| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89282768_89282772del | CA912996735 | ANKRD11 | c.3773_3777del (p.Glu1258ValfsTer23) c.*3576_*3580del (n.*3576_*3580del) c.744+5759_744+5763del (n.744+5759_744+5763del) c.151+5759_151+5763del c.3671_3675del (p.Glu1224ValfsTer23) c.3476_3480del (p.Glu1159ValfsTer23) c.3644_3648del (p.Glu1215ValfsTer23) | |
| 16 | g.89282765_89282782delinsCTTCTCTTTGTGTTTGCT | CA2241603489 | ANKRD11 | c.3760_3777delinsAGCAAACACAAAGAGAAG (p.Ser1254=) c.*3563_*3580delinsAGCAAACACAAAGAGAAG (n.*3563_*3580delinsAGCAAACACAAAGAGAAG) c.744+5746_744+5763delinsAGCAAACACAAAGAGAAG (n.744+5746_744+5763delinsAGCAAACACAAAGAGAAG) c.151+5746_151+5763delinsAGCAAACACAAAGAGAAG c.3658_3675delinsAGCAAACACAAAGAGAAG (p.Ser1220=) c.3463_3480delinsAGCAAACACAAAGAGAAG (p.Ser1155=) c.3631_3648delinsAGCAAACACAAAGAGAAG (p.Ser1211=) | |
| 16 | g.89282768_89282784del | CA915949422 | ANKRD11 | c.3760_3776del (p.Ser1254ValfsTer23) c.*3563_*3579del (n.*3563_*3579del) c.744+5746_744+5762del (n.744+5746_744+5762del) c.151+5746_151+5762del c.3658_3674del (p.Ser1220ValfsTer23) c.3463_3479del (p.Ser1155ValfsTer23) c.3631_3647del (p.Ser1211ValfsTer23) | ClinVar dbSNP |
| 16 | g.89282768_89282772delinsCTCTT | CA2241603491 | ANKRD11 | c.3770_3774delinsAAGAG (p.Lys1257=) c.*3573_*3577delinsAAGAG (n.*3573_*3577delinsAAGAG) c.744+5756_744+5760delinsAAGAG (n.744+5756_744+5760delinsAAGAG) c.151+5756_151+5760delinsAAGAG c.3668_3672delinsAAGAG (p.Lys1223=) c.3473_3477delinsAAGAG (p.Lys1158=) c.3641_3645delinsAAGAG (p.Lys1214=) | |
| 16 | g.89282770_89282773del | CA658790755 | ANKRD11 | c.3770_3773del (p.Lys1257ArgfsTer?) c.*3573_*3576del (n.*3573_*3576del) c.744+5756_744+5759del (n.744+5756_744+5759del) c.151+5756_151+5759del c.3668_3671del (p.Lys1223ArgfsTer?) c.3473_3476del (p.Lys1158ArgfsTer?) c.3641_3644del (p.Lys1214ArgfsTer?) | ClinVar dbSNP |
| 16 | g.89282770_89282772delinsCTT | CA2241603498 | ANKRD11 | c.3770_3772delinsAAG (p.Lys1257=) c.*3573_*3575delinsAAG (n.*3573_*3575delinsAAG) c.744+5756_744+5758delinsAAG (n.744+5756_744+5758delinsAAG) c.151+5756_151+5758delinsAAG c.3668_3670delinsAAG (p.Lys1223=) c.3473_3475delinsAAG (p.Lys1158=) c.3641_3643delinsAAG (p.Lys1214=) | |
| 16 | g.89282773dup | CA2695223947 | ANKRD11 | c.3771dup (p.Glu1258ArgfsTer25) c.*3574dup (n.*3574dup) c.744+5757dup (n.744+5757dup) c.151+5757dup c.3669dup (p.Glu1224ArgfsTer25) c.3474dup (p.Glu1159ArgfsTer25) c.3642dup (p.Glu1215ArgfsTer25) | |
| 16 | g.89282772_89282773del | CA10588633 | ANKRD11 | c.3770_3771del (p.Lys1257ArgfsTer25) c.*3573_*3574del (n.*3573_*3574del) c.744+5756_744+5757del (n.744+5756_744+5757del) c.151+5756_151+5757del c.3668_3669del (p.Lys1223ArgfsTer25) c.3473_3474del (p.Lys1158ArgfsTer25) c.3641_3642del (p.Lys1214ArgfsTer25) | ClinVar dbSNP |
| 16 | g.89282772T>A | CA397159043 | ANKRD11 | c.3770A>T (p.Lys1257Ile) c.*3573A>T (n.*3573A>T) c.744+5756A>T (n.744+5756A>T) c.151+5756A>T c.3668A>T (p.Lys1223Ile) c.3473A>T (p.Lys1158Ile) c.3641A>T (p.Lys1214Ile) | |
| 16 | g.89282772T>C | CA397159042 | ANKRD11 | c.3770A>G (p.Lys1257Arg) c.*3573A>G (n.*3573A>G) c.744+5756A>G (n.744+5756A>G) c.151+5756A>G c.3668A>G (p.Lys1223Arg) c.3473A>G (p.Lys1158Arg) c.3641A>G (p.Lys1214Arg) | |
| 16 | g.89282772T>G | CA286517039 | ANKRD11 | c.3770A>C (p.Lys1257Thr) c.*3573A>C (n.*3573A>C) c.744+5756A>C (n.744+5756A>C) c.151+5756A>C c.3668A>C (p.Lys1223Thr) c.3473A>C (p.Lys1158Thr) c.3641A>C (p.Lys1214Thr) | dbSNP |
| 16 | g.89282772T= | CA2241603502 | ANKRD11 | c.3770A= (p.Lys1257=) c.*3573A= (n.*3573A=) c.744+5756A= (n.744+5756A=) c.151+5756A= c.3668A= (p.Lys1223=) c.3473A= (p.Lys1158=) c.3641A= (p.Lys1214=) | |
| 16 | g.89282772_89282774delinsTTG | CA2241603504 | ANKRD11 | c.3768_3770delinsCAA (p.His1256=) c.*3571_*3573delinsCAA (n.*3571_*3573delinsCAA) c.744+5754_744+5756delinsCAA (n.744+5754_744+5756delinsCAA) c.151+5754_151+5756delinsCAA c.3666_3668delinsCAA (p.His1222=) c.3471_3473delinsCAA (p.His1157=) c.3639_3641delinsCAA (p.His1213=) | |
| 16 | g.89282773T>A | CA397159044 | ANKRD11 | c.3769A>T (p.Lys1257Ter) c.*3572A>T (n.*3572A>T) c.744+5755A>T (n.744+5755A>T) c.151+5755A>T c.3667A>T (p.Lys1223Ter) c.3472A>T (p.Lys1158Ter) c.3640A>T (p.Lys1214Ter) | |
| 16 | g.89282773T>C | CA397159045 | ANKRD11 | c.3769A>G (p.Lys1257Glu) c.*3572A>G (n.*3572A>G) c.744+5755A>G (n.744+5755A>G) c.151+5755A>G c.3667A>G (p.Lys1223Glu) c.3472A>G (p.Lys1158Glu) c.3640A>G (p.Lys1214Glu) | |
| 16 | g.89282773T>G | CA8242293 | ANKRD11 | c.3769A>C (p.Lys1257Gln) c.*3572A>C (n.*3572A>C) c.744+5755A>C (n.744+5755A>C) c.151+5755A>C c.3667A>C (p.Lys1223Gln) c.3472A>C (p.Lys1158Gln) c.3640A>C (p.Lys1214Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282773T= | CA2241603507 | ANKRD11 | c.3769A= (p.Lys1257=) c.*3572A= (n.*3572A=) c.744+5755A= (n.744+5755A=) c.151+5755A= c.3667A= (p.Lys1223=) c.3472A= (p.Lys1158=) c.3640A= (p.Lys1214=) | |
| 16 | g.89282776_89282777del | CA2241603506 | ANKRD11 | c.3768_3769del (p.His1256GlnfsTer26) c.*3571_*3572del (n.*3571_*3572del) c.744+5754_744+5755del (n.744+5754_744+5755del) c.151+5754_151+5755del c.3666_3667del (p.His1222GlnfsTer26) c.3471_3472del (p.His1157GlnfsTer26) c.3639_3640del (p.His1213GlnfsTer26) | ClinVar dbSNP |
| 16 | g.89282774G>A | CA497374698 | ANKRD11 | c.3768C>T (p.His1256=) c.*3571C>T (n.*3571C>T) c.744+5754C>T (n.744+5754C>T) c.151+5754C>T c.3666C>T (p.His1222=) c.3471C>T (p.His1157=) c.3639C>T (p.His1213=) | |
| 16 | g.89282774G>C | CA397159046 | ANKRD11 | c.3768C>G (p.His1256Gln) c.*3571C>G (n.*3571C>G) c.744+5754C>G (n.744+5754C>G) c.151+5754C>G c.3666C>G (p.His1222Gln) c.3471C>G (p.His1157Gln) c.3639C>G (p.His1213Gln) | |
| 16 | g.89282774G>T | CA397159047 | ANKRD11 | c.3768C>A (p.His1256Gln) c.*3571C>A (n.*3571C>A) c.744+5754C>A (n.744+5754C>A) c.151+5754C>A c.3666C>A (p.His1222Gln) c.3471C>A (p.His1157Gln) c.3639C>A (p.His1213Gln) | |
| 16 | g.89282775T>A | CA397159048 | ANKRD11 | c.3767A>T (p.His1256Leu) c.*3570A>T (n.*3570A>T) c.744+5753A>T (n.744+5753A>T) c.151+5753A>T c.3665A>T (p.His1222Leu) c.3470A>T (p.His1157Leu) c.3638A>T (p.His1213Leu) | |
| 16 | g.89282775T>C | CA397159050 | ANKRD11 | c.3767A>G (p.His1256Arg) c.*3570A>G (n.*3570A>G) c.744+5753A>G (n.744+5753A>G) c.151+5753A>G c.3665A>G (p.His1222Arg) c.3470A>G (p.His1157Arg) c.3638A>G (p.His1213Arg) | |
| 16 | g.89282775T>G | CA397159049 | ANKRD11 | c.3767A>C (p.His1256Pro) c.*3570A>C (n.*3570A>C) c.744+5753A>C (n.744+5753A>C) c.151+5753A>C c.3665A>C (p.His1222Pro) c.3470A>C (p.His1157Pro) c.3638A>C (p.His1213Pro) | |
| 16 | g.89282776G>A | CA397159051 | ANKRD11 | c.3766C>T (p.His1256Tyr) c.*3569C>T (n.*3569C>T) c.744+5752C>T (n.744+5752C>T) c.151+5752C>T c.3664C>T (p.His1222Tyr) c.3469C>T (p.His1157Tyr) c.3637C>T (p.His1213Tyr) | COSMIC |
| 16 | g.89282776G>C | CA397159052 | ANKRD11 | c.3766C>G (p.His1256Asp) c.*3569C>G (n.*3569C>G) c.744+5752C>G (n.744+5752C>G) c.151+5752C>G c.3664C>G (p.His1222Asp) c.3469C>G (p.His1157Asp) c.3637C>G (p.His1213Asp) | |
| 16 | g.89282776G>T | CA397159053 | ANKRD11 | c.3766C>A (p.His1256Asn) c.*3569C>A (n.*3569C>A) c.744+5752C>A (n.744+5752C>A) c.151+5752C>A c.3664C>A (p.His1222Asn) c.3469C>A (p.His1157Asn) c.3637C>A (p.His1213Asn) | |
| 16 | g.89282777T>A | CA397159054 | ANKRD11 | c.3765A>T (p.Lys1255Asn) c.*3568A>T (n.*3568A>T) c.744+5751A>T (n.744+5751A>T) c.151+5751A>T c.3663A>T (p.Lys1221Asn) c.3468A>T (p.Lys1156Asn) c.3636A>T (p.Lys1212Asn) | |
| 16 | g.89282777T>C | CA497374704 | ANKRD11 | c.3765A>G (p.Lys1255=) c.*3568A>G (n.*3568A>G) c.744+5751A>G (n.744+5751A>G) c.151+5751A>G c.3663A>G (p.Lys1221=) c.3468A>G (p.Lys1156=) c.3636A>G (p.Lys1212=) | |
| 16 | g.89282777T>G | CA397159055 | ANKRD11 | c.3765A>C (p.Lys1255Asn) c.*3568A>C (n.*3568A>C) c.744+5751A>C (n.744+5751A>C) c.151+5751A>C c.3663A>C (p.Lys1221Asn) c.3468A>C (p.Lys1156Asn) c.3636A>C (p.Lys1212Asn) | |
| 16 | g.89282778T>A | CA397159056 | ANKRD11 | c.3764A>T (p.Lys1255Ile) c.*3567A>T (n.*3567A>T) c.744+5750A>T (n.744+5750A>T) c.151+5750A>T c.3662A>T (p.Lys1221Ile) c.3467A>T (p.Lys1156Ile) c.3635A>T (p.Lys1212Ile) | gnomAD v4 |
| 16 | g.89282778T>C | CA397159057 | ANKRD11 | c.3764A>G (p.Lys1255Arg) c.*3567A>G (n.*3567A>G) c.744+5750A>G (n.744+5750A>G) c.151+5750A>G c.3662A>G (p.Lys1221Arg) c.3467A>G (p.Lys1156Arg) c.3635A>G (p.Lys1212Arg) | |
| 16 | g.89282778T>G | CA397159058 | ANKRD11 | c.3764A>C (p.Lys1255Thr) c.*3567A>C (n.*3567A>C) c.744+5750A>C (n.744+5750A>C) c.151+5750A>C c.3662A>C (p.Lys1221Thr) c.3467A>C (p.Lys1156Thr) c.3635A>C (p.Lys1212Thr) | |
| 16 | g.89282779T>A | CA397159059 | ANKRD11 | c.3763A>T (p.Lys1255Ter) c.*3566A>T (n.*3566A>T) c.744+5749A>T (n.744+5749A>T) c.151+5749A>T c.3661A>T (p.Lys1221Ter) c.3466A>T (p.Lys1156Ter) c.3634A>T (p.Lys1212Ter) | |
| 16 | g.89282779T>C | CA397159060 | ANKRD11 | c.3763A>G (p.Lys1255Glu) c.*3566A>G (n.*3566A>G) c.744+5749A>G (n.744+5749A>G) c.151+5749A>G c.3661A>G (p.Lys1221Glu) c.3466A>G (p.Lys1156Glu) c.3634A>G (p.Lys1212Glu) | gnomAD v4 |
| 16 | g.89282779T>G | CA397159061 | ANKRD11 | c.3763A>C (p.Lys1255Gln) c.*3566A>C (n.*3566A>C) c.744+5749A>C (n.744+5749A>C) c.151+5749A>C c.3661A>C (p.Lys1221Gln) c.3466A>C (p.Lys1156Gln) c.3634A>C (p.Lys1212Gln) | |
| 16 | g.89282780G>A | CA497374707 | ANKRD11 | c.3762C>T (p.Ser1254=) c.*3565C>T (n.*3565C>T) c.744+5748C>T (n.744+5748C>T) c.151+5748C>T c.3660C>T (p.Ser1220=) c.3465C>T (p.Ser1155=) c.3633C>T (p.Ser1211=) | |
| 16 | g.89282780G>C | CA397159063 | ANKRD11 | c.3762C>G (p.Ser1254Arg) c.*3565C>G (n.*3565C>G) c.744+5748C>G (n.744+5748C>G) c.151+5748C>G c.3660C>G (p.Ser1220Arg) c.3465C>G (p.Ser1155Arg) c.3633C>G (p.Ser1211Arg) | |
| 16 | g.89282780G>T | CA397159062 | ANKRD11 | c.3762C>A (p.Ser1254Arg) c.*3565C>A (n.*3565C>A) c.744+5748C>A (n.744+5748C>A) c.151+5748C>A c.3660C>A (p.Ser1220Arg) c.3465C>A (p.Ser1155Arg) c.3633C>A (p.Ser1211Arg) | gnomAD v4 |
| 16 | g.89282781del | CA2695201161 | ANKRD11 | c.3761del (p.Ser1254ThrfsTer?) c.*3564del (n.*3564del) c.744+5747del (n.744+5747del) c.151+5747del c.3659del (p.Ser1220ThrfsTer?) c.3464del (p.Ser1155ThrfsTer?) c.3632del (p.Ser1211ThrfsTer?) | ClinVar |
| 16 | g.89282781C>A | CA397159064 | ANKRD11 | c.3761G>T (p.Ser1254Ile) c.*3564G>T (n.*3564G>T) c.744+5747G>T (n.744+5747G>T) c.151+5747G>T c.3659G>T (p.Ser1220Ile) c.3464G>T (p.Ser1155Ile) c.3632G>T (p.Ser1211Ile) | COSMIC |
| 16 | g.89282781C>G | CA397159065 | ANKRD11 | c.3761G>C (p.Ser1254Thr) c.*3564G>C (n.*3564G>C) c.744+5747G>C (n.744+5747G>C) c.151+5747G>C c.3659G>C (p.Ser1220Thr) c.3464G>C (p.Ser1155Thr) c.3632G>C (p.Ser1211Thr) | |
| 16 | g.89282781C>T | CA397159066 | ANKRD11 | c.3761G>A (p.Ser1254Asn) c.*3564G>A (n.*3564G>A) c.744+5747G>A (n.744+5747G>A) c.151+5747G>A c.3659G>A (p.Ser1220Asn) c.3464G>A (p.Ser1155Asn) c.3632G>A (p.Ser1211Asn) | gnomAD v4 |
| 16 | g.89282782T>A | CA397159067 | ANKRD11 | c.3760A>T (p.Ser1254Cys) c.*3563A>T (n.*3563A>T) c.744+5746A>T (n.744+5746A>T) c.151+5746A>T c.3658A>T (p.Ser1220Cys) c.3463A>T (p.Ser1155Cys) c.3631A>T (p.Ser1211Cys) | |
| 16 | g.89282782T>C | CA397159068 | ANKRD11 | c.3760A>G (p.Ser1254Gly) c.*3563A>G (n.*3563A>G) c.744+5746A>G (n.744+5746A>G) c.151+5746A>G c.3658A>G (p.Ser1220Gly) c.3463A>G (p.Ser1155Gly) c.3631A>G (p.Ser1211Gly) | dbSNP |
| 16 | g.89282782T>G | CA397159069 | ANKRD11 | c.3760A>C (p.Ser1254Arg) c.*3563A>C (n.*3563A>C) c.744+5746A>C (n.744+5746A>C) c.151+5746A>C c.3658A>C (p.Ser1220Arg) c.3463A>C (p.Ser1155Arg) c.3631A>C (p.Ser1211Arg) | |
| 16 | g.89282782T= | CA2241603509 | ANKRD11 | c.3760A= (p.Ser1254=) c.*3563A= (n.*3563A=) c.744+5746A= (n.744+5746A=) c.151+5746A= c.3658A= (p.Ser1220=) c.3463A= (p.Ser1155=) c.3631A= (p.Ser1211=) | |
| 16 | g.89282785del | CA2634942579 | ANKRD11 | c.3760del (p.Ser1254AlafsTer?) c.*3563del (n.*3563del) c.744+5746del (n.744+5746del) c.151+5746del c.3658del (p.Ser1220AlafsTer?) c.3463del (p.Ser1155AlafsTer?) c.3631del (p.Ser1211AlafsTer?) | gnomAD v4 |
| 16 | g.89282783T>A | CA397159070 | ANKRD11 | c.3759A>T (p.Lys1253Asn) c.*3562A>T (n.*3562A>T) c.744+5745A>T (n.744+5745A>T) c.151+5745A>T c.3657A>T (p.Lys1219Asn) c.3462A>T (p.Lys1154Asn) c.3630A>T (p.Lys1210Asn) | |
| 16 | g.89282783T>C | CA497374715 | ANKRD11 | c.3759A>G (p.Lys1253=) c.*3562A>G (n.*3562A>G) c.744+5745A>G (n.744+5745A>G) c.151+5745A>G c.3657A>G (p.Lys1219=) c.3462A>G (p.Lys1154=) c.3630A>G (p.Lys1210=) |