Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.45511335C>T | CA417706132 | MMACHC,PRDX1 | c.594G>A (p.Gln198=) c.*2120C>T (n.*2120C>T) c.288G>A (p.Gln96=) | |
1 | g.45511336T>A | CA340135048 | MMACHC,PRDX1 | c.593A>T (p.Gln198Leu) c.*2121T>A (n.*2121T>A) c.287A>T (p.Gln96Leu) | |
1 | g.45511336T>C | CA340135049 | MMACHC,PRDX1 | c.593A>G (p.Gln198Arg) c.*2121T>C (n.*2121T>C) c.287A>G (p.Gln96Arg) | |
1 | g.45511336T>G | CA340135050 | MMACHC,PRDX1 | c.593A>C (p.Gln198Pro) c.*2121T>G (n.*2121T>G) c.287A>C (p.Gln96Pro) | |
1 | g.45511337G>A | CA21831135 | MMACHC,PRDX1 | c.592C>T (p.Gln198Ter) c.*2122G>A (n.*2122G>A) c.286C>T (p.Gln96Ter) | dbSNP gnomAD v4 |
1 | g.45511337G>C | CA340135051 | MMACHC,PRDX1 | c.592C>G (p.Gln198Glu) c.*2122G>C (n.*2122G>C) c.286C>G (p.Gln96Glu) | |
1 | g.45511337G= | CA1143438534 | MMACHC,PRDX1 | c.592C= (p.Gln198=) c.*2122G= (n.*2122G=) c.286C= (p.Gln96=) | |
1 | g.45511337G>T | CA21831138 | MMACHC,PRDX1 | c.592C>A (p.Gln198Lys) c.*2122G>T (n.*2122G>T) c.286C>A (p.Gln96Lys) | dbSNP gnomAD v4 |
1 | g.45511338C>A | CA340135053 | MMACHC,PRDX1 | c.591G>T (p.Lys197Asn) c.*2123C>A (n.*2123C>A) c.285G>T (p.Lys95Asn) | |
1 | g.45511338C>G | CA340135052 | MMACHC,PRDX1 | c.591G>C (p.Lys197Asn) c.*2123C>G (n.*2123C>G) c.285G>C (p.Lys95Asn) | |
1 | g.45511338C>T | CA417706136 | MMACHC,PRDX1 | c.591G>A (p.Lys197=) c.*2123C>T (n.*2123C>T) c.285G>A (p.Lys95=) | |
1 | g.45511339T>A | CA340135054 | MMACHC,PRDX1 | c.590A>T (p.Lys197Met) c.*2124T>A (n.*2124T>A) c.284A>T (p.Lys95Met) | |
1 | g.45511339T>C | CA340135055 | MMACHC,PRDX1 | c.590A>G (p.Lys197Arg) c.*2124T>C (n.*2124T>C) c.284A>G (p.Lys95Arg) | |
1 | g.45511339T>G | CA340135056 | MMACHC,PRDX1 | c.590A>C (p.Lys197Thr) c.*2124T>G (n.*2124T>G) c.284A>C (p.Lys95Thr) | |
1 | g.45511340T>A | CA340135057 | MMACHC,PRDX1 | c.589A>T (p.Lys197Ter) c.*2125T>A (n.*2125T>A) c.283A>T (p.Lys95Ter) | |
1 | g.45511340T>C | CA340135058 | MMACHC,PRDX1 | c.589A>G (p.Lys197Glu) c.*2125T>C (n.*2125T>C) c.283A>G (p.Lys95Glu) | |
1 | g.45511340T>G | CA340135059 | MMACHC,PRDX1 | c.589A>C (p.Lys197Gln) c.*2125T>G (n.*2125T>G) c.283A>C (p.Lys95Gln) | |
1 | g.45511341G>A | CA827910 | MMACHC,PRDX1 | c.588C>T (p.Ser196=) c.*2126G>A (n.*2126G>A) c.282C>T (p.Ser94=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45511341G>C | CA417706140 | MMACHC,PRDX1 | c.588C>G (p.Ser196=) c.*2126G>C (n.*2126G>C) c.282C>G (p.Ser94=) | |
1 | g.45511341G= | CA2473784995 | MMACHC,PRDX1 | c.588C= (p.Ser196=) c.*2126G= (n.*2126G=) c.282C= (p.Ser94=) | |
1 | g.45511341G>T | CA417706141 | MMACHC,PRDX1 | c.588C>A (p.Ser196=) c.*2126G>T (n.*2126G>T) c.282C>A (p.Ser94=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45511342G>A | CA340135060 | MMACHC,PRDX1 | c.587C>T (p.Ser196Phe) c.*2127G>A (n.*2127G>A) c.281C>T (p.Ser94Phe) | |
1 | g.45511342G>C | CA340135061 | MMACHC,PRDX1 | c.587C>G (p.Ser196Cys) c.*2127G>C (n.*2127G>C) c.281C>G (p.Ser94Cys) | |
1 | g.45511342G>T | CA340135062 | MMACHC,PRDX1 | c.587C>A (p.Ser196Tyr) c.*2127G>T (n.*2127G>T) c.281C>A (p.Ser94Tyr) | |
1 | g.45511343A>C | CA340135065 | MMACHC,PRDX1 | c.586T>G (p.Ser196Ala) c.*2128A>C (n.*2128A>C) c.280T>G (p.Ser94Ala) | |
1 | g.45511343A>G | CA340135064 | MMACHC,PRDX1 | c.586T>C (p.Ser196Pro) c.*2128A>G (n.*2128A>G) c.280T>C (p.Ser94Pro) | |
1 | g.45511343A>T | CA340135063 | MMACHC,PRDX1 | c.586T>A (p.Ser196Thr) c.*2128A>T (n.*2128A>T) c.280T>A (p.Ser94Thr) | |
1 | g.45511344G>A | CA417706144 | MMACHC,PRDX1 | c.585C>T (p.Phe195=) c.*2129G>A (n.*2129G>A) c.279C>T (p.Phe93=) | |
1 | g.45511344G>C | CA340135066 | MMACHC,PRDX1 | c.585C>G (p.Phe195Leu) c.*2129G>C (n.*2129G>C) c.279C>G (p.Phe93Leu) | COSMIC |
1 | g.45511344G>T | CA340135067 | MMACHC,PRDX1 | c.585C>A (p.Phe195Leu) c.*2129G>T (n.*2129G>T) c.279C>A (p.Phe93Leu) | |
1 | g.45511345A>C | CA340135068 | MMACHC,PRDX1 | c.584T>G (p.Phe195Cys) c.*2130A>C (n.*2130A>C) c.278T>G (p.Phe93Cys) | |
1 | g.45511345A>G | CA340135069 | MMACHC,PRDX1 | c.584T>C (p.Phe195Ser) c.*2130A>G (n.*2130A>G) c.278T>C (p.Phe93Ser) | gnomAD v4 |
1 | g.45511345A>T | CA340135070 | MMACHC,PRDX1 | c.584T>A (p.Phe195Tyr) c.*2130A>T (n.*2130A>T) c.278T>A (p.Phe93Tyr) | |
1 | g.45511346A>C | CA340135071 | MMACHC,PRDX1 | c.583T>G (p.Phe195Val) c.*2131A>C (n.*2131A>C) c.277T>G (p.Phe93Val) | |
1 | g.45511346A>G | CA340135072 | MMACHC,PRDX1 | c.583T>C (p.Phe195Leu) c.*2131A>G (n.*2131A>G) c.277T>C (p.Phe93Leu) | |
1 | g.45511346A>T | CA340135073 | MMACHC,PRDX1 | c.583T>A (p.Phe195Ile) c.*2131A>T (n.*2131A>T) c.277T>A (p.Phe93Ile) | |
1 | g.45511347A>C | CA340135074 | MMACHC,PRDX1 | c.582T>G (p.Tyr194Ter) c.*2132A>C (n.*2132A>C) c.276T>G (p.Tyr92Ter) | |
1 | g.45511347A>G | CA417706146 | MMACHC,PRDX1 | c.582T>C (p.Tyr194=) c.*2132A>G (n.*2132A>G) c.276T>C (p.Tyr92=) | |
1 | g.45511347A>T | CA340135075 | MMACHC,PRDX1 | c.582T>A (p.Tyr194Ter) c.*2132A>T (n.*2132A>T) c.276T>A (p.Tyr92Ter) | |
1 | g.45511348T>A | CA340135076 | MMACHC,PRDX1 | c.581A>T (p.Tyr194Phe) c.*2133T>A (n.*2133T>A) c.275A>T (p.Tyr92Phe) | |
1 | g.45511348T>C | CA340135077 | MMACHC,PRDX1 | c.581A>G (p.Tyr194Cys) c.*2133T>C (n.*2133T>C) c.275A>G (p.Tyr92Cys) | |
1 | g.45511348T>G | CA340135078 | MMACHC,PRDX1 | c.581A>C (p.Tyr194Ser) c.*2133T>G (n.*2133T>G) c.275A>C (p.Tyr92Ser) | |
1 | g.45511349A= | CA2473784996 | MMACHC,PRDX1 | c.580T= (p.Tyr194=) c.*2134A= (n.*2134A=) c.274T= (p.Tyr92=) | |
1 | g.45511349A>C | CA340135080 | MMACHC,PRDX1 | c.580T>G (p.Tyr194Asp) c.*2134A>C (n.*2134A>C) c.274T>G (p.Tyr92Asp) | |
1 | g.45511349A>G | CA340135081 | MMACHC,PRDX1 | c.580T>C (p.Tyr194His) c.*2134A>G (n.*2134A>G) c.274T>C (p.Tyr92His) | dbSNP |
1 | g.45511349A>T | CA340135079 | MMACHC,PRDX1 | c.580T>A (p.Tyr194Asn) c.*2134A>T (n.*2134A>T) c.274T>A (p.Tyr92Asn) | |
1 | g.45511350T>A | CA340135082 | MMACHC,PRDX1 | c.579A>T (p.Glu193Asp) c.*2135T>A (n.*2135T>A) c.273A>T (p.Glu91Asp) | |
1 | g.45511350T>C | CA417706150 | MMACHC,PRDX1 | c.579A>G (p.Glu193=) c.*2135T>C (n.*2135T>C) c.273A>G (p.Glu91=) | |
1 | g.45511350T>G | CA21831143 | MMACHC,PRDX1 | c.579A>C (p.Glu193Asp) c.*2135T>G (n.*2135T>G) c.273A>C (p.Glu91Asp) | dbSNP |
1 | g.45511350T= | CA2473784997 | MMACHC,PRDX1 | c.579A= (p.Glu193=) c.*2135T= (n.*2135T=) c.273A= (p.Glu91=) | |
1 | g.45511351T>A | CA340135083 | MMACHC,PRDX1 | c.578A>T (p.Glu193Val) c.*2136T>A (n.*2136T>A) c.272A>T (p.Glu91Val) | |
1 | g.45511351T>C | CA340135084 | MMACHC,PRDX1 | c.578A>G (p.Glu193Gly) c.*2136T>C (n.*2136T>C) c.272A>G (p.Glu91Gly) | gnomAD v4 |
1 | g.45511351T>G | CA340135085 | MMACHC,PRDX1 | c.578A>C (p.Glu193Ala) c.*2136T>G (n.*2136T>G) c.272A>C (p.Glu91Ala) | |
1 | g.45511352C>A | CA340135086 | MMACHC,PRDX1 | c.577G>T (p.Glu193Ter) c.*2137C>A (n.*2137C>A) c.271G>T (p.Glu91Ter) | COSMIC |
1 | g.45511352C>G | CA340135087 | MMACHC,PRDX1 | c.577G>C (p.Glu193Gln) c.*2137C>G (n.*2137C>G) c.271G>C (p.Glu91Gln) | |
1 | g.45511352C>T | CA340135088 | MMACHC,PRDX1 | c.577G>A (p.Glu193Lys) c.*2137C>T (n.*2137C>T) c.271G>A (p.Glu91Lys) | |
1 | g.45511353T>A | CA340135089 | MMACHC,PRDX1 | c.576A>T (p.Lys192Asn) c.*2138T>A (n.*2138T>A) c.270A>T (p.Lys90Asn) | |
1 | g.45511353T>C | CA417706151 | MMACHC,PRDX1 | c.576A>G (p.Lys192=) c.*2138T>C (n.*2138T>C) c.270A>G (p.Lys90=) | |
1 | g.45511353T>G | CA340135090 | MMACHC,PRDX1 | c.576A>C (p.Lys192Asn) c.*2138T>G (n.*2138T>G) c.270A>C (p.Lys90Asn) | |
1 | g.45511355dup | CA2843004770 | MMACHC,PRDX1 | c.576dup (p.Glu193ArgfsTer14) c.*2140dup (n.*2140dup) c.270dup (p.Glu91ArgfsTer14) | |
1 | g.45511354T>A | CA340135091 | MMACHC,PRDX1 | c.575A>T (p.Lys192Ile) c.*2139T>A (n.*2139T>A) c.269A>T (p.Lys90Ile) | |
1 | g.45511354T>C | CA340135092 | MMACHC,PRDX1 | c.575A>G (p.Lys192Arg) c.*2139T>C (n.*2139T>C) c.269A>G (p.Lys90Arg) | gnomAD v4 |
1 | g.45511354T>G | CA340135093 | MMACHC,PRDX1 | c.575A>C (p.Lys192Thr) c.*2139T>G (n.*2139T>G) c.269A>C (p.Lys90Thr) | |
1 | g.45511355T>A | CA340135096 | MMACHC,PRDX1 | c.574A>T (p.Lys192Ter) c.*2140T>A (n.*2140T>A) c.268A>T (p.Lys90Ter) | |
1 | g.45511355T>C | CA340135095 | MMACHC,PRDX1 | c.574A>G (p.Lys192Glu) c.*2140T>C (n.*2140T>C) c.268A>G (p.Lys90Glu) | dbSNP |
1 | g.45511355T>G | CA340135094 | MMACHC,PRDX1 | c.574A>C (p.Lys192Gln) c.*2140T>G (n.*2140T>G) c.268A>C (p.Lys90Gln) | |
1 | g.45511355T= | CA2473784998 | MMACHC,PRDX1 | c.574A= (p.Lys192=) c.*2140T= (n.*2140T=) c.268A= (p.Lys90=) | |
1 | g.45511356del | CA2645392999 | MMACHC,PRDX1 | c.573del (p.Ser191ArgfsTer24) c.*2141del (n.*2141del) c.267del (p.Ser89ArgfsTer24) | gnomAD v4 |
1 | g.45511356G>A | CA417706153 | MMACHC,PRDX1 | c.573C>T (p.Ser191=) c.*2141G>A (n.*2141G>A) c.267C>T (p.Ser89=) | |
1 | g.45511356G>C | CA340135097 | MMACHC,PRDX1 | c.573C>G (p.Ser191Arg) c.*2141G>C (n.*2141G>C) c.267C>G (p.Ser89Arg) | |
1 | g.45511356G>T | CA340135098 | MMACHC,PRDX1 | c.573C>A (p.Ser191Arg) c.*2141G>T (n.*2141G>T) c.267C>A (p.Ser89Arg) | |
1 | g.45511357C>A | CA340135099 | MMACHC,PRDX1 | c.572G>T (p.Ser191Ile) c.*2142C>A (n.*2142C>A) c.266G>T (p.Ser89Ile) | |
1 | g.45511357C>G | CA340135100 | MMACHC,PRDX1 | c.572G>C (p.Ser191Thr) c.*2142C>G (n.*2142C>G) c.266G>C (p.Ser89Thr) | |
1 | g.45511357C>T | CA340135101 | MMACHC,PRDX1 | c.572G>A (p.Ser191Asn) c.*2142C>T (n.*2142C>T) c.266G>A (p.Ser89Asn) | gnomAD v4 |
1 | g.45511358T>A | CA340135102 | MMACHC,PRDX1 | c.571A>T (p.Ser191Cys) c.*2143T>A (n.*2143T>A) c.265A>T (p.Ser89Cys) | |
1 | g.45511358T>C | CA21831145 | MMACHC,PRDX1 | c.571A>G (p.Ser191Gly) c.*2143T>C (n.*2143T>C) c.265A>G (p.Ser89Gly) | dbSNP |
1 | g.45511358T>G | CA340135103 | MMACHC,PRDX1 | c.571A>C (p.Ser191Arg) c.*2143T>G (n.*2143T>G) c.265A>C (p.Ser89Arg) | |
1 | g.45511358T= | CA1140265114 | MMACHC,PRDX1 | c.571A= (p.Ser191=) c.*2143T= (n.*2143T=) c.265A= (p.Ser89=) | |
1 | g.45511359C>A | CA340135104 | MMACHC,PRDX1 | c.570G>T (p.Lys190Asn) c.*2144C>A (n.*2144C>A) c.264G>T (p.Lys88Asn) | |
1 | g.45511359C= | CA2473784999 | MMACHC,PRDX1 | c.570G= (p.Lys190=) c.*2144C= (n.*2144C=) c.264G= (p.Lys88=) | |
1 | g.45511359C>G | CA340135105 | MMACHC,PRDX1 | c.570G>C (p.Lys190Asn) c.*2144C>G (n.*2144C>G) c.264G>C (p.Lys88Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45511359C>T | CA417706155 | MMACHC,PRDX1 | c.570G>A (p.Lys190=) c.*2144C>T (n.*2144C>T) c.264G>A (p.Lys88=) | dbSNP gnomAD v4 |
1 | g.45511360T>A | CA340135106 | MMACHC,PRDX1 | c.569A>T (p.Lys190Met) c.*2145T>A (n.*2145T>A) c.263A>T (p.Lys88Met) | |
1 | g.45511360T>C | CA340135107 | MMACHC,PRDX1 | c.569A>G (p.Lys190Arg) c.*2145T>C (n.*2145T>C) c.263A>G (p.Lys88Arg) | |
1 | g.45511360T>G | CA340135108 | MMACHC,PRDX1 | c.569A>C (p.Lys190Thr) c.*2145T>G (n.*2145T>G) c.263A>C (p.Lys88Thr) | |
1 | g.45511361T>A | CA340135110 | MMACHC,PRDX1 | c.568A>T (p.Lys190Ter) c.*2146T>A (n.*2146T>A) c.262A>T (p.Lys88Ter) | |
1 | g.45511361T>C | CA827911 | MMACHC,PRDX1 | c.568A>G (p.Lys190Glu) c.*2146T>C (n.*2146T>C) c.262A>G (p.Lys88Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45511361T>G | CA340135109 | MMACHC,PRDX1 | c.568A>C (p.Lys190Gln) c.*2146T>G (n.*2146T>G) c.262A>C (p.Lys88Gln) | |
1 | g.45511361T= | CA2473785000 | MMACHC,PRDX1 | c.568A= (p.Lys190=) c.*2146T= (n.*2146T=) c.262A= (p.Lys88=) | |
1 | g.45511362T>A | CA340135111 | MMACHC,PRDX1 | c.567A>T (p.Gln189His) c.*2147T>A (n.*2147T>A) c.261A>T (p.Gln87His) | |
1 | g.45511362T>C | CA417706156 | MMACHC,PRDX1 | c.567A>G (p.Gln189=) c.*2147T>C (n.*2147T>C) c.261A>G (p.Gln87=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45511362T>G | CA340135112 | MMACHC,PRDX1 | c.567A>C (p.Gln189His) c.*2147T>G (n.*2147T>G) c.261A>C (p.Gln87His) | |
1 | g.45511362T= | CA2473785001 | MMACHC,PRDX1 | c.567A= (p.Gln189=) c.*2147T= (n.*2147T=) c.261A= (p.Gln87=) | |
1 | g.45511363T>A | CA340135113 | MMACHC,PRDX1 | c.566A>T (p.Gln189Leu) c.*2148T>A (n.*2148T>A) c.260A>T (p.Gln87Leu) | dbSNP gnomAD v4 |
1 | g.45511363T>C | CA340135114 | MMACHC,PRDX1 | c.566A>G (p.Gln189Arg) c.*2148T>C (n.*2148T>C) c.260A>G (p.Gln87Arg) | |
1 | g.45511363T>G | CA340135115 | MMACHC,PRDX1 | c.566A>C (p.Gln189Pro) c.*2148T>G (n.*2148T>G) c.260A>C (p.Gln87Pro) | |
1 | g.45511363T= | CA2473785002 | MMACHC,PRDX1 | c.566A= (p.Gln189=) c.*2148T= (n.*2148T=) c.260A= (p.Gln87=) | |
1 | g.45511364G>A | CA340135116 | MMACHC,PRDX1 | c.565C>T (p.Gln189Ter) c.*2149G>A (n.*2149G>A) c.259C>T (p.Gln87Ter) | gnomAD v4 |
1 | g.45511364G>C | CA827912 | MMACHC,PRDX1 | c.565C>G (p.Gln189Glu) c.*2149G>C (n.*2149G>C) c.259C>G (p.Gln87Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511364G= | CA2473785003 | MMACHC,PRDX1 | c.565C= (p.Gln189=) c.*2149G= (n.*2149G=) c.259C= (p.Gln87=) | |
1 | g.45511364G>T | CA340135117 | MMACHC,PRDX1 | c.565C>A (p.Gln189Lys) c.*2149G>T (n.*2149G>T) c.259C>A (p.Gln87Lys) | |
1 | g.45511365del | CA645523902 | MMACHC,PRDX1 | c.565del (p.Gln189LysfsTer26) c.*2150del (n.*2150del) c.259del (p.Gln87LysfsTer26) | COSMIC |
1 | g.45511365G>A | CA417706157 | MMACHC,PRDX1 | c.564C>T (p.Val188=) c.*2150G>A (n.*2150G>A) c.258C>T (p.Val86=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.45511365G>C | CA417706158 | MMACHC,PRDX1 | c.564C>G (p.Val188=) c.*2150G>C (n.*2150G>C) c.258C>G (p.Val86=) | |
1 | g.45511365G= | CA2473785004 | MMACHC,PRDX1 | c.564C= (p.Val188=) c.*2150G= (n.*2150G=) c.258C= (p.Val86=) | |
1 | g.45511365G>T | CA417706159 | MMACHC,PRDX1 | c.564C>A (p.Val188=) c.*2150G>T (n.*2150G>T) c.258C>A (p.Val86=) | |
1 | g.45511366A>C | CA340135118 | MMACHC,PRDX1 | c.563T>G (p.Val188Gly) c.*2151A>C (n.*2151A>C) c.257T>G (p.Val86Gly) | |
1 | g.45511366A>G | CA340135119 | MMACHC,PRDX1 | c.563T>C (p.Val188Ala) c.*2151A>G (n.*2151A>G) c.257T>C (p.Val86Ala) | |
1 | g.45511366A>T | CA340135120 | MMACHC,PRDX1 | c.563T>A (p.Val188Asp) c.*2151A>T (n.*2151A>T) c.257T>A (p.Val86Asp) | |
1 | g.45511367C>A | CA340135121 | MMACHC,PRDX1 | c.562G>T (p.Val188Phe) c.*2152C>A (n.*2152C>A) c.256G>T (p.Val86Phe) | |
1 | g.45511367C>G | CA340135122 | MMACHC,PRDX1 | c.562G>C (p.Val188Leu) c.*2152C>G (n.*2152C>G) c.256G>C (p.Val86Leu) | |
1 | g.45511367C>T | CA340135123 | MMACHC,PRDX1 | c.562G>A (p.Val188Ile) c.*2152C>T (n.*2152C>T) c.256G>A (p.Val86Ile) | gnomAD v4 |
1 | g.45511368A>C | CA340135124 | MMACHC,PRDX1 | c.561T>G (p.Asp187Glu) c.*2153A>C (n.*2153A>C) c.255T>G (p.Asp85Glu) | gnomAD v4 |
1 | g.45511368A>G | CA417706160 | MMACHC,PRDX1 | c.561T>C (p.Asp187=) c.*2153A>G (n.*2153A>G) c.255T>C (p.Asp85=) | gnomAD v4 |
1 | g.45511368A>T | CA340135125 | MMACHC,PRDX1 | c.561T>A (p.Asp187Glu) c.*2153A>T (n.*2153A>T) c.255T>A (p.Asp85Glu) | |
1 | g.45511369T>A | CA340135128 | MMACHC,PRDX1 | c.560A>T (p.Asp187Val) c.*2154T>A (n.*2154T>A) c.254A>T (p.Asp85Val) | |
1 | g.45511369T>C | CA340135127 | MMACHC,PRDX1 | c.560A>G (p.Asp187Gly) c.*2154T>C (n.*2154T>C) c.254A>G (p.Asp85Gly) | |
1 | g.45511369T>G | CA340135126 | MMACHC,PRDX1 | c.560A>C (p.Asp187Ala) c.*2154T>G (n.*2154T>G) c.254A>C (p.Asp85Ala) | |
1 | g.45511370C>A | CA340135129 | MMACHC,PRDX1 | c.559G>T (p.Asp187Tyr) c.*2155C>A (n.*2155C>A) c.253G>T (p.Asp85Tyr) | gnomAD v4 |
1 | g.45511370C>G | CA340135130 | MMACHC,PRDX1 | c.559G>C (p.Asp187His) c.*2155C>G (n.*2155C>G) c.253G>C (p.Asp85His) | |
1 | g.45511370C>T | CA340135131 | MMACHC,PRDX1 | c.559G>A (p.Asp187Asn) c.*2155C>T (n.*2155C>T) c.253G>A (p.Asp85Asn) | |
1 | g.45511371A>C | CA417706161 | MMACHC,PRDX1 | c.558T>G (p.Pro186=) c.*2156A>C (n.*2156A>C) c.252T>G (p.Pro84=) | |
1 | g.45511371A>G | CA417706162 | MMACHC,PRDX1 | c.558T>C (p.Pro186=) c.*2156A>G (n.*2156A>G) c.252T>C (p.Pro84=) | ClinVar dbSNP gnomAD v4 |
1 | g.45511371A>T | CA417706163 | MMACHC,PRDX1 | c.558T>A (p.Pro186=) c.*2156A>T (n.*2156A>T) c.252T>A (p.Pro84=) | |
1 | g.45511372G>A | CA340135132 | MMACHC,PRDX1 | c.557C>T (p.Pro186Leu) c.*2157G>A (n.*2157G>A) c.251C>T (p.Pro84Leu) | dbSNP COSMIC |
1 | g.45511372G>C | CA340135133 | MMACHC,PRDX1 | c.557C>G (p.Pro186Arg) c.*2157G>C (n.*2157G>C) c.251C>G (p.Pro84Arg) | |
1 | g.45511372G= | CA2473785005 | MMACHC,PRDX1 | c.557C= (p.Pro186=) c.*2157G= (n.*2157G=) c.251C= (p.Pro84=) | |
1 | g.45511372G>T | CA340135134 | MMACHC,PRDX1 | c.557C>A (p.Pro186His) c.*2157G>T (n.*2157G>T) c.251C>A (p.Pro84His) | |
1 | g.45511373G>A | CA340135135 | MMACHC,PRDX1 | c.556C>T (p.Pro186Ser) c.*2158G>A (n.*2158G>A) c.250C>T (p.Pro84Ser) | |
1 | g.45511373G>C | CA340135136 | MMACHC,PRDX1 | c.556C>G (p.Pro186Ala) c.*2158G>C (n.*2158G>C) c.250C>G (p.Pro84Ala) | |
1 | g.45511373G= | CA2473785006 | MMACHC,PRDX1 | c.556C= (p.Pro186=) c.*2158G= (n.*2158G=) c.250C= (p.Pro84=) | |
1 | g.45511373G>T | CA827913 | MMACHC,PRDX1 | c.556C>A (p.Pro186Thr) c.*2158G>T (n.*2158G>T) c.250C>A (p.Pro84Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45511374C>A | CA340135137 | MMACHC,PRDX1 | c.555G>T (p.Lys185Asn) c.*2159C>A (n.*2159C>A) c.249G>T (p.Lys83Asn) | |
1 | g.45511374C>G | CA340135138 | MMACHC,PRDX1 | c.555G>C (p.Lys185Asn) c.*2159C>G (n.*2159C>G) c.249G>C (p.Lys83Asn) | |
1 | g.45511374C>T | CA417706164 | MMACHC,PRDX1 | c.555G>A (p.Lys185=) c.*2159C>T (n.*2159C>T) c.249G>A (p.Lys83=) | |
1 | g.45511375T>A | CA340135139 | MMACHC,PRDX1 | c.554A>T (p.Lys185Met) c.*2160T>A (n.*2160T>A) c.248A>T (p.Lys83Met) | |
1 | g.45511375T>C | CA340135140 | MMACHC,PRDX1 | c.554A>G (p.Lys185Arg) c.*2160T>C (n.*2160T>C) c.248A>G (p.Lys83Arg) | |
1 | g.45511375T>G | CA827914 | MMACHC,PRDX1 | c.554A>C (p.Lys185Thr) c.*2160T>G (n.*2160T>G) c.248A>C (p.Lys83Thr) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.45511375T= | CA2473785007 | MMACHC,PRDX1 | c.554A= (p.Lys185=) c.*2160T= (n.*2160T=) c.248A= (p.Lys83=) | |
1 | g.45511376del | CA2574352309 | MMACHC,PRDX1 | c.554del (p.Lys185SerfsTer30) c.*2161del (n.*2161del) c.248del (p.Lys83SerfsTer30) | gnomAD v4 |
1 | g.45511376T>A | CA340135142 | MMACHC,PRDX1 | c.553A>T (p.Lys185Ter) c.*2161T>A (n.*2161T>A) c.247A>T (p.Lys83Ter) | |
1 | g.45511376T>C | CA340135143 | MMACHC,PRDX1 | c.553A>G (p.Lys185Glu) c.*2161T>C (n.*2161T>C) c.247A>G (p.Lys83Glu) | |
1 | g.45511376T>G | CA340135141 | MMACHC,PRDX1 | c.553A>C (p.Lys185Gln) c.*2161T>G (n.*2161T>G) c.247A>C (p.Lys83Gln) | gnomAD v4 |
1 | g.45511377G>A | CA417706165 | MMACHC,PRDX1 | c.552C>T (p.Ile184=) c.*2162G>A (n.*2162G>A) c.246C>T (p.Ile82=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511377G>C | CA827915 | MMACHC,PRDX1 | c.552C>G (p.Ile184Met) c.*2162G>C (n.*2162G>C) c.246C>G (p.Ile82Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.45511377G= | CA2473785008 | MMACHC,PRDX1 | c.552C= (p.Ile184=) c.*2162G= (n.*2162G=) c.246C= (p.Ile82=) | |
1 | g.45511377G>T | CA417706166 | MMACHC,PRDX1 | c.552C>A (p.Ile184=) c.*2162G>T (n.*2162G>T) c.246C>A (p.Ile82=) | |
1 | g.45511378del | CA2697552413 | MMACHC,PRDX1 | c.551del (p.Ile184ThrfsTer?) c.*2163del (n.*2163del) c.245del (p.Ile82ThrfsTer?) | ClinVar |
1 | g.45511378A>C | CA340135144 | MMACHC,PRDX1 | c.551T>G (p.Ile184Ser) c.*2163A>C (n.*2163A>C) c.245T>G (p.Ile82Ser) | gnomAD v4 |
1 | g.45511378A>G | CA340135145 | MMACHC,PRDX1 | c.551T>C (p.Ile184Thr) c.*2163A>G (n.*2163A>G) c.245T>C (p.Ile82Thr) | |
1 | g.45511378A>T | CA340135146 | MMACHC,PRDX1 | c.551T>A (p.Ile184Asn) c.*2163A>T (n.*2163A>T) c.245T>A (p.Ile82Asn) | gnomAD v4 |
1 | g.45511379T>A | CA340135147 | MMACHC,PRDX1 | c.550A>T (p.Ile184Phe) c.*2164T>A (n.*2164T>A) c.244A>T (p.Ile82Phe) | |
1 | g.45511379T>C | CA340135148 | MMACHC,PRDX1 | c.550A>G (p.Ile184Val) c.*2164T>C (n.*2164T>C) c.244A>G (p.Ile82Val) | |
1 | g.45511379T>G | CA340135149 | MMACHC,PRDX1 | c.550A>C (p.Ile184Leu) c.*2164T>G (n.*2164T>G) c.244A>C (p.Ile82Leu) | |
1 | g.45511380G>A | CA827916 | MMACHC,PRDX1 | c.549C>T (p.Thr183=) c.*2165G>A (n.*2165G>A) c.243C>T (p.Thr81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45511380G>C | CA417706167 | MMACHC,PRDX1 | c.549C>G (p.Thr183=) c.*2165G>C (n.*2165G>C) c.243C>G (p.Thr81=) | |
1 | g.45511380G= | CA2473785009 | MMACHC,PRDX1 | c.549C= (p.Thr183=) c.*2165G= (n.*2165G=) c.243C= (p.Thr81=) | |
1 | g.45511380G>T | CA417706168 | MMACHC,PRDX1 | c.549C>A (p.Thr183=) c.*2165G>T (n.*2165G>T) c.243C>A (p.Thr81=) | |
1 | g.45511381G>A | CA340135150 | MMACHC,PRDX1 | c.548C>T (p.Thr183Ile) c.*2166G>A (n.*2166G>A) c.242C>T (p.Thr81Ile) | |
1 | g.45511381G>C | CA340135151 | MMACHC,PRDX1 | c.548C>G (p.Thr183Ser) c.*2166G>C (n.*2166G>C) c.242C>G (p.Thr81Ser) | |
1 | g.45511381G>T | CA340135152 | MMACHC,PRDX1 | c.548C>A (p.Thr183Asn) c.*2166G>T (n.*2166G>T) c.242C>A (p.Thr81Asn) | |
1 | g.45511382T>A | CA340135153 | MMACHC,PRDX1 | c.547A>T (p.Thr183Ser) c.*2167T>A (n.*2167T>A) c.241A>T (p.Thr81Ser) | |
1 | g.45511382T>C | CA827917 | MMACHC,PRDX1 | c.547A>G (p.Thr183Ala) c.*2167T>C (n.*2167T>C) c.241A>G (p.Thr81Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45511382T>G | CA340135154 | MMACHC,PRDX1 | c.547A>C (p.Thr183Pro) c.*2167T>G (n.*2167T>G) c.241A>C (p.Thr81Pro) | |
1 | g.45511382T= | CA2473785010 | MMACHC,PRDX1 | c.547A= (p.Thr183=) c.*2167T= (n.*2167T=) c.241A= (p.Thr81=) | |
1 | g.45511383A= | CA2473785011 | MMACHC,PRDX1 | c.546T= (p.Asp182=) c.*2168A= (n.*2168A=) c.240T= (p.Asp80=) | |
1 | g.45511383A>C | CA340135155 | MMACHC,PRDX1 | c.546T>G (p.Asp182Glu) c.*2168A>C (n.*2168A>C) c.240T>G (p.Asp80Glu) | |
1 | g.45511383A>G | CA827918 | MMACHC,PRDX1 | c.546T>C (p.Asp182=) c.*2168A>G (n.*2168A>G) c.240T>C (p.Asp80=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45511383A>T | CA340135156 | MMACHC,PRDX1 | c.546T>A (p.Asp182Glu) c.*2168A>T (n.*2168A>T) c.240T>A (p.Asp80Glu) | |
1 | g.45511384T>A | CA340135157 | MMACHC,PRDX1 | c.545A>T (p.Asp182Val) c.*2169T>A (n.*2169T>A) c.239A>T (p.Asp80Val) | |
1 | g.45511384T>C | CA340135158 | MMACHC,PRDX1 | c.545A>G (p.Asp182Gly) c.*2169T>C (n.*2169T>C) c.239A>G (p.Asp80Gly) | |
1 | g.45511384T>G | CA340135159 | MMACHC,PRDX1 | c.545A>C (p.Asp182Ala) c.*2169T>G (n.*2169T>G) c.239A>C (p.Asp80Ala) | |
1 | g.45511385C>A | CA340135160 | MMACHC,PRDX1 | c.544G>T (p.Asp182Tyr) c.*2170C>A (n.*2170C>A) c.238G>T (p.Asp80Tyr) | |
1 | g.45511385C>G | CA340135161 | MMACHC,PRDX1 | c.544G>C (p.Asp182His) c.*2170C>G (n.*2170C>G) c.238G>C (p.Asp80His) | |
1 | g.45511385C>T | CA340135162 | MMACHC,PRDX1 | c.544G>A (p.Asp182Asn) c.*2170C>T (n.*2170C>T) c.238G>A (p.Asp80Asn) | gnomAD v4 COSMIC |
1 | g.45511386A>C | CA340135163 | MMACHC,PRDX1 | c.543T>G (p.Ser181Arg) c.*2171A>C (n.*2171A>C) c.237T>G (p.Ser79Arg) | |
1 | g.45511386A>G | CA417706169 | MMACHC,PRDX1 | c.543T>C (p.Ser181=) c.*2171A>G (n.*2171A>G) c.237T>C (p.Ser79=) | gnomAD v4 |
1 | g.45511386A>T | CA340135164 | MMACHC,PRDX1 | c.543T>A (p.Ser181Arg) c.*2171A>T (n.*2171A>T) c.237T>A (p.Ser79Arg) | |
1 | g.45511386dup | CA2838843990 | MMACHC,PRDX1 | c.543dup (p.Asp182Ter) c.*2171dup (n.*2171dup) c.237dup (p.Asp80Ter) | |
1 | g.45511387C>A | CA340135165 | MMACHC,PRDX1 | c.542G>T (p.Ser181Ile) c.*2172C>A (n.*2172C>A) c.236G>T (p.Ser79Ile) | |
1 | g.45511387C>G | CA340135166 | MMACHC,PRDX1 | c.542G>C (p.Ser181Thr) c.*2172C>G (n.*2172C>G) c.236G>C (p.Ser79Thr) | |
1 | g.45511387C>T | CA340135167 | MMACHC,PRDX1 | c.542G>A (p.Ser181Asn) c.*2172C>T (n.*2172C>T) c.236G>A (p.Ser79Asn) | |
1 | g.45511388T>A | CA340135170 | MMACHC,PRDX1 | c.541A>T (p.Ser181Cys) c.*2173T>A (n.*2173T>A) c.235A>T (p.Ser79Cys) | |
1 | g.45511388T>C | CA340135168 | MMACHC,PRDX1 | c.541A>G (p.Ser181Gly) c.*2173T>C (n.*2173T>C) c.235A>G (p.Ser79Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45511388T>G | CA340135169 | MMACHC,PRDX1 | c.541A>C (p.Ser181Arg) c.*2173T>G (n.*2173T>G) c.235A>C (p.Ser79Arg) | |
1 | g.45511388T= | CA2473785012 | MMACHC,PRDX1 | c.541A= (p.Ser181=) c.*2173T= (n.*2173T=) c.235A= (p.Ser79=) | |
1 | g.45511389G>A | CA417706172 | MMACHC,PRDX1 | c.540C>T (p.Gly180=) c.*2174G>A (n.*2174G>A) c.234C>T (p.Gly78=) | |
1 | g.45511389G>C | CA417706170 | MMACHC,PRDX1 | c.540C>G (p.Gly180=) c.*2174G>C (n.*2174G>C) c.234C>G (p.Gly78=) | |
1 | g.45511389G>T | CA417706171 | MMACHC,PRDX1 | c.540C>A (p.Gly180=) c.*2174G>T (n.*2174G>T) c.234C>A (p.Gly78=) | |
1 | g.45511390C>A | CA340135171 | MMACHC,PRDX1 | c.539G>T (p.Gly180Val) c.*2175C>A (n.*2175C>A) c.233G>T (p.Gly78Val) | |
1 | g.45511390C>G | CA340135173 | MMACHC,PRDX1 | c.539G>C (p.Gly180Ala) c.*2175C>G (n.*2175C>G) c.233G>C (p.Gly78Ala) | |
1 | g.45511390C>T | CA340135172 | MMACHC,PRDX1 | c.539G>A (p.Gly180Asp) c.*2175C>T (n.*2175C>T) c.233G>A (p.Gly78Asp) | |
1 | g.45511391C>A | CA340135174 | MMACHC,PRDX1 | c.538G>T (p.Gly180Cys) c.*2176C>A (n.*2176C>A) c.232G>T (p.Gly78Cys) | |
1 | g.45511391C>G | CA340135175 | MMACHC,PRDX1 | c.538G>C (p.Gly180Arg) c.*2176C>G (n.*2176C>G) c.232G>C (p.Gly78Arg) | |
1 | g.45511391C>T | CA340135176 | MMACHC,PRDX1 | c.538G>A (p.Gly180Ser) c.*2176C>T (n.*2176C>T) c.232G>A (p.Gly78Ser) | gnomAD v4 |
1 | g.45511392A>C | CA417706173 | MMACHC,PRDX1 | c.537T>G (p.Pro179=) c.*2177A>C (n.*2177A>C) c.231T>G (p.Pro77=) | |
1 | g.45511392A>G | CA417706174 | MMACHC,PRDX1 | c.537T>C (p.Pro179=) c.*2177A>G (n.*2177A>G) c.231T>C (p.Pro77=) | |
1 | g.45511392A>T | CA417706175 | MMACHC,PRDX1 | c.537T>A (p.Pro179=) c.*2177A>T (n.*2177A>T) c.231T>A (p.Pro77=) | gnomAD v4 |
1 | g.45511393G>A | CA340135177 | MMACHC,PRDX1 | c.536C>T (p.Pro179Leu) c.*2178G>A (n.*2178G>A) c.230C>T (p.Pro77Leu) | |
1 | g.45511393G>C | CA340135178 | MMACHC,PRDX1 | c.536C>G (p.Pro179Arg) c.*2178G>C (n.*2178G>C) c.230C>G (p.Pro77Arg) | |
1 | g.45511393G>T | CA340135179 | MMACHC,PRDX1 | c.536C>A (p.Pro179His) c.*2178G>T (n.*2178G>T) c.230C>A (p.Pro77His) | |
1 | g.45511394G>A | CA340135180 | MMACHC,PRDX1 | c.535C>T (p.Pro179Ser) c.*2179G>A (n.*2179G>A) c.229C>T (p.Pro77Ser) | gnomAD v4 |
1 | g.45511394G>C | CA340135181 | MMACHC,PRDX1 | c.535C>G (p.Pro179Ala) c.*2179G>C (n.*2179G>C) c.229C>G (p.Pro77Ala) | |
1 | g.45511394G>T | CA340135182 | MMACHC,PRDX1 | c.535C>A (p.Pro179Thr) c.*2179G>T (n.*2179G>T) c.229C>A (p.Pro77Thr) | |
1 | g.45511395T>A | CA340135183 | MMACHC,PRDX1 | c.534A>T (p.Lys178Asn) c.*2180T>A (n.*2180T>A) c.228A>T (p.Lys76Asn) | |
1 | g.45511395T>C | CA417706176 | MMACHC,PRDX1 | c.534A>G (p.Lys178=) c.*2180T>C (n.*2180T>C) c.228A>G (p.Lys76=) | |
1 | g.45511395T>G | CA340135184 | MMACHC,PRDX1 | c.534A>C (p.Lys178Asn) c.*2180T>G (n.*2180T>G) c.228A>C (p.Lys76Asn) | |
1 | g.45511396T>A | CA340135187 | MMACHC,PRDX1 | c.533A>T (p.Lys178Ile) c.*2181T>A (n.*2181T>A) c.227A>T (p.Lys76Ile) | |
1 | g.45511396T>C | CA340135186 | MMACHC,PRDX1 | c.533A>G (p.Lys178Arg) c.*2181T>C (n.*2181T>C) c.227A>G (p.Lys76Arg) | |
1 | g.45511396T>G | CA340135185 | MMACHC,PRDX1 | c.533A>C (p.Lys178Thr) c.*2181T>G (n.*2181T>G) c.227A>C (p.Lys76Thr) | |
1 | g.45511397T>A | CA340135188 | MMACHC,PRDX1 | c.532A>T (p.Lys178Ter) c.*2182T>A (n.*2182T>A) c.226A>T (p.Lys76Ter) | |
1 | g.45511397T>C | CA340135189 | MMACHC,PRDX1 | c.532A>G (p.Lys178Glu) c.*2182T>C (n.*2182T>C) c.226A>G (p.Lys76Glu) | |
1 | g.45511397T>G | CA340135190 | MMACHC,PRDX1 | c.532A>C (p.Lys178Gln) c.*2182T>G (n.*2182T>G) c.226A>C (p.Lys76Gln) | |
1 | g.45511398C>A | CA340135191 | MMACHC,PRDX1 | c.531G>T (p.Trp177Cys) c.*2183C>A (n.*2183C>A) c.225G>T (p.Trp75Cys) | |
1 | g.45511398C>G | CA340135192 | MMACHC,PRDX1 | c.531G>C (p.Trp177Cys) c.*2183C>G (n.*2183C>G) c.225G>C (p.Trp75Cys) | |
1 | g.45511398C>T | CA340135193 | MMACHC,PRDX1 | c.531G>A (p.Trp177Ter) c.*2183C>T (n.*2183C>T) c.225G>A (p.Trp75Ter) | |
1 | g.45511399C>A | CA340135194 | MMACHC,PRDX1 | c.530G>T (p.Trp177Leu) c.*2184C>A (n.*2184C>A) c.224G>T (p.Trp75Leu) | |
1 | g.45511399C>G | CA340135195 | MMACHC,PRDX1 | c.530G>C (p.Trp177Ser) c.*2184C>G (n.*2184C>G) c.224G>C (p.Trp75Ser) | |
1 | g.45511399C>T | CA340135196 | MMACHC,PRDX1 | c.530G>A (p.Trp177Ter) c.*2184C>T (n.*2184C>T) c.224G>A (p.Trp75Ter) | |
1 | g.45511400A>C | CA340135197 | MMACHC,PRDX1 | c.529T>G (p.Trp177Gly) c.*2185A>C (n.*2185A>C) c.223T>G (p.Trp75Gly) | |
1 | g.45511400A>G | CA340135198 | MMACHC,PRDX1 | c.529T>C (p.Trp177Arg) c.*2185A>G (n.*2185A>G) c.223T>C (p.Trp75Arg) | |
1 | g.45511400A>T | CA340135199 | MMACHC,PRDX1 | c.529T>A (p.Trp177Arg) c.*2185A>T (n.*2185A>T) c.223T>A (p.Trp75Arg) | |
1 | g.45511401G>A | CA417706177 | MMACHC,PRDX1 | c.528C>T (p.Gly176=) c.*2186G>A (n.*2186G>A) c.222C>T (p.Gly74=) | |
1 | g.45511401G>C | CA417706178 | MMACHC,PRDX1 | c.528C>G (p.Gly176=) c.*2186G>C (n.*2186G>C) c.222C>G (p.Gly74=) | |
1 | g.45511401G>T | CA417706179 | MMACHC,PRDX1 | c.528C>A (p.Gly176=) c.*2186G>T (n.*2186G>T) c.222C>A (p.Gly74=) | |
1 | g.45511402C>A | CA340135202 | MMACHC,PRDX1 | c.527G>T (p.Gly176Val) c.*2187C>A (n.*2187C>A) c.221G>T (p.Gly74Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45511402C= | CA2473785013 | MMACHC,PRDX1 | c.527G= (p.Gly176=) c.*2187C= (n.*2187C=) c.221G= (p.Gly74=) | |
1 | g.45511402C>G | CA340135201 | MMACHC,PRDX1 | c.527G>C (p.Gly176Ala) c.*2187C>G (n.*2187C>G) c.221G>C (p.Gly74Ala) | |
1 | g.45511402C>T | CA340135200 | MMACHC,PRDX1 | c.527G>A (p.Gly176Asp) c.*2187C>T (n.*2187C>T) c.221G>A (p.Gly74Asp) | |
1 | g.45511403C>A | CA340135205 | MMACHC,PRDX1 | c.526G>T (p.Gly176Cys) c.*2188C>A (n.*2188C>A) c.220G>T (p.Gly74Cys) | |
1 | g.45511403C>G | CA340135203 | MMACHC,PRDX1 | c.526G>C (p.Gly176Arg) c.*2188C>G (n.*2188C>G) c.220G>C (p.Gly74Arg) | |
1 | g.45511403C>T | CA340135204 | MMACHC,PRDX1 | c.526G>A (p.Gly176Ser) c.*2188C>T (n.*2188C>T) c.220G>A (p.Gly74Ser) | |
1 | g.45511404A= | CA2473785014 | MMACHC,PRDX1 | c.525T= (p.Ala175=) c.*2189A= (n.*2189A=) c.219T= (p.Ala73=) | |
1 | g.45511404A>C | CA417706182 | MMACHC,PRDX1 | c.525T>G (p.Ala175=) c.*2189A>C (n.*2189A>C) c.219T>G (p.Ala73=) | |
1 | g.45511404A>G | CA417706180 | MMACHC,PRDX1 | c.525T>C (p.Ala175=) c.*2189A>G (n.*2189A>G) c.219T>C (p.Ala73=) | |
1 | g.45511404A>T | CA417706181 | MMACHC,PRDX1 | c.525T>A (p.Ala175=) c.*2189A>T (n.*2189A>T) c.219T>A (p.Ala73=) | dbSNP |
1 | g.45511405G>A | CA340135206 | MMACHC,PRDX1 | c.524C>T (p.Ala175Val) c.*2190G>A (n.*2190G>A) c.218C>T (p.Ala73Val) | |
1 | g.45511405G>C | CA340135207 | MMACHC,PRDX1 | c.524C>G (p.Ala175Gly) c.*2190G>C (n.*2190G>C) c.218C>G (p.Ala73Gly) | |
1 | g.45511405G>T | CA340135208 | MMACHC,PRDX1 | c.524C>A (p.Ala175Asp) c.*2190G>T (n.*2190G>T) c.218C>A (p.Ala73Asp) | |
1 | g.45511406C>A | CA340135209 | MMACHC,PRDX1 | c.523G>T (p.Ala175Ser) c.*2191C>A (n.*2191C>A) c.217G>T (p.Ala73Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45511406C= | CA2473785015 | MMACHC,PRDX1 | c.523G= (p.Ala175=) c.*2191C= (n.*2191C=) c.217G= (p.Ala73=) | |
1 | g.45511406C>G | CA340135210 | MMACHC,PRDX1 | c.523G>C (p.Ala175Pro) c.*2191C>G (n.*2191C>G) c.217G>C (p.Ala73Pro) | |
1 | g.45511406C>T | CA340135211 | MMACHC,PRDX1 | c.523G>A (p.Ala175Thr) c.*2191C>T (n.*2191C>T) c.217G>A (p.Ala73Thr) | |
1 | g.45511407T>A | CA417706183 | MMACHC,PRDX1 | c.522A>T (p.Pro174=) c.*2192T>A (n.*2192T>A) c.216A>T (p.Pro72=) | |
1 | g.45511407T>C | CA417706184 | MMACHC,PRDX1 | c.522A>G (p.Pro174=) c.*2192T>C (n.*2192T>C) c.216A>G (p.Pro72=) | |
1 | g.45511407T>G | CA417706185 | MMACHC,PRDX1 | c.522A>C (p.Pro174=) c.*2192T>G (n.*2192T>G) c.216A>C (p.Pro72=) | |
1 | g.45511407_45511408delinsTG | CA2473785016 | MMACHC,PRDX1 | c.521_522delinsCA (p.Pro174=) c.*2192_*2193delinsTG (n.*2192_*2193delinsTG) c.215_216delinsCA (p.Pro72=) | |
1 | g.45511408G>A | CA340135212 | MMACHC,PRDX1 | c.521C>T (p.Pro174Leu) c.*2193G>A (n.*2193G>A) c.215C>T (p.Pro72Leu) | gnomAD v4 |
1 | g.45511408G>C | CA340135213 | MMACHC,PRDX1 | c.521C>G (p.Pro174Arg) c.*2193G>C (n.*2193G>C) c.215C>G (p.Pro72Arg) | |
1 | g.45511408G>T | CA340135214 | MMACHC,PRDX1 | c.521C>A (p.Pro174Gln) c.*2193G>T (n.*2193G>T) c.215C>A (p.Pro72Gln) | |
1 | g.45511410del | CA2473785017 | MMACHC,PRDX1 | c.521del (p.Pro174GlnfsTer?) c.*2195del (n.*2195del) c.215del (p.Pro72GlnfsTer?) | dbSNP |
1 | g.45511409G>A | CA340135215 | MMACHC,PRDX1 | c.520C>T (p.Pro174Ser) c.*2194G>A (n.*2194G>A) c.214C>T (p.Pro72Ser) | |
1 | g.45511409G>C | CA340135216 | MMACHC,PRDX1 | c.520C>G (p.Pro174Ala) c.*2194G>C (n.*2194G>C) c.214C>G (p.Pro72Ala) | |
1 | g.45511409G>T | CA340135217 | MMACHC,PRDX1 | c.520C>A (p.Pro174Thr) c.*2194G>T (n.*2194G>T) c.214C>A (p.Pro72Thr) | |
1 | g.45511410G>A | CA417706186 | MMACHC,PRDX1 | c.519C>T (p.Cys173=) c.*2195G>A (n.*2195G>A) c.213C>T (p.Cys71=) | gnomAD v4 |
1 | g.45511410G>C | CA340135218 | MMACHC,PRDX1 | c.519C>G (p.Cys173Trp) c.*2195G>C (n.*2195G>C) c.213C>G (p.Cys71Trp) | |
1 | g.45511410G>T | CA340135219 | MMACHC,PRDX1 | c.519C>A (p.Cys173Ter) c.*2195G>T (n.*2195G>T) c.213C>A (p.Cys71Ter) | |
1 | g.45511411C>A | CA340135220 | MMACHC,PRDX1 | c.518G>T (p.Cys173Phe) c.*2196C>A (n.*2196C>A) c.212G>T (p.Cys71Phe) | |
1 | g.45511411C= | CA2473785018 | MMACHC,PRDX1 | c.518G= (p.Cys173=) c.*2196C= (n.*2196C=) c.212G= (p.Cys71=) | |
1 | g.45511411C>G | CA340135221 | MMACHC,PRDX1 | c.518G>C (p.Cys173Ser) c.*2196C>G (n.*2196C>G) c.212G>C (p.Cys71Ser) | |
1 | g.45511411C>T | CA340135222 | MMACHC,PRDX1 | c.518G>A (p.Cys173Tyr) c.*2196C>T (n.*2196C>T) c.212G>A (p.Cys71Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511412A= | CA2473785019 | MMACHC,PRDX1 | c.517T= (p.Cys173=) c.*2197A= (n.*2197A=) c.211T= (p.Cys71=) | |
1 | g.45511412A>C | CA340135223 | MMACHC,PRDX1 | c.517T>G (p.Cys173Gly) c.*2197A>C (n.*2197A>C) c.211T>G (p.Cys71Gly) | dbSNP gnomAD v4 |
1 | g.45511412A>G | CA340135224 | MMACHC,PRDX1 | c.517T>C (p.Cys173Arg) c.*2197A>G (n.*2197A>G) c.211T>C (p.Cys71Arg) | |
1 | g.45511412A>T | CA340135225 | MMACHC,PRDX1 | c.517T>A (p.Cys173Ser) c.*2197A>T (n.*2197A>T) c.211T>A (p.Cys71Ser) | |
1 | g.45511413C>A | CA417706187 | MMACHC,PRDX1 | c.516G>T (p.Val172=) c.*2198C>A (n.*2198C>A) c.210G>T (p.Val70=) | gnomAD v4 |
1 | g.45511413C= | CA2473785020 | MMACHC,PRDX1 | c.516G= (p.Val172=) c.*2198C= (n.*2198C=) c.210G= (p.Val70=) | |
1 | g.45511413C>G | CA417706188 | MMACHC,PRDX1 | c.516G>C (p.Val172=) c.*2198C>G (n.*2198C>G) c.210G>C (p.Val70=) | |
1 | g.45511413C>T | CA417706189 | MMACHC,PRDX1 | c.516G>A (p.Val172=) c.*2198C>T (n.*2198C>T) c.210G>A (p.Val70=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45511414A>C | CA340135226 | MMACHC,PRDX1 | c.515T>G (p.Val172Gly) c.*2199A>C (n.*2199A>C) c.209T>G (p.Val70Gly) | |
1 | g.45511414A>G | CA340135227 | MMACHC,PRDX1 | c.515T>C (p.Val172Ala) c.*2199A>G (n.*2199A>G) c.209T>C (p.Val70Ala) | |
1 | g.45511414A>T | CA340135228 | MMACHC,PRDX1 | c.515T>A (p.Val172Glu) c.*2199A>T (n.*2199A>T) c.209T>A (p.Val70Glu) | |
1 | g.45511415C>A | CA827919 | MMACHC,PRDX1 | c.515-1G>T (n.515-1G>T) c.*2200C>A (n.*2200C>A) c.209-1G>T (n.209-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45511415C= | CA2473785021 | MMACHC,PRDX1 | c.515-1G= (n.515-1G=) c.*2200C= (n.*2200C=) c.209-1G= (n.209-1G=) | |
1 | g.45511415C>G | CA340135229 | MMACHC,PRDX1 | c.515-1G>C (n.515-1G>C) c.*2200C>G (n.*2200C>G) c.209-1G>C (n.209-1G>C) | dbSNP |
1 | g.45511415C>T | CA340135230 | MMACHC,PRDX1 | c.515-1G>A (n.515-1G>A) c.*2200C>T (n.*2200C>T) c.209-1G>A (n.209-1G>A) | dbSNP |
1 | g.45511416T>A | CA340135232 | MMACHC,PRDX1 | c.515-2A>T (n.515-2A>T) c.*2201T>A (n.*2201T>A) c.209-2A>T (n.209-2A>T) | ClinVar dbSNP gnomAD v4 |
1 | g.45511416T>C | CA340135233 | MMACHC,PRDX1 | c.515-2A>G (n.515-2A>G) c.*2201T>C (n.*2201T>C) c.209-2A>G (n.209-2A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511416T>G | CA340135231 | MMACHC,PRDX1 | c.515-2A>C (n.515-2A>C) c.*2201T>G (n.*2201T>G) c.209-2A>C (n.209-2A>C) | |
1 | g.45511416T= | CA2473785022 | MMACHC,PRDX1 | c.515-2A= (n.515-2A=) c.*2201T= (n.*2201T=) c.209-2A= (n.209-2A=) | |
1 | g.45511416_45511417insTCCCCATGTTTGTCA | CA2645393058 | MMACHC,PRDX1 | c.515-3_515-2insTGACAAACATGGGGA (n.515-3_515-2insTGACAAACATGGGGA) c.*2201_*2202insTCCCCATGTTTGTCA (n.*2201_*2202insTCCCCATGTTTGTCA) c.209-3_209-2insTGACAAACATGGGGA (n.209-3_209-2insTGACAAACATGGGGA) | gnomAD v4 |
1 | g.45511417G>A | CA827920 | MMACHC,PRDX1 | c.515-3C>T (n.515-3C>T) c.*2202G>A (n.*2202G>A) c.209-3C>T (n.209-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511417G= | CA2473785023 | MMACHC,PRDX1 | c.515-3C= (n.515-3C=) c.*2202G= (n.*2202G=) c.209-3C= (n.209-3C=) | |
1 | g.45511417G>T | CA21831162 | MMACHC,PRDX1 | c.515-3C>A (n.515-3C>A) c.*2202G>T (n.*2202G>T) c.209-3C>A (n.209-3C>A) | dbSNP |
1 | g.45511418C= | CA2473785024 | MMACHC,PRDX1 | c.515-4G= (n.515-4G=) c.*2203C= (n.*2203C=) c.209-4G= (n.209-4G=) | |
1 | g.45511418C>G | CA2574352310 | MMACHC,PRDX1 | c.515-4G>C (n.515-4G>C) c.*2203C>G (n.*2203C>G) c.209-4G>C (n.209-4G>C) | gnomAD v4 |
1 | g.45511419A= | CA2473785026 | MMACHC,PRDX1 | c.515-5T= (n.515-5T=) c.*2204A= (n.*2204A=) c.209-5T= (n.209-5T=) | |
1 | g.45511419A>C | CA21831164 | MMACHC,PRDX1 | c.515-5T>G (n.515-5T>G) c.*2204A>C (n.*2204A>C) c.209-5T>G (n.209-5T>G) | dbSNP |
1 | g.45511420dup | CA2473785025 | MMACHC,PRDX1 | c.515-5dup (n.515-5dup) c.*2205dup (n.*2205dup) c.209-5dup (n.209-5dup) | dbSNP |
1 | g.45511420A= | CA2473785027 | MMACHC,PRDX1 | c.515-6T= (n.515-6T=) c.*2205A= (n.*2205A=) c.209-6T= (n.209-6T=) | |
1 | g.45511420A>C | CA21831168 | MMACHC,PRDX1 | c.515-6T>G (n.515-6T>G) c.*2205A>C (n.*2205A>C) c.209-6T>G (n.209-6T>G) | dbSNP |
1 | g.45511421G>A | CA21831171 | MMACHC,PRDX1 | c.515-7C>T (n.515-7C>T) c.*2206G>A (n.*2206G>A) c.209-7C>T (n.209-7C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511421G>C | CA21831173 | MMACHC,PRDX1 | c.515-7C>G (n.515-7C>G) c.*2206G>C (n.*2206G>C) c.209-7C>G (n.209-7C>G) | dbSNP |
1 | g.45511421G= | CA2473785028 | MMACHC,PRDX1 | c.515-7C= (n.515-7C=) c.*2206G= (n.*2206G=) c.209-7C= (n.209-7C=) | |
1 | g.45511422A= | CA1143506546 | MMACHC,PRDX1 | c.515-8T= (n.515-8T=) c.*2207A= (n.*2207A=) c.209-8T= (n.209-8T=) | |
1 | g.45511422A>C | CA21831175 | MMACHC,PRDX1 | c.515-8T>G (n.515-8T>G) c.*2207A>C (n.*2207A>C) c.209-8T>G (n.209-8T>G) | dbSNP |
1 | g.45511422A>G | CA2473785029 | MMACHC,PRDX1 | c.515-8T>C (n.515-8T>C) c.*2207A>G (n.*2207A>G) c.209-8T>C (n.209-8T>C) | dbSNP gnomAD v4 |
1 | g.45511423G>A | CA827921 | MMACHC,PRDX1 | c.515-9C>T (n.515-9C>T) c.*2208G>A (n.*2208G>A) c.209-9C>T (n.209-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45511423G= | CA2473785031 | MMACHC,PRDX1 | c.515-9C= (n.515-9C=) c.*2208G= (n.*2208G=) c.209-9C= (n.209-9C=) | |
1 | g.45511423_45511424delinsGA | CA2473785030 | MMACHC,PRDX1 | c.515-10_515-9delinsTC (n.515-10_515-9delinsTC) c.*2208_*2209delinsGA (n.*2208_*2209delinsGA) c.209-10_209-9delinsTC (n.209-10_209-9delinsTC) | |
1 | g.45511426del | CA827922 | MMACHC,PRDX1 | c.515-10del (n.515-10del) c.*2211del (n.*2211del) c.209-10del (n.209-10del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511427G>A | CA827923 | MMACHC,PRDX1 | c.515-13C>T (n.515-13C>T) c.*2212G>A (n.*2212G>A) c.209-13C>T (n.209-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45511427G>C | CA2645393066 | MMACHC,PRDX1 | c.515-13C>G (n.515-13C>G) c.*2212G>C (n.*2212G>C) c.209-13C>G (n.209-13C>G) | gnomAD v4 |
1 | g.45511427G= | CA2473785032 | MMACHC,PRDX1 | c.515-13C= (n.515-13C=) c.*2212G= (n.*2212G=) c.209-13C= (n.209-13C=) | |
1 | g.45511428G>A | CA2473785033 | MMACHC,PRDX1 | c.515-14C>T (n.515-14C>T) c.*2213G>A (n.*2213G>A) c.209-14C>T (n.209-14C>T) | dbSNP gnomAD v4 |
1 | g.45511428G>C | CA827924 | MMACHC,PRDX1 | c.515-14C>G (n.515-14C>G) c.*2213G>C (n.*2213G>C) c.209-14C>G (n.209-14C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45511428G= | CA1148867812 | MMACHC,PRDX1 | c.515-14C= (n.515-14C=) c.*2213G= (n.*2213G=) c.209-14C= (n.209-14C=) | |
1 | g.45511428G>T | CA2645393072 | MMACHC,PRDX1 | c.515-14C>A (n.515-14C>A) c.*2213G>T (n.*2213G>T) c.209-14C>A (n.209-14C>A) | gnomAD v4 |
1 | g.45511430A= | CA2473785034 | MMACHC,PRDX1 | c.515-16T= (n.515-16T=) c.*2215A= (n.*2215A=) c.209-16T= (n.209-16T=) | |
1 | g.45511430A>G | CA522560327 | MMACHC,PRDX1 | c.515-16T>C (n.515-16T>C) c.*2215A>G (n.*2215A>G) c.209-16T>C (n.209-16T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |