Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.74896245_74896257del | CA2580089997 | MPI | c.764_776del (p.Tyr255CysfsTer4) c.581_593del (p.Tyr194CysfsTer4) c.614_626del (p.Tyr205CysfsTer4) c.704_716del (p.Tyr235CysfsTer4) c.256-1294_256-1282del (n.256-1294_256-1282del) c.431_443del (p.Tyr144CysfsTer4) n.812_824del c.542_554del (p.Tyr181CysfsTer4) c.752_764del (p.Tyr251CysfsTer4) | ClinVar |
15 | g.74896246C>A | CA7662541 | MPI | c.765C>A (p.Tyr255Ter) c.582C>A (p.Tyr194Ter) c.615C>A (p.Tyr205Ter) c.705C>A (p.Tyr235Ter) c.256-1293C>A (n.256-1293C>A) c.432C>A (p.Tyr144Ter) n.813C>A c.543C>A (p.Tyr181Ter) c.753C>A (p.Tyr251Ter) | dbSNP ExAC gnomAD v2 |
15 | g.74896246C= | CA2187901858 | MPI | c.765C= (p.Tyr255=) c.582C= (p.Tyr194=) c.615C= (p.Tyr205=) c.705C= (p.Tyr235=) c.256-1293C= (n.256-1293C=) c.432C= (p.Tyr144=) n.813C= c.543C= (p.Tyr181=) c.753C= (p.Tyr251=) | |
15 | g.74896246C>G | CA393175960 | MPI | c.765C>G (p.Tyr255Ter) c.582C>G (p.Tyr194Ter) c.615C>G (p.Tyr205Ter) c.705C>G (p.Tyr235Ter) c.256-1293C>G (n.256-1293C>G) c.432C>G (p.Tyr144Ter) n.813C>G c.543C>G (p.Tyr181Ter) c.753C>G (p.Tyr251Ter) | |
15 | g.74896246C>T | CA491491411 | MPI | c.765C>T (p.Tyr255=) c.582C>T (p.Tyr194=) c.615C>T (p.Tyr205=) c.705C>T (p.Tyr235=) c.256-1293C>T (n.256-1293C>T) c.432C>T (p.Tyr144=) n.813C>T c.543C>T (p.Tyr181=) c.753C>T (p.Tyr251=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896247T>A | CA393175961 | MPI | c.766T>A (p.Phe256Ile) c.583T>A (p.Phe195Ile) c.616T>A (p.Phe206Ile) c.706T>A (p.Phe236Ile) c.256-1292T>A (n.256-1292T>A) c.433T>A (p.Phe145Ile) n.814T>A c.544T>A (p.Phe182Ile) c.754T>A (p.Phe252Ile) | |
15 | g.74896247T>C | CA393175962 | MPI | c.766T>C (p.Phe256Leu) c.583T>C (p.Phe195Leu) c.616T>C (p.Phe206Leu) c.706T>C (p.Phe236Leu) c.256-1292T>C (n.256-1292T>C) c.433T>C (p.Phe145Leu) n.814T>C c.544T>C (p.Phe182Leu) c.754T>C (p.Phe252Leu) | |
15 | g.74896247T>G | CA393175963 | MPI | c.766T>G (p.Phe256Val) c.583T>G (p.Phe195Val) c.616T>G (p.Phe206Val) c.706T>G (p.Phe236Val) c.256-1292T>G (n.256-1292T>G) c.433T>G (p.Phe145Val) n.814T>G c.544T>G (p.Phe182Val) c.754T>G (p.Phe252Val) | |
15 | g.74896248T>A | CA393175964 | MPI | c.767T>A (p.Phe256Tyr) c.584T>A (p.Phe195Tyr) c.617T>A (p.Phe206Tyr) c.707T>A (p.Phe236Tyr) c.256-1291T>A (n.256-1291T>A) c.434T>A (p.Phe145Tyr) n.815T>A c.545T>A (p.Phe182Tyr) c.755T>A (p.Phe252Tyr) | |
15 | g.74896248T>C | CA393175965 | MPI | c.767T>C (p.Phe256Ser) c.584T>C (p.Phe195Ser) c.617T>C (p.Phe206Ser) c.707T>C (p.Phe236Ser) c.256-1291T>C (n.256-1291T>C) c.434T>C (p.Phe145Ser) n.815T>C c.545T>C (p.Phe182Ser) c.755T>C (p.Phe252Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896248T>G | CA393175966 | MPI | c.767T>G (p.Phe256Cys) c.584T>G (p.Phe195Cys) c.617T>G (p.Phe206Cys) c.707T>G (p.Phe236Cys) c.256-1291T>G (n.256-1291T>G) c.434T>G (p.Phe145Cys) n.815T>G c.545T>G (p.Phe182Cys) c.755T>G (p.Phe252Cys) | |
15 | g.74896248T= | CA2187901861 | MPI | c.767T= (p.Phe256=) c.584T= (p.Phe195=) c.617T= (p.Phe206=) c.707T= (p.Phe236=) c.256-1291T= (n.256-1291T=) c.434T= (p.Phe145=) n.815T= c.545T= (p.Phe182=) c.755T= (p.Phe252=) | |
15 | g.74896249C>A | CA393175967 | MPI | c.768C>A (p.Phe256Leu) c.585C>A (p.Phe195Leu) c.618C>A (p.Phe206Leu) c.708C>A (p.Phe236Leu) c.256-1290C>A (n.256-1290C>A) c.435C>A (p.Phe145Leu) n.816C>A c.546C>A (p.Phe182Leu) c.756C>A (p.Phe252Leu) | |
15 | g.74896249C= | CA2187901864 | MPI | c.768C= (p.Phe256=) c.585C= (p.Phe195=) c.618C= (p.Phe206=) c.708C= (p.Phe236=) c.256-1290C= (n.256-1290C=) c.435C= (p.Phe145=) n.816C= c.546C= (p.Phe182=) c.756C= (p.Phe252=) | |
15 | g.74896249C>G | CA393175968 | MPI | c.768C>G (p.Phe256Leu) c.585C>G (p.Phe195Leu) c.618C>G (p.Phe206Leu) c.708C>G (p.Phe236Leu) c.256-1290C>G (n.256-1290C>G) c.435C>G (p.Phe145Leu) n.816C>G c.546C>G (p.Phe182Leu) c.756C>G (p.Phe252Leu) | |
15 | g.74896249C>T | CA491491412 | MPI | c.768C>T (p.Phe256=) c.585C>T (p.Phe195=) c.618C>T (p.Phe206=) c.708C>T (p.Phe236=) c.256-1290C>T (n.256-1290C>T) c.435C>T (p.Phe145=) n.816C>T c.546C>T (p.Phe182=) c.756C>T (p.Phe252=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896250C>A | CA393175969 | MPI | c.769C>A (p.Leu257Met) c.586C>A (p.Leu196Met) c.619C>A (p.Leu207Met) c.709C>A (p.Leu237Met) c.256-1289C>A (n.256-1289C>A) c.436C>A (p.Leu146Met) n.817C>A c.547C>A (p.Leu183Met) c.757C>A (p.Leu253Met) | |
15 | g.74896250C= | CA2187901871 | MPI | c.769C= (p.Leu257=) c.586C= (p.Leu196=) c.619C= (p.Leu207=) c.709C= (p.Leu237=) c.256-1289C= (n.256-1289C=) c.436C= (p.Leu146=) n.817C= c.547C= (p.Leu183=) c.757C= (p.Leu253=) | |
15 | g.74896250C>G | CA393175970 | MPI | c.769C>G (p.Leu257Val) c.586C>G (p.Leu196Val) c.619C>G (p.Leu207Val) c.709C>G (p.Leu237Val) c.256-1289C>G (n.256-1289C>G) c.436C>G (p.Leu146Val) n.817C>G c.547C>G (p.Leu183Val) c.757C>G (p.Leu253Val) | |
15 | g.74896250C>T | CA491491413 | MPI | c.769C>T (p.Leu257=) c.586C>T (p.Leu196=) c.619C>T (p.Leu207=) c.709C>T (p.Leu237=) c.256-1289C>T (n.256-1289C>T) c.436C>T (p.Leu146=) n.817C>T c.547C>T (p.Leu183=) c.757C>T (p.Leu253=) | ClinVar dbSNP |
15 | g.74896251T>A | CA393175971 | MPI | c.770T>A (p.Leu257Gln) c.587T>A (p.Leu196Gln) c.620T>A (p.Leu207Gln) c.710T>A (p.Leu237Gln) c.256-1288T>A (n.256-1288T>A) c.437T>A (p.Leu146Gln) n.818T>A c.548T>A (p.Leu183Gln) c.758T>A (p.Leu253Gln) | |
15 | g.74896251T>C | CA393175972 | MPI | c.770T>C (p.Leu257Pro) c.587T>C (p.Leu196Pro) c.620T>C (p.Leu207Pro) c.710T>C (p.Leu237Pro) c.256-1288T>C (n.256-1288T>C) c.437T>C (p.Leu146Pro) n.818T>C c.548T>C (p.Leu183Pro) c.758T>C (p.Leu253Pro) | gnomAD v4 |
15 | g.74896251T>G | CA393175973 | MPI | c.770T>G (p.Leu257Arg) c.587T>G (p.Leu196Arg) c.620T>G (p.Leu207Arg) c.710T>G (p.Leu237Arg) c.256-1288T>G (n.256-1288T>G) c.437T>G (p.Leu146Arg) n.818T>G c.548T>G (p.Leu183Arg) c.758T>G (p.Leu253Arg) | dbSNP |
15 | g.74896251T= | CA2187901876 | MPI | c.770T= (p.Leu257=) c.587T= (p.Leu196=) c.620T= (p.Leu207=) c.710T= (p.Leu237=) c.256-1288T= (n.256-1288T=) c.437T= (p.Leu146=) n.818T= c.548T= (p.Leu183=) c.758T= (p.Leu253=) | |
15 | g.74896252G>A | CA491491416 | MPI | c.771G>A (p.Leu257=) c.588G>A (p.Leu196=) c.621G>A (p.Leu207=) c.711G>A (p.Leu237=) c.256-1287G>A (n.256-1287G>A) c.438G>A (p.Leu146=) n.819G>A c.549G>A (p.Leu183=) c.759G>A (p.Leu253=) | ClinVar dbSNP |
15 | g.74896252G>C | CA491491415 | MPI | c.771G>C (p.Leu257=) c.588G>C (p.Leu196=) c.621G>C (p.Leu207=) c.711G>C (p.Leu237=) c.256-1287G>C (n.256-1287G>C) c.438G>C (p.Leu146=) n.819G>C c.549G>C (p.Leu183=) c.759G>C (p.Leu253=) | |
15 | g.74896252G>T | CA491491414 | MPI | c.771G>T (p.Leu257=) c.588G>T (p.Leu196=) c.621G>T (p.Leu207=) c.711G>T (p.Leu237=) c.256-1287G>T (n.256-1287G>T) c.438G>T (p.Leu146=) n.819G>T c.549G>T (p.Leu183=) c.759G>T (p.Leu253=) | |
15 | g.74896253A>C | CA393175974 | MPI | c.772A>C (p.Asn258His) c.589A>C (p.Asn197His) c.622A>C (p.Asn208His) c.712A>C (p.Asn238His) c.256-1286A>C (n.256-1286A>C) c.439A>C (p.Asn147His) n.820A>C c.550A>C (p.Asn184His) c.760A>C (p.Asn254His) | |
15 | g.74896253A>G | CA393175975 | MPI | c.772A>G (p.Asn258Asp) c.589A>G (p.Asn197Asp) c.622A>G (p.Asn208Asp) c.712A>G (p.Asn238Asp) c.256-1286A>G (n.256-1286A>G) c.439A>G (p.Asn147Asp) n.820A>G c.550A>G (p.Asn184Asp) c.760A>G (p.Asn254Asp) | |
15 | g.74896253A>T | CA393175976 | MPI | c.772A>T (p.Asn258Tyr) c.589A>T (p.Asn197Tyr) c.622A>T (p.Asn208Tyr) c.712A>T (p.Asn238Tyr) c.256-1286A>T (n.256-1286A>T) c.439A>T (p.Asn147Tyr) n.820A>T c.550A>T (p.Asn184Tyr) c.760A>T (p.Asn254Tyr) | |
15 | g.74896254A>C | CA393175977 | MPI | c.773A>C (p.Asn258Thr) c.590A>C (p.Asn197Thr) c.623A>C (p.Asn208Thr) c.713A>C (p.Asn238Thr) c.256-1285A>C (n.256-1285A>C) c.440A>C (p.Asn147Thr) n.821A>C c.551A>C (p.Asn184Thr) c.761A>C (p.Asn254Thr) | |
15 | g.74896254A>G | CA393175978 | MPI | c.773A>G (p.Asn258Ser) c.590A>G (p.Asn197Ser) c.623A>G (p.Asn208Ser) c.713A>G (p.Asn238Ser) c.256-1285A>G (n.256-1285A>G) c.440A>G (p.Asn147Ser) n.821A>G c.551A>G (p.Asn184Ser) c.761A>G (p.Asn254Ser) | COSMIC |
15 | g.74896254A>T | CA393175979 | MPI | c.773A>T (p.Asn258Ile) c.590A>T (p.Asn197Ile) c.623A>T (p.Asn208Ile) c.713A>T (p.Asn238Ile) c.256-1285A>T (n.256-1285A>T) c.440A>T (p.Asn147Ile) n.821A>T c.551A>T (p.Asn184Ile) c.761A>T (p.Asn254Ile) | gnomAD v4 |
15 | g.74896255C>A | CA393175980 | MPI | c.774C>A (p.Asn258Lys) c.591C>A (p.Asn197Lys) c.624C>A (p.Asn208Lys) c.714C>A (p.Asn238Lys) c.256-1284C>A (n.256-1284C>A) c.441C>A (p.Asn147Lys) n.822C>A c.552C>A (p.Asn184Lys) c.762C>A (p.Asn254Lys) | |
15 | g.74896255C= | CA2187901879 | MPI | c.774C= (p.Asn258=) c.591C= (p.Asn197=) c.624C= (p.Asn208=) c.714C= (p.Asn238=) c.256-1284C= (n.256-1284C=) c.441C= (p.Asn147=) n.822C= c.552C= (p.Asn184=) c.762C= (p.Asn254=) | |
15 | g.74896255C>G | CA393175981 | MPI | c.774C>G (p.Asn258Lys) c.591C>G (p.Asn197Lys) c.624C>G (p.Asn208Lys) c.714C>G (p.Asn238Lys) c.256-1284C>G (n.256-1284C>G) c.441C>G (p.Asn147Lys) n.822C>G c.552C>G (p.Asn184Lys) c.762C>G (p.Asn254Lys) | |
15 | g.74896255C>T | CA491491417 | MPI | c.774C>T (p.Asn258=) c.591C>T (p.Asn197=) c.624C>T (p.Asn208=) c.714C>T (p.Asn238=) c.256-1284C>T (n.256-1284C>T) c.441C>T (p.Asn147=) n.822C>T c.552C>T (p.Asn184=) c.762C>T (p.Asn254=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896256C>A | CA393175982 | MPI | c.775C>A (p.Leu259Met) c.592C>A (p.Leu198Met) c.625C>A (p.Leu209Met) c.715C>A (p.Leu239Met) c.256-1283C>A (n.256-1283C>A) c.442C>A (p.Leu148Met) n.823C>A c.553C>A (p.Leu185Met) c.763C>A (p.Leu255Met) | |
15 | g.74896256C>G | CA393175983 | MPI | c.775C>G (p.Leu259Val) c.592C>G (p.Leu198Val) c.625C>G (p.Leu209Val) c.715C>G (p.Leu239Val) c.256-1283C>G (n.256-1283C>G) c.442C>G (p.Leu148Val) n.823C>G c.553C>G (p.Leu185Val) c.763C>G (p.Leu255Val) | |
15 | g.74896256C>T | CA491491418 | MPI | c.775C>T (p.Leu259=) c.592C>T (p.Leu198=) c.625C>T (p.Leu209=) c.715C>T (p.Leu239=) c.256-1283C>T (n.256-1283C>T) c.442C>T (p.Leu148=) n.823C>T c.553C>T (p.Leu185=) c.763C>T (p.Leu255=) | ClinVar dbSNP |
15 | g.74896257T>A | CA393175984 | MPI | c.776T>A (p.Leu259Gln) c.593T>A (p.Leu198Gln) c.626T>A (p.Leu209Gln) c.716T>A (p.Leu239Gln) c.256-1282T>A (n.256-1282T>A) c.443T>A (p.Leu148Gln) n.824T>A c.554T>A (p.Leu185Gln) c.764T>A (p.Leu255Gln) | |
15 | g.74896257T>C | CA393175986 | MPI | c.776T>C (p.Leu259Pro) c.593T>C (p.Leu198Pro) c.626T>C (p.Leu209Pro) c.716T>C (p.Leu239Pro) c.256-1282T>C (n.256-1282T>C) c.443T>C (p.Leu148Pro) n.824T>C c.554T>C (p.Leu185Pro) c.764T>C (p.Leu255Pro) | gnomAD v4 |
15 | g.74896257T>G | CA393175985 | MPI | c.776T>G (p.Leu259Arg) c.593T>G (p.Leu198Arg) c.626T>G (p.Leu209Arg) c.716T>G (p.Leu239Arg) c.256-1282T>G (n.256-1282T>G) c.443T>G (p.Leu148Arg) n.824T>G c.554T>G (p.Leu185Arg) c.764T>G (p.Leu255Arg) | |
15 | g.74896258G>A | CA491491419 | MPI | c.777G>A (p.Leu259=) c.594G>A (p.Leu198=) c.627G>A (p.Leu209=) c.717G>A (p.Leu239=) c.256-1281G>A (n.256-1281G>A) c.444G>A (p.Leu148=) n.825G>A c.555G>A (p.Leu185=) c.765G>A (p.Leu255=) | ClinVar gnomAD v4 |
15 | g.74896258G>C | CA491491420 | MPI | c.777G>C (p.Leu259=) c.594G>C (p.Leu198=) c.627G>C (p.Leu209=) c.717G>C (p.Leu239=) c.256-1281G>C (n.256-1281G>C) c.444G>C (p.Leu148=) n.825G>C c.555G>C (p.Leu185=) c.765G>C (p.Leu255=) | gnomAD v4 |
15 | g.74896258G= | CA2187901882 | MPI | c.777G= (p.Leu259=) c.594G= (p.Leu198=) c.627G= (p.Leu209=) c.717G= (p.Leu239=) c.256-1281G= (n.256-1281G=) c.444G= (p.Leu148=) n.825G= c.555G= (p.Leu185=) c.765G= (p.Leu255=) | |
15 | g.74896258G>T | CA7662542 | MPI | c.777G>T (p.Leu259=) c.594G>T (p.Leu198=) c.627G>T (p.Leu209=) c.717G>T (p.Leu239=) c.256-1281G>T (n.256-1281G>T) c.444G>T (p.Leu148=) n.825G>T c.555G>T (p.Leu185=) c.765G>T (p.Leu255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896259C>A | CA393175987 | MPI | c.778C>A (p.Leu260Ile) c.595C>A (p.Leu199Ile) c.628C>A (p.Leu210Ile) c.718C>A (p.Leu240Ile) c.256-1280C>A (n.256-1280C>A) c.445C>A (p.Leu149Ile) n.826C>A c.556C>A (p.Leu186Ile) c.766C>A (p.Leu256Ile) | |
15 | g.74896259C= | CA2187901888 | MPI | c.778C= (p.Leu260=) c.595C= (p.Leu199=) c.628C= (p.Leu210=) c.718C= (p.Leu240=) c.256-1280C= (n.256-1280C=) c.445C= (p.Leu149=) n.826C= c.556C= (p.Leu186=) c.766C= (p.Leu256=) | |
15 | g.74896259C>G | CA393175988 | MPI | c.778C>G (p.Leu260Val) c.595C>G (p.Leu199Val) c.628C>G (p.Leu210Val) c.718C>G (p.Leu240Val) c.256-1280C>G (n.256-1280C>G) c.445C>G (p.Leu149Val) n.826C>G c.556C>G (p.Leu186Val) c.766C>G (p.Leu256Val) | |
15 | g.74896259C>T | CA393175989 | MPI | c.778C>T (p.Leu260Phe) c.595C>T (p.Leu199Phe) c.628C>T (p.Leu210Phe) c.718C>T (p.Leu240Phe) c.256-1280C>T (n.256-1280C>T) c.445C>T (p.Leu149Phe) n.826C>T c.556C>T (p.Leu186Phe) c.766C>T (p.Leu256Phe) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896260T>A | CA393175990 | MPI | c.779T>A (p.Leu260His) c.596T>A (p.Leu199His) c.629T>A (p.Leu210His) c.719T>A (p.Leu240His) c.256-1279T>A (n.256-1279T>A) c.446T>A (p.Leu149His) n.827T>A c.557T>A (p.Leu186His) c.767T>A (p.Leu256His) | |
15 | g.74896260T>C | CA393175991 | MPI | c.779T>C (p.Leu260Pro) c.596T>C (p.Leu199Pro) c.629T>C (p.Leu210Pro) c.719T>C (p.Leu240Pro) c.256-1279T>C (n.256-1279T>C) c.446T>C (p.Leu149Pro) n.827T>C c.557T>C (p.Leu186Pro) c.767T>C (p.Leu256Pro) | |
15 | g.74896260T>G | CA393175992 | MPI | c.779T>G (p.Leu260Arg) c.596T>G (p.Leu199Arg) c.629T>G (p.Leu210Arg) c.719T>G (p.Leu240Arg) c.256-1279T>G (n.256-1279T>G) c.446T>G (p.Leu149Arg) n.827T>G c.557T>G (p.Leu186Arg) c.767T>G (p.Leu256Arg) | |
15 | g.74896261T>A | CA491491421 | MPI | c.780T>A (p.Leu260=) c.597T>A (p.Leu199=) c.630T>A (p.Leu210=) c.720T>A (p.Leu240=) c.256-1278T>A (n.256-1278T>A) c.447T>A (p.Leu149=) n.828T>A c.558T>A (p.Leu186=) c.768T>A (p.Leu256=) | |
15 | g.74896261T>C | CA7662543 | MPI | c.780T>C (p.Leu260=) c.597T>C (p.Leu199=) c.630T>C (p.Leu210=) c.720T>C (p.Leu240=) c.256-1278T>C (n.256-1278T>C) c.447T>C (p.Leu149=) n.828T>C c.558T>C (p.Leu186=) c.768T>C (p.Leu256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896261T>G | CA491491422 | MPI | c.780T>G (p.Leu260=) c.597T>G (p.Leu199=) c.630T>G (p.Leu210=) c.720T>G (p.Leu240=) c.256-1278T>G (n.256-1278T>G) c.447T>G (p.Leu149=) n.828T>G c.558T>G (p.Leu186=) c.768T>G (p.Leu256=) | |
15 | g.74896261T= | CA2187901891 | MPI | c.780T= (p.Leu260=) c.597T= (p.Leu199=) c.630T= (p.Leu210=) c.720T= (p.Leu240=) c.256-1278T= (n.256-1278T=) c.447T= (p.Leu149=) n.828T= c.558T= (p.Leu186=) c.768T= (p.Leu256=) | |
15 | g.74896262A= | CA2187901898 | MPI | c.781A= (p.Thr261=) c.598A= (p.Thr200=) c.631A= (p.Thr211=) c.721A= (p.Thr241=) c.256-1277A= (n.256-1277A=) c.448A= (p.Thr150=) n.829A= c.559A= (p.Thr187=) c.769A= (p.Thr257=) | |
15 | g.74896262A>C | CA393175993 | MPI | c.781A>C (p.Thr261Pro) c.598A>C (p.Thr200Pro) c.631A>C (p.Thr211Pro) c.721A>C (p.Thr241Pro) c.256-1277A>C (n.256-1277A>C) c.448A>C (p.Thr150Pro) n.829A>C c.559A>C (p.Thr187Pro) c.769A>C (p.Thr257Pro) | |
15 | g.74896262A>G | CA393175994 | MPI | c.781A>G (p.Thr261Ala) c.598A>G (p.Thr200Ala) c.631A>G (p.Thr211Ala) c.721A>G (p.Thr241Ala) c.256-1277A>G (n.256-1277A>G) c.448A>G (p.Thr150Ala) n.829A>G c.559A>G (p.Thr187Ala) c.769A>G (p.Thr257Ala) | ClinVar dbSNP gnomAD v4 |
15 | g.74896262A>T | CA393175995 | MPI | c.781A>T (p.Thr261Ser) c.598A>T (p.Thr200Ser) c.631A>T (p.Thr211Ser) c.721A>T (p.Thr241Ser) c.256-1277A>T (n.256-1277A>T) c.448A>T (p.Thr150Ser) n.829A>T c.559A>T (p.Thr187Ser) c.769A>T (p.Thr257Ser) | |
15 | g.74896263C>A | CA393175996 | MPI | c.782C>A (p.Thr261Asn) c.599C>A (p.Thr200Asn) c.632C>A (p.Thr211Asn) c.722C>A (p.Thr241Asn) c.256-1276C>A (n.256-1276C>A) c.449C>A (p.Thr150Asn) n.830C>A c.560C>A (p.Thr187Asn) c.770C>A (p.Thr257Asn) | |
15 | g.74896263C>G | CA393175997 | MPI | c.782C>G (p.Thr261Ser) c.599C>G (p.Thr200Ser) c.632C>G (p.Thr211Ser) c.722C>G (p.Thr241Ser) c.256-1276C>G (n.256-1276C>G) c.449C>G (p.Thr150Ser) n.830C>G c.560C>G (p.Thr187Ser) c.770C>G (p.Thr257Ser) | |
15 | g.74896263C>T | CA393175998 | MPI | c.782C>T (p.Thr261Ile) c.599C>T (p.Thr200Ile) c.632C>T (p.Thr211Ile) c.722C>T (p.Thr241Ile) c.256-1276C>T (n.256-1276C>T) c.449C>T (p.Thr150Ile) n.830C>T c.560C>T (p.Thr187Ile) c.770C>T (p.Thr257Ile) | |
15 | g.74896264C>A | CA491491423 | MPI | c.783C>A (p.Thr261=) c.600C>A (p.Thr200=) c.633C>A (p.Thr211=) c.723C>A (p.Thr241=) c.256-1275C>A (n.256-1275C>A) c.450C>A (p.Thr150=) n.831C>A c.561C>A (p.Thr187=) c.771C>A (p.Thr257=) | ClinVar dbSNP |
15 | g.74896264C>G | CA491491425 | MPI | c.783C>G (p.Thr261=) c.600C>G (p.Thr200=) c.633C>G (p.Thr211=) c.723C>G (p.Thr241=) c.256-1275C>G (n.256-1275C>G) c.450C>G (p.Thr150=) n.831C>G c.561C>G (p.Thr187=) c.771C>G (p.Thr257=) | |
15 | g.74896264C>T | CA491491424 | MPI | c.783C>T (p.Thr261=) c.600C>T (p.Thr200=) c.633C>T (p.Thr211=) c.723C>T (p.Thr241=) c.256-1275C>T (n.256-1275C>T) c.450C>T (p.Thr150=) n.831C>T c.561C>T (p.Thr187=) c.771C>T (p.Thr257=) | ClinVar dbSNP |
15 | g.74896265C>A | CA393175999 | MPI | c.784C>A (p.Leu262Met) c.601C>A (p.Leu201Met) c.634C>A (p.Leu212Met) c.724C>A (p.Leu242Met) c.256-1274C>A (n.256-1274C>A) c.451C>A (p.Leu151Met) n.832C>A c.562C>A (p.Leu188Met) c.772C>A (p.Leu258Met) | |
15 | g.74896265C>G | CA393176000 | MPI | c.784C>G (p.Leu262Val) c.601C>G (p.Leu201Val) c.634C>G (p.Leu212Val) c.724C>G (p.Leu242Val) c.256-1274C>G (n.256-1274C>G) c.451C>G (p.Leu151Val) n.832C>G c.562C>G (p.Leu188Val) c.772C>G (p.Leu258Val) | |
15 | g.74896265C>T | CA491491426 | MPI | c.784C>T (p.Leu262=) c.601C>T (p.Leu201=) c.634C>T (p.Leu212=) c.724C>T (p.Leu242=) c.256-1274C>T (n.256-1274C>T) c.451C>T (p.Leu151=) n.832C>T c.562C>T (p.Leu188=) c.772C>T (p.Leu258=) | gnomAD v4 |
15 | g.74896266T>A | CA393176001 | MPI | c.785T>A (p.Leu262Gln) c.602T>A (p.Leu201Gln) c.635T>A (p.Leu212Gln) c.725T>A (p.Leu242Gln) c.256-1273T>A (n.256-1273T>A) c.452T>A (p.Leu151Gln) n.833T>A c.563T>A (p.Leu188Gln) c.773T>A (p.Leu258Gln) | |
15 | g.74896266T>C | CA393176002 | MPI | c.785T>C (p.Leu262Pro) c.602T>C (p.Leu201Pro) c.635T>C (p.Leu212Pro) c.725T>C (p.Leu242Pro) c.256-1273T>C (n.256-1273T>C) c.452T>C (p.Leu151Pro) n.833T>C c.563T>C (p.Leu188Pro) c.773T>C (p.Leu258Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896266T>G | CA393176003 | MPI | c.785T>G (p.Leu262Arg) c.602T>G (p.Leu201Arg) c.635T>G (p.Leu212Arg) c.725T>G (p.Leu242Arg) c.256-1273T>G (n.256-1273T>G) c.452T>G (p.Leu151Arg) n.833T>G c.563T>G (p.Leu188Arg) c.773T>G (p.Leu258Arg) | |
15 | g.74896266T= | CA2187901903 | MPI | c.785T= (p.Leu262=) c.602T= (p.Leu201=) c.635T= (p.Leu212=) c.725T= (p.Leu242=) c.256-1273T= (n.256-1273T=) c.452T= (p.Leu151=) n.833T= c.563T= (p.Leu188=) c.773T= (p.Leu258=) | |
15 | g.74896267G>A | CA491491427 | MPI | c.786G>A (p.Leu262=) c.603G>A (p.Leu201=) c.636G>A (p.Leu212=) c.726G>A (p.Leu242=) c.256-1272G>A (n.256-1272G>A) c.453G>A (p.Leu151=) n.834G>A c.564G>A (p.Leu188=) c.774G>A (p.Leu258=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896267G>C | CA491491428 | MPI | c.786G>C (p.Leu262=) c.603G>C (p.Leu201=) c.636G>C (p.Leu212=) c.726G>C (p.Leu242=) c.256-1272G>C (n.256-1272G>C) c.453G>C (p.Leu151=) n.834G>C c.564G>C (p.Leu188=) c.774G>C (p.Leu258=) | |
15 | g.74896267G= | CA2187901906 | MPI | c.786G= (p.Leu262=) c.603G= (p.Leu201=) c.636G= (p.Leu212=) c.726G= (p.Leu242=) c.256-1272G= (n.256-1272G=) c.453G= (p.Leu151=) n.834G= c.564G= (p.Leu188=) c.774G= (p.Leu258=) | |
15 | g.74896267G>T | CA491491429 | MPI | c.786G>T (p.Leu262=) c.603G>T (p.Leu201=) c.636G>T (p.Leu212=) c.726G>T (p.Leu242=) c.256-1272G>T (n.256-1272G>T) c.453G>T (p.Leu151=) n.834G>T c.564G>T (p.Leu188=) c.774G>T (p.Leu258=) | |
15 | g.74896268A>C | CA393176004 | MPI | c.787A>C (p.Lys263Gln) c.604A>C (p.Lys202Gln) c.637A>C (p.Lys213Gln) c.727A>C (p.Lys243Gln) c.256-1271A>C (n.256-1271A>C) c.454A>C (p.Lys152Gln) n.835A>C c.565A>C (p.Lys189Gln) c.775A>C (p.Lys259Gln) | |
15 | g.74896268A>G | CA393176005 | MPI | c.787A>G (p.Lys263Glu) c.604A>G (p.Lys202Glu) c.637A>G (p.Lys213Glu) c.727A>G (p.Lys243Glu) c.256-1271A>G (n.256-1271A>G) c.454A>G (p.Lys152Glu) n.835A>G c.565A>G (p.Lys189Glu) c.775A>G (p.Lys259Glu) | |
15 | g.74896268A>T | CA393176006 | MPI | c.787A>T (p.Lys263Ter) c.604A>T (p.Lys202Ter) c.637A>T (p.Lys213Ter) c.727A>T (p.Lys243Ter) c.256-1271A>T (n.256-1271A>T) c.454A>T (p.Lys152Ter) n.835A>T c.565A>T (p.Lys189Ter) c.775A>T (p.Lys259Ter) | |
15 | g.74896269A>C | CA393176007 | MPI | c.788A>C (p.Lys263Thr) c.605A>C (p.Lys202Thr) c.638A>C (p.Lys213Thr) c.728A>C (p.Lys243Thr) c.256-1270A>C (n.256-1270A>C) c.455A>C (p.Lys152Thr) n.836A>C c.566A>C (p.Lys189Thr) c.776A>C (p.Lys259Thr) | |
15 | g.74896269A>G | CA393176008 | MPI | c.788A>G (p.Lys263Arg) c.605A>G (p.Lys202Arg) c.638A>G (p.Lys213Arg) c.728A>G (p.Lys243Arg) c.256-1270A>G (n.256-1270A>G) c.455A>G (p.Lys152Arg) n.836A>G c.566A>G (p.Lys189Arg) c.776A>G (p.Lys259Arg) | |
15 | g.74896269A>T | CA393176009 | MPI | c.788A>T (p.Lys263Met) c.605A>T (p.Lys202Met) c.638A>T (p.Lys213Met) c.728A>T (p.Lys243Met) c.256-1270A>T (n.256-1270A>T) c.455A>T (p.Lys152Met) n.836A>T c.566A>T (p.Lys189Met) c.776A>T (p.Lys259Met) | |
15 | g.74896270G>A | CA491491430 | MPI | c.789G>A (p.Lys263=) c.606G>A (p.Lys202=) c.639G>A (p.Lys213=) c.729G>A (p.Lys243=) c.256-1269G>A (n.256-1269G>A) c.456G>A (p.Lys152=) n.837G>A c.567G>A (p.Lys189=) c.777G>A (p.Lys259=) | |
15 | g.74896270G>C | CA393176010 | MPI | c.789G>C (p.Lys263Asn) c.606G>C (p.Lys202Asn) c.639G>C (p.Lys213Asn) c.729G>C (p.Lys243Asn) c.256-1269G>C (n.256-1269G>C) c.456G>C (p.Lys152Asn) n.837G>C c.567G>C (p.Lys189Asn) c.777G>C (p.Lys259Asn) | |
15 | g.74896270G= | CA2187901909 | MPI | c.789G= (p.Lys263=) c.606G= (p.Lys202=) c.639G= (p.Lys213=) c.729G= (p.Lys243=) c.256-1269G= (n.256-1269G=) c.456G= (p.Lys152=) n.837G= c.567G= (p.Lys189=) c.777G= (p.Lys259=) | |
15 | g.74896270G>T | CA393176011 | MPI | c.789G>T (p.Lys263Asn) c.606G>T (p.Lys202Asn) c.639G>T (p.Lys213Asn) c.729G>T (p.Lys243Asn) c.256-1269G>T (n.256-1269G>T) c.456G>T (p.Lys152Asn) n.837G>T c.567G>T (p.Lys189Asn) c.777G>T (p.Lys259Asn) | dbSNP |
15 | g.74896271C>A | CA393176014 | MPI | c.790C>A (p.Pro264Thr) c.607C>A (p.Pro203Thr) c.640C>A (p.Pro214Thr) c.730C>A (p.Pro244Thr) c.256-1268C>A (n.256-1268C>A) c.457C>A (p.Pro153Thr) n.838C>A c.568C>A (p.Pro190Thr) c.778C>A (p.Pro260Thr) | |
15 | g.74896271C>G | CA393176013 | MPI | c.790C>G (p.Pro264Ala) c.607C>G (p.Pro203Ala) c.640C>G (p.Pro214Ala) c.730C>G (p.Pro244Ala) c.256-1268C>G (n.256-1268C>G) c.457C>G (p.Pro153Ala) n.838C>G c.568C>G (p.Pro190Ala) c.778C>G (p.Pro260Ala) | |
15 | g.74896271C>T | CA393176012 | MPI | c.790C>T (p.Pro264Ser) c.607C>T (p.Pro203Ser) c.640C>T (p.Pro214Ser) c.730C>T (p.Pro244Ser) c.256-1268C>T (n.256-1268C>T) c.457C>T (p.Pro153Ser) n.838C>T c.568C>T (p.Pro190Ser) c.778C>T (p.Pro260Ser) | COSMIC |
15 | g.74896272C>A | CA393176015 | MPI | c.791C>A (p.Pro264His) c.608C>A (p.Pro203His) c.641C>A (p.Pro214His) c.731C>A (p.Pro244His) c.256-1267C>A (n.256-1267C>A) c.458C>A (p.Pro153His) n.839C>A c.569C>A (p.Pro190His) c.779C>A (p.Pro260His) | dbSNP gnomAD v4 |
15 | g.74896272C= | CA2187901914 | MPI | c.791C= (p.Pro264=) c.608C= (p.Pro203=) c.641C= (p.Pro214=) c.731C= (p.Pro244=) c.256-1267C= (n.256-1267C=) c.458C= (p.Pro153=) n.839C= c.569C= (p.Pro190=) c.779C= (p.Pro260=) | |
15 | g.74896272C>G | CA393176016 | MPI | c.791C>G (p.Pro264Arg) c.608C>G (p.Pro203Arg) c.641C>G (p.Pro214Arg) c.731C>G (p.Pro244Arg) c.256-1267C>G (n.256-1267C>G) c.458C>G (p.Pro153Arg) n.839C>G c.569C>G (p.Pro190Arg) c.779C>G (p.Pro260Arg) | |
15 | g.74896272C>T | CA272825505 | MPI | c.791C>T (p.Pro264Leu) c.608C>T (p.Pro203Leu) c.641C>T (p.Pro214Leu) c.731C>T (p.Pro244Leu) c.256-1267C>T (n.256-1267C>T) c.458C>T (p.Pro153Leu) n.839C>T c.569C>T (p.Pro190Leu) c.779C>T (p.Pro260Leu) | dbSNP |
15 | g.74896273T>A | CA491491433 | MPI | c.792T>A (p.Pro264=) c.609T>A (p.Pro203=) c.642T>A (p.Pro214=) c.732T>A (p.Pro244=) c.256-1266T>A (n.256-1266T>A) c.459T>A (p.Pro153=) n.840T>A c.570T>A (p.Pro190=) c.780T>A (p.Pro260=) | |
15 | g.74896273T>C | CA491491431 | MPI | c.792T>C (p.Pro264=) c.609T>C (p.Pro203=) c.642T>C (p.Pro214=) c.732T>C (p.Pro244=) c.256-1266T>C (n.256-1266T>C) c.459T>C (p.Pro153=) n.840T>C c.570T>C (p.Pro190=) c.780T>C (p.Pro260=) | ClinVar gnomAD v4 |
15 | g.74896273T>G | CA491491432 | MPI | c.792T>G (p.Pro264=) c.609T>G (p.Pro203=) c.642T>G (p.Pro214=) c.732T>G (p.Pro244=) c.256-1266T>G (n.256-1266T>G) c.459T>G (p.Pro153=) n.840T>G c.570T>G (p.Pro190=) c.780T>G (p.Pro260=) | |
15 | g.74896273dup | CA619413149 | MPI | c.792dup (p.Gly265TrpfsTer?) c.609dup (p.Gly204TrpfsTer?) c.642dup (p.Gly215TrpfsTer?) c.732dup (p.Gly245TrpfsTer19) c.256-1266dup (n.256-1266dup) c.792dup (p.Gly265TrpfsTer19) c.732dup (p.Gly245TrpfsTer?) c.459dup (p.Gly154TrpfsTer19) n.840dup c.570dup (p.Gly191TrpfsTer?) c.780dup (p.Gly261TrpfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896274G>A | CA393176017 | MPI | c.793G>A (p.Gly265Arg) c.610G>A (p.Gly204Arg) c.643G>A (p.Gly215Arg) c.733G>A (p.Gly245Arg) c.256-1265G>A (n.256-1265G>A) c.460G>A (p.Gly154Arg) n.841G>A c.571G>A (p.Gly191Arg) c.781G>A (p.Gly261Arg) | ClinVar dbSNP |
15 | g.74896274G>C | CA393176019 | MPI | c.793G>C (p.Gly265Arg) c.610G>C (p.Gly204Arg) c.643G>C (p.Gly215Arg) c.733G>C (p.Gly245Arg) c.256-1265G>C (n.256-1265G>C) c.460G>C (p.Gly154Arg) n.841G>C c.571G>C (p.Gly191Arg) c.781G>C (p.Gly261Arg) | |
15 | g.74896274G= | CA2187901924 | MPI | c.793G= (p.Gly265=) c.610G= (p.Gly204=) c.643G= (p.Gly215=) c.733G= (p.Gly245=) c.256-1265G= (n.256-1265G=) c.460G= (p.Gly154=) n.841G= c.571G= (p.Gly191=) c.781G= (p.Gly261=) | |
15 | g.74896274G>T | CA393176018 | MPI | c.793G>T (p.Gly265Trp) c.610G>T (p.Gly204Trp) c.643G>T (p.Gly215Trp) c.733G>T (p.Gly245Trp) c.256-1265G>T (n.256-1265G>T) c.460G>T (p.Gly154Trp) n.841G>T c.571G>T (p.Gly191Trp) c.781G>T (p.Gly261Trp) | |
15 | g.74896276_74896277del | CA2629530678 | MPI | c.795_796del (p.Glu266GlyfsTer?) c.612_613del (p.Glu205GlyfsTer?) c.645_646del (p.Glu216GlyfsTer?) c.735_736del (p.Glu246GlyfsTer17) c.256-1263_256-1262del (n.256-1263_256-1262del) c.795_796del (p.Glu266GlyfsTer17) c.735_736del (p.Glu246GlyfsTer?) c.462_463del (p.Glu155GlyfsTer17) n.843_844del c.573_574del (p.Glu192GlyfsTer?) c.783_784del (p.Glu262GlyfsTer?) | gnomAD v4 |
15 | g.74896275G>A | CA393176020 | MPI | c.794G>A (p.Gly265Glu) c.611G>A (p.Gly204Glu) c.644G>A (p.Gly215Glu) c.734G>A (p.Gly245Glu) c.256-1264G>A (n.256-1264G>A) c.461G>A (p.Gly154Glu) n.842G>A c.572G>A (p.Gly191Glu) c.782G>A (p.Gly261Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896275G>C | CA393176022 | MPI | c.794G>C (p.Gly265Ala) c.611G>C (p.Gly204Ala) c.644G>C (p.Gly215Ala) c.734G>C (p.Gly245Ala) c.256-1264G>C (n.256-1264G>C) c.461G>C (p.Gly154Ala) n.842G>C c.572G>C (p.Gly191Ala) c.782G>C (p.Gly261Ala) | |
15 | g.74896275G= | CA2187901927 | MPI | c.794G= (p.Gly265=) c.611G= (p.Gly204=) c.644G= (p.Gly215=) c.734G= (p.Gly245=) c.256-1264G= (n.256-1264G=) c.461G= (p.Gly154=) n.842G= c.572G= (p.Gly191=) c.782G= (p.Gly261=) | |
15 | g.74896275G>T | CA393176021 | MPI | c.794G>T (p.Gly265Val) c.611G>T (p.Gly204Val) c.644G>T (p.Gly215Val) c.734G>T (p.Gly245Val) c.256-1264G>T (n.256-1264G>T) c.461G>T (p.Gly154Val) n.842G>T c.572G>T (p.Gly191Val) c.782G>T (p.Gly261Val) | COSMIC |
15 | g.74896276G>A | CA491491434 | MPI | c.795G>A (p.Gly265=) c.612G>A (p.Gly204=) c.645G>A (p.Gly215=) c.735G>A (p.Gly245=) c.256-1263G>A (n.256-1263G>A) c.462G>A (p.Gly154=) n.843G>A c.573G>A (p.Gly191=) c.783G>A (p.Gly261=) | |
15 | g.74896276G>C | CA491491435 | MPI | c.795G>C (p.Gly265=) c.612G>C (p.Gly204=) c.645G>C (p.Gly215=) c.735G>C (p.Gly245=) c.256-1263G>C (n.256-1263G>C) c.462G>C (p.Gly154=) n.843G>C c.573G>C (p.Gly191=) c.783G>C (p.Gly261=) | |
15 | g.74896276G>T | CA491491436 | MPI | c.795G>T (p.Gly265=) c.612G>T (p.Gly204=) c.645G>T (p.Gly215=) c.735G>T (p.Gly245=) c.256-1263G>T (n.256-1263G>T) c.462G>T (p.Gly154=) n.843G>T c.573G>T (p.Gly191=) c.783G>T (p.Gly261=) | |
15 | g.74896277G>A | CA393176023 | MPI | c.796G>A (p.Glu266Lys) c.613G>A (p.Glu205Lys) c.646G>A (p.Glu216Lys) c.736G>A (p.Glu246Lys) c.256-1262G>A (n.256-1262G>A) c.463G>A (p.Glu155Lys) n.844G>A c.574G>A (p.Glu192Lys) c.784G>A (p.Glu262Lys) | ClinVar dbSNP |
15 | g.74896277G>C | CA393176024 | MPI | c.796G>C (p.Glu266Gln) c.613G>C (p.Glu205Gln) c.646G>C (p.Glu216Gln) c.736G>C (p.Glu246Gln) c.256-1262G>C (n.256-1262G>C) c.463G>C (p.Glu155Gln) n.844G>C c.574G>C (p.Glu192Gln) c.784G>C (p.Glu262Gln) | |
15 | g.74896277G= | CA2187901930 | MPI | c.796G= (p.Glu266=) c.613G= (p.Glu205=) c.646G= (p.Glu216=) c.736G= (p.Glu246=) c.256-1262G= (n.256-1262G=) c.463G= (p.Glu155=) n.844G= c.574G= (p.Glu192=) c.784G= (p.Glu262=) | |
15 | g.74896277G>T | CA393176025 | MPI | c.796G>T (p.Glu266Ter) c.613G>T (p.Glu205Ter) c.646G>T (p.Glu216Ter) c.736G>T (p.Glu246Ter) c.256-1262G>T (n.256-1262G>T) c.463G>T (p.Glu155Ter) n.844G>T c.574G>T (p.Glu192Ter) c.784G>T (p.Glu262Ter) | |
15 | g.74896278A>C | CA393176026 | MPI | c.797A>C (p.Glu266Ala) c.614A>C (p.Glu205Ala) c.647A>C (p.Glu216Ala) c.737A>C (p.Glu246Ala) c.256-1261A>C (n.256-1261A>C) c.464A>C (p.Glu155Ala) n.845A>C c.575A>C (p.Glu192Ala) c.785A>C (p.Glu262Ala) | |
15 | g.74896278A>G | CA393176027 | MPI | c.797A>G (p.Glu266Gly) c.614A>G (p.Glu205Gly) c.647A>G (p.Glu216Gly) c.737A>G (p.Glu246Gly) c.256-1261A>G (n.256-1261A>G) c.464A>G (p.Glu155Gly) n.845A>G c.575A>G (p.Glu192Gly) c.785A>G (p.Glu262Gly) | |
15 | g.74896278A>T | CA393176028 | MPI | c.797A>T (p.Glu266Val) c.614A>T (p.Glu205Val) c.647A>T (p.Glu216Val) c.737A>T (p.Glu246Val) c.256-1261A>T (n.256-1261A>T) c.464A>T (p.Glu155Val) n.845A>T c.575A>T (p.Glu192Val) c.785A>T (p.Glu262Val) | |
15 | g.74896279G>A | CA491491437 | MPI | c.798G>A (p.Glu266=) c.615G>A (p.Glu205=) c.648G>A (p.Glu216=) c.738G>A (p.Glu246=) c.256-1260G>A (n.256-1260G>A) c.465G>A (p.Glu155=) n.846G>A c.576G>A (p.Glu192=) c.786G>A (p.Glu262=) | |
15 | g.74896279G>C | CA393176029 | MPI | c.798G>C (p.Glu266Asp) c.615G>C (p.Glu205Asp) c.648G>C (p.Glu216Asp) c.738G>C (p.Glu246Asp) c.256-1260G>C (n.256-1260G>C) c.465G>C (p.Glu155Asp) n.846G>C c.576G>C (p.Glu192Asp) c.786G>C (p.Glu262Asp) | |
15 | g.74896279G>T | CA393176030 | MPI | c.798G>T (p.Glu266Asp) c.615G>T (p.Glu205Asp) c.648G>T (p.Glu216Asp) c.738G>T (p.Glu246Asp) c.256-1260G>T (n.256-1260G>T) c.465G>T (p.Glu155Asp) n.846G>T c.576G>T (p.Glu192Asp) c.786G>T (p.Glu262Asp) | |
15 | g.74896280G>A | CA393176031 | MPI | c.799G>A (p.Ala267Thr) c.616G>A (p.Ala206Thr) c.649G>A (p.Ala217Thr) c.739G>A (p.Ala247Thr) c.256-1259G>A (n.256-1259G>A) c.466G>A (p.Ala156Thr) n.847G>A c.577G>A (p.Ala193Thr) c.787G>A (p.Ala263Thr) | |
15 | g.74896280G>C | CA393176032 | MPI | c.799G>C (p.Ala267Pro) c.616G>C (p.Ala206Pro) c.649G>C (p.Ala217Pro) c.739G>C (p.Ala247Pro) c.256-1259G>C (n.256-1259G>C) c.466G>C (p.Ala156Pro) n.847G>C c.577G>C (p.Ala193Pro) c.787G>C (p.Ala263Pro) | gnomAD v4 |
15 | g.74896280G>T | CA393176033 | MPI | c.799G>T (p.Ala267Ser) c.616G>T (p.Ala206Ser) c.649G>T (p.Ala217Ser) c.739G>T (p.Ala247Ser) c.256-1259G>T (n.256-1259G>T) c.466G>T (p.Ala156Ser) n.847G>T c.577G>T (p.Ala193Ser) c.787G>T (p.Ala263Ser) | |
15 | g.74896281C>A | CA393176034 | MPI | c.800C>A (p.Ala267Asp) c.617C>A (p.Ala206Asp) c.650C>A (p.Ala217Asp) c.740C>A (p.Ala247Asp) c.256-1258C>A (n.256-1258C>A) c.467C>A (p.Ala156Asp) n.848C>A c.578C>A (p.Ala193Asp) c.788C>A (p.Ala263Asp) | |
15 | g.74896281C>G | CA393176036 | MPI | c.800C>G (p.Ala267Gly) c.617C>G (p.Ala206Gly) c.650C>G (p.Ala217Gly) c.740C>G (p.Ala247Gly) c.256-1258C>G (n.256-1258C>G) c.467C>G (p.Ala156Gly) n.848C>G c.578C>G (p.Ala193Gly) c.788C>G (p.Ala263Gly) | |
15 | g.74896281C>T | CA393176035 | MPI | c.800C>T (p.Ala267Val) c.617C>T (p.Ala206Val) c.650C>T (p.Ala217Val) c.740C>T (p.Ala247Val) c.256-1258C>T (n.256-1258C>T) c.467C>T (p.Ala156Val) n.848C>T c.578C>T (p.Ala193Val) c.788C>T (p.Ala263Val) | gnomAD v4 |
15 | g.74896282C>A | CA491491438 | MPI | c.801C>A (p.Ala267=) c.618C>A (p.Ala206=) c.651C>A (p.Ala217=) c.741C>A (p.Ala247=) c.256-1257C>A (n.256-1257C>A) c.468C>A (p.Ala156=) n.849C>A c.579C>A (p.Ala193=) c.789C>A (p.Ala263=) | |
15 | g.74896282C>G | CA491491439 | MPI | c.801C>G (p.Ala267=) c.618C>G (p.Ala206=) c.651C>G (p.Ala217=) c.741C>G (p.Ala247=) c.256-1257C>G (n.256-1257C>G) c.468C>G (p.Ala156=) n.849C>G c.579C>G (p.Ala193=) c.789C>G (p.Ala263=) | |
15 | g.74896282C>T | CA491491440 | MPI | c.801C>T (p.Ala267=) c.618C>T (p.Ala206=) c.651C>T (p.Ala217=) c.741C>T (p.Ala247=) c.256-1257C>T (n.256-1257C>T) c.468C>T (p.Ala156=) n.849C>T c.579C>T (p.Ala193=) c.789C>T (p.Ala263=) | |
15 | g.74896282_74896284del | CA912992716 | MPI | c.801_803del (p.Met268del) c.618_620del (p.Met207del) c.651_653del (p.Met218del) c.741_743del (p.Met248del) c.256-1257_256-1255del (n.256-1257_256-1255del) c.468_470del (p.Met157del) n.849_851del c.579_581del (p.Met194del) c.789_791del (p.Met264del) | |
15 | g.74896282_74896284delinsCAT | CA2187901935 | MPI | c.801_803delinsCAT (p.Ala267=) c.618_620delinsCAT (p.Ala206=) c.651_653delinsCAT (p.Ala217=) c.741_743delinsCAT (p.Ala247=) c.256-1257_256-1255delinsCAT (n.256-1257_256-1255delinsCAT) c.468_470delinsCAT (p.Ala156=) n.849_851delinsCAT c.579_581delinsCAT (p.Ala193=) c.789_791delinsCAT (p.Ala263=) | |
15 | g.74896283A= | CA2187901942 | MPI | c.802A= (p.Met268=) c.619A= (p.Met207=) c.652A= (p.Met218=) c.742A= (p.Met248=) c.256-1256A= (n.256-1256A=) c.469A= (p.Met157=) n.850A= c.580A= (p.Met194=) c.790A= (p.Met264=) | |
15 | g.74896283A>C | CA393176037 | MPI | c.802A>C (p.Met268Leu) c.619A>C (p.Met207Leu) c.652A>C (p.Met218Leu) c.742A>C (p.Met248Leu) c.256-1256A>C (n.256-1256A>C) c.469A>C (p.Met157Leu) n.850A>C c.580A>C (p.Met194Leu) c.790A>C (p.Met264Leu) | |
15 | g.74896283A>G | CA7662544 | MPI | c.802A>G (p.Met268Val) c.619A>G (p.Met207Val) c.652A>G (p.Met218Val) c.742A>G (p.Met248Val) c.256-1256A>G (n.256-1256A>G) c.469A>G (p.Met157Val) n.850A>G c.580A>G (p.Met194Val) c.790A>G (p.Met264Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896283A>T | CA393176038 | MPI | c.802A>T (p.Met268Leu) c.619A>T (p.Met207Leu) c.652A>T (p.Met218Leu) c.742A>T (p.Met248Leu) c.256-1256A>T (n.256-1256A>T) c.469A>T (p.Met157Leu) n.850A>T c.580A>T (p.Met194Leu) c.790A>T (p.Met264Leu) | |
15 | g.74896283_74896284del | CA658824073 | MPI | c.802_803del (p.Met268ValfsTer?) c.619_620del (p.Met207ValfsTer?) c.652_653del (p.Met218ValfsTer?) c.742_743del (p.Met248ValfsTer15) c.256-1256_256-1255del (n.256-1256_256-1255del) c.802_803del (p.Met268ValfsTer15) c.742_743del (p.Met248ValfsTer?) c.469_470del (p.Met157ValfsTer15) n.850_851del c.580_581del (p.Met194ValfsTer?) c.790_791del (p.Met264ValfsTer?) | ClinVar dbSNP |
15 | g.74896284T>A | CA393176039 | MPI | c.803T>A (p.Met268Lys) c.620T>A (p.Met207Lys) c.653T>A (p.Met218Lys) c.743T>A (p.Met248Lys) c.256-1255T>A (n.256-1255T>A) c.470T>A (p.Met157Lys) n.851T>A c.581T>A (p.Met194Lys) c.791T>A (p.Met264Lys) | |
15 | g.74896284T>C | CA393176040 | MPI | c.803T>C (p.Met268Thr) c.620T>C (p.Met207Thr) c.653T>C (p.Met218Thr) c.743T>C (p.Met248Thr) c.256-1255T>C (n.256-1255T>C) c.470T>C (p.Met157Thr) n.851T>C c.581T>C (p.Met194Thr) c.791T>C (p.Met264Thr) | dbSNP gnomAD v4 |
15 | g.74896284T>G | CA393176041 | MPI | c.803T>G (p.Met268Arg) c.620T>G (p.Met207Arg) c.653T>G (p.Met218Arg) c.743T>G (p.Met248Arg) c.256-1255T>G (n.256-1255T>G) c.470T>G (p.Met157Arg) n.851T>G c.581T>G (p.Met194Arg) c.791T>G (p.Met264Arg) | |
15 | g.74896284T= | CA2187901946 | MPI | c.803T= (p.Met268=) c.620T= (p.Met207=) c.653T= (p.Met218=) c.743T= (p.Met248=) c.256-1255T= (n.256-1255T=) c.470T= (p.Met157=) n.851T= c.581T= (p.Met194=) c.791T= (p.Met264=) | |
15 | g.74896285G>A | CA393176042 | MPI | c.804G>A (p.Met268Ile) c.621G>A (p.Met207Ile) c.654G>A (p.Met218Ile) c.744G>A (p.Met248Ile) c.256-1254G>A (n.256-1254G>A) c.471G>A (p.Met157Ile) n.852G>A c.582G>A (p.Met194Ile) c.792G>A (p.Met264Ile) | |
15 | g.74896285G>C | CA393176043 | MPI | c.804G>C (p.Met268Ile) c.621G>C (p.Met207Ile) c.654G>C (p.Met218Ile) c.744G>C (p.Met248Ile) c.256-1254G>C (n.256-1254G>C) c.471G>C (p.Met157Ile) n.852G>C c.582G>C (p.Met194Ile) c.792G>C (p.Met264Ile) | |
15 | g.74896285G>T | CA393176044 | MPI | c.804G>T (p.Met268Ile) c.621G>T (p.Met207Ile) c.654G>T (p.Met218Ile) c.744G>T (p.Met248Ile) c.256-1254G>T (n.256-1254G>T) c.471G>T (p.Met157Ile) n.852G>T c.582G>T (p.Met194Ile) c.792G>T (p.Met264Ile) | |
15 | g.74896286T>A | CA393176046 | MPI | c.805T>A (p.Phe269Ile) c.622T>A (p.Phe208Ile) c.655T>A (p.Phe219Ile) c.745T>A (p.Phe249Ile) c.256-1253T>A (n.256-1253T>A) c.472T>A (p.Phe158Ile) n.853T>A c.583T>A (p.Phe195Ile) c.793T>A (p.Phe265Ile) | |
15 | g.74896286T>C | CA393176047 | MPI | c.805T>C (p.Phe269Leu) c.622T>C (p.Phe208Leu) c.655T>C (p.Phe219Leu) c.745T>C (p.Phe249Leu) c.256-1253T>C (n.256-1253T>C) c.472T>C (p.Phe158Leu) n.853T>C c.583T>C (p.Phe195Leu) c.793T>C (p.Phe265Leu) | |
15 | g.74896286T>G | CA393176045 | MPI | c.805T>G (p.Phe269Val) c.622T>G (p.Phe208Val) c.655T>G (p.Phe219Val) c.745T>G (p.Phe249Val) c.256-1253T>G (n.256-1253T>G) c.472T>G (p.Phe158Val) n.853T>G c.583T>G (p.Phe195Val) c.793T>G (p.Phe265Val) | |
15 | g.74896287T>A | CA393176048 | MPI | c.806T>A (p.Phe269Tyr) c.623T>A (p.Phe208Tyr) c.656T>A (p.Phe219Tyr) c.746T>A (p.Phe249Tyr) c.256-1252T>A (n.256-1252T>A) c.473T>A (p.Phe158Tyr) n.854T>A c.584T>A (p.Phe195Tyr) c.794T>A (p.Phe265Tyr) | |
15 | g.74896287T>C | CA393176049 | MPI | c.806T>C (p.Phe269Ser) c.623T>C (p.Phe208Ser) c.656T>C (p.Phe219Ser) c.746T>C (p.Phe249Ser) c.256-1252T>C (n.256-1252T>C) c.473T>C (p.Phe158Ser) n.854T>C c.584T>C (p.Phe195Ser) c.794T>C (p.Phe265Ser) | gnomAD v4 |
15 | g.74896287T>G | CA393176050 | MPI | c.806T>G (p.Phe269Cys) c.623T>G (p.Phe208Cys) c.656T>G (p.Phe219Cys) c.746T>G (p.Phe249Cys) c.256-1252T>G (n.256-1252T>G) c.473T>G (p.Phe158Cys) n.854T>G c.584T>G (p.Phe195Cys) c.794T>G (p.Phe265Cys) | |
15 | g.74896288T>A | CA393176051 | MPI | c.807T>A (p.Phe269Leu) c.624T>A (p.Phe208Leu) c.657T>A (p.Phe219Leu) c.747T>A (p.Phe249Leu) c.256-1251T>A (n.256-1251T>A) c.474T>A (p.Phe158Leu) n.855T>A c.585T>A (p.Phe195Leu) c.795T>A (p.Phe265Leu) | |
15 | g.74896288T>C | CA491491441 | MPI | c.807T>C (p.Phe269=) c.624T>C (p.Phe208=) c.657T>C (p.Phe219=) c.747T>C (p.Phe249=) c.256-1251T>C (n.256-1251T>C) c.474T>C (p.Phe158=) n.855T>C c.585T>C (p.Phe195=) c.795T>C (p.Phe265=) | |
15 | g.74896288T>G | CA393176052 | MPI | c.807T>G (p.Phe269Leu) c.624T>G (p.Phe208Leu) c.657T>G (p.Phe219Leu) c.747T>G (p.Phe249Leu) c.256-1251T>G (n.256-1251T>G) c.474T>G (p.Phe158Leu) n.855T>G c.585T>G (p.Phe195Leu) c.795T>G (p.Phe265Leu) | |
15 | g.74896289C>A | CA393176054 | MPI | c.808C>A (p.Leu270Met) c.625C>A (p.Leu209Met) c.658C>A (p.Leu220Met) c.748C>A (p.Leu250Met) c.256-1250C>A (n.256-1250C>A) c.475C>A (p.Leu159Met) n.856C>A c.586C>A (p.Leu196Met) c.796C>A (p.Leu266Met) | |
15 | g.74896289C>G | CA393176053 | MPI | c.808C>G (p.Leu270Val) c.625C>G (p.Leu209Val) c.658C>G (p.Leu220Val) c.748C>G (p.Leu250Val) c.256-1250C>G (n.256-1250C>G) c.475C>G (p.Leu159Val) n.856C>G c.586C>G (p.Leu196Val) c.796C>G (p.Leu266Val) | |
15 | g.74896289C>T | CA491491442 | MPI | c.808C>T (p.Leu270=) c.625C>T (p.Leu209=) c.658C>T (p.Leu220=) c.748C>T (p.Leu250=) c.256-1250C>T (n.256-1250C>T) c.475C>T (p.Leu159=) n.856C>T c.586C>T (p.Leu196=) c.796C>T (p.Leu266=) | |
15 | g.74896290T>A | CA393176055 | MPI | c.809T>A (p.Leu270Gln) c.626T>A (p.Leu209Gln) c.659T>A (p.Leu220Gln) c.749T>A (p.Leu250Gln) c.256-1249T>A (n.256-1249T>A) c.476T>A (p.Leu159Gln) n.857T>A c.587T>A (p.Leu196Gln) c.797T>A (p.Leu266Gln) | |
15 | g.74896290T>C | CA272825513 | MPI | c.809T>C (p.Leu270Pro) c.626T>C (p.Leu209Pro) c.659T>C (p.Leu220Pro) c.749T>C (p.Leu250Pro) c.256-1249T>C (n.256-1249T>C) c.476T>C (p.Leu159Pro) n.857T>C c.587T>C (p.Leu196Pro) c.797T>C (p.Leu266Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896290T>G | CA393176056 | MPI | c.809T>G (p.Leu270Arg) c.626T>G (p.Leu209Arg) c.659T>G (p.Leu220Arg) c.749T>G (p.Leu250Arg) c.256-1249T>G (n.256-1249T>G) c.476T>G (p.Leu159Arg) n.857T>G c.587T>G (p.Leu196Arg) c.797T>G (p.Leu266Arg) | |
15 | g.74896290T= | CA2187901949 | MPI | c.809T= (p.Leu270=) c.626T= (p.Leu209=) c.659T= (p.Leu220=) c.749T= (p.Leu250=) c.256-1249T= (n.256-1249T=) c.476T= (p.Leu159=) n.857T= c.587T= (p.Leu196=) c.797T= (p.Leu266=) | |
15 | g.74896291G>A | CA491491443 | MPI | c.810G>A (p.Leu270=) c.627G>A (p.Leu209=) c.660G>A (p.Leu220=) c.750G>A (p.Leu250=) c.256-1248G>A (n.256-1248G>A) c.477G>A (p.Leu159=) n.858G>A c.588G>A (p.Leu196=) c.798G>A (p.Leu266=) | ClinVar |
15 | g.74896291G>C | CA491491444 | MPI | c.810G>C (p.Leu270=) c.627G>C (p.Leu209=) c.660G>C (p.Leu220=) c.750G>C (p.Leu250=) c.256-1248G>C (n.256-1248G>C) c.477G>C (p.Leu159=) n.858G>C c.588G>C (p.Leu196=) c.798G>C (p.Leu266=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896291G>T | CA491491445 | MPI | c.810G>T (p.Leu270=) c.627G>T (p.Leu209=) c.660G>T (p.Leu220=) c.750G>T (p.Leu250=) c.256-1248G>T (n.256-1248G>T) c.477G>T (p.Leu159=) n.858G>T c.588G>T (p.Leu196=) c.798G>T (p.Leu266=) | |
15 | g.74896292del | CA2629530697 | MPI | c.811del (p.Glu271ArgfsTer9) c.628del (p.Glu210ArgfsTer9) c.661del (p.Glu221ArgfsTer9) c.751del (p.Glu251ArgfsTer9) c.256-1247del (n.256-1247del) c.478del (p.Glu160ArgfsTer9) n.859del c.589del (p.Glu197ArgfsTer9) c.799del (p.Glu267ArgfsTer9) | gnomAD v4 |
15 | g.74896292G>A | CA393176057 | MPI | c.811G>A (p.Glu271Lys) c.628G>A (p.Glu210Lys) c.661G>A (p.Glu221Lys) c.751G>A (p.Glu251Lys) c.256-1247G>A (n.256-1247G>A) c.478G>A (p.Glu160Lys) n.859G>A c.589G>A (p.Glu197Lys) c.799G>A (p.Glu267Lys) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896292G>C | CA393176058 | MPI | c.811G>C (p.Glu271Gln) c.628G>C (p.Glu210Gln) c.661G>C (p.Glu221Gln) c.751G>C (p.Glu251Gln) c.256-1247G>C (n.256-1247G>C) c.478G>C (p.Glu160Gln) n.859G>C c.589G>C (p.Glu197Gln) c.799G>C (p.Glu267Gln) | |
15 | g.74896292G= | CA2187901954 | MPI | c.811G= (p.Glu271=) c.628G= (p.Glu210=) c.661G= (p.Glu221=) c.751G= (p.Glu251=) c.256-1247G= (n.256-1247G=) c.478G= (p.Glu160=) n.859G= c.589G= (p.Glu197=) c.799G= (p.Glu267=) | |
15 | g.74896292G>T | CA393176059 | MPI | c.811G>T (p.Glu271Ter) c.628G>T (p.Glu210Ter) c.661G>T (p.Glu221Ter) c.751G>T (p.Glu251Ter) c.256-1247G>T (n.256-1247G>T) c.478G>T (p.Glu160Ter) n.859G>T c.589G>T (p.Glu197Ter) c.799G>T (p.Glu267Ter) | |
15 | g.74896293A>C | CA393176060 | MPI | c.812A>C (p.Glu271Ala) c.629A>C (p.Glu210Ala) c.662A>C (p.Glu221Ala) c.752A>C (p.Glu251Ala) c.256-1246A>C (n.256-1246A>C) c.479A>C (p.Glu160Ala) n.860A>C c.590A>C (p.Glu197Ala) c.800A>C (p.Glu267Ala) | |
15 | g.74896293A>G | CA393176062 | MPI | c.812A>G (p.Glu271Gly) c.629A>G (p.Glu210Gly) c.662A>G (p.Glu221Gly) c.752A>G (p.Glu251Gly) c.256-1246A>G (n.256-1246A>G) c.479A>G (p.Glu160Gly) n.860A>G c.590A>G (p.Glu197Gly) c.800A>G (p.Glu267Gly) | |
15 | g.74896293A>T | CA393176061 | MPI | c.812A>T (p.Glu271Val) c.629A>T (p.Glu210Val) c.662A>T (p.Glu221Val) c.752A>T (p.Glu251Val) c.256-1246A>T (n.256-1246A>T) c.479A>T (p.Glu160Val) n.860A>T c.590A>T (p.Glu197Val) c.800A>T (p.Glu267Val) | |
15 | g.74896294G>A | CA491491446 | MPI | c.813G>A (p.Glu271=) c.630G>A (p.Glu210=) c.663G>A (p.Glu221=) c.753G>A (p.Glu251=) c.256-1245G>A (n.256-1245G>A) c.480G>A (p.Glu160=) n.861G>A c.591G>A (p.Glu197=) c.801G>A (p.Glu267=) | |
15 | g.74896294G>C | CA393176063 | MPI | c.813G>C (p.Glu271Asp) c.630G>C (p.Glu210Asp) c.663G>C (p.Glu221Asp) c.753G>C (p.Glu251Asp) c.256-1245G>C (n.256-1245G>C) c.480G>C (p.Glu160Asp) n.861G>C c.591G>C (p.Glu197Asp) c.801G>C (p.Glu267Asp) | gnomAD v4 |
15 | g.74896294G>T | CA393176064 | MPI | c.813G>T (p.Glu271Asp) c.630G>T (p.Glu210Asp) c.663G>T (p.Glu221Asp) c.753G>T (p.Glu251Asp) c.256-1245G>T (n.256-1245G>T) c.480G>T (p.Glu160Asp) n.861G>T c.591G>T (p.Glu197Asp) c.801G>T (p.Glu267Asp) | |
15 | g.74896295G>A | CA393176065 | MPI | c.814G>A (p.Ala272Thr) c.631G>A (p.Ala211Thr) c.664G>A (p.Ala222Thr) c.754G>A (p.Ala252Thr) c.256-1244G>A (n.256-1244G>A) c.481G>A (p.Ala161Thr) n.862G>A c.592G>A (p.Ala198Thr) c.802G>A (p.Ala268Thr) | |
15 | g.74896295G>C | CA393176066 | MPI | c.814G>C (p.Ala272Pro) c.631G>C (p.Ala211Pro) c.664G>C (p.Ala222Pro) c.754G>C (p.Ala252Pro) c.256-1244G>C (n.256-1244G>C) c.481G>C (p.Ala161Pro) n.862G>C c.592G>C (p.Ala198Pro) c.802G>C (p.Ala268Pro) | |
15 | g.74896295G>T | CA393176067 | MPI | c.814G>T (p.Ala272Ser) c.631G>T (p.Ala211Ser) c.664G>T (p.Ala222Ser) c.754G>T (p.Ala252Ser) c.256-1244G>T (n.256-1244G>T) c.481G>T (p.Ala161Ser) n.862G>T c.592G>T (p.Ala198Ser) c.802G>T (p.Ala268Ser) | |
15 | g.74896296C>A | CA393176068 | MPI | c.815C>A (p.Ala272Asp) c.632C>A (p.Ala211Asp) c.665C>A (p.Ala222Asp) c.755C>A (p.Ala252Asp) c.256-1243C>A (n.256-1243C>A) c.482C>A (p.Ala161Asp) n.863C>A c.593C>A (p.Ala198Asp) c.803C>A (p.Ala268Asp) | |
15 | g.74896296C= | CA2187901959 | MPI | c.815C= (p.Ala272=) c.632C= (p.Ala211=) c.665C= (p.Ala222=) c.755C= (p.Ala252=) c.256-1243C= (n.256-1243C=) c.482C= (p.Ala161=) n.863C= c.593C= (p.Ala198=) c.803C= (p.Ala268=) | |
15 | g.74896296C>G | CA393176069 | MPI | c.815C>G (p.Ala272Gly) c.632C>G (p.Ala211Gly) c.665C>G (p.Ala222Gly) c.755C>G (p.Ala252Gly) c.256-1243C>G (n.256-1243C>G) c.482C>G (p.Ala161Gly) n.863C>G c.593C>G (p.Ala198Gly) c.803C>G (p.Ala268Gly) | |
15 | g.74896296C>T | CA7662545 | MPI | c.815C>T (p.Ala272Val) c.632C>T (p.Ala211Val) c.665C>T (p.Ala222Val) c.755C>T (p.Ala252Val) c.256-1243C>T (n.256-1243C>T) c.482C>T (p.Ala161Val) n.863C>T c.593C>T (p.Ala198Val) c.803C>T (p.Ala268Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896297C>A | CA491491447 | MPI | c.816C>A (p.Ala272=) c.633C>A (p.Ala211=) c.666C>A (p.Ala222=) c.756C>A (p.Ala252=) c.256-1242C>A (n.256-1242C>A) c.483C>A (p.Ala161=) n.864C>A c.594C>A (p.Ala198=) c.804C>A (p.Ala268=) | |
15 | g.74896297C= | CA2187901962 | MPI | c.816C= (p.Ala272=) c.633C= (p.Ala211=) c.666C= (p.Ala222=) c.756C= (p.Ala252=) c.256-1242C= (n.256-1242C=) c.483C= (p.Ala161=) n.864C= c.594C= (p.Ala198=) c.804C= (p.Ala268=) | |
15 | g.74896297C>G | CA491491448 | MPI | c.816C>G (p.Ala272=) c.633C>G (p.Ala211=) c.666C>G (p.Ala222=) c.756C>G (p.Ala252=) c.256-1242C>G (n.256-1242C>G) c.483C>G (p.Ala161=) n.864C>G c.594C>G (p.Ala198=) c.804C>G (p.Ala268=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896297C>T | CA491491449 | MPI | c.816C>T (p.Ala272=) c.633C>T (p.Ala211=) c.666C>T (p.Ala222=) c.756C>T (p.Ala252=) c.256-1242C>T (n.256-1242C>T) c.483C>T (p.Ala161=) n.864C>T c.594C>T (p.Ala198=) c.804C>T (p.Ala268=) | |
15 | g.74896298A>C | CA393176070 | MPI | c.817A>C (p.Asn273His) c.634A>C (p.Asn212His) c.667A>C (p.Asn223His) c.757A>C (p.Asn253His) c.256-1241A>C (n.256-1241A>C) c.484A>C (p.Asn162His) n.865A>C c.595A>C (p.Asn199His) c.805A>C (p.Asn269His) | |
15 | g.74896298A>G | CA393176071 | MPI | c.817A>G (p.Asn273Asp) c.634A>G (p.Asn212Asp) c.667A>G (p.Asn223Asp) c.757A>G (p.Asn253Asp) c.256-1241A>G (n.256-1241A>G) c.484A>G (p.Asn162Asp) n.865A>G c.595A>G (p.Asn199Asp) c.805A>G (p.Asn269Asp) | |
15 | g.74896298A>T | CA393176072 | MPI | c.817A>T (p.Asn273Tyr) c.634A>T (p.Asn212Tyr) c.667A>T (p.Asn223Tyr) c.757A>T (p.Asn253Tyr) c.256-1241A>T (n.256-1241A>T) c.484A>T (p.Asn162Tyr) n.865A>T c.595A>T (p.Asn199Tyr) c.805A>T (p.Asn269Tyr) | |
15 | g.74896299A= | CA2187901969 | MPI | c.818A= (p.Asn273=) c.635A= (p.Asn212=) c.668A= (p.Asn223=) c.758A= (p.Asn253=) c.256-1240A= (n.256-1240A=) c.485A= (p.Asn162=) n.866A= c.596A= (p.Asn199=) c.806A= (p.Asn269=) | |
15 | g.74896299A>C | CA393176074 | MPI | c.818A>C (p.Asn273Thr) c.635A>C (p.Asn212Thr) c.668A>C (p.Asn223Thr) c.758A>C (p.Asn253Thr) c.256-1240A>C (n.256-1240A>C) c.485A>C (p.Asn162Thr) n.866A>C c.596A>C (p.Asn199Thr) c.806A>C (p.Asn269Thr) | |
15 | g.74896299A>G | CA7662546 | MPI | c.818A>G (p.Asn273Ser) c.635A>G (p.Asn212Ser) c.668A>G (p.Asn223Ser) c.758A>G (p.Asn253Ser) c.256-1240A>G (n.256-1240A>G) c.485A>G (p.Asn162Ser) n.866A>G c.596A>G (p.Asn199Ser) c.806A>G (p.Asn269Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896299A>T | CA393176073 | MPI | c.818A>T (p.Asn273Ile) c.635A>T (p.Asn212Ile) c.668A>T (p.Asn223Ile) c.758A>T (p.Asn253Ile) c.256-1240A>T (n.256-1240A>T) c.485A>T (p.Asn162Ile) n.866A>T c.596A>T (p.Asn199Ile) c.806A>T (p.Asn269Ile) | |
15 | g.74896299delinsTC | CA2695197320 | MPI | c.818delinsTC (p.Asn273IlefsTer?) c.635delinsTC (p.Asn212IlefsTer?) c.668delinsTC (p.Asn223IlefsTer?) c.758delinsTC (p.Asn253IlefsTer11) c.256-1240delinsTC (n.256-1240delinsTC) c.818delinsTC (p.Asn273IlefsTer11) c.758delinsTC (p.Asn253IlefsTer?) c.485delinsTC (p.Asn162IlefsTer11) c.818delinsTC (p.Asn273IlefsTer30) n.866delinsTC c.596delinsTC (p.Asn199IlefsTer30) c.806delinsTC (p.Asn269IlefsTer?) c.758delinsTC (p.Asn253IlefsTer30) c.668delinsTC (p.Asn223IlefsTer30) | ClinVar |
15 | g.74896300C>A | CA393176075 | MPI | c.819C>A (p.Asn273Lys) c.636C>A (p.Asn212Lys) c.669C>A (p.Asn223Lys) c.759C>A (p.Asn253Lys) c.256-1239C>A (n.256-1239C>A) c.486C>A (p.Asn162Lys) n.867C>A c.597C>A (p.Asn199Lys) c.807C>A (p.Asn269Lys) | |
15 | g.74896300C= | CA2187901973 | MPI | c.819C= (p.Asn273=) c.636C= (p.Asn212=) c.669C= (p.Asn223=) c.759C= (p.Asn253=) c.256-1239C= (n.256-1239C=) c.486C= (p.Asn162=) n.867C= c.597C= (p.Asn199=) c.807C= (p.Asn269=) | |
15 | g.74896300C>G | CA272825526 | MPI | c.819C>G (p.Asn273Lys) c.636C>G (p.Asn212Lys) c.669C>G (p.Asn223Lys) c.759C>G (p.Asn253Lys) c.256-1239C>G (n.256-1239C>G) c.486C>G (p.Asn162Lys) n.867C>G c.597C>G (p.Asn199Lys) c.807C>G (p.Asn269Lys) | dbSNP gnomAD v4 |
15 | g.74896300C>T | CA7662547 | MPI | c.819C>T (p.Asn273=) c.636C>T (p.Asn212=) c.669C>T (p.Asn223=) c.759C>T (p.Asn253=) c.256-1239C>T (n.256-1239C>T) c.486C>T (p.Asn162=) n.867C>T c.597C>T (p.Asn199=) c.807C>T (p.Asn269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896301G>A | CA7662548 | MPI | c.820G>A (p.Val274Ile) c.637G>A (p.Val213Ile) c.670G>A (p.Val224Ile) c.760G>A (p.Val254Ile) c.256-1238G>A (n.256-1238G>A) c.487G>A (p.Val163Ile) n.868G>A c.598G>A (p.Val200Ile) c.808G>A (p.Val270Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896301G>C | CA393176076 | MPI | c.820G>C (p.Val274Leu) c.637G>C (p.Val213Leu) c.670G>C (p.Val224Leu) c.760G>C (p.Val254Leu) c.256-1238G>C (n.256-1238G>C) c.487G>C (p.Val163Leu) n.868G>C c.598G>C (p.Val200Leu) c.808G>C (p.Val270Leu) | |
15 | g.74896301G= | CA2187901981 | MPI | c.820G= (p.Val274=) c.637G= (p.Val213=) c.670G= (p.Val224=) c.760G= (p.Val254=) c.256-1238G= (n.256-1238G=) c.487G= (p.Val163=) n.868G= c.598G= (p.Val200=) c.808G= (p.Val270=) | |
15 | g.74896301G>T | CA393176077 | MPI | c.820G>T (p.Val274Leu) c.637G>T (p.Val213Leu) c.670G>T (p.Val224Leu) c.760G>T (p.Val254Leu) c.256-1238G>T (n.256-1238G>T) c.487G>T (p.Val163Leu) n.868G>T c.598G>T (p.Val200Leu) c.808G>T (p.Val270Leu) | gnomAD v4 |
15 | g.74896301dup | CA619413158 | MPI | c.820dup (p.Val274GlyfsTer?) c.637dup (p.Val213GlyfsTer?) c.670dup (p.Val224GlyfsTer?) c.760dup (p.Val254GlyfsTer10) c.256-1238dup (n.256-1238dup) c.820dup (p.Val274GlyfsTer10) c.760dup (p.Val254GlyfsTer?) c.487dup (p.Val163GlyfsTer10) c.820dup (p.Val274GlyfsTer29) n.868dup c.598dup (p.Val200GlyfsTer29) c.808dup (p.Val270GlyfsTer?) c.760dup (p.Val254GlyfsTer29) c.670dup (p.Val224GlyfsTer29) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896302T>A | CA393176080 | MPI | c.821T>A (p.Val274Glu) c.638T>A (p.Val213Glu) c.671T>A (p.Val224Glu) c.761T>A (p.Val254Glu) c.256-1237T>A (n.256-1237T>A) c.488T>A (p.Val163Glu) n.869T>A c.599T>A (p.Val200Glu) c.809T>A (p.Val270Glu) | |
15 | g.74896302T>C | CA393176079 | MPI | c.821T>C (p.Val274Ala) c.638T>C (p.Val213Ala) c.671T>C (p.Val224Ala) c.761T>C (p.Val254Ala) c.256-1237T>C (n.256-1237T>C) c.488T>C (p.Val163Ala) n.869T>C c.599T>C (p.Val200Ala) c.809T>C (p.Val270Ala) | |
15 | g.74896302T>G | CA393176078 | MPI | c.821T>G (p.Val274Gly) c.638T>G (p.Val213Gly) c.671T>G (p.Val224Gly) c.761T>G (p.Val254Gly) c.256-1237T>G (n.256-1237T>G) c.488T>G (p.Val163Gly) n.869T>G c.599T>G (p.Val200Gly) c.809T>G (p.Val270Gly) | |
15 | g.74896303A>C | CA491491450 | MPI | c.822A>C (p.Val274=) c.639A>C (p.Val213=) c.672A>C (p.Val224=) c.762A>C (p.Val254=) c.256-1236A>C (n.256-1236A>C) c.489A>C (p.Val163=) n.870A>C c.600A>C (p.Val200=) c.810A>C (p.Val270=) | |
15 | g.74896303A>G | CA491491451 | MPI | c.822A>G (p.Val274=) c.639A>G (p.Val213=) c.672A>G (p.Val224=) c.762A>G (p.Val254=) c.256-1236A>G (n.256-1236A>G) c.489A>G (p.Val163=) n.870A>G c.600A>G (p.Val200=) c.810A>G (p.Val270=) | |
15 | g.74896303A>T | CA491491452 | MPI | c.822A>T (p.Val274=) c.639A>T (p.Val213=) c.672A>T (p.Val224=) c.762A>T (p.Val254=) c.256-1236A>T (n.256-1236A>T) c.489A>T (p.Val163=) n.870A>T c.600A>T (p.Val200=) c.810A>T (p.Val270=) | |
15 | g.74896303_74896304dup | CA2629530728 | MPI | c.822_823dup (p.Pro275HisfsTer6) c.639_640dup (p.Pro214HisfsTer6) c.672_673dup (p.Pro225HisfsTer6) c.762_763dup (p.Pro255HisfsTer6) c.256-1236_256-1235dup (n.256-1236_256-1235dup) c.489_490dup (p.Pro164HisfsTer6) n.870_871dup c.600_601dup (p.Pro201HisfsTer6) c.810_811dup (p.Pro271HisfsTer6) | gnomAD v4 |
15 | g.74896304C>A | CA393176081 | MPI | c.823C>A (p.Pro275Thr) c.640C>A (p.Pro214Thr) c.673C>A (p.Pro225Thr) c.763C>A (p.Pro255Thr) c.256-1235C>A (n.256-1235C>A) c.490C>A (p.Pro164Thr) n.871C>A c.601C>A (p.Pro201Thr) c.811C>A (p.Pro271Thr) | |
15 | g.74896304C= | CA2187901984 | MPI | c.823C= (p.Pro275=) c.640C= (p.Pro214=) c.673C= (p.Pro225=) c.763C= (p.Pro255=) c.256-1235C= (n.256-1235C=) c.490C= (p.Pro164=) n.871C= c.601C= (p.Pro201=) c.811C= (p.Pro271=) | |
15 | g.74896304C>G | CA393176082 | MPI | c.823C>G (p.Pro275Ala) c.640C>G (p.Pro214Ala) c.673C>G (p.Pro225Ala) c.763C>G (p.Pro255Ala) c.256-1235C>G (n.256-1235C>G) c.490C>G (p.Pro164Ala) n.871C>G c.601C>G (p.Pro201Ala) c.811C>G (p.Pro271Ala) | |
15 | g.74896304C>T | CA7662549 | MPI | c.823C>T (p.Pro275Ser) c.640C>T (p.Pro214Ser) c.673C>T (p.Pro225Ser) c.763C>T (p.Pro255Ser) c.256-1235C>T (n.256-1235C>T) c.490C>T (p.Pro164Ser) n.871C>T c.601C>T (p.Pro201Ser) c.811C>T (p.Pro271Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896305C>A | CA393176083 | MPI | c.824C>A (p.Pro275His) c.641C>A (p.Pro214His) c.674C>A (p.Pro225His) c.764C>A (p.Pro255His) c.256-1234C>A (n.256-1234C>A) c.491C>A (p.Pro164His) n.872C>A c.602C>A (p.Pro201His) c.812C>A (p.Pro271His) | |
15 | g.74896305C>G | CA393176084 | MPI | c.824C>G (p.Pro275Arg) c.641C>G (p.Pro214Arg) c.674C>G (p.Pro225Arg) c.764C>G (p.Pro255Arg) c.256-1234C>G (n.256-1234C>G) c.491C>G (p.Pro164Arg) n.872C>G c.602C>G (p.Pro201Arg) c.812C>G (p.Pro271Arg) | |
15 | g.74896305C>T | CA393176085 | MPI | c.824C>T (p.Pro275Leu) c.641C>T (p.Pro214Leu) c.674C>T (p.Pro225Leu) c.764C>T (p.Pro255Leu) c.256-1234C>T (n.256-1234C>T) c.491C>T (p.Pro164Leu) n.872C>T c.602C>T (p.Pro201Leu) c.812C>T (p.Pro271Leu) | gnomAD v4 |
15 | g.74896306C>A | CA491491453 | MPI | c.825C>A (p.Pro275=) c.642C>A (p.Pro214=) c.675C>A (p.Pro225=) c.765C>A (p.Pro255=) c.256-1233C>A (n.256-1233C>A) c.492C>A (p.Pro164=) n.873C>A c.603C>A (p.Pro201=) c.813C>A (p.Pro271=) | |
15 | g.74896306C>G | CA491491454 | MPI | c.825C>G (p.Pro275=) c.642C>G (p.Pro214=) c.675C>G (p.Pro225=) c.765C>G (p.Pro255=) c.256-1233C>G (n.256-1233C>G) c.492C>G (p.Pro164=) n.873C>G c.603C>G (p.Pro201=) c.813C>G (p.Pro271=) | |
15 | g.74896306C>T | CA491491455 | MPI | c.825C>T (p.Pro275=) c.642C>T (p.Pro214=) c.675C>T (p.Pro225=) c.765C>T (p.Pro255=) c.256-1233C>T (n.256-1233C>T) c.492C>T (p.Pro164=) n.873C>T c.603C>T (p.Pro201=) c.813C>T (p.Pro271=) | gnomAD v4 |
15 | g.74896307C>A | CA393176086 | MPI | c.826C>A (p.His276Asn) c.643C>A (p.His215Asn) c.676C>A (p.His226Asn) c.766C>A (p.His256Asn) c.256-1232C>A (n.256-1232C>A) c.493C>A (p.His165Asn) n.874C>A c.604C>A (p.His202Asn) c.814C>A (p.His272Asn) | |
15 | g.74896307C>G | CA393176088 | MPI | c.826C>G (p.His276Asp) c.643C>G (p.His215Asp) c.676C>G (p.His226Asp) c.766C>G (p.His256Asp) c.256-1232C>G (n.256-1232C>G) c.493C>G (p.His165Asp) n.874C>G c.604C>G (p.His202Asp) c.814C>G (p.His272Asp) | |
15 | g.74896307C>T | CA393176087 | MPI | c.826C>T (p.His276Tyr) c.643C>T (p.His215Tyr) c.676C>T (p.His226Tyr) c.766C>T (p.His256Tyr) c.256-1232C>T (n.256-1232C>T) c.493C>T (p.His165Tyr) n.874C>T c.604C>T (p.His202Tyr) c.814C>T (p.His272Tyr) | |
15 | g.74896308A>C | CA393176089 | MPI | c.827A>C (p.His276Pro) c.644A>C (p.His215Pro) c.677A>C (p.His226Pro) c.767A>C (p.His256Pro) c.256-1231A>C (n.256-1231A>C) c.494A>C (p.His165Pro) n.875A>C c.605A>C (p.His202Pro) c.815A>C (p.His272Pro) | |
15 | g.74896308A>G | CA393176090 | MPI | c.827A>G (p.His276Arg) c.644A>G (p.His215Arg) c.677A>G (p.His226Arg) c.767A>G (p.His256Arg) c.256-1231A>G (n.256-1231A>G) c.494A>G (p.His165Arg) n.875A>G c.605A>G (p.His202Arg) c.815A>G (p.His272Arg) | |
15 | g.74896308A>T | CA393176091 | MPI | c.827A>T (p.His276Leu) c.644A>T (p.His215Leu) c.677A>T (p.His226Leu) c.767A>T (p.His256Leu) c.256-1231A>T (n.256-1231A>T) c.494A>T (p.His165Leu) n.875A>T c.605A>T (p.His202Leu) c.815A>T (p.His272Leu) | |
15 | g.74896309T>A | CA393176092 | MPI | c.828T>A (p.His276Gln) c.645T>A (p.His215Gln) c.678T>A (p.His226Gln) c.768T>A (p.His256Gln) c.256-1230T>A (n.256-1230T>A) c.495T>A (p.His165Gln) n.876T>A c.606T>A (p.His202Gln) c.816T>A (p.His272Gln) | |
15 | g.74896309T>C | CA491491459 | MPI | c.828T>C (p.His276=) c.645T>C (p.His215=) c.678T>C (p.His226=) c.768T>C (p.His256=) c.256-1230T>C (n.256-1230T>C) c.495T>C (p.His165=) n.876T>C c.606T>C (p.His202=) c.816T>C (p.His272=) | |
15 | g.74896309T>G | CA393176093 | MPI | c.828T>G (p.His276Gln) c.645T>G (p.His215Gln) c.678T>G (p.His226Gln) c.768T>G (p.His256Gln) c.256-1230T>G (n.256-1230T>G) c.495T>G (p.His165Gln) n.876T>G c.606T>G (p.His202Gln) c.816T>G (p.His272Gln) | |
15 | g.74896310G>A | CA7662550 | MPI | c.829G>A (p.Ala277Thr) c.646G>A (p.Ala216Thr) c.679G>A (p.Ala227Thr) c.769G>A (p.Ala257Thr) c.256-1229G>A (n.256-1229G>A) c.496G>A (p.Ala166Thr) n.877G>A c.607G>A (p.Ala203Thr) c.817G>A (p.Ala273Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896310G>C | CA393176094 | MPI | c.829G>C (p.Ala277Pro) c.646G>C (p.Ala216Pro) c.679G>C (p.Ala227Pro) c.769G>C (p.Ala257Pro) c.256-1229G>C (n.256-1229G>C) c.496G>C (p.Ala166Pro) n.877G>C c.607G>C (p.Ala203Pro) c.817G>C (p.Ala273Pro) | |
15 | g.74896310G= | CA2187901987 | MPI | c.829G= (p.Ala277=) c.646G= (p.Ala216=) c.679G= (p.Ala227=) c.769G= (p.Ala257=) c.256-1229G= (n.256-1229G=) c.496G= (p.Ala166=) n.877G= c.607G= (p.Ala203=) c.817G= (p.Ala273=) | |
15 | g.74896310G>T | CA393176095 | MPI | c.829G>T (p.Ala277Ser) c.646G>T (p.Ala216Ser) c.679G>T (p.Ala227Ser) c.769G>T (p.Ala257Ser) c.256-1229G>T (n.256-1229G>T) c.496G>T (p.Ala166Ser) n.877G>T c.607G>T (p.Ala203Ser) c.817G>T (p.Ala273Ser) | |
15 | g.74896310_74896312delinsGCC | CA2187901989 | MPI | c.829_831delinsGCC (p.Ala277=) c.646_648delinsGCC (p.Ala216=) c.679_681delinsGCC (p.Ala227=) c.769_771delinsGCC (p.Ala257=) c.256-1229_256-1227delinsGCC (n.256-1229_256-1227delinsGCC) c.496_498delinsGCC (p.Ala166=) n.877_879delinsGCC c.607_609delinsGCC (p.Ala203=) c.817_819delinsGCC (p.Ala273=) | |
15 | g.74896311C>A | CA393176096 | MPI | c.830C>A (p.Ala277Asp) c.647C>A (p.Ala216Asp) c.680C>A (p.Ala227Asp) c.770C>A (p.Ala257Asp) c.256-1228C>A (n.256-1228C>A) c.497C>A (p.Ala166Asp) n.878C>A c.608C>A (p.Ala203Asp) c.818C>A (p.Ala273Asp) | |
15 | g.74896311C>G | CA393176097 | MPI | c.830C>G (p.Ala277Gly) c.647C>G (p.Ala216Gly) c.680C>G (p.Ala227Gly) c.770C>G (p.Ala257Gly) c.256-1228C>G (n.256-1228C>G) c.497C>G (p.Ala166Gly) n.878C>G c.608C>G (p.Ala203Gly) c.818C>G (p.Ala273Gly) | |
15 | g.74896311C>T | CA393176098 | MPI | c.830C>T (p.Ala277Val) c.647C>T (p.Ala216Val) c.680C>T (p.Ala227Val) c.770C>T (p.Ala257Val) c.256-1228C>T (n.256-1228C>T) c.497C>T (p.Ala166Val) n.878C>T c.608C>T (p.Ala203Val) c.818C>T (p.Ala273Val) | |
15 | g.74896311_74896312del | CA619413159 | MPI | c.830_831del (p.Ala277ValfsTer27) c.647_648del (p.Ala216ValfsTer27) c.680_681del (p.Ala227ValfsTer27) c.770_771del (p.Ala257ValfsTer6) c.256-1228_256-1227del (n.256-1228_256-1227del) c.830_831del (p.Ala277ValfsTer6) c.770_771del (p.Ala257ValfsTer27) c.497_498del (p.Ala166ValfsTer6) c.830_831del (p.Ala277ValfsTer25) n.878_879del c.608_609del (p.Ala203ValfsTer25) c.818_819del (p.Ala273ValfsTer27) c.770_771del (p.Ala257ValfsTer25) c.680_681del (p.Ala227ValfsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896312C>A | CA491491461 | MPI | c.831C>A (p.Ala277=) c.648C>A (p.Ala216=) c.681C>A (p.Ala227=) c.771C>A (p.Ala257=) c.256-1227C>A (n.256-1227C>A) c.498C>A (p.Ala166=) n.879C>A c.609C>A (p.Ala203=) c.819C>A (p.Ala273=) | |
15 | g.74896312C>G | CA491491462 | MPI | c.831C>G (p.Ala277=) c.648C>G (p.Ala216=) c.681C>G (p.Ala227=) c.771C>G (p.Ala257=) c.256-1227C>G (n.256-1227C>G) c.498C>G (p.Ala166=) n.879C>G c.609C>G (p.Ala203=) c.819C>G (p.Ala273=) | gnomAD v4 |
15 | g.74896312C>T | CA491491463 | MPI | c.831C>T (p.Ala277=) c.648C>T (p.Ala216=) c.681C>T (p.Ala227=) c.771C>T (p.Ala257=) c.256-1227C>T (n.256-1227C>T) c.498C>T (p.Ala166=) n.879C>T c.609C>T (p.Ala203=) c.819C>T (p.Ala273=) | |
15 | g.74896313T>A | CA393176099 | MPI | c.832T>A (p.Tyr278Asn) c.649T>A (p.Tyr217Asn) c.682T>A (p.Tyr228Asn) c.772T>A (p.Tyr258Asn) c.256-1226T>A (n.256-1226T>A) c.499T>A (p.Tyr167Asn) n.880T>A c.610T>A (p.Tyr204Asn) c.820T>A (p.Tyr274Asn) | |
15 | g.74896313T>C | CA393176101 | MPI | c.832T>C (p.Tyr278His) c.649T>C (p.Tyr217His) c.682T>C (p.Tyr228His) c.772T>C (p.Tyr258His) c.256-1226T>C (n.256-1226T>C) c.499T>C (p.Tyr167His) n.880T>C c.610T>C (p.Tyr204His) c.820T>C (p.Tyr274His) | |
15 | g.74896313T>G | CA393176100 | MPI | c.832T>G (p.Tyr278Asp) c.649T>G (p.Tyr217Asp) c.682T>G (p.Tyr228Asp) c.772T>G (p.Tyr258Asp) c.256-1226T>G (n.256-1226T>G) c.499T>G (p.Tyr167Asp) n.880T>G c.610T>G (p.Tyr204Asp) c.820T>G (p.Tyr274Asp) | |
15 | g.74896314A= | CA2187901994 | MPI | c.833A= (p.Tyr278=) c.650A= (p.Tyr217=) c.683A= (p.Tyr228=) c.773A= (p.Tyr258=) c.256-1225A= (n.256-1225A=) c.500A= (p.Tyr167=) n.881A= c.611A= (p.Tyr204=) c.821A= (p.Tyr274=) | |
15 | g.74896314A>C | CA393176102 | MPI | c.833A>C (p.Tyr278Ser) c.650A>C (p.Tyr217Ser) c.683A>C (p.Tyr228Ser) c.773A>C (p.Tyr258Ser) c.256-1225A>C (n.256-1225A>C) c.500A>C (p.Tyr167Ser) n.881A>C c.611A>C (p.Tyr204Ser) c.821A>C (p.Tyr274Ser) | |
15 | g.74896314A>G | CA393176103 | MPI | c.833A>G (p.Tyr278Cys) c.650A>G (p.Tyr217Cys) c.683A>G (p.Tyr228Cys) c.773A>G (p.Tyr258Cys) c.256-1225A>G (n.256-1225A>G) c.500A>G (p.Tyr167Cys) n.881A>G c.611A>G (p.Tyr204Cys) c.821A>G (p.Tyr274Cys) | |
15 | g.74896314A>T | CA7662551 | MPI | c.833A>T (p.Tyr278Phe) c.650A>T (p.Tyr217Phe) c.683A>T (p.Tyr228Phe) c.773A>T (p.Tyr258Phe) c.256-1225A>T (n.256-1225A>T) c.500A>T (p.Tyr167Phe) n.881A>T c.611A>T (p.Tyr204Phe) c.821A>T (p.Tyr274Phe) | dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.74896315C>A | CA393176104 | MPI | c.834C>A (p.Tyr278Ter) c.651C>A (p.Tyr217Ter) c.684C>A (p.Tyr228Ter) c.774C>A (p.Tyr258Ter) c.256-1224C>A (n.256-1224C>A) c.501C>A (p.Tyr167Ter) n.882C>A c.612C>A (p.Tyr204Ter) c.822C>A (p.Tyr274Ter) | |
15 | g.74896315C>G | CA393176105 | MPI | c.834C>G (p.Tyr278Ter) c.651C>G (p.Tyr217Ter) c.684C>G (p.Tyr228Ter) c.774C>G (p.Tyr258Ter) c.256-1224C>G (n.256-1224C>G) c.501C>G (p.Tyr167Ter) n.882C>G c.612C>G (p.Tyr204Ter) c.822C>G (p.Tyr274Ter) | |
15 | g.74896315C>T | CA491491467 | MPI | c.834C>T (p.Tyr278=) c.651C>T (p.Tyr217=) c.684C>T (p.Tyr228=) c.774C>T (p.Tyr258=) c.256-1224C>T (n.256-1224C>T) c.501C>T (p.Tyr167=) n.882C>T c.612C>T (p.Tyr204=) c.822C>T (p.Tyr274=) | ClinVar gnomAD v4 |
15 | g.74896316C>A | CA393176106 | MPI | c.835C>A (p.Leu279Met) c.652C>A (p.Leu218Met) c.685C>A (p.Leu229Met) c.775C>A (p.Leu259Met) c.256-1223C>A (n.256-1223C>A) c.502C>A (p.Leu168Met) n.883C>A c.613C>A (p.Leu205Met) c.823C>A (p.Leu275Met) | |
15 | g.74896316C>G | CA393176107 | MPI | c.835C>G (p.Leu279Val) c.652C>G (p.Leu218Val) c.685C>G (p.Leu229Val) c.775C>G (p.Leu259Val) c.256-1223C>G (n.256-1223C>G) c.502C>G (p.Leu168Val) n.883C>G c.613C>G (p.Leu205Val) c.823C>G (p.Leu275Val) | |
15 | g.74896316C>T | CA491491468 | MPI | c.835C>T (p.Leu279=) c.652C>T (p.Leu218=) c.685C>T (p.Leu229=) c.775C>T (p.Leu259=) c.256-1223C>T (n.256-1223C>T) c.502C>T (p.Leu168=) n.883C>T c.613C>T (p.Leu205=) c.823C>T (p.Leu275=) | |
15 | g.74896317T>A | CA393176108 | MPI | c.836T>A (p.Leu279Gln) c.653T>A (p.Leu218Gln) c.686T>A (p.Leu229Gln) c.776T>A (p.Leu259Gln) c.256-1222T>A (n.256-1222T>A) c.503T>A (p.Leu168Gln) n.884T>A c.614T>A (p.Leu205Gln) c.824T>A (p.Leu275Gln) | |
15 | g.74896317T>C | CA393176109 | MPI | c.836T>C (p.Leu279Pro) c.653T>C (p.Leu218Pro) c.686T>C (p.Leu229Pro) c.776T>C (p.Leu259Pro) c.256-1222T>C (n.256-1222T>C) c.503T>C (p.Leu168Pro) n.884T>C c.614T>C (p.Leu205Pro) c.824T>C (p.Leu275Pro) | |
15 | g.74896317T>G | CA393176110 | MPI | c.836T>G (p.Leu279Arg) c.653T>G (p.Leu218Arg) c.686T>G (p.Leu229Arg) c.776T>G (p.Leu259Arg) c.256-1222T>G (n.256-1222T>G) c.503T>G (p.Leu168Arg) n.884T>G c.614T>G (p.Leu205Arg) c.824T>G (p.Leu275Arg) | |
15 | g.74896318G>A | CA491491472 | MPI | c.837G>A (p.Leu279=) c.654G>A (p.Leu218=) c.687G>A (p.Leu229=) c.777G>A (p.Leu259=) c.256-1221G>A (n.256-1221G>A) c.504G>A (p.Leu168=) n.885G>A c.615G>A (p.Leu205=) c.825G>A (p.Leu275=) | |
15 | g.74896318G>C | CA491491473 | MPI | c.837G>C (p.Leu279=) c.654G>C (p.Leu218=) c.687G>C (p.Leu229=) c.777G>C (p.Leu259=) c.256-1221G>C (n.256-1221G>C) c.504G>C (p.Leu168=) n.885G>C c.615G>C (p.Leu205=) c.825G>C (p.Leu275=) | |
15 | g.74896318G>T | CA491491474 | MPI | c.837G>T (p.Leu279=) c.654G>T (p.Leu218=) c.687G>T (p.Leu229=) c.777G>T (p.Leu259=) c.256-1221G>T (n.256-1221G>T) c.504G>T (p.Leu168=) n.885G>T c.615G>T (p.Leu205=) c.825G>T (p.Leu275=) | |
15 | g.74896319A>C | CA393176111 | MPI | c.838A>C (p.Lys280Gln) c.655A>C (p.Lys219Gln) c.688A>C (p.Lys230Gln) c.778A>C (p.Lys260Gln) c.256-1220A>C (n.256-1220A>C) c.505A>C (p.Lys169Gln) n.886A>C c.616A>C (p.Lys206Gln) c.826A>C (p.Lys276Gln) | |
15 | g.74896319A>G | CA393176112 | MPI | c.838A>G (p.Lys280Glu) c.655A>G (p.Lys219Glu) c.688A>G (p.Lys230Glu) c.778A>G (p.Lys260Glu) c.256-1220A>G (n.256-1220A>G) c.505A>G (p.Lys169Glu) n.886A>G c.616A>G (p.Lys206Glu) c.826A>G (p.Lys276Glu) | gnomAD v4 |
15 | g.74896319A>T | CA393176113 | MPI | c.838A>T (p.Lys280Ter) c.655A>T (p.Lys219Ter) c.688A>T (p.Lys230Ter) c.778A>T (p.Lys260Ter) c.256-1220A>T (n.256-1220A>T) c.505A>T (p.Lys169Ter) n.886A>T c.616A>T (p.Lys206Ter) c.826A>T (p.Lys276Ter) | |
15 | g.74896320A>C | CA393176114 | MPI | c.839A>C (p.Lys280Thr) c.656A>C (p.Lys219Thr) c.689A>C (p.Lys230Thr) c.779A>C (p.Lys260Thr) c.256-1219A>C (n.256-1219A>C) c.506A>C (p.Lys169Thr) n.887A>C c.617A>C (p.Lys206Thr) c.827A>C (p.Lys276Thr) | |
15 | g.74896320A>G | CA393176116 | MPI | c.839A>G (p.Lys280Arg) c.656A>G (p.Lys219Arg) c.689A>G (p.Lys230Arg) c.779A>G (p.Lys260Arg) c.256-1219A>G (n.256-1219A>G) c.506A>G (p.Lys169Arg) n.887A>G c.617A>G (p.Lys206Arg) c.827A>G (p.Lys276Arg) | |
15 | g.74896320A>T | CA393176115 | MPI | c.839A>T (p.Lys280Ile) c.656A>T (p.Lys219Ile) c.689A>T (p.Lys230Ile) c.779A>T (p.Lys260Ile) c.256-1219A>T (n.256-1219A>T) c.506A>T (p.Lys169Ile) n.887A>T c.617A>T (p.Lys206Ile) c.827A>T (p.Lys276Ile) | |
15 | g.74896320_74896323delinsAAGG | CA2187901995 | MPI | c.839_842delinsAAGG (p.Lys280=) c.656_659delinsAAGG (p.Lys219=) c.689_692delinsAAGG (p.Lys230=) c.779_782delinsAAGG (p.Lys260=) c.256-1219_256-1216delinsAAGG (n.256-1219_256-1216delinsAAGG) c.506_509delinsAAGG (p.Lys169=) n.887_890delinsAAGG c.617_620delinsAAGG (p.Lys206=) c.827_830delinsAAGG (p.Lys276=) | |
15 | g.74896321A>C | CA393176117 | MPI | c.840A>C (p.Lys280Asn) c.657A>C (p.Lys219Asn) c.690A>C (p.Lys230Asn) c.780A>C (p.Lys260Asn) c.256-1218A>C (n.256-1218A>C) c.507A>C (p.Lys169Asn) n.888A>C c.618A>C (p.Lys206Asn) c.828A>C (p.Lys276Asn) | |
15 | g.74896321A>G | CA491491478 | MPI | c.840A>G (p.Lys280=) c.657A>G (p.Lys219=) c.690A>G (p.Lys230=) c.780A>G (p.Lys260=) c.256-1218A>G (n.256-1218A>G) c.507A>G (p.Lys169=) n.888A>G c.618A>G (p.Lys206=) c.828A>G (p.Lys276=) | |
15 | g.74896321A>T | CA393176118 | MPI | c.840A>T (p.Lys280Asn) c.657A>T (p.Lys219Asn) c.690A>T (p.Lys230Asn) c.780A>T (p.Lys260Asn) c.256-1218A>T (n.256-1218A>T) c.507A>T (p.Lys169Asn) n.888A>T c.618A>T (p.Lys206Asn) c.828A>T (p.Lys276Asn) | |
15 | g.74896324_74896326del | CA619413160 | MPI | c.843_844+1del c.660_661+1del c.693_694+1del c.783_785del (p.Gly262del) c.256-1215_256-1213del (n.256-1215_256-1213del) c.843_845del (p.Gly282del) c.783_784+1del c.510_512del (p.Gly171del) n.891_893del c.621_622+1del c.831_832+1del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896322G>A | CA393176119 | MPI | c.841G>A (p.Gly281Arg) c.658G>A (p.Gly220Arg) c.691G>A (p.Gly231Arg) c.781G>A (p.Gly261Arg) c.256-1217G>A (n.256-1217G>A) c.508G>A (p.Gly170Arg) n.889G>A c.619G>A (p.Gly207Arg) c.829G>A (p.Gly277Arg) | gnomAD v4 |
15 | g.74896322G>C | CA393176120 | MPI | c.841G>C (p.Gly281Arg) c.658G>C (p.Gly220Arg) c.691G>C (p.Gly231Arg) c.781G>C (p.Gly261Arg) c.256-1217G>C (n.256-1217G>C) c.508G>C (p.Gly170Arg) n.889G>C c.619G>C (p.Gly207Arg) c.829G>C (p.Gly277Arg) | |
15 | g.74896322G= | CA2187901999 | MPI | c.841G= (p.Gly281=) c.658G= (p.Gly220=) c.691G= (p.Gly231=) c.781G= (p.Gly261=) c.256-1217G= (n.256-1217G=) c.508G= (p.Gly170=) n.889G= c.619G= (p.Gly207=) c.829G= (p.Gly277=) | |
15 | g.74896322G>T | CA7662552 | MPI | c.841G>T (p.Gly281Ter) c.658G>T (p.Gly220Ter) c.691G>T (p.Gly231Ter) c.781G>T (p.Gly261Ter) c.256-1217G>T (n.256-1217G>T) c.508G>T (p.Gly170Ter) n.889G>T c.619G>T (p.Gly207Ter) c.829G>T (p.Gly277Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896323G>A | CA7662553 | MPI | c.842G>A (p.Gly281Glu) c.659G>A (p.Gly220Glu) c.692G>A (p.Gly231Glu) c.782G>A (p.Gly261Glu) c.256-1216G>A (n.256-1216G>A) c.509G>A (p.Gly170Glu) n.890G>A c.620G>A (p.Gly207Glu) c.830G>A (p.Gly277Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896323G>C | CA393176121 | MPI | c.842G>C (p.Gly281Ala) c.659G>C (p.Gly220Ala) c.692G>C (p.Gly231Ala) c.782G>C (p.Gly261Ala) c.256-1216G>C (n.256-1216G>C) c.509G>C (p.Gly170Ala) n.890G>C c.620G>C (p.Gly207Ala) c.830G>C (p.Gly277Ala) | |
15 | g.74896323G= | CA2187902004 | MPI | c.842G= (p.Gly281=) c.659G= (p.Gly220=) c.692G= (p.Gly231=) c.782G= (p.Gly261=) c.256-1216G= (n.256-1216G=) c.509G= (p.Gly170=) n.890G= c.620G= (p.Gly207=) c.830G= (p.Gly277=) | |
15 | g.74896323G>T | CA393176122 | MPI | c.842G>T (p.Gly281Val) c.659G>T (p.Gly220Val) c.692G>T (p.Gly231Val) c.782G>T (p.Gly261Val) c.256-1216G>T (n.256-1216G>T) c.509G>T (p.Gly170Val) n.890G>T c.620G>T (p.Gly207Val) c.830G>T (p.Gly277Val) | |
15 | g.74896324A>C | CA491491482 | MPI | c.843A>C (p.Gly281=) c.660A>C (p.Gly220=) c.693A>C (p.Gly231=) c.783A>C (p.Gly261=) c.256-1215A>C (n.256-1215A>C) c.510A>C (p.Gly170=) n.891A>C c.621A>C (p.Gly207=) c.831A>C (p.Gly277=) | |
15 | g.74896324A>G | CA491491483 | MPI | c.843A>G (p.Gly281=) c.660A>G (p.Gly220=) c.693A>G (p.Gly231=) c.783A>G (p.Gly261=) c.256-1215A>G (n.256-1215A>G) c.510A>G (p.Gly170=) n.891A>G c.621A>G (p.Gly207=) c.831A>G (p.Gly277=) | |
15 | g.74896324A>T | CA491491484 | MPI | c.843A>T (p.Gly281=) c.660A>T (p.Gly220=) c.693A>T (p.Gly231=) c.783A>T (p.Gly261=) c.256-1215A>T (n.256-1215A>T) c.510A>T (p.Gly170=) n.891A>T c.621A>T (p.Gly207=) c.831A>T (p.Gly277=) | |
15 | g.74896325G>A | CA393176123 | MPI | c.844G>A (p.Asp282Asn) c.661G>A (p.Asp221Asn) c.694G>A (p.Asp232Asn) c.784G>A (p.Gly262Ser) c.256-1214G>A (n.256-1214G>A) c.844G>A (p.Gly282Ser) c.784G>A (p.Asp262Asn) c.511G>A (p.Gly171Ser) n.892G>A c.622G>A (p.Gly208Ser) c.832G>A (p.Asp278Asn) c.694G>A (p.Gly232Ser) | gnomAD v4 |
15 | g.74896325G>C | CA393176124 | MPI | c.844G>C (p.Asp282His) c.661G>C (p.Asp221His) c.694G>C (p.Asp232His) c.784G>C (p.Gly262Arg) c.256-1214G>C (n.256-1214G>C) c.844G>C (p.Gly282Arg) c.784G>C (p.Asp262His) c.511G>C (p.Gly171Arg) n.892G>C c.622G>C (p.Gly208Arg) c.832G>C (p.Asp278His) c.694G>C (p.Gly232Arg) | |
15 | g.74896325G= | CA2187902009 | MPI | c.844G= (p.Asp282=) c.661G= (p.Asp221=) c.694G= (p.Asp232=) c.784G= (p.Gly262=) c.256-1214G= (n.256-1214G=) c.844G= (p.Gly282=) c.784G= (p.Asp262=) c.511G= (p.Gly171=) n.892G= c.622G= (p.Gly208=) c.832G= (p.Asp278=) c.694G= (p.Gly232=) | |
15 | g.74896325G>T | CA393176125 | MPI | c.844G>T (p.Asp282Tyr) c.661G>T (p.Asp221Tyr) c.694G>T (p.Asp232Tyr) c.784G>T (p.Gly262Cys) c.256-1214G>T (n.256-1214G>T) c.844G>T (p.Gly282Cys) c.784G>T (p.Asp262Tyr) c.511G>T (p.Gly171Cys) n.892G>T c.622G>T (p.Gly208Cys) c.832G>T (p.Asp278Tyr) c.694G>T (p.Gly232Cys) | dbSNP |
15 | g.74896326G>A | CA393176127 | MPI | c.844+1G>A (n.844+1G>A) c.661+1G>A (n.661+1G>A) c.694+1G>A (n.694+1G>A) c.785G>A (p.Gly262Asp) c.256-1213G>A (n.256-1213G>A) c.845G>A (p.Gly282Asp) c.784+1G>A (n.784+1G>A) c.512G>A (p.Gly171Asp) n.893G>A c.622+1G>A (n.622+1G>A) c.832+1G>A (n.832+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896326G>C | CA393176128 | MPI | c.844+1G>C (n.844+1G>C) c.661+1G>C (n.661+1G>C) c.694+1G>C (n.694+1G>C) c.785G>C (p.Gly262Ala) c.256-1213G>C (n.256-1213G>C) c.845G>C (p.Gly282Ala) c.784+1G>C (n.784+1G>C) c.512G>C (p.Gly171Ala) n.893G>C c.622+1G>C (n.622+1G>C) c.832+1G>C (n.832+1G>C) | |
15 | g.74896326G= | CA2187902015 | MPI | c.844+1G= (n.844+1G=) c.661+1G= (n.661+1G=) c.694+1G= (n.694+1G=) c.785G= (p.Gly262=) c.256-1213G= (n.256-1213G=) c.845G= (p.Gly282=) c.784+1G= (n.784+1G=) c.512G= (p.Gly171=) n.893G= c.622+1G= (n.622+1G=) c.832+1G= (n.832+1G=) | |
15 | g.74896326G>T | CA393176126 | MPI | c.844+1G>T (n.844+1G>T) c.661+1G>T (n.661+1G>T) c.694+1G>T (n.694+1G>T) c.785G>T (p.Gly262Val) c.256-1213G>T (n.256-1213G>T) c.845G>T (p.Gly282Val) c.784+1G>T (n.784+1G>T) c.512G>T (p.Gly171Val) n.893G>T c.622+1G>T (n.622+1G>T) c.832+1G>T (n.832+1G>T) | gnomAD v4 |
15 | g.74896333_74896350del | CA2629530769 | MPI | c.844+8_844+25del (n.844+8_844+25del) c.661+8_661+25del (n.661+8_661+25del) c.694+8_694+25del (n.694+8_694+25del) c.792_809del (p.His265_Pro270del) c.256-1206_256-1189del (n.256-1206_256-1189del) c.852_869del (p.His285_Pro290del) c.784+8_784+25del (n.784+8_784+25del) c.519_536del (p.His174_Pro179del) n.900_917del c.622+8_622+25del (n.622+8_622+25del) c.832+8_832+25del (n.832+8_832+25del) | gnomAD v4 |
15 | g.74896327T>A | CA393176131 | MPI | c.844+2T>A (n.844+2T>A) c.661+2T>A (n.661+2T>A) c.694+2T>A (n.694+2T>A) c.786T>A (p.Gly262=) c.256-1212T>A (n.256-1212T>A) c.846T>A (p.Gly282=) c.784+2T>A (n.784+2T>A) c.513T>A (p.Gly171=) n.894T>A c.622+2T>A (n.622+2T>A) c.832+2T>A (n.832+2T>A) | |
15 | g.74896327T>C | CA393176129 | MPI | c.844+2T>C (n.844+2T>C) c.661+2T>C (n.661+2T>C) c.694+2T>C (n.694+2T>C) c.786T>C (p.Gly262=) c.256-1212T>C (n.256-1212T>C) c.846T>C (p.Gly282=) c.784+2T>C (n.784+2T>C) c.513T>C (p.Gly171=) n.894T>C c.622+2T>C (n.622+2T>C) c.832+2T>C (n.832+2T>C) | ClinVar |
15 | g.74896327T>G | CA393176130 | MPI | c.844+2T>G (n.844+2T>G) c.661+2T>G (n.661+2T>G) c.694+2T>G (n.694+2T>G) c.786T>G (p.Gly262=) c.256-1212T>G (n.256-1212T>G) c.846T>G (p.Gly282=) c.784+2T>G (n.784+2T>G) c.513T>G (p.Gly171=) n.894T>G c.622+2T>G (n.622+2T>G) c.832+2T>G (n.832+2T>G) | ClinVar dbSNP |
15 | g.74896328G>A | CA7662554 | MPI | c.844+3G>A (n.844+3G>A) c.661+3G>A (n.661+3G>A) c.694+3G>A (n.694+3G>A) c.787G>A (p.Glu263Lys) c.256-1211G>A (n.256-1211G>A) c.847G>A (p.Glu283Lys) c.784+3G>A (n.784+3G>A) c.514G>A (p.Glu172Lys) n.895G>A c.622+3G>A (n.622+3G>A) c.832+3G>A (n.832+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896328G>C | CA393176132 | MPI | c.844+3G>C (n.844+3G>C) c.661+3G>C (n.661+3G>C) c.694+3G>C (n.694+3G>C) c.787G>C (p.Glu263Gln) c.256-1211G>C (n.256-1211G>C) c.847G>C (p.Glu283Gln) c.784+3G>C (n.784+3G>C) c.514G>C (p.Glu172Gln) n.895G>C c.622+3G>C (n.622+3G>C) c.832+3G>C (n.832+3G>C) | |
15 | g.74896328G= | CA2187902022 | MPI | c.844+3G= (n.844+3G=) c.661+3G= (n.661+3G=) c.694+3G= (n.694+3G=) c.787G= (p.Glu263=) c.256-1211G= (n.256-1211G=) c.847G= (p.Glu283=) c.784+3G= (n.784+3G=) c.514G= (p.Glu172=) n.895G= c.622+3G= (n.622+3G=) c.832+3G= (n.832+3G=) | |
15 | g.74896328G>T | CA393176133 | MPI | c.844+3G>T (n.844+3G>T) c.661+3G>T (n.661+3G>T) c.694+3G>T (n.694+3G>T) c.787G>T (p.Glu263Ter) c.256-1211G>T (n.256-1211G>T) c.847G>T (p.Glu283Ter) c.784+3G>T (n.784+3G>T) c.514G>T (p.Glu172Ter) n.895G>T c.622+3G>T (n.622+3G>T) c.832+3G>T (n.832+3G>T) | |
15 | g.74896329A>C | CA393176134 | MPI | c.844+4A>C (n.844+4A>C) c.661+4A>C (n.661+4A>C) c.694+4A>C (n.694+4A>C) c.788A>C (p.Glu263Ala) c.256-1210A>C (n.256-1210A>C) c.848A>C (p.Glu283Ala) c.784+4A>C (n.784+4A>C) c.515A>C (p.Glu172Ala) n.896A>C c.622+4A>C (n.622+4A>C) c.832+4A>C (n.832+4A>C) | |
15 | g.74896329A>G | CA393176135 | MPI | c.844+4A>G (n.844+4A>G) c.661+4A>G (n.661+4A>G) c.694+4A>G (n.694+4A>G) c.788A>G (p.Glu263Gly) c.256-1210A>G (n.256-1210A>G) c.848A>G (p.Glu283Gly) c.784+4A>G (n.784+4A>G) c.515A>G (p.Glu172Gly) n.896A>G c.622+4A>G (n.622+4A>G) c.832+4A>G (n.832+4A>G) | |
15 | g.74896329A>T | CA393176136 | MPI | c.844+4A>T (n.844+4A>T) c.661+4A>T (n.661+4A>T) c.694+4A>T (n.694+4A>T) c.788A>T (p.Glu263Val) c.256-1210A>T (n.256-1210A>T) c.848A>T (p.Glu283Val) c.784+4A>T (n.784+4A>T) c.515A>T (p.Glu172Val) n.896A>T c.622+4A>T (n.622+4A>T) c.832+4A>T (n.832+4A>T) | |
15 | g.74896330G>C | CA393176137 | MPI | c.844+5G>C (n.844+5G>C) c.661+5G>C (n.661+5G>C) c.694+5G>C (n.694+5G>C) c.789G>C (p.Glu263Asp) c.256-1209G>C (n.256-1209G>C) c.849G>C (p.Glu283Asp) c.784+5G>C (n.784+5G>C) c.516G>C (p.Glu172Asp) n.897G>C c.622+5G>C (n.622+5G>C) c.832+5G>C (n.832+5G>C) | |
15 | g.74896330G>T | CA393176138 | MPI | c.844+5G>T (n.844+5G>T) c.661+5G>T (n.661+5G>T) c.694+5G>T (n.694+5G>T) c.789G>T (p.Glu263Asp) c.256-1209G>T (n.256-1209G>T) c.849G>T (p.Glu283Asp) c.784+5G>T (n.784+5G>T) c.516G>T (p.Glu172Asp) n.897G>T c.622+5G>T (n.622+5G>T) c.832+5G>T (n.832+5G>T) | |
15 | g.74896331C>A | CA393176139 | MPI | c.844+6C>A (n.844+6C>A) c.661+6C>A (n.661+6C>A) c.694+6C>A (n.694+6C>A) c.790C>A (p.Pro264Thr) c.256-1208C>A (n.256-1208C>A) c.850C>A (p.Pro284Thr) c.784+6C>A (n.784+6C>A) c.517C>A (p.Pro173Thr) n.898C>A c.622+6C>A (n.622+6C>A) c.832+6C>A (n.832+6C>A) | |
15 | g.74896331C= | CA2187902024 | MPI | c.844+6C= (n.844+6C=) c.661+6C= (n.661+6C=) c.694+6C= (n.694+6C=) c.790C= (p.Pro264=) c.256-1208C= (n.256-1208C=) c.850C= (p.Pro284=) c.784+6C= (n.784+6C=) c.517C= (p.Pro173=) n.898C= c.622+6C= (n.622+6C=) c.832+6C= (n.832+6C=) | |
15 | g.74896331C>G | CA393176140 | MPI | c.844+6C>G (n.844+6C>G) c.661+6C>G (n.661+6C>G) c.694+6C>G (n.694+6C>G) c.790C>G (p.Pro264Ala) c.256-1208C>G (n.256-1208C>G) c.850C>G (p.Pro284Ala) c.784+6C>G (n.784+6C>G) c.517C>G (p.Pro173Ala) n.898C>G c.622+6C>G (n.622+6C>G) c.832+6C>G (n.832+6C>G) | |
15 | g.74896331C>T | CA393176141 | MPI | c.844+6C>T (n.844+6C>T) c.661+6C>T (n.661+6C>T) c.694+6C>T (n.694+6C>T) c.790C>T (p.Pro264Ser) c.256-1208C>T (n.256-1208C>T) c.850C>T (p.Pro284Ser) c.784+6C>T (n.784+6C>T) c.517C>T (p.Pro173Ser) n.898C>T c.622+6C>T (n.622+6C>T) c.832+6C>T (n.832+6C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896332C>A | CA393176144 | MPI | c.844+7C>A (n.844+7C>A) c.661+7C>A (n.661+7C>A) c.694+7C>A (n.694+7C>A) c.791C>A (p.Pro264Gln) c.256-1207C>A (n.256-1207C>A) c.851C>A (p.Pro284Gln) c.784+7C>A (n.784+7C>A) c.518C>A (p.Pro173Gln) n.899C>A c.622+7C>A (n.622+7C>A) c.832+7C>A (n.832+7C>A) | |
15 | g.74896332C>G | CA393176143 | MPI | c.844+7C>G (n.844+7C>G) c.661+7C>G (n.661+7C>G) c.694+7C>G (n.694+7C>G) c.791C>G (p.Pro264Arg) c.256-1207C>G (n.256-1207C>G) c.851C>G (p.Pro284Arg) c.784+7C>G (n.784+7C>G) c.518C>G (p.Pro173Arg) n.899C>G c.622+7C>G (n.622+7C>G) c.832+7C>G (n.832+7C>G) | |
15 | g.74896332C>T | CA393176142 | MPI | c.844+7C>T (n.844+7C>T) c.661+7C>T (n.661+7C>T) c.694+7C>T (n.694+7C>T) c.791C>T (p.Pro264Leu) c.256-1207C>T (n.256-1207C>T) c.851C>T (p.Pro284Leu) c.784+7C>T (n.784+7C>T) c.518C>T (p.Pro173Leu) n.899C>T c.622+7C>T (n.622+7C>T) c.832+7C>T (n.832+7C>T) | gnomAD v4 |
15 | g.74896334C>A | CA393176145 | MPI | c.844+9C>A (n.844+9C>A) c.661+9C>A (n.661+9C>A) c.694+9C>A (n.694+9C>A) c.793C>A (p.His265Asn) c.256-1205C>A (n.256-1205C>A) c.853C>A (p.His285Asn) c.784+9C>A (n.784+9C>A) c.520C>A (p.His174Asn) n.901C>A c.622+9C>A (n.622+9C>A) c.832+9C>A (n.832+9C>A) | |
15 | g.74896334C>G | CA393176146 | MPI | c.844+9C>G (n.844+9C>G) c.661+9C>G (n.661+9C>G) c.694+9C>G (n.694+9C>G) c.793C>G (p.His265Asp) c.256-1205C>G (n.256-1205C>G) c.853C>G (p.His285Asp) c.784+9C>G (n.784+9C>G) c.520C>G (p.His174Asp) n.901C>G c.622+9C>G (n.622+9C>G) c.832+9C>G (n.832+9C>G) | ClinVar dbSNP |
15 | g.74896334C>T | CA393176147 | MPI | c.844+9C>T (n.844+9C>T) c.661+9C>T (n.661+9C>T) c.694+9C>T (n.694+9C>T) c.793C>T (p.His265Tyr) c.256-1205C>T (n.256-1205C>T) c.853C>T (p.His285Tyr) c.784+9C>T (n.784+9C>T) c.520C>T (p.His174Tyr) n.901C>T c.622+9C>T (n.622+9C>T) c.832+9C>T (n.832+9C>T) | gnomAD v4 |
15 | g.74896335A>C | CA393176148 | MPI | c.844+10A>C (n.844+10A>C) c.661+10A>C (n.661+10A>C) c.694+10A>C (n.694+10A>C) c.794A>C (p.His265Pro) c.256-1204A>C (n.256-1204A>C) c.854A>C (p.His285Pro) c.784+10A>C (n.784+10A>C) c.521A>C (p.His174Pro) n.902A>C c.622+10A>C (n.622+10A>C) c.832+10A>C (n.832+10A>C) | |
15 | g.74896335A>G | CA393176149 | MPI | c.844+10A>G (n.844+10A>G) c.661+10A>G (n.661+10A>G) c.694+10A>G (n.694+10A>G) c.794A>G (p.His265Arg) c.256-1204A>G (n.256-1204A>G) c.854A>G (p.His285Arg) c.784+10A>G (n.784+10A>G) c.521A>G (p.His174Arg) n.902A>G c.622+10A>G (n.622+10A>G) c.832+10A>G (n.832+10A>G) | ClinVar |
15 | g.74896335A>T | CA393176150 | MPI | c.844+10A>T (n.844+10A>T) c.661+10A>T (n.661+10A>T) c.694+10A>T (n.694+10A>T) c.794A>T (p.His265Leu) c.256-1204A>T (n.256-1204A>T) c.854A>T (p.His285Leu) c.784+10A>T (n.784+10A>T) c.521A>T (p.His174Leu) n.902A>T c.622+10A>T (n.622+10A>T) c.832+10A>T (n.832+10A>T) | |
15 | g.74896336T>A | CA393176151 | MPI | c.844+11T>A (n.844+11T>A) c.661+11T>A (n.661+11T>A) c.694+11T>A (n.694+11T>A) c.795T>A (p.His265Gln) c.256-1203T>A (n.256-1203T>A) c.855T>A (p.His285Gln) c.784+11T>A (n.784+11T>A) c.522T>A (p.His174Gln) n.903T>A c.622+11T>A (n.622+11T>A) c.832+11T>A (n.832+11T>A) | |
15 | g.74896336T>G | CA393176152 | MPI | c.844+11T>G (n.844+11T>G) c.661+11T>G (n.661+11T>G) c.694+11T>G (n.694+11T>G) c.795T>G (p.His265Gln) c.256-1203T>G (n.256-1203T>G) c.855T>G (p.His285Gln) c.784+11T>G (n.784+11T>G) c.522T>G (p.His174Gln) n.903T>G c.622+11T>G (n.622+11T>G) c.832+11T>G (n.832+11T>G) | |
15 | g.74896337T>A | CA393176153 | MPI | c.844+12T>A (n.844+12T>A) c.661+12T>A (n.661+12T>A) c.694+12T>A (n.694+12T>A) c.796T>A (p.Phe266Ile) c.256-1202T>A (n.256-1202T>A) c.856T>A (p.Phe286Ile) c.784+12T>A (n.784+12T>A) c.523T>A (p.Phe175Ile) n.904T>A c.622+12T>A (n.622+12T>A) c.832+12T>A (n.832+12T>A) | |
15 | g.74896337T>C | CA393176154 | MPI | c.844+12T>C (n.844+12T>C) c.661+12T>C (n.661+12T>C) c.694+12T>C (n.694+12T>C) c.796T>C (p.Phe266Leu) c.256-1202T>C (n.256-1202T>C) c.856T>C (p.Phe286Leu) c.784+12T>C (n.784+12T>C) c.523T>C (p.Phe175Leu) n.904T>C c.622+12T>C (n.622+12T>C) c.832+12T>C (n.832+12T>C) | |
15 | g.74896337T>G | CA393176155 | MPI | c.844+12T>G (n.844+12T>G) c.661+12T>G (n.661+12T>G) c.694+12T>G (n.694+12T>G) c.796T>G (p.Phe266Val) c.256-1202T>G (n.256-1202T>G) c.856T>G (p.Phe286Val) c.784+12T>G (n.784+12T>G) c.523T>G (p.Phe175Val) n.904T>G c.622+12T>G (n.622+12T>G) c.832+12T>G (n.832+12T>G) | |
15 | g.74896338T>A | CA393176156 | MPI | c.844+13T>A (n.844+13T>A) c.661+13T>A (n.661+13T>A) c.694+13T>A (n.694+13T>A) c.797T>A (p.Phe266Tyr) c.256-1201T>A (n.256-1201T>A) c.857T>A (p.Phe286Tyr) c.784+13T>A (n.784+13T>A) c.524T>A (p.Phe175Tyr) n.905T>A c.622+13T>A (n.622+13T>A) c.832+13T>A (n.832+13T>A) | |
15 | g.74896338T>C | CA393176157 | MPI | c.844+13T>C (n.844+13T>C) c.661+13T>C (n.661+13T>C) c.694+13T>C (n.694+13T>C) c.797T>C (p.Phe266Ser) c.256-1201T>C (n.256-1201T>C) c.857T>C (p.Phe286Ser) c.784+13T>C (n.784+13T>C) c.524T>C (p.Phe175Ser) n.905T>C c.622+13T>C (n.622+13T>C) c.832+13T>C (n.832+13T>C) | |
15 | g.74896338T>G | CA393176158 | MPI | c.844+13T>G (n.844+13T>G) c.661+13T>G (n.661+13T>G) c.694+13T>G (n.694+13T>G) c.797T>G (p.Phe266Cys) c.256-1201T>G (n.256-1201T>G) c.857T>G (p.Phe286Cys) c.784+13T>G (n.784+13T>G) c.524T>G (p.Phe175Cys) n.905T>G c.622+13T>G (n.622+13T>G) c.832+13T>G (n.832+13T>G) | |
15 | g.74896339C>A | CA393176159 | MPI | c.844+14C>A (n.844+14C>A) c.661+14C>A (n.661+14C>A) c.694+14C>A (n.694+14C>A) c.798C>A (p.Phe266Leu) c.256-1200C>A (n.256-1200C>A) c.858C>A (p.Phe286Leu) c.784+14C>A (n.784+14C>A) c.525C>A (p.Phe175Leu) n.906C>A c.622+14C>A (n.622+14C>A) c.832+14C>A (n.832+14C>A) | |
15 | g.74896339C= | CA2187902028 | MPI | c.844+14C= (n.844+14C=) c.661+14C= (n.661+14C=) c.694+14C= (n.694+14C=) c.798C= (p.Phe266=) c.256-1200C= (n.256-1200C=) c.858C= (p.Phe286=) c.784+14C= (n.784+14C=) c.525C= (p.Phe175=) n.906C= c.622+14C= (n.622+14C=) c.832+14C= (n.832+14C=) | |
15 | g.74896339C>G | CA7662555 | MPI | c.844+14C>G (n.844+14C>G) c.661+14C>G (n.661+14C>G) c.694+14C>G (n.694+14C>G) c.798C>G (p.Phe266Leu) c.256-1200C>G (n.256-1200C>G) c.858C>G (p.Phe286Leu) c.784+14C>G (n.784+14C>G) c.525C>G (p.Phe175Leu) n.906C>G c.622+14C>G (n.622+14C>G) c.832+14C>G (n.832+14C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896339C>T | CA7662556 | MPI | c.844+14C>T (n.844+14C>T) c.661+14C>T (n.661+14C>T) c.694+14C>T (n.694+14C>T) c.798C>T (p.Phe266=) c.256-1200C>T (n.256-1200C>T) c.858C>T (p.Phe286=) c.784+14C>T (n.784+14C>T) c.525C>T (p.Phe175=) n.906C>T c.622+14C>T (n.622+14C>T) c.832+14C>T (n.832+14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896340A>C | CA393176160 | MPI | c.844+15A>C (n.844+15A>C) c.661+15A>C (n.661+15A>C) c.694+15A>C (n.694+15A>C) c.799A>C (p.Ser267Arg) c.256-1199A>C (n.256-1199A>C) c.859A>C (p.Ser287Arg) c.784+15A>C (n.784+15A>C) c.526A>C (p.Ser176Arg) n.907A>C c.622+15A>C (n.622+15A>C) c.832+15A>C (n.832+15A>C) | |
15 | g.74896340A>G | CA393176161 | MPI | c.844+15A>G (n.844+15A>G) c.661+15A>G (n.661+15A>G) c.694+15A>G (n.694+15A>G) c.799A>G (p.Ser267Gly) c.256-1199A>G (n.256-1199A>G) c.859A>G (p.Ser287Gly) c.784+15A>G (n.784+15A>G) c.526A>G (p.Ser176Gly) n.907A>G c.622+15A>G (n.622+15A>G) c.832+15A>G (n.832+15A>G) | |
15 | g.74896340A>T | CA393176162 | MPI | c.844+15A>T (n.844+15A>T) c.661+15A>T (n.661+15A>T) c.694+15A>T (n.694+15A>T) c.799A>T (p.Ser267Cys) c.256-1199A>T (n.256-1199A>T) c.859A>T (p.Ser287Cys) c.784+15A>T (n.784+15A>T) c.526A>T (p.Ser176Cys) n.907A>T c.622+15A>T (n.622+15A>T) c.832+15A>T (n.832+15A>T) | |
15 | g.74896341G>A | CA393176163 | MPI | c.844+16G>A (n.844+16G>A) c.661+16G>A (n.661+16G>A) c.694+16G>A (n.694+16G>A) c.800G>A (p.Ser267Asn) c.256-1198G>A (n.256-1198G>A) c.860G>A (p.Ser287Asn) c.784+16G>A (n.784+16G>A) c.527G>A (p.Ser176Asn) n.908G>A c.622+16G>A (n.622+16G>A) c.832+16G>A (n.832+16G>A) | |
15 | g.74896341G>C | CA393176164 | MPI | c.844+16G>C (n.844+16G>C) c.661+16G>C (n.661+16G>C) c.694+16G>C (n.694+16G>C) c.800G>C (p.Ser267Thr) c.256-1198G>C (n.256-1198G>C) c.860G>C (p.Ser287Thr) c.784+16G>C (n.784+16G>C) c.527G>C (p.Ser176Thr) n.908G>C c.622+16G>C (n.622+16G>C) c.832+16G>C (n.832+16G>C) | |
15 | g.74896341G>T | CA393176165 | MPI | c.844+16G>T (n.844+16G>T) c.661+16G>T (n.661+16G>T) c.694+16G>T (n.694+16G>T) c.800G>T (p.Ser267Ile) c.256-1198G>T (n.256-1198G>T) c.860G>T (p.Ser287Ile) c.784+16G>T (n.784+16G>T) c.527G>T (p.Ser176Ile) n.908G>T c.622+16G>T (n.622+16G>T) c.832+16G>T (n.832+16G>T) | |
15 | g.74896342C>A | CA393176166 | MPI | c.844+17C>A (n.844+17C>A) c.661+17C>A (n.661+17C>A) c.694+17C>A (n.694+17C>A) c.801C>A (p.Ser267Arg) c.256-1197C>A (n.256-1197C>A) c.861C>A (p.Ser287Arg) c.784+17C>A (n.784+17C>A) c.528C>A (p.Ser176Arg) n.909C>A c.622+17C>A (n.622+17C>A) c.832+17C>A (n.832+17C>A) | |
15 | g.74896342C= | CA2187902031 | MPI | c.844+17C= (n.844+17C=) c.661+17C= (n.661+17C=) c.694+17C= (n.694+17C=) c.801C= (p.Ser267=) c.256-1197C= (n.256-1197C=) c.861C= (p.Ser287=) c.784+17C= (n.784+17C=) c.528C= (p.Ser176=) n.909C= c.622+17C= (n.622+17C=) c.832+17C= (n.832+17C=) | |
15 | g.74896342C>G | CA393176167 | MPI | c.844+17C>G (n.844+17C>G) c.661+17C>G (n.661+17C>G) c.694+17C>G (n.694+17C>G) c.801C>G (p.Ser267Arg) c.256-1197C>G (n.256-1197C>G) c.861C>G (p.Ser287Arg) c.784+17C>G (n.784+17C>G) c.528C>G (p.Ser176Arg) n.909C>G c.622+17C>G (n.622+17C>G) c.832+17C>G (n.832+17C>G) | |
15 | g.74896342C>T | CA715671436 | MPI | c.844+17C>T (n.844+17C>T) c.661+17C>T (n.661+17C>T) c.694+17C>T (n.694+17C>T) c.801C>T (p.Ser267=) c.256-1197C>T (n.256-1197C>T) c.861C>T (p.Ser287=) c.784+17C>T (n.784+17C>T) c.528C>T (p.Ser176=) n.909C>T c.622+17C>T (n.622+17C>T) c.832+17C>T (n.832+17C>T) | dbSNP |
15 | g.74896343A>C | CA393176168 | MPI | c.844+18A>C (n.844+18A>C) c.661+18A>C (n.661+18A>C) c.694+18A>C (n.694+18A>C) c.802A>C (p.Ser268Arg) c.256-1196A>C (n.256-1196A>C) c.862A>C (p.Ser288Arg) c.784+18A>C (n.784+18A>C) c.529A>C (p.Ser177Arg) n.910A>C c.622+18A>C (n.622+18A>C) c.832+18A>C (n.832+18A>C) | |
15 | g.74896343A>G | CA393176169 | MPI | c.844+18A>G (n.844+18A>G) c.661+18A>G (n.661+18A>G) c.694+18A>G (n.694+18A>G) c.802A>G (p.Ser268Gly) c.256-1196A>G (n.256-1196A>G) c.862A>G (p.Ser288Gly) c.784+18A>G (n.784+18A>G) c.529A>G (p.Ser177Gly) n.910A>G c.622+18A>G (n.622+18A>G) c.832+18A>G (n.832+18A>G) | gnomAD v4 |
15 | g.74896343A>T | CA393176170 | MPI | c.844+18A>T (n.844+18A>T) c.661+18A>T (n.661+18A>T) c.694+18A>T (n.694+18A>T) c.802A>T (p.Ser268Cys) c.256-1196A>T (n.256-1196A>T) c.862A>T (p.Ser288Cys) c.784+18A>T (n.784+18A>T) c.529A>T (p.Ser177Cys) n.910A>T c.622+18A>T (n.622+18A>T) c.832+18A>T (n.832+18A>T) | |
15 | g.74896344G>A | CA393176171 | MPI | c.844+19G>A (n.844+19G>A) c.661+19G>A (n.661+19G>A) c.694+19G>A (n.694+19G>A) c.803G>A (p.Ser268Asn) c.256-1195G>A (n.256-1195G>A) c.863G>A (p.Ser288Asn) c.784+19G>A (n.784+19G>A) c.530G>A (p.Ser177Asn) n.911G>A c.622+19G>A (n.622+19G>A) c.832+19G>A (n.832+19G>A) | |
15 | g.74896344G>C | CA393176172 | MPI | c.844+19G>C (n.844+19G>C) c.661+19G>C (n.661+19G>C) c.694+19G>C (n.694+19G>C) c.803G>C (p.Ser268Thr) c.256-1195G>C (n.256-1195G>C) c.863G>C (p.Ser288Thr) c.784+19G>C (n.784+19G>C) c.530G>C (p.Ser177Thr) n.911G>C c.622+19G>C (n.622+19G>C) c.832+19G>C (n.832+19G>C) | |
15 | g.74896344G>T | CA393176173 | MPI | c.844+19G>T (n.844+19G>T) c.661+19G>T (n.661+19G>T) c.694+19G>T (n.694+19G>T) c.803G>T (p.Ser268Ile) c.256-1195G>T (n.256-1195G>T) c.863G>T (p.Ser288Ile) c.784+19G>T (n.784+19G>T) c.530G>T (p.Ser177Ile) n.911G>T c.622+19G>T (n.622+19G>T) c.832+19G>T (n.832+19G>T) | |
15 | g.74896345T>A | CA393176174 | MPI | c.844+20T>A (n.844+20T>A) c.661+20T>A (n.661+20T>A) c.694+20T>A (n.694+20T>A) c.804T>A (p.Ser268Arg) c.256-1194T>A (n.256-1194T>A) c.864T>A (p.Ser288Arg) c.784+20T>A (n.784+20T>A) c.531T>A (p.Ser177Arg) n.912T>A c.622+20T>A (n.622+20T>A) c.832+20T>A (n.832+20T>A) | |
15 | g.74896345T>G | CA393176175 | MPI | c.844+20T>G (n.844+20T>G) c.661+20T>G (n.661+20T>G) c.694+20T>G (n.694+20T>G) c.804T>G (p.Ser268Arg) c.256-1194T>G (n.256-1194T>G) c.864T>G (p.Ser288Arg) c.784+20T>G (n.784+20T>G) c.531T>G (p.Ser177Arg) n.912T>G c.622+20T>G (n.622+20T>G) c.832+20T>G (n.832+20T>G) | |
15 | g.74896346G>A | CA393176176 | MPI | c.844+21G>A (n.844+21G>A) c.661+21G>A (n.661+21G>A) c.694+21G>A (n.694+21G>A) c.805G>A (p.Glu269Lys) c.256-1193G>A (n.256-1193G>A) c.865G>A (p.Glu289Lys) c.784+21G>A (n.784+21G>A) c.532G>A (p.Glu178Lys) n.913G>A c.622+21G>A (n.622+21G>A) c.832+21G>A (n.832+21G>A) | |
15 | g.74896346G>C | CA393176177 | MPI | c.844+21G>C (n.844+21G>C) c.661+21G>C (n.661+21G>C) c.694+21G>C (n.694+21G>C) c.805G>C (p.Glu269Gln) c.256-1193G>C (n.256-1193G>C) c.865G>C (p.Glu289Gln) c.784+21G>C (n.784+21G>C) c.532G>C (p.Glu178Gln) n.913G>C c.622+21G>C (n.622+21G>C) c.832+21G>C (n.832+21G>C) | |
15 | g.74896346G>T | CA393176178 | MPI | c.844+21G>T (n.844+21G>T) c.661+21G>T (n.661+21G>T) c.694+21G>T (n.694+21G>T) c.805G>T (p.Glu269Ter) c.256-1193G>T (n.256-1193G>T) c.865G>T (p.Glu289Ter) c.784+21G>T (n.784+21G>T) c.532G>T (p.Glu178Ter) n.913G>T c.622+21G>T (n.622+21G>T) c.832+21G>T (n.832+21G>T) |