | CA369472385 | BPGM | c.272A>G (p.His91Arg) n.6821-644T>C | |
7 | g.134661779A>T | CA369472386 | BPGM | c.272A>T (p.His91Leu) n.6821-644T>A | |
7 | g.134661780del | CA2685009268 | BPGM | c.273del (p.Tyr92MetfsTer4) n.6821-645del | gnomAD v4 |
7 | g.134661780C>A | CA369472387 | BPGM | c.273C>A (p.His91Gln) n.6821-645G>T | |
7 | g.134661780C>G | CA369472388 | BPGM | c.273C>G (p.His91Gln) n.6821-645G>C | |
7 | g.134661780C>T | CA458162098 | BPGM | c.273C>T (p.His91=) n.6821-645G>A | dbSNP |
7 | g.134661781T>A | CA369472389 | BPGM | c.274T>A (p.Tyr92Asn) n.6821-646A>T | |
7 | g.134661781T>C | CA369472390 | BPGM | c.274T>C (p.Tyr92His) n.6821-646A>G | |
7 | g.134661781T>G | CA369472391 | BPGM | c.274T>G (p.Tyr92Asp) n.6821-646A>C | |
7 | g.134661782A>C | CA369472392 | BPGM | c.275A>C (p.Tyr92Ser) n.6821-647T>G | |
7 | g.134661782A>G | CA369472393 | BPGM | c.275A>G (p.Tyr92Cys) n.6821-647T>C | gnomAD v4 |
7 | g.134661782A>T | CA369472394 | BPGM | c.275A>T (p.Tyr92Phe) n.6821-647T>A | |
7 | g.134661783T>A | CA369472395 | BPGM | c.276T>A (p.Tyr92Ter) n.6821-648A>T | gnomAD v4 |
7 | g.134661783T>C | CA458162103 | BPGM | c.276T>C (p.Tyr92=) n.6821-648A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.134661783T>G | CA369472396 | BPGM | c.276T>G (p.Tyr92Ter) n.6821-648A>C | |
7 | g.134661783T= | CA1745206740 | BPGM | c.276T= (p.Tyr92=) n.6821-648A= | |
7 | g.134661784G>A | CA369472397 | BPGM | c.277G>A (p.Gly93Arg) n.6821-649C>T | |
7 | g.134661784G>C | CA369472398 | BPGM | c.277G>C (p.Gly93Arg) n.6821-649C>G | |
7 | g.134661784G>T | CA369472399 | BPGM | c.277G>T (p.Gly93Trp) n.6821-649C>A | |
7 | g.134661787del | CA2778013812 | BPGM | c.280del (p.Ala94ProfsTer2) n.6821-649del | |
7 | g.134661785G>A | CA369472402 | BPGM | c.278G>A (p.Gly93Glu) n.6821-650C>T | |
7 | g.134661785G>C | CA369472401 | BPGM | c.278G>C (p.Gly93Ala) n.6821-650C>G | |
7 | g.134661785G>T | CA369472400 | BPGM | c.278G>T (p.Gly93Val) n.6821-650C>A | |
7 | g.134661786G>A | CA458162107 | BPGM | c.279G>A (p.Gly93=) n.6821-651C>T | |
7 | g.134661786G>C | CA458162108 | BPGM | c.279G>C (p.Gly93=) n.6821-651C>G | |
7 | g.134661786G>T | CA458162109 | BPGM | c.279G>T (p.Gly93=) n.6821-651C>A | |
7 | g.134661787G>A | CA369472403 | BPGM | c.280G>A (p.Ala94Thr) n.6821-652C>T | gnomAD v4 |
7 | g.134661787G>C | CA369472404 | BPGM | c.280G>C (p.Ala94Pro) n.6821-652C>G | |
7 | g.134661787G>T | CA369472405 | BPGM | c.280G>T (p.Ala94Ser) n.6821-652C>A | |
7 | g.134661788C>A | CA4494672 | BPGM | c.281C>A (p.Ala94Asp) n.6821-653G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.134661788C= | CA1745206741 | BPGM | c.281C= (p.Ala94=) n.6821-653G= | |
7 | g.134661788C>G | CA369472406 | BPGM | c.281C>G (p.Ala94Gly) n.6821-653G>C | |
7 | g.134661788C>T | CA369472407 | BPGM | c.281C>T (p.Ala94Val) n.6821-653G>A | dbSNP gnomAD v2 gnomAD v4 |