Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48756397C>A | CA392343286 | CEP152 | c.2851G>T (p.Ala951Ser) c.2572G>T (p.Ala858Ser) c.892G>T (p.Ala298Ser) c.886G>T (p.Ala296Ser) n.3816G>T n.3802G>T | gnomAD v4 |
15 | g.48756397C= | CA2175629208 | CEP152 | c.2851G= (p.Ala951=) c.2572G= (p.Ala858=) c.892G= (p.Ala298=) c.886G= (p.Ala296=) n.3816G= n.3802G= | |
15 | g.48756397C>G | CA392343287 | CEP152 | c.2851G>C (p.Ala951Pro) c.2572G>C (p.Ala858Pro) c.892G>C (p.Ala298Pro) c.886G>C (p.Ala296Pro) n.3816G>C n.3802G>C | |
15 | g.48756397C>T | CA7548461 | CEP152 | c.2851G>A (p.Ala951Thr) c.2572G>A (p.Ala858Thr) c.892G>A (p.Ala298Thr) c.886G>A (p.Ala296Thr) n.3816G>A n.3802G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756398C>A | CA392343288 | CEP152 | c.2850G>T (p.Arg950Ser) c.2571G>T (p.Arg857Ser) c.891G>T (p.Arg297Ser) c.885G>T (p.Arg295Ser) n.3815G>T n.3801G>T | |
15 | g.48756398C>G | CA392343289 | CEP152 | c.2850G>C (p.Arg950Ser) c.2571G>C (p.Arg857Ser) c.891G>C (p.Arg297Ser) c.885G>C (p.Arg295Ser) n.3815G>C n.3801G>C | |
15 | g.48756398C>T | CA490311355 | CEP152 | c.2850G>A (p.Arg950=) c.2571G>A (p.Arg857=) c.891G>A (p.Arg297=) c.885G>A (p.Arg295=) n.3815G>A n.3801G>A | gnomAD v4 |
15 | g.48756399C>A | CA7548462 | CEP152 | c.2849G>T (p.Arg950Met) c.2570G>T (p.Arg857Met) c.890G>T (p.Arg297Met) c.884G>T (p.Arg295Met) n.3814G>T n.3800G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756399C= | CA2175629211 | CEP152 | c.2849G= (p.Arg950=) c.2570G= (p.Arg857=) c.890G= (p.Arg297=) c.884G= (p.Arg295=) n.3814G= n.3800G= | |
15 | g.48756399C>G | CA392343290 | CEP152 | c.2849G>C (p.Arg950Thr) c.2570G>C (p.Arg857Thr) c.890G>C (p.Arg297Thr) c.884G>C (p.Arg295Thr) n.3814G>C n.3800G>C | |
15 | g.48756399C>T | CA392343291 | CEP152 | c.2849G>A (p.Arg950Lys) c.2570G>A (p.Arg857Lys) c.890G>A (p.Arg297Lys) c.884G>A (p.Arg295Lys) n.3814G>A n.3800G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756400T>A | CA392343292 | CEP152 | c.2848A>T (p.Arg950Trp) c.2569A>T (p.Arg857Trp) c.889A>T (p.Arg297Trp) c.883A>T (p.Arg295Trp) n.3813A>T n.3799A>T | |
15 | g.48756400T>C | CA392343293 | CEP152 | c.2848A>G (p.Arg950Gly) c.2569A>G (p.Arg857Gly) c.889A>G (p.Arg297Gly) c.883A>G (p.Arg295Gly) n.3813A>G n.3799A>G | |
15 | g.48756400T>G | CA490311358 | CEP152 | c.2848A>C (p.Arg950=) c.2569A>C (p.Arg857=) c.889A>C (p.Arg297=) c.883A>C (p.Arg295=) n.3813A>C n.3799A>C | |
15 | g.48756401G>A | CA490311359 | CEP152 | c.2847C>T (p.Ile949=) c.2568C>T (p.Ile856=) c.888C>T (p.Ile296=) c.882C>T (p.Ile294=) n.3812C>T n.3798C>T | dbSNP |
15 | g.48756401G>C | CA392343294 | CEP152 | c.2847C>G (p.Ile949Met) c.2568C>G (p.Ile856Met) c.888C>G (p.Ile296Met) c.882C>G (p.Ile294Met) n.3812C>G n.3798C>G | |
15 | g.48756401G>T | CA490311360 | CEP152 | c.2847C>A (p.Ile949=) c.2568C>A (p.Ile856=) c.888C>A (p.Ile296=) c.882C>A (p.Ile294=) n.3812C>A n.3798C>A | |
15 | g.48756402A>C | CA392343295 | CEP152 | c.2846T>G (p.Ile949Ser) c.2567T>G (p.Ile856Ser) c.887T>G (p.Ile296Ser) c.881T>G (p.Ile294Ser) n.3811T>G n.3797T>G | |
15 | g.48756402A>G | CA392343297 | CEP152 | c.2846T>C (p.Ile949Thr) c.2567T>C (p.Ile856Thr) c.887T>C (p.Ile296Thr) c.881T>C (p.Ile294Thr) n.3811T>C n.3797T>C | |
15 | g.48756402A>T | CA392343296 | CEP152 | c.2846T>A (p.Ile949Asn) c.2567T>A (p.Ile856Asn) c.887T>A (p.Ile296Asn) c.881T>A (p.Ile294Asn) n.3811T>A n.3797T>A | |
15 | g.48756403T>A | CA392343298 | CEP152 | c.2845A>T (p.Ile949Phe) c.2566A>T (p.Ile856Phe) c.886A>T (p.Ile296Phe) c.880A>T (p.Ile294Phe) n.3810A>T n.3796A>T | dbSNP gnomAD v4 |
15 | g.48756403T>C | CA392343299 | CEP152 | c.2845A>G (p.Ile949Val) c.2566A>G (p.Ile856Val) c.886A>G (p.Ile296Val) c.880A>G (p.Ile294Val) n.3810A>G n.3796A>G | |
15 | g.48756403T>G | CA392343300 | CEP152 | c.2845A>C (p.Ile949Leu) c.2566A>C (p.Ile856Leu) c.886A>C (p.Ile296Leu) c.880A>C (p.Ile294Leu) n.3810A>C n.3796A>C | |
15 | g.48756403T= | CA2175629214 | CEP152 | c.2845A= (p.Ile949=) c.2566A= (p.Ile856=) c.886A= (p.Ile296=) c.880A= (p.Ile294=) n.3810A= n.3796A= | |
15 | g.48756404G>A | CA490311361 | CEP152 | c.2844C>T (p.Val948=) c.2565C>T (p.Val855=) c.885C>T (p.Val295=) c.879C>T (p.Val293=) n.3809C>T n.3795C>T | |
15 | g.48756404G>C | CA490311362 | CEP152 | c.2844C>G (p.Val948=) c.2565C>G (p.Val855=) c.885C>G (p.Val295=) c.879C>G (p.Val293=) n.3809C>G n.3795C>G | |
15 | g.48756404G>T | CA490311363 | CEP152 | c.2844C>A (p.Val948=) c.2565C>A (p.Val855=) c.885C>A (p.Val295=) c.879C>A (p.Val293=) n.3809C>A n.3795C>A | gnomAD v4 COSMIC COSMIC |
15 | g.48756405A>C | CA392343301 | CEP152 | c.2843T>G (p.Val948Gly) c.2564T>G (p.Val855Gly) c.884T>G (p.Val295Gly) c.878T>G (p.Val293Gly) n.3808T>G n.3794T>G | |
15 | g.48756405A>G | CA392343302 | CEP152 | c.2843T>C (p.Val948Ala) c.2564T>C (p.Val855Ala) c.884T>C (p.Val295Ala) c.878T>C (p.Val293Ala) n.3808T>C n.3794T>C | |
15 | g.48756405A>T | CA392343303 | CEP152 | c.2843T>A (p.Val948Asp) c.2564T>A (p.Val855Asp) c.884T>A (p.Val295Asp) c.878T>A (p.Val293Asp) n.3808T>A n.3794T>A | |
15 | g.48756406C>A | CA392343304 | CEP152 | c.2842G>T (p.Val948Phe) c.2563G>T (p.Val855Phe) c.883G>T (p.Val295Phe) c.877G>T (p.Val293Phe) n.3807G>T n.3793G>T | |
15 | g.48756406C= | CA2175629218 | CEP152 | c.2842G= (p.Val948=) c.2563G= (p.Val855=) c.883G= (p.Val295=) c.877G= (p.Val293=) n.3807G= n.3793G= | |
15 | g.48756406C>G | CA7548463 | CEP152 | c.2842G>C (p.Val948Leu) c.2563G>C (p.Val855Leu) c.883G>C (p.Val295Leu) c.877G>C (p.Val293Leu) n.3807G>C n.3793G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756406C>T | CA392343305 | CEP152 | c.2842G>A (p.Val948Ile) c.2563G>A (p.Val855Ile) c.883G>A (p.Val295Ile) c.877G>A (p.Val293Ile) n.3807G>A n.3793G>A | dbSNP |
15 | g.48756407C>A | CA490311365 | CEP152 | c.2841G>T (p.Val947=) c.2562G>T (p.Val854=) c.882G>T (p.Val294=) c.876G>T (p.Val292=) n.3806G>T n.3792G>T | |
15 | g.48756407C= | CA2175629223 | CEP152 | c.2841G= (p.Val947=) c.2562G= (p.Val854=) c.882G= (p.Val294=) c.876G= (p.Val292=) n.3806G= n.3792G= | |
15 | g.48756407C>G | CA490311364 | CEP152 | c.2841G>C (p.Val947=) c.2562G>C (p.Val854=) c.882G>C (p.Val294=) c.876G>C (p.Val292=) n.3806G>C n.3792G>C | |
15 | g.48756407C>T | CA7548464 | CEP152 | c.2841G>A (p.Val947=) c.2562G>A (p.Val854=) c.882G>A (p.Val294=) c.876G>A (p.Val292=) n.3806G>A n.3792G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756409_48756410dup | CA2628343513 | CEP152 | c.2840_2841dup (p.Val948TrpfsTer7) c.2561_2562dup (p.Val855TrpfsTer7) c.881_882dup (p.Val295TrpfsTer7) c.875_876dup (p.Val293TrpfsTer7) n.3805_3806dup n.3791_3792dup | gnomAD v4 |
15 | g.48756408A>C | CA392343306 | CEP152 | c.2840T>G (p.Val947Gly) c.2561T>G (p.Val854Gly) c.881T>G (p.Val294Gly) c.875T>G (p.Val292Gly) n.3805T>G n.3791T>G | |
15 | g.48756408A>G | CA392343307 | CEP152 | c.2840T>C (p.Val947Ala) c.2561T>C (p.Val854Ala) c.881T>C (p.Val294Ala) c.875T>C (p.Val292Ala) n.3805T>C n.3791T>C | |
15 | g.48756408A>T | CA392343308 | CEP152 | c.2840T>A (p.Val947Glu) c.2561T>A (p.Val854Glu) c.881T>A (p.Val294Glu) c.875T>A (p.Val292Glu) n.3805T>A n.3791T>A | |
15 | g.48756409C>A | CA392343309 | CEP152 | c.2839G>T (p.Val947Leu) c.2560G>T (p.Val854Leu) c.880G>T (p.Val294Leu) c.874G>T (p.Val292Leu) n.3804G>T n.3790G>T | |
15 | g.48756409C>G | CA392343311 | CEP152 | c.2839G>C (p.Val947Leu) c.2560G>C (p.Val854Leu) c.880G>C (p.Val294Leu) c.874G>C (p.Val292Leu) n.3804G>C n.3790G>C | |
15 | g.48756409C>T | CA392343310 | CEP152 | c.2839G>A (p.Val947Met) c.2560G>A (p.Val854Met) c.880G>A (p.Val294Met) c.874G>A (p.Val292Met) n.3804G>A n.3790G>A | |
15 | g.48756410A>C | CA490311368 | CEP152 | c.2838T>G (p.Pro946=) c.2559T>G (p.Pro853=) c.879T>G (p.Pro293=) c.873T>G (p.Pro291=) n.3803T>G n.3789T>G | |
15 | g.48756410A>G | CA490311367 | CEP152 | c.2838T>C (p.Pro946=) c.2559T>C (p.Pro853=) c.879T>C (p.Pro293=) c.873T>C (p.Pro291=) n.3803T>C n.3789T>C | |
15 | g.48756410A>T | CA490311366 | CEP152 | c.2838T>A (p.Pro946=) c.2559T>A (p.Pro853=) c.879T>A (p.Pro293=) c.873T>A (p.Pro291=) n.3803T>A n.3789T>A | |
15 | g.48756411G>A | CA392343312 | CEP152 | c.2837C>T (p.Pro946Leu) c.2558C>T (p.Pro853Leu) c.878C>T (p.Pro293Leu) c.872C>T (p.Pro291Leu) n.3802C>T n.3788C>T | |
15 | g.48756411G>C | CA392343313 | CEP152 | c.2837C>G (p.Pro946Arg) c.2558C>G (p.Pro853Arg) c.878C>G (p.Pro293Arg) c.872C>G (p.Pro291Arg) n.3802C>G n.3788C>G | |
15 | g.48756411G>T | CA392343314 | CEP152 | c.2837C>A (p.Pro946His) c.2558C>A (p.Pro853His) c.878C>A (p.Pro293His) c.872C>A (p.Pro291His) n.3802C>A n.3788C>A | |
15 | g.48756412G>A | CA392343315 | CEP152 | c.2836C>T (p.Pro946Ser) c.2557C>T (p.Pro853Ser) c.877C>T (p.Pro293Ser) c.871C>T (p.Pro291Ser) n.3801C>T n.3787C>T | |
15 | g.48756412G>C | CA7548465 | CEP152 | c.2836C>G (p.Pro946Ala) c.2557C>G (p.Pro853Ala) c.877C>G (p.Pro293Ala) c.871C>G (p.Pro291Ala) n.3801C>G n.3787C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756412G= | CA2175629226 | CEP152 | c.2836C= (p.Pro946=) c.2557C= (p.Pro853=) c.877C= (p.Pro293=) c.871C= (p.Pro291=) n.3801C= n.3787C= | |
15 | g.48756412G>T | CA392343316 | CEP152 | c.2836C>A (p.Pro946Thr) c.2557C>A (p.Pro853Thr) c.877C>A (p.Pro293Thr) c.871C>A (p.Pro291Thr) n.3801C>A n.3787C>A | |
15 | g.48756413G>A | CA490311371 | CEP152 | c.2835C>T (p.Val945=) c.2556C>T (p.Val852=) c.876C>T (p.Val292=) c.870C>T (p.Val290=) n.3800C>T n.3786C>T | |
15 | g.48756413G>C | CA490311369 | CEP152 | c.2835C>G (p.Val945=) c.2556C>G (p.Val852=) c.876C>G (p.Val292=) c.870C>G (p.Val290=) n.3800C>G n.3786C>G | ClinVar dbSNP gnomAD v4 |
15 | g.48756413G= | CA2175629230 | CEP152 | c.2835C= (p.Val945=) c.2556C= (p.Val852=) c.876C= (p.Val292=) c.870C= (p.Val290=) n.3800C= n.3786C= | |
15 | g.48756413G>T | CA490311370 | CEP152 | c.2835C>A (p.Val945=) c.2556C>A (p.Val852=) c.876C>A (p.Val292=) c.870C>A (p.Val290=) n.3800C>A n.3786C>A | |
15 | g.48756414A>C | CA392343317 | CEP152 | c.2834T>G (p.Val945Gly) c.2555T>G (p.Val852Gly) c.875T>G (p.Val292Gly) c.869T>G (p.Val290Gly) n.3799T>G n.3785T>G | |
15 | g.48756414A>G | CA392343318 | CEP152 | c.2834T>C (p.Val945Ala) c.2555T>C (p.Val852Ala) c.875T>C (p.Val292Ala) c.869T>C (p.Val290Ala) n.3799T>C n.3785T>C | |
15 | g.48756414A>T | CA392343319 | CEP152 | c.2834T>A (p.Val945Asp) c.2555T>A (p.Val852Asp) c.875T>A (p.Val292Asp) c.869T>A (p.Val290Asp) n.3799T>A n.3785T>A | gnomAD v4 |
15 | g.48756414_48756417delinsACTT | CA2175629232 | CEP152 | c.2831_2834delinsAAGT (p.Glu944=) c.2552_2555delinsAAGT (p.Glu851=) c.872_875delinsAAGT (p.Glu291=) c.866_869delinsAAGT (p.Glu289=) n.3796_3799delinsAAGT n.3782_3785delinsAAGT | |
15 | g.48756415C>A | CA392343322 | CEP152 | c.2833G>T (p.Val945Phe) c.2554G>T (p.Val852Phe) c.874G>T (p.Val292Phe) c.868G>T (p.Val290Phe) n.3798G>T n.3784G>T | |
15 | g.48756415C>G | CA392343320 | CEP152 | c.2833G>C (p.Val945Leu) c.2554G>C (p.Val852Leu) c.874G>C (p.Val292Leu) c.868G>C (p.Val290Leu) n.3798G>C n.3784G>C | |
15 | g.48756415C>T | CA392343321 | CEP152 | c.2833G>A (p.Val945Ile) c.2554G>A (p.Val852Ile) c.874G>A (p.Val292Ile) c.868G>A (p.Val290Ile) n.3798G>A n.3784G>A | |
15 | g.48756419_48756421del | CA7548466 | CEP152 | c.2831_2833del (p.Glu944del) c.2552_2554del (p.Glu851del) c.872_874del (p.Glu291del) c.866_868del (p.Glu289del) n.3796_3798del n.3782_3784del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756416T>A | CA392343323 | CEP152 | c.2832A>T (p.Glu944Asp) c.2553A>T (p.Glu851Asp) c.873A>T (p.Glu291Asp) c.867A>T (p.Glu289Asp) n.3797A>T n.3783A>T | |
15 | g.48756416T>C | CA490311372 | CEP152 | c.2832A>G (p.Glu944=) c.2553A>G (p.Glu851=) c.873A>G (p.Glu291=) c.867A>G (p.Glu289=) n.3797A>G n.3783A>G | gnomAD v4 |
15 | g.48756416T>G | CA392343324 | CEP152 | c.2832A>C (p.Glu944Asp) c.2553A>C (p.Glu851Asp) c.873A>C (p.Glu291Asp) c.867A>C (p.Glu289Asp) n.3797A>C n.3783A>C | |
15 | g.48756417T>A | CA392343325 | CEP152 | c.2831A>T (p.Glu944Val) c.2552A>T (p.Glu851Val) c.872A>T (p.Glu291Val) c.866A>T (p.Glu289Val) n.3796A>T n.3782A>T | |
15 | g.48756417T>C | CA392343326 | CEP152 | c.2831A>G (p.Glu944Gly) c.2552A>G (p.Glu851Gly) c.872A>G (p.Glu291Gly) c.866A>G (p.Glu289Gly) n.3796A>G n.3782A>G | |
15 | g.48756417T>G | CA392343327 | CEP152 | c.2831A>C (p.Glu944Ala) c.2552A>C (p.Glu851Ala) c.872A>C (p.Glu291Ala) c.866A>C (p.Glu289Ala) n.3796A>C n.3782A>C | dbSNP gnomAD v4 |
15 | g.48756417T= | CA2175629237 | CEP152 | c.2831A= (p.Glu944=) c.2552A= (p.Glu851=) c.872A= (p.Glu291=) c.866A= (p.Glu289=) n.3796A= n.3782A= | |
15 | g.48756418C>A | CA392343328 | CEP152 | c.2830G>T (p.Glu944Ter) c.2551G>T (p.Glu851Ter) c.871G>T (p.Glu291Ter) c.865G>T (p.Glu289Ter) n.3795G>T n.3781G>T | |
15 | g.48756418C= | CA2175629240 | CEP152 | c.2830G= (p.Glu944=) c.2551G= (p.Glu851=) c.871G= (p.Glu291=) c.865G= (p.Glu289=) n.3795G= n.3781G= | |
15 | g.48756418C>G | CA392343329 | CEP152 | c.2830G>C (p.Glu944Gln) c.2551G>C (p.Glu851Gln) c.871G>C (p.Glu291Gln) c.865G>C (p.Glu289Gln) n.3795G>C n.3781G>C | |
15 | g.48756418C>T | CA392343330 | CEP152 | c.2830G>A (p.Glu944Lys) c.2551G>A (p.Glu851Lys) c.871G>A (p.Glu291Lys) c.865G>A (p.Glu289Lys) n.3795G>A n.3781G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756419T>A | CA392343331 | CEP152 | c.2829A>T (p.Glu943Asp) c.2550A>T (p.Glu850Asp) c.870A>T (p.Glu290Asp) c.864A>T (p.Glu288Asp) n.3794A>T n.3780A>T | |
15 | g.48756419T>C | CA490311373 | CEP152 | c.2829A>G (p.Glu943=) c.2550A>G (p.Glu850=) c.870A>G (p.Glu290=) c.864A>G (p.Glu288=) n.3794A>G n.3780A>G | gnomAD v4 |
15 | g.48756419T>G | CA392343332 | CEP152 | c.2829A>C (p.Glu943Asp) c.2550A>C (p.Glu850Asp) c.870A>C (p.Glu290Asp) c.864A>C (p.Glu288Asp) n.3794A>C n.3780A>C | |
15 | g.48756420T>A | CA392343333 | CEP152 | c.2828A>T (p.Glu943Val) c.2549A>T (p.Glu850Val) c.869A>T (p.Glu290Val) c.863A>T (p.Glu288Val) n.3793A>T n.3779A>T | |
15 | g.48756420T>C | CA7548467 | CEP152 | c.2828A>G (p.Glu943Gly) c.2549A>G (p.Glu850Gly) c.869A>G (p.Glu290Gly) c.863A>G (p.Glu288Gly) n.3793A>G n.3779A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756420T>G | CA392343334 | CEP152 | c.2828A>C (p.Glu943Ala) c.2549A>C (p.Glu850Ala) c.869A>C (p.Glu290Ala) c.863A>C (p.Glu288Ala) n.3793A>C n.3779A>C | COSMIC COSMIC |
15 | g.48756420T= | CA2175629244 | CEP152 | c.2828A= (p.Glu943=) c.2549A= (p.Glu850=) c.869A= (p.Glu290=) c.863A= (p.Glu288=) n.3793A= n.3779A= | |
15 | g.48756421C>A | CA392343336 | CEP152 | c.2827G>T (p.Glu943Ter) c.2548G>T (p.Glu850Ter) c.868G>T (p.Glu290Ter) c.862G>T (p.Glu288Ter) n.3792G>T n.3778G>T | |
15 | g.48756421C= | CA2175629251 | CEP152 | c.2827G= (p.Glu943=) c.2548G= (p.Glu850=) c.868G= (p.Glu290=) c.862G= (p.Glu288=) n.3792G= n.3778G= | |
15 | g.48756421C>G | CA392343335 | CEP152 | c.2827G>C (p.Glu943Gln) c.2548G>C (p.Glu850Gln) c.868G>C (p.Glu290Gln) c.862G>C (p.Glu288Gln) n.3792G>C n.3778G>C | |
15 | g.48756421C>T | CA211041 | CEP152 | c.2827G>A (p.Glu943Lys) c.2548G>A (p.Glu850Lys) c.868G>A (p.Glu290Lys) c.862G>A (p.Glu288Lys) n.3792G>A n.3778G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756422G>A | CA7548468 | CEP152 | c.2826C>T (p.Asn942=) c.2547C>T (p.Asn849=) c.867C>T (p.Asn289=) c.861C>T (p.Asn287=) n.3791C>T n.3777C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756422G>C | CA392343337 | CEP152 | c.2826C>G (p.Asn942Lys) c.2547C>G (p.Asn849Lys) c.867C>G (p.Asn289Lys) c.861C>G (p.Asn287Lys) n.3791C>G n.3777C>G | |
15 | g.48756422G= | CA2175629261 | CEP152 | c.2826C= (p.Asn942=) c.2547C= (p.Asn849=) c.867C= (p.Asn289=) c.861C= (p.Asn287=) n.3791C= n.3777C= | |
15 | g.48756422G>T | CA269538211 | CEP152 | c.2826C>A (p.Asn942Lys) c.2547C>A (p.Asn849Lys) c.867C>A (p.Asn289Lys) c.861C>A (p.Asn287Lys) n.3791C>A n.3777C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756423T>A | CA392343338 | CEP152 | c.2825A>T (p.Asn942Ile) c.2546A>T (p.Asn849Ile) c.866A>T (p.Asn289Ile) c.860A>T (p.Asn287Ile) n.3790A>T n.3776A>T | |
15 | g.48756423T>C | CA392343339 | CEP152 | c.2825A>G (p.Asn942Ser) c.2546A>G (p.Asn849Ser) c.866A>G (p.Asn289Ser) c.860A>G (p.Asn287Ser) n.3790A>G n.3776A>G | |
15 | g.48756423T>G | CA7548469 | CEP152 | c.2825A>C (p.Asn942Thr) c.2546A>C (p.Asn849Thr) c.866A>C (p.Asn289Thr) c.860A>C (p.Asn287Thr) n.3790A>C n.3776A>C | dbSNP ExAC gnomAD v2 |
15 | g.48756423T= | CA2175629267 | CEP152 | c.2825A= (p.Asn942=) c.2546A= (p.Asn849=) c.866A= (p.Asn289=) c.860A= (p.Asn287=) n.3790A= n.3776A= | |
15 | g.48756424T>A | CA392343340 | CEP152 | c.2824A>T (p.Asn942Tyr) c.2545A>T (p.Asn849Tyr) c.865A>T (p.Asn289Tyr) c.859A>T (p.Asn287Tyr) n.3789A>T n.3775A>T | |
15 | g.48756424T>C | CA392343341 | CEP152 | c.2824A>G (p.Asn942Asp) c.2545A>G (p.Asn849Asp) c.865A>G (p.Asn289Asp) c.859A>G (p.Asn287Asp) n.3789A>G n.3775A>G | |
15 | g.48756424T>G | CA392343342 | CEP152 | c.2824A>C (p.Asn942His) c.2545A>C (p.Asn849His) c.865A>C (p.Asn289His) c.859A>C (p.Asn287His) n.3789A>C n.3775A>C | |
15 | g.48756425C>A | CA392343343 | CEP152 | c.2823G>T (p.Lys941Asn) c.2544G>T (p.Lys848Asn) c.864G>T (p.Lys288Asn) c.858G>T (p.Lys286Asn) n.3788G>T n.3774G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756425C= | CA2175629269 | CEP152 | c.2823G= (p.Lys941=) c.2544G= (p.Lys848=) c.864G= (p.Lys288=) c.858G= (p.Lys286=) n.3788G= n.3774G= | |
15 | g.48756425C>G | CA392343344 | CEP152 | c.2823G>C (p.Lys941Asn) c.2544G>C (p.Lys848Asn) c.864G>C (p.Lys288Asn) c.858G>C (p.Lys286Asn) n.3788G>C n.3774G>C | |
15 | g.48756425C>T | CA490311374 | CEP152 | c.2823G>A (p.Lys941=) c.2544G>A (p.Lys848=) c.864G>A (p.Lys288=) c.858G>A (p.Lys286=) n.3788G>A n.3774G>A | |
15 | g.48756426T>A | CA392343346 | CEP152 | c.2822A>T (p.Lys941Met) c.2543A>T (p.Lys848Met) c.863A>T (p.Lys288Met) c.857A>T (p.Lys286Met) n.3787A>T n.3773A>T | |
15 | g.48756426T>C | CA392343347 | CEP152 | c.2822A>G (p.Lys941Arg) c.2543A>G (p.Lys848Arg) c.863A>G (p.Lys288Arg) c.857A>G (p.Lys286Arg) n.3787A>G n.3773A>G | |
15 | g.48756426T>G | CA392343345 | CEP152 | c.2822A>C (p.Lys941Thr) c.2543A>C (p.Lys848Thr) c.863A>C (p.Lys288Thr) c.857A>C (p.Lys286Thr) n.3787A>C n.3773A>C | |
15 | g.48756427T>A | CA392343348 | CEP152 | c.2821A>T (p.Lys941Ter) c.2542A>T (p.Lys848Ter) c.862A>T (p.Lys288Ter) c.856A>T (p.Lys286Ter) n.3786A>T n.3772A>T | |
15 | g.48756427T>C | CA392343349 | CEP152 | c.2821A>G (p.Lys941Glu) c.2542A>G (p.Lys848Glu) c.862A>G (p.Lys288Glu) c.856A>G (p.Lys286Glu) n.3786A>G n.3772A>G | |
15 | g.48756427T>G | CA392343350 | CEP152 | c.2821A>C (p.Lys941Gln) c.2542A>C (p.Lys848Gln) c.862A>C (p.Lys288Gln) c.856A>C (p.Lys286Gln) n.3786A>C n.3772A>C | COSMIC |
15 | g.48756428T>A | CA392343351 | CEP152 | c.2820A>T (p.Leu940Phe) c.2541A>T (p.Leu847Phe) c.861A>T (p.Leu287Phe) c.855A>T (p.Leu285Phe) n.3785A>T n.3771A>T | |
15 | g.48756428T>C | CA490311375 | CEP152 | c.2820A>G (p.Leu940=) c.2541A>G (p.Leu847=) c.861A>G (p.Leu287=) c.855A>G (p.Leu285=) n.3785A>G n.3771A>G | dbSNP gnomAD v4 |
15 | g.48756428T>G | CA392343352 | CEP152 | c.2820A>C (p.Leu940Phe) c.2541A>C (p.Leu847Phe) c.861A>C (p.Leu287Phe) c.855A>C (p.Leu285Phe) n.3785A>C n.3771A>C | |
15 | g.48756428T= | CA2175629272 | CEP152 | c.2820A= (p.Leu940=) c.2541A= (p.Leu847=) c.861A= (p.Leu287=) c.855A= (p.Leu285=) n.3785A= n.3771A= | |
15 | g.48756429A>C | CA392343353 | CEP152 | c.2819T>G (p.Leu940Ter) c.2540T>G (p.Leu847Ter) c.860T>G (p.Leu287Ter) c.854T>G (p.Leu285Ter) n.3784T>G n.3770T>G | |
15 | g.48756429A>G | CA392343354 | CEP152 | c.2819T>C (p.Leu940Ser) c.2540T>C (p.Leu847Ser) c.860T>C (p.Leu287Ser) c.854T>C (p.Leu285Ser) n.3784T>C n.3770T>C | |
15 | g.48756429A>T | CA392343355 | CEP152 | c.2819T>A (p.Leu940Ter) c.2540T>A (p.Leu847Ter) c.860T>A (p.Leu287Ter) c.854T>A (p.Leu285Ter) n.3784T>A n.3770T>A | |
15 | g.48756430A>C | CA392343356 | CEP152 | c.2818T>G (p.Leu940Val) c.2539T>G (p.Leu847Val) c.859T>G (p.Leu287Val) c.853T>G (p.Leu285Val) n.3783T>G n.3769T>G | |
15 | g.48756430A>G | CA490311376 | CEP152 | c.2818T>C (p.Leu940=) c.2539T>C (p.Leu847=) c.859T>C (p.Leu287=) c.853T>C (p.Leu285=) n.3783T>C n.3769T>C | |
15 | g.48756430A>T | CA392343357 | CEP152 | c.2818T>A (p.Leu940Ile) c.2539T>A (p.Leu847Ile) c.859T>A (p.Leu287Ile) c.853T>A (p.Leu285Ile) n.3783T>A n.3769T>A | |
15 | g.48756431C>A | CA392343358 | CEP152 | c.2817G>T (p.Glu939Asp) c.2538G>T (p.Glu846Asp) c.858G>T (p.Glu286Asp) c.852G>T (p.Glu284Asp) n.3782G>T n.3768G>T | |
15 | g.48756431C>G | CA392343359 | CEP152 | c.2817G>C (p.Glu939Asp) c.2538G>C (p.Glu846Asp) c.858G>C (p.Glu286Asp) c.852G>C (p.Glu284Asp) n.3782G>C n.3768G>C | |
15 | g.48756431C>T | CA490311377 | CEP152 | c.2817G>A (p.Glu939=) c.2538G>A (p.Glu846=) c.858G>A (p.Glu286=) c.852G>A (p.Glu284=) n.3782G>A n.3768G>A | |
15 | g.48756432T>A | CA392343361 | CEP152 | c.2816A>T (p.Glu939Val) c.2537A>T (p.Glu846Val) c.857A>T (p.Glu286Val) c.851A>T (p.Glu284Val) n.3781A>T n.3767A>T | |
15 | g.48756432T>C | CA392343362 | CEP152 | c.2816A>G (p.Glu939Gly) c.2537A>G (p.Glu846Gly) c.857A>G (p.Glu286Gly) c.851A>G (p.Glu284Gly) n.3781A>G n.3767A>G | |
15 | g.48756432T>G | CA392343360 | CEP152 | c.2816A>C (p.Glu939Ala) c.2537A>C (p.Glu846Ala) c.857A>C (p.Glu286Ala) c.851A>C (p.Glu284Ala) n.3781A>C n.3767A>C | |
15 | g.48756433C>A | CA392343363 | CEP152 | c.2815G>T (p.Glu939Ter) c.2536G>T (p.Glu846Ter) c.856G>T (p.Glu286Ter) c.850G>T (p.Glu284Ter) n.3780G>T n.3766G>T | |
15 | g.48756433C>G | CA392343364 | CEP152 | c.2815G>C (p.Glu939Gln) c.2536G>C (p.Glu846Gln) c.856G>C (p.Glu286Gln) c.850G>C (p.Glu284Gln) n.3780G>C n.3766G>C | gnomAD v4 |
15 | g.48756433C>T | CA392343365 | CEP152 | c.2815G>A (p.Glu939Lys) c.2536G>A (p.Glu846Lys) c.856G>A (p.Glu286Lys) c.850G>A (p.Glu284Lys) n.3780G>A n.3766G>A | |
15 | g.48756434A>C | CA490311379 | CEP152 | c.2814T>G (p.Leu938=) c.2535T>G (p.Leu845=) c.855T>G (p.Leu285=) c.849T>G (p.Leu283=) n.3779T>G n.3765T>G | ClinVar |
15 | g.48756434A>G | CA490311381 | CEP152 | c.2814T>C (p.Leu938=) c.2535T>C (p.Leu845=) c.855T>C (p.Leu285=) c.849T>C (p.Leu283=) n.3779T>C n.3765T>C | dbSNP |
15 | g.48756434A>T | CA490311380 | CEP152 | c.2814T>A (p.Leu938=) c.2535T>A (p.Leu845=) c.855T>A (p.Leu285=) c.849T>A (p.Leu283=) n.3779T>A n.3765T>A | |
15 | g.48756435A= | CA2175629275 | CEP152 | c.2813T= (p.Leu938=) c.2534T= (p.Leu845=) c.854T= (p.Leu285=) c.848T= (p.Leu283=) n.3778T= n.3764T= | |
15 | g.48756435A>C | CA392343366 | CEP152 | c.2813T>G (p.Leu938Arg) c.2534T>G (p.Leu845Arg) c.854T>G (p.Leu285Arg) c.848T>G (p.Leu283Arg) n.3778T>G n.3764T>G | |
15 | g.48756435A>G | CA392343367 | CEP152 | c.2813T>C (p.Leu938Pro) c.2534T>C (p.Leu845Pro) c.854T>C (p.Leu285Pro) c.848T>C (p.Leu283Pro) n.3778T>C n.3764T>C | dbSNP |
15 | g.48756435A>T | CA392343368 | CEP152 | c.2813T>A (p.Leu938His) c.2534T>A (p.Leu845His) c.854T>A (p.Leu285His) c.848T>A (p.Leu283His) n.3778T>A n.3764T>A | |
15 | g.48756436G>A | CA392343371 | CEP152 | c.2812C>T (p.Leu938Phe) c.2533C>T (p.Leu845Phe) c.853C>T (p.Leu285Phe) c.847C>T (p.Leu283Phe) n.3777C>T n.3763C>T | gnomAD v4 |
15 | g.48756436G>C | CA392343369 | CEP152 | c.2812C>G (p.Leu938Val) c.2533C>G (p.Leu845Val) c.853C>G (p.Leu285Val) c.847C>G (p.Leu283Val) n.3777C>G n.3763C>G | dbSNP gnomAD v4 |
15 | g.48756436G= | CA2175629278 | CEP152 | c.2812C= (p.Leu938=) c.2533C= (p.Leu845=) c.853C= (p.Leu285=) c.847C= (p.Leu283=) n.3777C= n.3763C= | |
15 | g.48756436G>T | CA392343370 | CEP152 | c.2812C>A (p.Leu938Ile) c.2533C>A (p.Leu845Ile) c.853C>A (p.Leu285Ile) c.847C>A (p.Leu283Ile) n.3777C>A n.3763C>A | |
15 | g.48756437T>A | CA392343372 | CEP152 | c.2811A>T (p.Glu937Asp) c.2532A>T (p.Glu844Asp) c.852A>T (p.Glu284Asp) c.846A>T (p.Glu282Asp) n.3776A>T n.3762A>T | |
15 | g.48756437T>C | CA490311383 | CEP152 | c.2811A>G (p.Glu937=) c.2532A>G (p.Glu844=) c.852A>G (p.Glu284=) c.846A>G (p.Glu282=) n.3776A>G n.3762A>G | ClinVar gnomAD v4 |
15 | g.48756437T>G | CA392343373 | CEP152 | c.2811A>C (p.Glu937Asp) c.2532A>C (p.Glu844Asp) c.852A>C (p.Glu284Asp) c.846A>C (p.Glu282Asp) n.3776A>C n.3762A>C | |
15 | g.48756438T>A | CA392343374 | CEP152 | c.2810A>T (p.Glu937Val) c.2531A>T (p.Glu844Val) c.851A>T (p.Glu284Val) c.845A>T (p.Glu282Val) n.3775A>T n.3761A>T | |
15 | g.48756438T>C | CA392343375 | CEP152 | c.2810A>G (p.Glu937Gly) c.2531A>G (p.Glu844Gly) c.851A>G (p.Glu284Gly) c.845A>G (p.Glu282Gly) n.3775A>G n.3761A>G | |
15 | g.48756438T>G | CA392343376 | CEP152 | c.2810A>C (p.Glu937Ala) c.2531A>C (p.Glu844Ala) c.851A>C (p.Glu284Ala) c.845A>C (p.Glu282Ala) n.3775A>C n.3761A>C | |
15 | g.48756439C>A | CA392343378 | CEP152 | c.2809G>T (p.Glu937Ter) c.2530G>T (p.Glu844Ter) c.850G>T (p.Glu284Ter) c.844G>T (p.Glu282Ter) n.3774G>T n.3760G>T | |
15 | g.48756439C= | CA2175629281 | CEP152 | c.2809G= (p.Glu937=) c.2530G= (p.Glu844=) c.850G= (p.Glu284=) c.844G= (p.Glu282=) n.3774G= n.3760G= | |
15 | g.48756439C>G | CA7548470 | CEP152 | c.2809G>C (p.Glu937Gln) c.2530G>C (p.Glu844Gln) c.850G>C (p.Glu284Gln) c.844G>C (p.Glu282Gln) n.3774G>C n.3760G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756439C>T | CA392343377 | CEP152 | c.2809G>A (p.Glu937Lys) c.2530G>A (p.Glu844Lys) c.850G>A (p.Glu284Lys) c.844G>A (p.Glu282Lys) n.3774G>A n.3760G>A | |
15 | g.48756440C>A | CA392343379 | CEP152 | c.2808G>T (p.Lys936Asn) c.2529G>T (p.Lys843Asn) c.849G>T (p.Lys283Asn) c.843G>T (p.Lys281Asn) n.3773G>T n.3759G>T | |
15 | g.48756440C>G | CA392343380 | CEP152 | c.2808G>C (p.Lys936Asn) c.2529G>C (p.Lys843Asn) c.849G>C (p.Lys283Asn) c.843G>C (p.Lys281Asn) n.3773G>C n.3759G>C | |
15 | g.48756440C>T | CA490311387 | CEP152 | c.2808G>A (p.Lys936=) c.2529G>A (p.Lys843=) c.849G>A (p.Lys283=) c.843G>A (p.Lys281=) n.3773G>A n.3759G>A | |
15 | g.48756441T>A | CA392343381 | CEP152 | c.2807A>T (p.Lys936Met) c.2528A>T (p.Lys843Met) c.848A>T (p.Lys283Met) c.842A>T (p.Lys281Met) n.3772A>T n.3758A>T | |
15 | g.48756441T>C | CA7548471 | CEP152 | c.2807A>G (p.Lys936Arg) c.2528A>G (p.Lys843Arg) c.848A>G (p.Lys283Arg) c.842A>G (p.Lys281Arg) n.3772A>G n.3758A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756441T>G | CA392343382 | CEP152 | c.2807A>C (p.Lys936Thr) c.2528A>C (p.Lys843Thr) c.848A>C (p.Lys283Thr) c.842A>C (p.Lys281Thr) n.3772A>C n.3758A>C | |
15 | g.48756441T= | CA2175629286 | CEP152 | c.2807A= (p.Lys936=) c.2528A= (p.Lys843=) c.848A= (p.Lys283=) c.842A= (p.Lys281=) n.3772A= n.3758A= | |
15 | g.48756442T>A | CA392343383 | CEP152 | c.2806A>T (p.Lys936Ter) c.2527A>T (p.Lys843Ter) c.847A>T (p.Lys283Ter) c.841A>T (p.Lys281Ter) n.3771A>T n.3757A>T | |
15 | g.48756442T>C | CA392343385 | CEP152 | c.2806A>G (p.Lys936Glu) c.2527A>G (p.Lys843Glu) c.847A>G (p.Lys283Glu) c.841A>G (p.Lys281Glu) n.3771A>G n.3757A>G | |
15 | g.48756442T>G | CA392343384 | CEP152 | c.2806A>C (p.Lys936Gln) c.2527A>C (p.Lys843Gln) c.847A>C (p.Lys283Gln) c.841A>C (p.Lys281Gln) n.3771A>C n.3757A>C | |
15 | g.48756442T= | CA2175629288 | CEP152 | c.2806A= (p.Lys936=) c.2527A= (p.Lys843=) c.847A= (p.Lys283=) c.841A= (p.Lys281=) n.3771A= n.3757A= | |
15 | g.48756443C>A | CA392343386 | CEP152 | c.2805G>T (p.Gln935His) c.2526G>T (p.Gln842His) c.846G>T (p.Gln282His) c.840G>T (p.Gln280His) n.3770G>T n.3756G>T | gnomAD v4 |
15 | g.48756443C>G | CA392343387 | CEP152 | c.2805G>C (p.Gln935His) c.2526G>C (p.Gln842His) c.846G>C (p.Gln282His) c.840G>C (p.Gln280His) n.3770G>C n.3756G>C | |
15 | g.48756443C>T | CA490311390 | CEP152 | c.2805G>A (p.Gln935=) c.2526G>A (p.Gln842=) c.846G>A (p.Gln282=) c.840G>A (p.Gln280=) n.3770G>A n.3756G>A | |
15 | g.48756443dup | CA7548472 | CEP152 | c.2805dup (p.Lys936GlufsTer4) c.2526dup (p.Lys843GlufsTer4) c.846dup (p.Lys283GlufsTer4) c.840dup (p.Lys281GlufsTer4) n.3770dup n.3756dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756444T>A | CA392343388 | CEP152 | c.2804A>T (p.Gln935Leu) c.2525A>T (p.Gln842Leu) c.845A>T (p.Gln282Leu) c.839A>T (p.Gln280Leu) n.3769A>T n.3755A>T | |
15 | g.48756444T>C | CA7548473 | CEP152 | c.2804A>G (p.Gln935Arg) c.2525A>G (p.Gln842Arg) c.845A>G (p.Gln282Arg) c.839A>G (p.Gln280Arg) n.3769A>G n.3755A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756444T>G | CA392343389 | CEP152 | c.2804A>C (p.Gln935Pro) c.2525A>C (p.Gln842Pro) c.845A>C (p.Gln282Pro) c.839A>C (p.Gln280Pro) n.3769A>C n.3755A>C | |
15 | g.48756444T= | CA2175629298 | CEP152 | c.2804A= (p.Gln935=) c.2525A= (p.Gln842=) c.845A= (p.Gln282=) c.839A= (p.Gln280=) n.3769A= n.3755A= | |
15 | g.48756444_48756445insTCA | CA618009412 | CEP152 | c.2803_2804insTGA (p.Gln935delinsLeuLys) c.2524_2525insTGA (p.Gln842delinsLeuLys) c.844_845insTGA (p.Gln282delinsLeuLys) c.838_839insTGA (p.Gln280delinsLeuLys) n.3768_3769insTGA n.3754_3755insTGA | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756445G>A | CA392343390 | CEP152 | c.2803C>T (p.Gln935Ter) c.2524C>T (p.Gln842Ter) c.844C>T (p.Gln282Ter) c.838C>T (p.Gln280Ter) n.3768C>T n.3754C>T | |
15 | g.48756445G>C | CA392343391 | CEP152 | c.2803C>G (p.Gln935Glu) c.2524C>G (p.Gln842Glu) c.844C>G (p.Gln282Glu) c.838C>G (p.Gln280Glu) n.3768C>G n.3754C>G | |
15 | g.48756445G>T | CA392343392 | CEP152 | c.2803C>A (p.Gln935Lys) c.2524C>A (p.Gln842Lys) c.844C>A (p.Gln282Lys) c.838C>A (p.Gln280Lys) n.3768C>A n.3754C>A | gnomAD v4 |
15 | g.48756446A>C | CA490311391 | CEP152 | c.2802T>G (p.Leu934=) c.2523T>G (p.Leu841=) c.843T>G (p.Leu281=) c.837T>G (p.Leu279=) n.3767T>G n.3753T>G | |
15 | g.48756446A>G | CA490311393 | CEP152 | c.2802T>C (p.Leu934=) c.2523T>C (p.Leu841=) c.843T>C (p.Leu281=) c.837T>C (p.Leu279=) n.3767T>C n.3753T>C | |
15 | g.48756446A>T | CA490311394 | CEP152 | c.2802T>A (p.Leu934=) c.2523T>A (p.Leu841=) c.843T>A (p.Leu281=) c.837T>A (p.Leu279=) n.3767T>A n.3753T>A | |
15 | g.48756447A>C | CA392343395 | CEP152 | c.2801T>G (p.Leu934Arg) c.2522T>G (p.Leu841Arg) c.842T>G (p.Leu281Arg) c.836T>G (p.Leu279Arg) n.3766T>G n.3752T>G | |
15 | g.48756447A>G | CA392343394 | CEP152 | c.2801T>C (p.Leu934Pro) c.2522T>C (p.Leu841Pro) c.842T>C (p.Leu281Pro) c.836T>C (p.Leu279Pro) n.3766T>C n.3752T>C | |
15 | g.48756447A>T | CA392343393 | CEP152 | c.2801T>A (p.Leu934His) c.2522T>A (p.Leu841His) c.842T>A (p.Leu281His) c.836T>A (p.Leu279His) n.3766T>A n.3752T>A | |
15 | g.48756450_48756451del | CA2628343539 | CEP152 | c.2800_2801del (p.Leu934SerfsTer5) c.2521_2522del (p.Leu841SerfsTer5) c.841_842del (p.Leu281SerfsTer5) c.835_836del (p.Leu279SerfsTer5) n.3765_3766del n.3751_3752del | gnomAD v4 |
15 | g.48756448G>A | CA392343396 | CEP152 | c.2800C>T (p.Leu934Phe) c.2521C>T (p.Leu841Phe) c.841C>T (p.Leu281Phe) c.835C>T (p.Leu279Phe) n.3765C>T n.3751C>T | dbSNP COSMIC COSMIC |
15 | g.48756448G>C | CA392343397 | CEP152 | c.2800C>G (p.Leu934Val) c.2521C>G (p.Leu841Val) c.841C>G (p.Leu281Val) c.835C>G (p.Leu279Val) n.3765C>G n.3751C>G | |
15 | g.48756448G= | CA2175629305 | CEP152 | c.2800C= (p.Leu934=) c.2521C= (p.Leu841=) c.841C= (p.Leu281=) c.835C= (p.Leu279=) n.3765C= n.3751C= | |
15 | g.48756448G>T | CA392343398 | CEP152 | c.2800C>A (p.Leu934Ile) c.2521C>A (p.Leu841Ile) c.841C>A (p.Leu281Ile) c.835C>A (p.Leu279Ile) n.3765C>A n.3751C>A | |
15 | g.48756449A>C | CA490311396 | CEP152 | c.2799T>G (p.Ser933=) c.2520T>G (p.Ser840=) c.840T>G (p.Ser280=) c.834T>G (p.Ser278=) n.3764T>G n.3750T>G | |
15 | g.48756449A>G | CA490311398 | CEP152 | c.2799T>C (p.Ser933=) c.2520T>C (p.Ser840=) c.840T>C (p.Ser280=) c.834T>C (p.Ser278=) n.3764T>C n.3750T>C | |
15 | g.48756449A>T | CA490311397 | CEP152 | c.2799T>A (p.Ser933=) c.2520T>A (p.Ser840=) c.840T>A (p.Ser280=) c.834T>A (p.Ser278=) n.3764T>A n.3750T>A | |
15 | g.48756450G>A | CA392343399 | CEP152 | c.2798C>T (p.Ser933Phe) c.2519C>T (p.Ser840Phe) c.839C>T (p.Ser280Phe) c.833C>T (p.Ser278Phe) n.3763C>T n.3749C>T | |
15 | g.48756450G>C | CA392343400 | CEP152 | c.2798C>G (p.Ser933Cys) c.2519C>G (p.Ser840Cys) c.839C>G (p.Ser280Cys) c.833C>G (p.Ser278Cys) n.3763C>G n.3749C>G | |
15 | g.48756450G>T | CA392343401 | CEP152 | c.2798C>A (p.Ser933Tyr) c.2519C>A (p.Ser840Tyr) c.839C>A (p.Ser280Tyr) c.833C>A (p.Ser278Tyr) n.3763C>A n.3749C>A | |
15 | g.48756451A= | CA2175629308 | CEP152 | c.2797T= (p.Ser933=) c.2518T= (p.Ser840=) c.838T= (p.Ser280=) c.832T= (p.Ser278=) n.3762T= n.3748T= | |
15 | g.48756451A>C | CA392343402 | CEP152 | c.2797T>G (p.Ser933Ala) c.2518T>G (p.Ser840Ala) c.838T>G (p.Ser280Ala) c.832T>G (p.Ser278Ala) n.3762T>G n.3748T>G | |
15 | g.48756451A>G | CA269538239 | CEP152 | c.2797T>C (p.Ser933Pro) c.2518T>C (p.Ser840Pro) c.838T>C (p.Ser280Pro) c.832T>C (p.Ser278Pro) n.3762T>C n.3748T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756451A>T | CA392343403 | CEP152 | c.2797T>A (p.Ser933Thr) c.2518T>A (p.Ser840Thr) c.838T>A (p.Ser280Thr) c.832T>A (p.Ser278Thr) n.3762T>A n.3748T>A | |
15 | g.48756452A= | CA2175629312 | CEP152 | c.2796T= (p.His932=) c.2517T= (p.His839=) c.837T= (p.His279=) c.831T= (p.His277=) n.3761T= n.3747T= | |
15 | g.48756452A>C | CA269538246 | CEP152 | c.2796T>G (p.His932Gln) c.2517T>G (p.His839Gln) c.837T>G (p.His279Gln) c.831T>G (p.His277Gln) n.3761T>G n.3747T>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756452A>G | CA490311399 | CEP152 | c.2796T>C (p.His932=) c.2517T>C (p.His839=) c.837T>C (p.His279=) c.831T>C (p.His277=) n.3761T>C n.3747T>C | |
15 | g.48756452A>T | CA392343404 | CEP152 | c.2796T>A (p.His932Gln) c.2517T>A (p.His839Gln) c.837T>A (p.His279Gln) c.831T>A (p.His277Gln) n.3761T>A n.3747T>A | |
15 | g.48756453T>A | CA392343406 | CEP152 | c.2795A>T (p.His932Leu) c.2516A>T (p.His839Leu) c.836A>T (p.His279Leu) c.830A>T (p.His277Leu) n.3760A>T n.3746A>T | |
15 | g.48756453T>C | CA392343407 | CEP152 | c.2795A>G (p.His932Arg) c.2516A>G (p.His839Arg) c.836A>G (p.His279Arg) c.830A>G (p.His277Arg) n.3760A>G n.3746A>G | gnomAD v4 |
15 | g.48756453T>G | CA392343405 | CEP152 | c.2795A>C (p.His932Pro) c.2516A>C (p.His839Pro) c.836A>C (p.His279Pro) c.830A>C (p.His277Pro) n.3760A>C n.3746A>C | |
15 | g.48756454G>A | CA392343408 | CEP152 | c.2794C>T (p.His932Tyr) c.2515C>T (p.His839Tyr) c.835C>T (p.His279Tyr) c.829C>T (p.His277Tyr) n.3759C>T n.3745C>T | |
15 | g.48756454G>C | CA392343409 | CEP152 | c.2794C>G (p.His932Asp) c.2515C>G (p.His839Asp) c.835C>G (p.His279Asp) c.829C>G (p.His277Asp) n.3759C>G n.3745C>G | gnomAD v4 |
15 | g.48756454G>T | CA392343410 | CEP152 | c.2794C>A (p.His932Asn) c.2515C>A (p.His839Asn) c.835C>A (p.His279Asn) c.829C>A (p.His277Asn) n.3759C>A n.3745C>A | |
15 | g.48756455A>C | CA392343411 | CEP152 | c.2793T>G (p.Ile931Met) c.2514T>G (p.Ile838Met) c.834T>G (p.Ile278Met) c.828T>G (p.Ile276Met) n.3758T>G n.3744T>G | |
15 | g.48756455A>G | CA490311403 | CEP152 | c.2793T>C (p.Ile931=) c.2514T>C (p.Ile838=) c.834T>C (p.Ile278=) c.828T>C (p.Ile276=) n.3758T>C n.3744T>C | |
15 | g.48756455A>T | CA490311402 | CEP152 | c.2793T>A (p.Ile931=) c.2514T>A (p.Ile838=) c.834T>A (p.Ile278=) c.828T>A (p.Ile276=) n.3758T>A n.3744T>A | ClinVar |
15 | g.48756456A= | CA2175629314 | CEP152 | c.2792T= (p.Ile931=) c.2513T= (p.Ile838=) c.833T= (p.Ile278=) c.827T= (p.Ile276=) n.3757T= n.3743T= | |
15 | g.48756456A>C | CA392343414 | CEP152 | c.2792T>G (p.Ile931Ser) c.2513T>G (p.Ile838Ser) c.833T>G (p.Ile278Ser) c.827T>G (p.Ile276Ser) n.3757T>G n.3743T>G | dbSNP |
15 | g.48756456A>G | CA392343413 | CEP152 | c.2792T>C (p.Ile931Thr) c.2513T>C (p.Ile838Thr) c.833T>C (p.Ile278Thr) c.827T>C (p.Ile276Thr) n.3757T>C n.3743T>C | |
15 | g.48756456A>T | CA392343412 | CEP152 | c.2792T>A (p.Ile931Asn) c.2513T>A (p.Ile838Asn) c.833T>A (p.Ile278Asn) c.827T>A (p.Ile276Asn) n.3757T>A n.3743T>A | |
15 | g.48756457T>A | CA392343415 | CEP152 | c.2791A>T (p.Ile931Phe) c.2512A>T (p.Ile838Phe) c.832A>T (p.Ile278Phe) c.826A>T (p.Ile276Phe) n.3756A>T n.3742A>T | gnomAD v4 |
15 | g.48756457T>C | CA392343416 | CEP152 | c.2791A>G (p.Ile931Val) c.2512A>G (p.Ile838Val) c.832A>G (p.Ile278Val) c.826A>G (p.Ile276Val) n.3756A>G n.3742A>G | gnomAD v4 |
15 | g.48756457T>G | CA392343417 | CEP152 | c.2791A>C (p.Ile931Leu) c.2512A>C (p.Ile838Leu) c.832A>C (p.Ile278Leu) c.826A>C (p.Ile276Leu) n.3756A>C n.3742A>C | |
15 | g.48756458C>A | CA392343418 | CEP152 | c.2790G>T (p.Lys930Asn) c.2511G>T (p.Lys837Asn) c.831G>T (p.Lys277Asn) c.825G>T (p.Lys275Asn) n.3755G>T n.3741G>T | dbSNP gnomAD v4 |
15 | g.48756458C= | CA2175629320 | CEP152 | c.2790G= (p.Lys930=) c.2511G= (p.Lys837=) c.831G= (p.Lys277=) c.825G= (p.Lys275=) n.3755G= n.3741G= | |
15 | g.48756458C>G | CA7548474 | CEP152 | c.2790G>C (p.Lys930Asn) c.2511G>C (p.Lys837Asn) c.831G>C (p.Lys277Asn) c.825G>C (p.Lys275Asn) n.3755G>C n.3741G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756458C>T | CA7548475 | CEP152 | c.2790G>A (p.Lys930=) c.2511G>A (p.Lys837=) c.831G>A (p.Lys277=) c.825G>A (p.Lys275=) n.3755G>A n.3741G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756459T>A | CA392343419 | CEP152 | c.2789A>T (p.Lys930Met) c.2510A>T (p.Lys837Met) c.830A>T (p.Lys277Met) c.824A>T (p.Lys275Met) n.3754A>T n.3740A>T | |
15 | g.48756459T>C | CA392343421 | CEP152 | c.2789A>G (p.Lys930Arg) c.2510A>G (p.Lys837Arg) c.830A>G (p.Lys277Arg) c.824A>G (p.Lys275Arg) n.3754A>G n.3740A>G | gnomAD v4 |
15 | g.48756459T>G | CA392343420 | CEP152 | c.2789A>C (p.Lys930Thr) c.2510A>C (p.Lys837Thr) c.830A>C (p.Lys277Thr) c.824A>C (p.Lys275Thr) n.3754A>C n.3740A>C | |
15 | g.48756460T>A | CA392343422 | CEP152 | c.2788A>T (p.Lys930Ter) c.2509A>T (p.Lys837Ter) c.829A>T (p.Lys277Ter) c.823A>T (p.Lys275Ter) n.3753A>T n.3739A>T | |
15 | g.48756460T>C | CA392343423 | CEP152 | c.2788A>G (p.Lys930Glu) c.2509A>G (p.Lys837Glu) c.829A>G (p.Lys277Glu) c.823A>G (p.Lys275Glu) n.3753A>G n.3739A>G | |
15 | g.48756460T>G | CA392343424 | CEP152 | c.2788A>C (p.Lys930Gln) c.2509A>C (p.Lys837Gln) c.829A>C (p.Lys277Gln) c.823A>C (p.Lys275Gln) n.3753A>C n.3739A>C | |
15 | g.48756461C>A | CA392343425 | CEP152 | c.2787G>T (p.Glu929Asp) c.2508G>T (p.Glu836Asp) c.828G>T (p.Glu276Asp) c.822G>T (p.Glu274Asp) n.3752G>T n.3738G>T | |
15 | g.48756461C>G | CA392343426 | CEP152 | c.2787G>C (p.Glu929Asp) c.2508G>C (p.Glu836Asp) c.828G>C (p.Glu276Asp) c.822G>C (p.Glu274Asp) n.3752G>C n.3738G>C | |
15 | g.48756461C>T | CA490311409 | CEP152 | c.2787G>A (p.Glu929=) c.2508G>A (p.Glu836=) c.828G>A (p.Glu276=) c.822G>A (p.Glu274=) n.3752G>A n.3738G>A | |
15 | g.48756462T>A | CA392343427 | CEP152 | c.2786A>T (p.Glu929Val) c.2507A>T (p.Glu836Val) c.827A>T (p.Glu276Val) c.821A>T (p.Glu274Val) n.3751A>T n.3737A>T | |
15 | g.48756462T>C | CA392343428 | CEP152 | c.2786A>G (p.Glu929Gly) c.2507A>G (p.Glu836Gly) c.827A>G (p.Glu276Gly) c.821A>G (p.Glu274Gly) n.3751A>G n.3737A>G | gnomAD v4 |
15 | g.48756462T>G | CA392343429 | CEP152 | c.2786A>C (p.Glu929Ala) c.2507A>C (p.Glu836Ala) c.827A>C (p.Glu276Ala) c.821A>C (p.Glu274Ala) n.3751A>C n.3737A>C | |
15 | g.48756463C>A | CA392343430 | CEP152 | c.2785G>T (p.Glu929Ter) c.2506G>T (p.Glu836Ter) c.826G>T (p.Glu276Ter) c.820G>T (p.Glu274Ter) n.3750G>T n.3736G>T | |
15 | g.48756463C>G | CA392343431 | CEP152 | c.2785G>C (p.Glu929Gln) c.2506G>C (p.Glu836Gln) c.826G>C (p.Glu276Gln) c.820G>C (p.Glu274Gln) n.3750G>C n.3736G>C | |
15 | g.48756463C>T | CA392343432 | CEP152 | c.2785G>A (p.Glu929Lys) c.2506G>A (p.Glu836Lys) c.826G>A (p.Glu276Lys) c.820G>A (p.Glu274Lys) n.3750G>A n.3736G>A | |
15 | g.48756464T>A | CA392343434 | CEP152 | c.2784A>T (p.Glu928Asp) c.2505A>T (p.Glu835Asp) c.825A>T (p.Glu275Asp) c.819A>T (p.Glu273Asp) n.3749A>T n.3735A>T | |
15 | g.48756464T>C | CA490311411 | CEP152 | c.2784A>G (p.Glu928=) c.2505A>G (p.Glu835=) c.825A>G (p.Glu275=) c.819A>G (p.Glu273=) n.3749A>G n.3735A>G | |
15 | g.48756464T>G | CA392343433 | CEP152 | c.2784A>C (p.Glu928Asp) c.2505A>C (p.Glu835Asp) c.825A>C (p.Glu275Asp) c.819A>C (p.Glu273Asp) n.3749A>C n.3735A>C | |
15 | g.48756465T>A | CA392343435 | CEP152 | c.2783A>T (p.Glu928Val) c.2504A>T (p.Glu835Val) c.824A>T (p.Glu275Val) c.818A>T (p.Glu273Val) n.3748A>T n.3734A>T | |
15 | g.48756465T>C | CA392343436 | CEP152 | c.2783A>G (p.Glu928Gly) c.2504A>G (p.Glu835Gly) c.824A>G (p.Glu275Gly) c.818A>G (p.Glu273Gly) n.3748A>G n.3734A>G | |
15 | g.48756465T>G | CA392343437 | CEP152 | c.2783A>C (p.Glu928Ala) c.2504A>C (p.Glu835Ala) c.824A>C (p.Glu275Ala) c.818A>C (p.Glu273Ala) n.3748A>C n.3734A>C | dbSNP |
15 | g.48756465T= | CA2175629326 | CEP152 | c.2783A= (p.Glu928=) c.2504A= (p.Glu835=) c.824A= (p.Glu275=) c.818A= (p.Glu273=) n.3748A= n.3734A= | |
15 | g.48756466C>A | CA392343438 | CEP152 | c.2782G>T (p.Glu928Ter) c.2503G>T (p.Glu835Ter) c.823G>T (p.Glu275Ter) c.817G>T (p.Glu273Ter) n.3747G>T n.3733G>T | |
15 | g.48756466C>G | CA392343439 | CEP152 | c.2782G>C (p.Glu928Gln) c.2503G>C (p.Glu835Gln) c.823G>C (p.Glu275Gln) c.817G>C (p.Glu273Gln) n.3747G>C n.3733G>C | |
15 | g.48756466C>T | CA392343440 | CEP152 | c.2782G>A (p.Glu928Lys) c.2503G>A (p.Glu835Lys) c.823G>A (p.Glu275Lys) c.817G>A (p.Glu273Lys) n.3747G>A n.3733G>A | |
15 | g.48756467C>A | CA392343441 | CEP152 | c.2781G>T (p.Leu927Phe) c.2502G>T (p.Leu834Phe) c.822G>T (p.Leu274Phe) c.816G>T (p.Leu272Phe) n.3746G>T n.3732G>T | |
15 | g.48756467C>G | CA392343442 | CEP152 | c.2781G>C (p.Leu927Phe) c.2502G>C (p.Leu834Phe) c.822G>C (p.Leu274Phe) c.816G>C (p.Leu272Phe) n.3746G>C n.3732G>C | COSMIC COSMIC |
15 | g.48756467C>T | CA490311414 | CEP152 | c.2781G>A (p.Leu927=) c.2502G>A (p.Leu834=) c.822G>A (p.Leu274=) c.816G>A (p.Leu272=) n.3746G>A n.3732G>A | gnomAD v4 |
15 | g.48756468A>C | CA392343443 | CEP152 | c.2780T>G (p.Leu927Trp) c.2501T>G (p.Leu834Trp) c.821T>G (p.Leu274Trp) c.815T>G (p.Leu272Trp) n.3745T>G n.3731T>G | |
15 | g.48756468A>G | CA392343445 | CEP152 | c.2780T>C (p.Leu927Ser) c.2501T>C (p.Leu834Ser) c.821T>C (p.Leu274Ser) c.815T>C (p.Leu272Ser) n.3745T>C n.3731T>C | |
15 | g.48756468A>T | CA392343444 | CEP152 | c.2780T>A (p.Leu927Ter) c.2501T>A (p.Leu834Ter) c.821T>A (p.Leu274Ter) c.815T>A (p.Leu272Ter) n.3745T>A n.3731T>A | |
15 | g.48756469A= | CA2175629328 | CEP152 | c.2779T= (p.Leu927=) c.2500T= (p.Leu834=) c.820T= (p.Leu274=) c.814T= (p.Leu272=) n.3744T= n.3730T= | |
15 | g.48756469A>C | CA392343446 | CEP152 | c.2779T>G (p.Leu927Val) c.2500T>G (p.Leu834Val) c.820T>G (p.Leu274Val) c.814T>G (p.Leu272Val) n.3744T>G n.3730T>G | |
15 | g.48756469A>G | CA490311415 | CEP152 | c.2779T>C (p.Leu927=) c.2500T>C (p.Leu834=) c.820T>C (p.Leu274=) c.814T>C (p.Leu272=) n.3744T>C n.3730T>C | dbSNP gnomAD v4 |
15 | g.48756469A>T | CA392343447 | CEP152 | c.2779T>A (p.Leu927Met) c.2500T>A (p.Leu834Met) c.820T>A (p.Leu274Met) c.814T>A (p.Leu272Met) n.3744T>A n.3730T>A | |
15 | g.48756470T>A | CA392343448 | CEP152 | c.2778A>T (p.Glu926Asp) c.2499A>T (p.Glu833Asp) c.819A>T (p.Glu273Asp) c.813A>T (p.Glu271Asp) n.3743A>T n.3729A>T | |
15 | g.48756470T>C | CA490311418 | CEP152 | c.2778A>G (p.Glu926=) c.2499A>G (p.Glu833=) c.819A>G (p.Glu273=) c.813A>G (p.Glu271=) n.3743A>G n.3729A>G | |
15 | g.48756470T>G | CA392343449 | CEP152 | c.2778A>C (p.Glu926Asp) c.2499A>C (p.Glu833Asp) c.819A>C (p.Glu273Asp) c.813A>C (p.Glu271Asp) n.3743A>C n.3729A>C | |
15 | g.48756471T>A | CA211038 | CEP152 | c.2777A>T (p.Glu926Val) c.2498A>T (p.Glu833Val) c.818A>T (p.Glu273Val) c.812A>T (p.Glu271Val) n.3742A>T n.3728A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756471T>C | CA392343451 | CEP152 | c.2777A>G (p.Glu926Gly) c.2498A>G (p.Glu833Gly) c.818A>G (p.Glu273Gly) c.812A>G (p.Glu271Gly) n.3742A>G n.3728A>G | |
15 | g.48756471T>G | CA392343450 | CEP152 | c.2777A>C (p.Glu926Ala) c.2498A>C (p.Glu833Ala) c.818A>C (p.Glu273Ala) c.812A>C (p.Glu271Ala) n.3742A>C n.3728A>C | |
15 | g.48756471T= | CA2175629333 | CEP152 | c.2777A= (p.Glu926=) c.2498A= (p.Glu833=) c.818A= (p.Glu273=) c.812A= (p.Glu271=) n.3742A= n.3728A= | |
15 | g.48756472C>A | CA392343452 | CEP152 | c.2776G>T (p.Glu926Ter) c.2497G>T (p.Glu833Ter) c.817G>T (p.Glu273Ter) c.811G>T (p.Glu271Ter) n.3741G>T n.3727G>T | dbSNP |
15 | g.48756472C= | CA2175629336 | CEP152 | c.2776G= (p.Glu926=) c.2497G= (p.Glu833=) c.817G= (p.Glu273=) c.811G= (p.Glu271=) n.3741G= n.3727G= | |
15 | g.48756472C>G | CA392343453 | CEP152 | c.2776G>C (p.Glu926Gln) c.2497G>C (p.Glu833Gln) c.817G>C (p.Glu273Gln) c.811G>C (p.Glu271Gln) n.3741G>C n.3727G>C | |
15 | g.48756472C>T | CA392343454 | CEP152 | c.2776G>A (p.Glu926Lys) c.2497G>A (p.Glu833Lys) c.817G>A (p.Glu273Lys) c.811G>A (p.Glu271Lys) n.3741G>A n.3727G>A | |
15 | g.48756473C>A | CA392343455 | CEP152 | c.2775G>T (p.Lys925Asn) c.2496G>T (p.Lys832Asn) c.816G>T (p.Lys272Asn) c.810G>T (p.Lys270Asn) n.3740G>T n.3726G>T | |
15 | g.48756473C>G | CA392343456 | CEP152 | c.2775G>C (p.Lys925Asn) c.2496G>C (p.Lys832Asn) c.816G>C (p.Lys272Asn) c.810G>C (p.Lys270Asn) n.3740G>C n.3726G>C | |
15 | g.48756473C>T | CA490311419 | CEP152 | c.2775G>A (p.Lys925=) c.2496G>A (p.Lys832=) c.816G>A (p.Lys272=) c.810G>A (p.Lys270=) n.3740G>A n.3726G>A | |
15 | g.48756474T>A | CA392343457 | CEP152 | c.2774A>T (p.Lys925Met) c.2495A>T (p.Lys832Met) c.815A>T (p.Lys272Met) c.809A>T (p.Lys270Met) n.3739A>T n.3725A>T | |
15 | g.48756474T>C | CA392343458 | CEP152 | c.2774A>G (p.Lys925Arg) c.2495A>G (p.Lys832Arg) c.815A>G (p.Lys272Arg) c.809A>G (p.Lys270Arg) n.3739A>G n.3725A>G | |
15 | g.48756474T>G | CA392343459 | CEP152 | c.2774A>C (p.Lys925Thr) c.2495A>C (p.Lys832Thr) c.815A>C (p.Lys272Thr) c.809A>C (p.Lys270Thr) n.3739A>C n.3725A>C | |
15 | g.48756475T>A | CA392343460 | CEP152 | c.2773A>T (p.Lys925Ter) c.2494A>T (p.Lys832Ter) c.814A>T (p.Lys272Ter) c.808A>T (p.Lys270Ter) n.3738A>T n.3724A>T | |
15 | g.48756475T>C | CA392343461 | CEP152 | c.2773A>G (p.Lys925Glu) c.2494A>G (p.Lys832Glu) c.814A>G (p.Lys272Glu) c.808A>G (p.Lys270Glu) n.3738A>G n.3724A>G | |
15 | g.48756475T>G | CA392343462 | CEP152 | c.2773A>C (p.Lys925Gln) c.2494A>C (p.Lys832Gln) c.814A>C (p.Lys272Gln) c.808A>C (p.Lys270Gln) n.3738A>C n.3724A>C | gnomAD v4 |
15 | g.48756476T>A | CA490311421 | CEP152 | c.2772A>T (p.Gly924=) c.2493A>T (p.Gly831=) c.813A>T (p.Gly271=) c.807A>T (p.Gly269=) n.3737A>T n.3723A>T | |
15 | g.48756476T>C | CA7548476 | CEP152 | c.2772A>G (p.Gly924=) c.2493A>G (p.Gly831=) c.813A>G (p.Gly271=) c.807A>G (p.Gly269=) n.3737A>G n.3723A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756476T>G | CA490311422 | CEP152 | c.2772A>C (p.Gly924=) c.2493A>C (p.Gly831=) c.813A>C (p.Gly271=) c.807A>C (p.Gly269=) n.3737A>C n.3723A>C | |
15 | g.48756476T= | CA2175629341 | CEP152 | c.2772A= (p.Gly924=) c.2493A= (p.Gly831=) c.813A= (p.Gly271=) c.807A= (p.Gly269=) n.3737A= n.3723A= | |
15 | g.48756477C>A | CA392343463 | CEP152 | c.2771G>T (p.Gly924Val) c.2492G>T (p.Gly831Val) c.812G>T (p.Gly271Val) c.806G>T (p.Gly269Val) n.3736G>T n.3722G>T | |
15 | g.48756477C>G | CA392343465 | CEP152 | c.2771G>C (p.Gly924Ala) c.2492G>C (p.Gly831Ala) c.812G>C (p.Gly271Ala) c.806G>C (p.Gly269Ala) n.3736G>C n.3722G>C | |
15 | g.48756477C>T | CA392343464 | CEP152 | c.2771G>A (p.Gly924Glu) c.2492G>A (p.Gly831Glu) c.812G>A (p.Gly271Glu) c.806G>A (p.Gly269Glu) n.3736G>A n.3722G>A | |
15 | g.48756478C>A | CA392343466 | CEP152 | c.2770G>T (p.Gly924Ter) c.2491G>T (p.Gly831Ter) c.811G>T (p.Gly271Ter) c.805G>T (p.Gly269Ter) n.3735G>T n.3721G>T | |
15 | g.48756478C>G | CA392343467 | CEP152 | c.2770G>C (p.Gly924Arg) c.2491G>C (p.Gly831Arg) c.811G>C (p.Gly271Arg) c.805G>C (p.Gly269Arg) n.3735G>C n.3721G>C | |
15 | g.48756478C>T | CA392343468 | CEP152 | c.2770G>A (p.Gly924Arg) c.2491G>A (p.Gly831Arg) c.811G>A (p.Gly271Arg) c.805G>A (p.Gly269Arg) n.3735G>A n.3721G>A | gnomAD v4 |
15 | g.48756479A>C | CA490311425 | CEP152 | c.2769T>G (p.Pro923=) c.2490T>G (p.Pro830=) c.810T>G (p.Pro270=) c.804T>G (p.Pro268=) n.3734T>G n.3720T>G | |
15 | g.48756479A>G | CA490311426 | CEP152 | c.2769T>C (p.Pro923=) c.2490T>C (p.Pro830=) c.810T>C (p.Pro270=) c.804T>C (p.Pro268=) n.3734T>C n.3720T>C | |
15 | g.48756479A>T | CA490311427 | CEP152 | c.2769T>A (p.Pro923=) c.2490T>A (p.Pro830=) c.810T>A (p.Pro270=) c.804T>A (p.Pro268=) n.3734T>A n.3720T>A | |
15 | g.48756480G>A | CA7548477 | CEP152 | c.2768C>T (p.Pro923Leu) c.2489C>T (p.Pro830Leu) c.809C>T (p.Pro270Leu) c.803C>T (p.Pro268Leu) n.3733C>T n.3719C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756480G>C | CA392343469 | CEP152 | c.2768C>G (p.Pro923Arg) c.2489C>G (p.Pro830Arg) c.809C>G (p.Pro270Arg) c.803C>G (p.Pro268Arg) n.3733C>G n.3719C>G | gnomAD v4 |
15 | g.48756480G= | CA2175629344 | CEP152 | c.2768C= (p.Pro923=) c.2489C= (p.Pro830=) c.809C= (p.Pro270=) c.803C= (p.Pro268=) n.3733C= n.3719C= | |
15 | g.48756480G>T | CA392343470 | CEP152 | c.2768C>A (p.Pro923His) c.2489C>A (p.Pro830His) c.809C>A (p.Pro270His) c.803C>A (p.Pro268His) n.3733C>A n.3719C>A | |
15 | g.48756481G>A | CA392343471 | CEP152 | c.2767C>T (p.Pro923Ser) c.2488C>T (p.Pro830Ser) c.808C>T (p.Pro270Ser) c.802C>T (p.Pro268Ser) n.3732C>T n.3718C>T | dbSNP gnomAD v4 |
15 | g.48756481G>C | CA392343472 | CEP152 | c.2767C>G (p.Pro923Ala) c.2488C>G (p.Pro830Ala) c.808C>G (p.Pro270Ala) c.802C>G (p.Pro268Ala) n.3732C>G n.3718C>G | |
15 | g.48756481G= | CA2175629348 | CEP152 | c.2767C= (p.Pro923=) c.2488C= (p.Pro830=) c.808C= (p.Pro270=) c.802C= (p.Pro268=) n.3732C= n.3718C= | |
15 | g.48756481G>T | CA392343473 | CEP152 | c.2767C>A (p.Pro923Thr) c.2488C>A (p.Pro830Thr) c.808C>A (p.Pro270Thr) c.802C>A (p.Pro268Thr) n.3732C>A n.3718C>A | |
15 | g.48756482A>C | CA490311429 | CEP152 | c.2766T>G (p.Leu922=) c.2487T>G (p.Leu829=) c.807T>G (p.Leu269=) c.801T>G (p.Leu267=) n.3731T>G n.3717T>G | |
15 | g.48756482A>G | CA490311430 | CEP152 | c.2766T>C (p.Leu922=) c.2487T>C (p.Leu829=) c.807T>C (p.Leu269=) c.801T>C (p.Leu267=) n.3731T>C n.3717T>C | |
15 | g.48756482A>T | CA490311431 | CEP152 | c.2766T>A (p.Leu922=) c.2487T>A (p.Leu829=) c.807T>A (p.Leu269=) c.801T>A (p.Leu267=) n.3731T>A n.3717T>A | |
15 | g.48756483del | CA2556793499 | CEP152 | c.2766del (p.Pro923LeufsTer18) c.2487del (p.Pro830LeufsTer18) c.807del (p.Pro270LeufsTer18) c.801del (p.Pro268LeufsTer18) n.3731del n.3717del | |
15 | g.48756483A= | CA2175629351 | CEP152 | c.2765T= (p.Leu922=) c.2486T= (p.Leu829=) c.806T= (p.Leu269=) c.800T= (p.Leu267=) n.3730T= n.3716T= | |
15 | g.48756483A>C | CA392343474 | CEP152 | c.2765T>G (p.Leu922Arg) c.2486T>G (p.Leu829Arg) c.806T>G (p.Leu269Arg) c.800T>G (p.Leu267Arg) n.3730T>G n.3716T>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756483A>G | CA392343475 | CEP152 | c.2765T>C (p.Leu922Pro) c.2486T>C (p.Leu829Pro) c.806T>C (p.Leu269Pro) c.800T>C (p.Leu267Pro) n.3730T>C n.3716T>C | |
15 | g.48756483A>T | CA392343476 | CEP152 | c.2765T>A (p.Leu922His) c.2486T>A (p.Leu829His) c.806T>A (p.Leu269His) c.800T>A (p.Leu267His) n.3730T>A n.3716T>A | |
15 | g.48756484G>A | CA392343478 | CEP152 | c.2764C>T (p.Leu922Phe) c.2485C>T (p.Leu829Phe) c.805C>T (p.Leu269Phe) c.799C>T (p.Leu267Phe) n.3729C>T n.3715C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756484G>C | CA392343477 | CEP152 | c.2764C>G (p.Leu922Val) c.2485C>G (p.Leu829Val) c.805C>G (p.Leu269Val) c.799C>G (p.Leu267Val) n.3729C>G n.3715C>G | |
15 | g.48756484G= | CA2175629356 | CEP152 | c.2764C= (p.Leu922=) c.2485C= (p.Leu829=) c.805C= (p.Leu269=) c.799C= (p.Leu267=) n.3729C= n.3715C= | |
15 | g.48756484G>T | CA7548478 | CEP152 | c.2764C>A (p.Leu922Ile) c.2485C>A (p.Leu829Ile) c.805C>A (p.Leu269Ile) c.799C>A (p.Leu267Ile) n.3729C>A n.3715C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756485T>A | CA490311433 | CEP152 | c.2763A>T (p.Ile921=) c.2484A>T (p.Ile828=) c.804A>T (p.Ile268=) c.798A>T (p.Ile266=) n.3728A>T n.3714A>T | |
15 | g.48756485T>C | CA392343479 | CEP152 | c.2763A>G (p.Ile921Met) c.2484A>G (p.Ile828Met) c.804A>G (p.Ile268Met) c.798A>G (p.Ile266Met) n.3728A>G n.3714A>G | gnomAD v4 COSMIC COSMIC |
15 | g.48756485T>G | CA490311434 | CEP152 | c.2763A>C (p.Ile921=) c.2484A>C (p.Ile828=) c.804A>C (p.Ile268=) c.798A>C (p.Ile266=) n.3728A>C n.3714A>C | |
15 | g.48756485_48756486insG | CA2532109999 | CEP152 | c.2762_2763insC (p.Leu922ThrfsTer18) c.2483_2484insC (p.Leu829ThrfsTer18) c.803_804insC (p.Leu269ThrfsTer18) c.797_798insC (p.Leu267ThrfsTer18) n.3727_3728insC n.3713_3714insC | |
15 | g.48756486A= | CA2175629359 | CEP152 | c.2762T= (p.Ile921=) c.2483T= (p.Ile828=) c.803T= (p.Ile268=) c.797T= (p.Ile266=) n.3727T= n.3713T= | |
15 | g.48756486A>C | CA392343480 | CEP152 | c.2762T>G (p.Ile921Arg) c.2483T>G (p.Ile828Arg) c.803T>G (p.Ile268Arg) c.797T>G (p.Ile266Arg) n.3727T>G n.3713T>G | gnomAD v4 |
15 | g.48756486A>G | CA392343481 | CEP152 | c.2762T>C (p.Ile921Thr) c.2483T>C (p.Ile828Thr) c.803T>C (p.Ile268Thr) c.797T>C (p.Ile266Thr) n.3727T>C n.3713T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756486A>T | CA392343482 | CEP152 | c.2762T>A (p.Ile921Lys) c.2483T>A (p.Ile828Lys) c.803T>A (p.Ile268Lys) c.797T>A (p.Ile266Lys) n.3727T>A n.3713T>A | |
15 | g.48756487T>A | CA392343483 | CEP152 | c.2761A>T (p.Ile921Leu) c.2482A>T (p.Ile828Leu) c.802A>T (p.Ile268Leu) c.796A>T (p.Ile266Leu) n.3726A>T n.3712A>T | |
15 | g.48756487T>C | CA392343484 | CEP152 | c.2761A>G (p.Ile921Val) c.2482A>G (p.Ile828Val) c.802A>G (p.Ile268Val) c.796A>G (p.Ile266Val) n.3726A>G n.3712A>G | |
15 | g.48756487T>G | CA392343485 | CEP152 | c.2761A>C (p.Ile921Leu) c.2482A>C (p.Ile828Leu) c.802A>C (p.Ile268Leu) c.796A>C (p.Ile266Leu) n.3726A>C n.3712A>C | |
15 | g.48756488A= | CA2175629362 | CEP152 | c.2760T= (p.Asn920=) c.2481T= (p.Asn827=) c.801T= (p.Asn267=) c.795T= (p.Asn265=) n.3725T= n.3711T= | |
15 | g.48756488A>C | CA392343486 | CEP152 | c.2760T>G (p.Asn920Lys) c.2481T>G (p.Asn827Lys) c.801T>G (p.Asn267Lys) c.795T>G (p.Asn265Lys) n.3725T>G n.3711T>G | |
15 | g.48756488A>G | CA490311435 | CEP152 | c.2760T>C (p.Asn920=) c.2481T>C (p.Asn827=) c.801T>C (p.Asn267=) c.795T>C (p.Asn265=) n.3725T>C n.3711T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756488A>T | CA392343487 | CEP152 | c.2760T>A (p.Asn920Lys) c.2481T>A (p.Asn827Lys) c.801T>A (p.Asn267Lys) c.795T>A (p.Asn265Lys) n.3725T>A n.3711T>A | |
15 | g.48756489T>A | CA392343488 | CEP152 | c.2759A>T (p.Asn920Ile) c.2480A>T (p.Asn827Ile) c.800A>T (p.Asn267Ile) c.794A>T (p.Asn265Ile) n.3724A>T n.3710A>T | COSMIC COSMIC |
15 | g.48756489T>C | CA392343489 | CEP152 | c.2759A>G (p.Asn920Ser) c.2480A>G (p.Asn827Ser) c.800A>G (p.Asn267Ser) c.794A>G (p.Asn265Ser) n.3724A>G n.3710A>G | gnomAD v4 |
15 | g.48756489T>G | CA392343490 | CEP152 | c.2759A>C (p.Asn920Thr) c.2480A>C (p.Asn827Thr) c.800A>C (p.Asn267Thr) c.794A>C (p.Asn265Thr) n.3724A>C n.3710A>C | |
15 | g.48756493dup | CA2628343555 | CEP152 | c.2759dup (p.Asn920LysfsTer20) c.2480dup (p.Asn827LysfsTer20) c.800dup (p.Asn267LysfsTer20) c.794dup (p.Asn265LysfsTer20) n.3724dup n.3710dup | gnomAD v4 |
15 | g.48756490T>A | CA392343492 | CEP152 | c.2758A>T (p.Asn920Tyr) c.2479A>T (p.Asn827Tyr) c.799A>T (p.Asn267Tyr) c.793A>T (p.Asn265Tyr) n.3723A>T n.3709A>T | |
15 | g.48756490T>C | CA392343493 | CEP152 | c.2758A>G (p.Asn920Asp) c.2479A>G (p.Asn827Asp) c.799A>G (p.Asn267Asp) c.793A>G (p.Asn265Asp) n.3723A>G n.3709A>G | |
15 | g.48756490T>G | CA392343491 | CEP152 | c.2758A>C (p.Asn920His) c.2479A>C (p.Asn827His) c.799A>C (p.Asn267His) c.793A>C (p.Asn265His) n.3723A>C n.3709A>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756490T= | CA2175629366 | CEP152 | c.2758A= (p.Asn920=) c.2479A= (p.Asn827=) c.799A= (p.Asn267=) c.793A= (p.Asn265=) n.3723A= n.3709A= | |
15 | g.48756491T>A | CA392343495 | CEP152 | c.2757A>T (p.Lys919Asn) c.2478A>T (p.Lys826Asn) c.798A>T (p.Lys266Asn) c.792A>T (p.Lys264Asn) n.3722A>T n.3708A>T | |
15 | g.48756491T>C | CA490036620 | CEP152 | c.2757A>G (p.Lys919=) c.2478A>G (p.Lys826=) c.798A>G (p.Lys266=) c.792A>G (p.Lys264=) n.3722A>G n.3708A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756491T>G | CA392343494 | CEP152 | c.2757A>C (p.Lys919Asn) c.2478A>C (p.Lys826Asn) c.798A>C (p.Lys266Asn) c.792A>C (p.Lys264Asn) n.3722A>C n.3708A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756491T= | CA2175629371 | CEP152 | c.2757A= (p.Lys919=) c.2478A= (p.Lys826=) c.798A= (p.Lys266=) c.792A= (p.Lys264=) n.3722A= n.3708A= | |
15 | g.48756492T>A | CA392343496 | CEP152 | c.2756A>T (p.Lys919Ile) c.2477A>T (p.Lys826Ile) c.797A>T (p.Lys266Ile) c.791A>T (p.Lys264Ile) n.3721A>T n.3707A>T | |
15 | g.48756492T>C | CA392343497 | CEP152 | c.2756A>G (p.Lys919Arg) c.2477A>G (p.Lys826Arg) c.797A>G (p.Lys266Arg) c.791A>G (p.Lys264Arg) n.3721A>G n.3707A>G | |
15 | g.48756492T>G | CA392343498 | CEP152 | c.2756A>C (p.Lys919Thr) c.2477A>C (p.Lys826Thr) c.797A>C (p.Lys266Thr) c.791A>C (p.Lys264Thr) n.3721A>C n.3707A>C | |
15 | g.48756493T>A | CA392343499 | CEP152 | c.2755A>T (p.Lys919Ter) c.2476A>T (p.Lys826Ter) c.796A>T (p.Lys266Ter) c.790A>T (p.Lys264Ter) n.3720A>T n.3706A>T | |
15 | g.48756493T>C | CA392343500 | CEP152 | c.2755A>G (p.Lys919Glu) c.2476A>G (p.Lys826Glu) c.796A>G (p.Lys266Glu) c.790A>G (p.Lys264Glu) n.3720A>G n.3706A>G | COSMIC COSMIC |
15 | g.48756493T>G | CA392343501 | CEP152 | c.2755A>C (p.Lys919Gln) c.2476A>C (p.Lys826Gln) c.796A>C (p.Lys266Gln) c.790A>C (p.Lys264Gln) n.3720A>C n.3706A>C | |
15 | g.48756494C>A | CA392343502 | CEP152 | c.2754G>T (p.Arg918Ser) c.2475G>T (p.Arg825Ser) c.795G>T (p.Arg265Ser) c.789G>T (p.Arg263Ser) n.3719G>T n.3705G>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756494C= | CA2175629374 | CEP152 | c.2754G= (p.Arg918=) c.2475G= (p.Arg825=) c.795G= (p.Arg265=) c.789G= (p.Arg263=) n.3719G= n.3705G= | |
15 | g.48756494C>G | CA392343503 | CEP152 | c.2754G>C (p.Arg918Ser) c.2475G>C (p.Arg825Ser) c.795G>C (p.Arg265Ser) c.789G>C (p.Arg263Ser) n.3719G>C n.3705G>C | |
15 | g.48756494C>T | CA490036627 | CEP152 | c.2754G>A (p.Arg918=) c.2475G>A (p.Arg825=) c.795G>A (p.Arg265=) c.789G>A (p.Arg263=) n.3719G>A n.3705G>A | |
15 | g.48756495C>A | CA392343504 | CEP152 | c.2753G>T (p.Arg918Met) c.2474G>T (p.Arg825Met) c.794G>T (p.Arg265Met) c.788G>T (p.Arg263Met) n.3718G>T n.3704G>T | |
15 | g.48756495C>G | CA392343505 | CEP152 | c.2753G>C (p.Arg918Thr) c.2474G>C (p.Arg825Thr) c.794G>C (p.Arg265Thr) c.788G>C (p.Arg263Thr) n.3718G>C n.3704G>C | |
15 | g.48756495C>T | CA392343506 | CEP152 | c.2753G>A (p.Arg918Lys) c.2474G>A (p.Arg825Lys) c.794G>A (p.Arg265Lys) c.788G>A (p.Arg263Lys) n.3718G>A n.3704G>A | gnomAD v3 gnomAD v4 |
15 | g.48756496T>A | CA392343507 | CEP152 | c.2752A>T (p.Arg918Trp) c.2473A>T (p.Arg825Trp) c.793A>T (p.Arg265Trp) c.787A>T (p.Arg263Trp) n.3717A>T n.3703A>T | |
15 | g.48756496T>C | CA392343508 | CEP152 | c.2752A>G (p.Arg918Gly) c.2473A>G (p.Arg825Gly) c.793A>G (p.Arg265Gly) c.787A>G (p.Arg263Gly) n.3717A>G n.3703A>G | gnomAD v4 |
15 | g.48756496T>G | CA490036631 | CEP152 | c.2752A>C (p.Arg918=) c.2473A>C (p.Arg825=) c.793A>C (p.Arg265=) c.787A>C (p.Arg263=) n.3717A>C n.3703A>C | |
15 | g.48756497C>A | CA392343510 | CEP152 | c.2751G>T (p.Met917Ile) c.2472G>T (p.Met824Ile) c.792G>T (p.Met264Ile) c.786G>T (p.Met262Ile) n.3716G>T n.3702G>T | |
15 | g.48756497C= | CA2175629379 | CEP152 | c.2751G= (p.Met917=) c.2472G= (p.Met824=) c.792G= (p.Met264=) c.786G= (p.Met262=) n.3716G= n.3702G= | |
15 | g.48756497C>G | CA392343509 | CEP152 | c.2751G>C (p.Met917Ile) c.2472G>C (p.Met824Ile) c.792G>C (p.Met264Ile) c.786G>C (p.Met262Ile) n.3716G>C n.3702G>C | |
15 | g.48756497C>T | CA7548479 | CEP152 | c.2751G>A (p.Met917Ile) c.2472G>A (p.Met824Ile) c.792G>A (p.Met264Ile) c.786G>A (p.Met262Ile) n.3716G>A n.3702G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |