Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219421532C>A | CA431284495 | DES | n.690C>A n.604C>A c.1216C>A (p.Arg406=) n.688C>A n.611C>A c.1213C>A (p.Arg405=) c.784C>A (p.Arg262=) c.1147C>A (p.Arg383=) c.1195C>A (p.Arg399=) c.946C>A (p.Arg316=) | gnomAD v4 |
2 | g.219421532C= | CA1329211340 | DES | n.690C= n.604C= c.1216C= (p.Arg406=) n.688C= n.611C= c.1213C= (p.Arg405=) c.784C= (p.Arg262=) c.1147C= (p.Arg383=) c.1195C= (p.Arg399=) c.946C= (p.Arg316=) | |
2 | g.219421532C>G | CA350695014 | DES | n.690C>G n.604C>G c.1216C>G (p.Arg406Gly) n.688C>G n.611C>G c.1213C>G (p.Arg405Gly) c.784C>G (p.Arg262Gly) c.1147C>G (p.Arg383Gly) c.1195C>G (p.Arg399Gly) c.946C>G (p.Arg316Gly) | |
2 | g.219421532C>T | CA257646 | DES | n.690C>T n.604C>T c.1216C>T (p.Arg406Trp) n.688C>T n.611C>T c.1213C>T (p.Arg405Trp) c.784C>T (p.Arg262Trp) c.1147C>T (p.Arg383Trp) c.1195C>T (p.Arg399Trp) c.946C>T (p.Arg316Trp) | ClinVar dbSNP |
2 | g.219421533G>A | CA16604146 | DES | n.691G>A n.605G>A c.1217G>A (p.Arg406Gln) n.689G>A n.612G>A c.1214G>A (p.Arg405Gln) c.785G>A (p.Arg262Gln) c.1148G>A (p.Arg383Gln) c.1196G>A (p.Arg399Gln) c.947G>A (p.Arg316Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219421533G>C | CA350695020 | DES | n.691G>C n.605G>C c.1217G>C (p.Arg406Pro) n.689G>C n.612G>C c.1214G>C (p.Arg405Pro) c.785G>C (p.Arg262Pro) c.1148G>C (p.Arg383Pro) c.1196G>C (p.Arg399Pro) c.947G>C (p.Arg316Pro) | ClinVar |
2 | g.219421533G= | CA1329211341 | DES | n.691G= n.605G= c.1217G= (p.Arg406=) n.689G= n.612G= c.1214G= (p.Arg405=) c.785G= (p.Arg262=) c.1148G= (p.Arg383=) c.1196G= (p.Arg399=) c.947G= (p.Arg316=) | |
2 | g.219421533G>T | CA350695018 | DES | n.691G>T n.605G>T c.1217G>T (p.Arg406Leu) n.689G>T n.612G>T c.1214G>T (p.Arg405Leu) c.785G>T (p.Arg262Leu) c.1148G>T (p.Arg383Leu) c.1196G>T (p.Arg399Leu) c.947G>T (p.Arg316Leu) | ClinVar dbSNP |
2 | g.219421534G>A | CA431284496 | DES | n.692G>A n.606G>A c.1218G>A (p.Arg406=) n.690G>A n.613G>A c.1215G>A (p.Arg405=) c.786G>A (p.Arg262=) c.1149G>A (p.Arg383=) c.1197G>A (p.Arg399=) c.948G>A (p.Arg316=) | |
2 | g.219421534G>C | CA431284497 | DES | n.692G>C n.606G>C c.1218G>C (p.Arg406=) n.690G>C n.613G>C c.1215G>C (p.Arg405=) c.786G>C (p.Arg262=) c.1149G>C (p.Arg383=) c.1197G>C (p.Arg399=) c.948G>C (p.Arg316=) | |
2 | g.219421534G>T | CA431284498 | DES | n.692G>T n.606G>T c.1218G>T (p.Arg406=) n.690G>T n.613G>T c.1215G>T (p.Arg405=) c.786G>T (p.Arg262=) c.1149G>T (p.Arg383=) c.1197G>T (p.Arg399=) c.948G>T (p.Arg316=) | |
2 | g.219421535A= | CA1329211342 | DES | n.693A= n.607A= c.1219A= (p.Lys407=) n.691A= n.614A= c.1216A= (p.Lys406=) c.787A= (p.Lys263=) c.1150A= (p.Lys384=) c.1198A= (p.Lys400=) c.949A= (p.Lys317=) | |
2 | g.219421535A>C | CA350695023 | DES | n.693A>C n.607A>C c.1219A>C (p.Lys407Gln) n.691A>C n.614A>C c.1216A>C (p.Lys406Gln) c.787A>C (p.Lys263Gln) c.1150A>C (p.Lys384Gln) c.1198A>C (p.Lys400Gln) c.949A>C (p.Lys317Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.219421535A>G | CA350695027 | DES | n.693A>G n.607A>G c.1219A>G (p.Lys407Glu) n.691A>G n.614A>G c.1216A>G (p.Lys406Glu) c.787A>G (p.Lys263Glu) c.1150A>G (p.Lys384Glu) c.1198A>G (p.Lys400Glu) c.949A>G (p.Lys317Glu) | |
2 | g.219421535A>T | CA350695025 | DES | n.693A>T n.607A>T c.1219A>T (p.Lys407Ter) n.691A>T n.614A>T c.1216A>T (p.Lys406Ter) c.787A>T (p.Lys263Ter) c.1150A>T (p.Lys384Ter) c.1198A>T (p.Lys400Ter) c.949A>T (p.Lys317Ter) | |
2 | g.219421536A>C | CA350695029 | DES | n.694A>C n.608A>C c.1220A>C (p.Lys407Thr) n.692A>C n.615A>C c.1217A>C (p.Lys406Thr) c.788A>C (p.Lys263Thr) c.1151A>C (p.Lys384Thr) c.1199A>C (p.Lys400Thr) c.950A>C (p.Lys317Thr) | |
2 | g.219421536A>G | CA350695033 | DES | n.694A>G n.608A>G c.1220A>G (p.Lys407Arg) n.692A>G n.615A>G c.1217A>G (p.Lys406Arg) c.788A>G (p.Lys263Arg) c.1151A>G (p.Lys384Arg) c.1199A>G (p.Lys400Arg) c.950A>G (p.Lys317Arg) | |
2 | g.219421536A>T | CA350695031 | DES | n.694A>T n.608A>T c.1220A>T (p.Lys407Met) n.692A>T n.615A>T c.1217A>T (p.Lys406Met) c.788A>T (p.Lys263Met) c.1151A>T (p.Lys384Met) c.1199A>T (p.Lys400Met) c.950A>T (p.Lys317Met) | |
2 | g.219421537G>A | CA431284499 | DES | n.695G>A n.609G>A c.1221G>A (p.Lys407=) n.693G>A n.616G>A c.1218G>A (p.Lys406=) c.789G>A (p.Lys263=) c.1152G>A (p.Lys384=) c.1200G>A (p.Lys400=) c.951G>A (p.Lys317=) | |
2 | g.219421537G>C | CA350695036 | DES | n.695G>C n.609G>C c.1221G>C (p.Lys407Asn) n.693G>C n.616G>C c.1218G>C (p.Lys406Asn) c.789G>C (p.Lys263Asn) c.1152G>C (p.Lys384Asn) c.1200G>C (p.Lys400Asn) c.951G>C (p.Lys317Asn) | |
2 | g.219421537G>T | CA350695037 | DES | n.695G>T n.609G>T c.1221G>T (p.Lys407Asn) n.693G>T n.616G>T c.1218G>T (p.Lys406Asn) c.789G>T (p.Lys263Asn) c.1152G>T (p.Lys384Asn) c.1200G>T (p.Lys400Asn) c.951G>T (p.Lys317Asn) | |
2 | g.219421538C>A | CA350695039 | DES | n.696C>A n.610C>A c.1222C>A (p.Leu408Met) n.694C>A n.617C>A c.1219C>A (p.Leu407Met) c.790C>A (p.Leu264Met) c.1153C>A (p.Leu385Met) c.1201C>A (p.Leu401Met) c.952C>A (p.Leu318Met) | |
2 | g.219421538C>G | CA350695040 | DES | n.696C>G n.610C>G c.1222C>G (p.Leu408Val) n.694C>G n.617C>G c.1219C>G (p.Leu407Val) c.790C>G (p.Leu264Val) c.1153C>G (p.Leu385Val) c.1201C>G (p.Leu401Val) c.952C>G (p.Leu318Val) | |
2 | g.219421538C>T | CA431284500 | DES | n.696C>T n.610C>T c.1222C>T (p.Leu408=) n.694C>T n.617C>T c.1219C>T (p.Leu407=) c.790C>T (p.Leu264=) c.1153C>T (p.Leu385=) c.1201C>T (p.Leu401=) c.952C>T (p.Leu318=) | |
2 | g.219421538_219421539delinsCT | CA1329211343 | DES | n.696_697delinsCT n.610_611delinsCT c.1222_1223delinsCT (p.Leu408=) n.694_695delinsCT n.617_618delinsCT c.1219_1220delinsCT (p.Leu407=) c.790_791delinsCT (p.Leu264=) c.1153_1154delinsCT (p.Leu385=) c.1201_1202delinsCT (p.Leu401=) c.952_953delinsCT (p.Leu318=) | |
2 | g.219421539del | CA10602840 | DES | n.697del n.611del c.1223del (p.Leu408ArgfsTer?) n.695del n.618del c.1220del (p.Leu407ArgfsTer?) c.791del (p.Leu264ArgfsTer?) c.1154del (p.Leu385ArgfsTer?) c.1202del (p.Leu401ArgfsTer?) c.953del (p.Leu318ArgfsTer?) | ClinVar dbSNP |
2 | g.219421539T>A | CA350695043 | DES | n.697T>A n.611T>A c.1223T>A (p.Leu408Gln) n.695T>A n.618T>A c.1220T>A (p.Leu407Gln) c.791T>A (p.Leu264Gln) c.1154T>A (p.Leu385Gln) c.1202T>A (p.Leu401Gln) c.953T>A (p.Leu318Gln) | |
2 | g.219421539T>C | CA350695045 | DES | n.697T>C n.611T>C c.1223T>C (p.Leu408Pro) n.695T>C n.618T>C c.1220T>C (p.Leu407Pro) c.791T>C (p.Leu264Pro) c.1154T>C (p.Leu385Pro) c.1202T>C (p.Leu401Pro) c.953T>C (p.Leu318Pro) | |
2 | g.219421539T>G | CA350695047 | DES | n.697T>G n.611T>G c.1223T>G (p.Leu408Arg) n.695T>G n.618T>G c.1220T>G (p.Leu407Arg) c.791T>G (p.Leu264Arg) c.1154T>G (p.Leu385Arg) c.1202T>G (p.Leu401Arg) c.953T>G (p.Leu318Arg) | |
2 | g.219421540G>A | CA431284503 | DES | n.698G>A n.612G>A c.1224G>A (p.Leu408=) n.696G>A n.619G>A c.1221G>A (p.Leu407=) c.792G>A (p.Leu264=) c.1155G>A (p.Leu385=) c.1203G>A (p.Leu401=) c.954G>A (p.Leu318=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219421540G>C | CA431284501 | DES | n.698G>C n.612G>C c.1224G>C (p.Leu408=) n.696G>C n.619G>C c.1221G>C (p.Leu407=) c.792G>C (p.Leu264=) c.1155G>C (p.Leu385=) c.1203G>C (p.Leu401=) c.954G>C (p.Leu318=) | |
2 | g.219421540G= | CA1329211344 | DES | n.698G= n.612G= c.1224G= (p.Leu408=) n.696G= n.619G= c.1221G= (p.Leu407=) c.792G= (p.Leu264=) c.1155G= (p.Leu385=) c.1203G= (p.Leu401=) c.954G= (p.Leu318=) | |
2 | g.219421540G>T | CA431284502 | DES | n.698G>T n.612G>T c.1224G>T (p.Leu408=) n.696G>T n.619G>T c.1221G>T (p.Leu407=) c.792G>T (p.Leu264=) c.1155G>T (p.Leu385=) c.1203G>T (p.Leu401=) c.954G>T (p.Leu318=) | |
2 | g.219421541C>A | CA350695050 | DES | n.699C>A n.613C>A c.1225C>A (p.Leu409Met) n.697C>A n.620C>A c.1222C>A (p.Leu408Met) c.793C>A (p.Leu265Met) c.1156C>A (p.Leu386Met) c.1204C>A (p.Leu402Met) c.955C>A (p.Leu319Met) | |
2 | g.219421541C>G | CA350695052 | DES | n.699C>G n.613C>G c.1225C>G (p.Leu409Val) n.697C>G n.620C>G c.1222C>G (p.Leu408Val) c.793C>G (p.Leu265Val) c.1156C>G (p.Leu386Val) c.1204C>G (p.Leu402Val) c.955C>G (p.Leu319Val) | |
2 | g.219421541C>T | CA431284504 | DES | n.699C>T n.613C>T c.1225C>T (p.Leu409=) n.697C>T n.620C>T c.1222C>T (p.Leu408=) c.793C>T (p.Leu265=) c.1156C>T (p.Leu386=) c.1204C>T (p.Leu402=) c.955C>T (p.Leu319=) | |
2 | g.219421542T>A | CA350695054 | DES | n.700T>A n.614T>A c.1226T>A (p.Leu409Gln) n.698T>A n.621T>A c.1223T>A (p.Leu408Gln) c.794T>A (p.Leu265Gln) c.1157T>A (p.Leu386Gln) c.1205T>A (p.Leu402Gln) c.956T>A (p.Leu319Gln) | |
2 | g.219421542T>C | CA133817 | DES | n.700T>C n.614T>C c.1226T>C (p.Leu409Pro) n.698T>C n.621T>C c.1223T>C (p.Leu408Pro) c.794T>C (p.Leu265Pro) c.1157T>C (p.Leu386Pro) c.1205T>C (p.Leu402Pro) c.956T>C (p.Leu319Pro) | ClinVar dbSNP |
2 | g.219421542T>G | CA350695055 | DES | n.700T>G n.614T>G c.1226T>G (p.Leu409Arg) n.698T>G n.621T>G c.1223T>G (p.Leu408Arg) c.794T>G (p.Leu265Arg) c.1157T>G (p.Leu386Arg) c.1205T>G (p.Leu402Arg) c.956T>G (p.Leu319Arg) | |
2 | g.219421542T= | CA1329211345 | DES | n.700T= n.614T= c.1226T= (p.Leu409=) n.698T= n.621T= c.1223T= (p.Leu408=) c.794T= (p.Leu265=) c.1157T= (p.Leu386=) c.1205T= (p.Leu402=) c.956T= (p.Leu319=) | |
2 | g.219421543G>A | CA2125256 | DES | n.701G>A n.615G>A c.1227G>A (p.Leu409=) n.699G>A n.622G>A c.1224G>A (p.Leu408=) c.795G>A (p.Leu265=) c.1158G>A (p.Leu386=) c.1206G>A (p.Leu402=) c.957G>A (p.Leu319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219421543G>C | CA431284505 | DES | n.701G>C n.615G>C c.1227G>C (p.Leu409=) n.699G>C n.622G>C c.1224G>C (p.Leu408=) c.795G>C (p.Leu265=) c.1158G>C (p.Leu386=) c.1206G>C (p.Leu402=) c.957G>C (p.Leu319=) | |
2 | g.219421543G= | CA1329211346 | DES | n.701G= n.615G= c.1227G= (p.Leu409=) n.699G= n.622G= c.1224G= (p.Leu408=) c.795G= (p.Leu265=) c.1158G= (p.Leu386=) c.1206G= (p.Leu402=) c.957G= (p.Leu319=) | |
2 | g.219421543G>T | CA431284506 | DES | n.701G>T n.615G>T c.1227G>T (p.Leu409=) n.699G>T n.622G>T c.1224G>T (p.Leu408=) c.795G>T (p.Leu265=) c.1158G>T (p.Leu386=) c.1206G>T (p.Leu402=) c.957G>T (p.Leu319=) | ClinVar dbSNP gnomAD v4 |
2 | g.219421544G>A | CA350695060 | DES | n.702G>A n.616G>A c.1228G>A (p.Glu410Lys) n.700G>A n.623G>A c.1225G>A (p.Glu409Lys) c.796G>A (p.Glu266Lys) c.1159G>A (p.Glu387Lys) c.1207G>A (p.Glu403Lys) c.958G>A (p.Glu320Lys) | ClinVar dbSNP COSMIC |
2 | g.219421544G>C | CA350695062 | DES | n.702G>C n.616G>C c.1228G>C (p.Glu410Gln) n.700G>C n.623G>C c.1225G>C (p.Glu409Gln) c.796G>C (p.Glu266Gln) c.1159G>C (p.Glu387Gln) c.1207G>C (p.Glu403Gln) c.958G>C (p.Glu320Gln) | |
2 | g.219421544G>T | CA350695063 | DES | n.702G>T n.616G>T c.1228G>T (p.Glu410Ter) n.700G>T n.623G>T c.1225G>T (p.Glu409Ter) c.796G>T (p.Glu266Ter) c.1159G>T (p.Glu387Ter) c.1207G>T (p.Glu403Ter) c.958G>T (p.Glu320Ter) | |
2 | g.219421545A>C | CA350695066 | DES | n.703A>C n.617A>C c.1229A>C (p.Glu410Ala) n.701A>C n.624A>C c.1226A>C (p.Glu409Ala) c.797A>C (p.Glu266Ala) c.1160A>C (p.Glu387Ala) c.1208A>C (p.Glu403Ala) c.959A>C (p.Glu320Ala) | |
2 | g.219421545A>G | CA350695067 | DES | n.703A>G n.617A>G c.1229A>G (p.Glu410Gly) n.701A>G n.624A>G c.1226A>G (p.Glu409Gly) c.797A>G (p.Glu266Gly) c.1160A>G (p.Glu387Gly) c.1208A>G (p.Glu403Gly) c.959A>G (p.Glu320Gly) | |
2 | g.219421545A>T | CA350695069 | DES | n.703A>T n.617A>T c.1229A>T (p.Glu410Val) n.701A>T n.624A>T c.1226A>T (p.Glu409Val) c.797A>T (p.Glu266Val) c.1160A>T (p.Glu387Val) c.1208A>T (p.Glu403Val) c.959A>T (p.Glu320Val) |