| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490316G>A | CA381551465 | AIP | c.623G>A c.457G>A (p.Glu153Lys) n.1158G>A c.469-681G>A (n.469-681G>A) c.277G>A (p.Glu93Lys) c.646G>A (p.Glu216Lys) c.469G>A (p.Glu157Lys) c.466G>A (p.Glu156Lys) c.298G>A (p.Glu100Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490316G>C | CA381551466 | AIP | c.623G>C c.457G>C (p.Glu153Gln) n.1158G>C c.469-681G>C (n.469-681G>C) c.277G>C (p.Glu93Gln) c.646G>C (p.Glu216Gln) c.469G>C (p.Glu157Gln) c.466G>C (p.Glu156Gln) c.298G>C (p.Glu100Gln) | |
| 11 | g.67490316G= | CA1980172403 | AIP | c.623G= c.457G= (p.Glu153=) n.1158G= c.469-681G= (n.469-681G=) c.277G= (p.Glu93=) c.646G= (p.Glu216=) c.469G= (p.Glu157=) c.466G= (p.Glu156=) c.298G= (p.Glu100=) | |
| 11 | g.67490316G>T | CA344142 | AIP | c.623G>T c.457G>T (p.Glu153Ter) n.1158G>T c.469-681G>T (n.469-681G>T) c.277G>T (p.Glu93Ter) c.646G>T (p.Glu216Ter) c.469G>T (p.Glu157Ter) c.466G>T (p.Glu156Ter) c.298G>T (p.Glu100Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490317A>C | CA381551469 | AIP | c.624A>C c.458A>C (p.Glu153Ala) n.1159A>C c.469-680A>C (n.469-680A>C) c.278A>C (p.Glu93Ala) c.647A>C (p.Glu216Ala) c.470A>C (p.Glu157Ala) c.467A>C (p.Glu156Ala) c.299A>C (p.Glu100Ala) | |
| 11 | g.67490317A>G | CA381551468 | AIP | c.624A>G c.458A>G (p.Glu153Gly) n.1159A>G c.469-680A>G (n.469-680A>G) c.278A>G (p.Glu93Gly) c.647A>G (p.Glu216Gly) c.470A>G (p.Glu157Gly) c.467A>G (p.Glu156Gly) c.299A>G (p.Glu100Gly) | |
| 11 | g.67490317A>T | CA381551467 | AIP | c.624A>T c.458A>T (p.Glu153Val) n.1159A>T c.469-680A>T (n.469-680A>T) c.278A>T (p.Glu93Val) c.647A>T (p.Glu216Val) c.470A>T (p.Glu157Val) c.467A>T (p.Glu156Val) c.299A>T (p.Glu100Val) | |
| 11 | g.67490318A>C | CA381551470 | AIP | c.625A>C c.459A>C (p.Glu153Asp) n.1160A>C c.469-679A>C (n.469-679A>C) c.279A>C (p.Glu93Asp) c.648A>C (p.Glu216Asp) c.471A>C (p.Glu157Asp) c.468A>C (p.Glu156Asp) c.300A>C (p.Glu100Asp) | |
| 11 | g.67490318A>G | CA475509176 | AIP | c.625A>G c.459A>G (p.Glu153=) n.1160A>G c.469-679A>G (n.469-679A>G) c.279A>G (p.Glu93=) c.648A>G (p.Glu216=) c.471A>G (p.Glu157=) c.468A>G (p.Glu156=) c.300A>G (p.Glu100=) | |
| 11 | g.67490318A>T | CA381551471 | AIP | c.625A>T c.459A>T (p.Glu153Asp) n.1160A>T c.469-679A>T (n.469-679A>T) c.279A>T (p.Glu93Asp) c.648A>T (p.Glu216Asp) c.471A>T (p.Glu157Asp) c.468A>T (p.Glu156Asp) c.300A>T (p.Glu100Asp) | |
| 11 | g.67490319C>A | CA381551472 | AIP | c.626C>A c.460C>A (p.Gln154Lys) n.1161C>A c.469-678C>A (n.469-678C>A) c.280C>A (p.Gln94Lys) c.649C>A (p.Gln217Lys) c.472C>A (p.Gln158Lys) c.469C>A (p.Gln157Lys) c.301C>A (p.Gln101Lys) | ClinVar |
| 11 | g.67490319C= | CA1980172404 | AIP | c.626C= c.460C= (p.Gln154=) n.1161C= c.469-678C= (n.469-678C=) c.280C= (p.Gln94=) c.649C= (p.Gln217=) c.472C= (p.Gln158=) c.469C= (p.Gln157=) c.301C= (p.Gln101=) | |
| 11 | g.67490319C>G | CA381551473 | AIP | c.626C>G c.460C>G (p.Gln154Glu) n.1161C>G c.469-678C>G (n.469-678C>G) c.280C>G (p.Gln94Glu) c.649C>G (p.Gln217Glu) c.472C>G (p.Gln158Glu) c.469C>G (p.Gln157Glu) c.301C>G (p.Gln101Glu) | |
| 11 | g.67490319C>T | CA344146 | AIP | c.626C>T c.460C>T (p.Gln154Ter) n.1161C>T c.469-678C>T (n.469-678C>T) c.280C>T (p.Gln94Ter) c.649C>T (p.Gln217Ter) c.472C>T (p.Gln158Ter) c.469C>T (p.Gln157Ter) c.301C>T (p.Gln101Ter) | ClinVar dbSNP |
| 11 | g.67490320_67490322dup | CA2614623597 | AIP | c.627_629dup c.461_463dup (p.Gln154_Pro155insGln) n.1162_1164dup c.469-677_469-675dup (n.469-677_469-675dup) c.281_283dup (p.Gln94_Pro95insGln) c.650_652dup (p.Gln217_Pro218insGln) c.473_475dup (p.Gln158_Pro159insGln) c.470_472dup (p.Gln157_Pro158insGln) c.302_304dup (p.Gln101_Pro102insGln) | gnomAD v4 |
| 11 | g.67490320A= | CA1980172405 | AIP | c.627A= c.461A= (p.Gln154=) n.1162A= c.469-677A= (n.469-677A=) c.281A= (p.Gln94=) c.650A= (p.Gln217=) c.473A= (p.Gln158=) c.470A= (p.Gln157=) c.302A= (p.Gln101=) | |
| 11 | g.67490320A>C | CA381551474 | AIP | c.627A>C c.461A>C (p.Gln154Pro) n.1162A>C c.469-677A>C (n.469-677A>C) c.281A>C (p.Gln94Pro) c.650A>C (p.Gln217Pro) c.473A>C (p.Gln158Pro) c.470A>C (p.Gln157Pro) c.302A>C (p.Gln101Pro) | |
| 11 | g.67490320A>G | CA381551475 | AIP | c.627A>G c.461A>G (p.Gln154Arg) n.1162A>G c.469-677A>G (n.469-677A>G) c.281A>G (p.Gln94Arg) c.650A>G (p.Gln217Arg) c.473A>G (p.Gln158Arg) c.470A>G (p.Gln157Arg) c.302A>G (p.Gln101Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490320A>T | CA381551476 | AIP | c.627A>T c.461A>T (p.Gln154Leu) n.1162A>T c.469-677A>T (n.469-677A>T) c.281A>T (p.Gln94Leu) c.650A>T (p.Gln217Leu) c.473A>T (p.Gln158Leu) c.470A>T (p.Gln157Leu) c.302A>T (p.Gln101Leu) | |
| 11 | g.67490321G>A | CA475509178 | AIP | c.628G>A c.462G>A (p.Gln154=) n.1163G>A c.469-676G>A (n.469-676G>A) c.282G>A (p.Gln94=) c.651G>A (p.Gln217=) c.474G>A (p.Gln158=) c.471G>A (p.Gln157=) c.303G>A (p.Gln101=) | ClinVar |
| 11 | g.67490321G>C | CA381551477 | AIP | c.628G>C c.462G>C (p.Gln154His) n.1163G>C c.469-676G>C (n.469-676G>C) c.282G>C (p.Gln94His) c.651G>C (p.Gln217His) c.474G>C (p.Gln158His) c.471G>C (p.Gln157His) c.303G>C (p.Gln101His) | ClinVar dbSNP |
| 11 | g.67490321G>T | CA381551478 | AIP | c.628G>T c.462G>T (p.Gln154His) n.1163G>T c.469-676G>T (n.469-676G>T) c.282G>T (p.Gln94His) c.651G>T (p.Gln217His) c.474G>T (p.Gln158His) c.471G>T (p.Gln157His) c.303G>T (p.Gln101His) | gnomAD v4 |
| 11 | g.67490322C>A | CA381551479 | AIP | c.629C>A c.463C>A (p.Pro155Thr) n.1164C>A c.469-675C>A (n.469-675C>A) c.283C>A (p.Pro95Thr) c.652C>A (p.Pro218Thr) c.475C>A (p.Pro159Thr) c.472C>A (p.Pro158Thr) c.304C>A (p.Pro102Thr) | |
| 11 | g.67490322C>G | CA381551480 | AIP | c.629C>G c.463C>G (p.Pro155Ala) n.1164C>G c.469-675C>G (n.469-675C>G) c.283C>G (p.Pro95Ala) c.652C>G (p.Pro218Ala) c.475C>G (p.Pro159Ala) c.472C>G (p.Pro158Ala) c.304C>G (p.Pro102Ala) | |
| 11 | g.67490322C>T | CA381551481 | AIP | c.629C>T c.463C>T (p.Pro155Ser) n.1164C>T c.469-675C>T (n.469-675C>T) c.283C>T (p.Pro95Ser) c.652C>T (p.Pro218Ser) c.475C>T (p.Pro159Ser) c.472C>T (p.Pro158Ser) c.304C>T (p.Pro102Ser) | |
| 11 | g.67490323C>A | CA381551484 | AIP | c.630C>A c.464C>A (p.Pro155His) n.1165C>A c.469-674C>A (n.469-674C>A) c.284C>A (p.Pro95His) c.653C>A (p.Pro218His) c.476C>A (p.Pro159His) c.473C>A (p.Pro158His) c.305C>A (p.Pro102His) | |
| 11 | g.67490323C>G | CA381551482 | AIP | c.630C>G c.464C>G (p.Pro155Arg) n.1165C>G c.469-674C>G (n.469-674C>G) c.284C>G (p.Pro95Arg) c.653C>G (p.Pro218Arg) c.476C>G (p.Pro159Arg) c.473C>G (p.Pro158Arg) c.305C>G (p.Pro102Arg) | |
| 11 | g.67490323C>T | CA381551483 | AIP | c.630C>T c.464C>T (p.Pro155Leu) n.1165C>T c.469-674C>T (n.469-674C>T) c.284C>T (p.Pro95Leu) c.653C>T (p.Pro218Leu) c.476C>T (p.Pro159Leu) c.473C>T (p.Pro158Leu) c.305C>T (p.Pro102Leu) | |
| 11 | g.67490324T>A | CA475509180 | AIP | c.631T>A c.465T>A (p.Pro155=) n.1166T>A c.469-673T>A (n.469-673T>A) c.285T>A (p.Pro95=) c.654T>A (p.Pro218=) c.477T>A (p.Pro159=) c.474T>A (p.Pro158=) c.306T>A (p.Pro102=) | |
| 11 | g.67490324T>C | CA475509181 | AIP | c.631T>C c.465T>C (p.Pro155=) n.1166T>C c.469-673T>C (n.469-673T>C) c.285T>C (p.Pro95=) c.654T>C (p.Pro218=) c.477T>C (p.Pro159=) c.474T>C (p.Pro158=) c.306T>C (p.Pro102=) | |
| 11 | g.67490324T>G | CA475509182 | AIP | c.631T>G c.465T>G (p.Pro155=) n.1166T>G c.469-673T>G (n.469-673T>G) c.285T>G (p.Pro95=) c.654T>G (p.Pro218=) c.477T>G (p.Pro159=) c.474T>G (p.Pro158=) c.306T>G (p.Pro102=) | |
| 11 | g.67490325G>A | CA381551485 | AIP | c.632G>A c.466G>A (p.Gly156Arg) n.1167G>A c.469-672G>A (n.469-672G>A) c.286G>A (p.Gly96Arg) c.655G>A (p.Gly219Arg) c.478G>A (p.Gly160Arg) c.475G>A (p.Gly159Arg) c.307G>A (p.Gly103Arg) | |
| 11 | g.67490325G>C | CA381551486 | AIP | c.632G>C c.466G>C (p.Gly156Arg) n.1167G>C c.469-672G>C (n.469-672G>C) c.286G>C (p.Gly96Arg) c.655G>C (p.Gly219Arg) c.478G>C (p.Gly160Arg) c.475G>C (p.Gly159Arg) c.307G>C (p.Gly103Arg) | |
| 11 | g.67490325G>T | CA381551487 | AIP | c.632G>T c.466G>T (p.Gly156Trp) n.1167G>T c.469-672G>T (n.469-672G>T) c.286G>T (p.Gly96Trp) c.655G>T (p.Gly219Trp) c.478G>T (p.Gly160Trp) c.475G>T (p.Gly159Trp) c.307G>T (p.Gly103Trp) | |
| 11 | g.67490326G>A | CA381551488 | AIP | c.633G>A c.467G>A (p.Gly156Glu) n.1168G>A c.469-671G>A (n.469-671G>A) c.287G>A (p.Gly96Glu) c.656G>A (p.Gly219Glu) c.479G>A (p.Gly160Glu) c.476G>A (p.Gly159Glu) c.308G>A (p.Gly103Glu) | |
| 11 | g.67490326G>C | CA381551489 | AIP | c.633G>C c.467G>C (p.Gly156Ala) n.1168G>C c.469-671G>C (n.469-671G>C) c.287G>C (p.Gly96Ala) c.656G>C (p.Gly219Ala) c.479G>C (p.Gly160Ala) c.476G>C (p.Gly159Ala) c.308G>C (p.Gly103Ala) | gnomAD v4 |
| 11 | g.67490326G>T | CA381551490 | AIP | c.633G>T c.467G>T (p.Gly156Val) n.1168G>T c.469-671G>T (n.469-671G>T) c.287G>T (p.Gly96Val) c.656G>T (p.Gly219Val) c.479G>T (p.Gly160Val) c.476G>T (p.Gly159Val) c.308G>T (p.Gly103Val) | COSMIC |
| 11 | g.67490327G>A | CA475509183 | AIP | c.634G>A c.468G>A (p.Gly156=) n.1169G>A c.469-670G>A (n.469-670G>A) c.288G>A (p.Gly96=) c.657G>A (p.Gly219=) c.480G>A (p.Gly160=) c.477G>A (p.Gly159=) c.309G>A (p.Gly103=) | |
| 11 | g.67490327G>C | CA475509184 | AIP | c.634G>C c.468G>C (p.Gly156=) n.1169G>C c.469-670G>C (n.469-670G>C) c.288G>C (p.Gly96=) c.657G>C (p.Gly219=) c.480G>C (p.Gly160=) c.477G>C (p.Gly159=) c.309G>C (p.Gly103=) | |
| 11 | g.67490327G>T | CA475509185 | AIP | c.634G>T c.468G>T (p.Gly156=) n.1169G>T c.469-670G>T (n.469-670G>T) c.288G>T (p.Gly96=) c.657G>T (p.Gly219=) c.480G>T (p.Gly160=) c.477G>T (p.Gly159=) c.309G>T (p.Gly103=) | ClinVar gnomAD v4 |
| 11 | g.67490328T>A | CA381551491 | AIP | c.635T>A c.469T>A (p.Ser157Thr) n.1170T>A c.469-669T>A (n.469-669T>A) c.289T>A (p.Ser97Thr) c.658T>A (p.Ser220Thr) c.481T>A (p.Ser161Thr) c.478T>A (p.Ser160Thr) c.310T>A (p.Ser104Thr) | |
| 11 | g.67490328T>C | CA381551492 | AIP | c.635T>C c.469T>C (p.Ser157Pro) n.1170T>C c.469-669T>C (n.469-669T>C) c.289T>C (p.Ser97Pro) c.658T>C (p.Ser220Pro) c.481T>C (p.Ser161Pro) c.478T>C (p.Ser160Pro) c.310T>C (p.Ser104Pro) | |
| 11 | g.67490328T>G | CA381551493 | AIP | c.635T>G c.469T>G (p.Ser157Ala) n.1170T>G c.469-669T>G (n.469-669T>G) c.289T>G (p.Ser97Ala) c.658T>G (p.Ser220Ala) c.481T>G (p.Ser161Ala) c.478T>G (p.Ser160Ala) c.310T>G (p.Ser104Ala) | |
| 11 | g.67490328T= | CA1980172406 | AIP | c.635T= c.469T= (p.Ser157=) n.1170T= c.469-669T= (n.469-669T=) c.289T= (p.Ser97=) c.658T= (p.Ser220=) c.481T= (p.Ser161=) c.478T= (p.Ser160=) c.310T= (p.Ser104=) | |
| 11 | g.67490329C>A | CA381551494 | AIP | c.636C>A c.470C>A (p.Ser157Tyr) n.1171C>A c.469-668C>A (n.469-668C>A) c.290C>A (p.Ser97Tyr) c.659C>A (p.Ser220Tyr) c.482C>A (p.Ser161Tyr) c.479C>A (p.Ser160Tyr) c.311C>A (p.Ser104Tyr) | |
| 11 | g.67490329C= | CA1980172407 | AIP | c.636C= c.470C= (p.Ser157=) n.1171C= c.469-668C= (n.469-668C=) c.290C= (p.Ser97=) c.659C= (p.Ser220=) c.482C= (p.Ser161=) c.479C= (p.Ser160=) c.311C= (p.Ser104=) | |
| 11 | g.67490329C>G | CA381551495 | AIP | c.636C>G c.470C>G (p.Ser157Cys) n.1171C>G c.469-668C>G (n.469-668C>G) c.290C>G (p.Ser97Cys) c.659C>G (p.Ser220Cys) c.482C>G (p.Ser161Cys) c.479C>G (p.Ser160Cys) c.311C>G (p.Ser104Cys) | |
| 11 | g.67490329C>T | CA381551496 | AIP | c.636C>T c.470C>T (p.Ser157Phe) n.1171C>T c.469-668C>T (n.469-668C>T) c.290C>T (p.Ser97Phe) c.659C>T (p.Ser220Phe) c.482C>T (p.Ser161Phe) c.479C>T (p.Ser160Phe) c.311C>T (p.Ser104Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490332dup | CA344150 | AIP | c.639dup c.473dup (p.Glu159Ter) n.1174dup c.469-665dup (n.469-665dup) c.293dup (p.Glu99Ter) c.662dup (p.Glu222Ter) c.485dup (p.Glu163Ter) c.482dup (p.Glu162Ter) c.314dup (p.Glu106Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490330C>A | CA475509189 | AIP | c.637C>A c.471C>A (p.Ser157=) n.1172C>A c.469-667C>A (n.469-667C>A) c.291C>A (p.Ser97=) c.660C>A (p.Ser220=) c.483C>A (p.Ser161=) c.480C>A (p.Ser160=) c.312C>A (p.Ser104=) | dbSNP |