Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.45511317dup | CA2743432840 | MMACHC,PRDX1 | c.*15dup (n.*15dup) c.*2102dup (n.*2102dup) | |
1 | g.45511317del | CA2645392982 | MMACHC,PRDX1 | c.*15del (n.*15del) c.*2102del (n.*2102del) | gnomAD v4 |
1 | g.45511316A>C | CA2645392985 | MMACHC,PRDX1 | c.*13T>G (n.*13T>G) c.*2101A>C (n.*2101A>C) | gnomAD v4 |
1 | g.45511317A= | CA2473784985 | MMACHC,PRDX1 | c.*12T= (n.*12T=) c.*2102A= (n.*2102A=) | |
1 | g.45511317A>C | CA2645392986 | MMACHC,PRDX1 | c.*12T>G (n.*12T>G) c.*2102A>C (n.*2102A>C) | gnomAD v4 |
1 | g.45511317A>G | CA827905 | MMACHC,PRDX1 | c.*12T>C (n.*12T>C) c.*2102A>G (n.*2102A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511318C>A | CA2645392987 | MMACHC,PRDX1 | c.*11G>T (n.*11G>T) c.*2103C>A (n.*2103C>A) | gnomAD v4 |
1 | g.45511318C= | CA2473784986 | MMACHC,PRDX1 | c.*11G= (n.*11G=) c.*2103C= (n.*2103C=) | |
1 | g.45511318C>T | CA522560281 | MMACHC,PRDX1 | c.*11G>A (n.*11G>A) c.*2103C>T (n.*2103C>T) | dbSNP gnomAD v2 |
1 | g.45511318_45511319delinsCA | CA2473784987 | MMACHC,PRDX1 | c.*10_*11delinsTG (n.*10_*11delinsTG) c.*2103_*2104delinsCA (n.*2103_*2104delinsCA) | |
1 | g.45511319del | CA2473784988 | MMACHC,PRDX1 | c.*10del (n.*10del) c.*2104del (n.*2104del) | dbSNP |
1 | g.45511319A>G | CA2574352306 | MMACHC,PRDX1 | c.*10T>C (n.*10T>C) c.*2104A>G (n.*2104A>G) | |
1 | g.45511320G>C | CA736194891 | MMACHC,PRDX1 | c.*9C>G (n.*9C>G) c.*2105G>C (n.*2105G>C) | dbSNP |
1 | g.45511320G= | CA2473784989 | MMACHC,PRDX1 | c.*9C= (n.*9C=) c.*2105G= (n.*2105G=) | |
1 | g.45511321C= | CA2473784990 | MMACHC,PRDX1 | c.*8G= (n.*8G=) c.*2106C= (n.*2106C=) | |
1 | g.45511321C>T | CA522560282 | MMACHC,PRDX1 | c.*8G>A (n.*8G>A) c.*2106C>T (n.*2106C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45511322C>A | CA2574352307 | MMACHC,PRDX1 | c.*7G>T (n.*7G>T) c.*2107C>A (n.*2107C>A) | gnomAD v4 |
1 | g.45511322C= | CA1147812500 | MMACHC,PRDX1 | c.*7G= (n.*7G=) c.*2107C= (n.*2107C=) | |
1 | g.45511322C>T | CA827906 | MMACHC,PRDX1 | c.*7G>A (n.*7G>A) c.*2107C>T (n.*2107C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511323C>G | CA2574352308 | MMACHC,PRDX1 | c.*6G>C (n.*6G>C) c.*2108C>G (n.*2108C>G) | |
1 | g.45511325G>C | CA522560284 | MMACHC,PRDX1 | c.*4C>G (n.*4C>G) c.*2110G>C (n.*2110G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45511325G= | CA2473784991 | MMACHC,PRDX1 | c.*4C= (n.*4C=) c.*2110G= (n.*2110G=) | |
1 | g.45511326C= | CA1143730542 | MMACHC,PRDX1 | c.*3G= (n.*3G=) c.*2111C= (n.*2111C=) | |
1 | g.45511326C>T | CA827907 | MMACHC,PRDX1 | c.*3G>A (n.*3G>A) c.*2111C>T (n.*2111C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511327G>A | CA522560285 | MMACHC,PRDX1 | c.*2C>T (n.*2C>T) c.*2112G>A (n.*2112G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511327G= | CA2473784992 | MMACHC,PRDX1 | c.*2C= (n.*2C=) c.*2112G= (n.*2112G=) | |
1 | g.45511329T>A | CA340135031 | MMACHC,PRDX1 | c.600A>T (p.Ter200Cys) c.*2114T>A (n.*2114T>A) c.294A>T (p.Ter98Cys) | |
1 | g.45511329T>C | CA340135032 | MMACHC,PRDX1 | c.600A>G (p.Ter200Trp) c.*2114T>C (n.*2114T>C) c.294A>G (p.Ter98Trp) | gnomAD v4 |
1 | g.45511329T>G | CA340135033 | MMACHC,PRDX1 | c.600A>C (p.Ter200Cys) c.*2114T>G (n.*2114T>G) c.294A>C (p.Ter98Cys) | |
1 | g.45511330C>A | CA340135034 | MMACHC,PRDX1 | c.599G>T (p.Ter200Leu) c.*2115C>A (n.*2115C>A) c.293G>T (p.Ter98Leu) | |
1 | g.45511330C= | CA2473784993 | MMACHC,PRDX1 | c.599G= (p.Ter200=) c.*2115C= (n.*2115C=) c.293G= (p.Ter98=) | |
1 | g.45511330C>G | CA340135035 | MMACHC,PRDX1 | c.599G>C (p.Ter200Ser) c.*2115C>G (n.*2115C>G) c.293G>C (p.Ter98Ser) | |
1 | g.45511330C>T | CA417706129 | MMACHC,PRDX1 | c.599G>A (p.Ter200=) c.*2115C>T (n.*2115C>T) c.293G>A (p.Ter98=) | gnomAD v4 |
1 | g.45511331A= | CA1149034901 | MMACHC,PRDX1 | c.598T= (p.Ter200=) c.*2116A= (n.*2116A=) c.292T= (p.Ter98=) | |
1 | g.45511331A>C | CA340135038 | MMACHC,PRDX1 | c.598T>G (p.Ter200Gly) c.*2116A>C (n.*2116A>C) c.292T>G (p.Ter98Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45511331A>G | CA340135037 | MMACHC,PRDX1 | c.598T>C (p.Ter200Arg) c.*2116A>G (n.*2116A>G) c.292T>C (p.Ter98Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511331A>T | CA340135036 | MMACHC,PRDX1 | c.598T>A (p.Ter200Arg) c.*2116A>T (n.*2116A>T) c.292T>A (p.Ter98Arg) | |
1 | g.45511331dup | CA827908 | MMACHC,PRDX1 | c.598dup (p.Ter200LeuextTer7) c.*2116dup (n.*2116dup) c.292dup (p.Ter98LeuextTer7) | dbSNP ExAC gnomAD v4 |
1 | g.45511332C>A | CA340135039 | MMACHC,PRDX1 | c.597G>T (p.Lys199Asn) c.*2117C>A (n.*2117C>A) c.291G>T (p.Lys97Asn) | |
1 | g.45511332C>G | CA340135040 | MMACHC,PRDX1 | c.597G>C (p.Lys199Asn) c.*2117C>G (n.*2117C>G) c.291G>C (p.Lys97Asn) | |
1 | g.45511332C>T | CA417706131 | MMACHC,PRDX1 | c.597G>A (p.Lys199=) c.*2117C>T (n.*2117C>T) c.291G>A (p.Lys97=) | gnomAD v4 |
1 | g.45511333T>A | CA340135041 | MMACHC,PRDX1 | c.596A>T (p.Lys199Met) c.*2118T>A (n.*2118T>A) c.290A>T (p.Lys97Met) | |
1 | g.45511333T>C | CA340135042 | MMACHC,PRDX1 | c.596A>G (p.Lys199Arg) c.*2118T>C (n.*2118T>C) c.290A>G (p.Lys97Arg) | |
1 | g.45511333T>G | CA340135043 | MMACHC,PRDX1 | c.596A>C (p.Lys199Thr) c.*2118T>G (n.*2118T>G) c.290A>C (p.Lys97Thr) | |
1 | g.45511334T>A | CA827909 | MMACHC,PRDX1 | c.595A>T (p.Lys199Ter) c.*2119T>A (n.*2119T>A) c.289A>T (p.Lys97Ter) | dbSNP ExAC |
1 | g.45511334T>C | CA340135044 | MMACHC,PRDX1 | c.595A>G (p.Lys199Glu) c.*2119T>C (n.*2119T>C) c.289A>G (p.Lys97Glu) | |
1 | g.45511334T>G | CA340135045 | MMACHC,PRDX1 | c.595A>C (p.Lys199Gln) c.*2119T>G (n.*2119T>G) c.289A>C (p.Lys97Gln) | |
1 | g.45511334T= | CA2473784994 | MMACHC,PRDX1 | c.595A= (p.Lys199=) c.*2119T= (n.*2119T=) c.289A= (p.Lys97=) | |
1 | g.45511335C>A | CA340135046 | MMACHC,PRDX1 | c.594G>T (p.Gln198His) c.*2120C>A (n.*2120C>A) c.288G>T (p.Gln96His) | gnomAD v4 |
1 | g.45511335C>G | CA340135047 | MMACHC,PRDX1 | c.594G>C (p.Gln198His) c.*2120C>G (n.*2120C>G) c.288G>C (p.Gln96His) |