| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490181_67490195del | CA2614623341 | AIP | c.589_603del c.423_437del (p.Ala142_Leu146del) n.1124_1138del c.468+726_468+740del (n.468+726_468+740del) c.243_257del (p.Ala82_Leu86del) c.612_626del (p.Ala205_Leu209del) c.435_449del (p.Ala146_Leu150del) c.432_446del (p.Ala145_Leu149del) c.264_278del (p.Ala89_Leu93del) | gnomAD v4 |
| 11 | g.67490191T>A | CA381551233 | AIP | c.599T>A c.433T>A (p.Cys145Ser) n.1134T>A c.468+736T>A (n.468+736T>A) c.253T>A (p.Cys85Ser) c.622T>A (p.Cys208Ser) c.445T>A (p.Cys149Ser) c.442T>A (p.Cys148Ser) c.274T>A (p.Cys92Ser) | |
| 11 | g.67490191T>C | CA381551237 | AIP | c.599T>C c.433T>C (p.Cys145Arg) n.1134T>C c.468+736T>C (n.468+736T>C) c.253T>C (p.Cys85Arg) c.622T>C (p.Cys208Arg) c.445T>C (p.Cys149Arg) c.442T>C (p.Cys148Arg) c.274T>C (p.Cys92Arg) | |
| 11 | g.67490191T>G | CA381551238 | AIP | c.599T>G c.433T>G (p.Cys145Gly) n.1134T>G c.468+736T>G (n.468+736T>G) c.253T>G (p.Cys85Gly) c.622T>G (p.Cys208Gly) c.445T>G (p.Cys149Gly) c.442T>G (p.Cys148Gly) c.274T>G (p.Cys92Gly) | |
| 11 | g.67490192G>A | CA381551241 | AIP | c.600G>A c.434G>A (p.Cys145Tyr) n.1135G>A c.468+737G>A (n.468+737G>A) c.254G>A (p.Cys85Tyr) c.623G>A (p.Cys208Tyr) c.446G>A (p.Cys149Tyr) c.443G>A (p.Cys148Tyr) c.275G>A (p.Cys92Tyr) | gnomAD v4 |
| 11 | g.67490192G>C | CA381551243 | AIP | c.600G>C c.434G>C (p.Cys145Ser) n.1135G>C c.468+737G>C (n.468+737G>C) c.254G>C (p.Cys85Ser) c.623G>C (p.Cys208Ser) c.446G>C (p.Cys149Ser) c.443G>C (p.Cys148Ser) c.275G>C (p.Cys92Ser) | |
| 11 | g.67490192G>T | CA381551239 | AIP | c.600G>T c.434G>T (p.Cys145Phe) n.1135G>T c.468+737G>T (n.468+737G>T) c.254G>T (p.Cys85Phe) c.623G>T (p.Cys208Phe) c.446G>T (p.Cys149Phe) c.443G>T (p.Cys148Phe) c.275G>T (p.Cys92Phe) | |
| 11 | g.67490193C>A | CA381551247 | AIP | c.601C>A c.435C>A (p.Cys145Ter) n.1136C>A c.468+738C>A (n.468+738C>A) c.255C>A (p.Cys85Ter) c.624C>A (p.Cys208Ter) c.447C>A (p.Cys149Ter) c.444C>A (p.Cys148Ter) c.276C>A (p.Cys92Ter) | |
| 11 | g.67490193C>G | CA381551249 | AIP | c.601C>G c.435C>G (p.Cys145Trp) n.1136C>G c.468+738C>G (n.468+738C>G) c.255C>G (p.Cys85Trp) c.624C>G (p.Cys208Trp) c.447C>G (p.Cys149Trp) c.444C>G (p.Cys148Trp) c.276C>G (p.Cys92Trp) | |
| 11 | g.67490193C>T | CA475509291 | AIP | c.601C>T c.435C>T (p.Cys145=) n.1136C>T c.468+738C>T (n.468+738C>T) c.255C>T (p.Cys85=) c.624C>T (p.Cys208=) c.447C>T (p.Cys149=) c.444C>T (p.Cys148=) c.276C>T (p.Cys92=) | |
| 11 | g.67490194C>A | CA381551251 | AIP | c.602C>A c.436C>A (p.Leu146Ile) n.1137C>A c.468+739C>A (n.468+739C>A) c.256C>A (p.Leu86Ile) c.625C>A (p.Leu209Ile) c.448C>A (p.Leu150Ile) c.445C>A (p.Leu149Ile) c.277C>A (p.Leu93Ile) | |
| 11 | g.67490194C>G | CA381551252 | AIP | c.602C>G c.436C>G (p.Leu146Val) n.1137C>G c.468+739C>G (n.468+739C>G) c.256C>G (p.Leu86Val) c.625C>G (p.Leu209Val) c.448C>G (p.Leu150Val) c.445C>G (p.Leu149Val) c.277C>G (p.Leu93Val) | |
| 11 | g.67490194C>T | CA381551255 | AIP | c.602C>T c.436C>T (p.Leu146Phe) n.1137C>T c.468+739C>T (n.468+739C>T) c.256C>T (p.Leu86Phe) c.625C>T (p.Leu209Phe) c.448C>T (p.Leu150Phe) c.445C>T (p.Leu149Phe) c.277C>T (p.Leu93Phe) | |
| 11 | g.67490195T>A | CA381551260 | AIP | c.603T>A c.437T>A (p.Leu146His) n.1138T>A c.468+740T>A (n.468+740T>A) c.257T>A (p.Leu86His) c.626T>A (p.Leu209His) c.449T>A (p.Leu150His) c.446T>A (p.Leu149His) c.278T>A (p.Leu93His) | |
| 11 | g.67490195T>C | CA381551263 | AIP | c.603T>C c.437T>C (p.Leu146Pro) n.1138T>C c.468+740T>C (n.468+740T>C) c.257T>C (p.Leu86Pro) c.626T>C (p.Leu209Pro) c.449T>C (p.Leu150Pro) c.446T>C (p.Leu149Pro) c.278T>C (p.Leu93Pro) | |
| 11 | g.67490195T>G | CA381551266 | AIP | c.603T>G c.437T>G (p.Leu146Arg) n.1138T>G c.468+740T>G (n.468+740T>G) c.257T>G (p.Leu86Arg) c.626T>G (p.Leu209Arg) c.449T>G (p.Leu150Arg) c.446T>G (p.Leu149Arg) c.278T>G (p.Leu93Arg) | |
| 11 | g.67490196C>A | CA475509293 | AIP | c.604C>A c.438C>A (p.Leu146=) n.1139C>A c.468+741C>A (n.468+741C>A) c.258C>A (p.Leu86=) c.627C>A (p.Leu209=) c.450C>A (p.Leu150=) c.447C>A (p.Leu149=) c.279C>A (p.Leu93=) | |
| 11 | g.67490196C>G | CA475509295 | AIP | c.604C>G c.438C>G (p.Leu146=) n.1139C>G c.468+741C>G (n.468+741C>G) c.258C>G (p.Leu86=) c.627C>G (p.Leu209=) c.450C>G (p.Leu150=) c.447C>G (p.Leu149=) c.279C>G (p.Leu93=) | |
| 11 | g.67490196C>T | CA475509297 | AIP | c.604C>T c.438C>T (p.Leu146=) n.1139C>T c.468+741C>T (n.468+741C>T) c.258C>T (p.Leu86=) c.627C>T (p.Leu209=) c.450C>T (p.Leu150=) c.447C>T (p.Leu149=) c.279C>T (p.Leu93=) | |
| 11 | g.67490197A>C | CA381551271 | AIP | c.605A>C c.439A>C (p.Lys147Gln) n.1140A>C c.468+742A>C (n.468+742A>C) c.259A>C (p.Lys87Gln) c.628A>C (p.Lys210Gln) c.451A>C (p.Lys151Gln) c.448A>C (p.Lys150Gln) c.280A>C (p.Lys94Gln) | ClinVar |
| 11 | g.67490197A>G | CA381551274 | AIP | c.605A>G c.439A>G (p.Lys147Glu) n.1140A>G c.468+742A>G (n.468+742A>G) c.259A>G (p.Lys87Glu) c.628A>G (p.Lys210Glu) c.451A>G (p.Lys151Glu) c.448A>G (p.Lys150Glu) c.280A>G (p.Lys94Glu) | |
| 11 | g.67490197A>T | CA381551277 | AIP | c.605A>T c.439A>T (p.Lys147Ter) n.1140A>T c.468+742A>T (n.468+742A>T) c.259A>T (p.Lys87Ter) c.628A>T (p.Lys210Ter) c.451A>T (p.Lys151Ter) c.448A>T (p.Lys150Ter) c.280A>T (p.Lys94Ter) | |
| 11 | g.67490198A>C | CA381551281 | AIP | c.606A>C c.440A>C (p.Lys147Thr) n.1141A>C c.468+743A>C (n.468+743A>C) c.260A>C (p.Lys87Thr) c.629A>C (p.Lys210Thr) c.452A>C (p.Lys151Thr) c.449A>C (p.Lys150Thr) c.281A>C (p.Lys94Thr) | |
| 11 | g.67490198A>G | CA381551284 | AIP | c.606A>G c.440A>G (p.Lys147Arg) n.1141A>G c.468+743A>G (n.468+743A>G) c.260A>G (p.Lys87Arg) c.629A>G (p.Lys210Arg) c.452A>G (p.Lys151Arg) c.449A>G (p.Lys150Arg) c.281A>G (p.Lys94Arg) | |
| 11 | g.67490198A>T | CA381551286 | AIP | c.606A>T c.440A>T (p.Lys147Met) n.1141A>T c.468+743A>T (n.468+743A>T) c.260A>T (p.Lys87Met) c.629A>T (p.Lys210Met) c.452A>T (p.Lys151Met) c.449A>T (p.Lys150Met) c.281A>T (p.Lys94Met) | |
| 11 | g.67490199del | CA2695214803 | AIP | c.607del c.441del (p.Asn148ThrfsTer4) n.1142del c.468+744del (n.468+744del) c.261del (p.Asn88ThrfsTer4) c.630del (p.Asn211ThrfsTer4) c.453del (p.Asn152ThrfsTer4) c.450del (p.Asn151ThrfsTer4) c.282del (p.Asn95ThrfsTer4) | |
| 11 | g.67490199G>A | CA224165084 | AIP | c.607G>A c.441G>A (p.Lys147=) n.1142G>A c.468+744G>A (n.468+744G>A) c.261G>A (p.Lys87=) c.630G>A (p.Lys210=) c.453G>A (p.Lys151=) c.450G>A (p.Lys150=) c.282G>A (p.Lys94=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490199G>C | CA381551291 | AIP | c.607G>C c.441G>C (p.Lys147Asn) n.1142G>C c.468+744G>C (n.468+744G>C) c.261G>C (p.Lys87Asn) c.630G>C (p.Lys210Asn) c.453G>C (p.Lys151Asn) c.450G>C (p.Lys150Asn) c.282G>C (p.Lys94Asn) | |
| 11 | g.67490199G= | CA1980172341 | AIP | c.607G= c.441G= (p.Lys147=) n.1142G= c.468+744G= (n.468+744G=) c.261G= (p.Lys87=) c.630G= (p.Lys210=) c.453G= (p.Lys151=) c.450G= (p.Lys150=) c.282G= (p.Lys94=) | |
| 11 | g.67490199G>T | CA381551294 | AIP | c.607G>T c.441G>T (p.Lys147Asn) n.1142G>T c.468+744G>T (n.468+744G>T) c.261G>T (p.Lys87Asn) c.630G>T (p.Lys210Asn) c.453G>T (p.Lys151Asn) c.450G>T (p.Lys150Asn) c.282G>T (p.Lys94Asn) | |
| 11 | g.67490200A= | CA1980172342 | AIP | c.608A= c.442A= (p.Asn148=) n.1143A= c.468+745A= (n.468+745A=) c.262A= (p.Asn88=) c.631A= (p.Asn211=) c.454A= (p.Asn152=) c.451A= (p.Asn151=) c.283A= (p.Asn95=) | |
| 11 | g.67490200A>C | CA381551298 | AIP | c.608A>C c.442A>C (p.Asn148His) n.1143A>C c.468+745A>C (n.468+745A>C) c.262A>C (p.Asn88His) c.631A>C (p.Asn211His) c.454A>C (p.Asn152His) c.451A>C (p.Asn151His) c.283A>C (p.Asn95His) | |
| 11 | g.67490200A>G | CA381551301 | AIP | c.608A>G c.442A>G (p.Asn148Asp) n.1143A>G c.468+745A>G (n.468+745A>G) c.262A>G (p.Asn88Asp) c.631A>G (p.Asn211Asp) c.454A>G (p.Asn152Asp) c.451A>G (p.Asn151Asp) c.283A>G (p.Asn95Asp) | ClinVar gnomAD v4 |
| 11 | g.67490200A>T | CA6140881 | AIP | c.608A>T c.442A>T (p.Asn148Tyr) n.1143A>T c.468+745A>T (n.468+745A>T) c.262A>T (p.Asn88Tyr) c.631A>T (p.Asn211Tyr) c.454A>T (p.Asn152Tyr) c.451A>T (p.Asn151Tyr) c.283A>T (p.Asn95Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490201A>C | CA381551307 | AIP | c.609A>C c.443A>C (p.Asn148Thr) n.1144A>C c.468+746A>C (n.468+746A>C) c.263A>C (p.Asn88Thr) c.632A>C (p.Asn211Thr) c.455A>C (p.Asn152Thr) c.452A>C (p.Asn151Thr) c.284A>C (p.Asn95Thr) | |
| 11 | g.67490201A>G | CA381551310 | AIP | c.609A>G c.443A>G (p.Asn148Ser) n.1144A>G c.468+746A>G (n.468+746A>G) c.263A>G (p.Asn88Ser) c.632A>G (p.Asn211Ser) c.455A>G (p.Asn152Ser) c.452A>G (p.Asn151Ser) c.284A>G (p.Asn95Ser) | |
| 11 | g.67490201A>T | CA381551314 | AIP | c.609A>T c.443A>T (p.Asn148Ile) n.1144A>T c.468+746A>T (n.468+746A>T) c.263A>T (p.Asn88Ile) c.632A>T (p.Asn211Ile) c.455A>T (p.Asn152Ile) c.452A>T (p.Asn151Ile) c.284A>T (p.Asn95Ile) | |
| 11 | g.67490202C>A | CA224165090 | AIP | c.610C>A c.444C>A (p.Asn148Lys) n.1145C>A c.468+747C>A (n.468+747C>A) c.264C>A (p.Asn88Lys) c.633C>A (p.Asn211Lys) c.456C>A (p.Asn152Lys) c.453C>A (p.Asn151Lys) c.285C>A (p.Asn95Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490202C= | CA1980172343 | AIP | c.610C= c.444C= (p.Asn148=) n.1145C= c.468+747C= (n.468+747C=) c.264C= (p.Asn88=) c.633C= (p.Asn211=) c.456C= (p.Asn152=) c.453C= (p.Asn151=) c.285C= (p.Asn95=) | |
| 11 | g.67490202C>G | CA381551321 | AIP | c.610C>G c.444C>G (p.Asn148Lys) n.1145C>G c.468+747C>G (n.468+747C>G) c.264C>G (p.Asn88Lys) c.633C>G (p.Asn211Lys) c.456C>G (p.Asn152Lys) c.453C>G (p.Asn151Lys) c.285C>G (p.Asn95Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490202C>T | CA475509308 | AIP | c.610C>T c.444C>T (p.Asn148=) n.1145C>T c.468+747C>T (n.468+747C>T) c.264C>T (p.Asn88=) c.633C>T (p.Asn211=) c.456C>T (p.Asn152=) c.453C>T (p.Asn151=) c.285C>T (p.Asn95=) | |
| 11 | g.67490203C>A | CA381551325 | AIP | c.611C>A c.445C>A (p.Leu149Met) n.1146C>A c.468+748C>A (n.468+748C>A) c.265C>A (p.Leu89Met) c.634C>A (p.Leu212Met) c.457C>A (p.Leu153Met) c.454C>A (p.Leu152Met) c.286C>A (p.Leu96Met) | |
| 11 | g.67490203C= | CA1980172344 | AIP | c.611C= c.445C= (p.Leu149=) n.1146C= c.468+748C= (n.468+748C=) c.265C= (p.Leu89=) c.634C= (p.Leu212=) c.457C= (p.Leu153=) c.454C= (p.Leu152=) c.286C= (p.Leu96=) | |
| 11 | g.67490203C>G | CA381551329 | AIP | c.611C>G c.445C>G (p.Leu149Val) n.1146C>G c.468+748C>G (n.468+748C>G) c.265C>G (p.Leu89Val) c.634C>G (p.Leu212Val) c.457C>G (p.Leu153Val) c.454C>G (p.Leu152Val) c.286C>G (p.Leu96Val) | |
| 11 | g.67490203C>T | CA6140882 | AIP | c.611C>T c.445C>T (p.Leu149=) n.1146C>T c.468+748C>T (n.468+748C>T) c.265C>T (p.Leu89=) c.634C>T (p.Leu212=) c.457C>T (p.Leu153=) c.454C>T (p.Leu152=) c.286C>T (p.Leu96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490204T>A | CA381551338 | AIP | c.612T>A c.446T>A (p.Leu149Gln) n.1147T>A c.468+749T>A (n.468+749T>A) c.266T>A (p.Leu89Gln) c.635T>A (p.Leu212Gln) c.458T>A (p.Leu153Gln) c.455T>A (p.Leu152Gln) c.287T>A (p.Leu96Gln) | |
| 11 | g.67490204T>C | CA381551340 | AIP | c.612T>C c.446T>C (p.Leu149Pro) n.1147T>C c.468+749T>C (n.468+749T>C) c.266T>C (p.Leu89Pro) c.635T>C (p.Leu212Pro) c.458T>C (p.Leu153Pro) c.455T>C (p.Leu152Pro) c.287T>C (p.Leu96Pro) | |
| 11 | g.67490204T>G | CA381551335 | AIP | c.612T>G c.446T>G (p.Leu149Arg) n.1147T>G c.468+749T>G (n.468+749T>G) c.266T>G (p.Leu89Arg) c.635T>G (p.Leu212Arg) c.458T>G (p.Leu153Arg) c.455T>G (p.Leu152Arg) c.287T>G (p.Leu96Arg) | |
| 11 | g.67490205G>A | CA475509314 | AIP | c.613G>A c.447G>A (p.Leu149=) n.1148G>A c.468+750G>A (n.468+750G>A) c.267G>A (p.Leu89=) c.636G>A (p.Leu212=) c.459G>A (p.Leu153=) c.456G>A (p.Leu152=) c.288G>A (p.Leu96=) | |
| 11 | g.67490205G>C | CA475509315 | AIP | c.613G>C c.447G>C (p.Leu149=) n.1148G>C c.468+750G>C (n.468+750G>C) c.267G>C (p.Leu89=) c.636G>C (p.Leu212=) c.459G>C (p.Leu153=) c.456G>C (p.Leu152=) c.288G>C (p.Leu96=) |