| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490439A= | CA1980172463 | AIP | c.746A= c.580A= (p.Ile194=) n.1281A= c.469-558A= (n.469-558A=) c.400A= (p.Ile134=) c.769A= (p.Ile257=) c.592A= (p.Ile198=) c.589A= (p.Ile197=) c.421A= (p.Ile141=) | |
| 11 | g.67490439A>C | CA381551919 | AIP | c.746A>C c.580A>C (p.Ile194Leu) n.1281A>C c.469-558A>C (n.469-558A>C) c.400A>C (p.Ile134Leu) c.769A>C (p.Ile257Leu) c.592A>C (p.Ile198Leu) c.589A>C (p.Ile197Leu) c.421A>C (p.Ile141Leu) | gnomAD v4 |
| 11 | g.67490439A>G | CA344179 | AIP | c.746A>G c.580A>G (p.Ile194Val) n.1281A>G c.469-558A>G (n.469-558A>G) c.400A>G (p.Ile134Val) c.769A>G (p.Ile257Val) c.592A>G (p.Ile198Val) c.589A>G (p.Ile197Val) c.421A>G (p.Ile141Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490439A>T | CA381551918 | AIP | c.746A>T c.580A>T (p.Ile194Phe) n.1281A>T c.469-558A>T (n.469-558A>T) c.400A>T (p.Ile134Phe) c.769A>T (p.Ile257Phe) c.592A>T (p.Ile198Phe) c.589A>T (p.Ile197Phe) c.421A>T (p.Ile141Phe) | |
| 11 | g.67490440T>A | CA381551920 | AIP | c.747T>A c.581T>A (p.Ile194Asn) n.1282T>A c.469-557T>A (n.469-557T>A) c.401T>A (p.Ile134Asn) c.770T>A (p.Ile257Asn) c.593T>A (p.Ile198Asn) c.590T>A (p.Ile197Asn) c.422T>A (p.Ile141Asn) | |
| 11 | g.67490440T>C | CA381551921 | AIP | c.747T>C c.581T>C (p.Ile194Thr) n.1282T>C c.469-557T>C (n.469-557T>C) c.401T>C (p.Ile134Thr) c.770T>C (p.Ile257Thr) c.593T>C (p.Ile198Thr) c.590T>C (p.Ile197Thr) c.422T>C (p.Ile141Thr) | |
| 11 | g.67490440T>G | CA381551922 | AIP | c.747T>G c.581T>G (p.Ile194Ser) n.1282T>G c.469-557T>G (n.469-557T>G) c.401T>G (p.Ile134Ser) c.770T>G (p.Ile257Ser) c.593T>G (p.Ile198Ser) c.590T>G (p.Ile197Ser) c.422T>G (p.Ile141Ser) | ClinVar |
| 11 | g.67490441C>A | CA475509306 | AIP | c.748C>A c.582C>A (p.Ile194=) n.1283C>A c.469-556C>A (n.469-556C>A) c.402C>A (p.Ile134=) c.771C>A (p.Ile257=) c.594C>A (p.Ile198=) c.591C>A (p.Ile197=) c.423C>A (p.Ile141=) | ClinVar |
| 11 | g.67490441C= | CA1980172464 | AIP | c.748C= c.582C= (p.Ile194=) n.1283C= c.469-556C= (n.469-556C=) c.402C= (p.Ile134=) c.771C= (p.Ile257=) c.594C= (p.Ile198=) c.591C= (p.Ile197=) c.423C= (p.Ile141=) | |
| 11 | g.67490441C>G | CA381551923 | AIP | c.748C>G c.582C>G (p.Ile194Met) n.1283C>G c.469-556C>G (n.469-556C>G) c.402C>G (p.Ile134Met) c.771C>G (p.Ile257Met) c.594C>G (p.Ile198Met) c.591C>G (p.Ile197Met) c.423C>G (p.Ile141Met) | |
| 11 | g.67490441C>T | CA475509307 | AIP | c.748C>T c.582C>T (p.Ile194=) n.1283C>T c.469-556C>T (n.469-556C>T) c.402C>T (p.Ile134=) c.771C>T (p.Ile257=) c.594C>T (p.Ile198=) c.591C>T (p.Ile197=) c.423C>T (p.Ile141=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490442C>A | CA381551924 | AIP | c.749C>A c.583C>A (p.Leu195Ile) n.1284C>A c.469-555C>A (n.469-555C>A) c.403C>A (p.Leu135Ile) c.772C>A (p.Leu258Ile) c.595C>A (p.Leu199Ile) c.592C>A (p.Leu198Ile) c.424C>A (p.Leu142Ile) | |
| 11 | g.67490442C= | CA1980172465 | AIP | c.749C= c.583C= (p.Leu195=) n.1284C= c.469-555C= (n.469-555C=) c.403C= (p.Leu135=) c.772C= (p.Leu258=) c.595C= (p.Leu199=) c.592C= (p.Leu198=) c.424C= (p.Leu142=) | |
| 11 | g.67490442C>G | CA381551925 | AIP | c.749C>G c.583C>G (p.Leu195Val) n.1284C>G c.469-555C>G (n.469-555C>G) c.403C>G (p.Leu135Val) c.772C>G (p.Leu258Val) c.595C>G (p.Leu199Val) c.592C>G (p.Leu198Val) c.424C>G (p.Leu142Val) | |
| 11 | g.67490442C>T | CA6140932 | AIP | c.749C>T c.583C>T (p.Leu195Phe) n.1284C>T c.469-555C>T (n.469-555C>T) c.403C>T (p.Leu135Phe) c.772C>T (p.Leu258Phe) c.595C>T (p.Leu199Phe) c.592C>T (p.Leu198Phe) c.424C>T (p.Leu142Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490443T>A | CA381551926 | AIP | c.750T>A c.584T>A (p.Leu195His) n.1285T>A c.469-554T>A (n.469-554T>A) c.404T>A (p.Leu135His) c.773T>A (p.Leu258His) c.596T>A (p.Leu199His) c.593T>A (p.Leu198His) c.425T>A (p.Leu142His) | |
| 11 | g.67490443T>C | CA381551927 | AIP | c.750T>C c.584T>C (p.Leu195Pro) n.1285T>C c.469-554T>C (n.469-554T>C) c.404T>C (p.Leu135Pro) c.773T>C (p.Leu258Pro) c.596T>C (p.Leu199Pro) c.593T>C (p.Leu198Pro) c.425T>C (p.Leu142Pro) | |
| 11 | g.67490443T>G | CA381551928 | AIP | c.750T>G c.584T>G (p.Leu195Arg) n.1285T>G c.469-554T>G (n.469-554T>G) c.404T>G (p.Leu135Arg) c.773T>G (p.Leu258Arg) c.596T>G (p.Leu199Arg) c.593T>G (p.Leu198Arg) c.425T>G (p.Leu142Arg) | |
| 11 | g.67490444C>A | CA475509312 | AIP | c.751C>A c.585C>A (p.Leu195=) n.1286C>A c.469-553C>A (n.469-553C>A) c.405C>A (p.Leu135=) c.774C>A (p.Leu258=) c.597C>A (p.Leu199=) c.594C>A (p.Leu198=) c.426C>A (p.Leu142=) | ClinVar gnomAD v4 |
| 11 | g.67490444C= | CA1980172466 | AIP | c.751C= c.585C= (p.Leu195=) n.1286C= c.469-553C= (n.469-553C=) c.405C= (p.Leu135=) c.774C= (p.Leu258=) c.597C= (p.Leu199=) c.594C= (p.Leu198=) c.426C= (p.Leu142=) | |
| 11 | g.67490444C>G | CA475509313 | AIP | c.751C>G c.585C>G (p.Leu195=) n.1286C>G c.469-553C>G (n.469-553C>G) c.405C>G (p.Leu135=) c.774C>G (p.Leu258=) c.597C>G (p.Leu199=) c.594C>G (p.Leu198=) c.426C>G (p.Leu142=) | |
| 11 | g.67490444C>T | CA224165448 | AIP | c.751C>T c.585C>T (p.Leu195=) n.1286C>T c.469-553C>T (n.469-553C>T) c.405C>T (p.Leu135=) c.774C>T (p.Leu258=) c.597C>T (p.Leu199=) c.594C>T (p.Leu198=) c.426C>T (p.Leu142=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490445A= | CA1980172467 | AIP | c.752A= c.586A= (p.Asn196=) n.1287A= c.469-552A= (n.469-552A=) c.406A= (p.Asn136=) c.775A= (p.Asn259=) c.598A= (p.Asn200=) c.595A= (p.Asn199=) c.427A= (p.Asn143=) | |
| 11 | g.67490445A>C | CA381551929 | AIP | c.752A>C c.586A>C (p.Asn196His) n.1287A>C c.469-552A>C (n.469-552A>C) c.406A>C (p.Asn136His) c.775A>C (p.Asn259His) c.598A>C (p.Asn200His) c.595A>C (p.Asn199His) c.427A>C (p.Asn143His) | |
| 11 | g.67490445A>G | CA381551930 | AIP | c.752A>G c.586A>G (p.Asn196Asp) n.1287A>G c.469-552A>G (n.469-552A>G) c.406A>G (p.Asn136Asp) c.775A>G (p.Asn259Asp) c.598A>G (p.Asn200Asp) c.595A>G (p.Asn199Asp) c.427A>G (p.Asn143Asp) | dbSNP gnomAD v4 |
| 11 | g.67490445A>T | CA381551931 | AIP | c.752A>T c.586A>T (p.Asn196Tyr) n.1287A>T c.469-552A>T (n.469-552A>T) c.406A>T (p.Asn136Tyr) c.775A>T (p.Asn259Tyr) c.598A>T (p.Asn200Tyr) c.595A>T (p.Asn199Tyr) c.427A>T (p.Asn143Tyr) | |
| 11 | g.67490446A>C | CA381551934 | AIP | c.753A>C c.587A>C (p.Asn196Thr) n.1288A>C c.469-551A>C (n.469-551A>C) c.407A>C (p.Asn136Thr) c.776A>C (p.Asn259Thr) c.599A>C (p.Asn200Thr) c.596A>C (p.Asn199Thr) c.428A>C (p.Asn143Thr) | |
| 11 | g.67490446A>G | CA381551933 | AIP | c.753A>G c.587A>G (p.Asn196Ser) n.1288A>G c.469-551A>G (n.469-551A>G) c.407A>G (p.Asn136Ser) c.776A>G (p.Asn259Ser) c.599A>G (p.Asn200Ser) c.596A>G (p.Asn199Ser) c.428A>G (p.Asn143Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490446A>T | CA381551932 | AIP | c.753A>T c.587A>T (p.Asn196Ile) n.1288A>T c.469-551A>T (n.469-551A>T) c.407A>T (p.Asn136Ile) c.776A>T (p.Asn259Ile) c.599A>T (p.Asn200Ile) c.596A>T (p.Asn199Ile) c.428A>T (p.Asn143Ile) | |
| 11 | g.67490447C>A | CA381551935 | AIP | c.754C>A c.588C>A (p.Asn196Lys) n.1289C>A c.469-550C>A (n.469-550C>A) c.408C>A (p.Asn136Lys) c.777C>A (p.Asn259Lys) c.600C>A (p.Asn200Lys) c.597C>A (p.Asn199Lys) c.429C>A (p.Asn143Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490447C= | CA1980172468 | AIP | c.754C= c.588C= (p.Asn196=) n.1289C= c.469-550C= (n.469-550C=) c.408C= (p.Asn136=) c.777C= (p.Asn259=) c.600C= (p.Asn200=) c.597C= (p.Asn199=) c.429C= (p.Asn143=) | |
| 11 | g.67490447C>G | CA381551936 | AIP | c.754C>G c.588C>G (p.Asn196Lys) n.1289C>G c.469-550C>G (n.469-550C>G) c.408C>G (p.Asn136Lys) c.777C>G (p.Asn259Lys) c.600C>G (p.Asn200Lys) c.597C>G (p.Asn199Lys) c.429C>G (p.Asn143Lys) | ClinVar |
| 11 | g.67490447C>T | CA475509318 | AIP | c.754C>T c.588C>T (p.Asn196=) n.1289C>T c.469-550C>T (n.469-550C>T) c.408C>T (p.Asn136=) c.777C>T (p.Asn259=) c.600C>T (p.Asn200=) c.597C>T (p.Asn199=) c.429C>T (p.Asn143=) | ClinVar gnomAD v4 |
| 11 | g.67490448A>C | CA381551937 | AIP | c.755A>C c.589A>C (p.Lys197Gln) n.1290A>C c.469-549A>C (n.469-549A>C) c.409A>C (p.Lys137Gln) c.778A>C (p.Lys260Gln) c.601A>C (p.Lys201Gln) c.598A>C (p.Lys200Gln) c.430A>C (p.Lys144Gln) | |
| 11 | g.67490448A>G | CA381551938 | AIP | c.755A>G c.589A>G (p.Lys197Glu) n.1290A>G c.469-549A>G (n.469-549A>G) c.409A>G (p.Lys137Glu) c.778A>G (p.Lys260Glu) c.601A>G (p.Lys201Glu) c.598A>G (p.Lys200Glu) c.430A>G (p.Lys144Glu) | |
| 11 | g.67490448A>T | CA381551939 | AIP | c.755A>T c.589A>T (p.Lys197Ter) n.1290A>T c.469-549A>T (n.469-549A>T) c.409A>T (p.Lys137Ter) c.778A>T (p.Lys260Ter) c.601A>T (p.Lys201Ter) c.598A>T (p.Lys200Ter) c.430A>T (p.Lys144Ter) | |
| 11 | g.67490449del | CA2695214806 | AIP | c.756del c.590del (p.Lys197SerfsTer?) n.1291del c.469-548del (n.469-548del) c.410del (p.Lys137SerfsTer?) c.779del (p.Lys260SerfsTer?) c.779del (p.Lys260AsnfsTer?) c.602del (p.Lys201SerfsTer?) c.599del (p.Lys200SerfsTer?) c.431del (p.Lys144SerfsTer?) | |
| 11 | g.67490449A>C | CA381551940 | AIP | c.756A>C c.590A>C (p.Lys197Thr) n.1291A>C c.469-548A>C (n.469-548A>C) c.410A>C (p.Lys137Thr) c.779A>C (p.Lys260Thr) c.602A>C (p.Lys201Thr) c.599A>C (p.Lys200Thr) c.431A>C (p.Lys144Thr) | |
| 11 | g.67490449A>G | CA381551941 | AIP | c.756A>G c.590A>G (p.Lys197Arg) n.1291A>G c.469-548A>G (n.469-548A>G) c.410A>G (p.Lys137Arg) c.779A>G (p.Lys260Arg) c.602A>G (p.Lys201Arg) c.599A>G (p.Lys200Arg) c.431A>G (p.Lys144Arg) | |
| 11 | g.67490449A>T | CA381551942 | AIP | c.756A>T c.590A>T (p.Lys197Met) n.1291A>T c.469-548A>T (n.469-548A>T) c.410A>T (p.Lys137Met) c.779A>T (p.Lys260Met) c.779A>T (p.Lys260Ile) c.602A>T (p.Lys201Met) c.599A>T (p.Lys200Met) c.431A>T (p.Lys144Met) | |
| 11 | g.67490450G>A | CA475509320 | AIP | c.757G>A c.591G>A (p.Lys197=) n.1292G>A c.469-547G>A (n.469-547G>A) c.411G>A (p.Lys137=) c.780G>A (p.Lys260=) c.779+1G>A (n.779+1G>A) c.603G>A (p.Lys201=) c.600G>A (p.Lys200=) c.432G>A (p.Lys144=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490450G>C | CA6140933 | AIP | c.757G>C c.591G>C (p.Lys197Asn) n.1292G>C c.469-547G>C (n.469-547G>C) c.411G>C (p.Lys137Asn) c.780G>C (p.Lys260Asn) c.779+1G>C (n.779+1G>C) c.603G>C (p.Lys201Asn) c.600G>C (p.Lys200Asn) c.432G>C (p.Lys144Asn) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.67490450G= | CA1980172469 | AIP | c.757G= c.591G= (p.Lys197=) n.1292G= c.469-547G= (n.469-547G=) c.411G= (p.Lys137=) c.780G= (p.Lys260=) c.779+1G= (n.779+1G=) c.603G= (p.Lys201=) c.600G= (p.Lys200=) c.432G= (p.Lys144=) | |
| 11 | g.67490450G>T | CA381551943 | AIP | c.757G>T c.591G>T (p.Lys197Asn) n.1292G>T c.469-547G>T (n.469-547G>T) c.411G>T (p.Lys137Asn) c.780G>T (p.Lys260Asn) c.779+1G>T (n.779+1G>T) c.603G>T (p.Lys201Asn) c.600G>T (p.Lys200Asn) c.432G>T (p.Lys144Asn) | |
| 11 | g.67490451T>A | CA381551944 | AIP | c.758T>A c.592T>A (p.Tyr198Asn) n.1293T>A c.469-546T>A (n.469-546T>A) c.412T>A (p.Tyr138Asn) c.781T>A (p.Tyr261Asn) c.779+2T>A (n.779+2T>A) c.604T>A (p.Tyr202Asn) c.601T>A (p.Tyr201Asn) c.433T>A (p.Tyr145Asn) | |
| 11 | g.67490451T>C | CA381551945 | AIP | c.758T>C c.592T>C (p.Tyr198His) n.1293T>C c.469-546T>C (n.469-546T>C) c.412T>C (p.Tyr138His) c.781T>C (p.Tyr261His) c.779+2T>C (n.779+2T>C) c.604T>C (p.Tyr202His) c.601T>C (p.Tyr201His) c.433T>C (p.Tyr145His) | gnomAD v4 COSMIC |
| 11 | g.67490451T>G | CA381551946 | AIP | c.758T>G c.592T>G (p.Tyr198Asp) n.1293T>G c.469-546T>G (n.469-546T>G) c.412T>G (p.Tyr138Asp) c.781T>G (p.Tyr261Asp) c.779+2T>G (n.779+2T>G) c.604T>G (p.Tyr202Asp) c.601T>G (p.Tyr201Asp) c.433T>G (p.Tyr145Asp) | |
| 11 | g.67490451_67490454delinsTACG | CA1980172470 | AIP | c.758_761delinsTACG c.592_595delinsTACG (p.Tyr198=) n.1293_1296delinsTACG c.469-546_469-543delinsTACG (n.469-546_469-543delinsTACG) c.412_415delinsTACG (p.Tyr138=) c.781_784delinsTACG (p.Tyr261=) c.779+2_779+5delinsTACG (n.779+2_779+5delinsTACG) c.604_607delinsTACG (p.Tyr202=) c.601_604delinsTACG (p.Tyr201=) c.433_436delinsTACG (p.Tyr145=) | |
| 11 | g.67490452A= | CA1980172471 | AIP | c.759A= c.593A= (p.Tyr198=) n.1294A= c.469-545A= (n.469-545A=) c.413A= (p.Tyr138=) c.782A= (p.Tyr261=) c.779+3A= (n.779+3A=) c.605A= (p.Tyr202=) c.602A= (p.Tyr201=) c.434A= (p.Tyr145=) | |
| 11 | g.67490452A>C | CA381551948 | AIP | c.759A>C c.593A>C (p.Tyr198Ser) n.1294A>C c.469-545A>C (n.469-545A>C) c.413A>C (p.Tyr138Ser) c.782A>C (p.Tyr261Ser) c.779+3A>C (n.779+3A>C) c.605A>C (p.Tyr202Ser) c.602A>C (p.Tyr201Ser) c.434A>C (p.Tyr145Ser) |