Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.136260525_136261952dup | CA916084092 | PCCB | c.419_430dup c.170_181dup c.286_297dup c.350_361dup n.381_392dup c.506_517dup c.512_523dup c.479_490dup n.376_387dup n.168+9967_168+11394dup n.333_344dup c.94-1439_94-12dup (n.94-1439_94-12dup) c.373-1427_373dup c.372+3902_372+5329dup (n.372+3902_372+5329dup) | |
3 | g.136261952A= | CA1404287912 | PCCB | c.430A= (p.Ile144=) c.181A= (p.Ile61=) c.297A= c.361A= (p.Ile121=) n.392A= c.517A= (p.Ile173=) c.523A= (p.Ile175=) c.490A= (p.Ile164=) n.387A= n.168+11394A= n.344A= c.94-12A= (n.94-12A=) c.373A= (p.Ile125=) c.372+5329A= (n.372+5329A=) | |
3 | g.136261952A>C | CA354739499 | PCCB | c.430A>C (p.Ile144Leu) c.181A>C (p.Ile61Leu) c.297A>C c.361A>C (p.Ile121Leu) n.392A>C c.517A>C (p.Ile173Leu) c.523A>C (p.Ile175Leu) c.490A>C (p.Ile164Leu) n.387A>C n.168+11394A>C n.344A>C c.94-12A>C (n.94-12A>C) c.373A>C (p.Ile125Leu) c.372+5329A>C (n.372+5329A>C) | |
3 | g.136261952A>G | CA354739501 | PCCB | c.430A>G (p.Ile144Val) c.181A>G (p.Ile61Val) c.297A>G c.361A>G (p.Ile121Val) n.392A>G c.517A>G (p.Ile173Val) c.523A>G (p.Ile175Val) c.490A>G (p.Ile164Val) n.387A>G n.168+11394A>G n.344A>G c.94-12A>G (n.94-12A>G) c.373A>G (p.Ile125Val) c.372+5329A>G (n.372+5329A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136261952A>T | CA354739502 | PCCB | c.430A>T (p.Ile144Phe) c.181A>T (p.Ile61Phe) c.297A>T c.361A>T (p.Ile121Phe) n.392A>T c.517A>T (p.Ile173Phe) c.523A>T (p.Ile175Phe) c.490A>T (p.Ile164Phe) n.387A>T n.168+11394A>T n.344A>T c.94-12A>T (n.94-12A>T) c.373A>T (p.Ile125Phe) c.372+5329A>T (n.372+5329A>T) | |
3 | g.136261953T>A | CA354739504 | PCCB | c.431T>A (p.Ile144Asn) c.182T>A (p.Ile61Asn) c.298T>A c.362T>A (p.Ile121Asn) n.393T>A c.518T>A (p.Ile173Asn) c.524T>A (p.Ile175Asn) c.491T>A (p.Ile164Asn) n.388T>A n.168+11395T>A n.345T>A c.94-11T>A (n.94-11T>A) c.374T>A (p.Ile125Asn) c.372+5330T>A (n.372+5330T>A) | |
3 | g.136261953T>C | CA354739506 | PCCB | c.431T>C (p.Ile144Thr) c.182T>C (p.Ile61Thr) c.298T>C c.362T>C (p.Ile121Thr) n.393T>C c.518T>C (p.Ile173Thr) c.524T>C (p.Ile175Thr) c.491T>C (p.Ile164Thr) n.388T>C n.168+11395T>C n.345T>C c.94-11T>C (n.94-11T>C) c.374T>C (p.Ile125Thr) c.372+5330T>C (n.372+5330T>C) | |
3 | g.136261953T>G | CA354739507 | PCCB | c.431T>G (p.Ile144Ser) c.182T>G (p.Ile61Ser) c.298T>G c.362T>G (p.Ile121Ser) n.393T>G c.518T>G (p.Ile173Ser) c.524T>G (p.Ile175Ser) c.491T>G (p.Ile164Ser) n.388T>G n.168+11395T>G n.345T>G c.94-11T>G (n.94-11T>G) c.374T>G (p.Ile125Ser) c.372+5330T>G (n.372+5330T>G) | |
3 | g.136261954C>A | CA435957416 | PCCB | c.432C>A (p.Ile144=) c.183C>A (p.Ile61=) c.299C>A c.363C>A (p.Ile121=) n.394C>A c.519C>A (p.Ile173=) c.525C>A (p.Ile175=) c.492C>A (p.Ile164=) n.389C>A n.168+11396C>A n.346C>A c.94-10C>A (n.94-10C>A) c.375C>A (p.Ile125=) c.372+5331C>A (n.372+5331C>A) | gnomAD v4 |
3 | g.136261954C>G | CA354739509 | PCCB | c.432C>G (p.Ile144Met) c.183C>G (p.Ile61Met) c.299C>G c.363C>G (p.Ile121Met) n.394C>G c.519C>G (p.Ile173Met) c.525C>G (p.Ile175Met) c.492C>G (p.Ile164Met) n.389C>G n.168+11396C>G n.346C>G c.94-10C>G (n.94-10C>G) c.375C>G (p.Ile125Met) c.372+5331C>G (n.372+5331C>G) | |
3 | g.136261954C>T | CA435957417 | PCCB | c.432C>T (p.Ile144=) c.183C>T (p.Ile61=) c.299C>T c.363C>T (p.Ile121=) n.394C>T c.519C>T (p.Ile173=) c.525C>T (p.Ile175=) c.492C>T (p.Ile164=) n.389C>T n.168+11396C>T n.346C>T c.94-10C>T (n.94-10C>T) c.375C>T (p.Ile125=) c.372+5331C>T (n.372+5331C>T) | gnomAD v4 |
3 | g.136261955A= | CA1404287913 | PCCB | c.433A= (p.Met145=) c.184A= (p.Met62=) c.300A= c.364A= (p.Met122=) n.395A= c.520A= (p.Met174=) c.526A= (p.Met176=) c.493A= (p.Met165=) n.390A= n.168+11397A= n.347A= c.94-9A= (n.94-9A=) c.376A= (p.Met126=) c.372+5332A= (n.372+5332A=) | |
3 | g.136261955A>C | CA354739511 | PCCB | c.433A>C (p.Met145Leu) c.184A>C (p.Met62Leu) c.300A>C c.364A>C (p.Met122Leu) n.395A>C c.520A>C (p.Met174Leu) c.526A>C (p.Met176Leu) c.493A>C (p.Met165Leu) n.390A>C n.168+11397A>C n.347A>C c.94-9A>C (n.94-9A>C) c.376A>C (p.Met126Leu) c.372+5332A>C (n.372+5332A>C) | |
3 | g.136261955A>G | CA84266986 | PCCB | c.433A>G (p.Met145Val) c.184A>G (p.Met62Val) c.300A>G c.364A>G (p.Met122Val) n.395A>G c.520A>G (p.Met174Val) c.526A>G (p.Met176Val) c.493A>G (p.Met165Val) n.390A>G n.168+11397A>G n.347A>G c.94-9A>G (n.94-9A>G) c.376A>G (p.Met126Val) c.372+5332A>G (n.372+5332A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136261955A>T | CA354739510 | PCCB | c.433A>T (p.Met145Leu) c.184A>T (p.Met62Leu) c.300A>T c.364A>T (p.Met122Leu) n.395A>T c.520A>T (p.Met174Leu) c.526A>T (p.Met176Leu) c.493A>T (p.Met165Leu) n.390A>T n.168+11397A>T n.347A>T c.94-9A>T (n.94-9A>T) c.376A>T (p.Met126Leu) c.372+5332A>T (n.372+5332A>T) | |
3 | g.136261955_136261956insGCTGTTA | CA2573136565 | PCCB | c.433_434insGCTGTTA (p.Met145SerfsTer18) c.184_185insGCTGTTA (p.Met62SerfsTer18) c.300_301insGCTGTTA c.364_365insGCTGTTA (p.Met122SerfsTer18) n.395_396insGCTGTTA c.520_521insGCTGTTA (p.Met174SerfsTer18) c.526_527insGCTGTTA (p.Met176SerfsTer18) c.493_494insGCTGTTA (p.Met165SerfsTer18) n.390_391insGCTGTTA n.168+11397_168+11398insGCTGTTA n.347_348insGCTGTTA c.94-9_94-8insGCTGTTA (n.94-9_94-8insGCTGTTA) c.376_377insGCTGTTA (p.Met126SerfsTer18) c.372+5332_372+5333insGCTGTTA (n.372+5332_372+5333insGCTGTTA) | ClinVar dbSNP |
3 | g.136261956T>A | CA354739512 | PCCB | c.434T>A (p.Met145Lys) c.185T>A (p.Met62Lys) c.301T>A c.365T>A (p.Met122Lys) n.396T>A c.521T>A (p.Met174Lys) c.527T>A (p.Met176Lys) c.494T>A (p.Met165Lys) n.391T>A n.168+11398T>A n.348T>A c.94-8T>A (n.94-8T>A) c.377T>A (p.Met126Lys) c.372+5333T>A (n.372+5333T>A) | gnomAD v4 |
3 | g.136261956T>C | CA2631753 | PCCB | c.434T>C (p.Met145Thr) c.185T>C (p.Met62Thr) c.301T>C c.365T>C (p.Met122Thr) n.396T>C c.521T>C (p.Met174Thr) c.527T>C (p.Met176Thr) c.494T>C (p.Met165Thr) n.391T>C n.168+11398T>C n.348T>C c.94-8T>C (n.94-8T>C) c.377T>C (p.Met126Thr) c.372+5333T>C (n.372+5333T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136261956T>G | CA354739513 | PCCB | c.434T>G (p.Met145Arg) c.185T>G (p.Met62Arg) c.301T>G c.365T>G (p.Met122Arg) n.396T>G c.521T>G (p.Met174Arg) c.527T>G (p.Met176Arg) c.494T>G (p.Met165Arg) n.391T>G n.168+11398T>G n.348T>G c.94-8T>G (n.94-8T>G) c.377T>G (p.Met126Arg) c.372+5333T>G (n.372+5333T>G) | |
3 | g.136261956T= | CA1404287914 | PCCB | c.434T= (p.Met145=) c.185T= (p.Met62=) c.301T= c.365T= (p.Met122=) n.396T= c.521T= (p.Met174=) c.527T= (p.Met176=) c.494T= (p.Met165=) n.391T= n.168+11398T= n.348T= c.94-8T= (n.94-8T=) c.377T= (p.Met126=) c.372+5333T= (n.372+5333T=) | |
3 | g.136261957G>A | CA354739514 | PCCB | c.435G>A (p.Met145Ile) c.186G>A (p.Met62Ile) c.302G>A c.366G>A (p.Met122Ile) n.397G>A c.522G>A (p.Met174Ile) c.528G>A (p.Met176Ile) c.495G>A (p.Met165Ile) n.392G>A n.168+11399G>A n.349G>A c.94-7G>A (n.94-7G>A) c.378G>A (p.Met126Ile) c.372+5334G>A (n.372+5334G>A) | gnomAD v4 |
3 | g.136261957G>C | CA354739515 | PCCB | c.435G>C (p.Met145Ile) c.186G>C (p.Met62Ile) c.302G>C c.366G>C (p.Met122Ile) n.397G>C c.522G>C (p.Met174Ile) c.528G>C (p.Met176Ile) c.495G>C (p.Met165Ile) n.392G>C n.168+11399G>C n.349G>C c.94-7G>C (n.94-7G>C) c.378G>C (p.Met126Ile) c.372+5334G>C (n.372+5334G>C) | gnomAD v4 |
3 | g.136261957G>T | CA354739517 | PCCB | c.435G>T (p.Met145Ile) c.186G>T (p.Met62Ile) c.302G>T c.366G>T (p.Met122Ile) n.397G>T c.522G>T (p.Met174Ile) c.528G>T (p.Met176Ile) c.495G>T (p.Met165Ile) n.392G>T n.168+11399G>T n.349G>T c.94-7G>T (n.94-7G>T) c.378G>T (p.Met126Ile) c.372+5334G>T (n.372+5334G>T) | gnomAD v4 |
3 | g.136261958del | CA2667839510 | PCCB | c.436del (p.Asp146ThrfsTer4) c.187del (p.Asp63ThrfsTer4) c.303del c.367del (p.Asp123ThrfsTer4) n.398del c.523del (p.Asp175ThrfsTer4) c.529del (p.Asp177ThrfsTer4) c.496del (p.Asp166ThrfsTer4) n.393del n.168+11400del n.350del c.94-6del (n.94-6del) c.379del (p.Asp127ThrfsTer4) c.372+5335del (n.372+5335del) | gnomAD v4 |
3 | g.136261958G>A | CA354739518 | PCCB | c.436G>A (p.Asp146Asn) c.187G>A (p.Asp63Asn) c.303G>A c.367G>A (p.Asp123Asn) n.398G>A c.523G>A (p.Asp175Asn) c.529G>A (p.Asp177Asn) c.496G>A (p.Asp166Asn) n.393G>A n.168+11400G>A n.350G>A c.94-6G>A (n.94-6G>A) c.379G>A (p.Asp127Asn) c.372+5335G>A (n.372+5335G>A) | gnomAD v4 |
3 | g.136261958G>C | CA354739520 | PCCB | c.436G>C (p.Asp146His) c.187G>C (p.Asp63His) c.303G>C c.367G>C (p.Asp123His) n.398G>C c.523G>C (p.Asp175His) c.529G>C (p.Asp177His) c.496G>C (p.Asp166His) n.393G>C n.168+11400G>C n.350G>C c.94-6G>C (n.94-6G>C) c.379G>C (p.Asp127His) c.372+5335G>C (n.372+5335G>C) | |
3 | g.136261958G= | CA1404287915 | PCCB | c.436G= (p.Asp146=) c.187G= (p.Asp63=) c.303G= c.367G= (p.Asp123=) n.398G= c.523G= (p.Asp175=) c.529G= (p.Asp177=) c.496G= (p.Asp166=) n.393G= n.168+11400G= n.350G= c.94-6G= (n.94-6G=) c.379G= (p.Asp127=) c.372+5335G= (n.372+5335G=) | |
3 | g.136261958G>T | CA84266987 | PCCB | c.436G>T (p.Asp146Tyr) c.187G>T (p.Asp63Tyr) c.303G>T c.367G>T (p.Asp123Tyr) n.398G>T c.523G>T (p.Asp175Tyr) c.529G>T (p.Asp177Tyr) c.496G>T (p.Asp166Tyr) n.393G>T n.168+11400G>T n.350G>T c.94-6G>T (n.94-6G>T) c.379G>T (p.Asp127Tyr) c.372+5335G>T (n.372+5335G>T) | dbSNP gnomAD v4 |
3 | g.136261959A>C | CA354739522 | PCCB | c.437A>C (p.Asp146Ala) c.188A>C (p.Asp63Ala) c.304A>C c.368A>C (p.Asp123Ala) n.399A>C c.524A>C (p.Asp175Ala) c.530A>C (p.Asp177Ala) c.497A>C (p.Asp166Ala) n.394A>C n.168+11401A>C n.351A>C c.94-5A>C (n.94-5A>C) c.380A>C (p.Asp127Ala) c.372+5336A>C (n.372+5336A>C) | |
3 | g.136261959A>G | CA354739524 | PCCB | c.437A>G (p.Asp146Gly) c.188A>G (p.Asp63Gly) c.304A>G c.368A>G (p.Asp123Gly) n.399A>G c.524A>G (p.Asp175Gly) c.530A>G (p.Asp177Gly) c.497A>G (p.Asp166Gly) n.394A>G n.168+11401A>G n.351A>G c.94-5A>G (n.94-5A>G) c.380A>G (p.Asp127Gly) c.372+5336A>G (n.372+5336A>G) | gnomAD v4 |
3 | g.136261959A>T | CA354739525 | PCCB | c.437A>T (p.Asp146Val) c.188A>T (p.Asp63Val) c.304A>T c.368A>T (p.Asp123Val) n.399A>T c.524A>T (p.Asp175Val) c.530A>T (p.Asp177Val) c.497A>T (p.Asp166Val) n.394A>T n.168+11401A>T n.351A>T c.94-5A>T (n.94-5A>T) c.380A>T (p.Asp127Val) c.372+5336A>T (n.372+5336A>T) | gnomAD v4 |
3 | g.136261960C>A | CA354739527 | PCCB | c.438C>A (p.Asp146Glu) c.189C>A (p.Asp63Glu) c.305C>A c.369C>A (p.Asp123Glu) n.400C>A c.525C>A (p.Asp175Glu) c.531C>A (p.Asp177Glu) c.498C>A (p.Asp166Glu) n.395C>A n.168+11402C>A n.352C>A c.94-4C>A (n.94-4C>A) c.381C>A (p.Asp127Glu) c.372+5337C>A (n.372+5337C>A) | gnomAD v4 |
3 | g.136261960C>G | CA354739528 | PCCB | c.438C>G (p.Asp146Glu) c.189C>G (p.Asp63Glu) c.305C>G c.369C>G (p.Asp123Glu) n.400C>G c.525C>G (p.Asp175Glu) c.531C>G (p.Asp177Glu) c.498C>G (p.Asp166Glu) n.395C>G n.168+11402C>G n.352C>G c.94-4C>G (n.94-4C>G) c.381C>G (p.Asp127Glu) c.372+5337C>G (n.372+5337C>G) | |
3 | g.136261960C>T | CA435957418 | PCCB | c.438C>T (p.Asp146=) c.189C>T (p.Asp63=) c.305C>T c.369C>T (p.Asp123=) n.400C>T c.525C>T (p.Asp175=) c.531C>T (p.Asp177=) c.498C>T (p.Asp166=) n.395C>T n.168+11402C>T n.352C>T c.94-4C>T (n.94-4C>T) c.381C>T (p.Asp127=) c.372+5337C>T (n.372+5337C>T) | ClinVar gnomAD v4 |
3 | g.136261961C>A | CA354739531 | PCCB | c.439C>A (p.Gln147Lys) c.190C>A (p.Gln64Lys) c.306C>A c.370C>A (p.Gln124Lys) n.401C>A c.526C>A (p.Gln176Lys) c.532C>A (p.Gln178Lys) c.499C>A (p.Gln167Lys) n.396C>A n.168+11403C>A n.353C>A c.94-3C>A (n.94-3C>A) c.382C>A (p.Gln128Lys) c.372+5338C>A (n.372+5338C>A) | gnomAD v4 |
3 | g.136261961C= | CA1404287916 | PCCB | c.439C= (p.Gln147=) c.190C= (p.Gln64=) c.306C= c.370C= (p.Gln124=) n.401C= c.526C= (p.Gln176=) c.532C= (p.Gln178=) c.499C= (p.Gln167=) n.396C= n.168+11403C= n.353C= c.94-3C= (n.94-3C=) c.382C= (p.Gln128=) c.372+5338C= (n.372+5338C=) | |
3 | g.136261961C>G | CA354739530 | PCCB | c.439C>G (p.Gln147Glu) c.190C>G (p.Gln64Glu) c.306C>G c.370C>G (p.Gln124Glu) n.401C>G c.526C>G (p.Gln176Glu) c.532C>G (p.Gln178Glu) c.499C>G (p.Gln167Glu) n.396C>G n.168+11403C>G n.353C>G c.94-3C>G (n.94-3C>G) c.382C>G (p.Gln128Glu) c.372+5338C>G (n.372+5338C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.136261961C>T | CA354739529 | PCCB | c.439C>T (p.Gln147Ter) c.190C>T (p.Gln64Ter) c.306C>T c.370C>T (p.Gln124Ter) n.401C>T c.526C>T (p.Gln176Ter) c.532C>T (p.Gln178Ter) c.499C>T (p.Gln167Ter) n.396C>T n.168+11403C>T n.353C>T c.94-3C>T (n.94-3C>T) c.382C>T (p.Gln128Ter) c.372+5338C>T (n.372+5338C>T) | ClinVar gnomAD v4 |
3 | g.136261962A>C | CA354739532 | PCCB | c.440A>C (p.Gln147Pro) c.191A>C (p.Gln64Pro) c.307A>C c.371A>C (p.Gln124Pro) n.402A>C c.527A>C (p.Gln176Pro) c.533A>C (p.Gln178Pro) c.500A>C (p.Gln167Pro) n.397A>C n.168+11404A>C n.354A>C c.94-2A>C (n.94-2A>C) c.383A>C (p.Gln128Pro) c.372+5339A>C (n.372+5339A>C) | |
3 | g.136261962A>G | CA354739534 | PCCB | c.440A>G (p.Gln147Arg) c.191A>G (p.Gln64Arg) c.307A>G c.371A>G (p.Gln124Arg) n.402A>G c.527A>G (p.Gln176Arg) c.533A>G (p.Gln178Arg) c.500A>G (p.Gln167Arg) n.397A>G n.168+11404A>G n.354A>G c.94-2A>G (n.94-2A>G) c.383A>G (p.Gln128Arg) c.372+5339A>G (n.372+5339A>G) | gnomAD v4 |
3 | g.136261962A>T | CA354739536 | PCCB | c.440A>T (p.Gln147Leu) c.191A>T (p.Gln64Leu) c.307A>T c.371A>T (p.Gln124Leu) n.402A>T c.527A>T (p.Gln176Leu) c.533A>T (p.Gln178Leu) c.500A>T (p.Gln167Leu) n.397A>T n.168+11404A>T n.354A>T c.94-2A>T (n.94-2A>T) c.383A>T (p.Gln128Leu) c.372+5339A>T (n.372+5339A>T) | gnomAD v4 |
3 | g.136261963G>A | CA354739537 | PCCB | c.441G>A (p.Gln147=) c.192G>A (p.Gln64=) c.308G>A c.372G>A (p.Gln124=) n.403G>A c.528G>A (p.Gln176=) c.534G>A (p.Gln178=) c.501G>A (p.Gln167=) n.398G>A n.168+11405G>A n.355G>A c.94-1G>A (n.94-1G>A) c.384G>A (p.Gln128=) c.372+5340G>A (n.372+5340G>A) | |
3 | g.136261963G>C | CA354739539 | PCCB | c.441G>C (p.Gln147His) c.192G>C (p.Gln64His) c.308G>C c.372G>C (p.Gln124His) n.403G>C c.528G>C (p.Gln176His) c.534G>C (p.Gln178His) c.501G>C (p.Gln167His) n.398G>C n.168+11405G>C n.355G>C c.94-1G>C (n.94-1G>C) c.384G>C (p.Gln128His) c.372+5340G>C (n.372+5340G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.136261963G= | CA1404287917 | PCCB | c.441G= (p.Gln147=) c.192G= (p.Gln64=) c.308G= c.372G= (p.Gln124=) n.403G= c.528G= (p.Gln176=) c.534G= (p.Gln178=) c.501G= (p.Gln167=) n.398G= n.168+11405G= n.355G= c.94-1G= (n.94-1G=) c.384G= (p.Gln128=) c.372+5340G= (n.372+5340G=) | |
3 | g.136261963G>T | CA354739540 | PCCB | c.441G>T (p.Gln147His) c.192G>T (p.Gln64His) c.308G>T c.372G>T (p.Gln124His) n.403G>T c.528G>T (p.Gln176His) c.534G>T (p.Gln178His) c.501G>T (p.Gln167His) n.398G>T n.168+11405G>T n.355G>T c.94-1G>T (n.94-1G>T) c.384G>T (p.Gln128His) c.372+5340G>T (n.372+5340G>T) | gnomAD v4 |
3 | g.136261964G>A | CA354739545 | PCCB | c.442G>A (p.Ala148Thr) c.193G>A (p.Ala65Thr) c.309G>A c.373G>A (p.Ala125Thr) n.404G>A c.529G>A (p.Ala177Thr) c.535G>A (p.Ala179Thr) c.502G>A (p.Ala168Thr) n.399G>A n.168+11406G>A n.356G>A c.94G>A (p.Ala32Thr) c.385G>A (p.Ala129Thr) c.372+5341G>A (n.372+5341G>A) | gnomAD v4 |
3 | g.136261964G>C | CA354739543 | PCCB | c.442G>C (p.Ala148Pro) c.193G>C (p.Ala65Pro) c.309G>C c.373G>C (p.Ala125Pro) n.404G>C c.529G>C (p.Ala177Pro) c.535G>C (p.Ala179Pro) c.502G>C (p.Ala168Pro) n.399G>C n.168+11406G>C n.356G>C c.94G>C (p.Ala32Pro) c.385G>C (p.Ala129Pro) c.372+5341G>C (n.372+5341G>C) | |
3 | g.136261964G= | CA1404287918 | PCCB | c.442G= (p.Ala148=) c.193G= (p.Ala65=) c.309G= c.373G= (p.Ala125=) n.404G= c.529G= (p.Ala177=) c.535G= (p.Ala179=) c.502G= (p.Ala168=) n.399G= n.168+11406G= n.356G= c.94G= (p.Ala32=) c.385G= (p.Ala129=) c.372+5341G= (n.372+5341G=) | |
3 | g.136261964G>T | CA354739541 | PCCB | c.442G>T (p.Ala148Ser) c.193G>T (p.Ala65Ser) c.309G>T c.373G>T (p.Ala125Ser) n.404G>T c.529G>T (p.Ala177Ser) c.535G>T (p.Ala179Ser) c.502G>T (p.Ala168Ser) n.399G>T n.168+11406G>T n.356G>T c.94G>T (p.Ala32Ser) c.385G>T (p.Ala129Ser) c.372+5341G>T (n.372+5341G>T) | dbSNP gnomAD v4 |
3 | g.136261965C>A | CA354739546 | PCCB | c.443C>A (p.Ala148Asp) c.194C>A (p.Ala65Asp) c.310C>A c.374C>A (p.Ala125Asp) n.405C>A c.530C>A (p.Ala177Asp) c.536C>A (p.Ala179Asp) c.503C>A (p.Ala168Asp) n.400C>A n.168+11407C>A n.357C>A c.95C>A (p.Ala32Asp) c.386C>A (p.Ala129Asp) c.372+5342C>A (n.372+5342C>A) | gnomAD v4 |
3 | g.136261965C= | CA1404287919 | PCCB | c.443C= (p.Ala148=) c.194C= (p.Ala65=) c.310C= c.374C= (p.Ala125=) n.405C= c.530C= (p.Ala177=) c.536C= (p.Ala179=) c.503C= (p.Ala168=) n.400C= n.168+11407C= n.357C= c.95C= (p.Ala32=) c.386C= (p.Ala129=) c.372+5342C= (n.372+5342C=) | |
3 | g.136261965C>G | CA354739548 | PCCB | c.443C>G (p.Ala148Gly) c.194C>G (p.Ala65Gly) c.310C>G c.374C>G (p.Ala125Gly) n.405C>G c.530C>G (p.Ala177Gly) c.536C>G (p.Ala179Gly) c.503C>G (p.Ala168Gly) n.400C>G n.168+11407C>G n.357C>G c.95C>G (p.Ala32Gly) c.386C>G (p.Ala129Gly) c.372+5342C>G (n.372+5342C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.136261965C>T | CA354739549 | PCCB | c.443C>T (p.Ala148Val) c.194C>T (p.Ala65Val) c.310C>T c.374C>T (p.Ala125Val) n.405C>T c.530C>T (p.Ala177Val) c.536C>T (p.Ala179Val) c.503C>T (p.Ala168Val) n.400C>T n.168+11407C>T n.357C>T c.95C>T (p.Ala32Val) c.386C>T (p.Ala129Val) c.372+5342C>T (n.372+5342C>T) | gnomAD v4 |
3 | g.136261966C>A | CA435957419 | PCCB | c.444C>A (p.Ala148=) c.195C>A (p.Ala65=) c.311C>A c.375C>A (p.Ala125=) n.406C>A c.531C>A (p.Ala177=) c.537C>A (p.Ala179=) c.504C>A (p.Ala168=) n.401C>A n.168+11408C>A n.358C>A c.96C>A (p.Ala32=) c.387C>A (p.Ala129=) c.372+5343C>A (n.372+5343C>A) | gnomAD v4 |
3 | g.136261966C>G | CA435957420 | PCCB | c.444C>G (p.Ala148=) c.195C>G (p.Ala65=) c.311C>G c.375C>G (p.Ala125=) n.406C>G c.531C>G (p.Ala177=) c.537C>G (p.Ala179=) c.504C>G (p.Ala168=) n.401C>G n.168+11408C>G n.358C>G c.96C>G (p.Ala32=) c.387C>G (p.Ala129=) c.372+5343C>G (n.372+5343C>G) | |
3 | g.136261966C>T | CA435957421 | PCCB | c.444C>T (p.Ala148=) c.195C>T (p.Ala65=) c.311C>T c.375C>T (p.Ala125=) n.406C>T c.531C>T (p.Ala177=) c.537C>T (p.Ala179=) c.504C>T (p.Ala168=) n.401C>T n.168+11408C>T n.358C>T c.96C>T (p.Ala32=) c.387C>T (p.Ala129=) c.372+5343C>T (n.372+5343C>T) | ClinVar gnomAD v4 |
3 | g.136261967A>C | CA354739551 | PCCB | c.445A>C (p.Ile149Leu) c.196A>C (p.Ile66Leu) c.312A>C c.376A>C (p.Ile126Leu) n.407A>C c.532A>C (p.Ile178Leu) c.538A>C (p.Ile180Leu) c.505A>C (p.Ile169Leu) n.402A>C n.168+11409A>C n.359A>C c.97A>C (p.Ile33Leu) c.388A>C (p.Ile130Leu) c.372+5344A>C (n.372+5344A>C) | |
3 | g.136261967A>G | CA354739552 | PCCB | c.445A>G (p.Ile149Val) c.196A>G (p.Ile66Val) c.312A>G c.376A>G (p.Ile126Val) n.407A>G c.532A>G (p.Ile178Val) c.538A>G (p.Ile180Val) c.505A>G (p.Ile169Val) n.402A>G n.168+11409A>G n.359A>G c.97A>G (p.Ile33Val) c.388A>G (p.Ile130Val) c.372+5344A>G (n.372+5344A>G) | |
3 | g.136261967A>T | CA354739554 | PCCB | c.445A>T (p.Ile149Leu) c.196A>T (p.Ile66Leu) c.312A>T c.376A>T (p.Ile126Leu) n.407A>T c.532A>T (p.Ile178Leu) c.538A>T (p.Ile180Leu) c.505A>T (p.Ile169Leu) n.402A>T n.168+11409A>T n.359A>T c.97A>T (p.Ile33Leu) c.388A>T (p.Ile130Leu) c.372+5344A>T (n.372+5344A>T) | gnomAD v4 |
3 | g.136261968T>A | CA354739555 | PCCB | c.446T>A (p.Ile149Lys) c.197T>A (p.Ile66Lys) c.313T>A c.377T>A (p.Ile126Lys) n.408T>A c.533T>A (p.Ile178Lys) c.539T>A (p.Ile180Lys) c.506T>A (p.Ile169Lys) n.403T>A n.168+11410T>A n.360T>A c.98T>A (p.Ile33Lys) c.389T>A (p.Ile130Lys) c.372+5345T>A (n.372+5345T>A) | |
3 | g.136261968T>C | CA354739557 | PCCB | c.446T>C (p.Ile149Thr) c.197T>C (p.Ile66Thr) c.313T>C c.377T>C (p.Ile126Thr) n.408T>C c.533T>C (p.Ile178Thr) c.539T>C (p.Ile180Thr) c.506T>C (p.Ile169Thr) n.403T>C n.168+11410T>C n.360T>C c.98T>C (p.Ile33Thr) c.389T>C (p.Ile130Thr) c.372+5345T>C (n.372+5345T>C) | gnomAD v4 |
3 | g.136261968T>G | CA354739556 | PCCB | c.446T>G (p.Ile149Arg) c.197T>G (p.Ile66Arg) c.313T>G c.377T>G (p.Ile126Arg) n.408T>G c.533T>G (p.Ile178Arg) c.539T>G (p.Ile180Arg) c.506T>G (p.Ile169Arg) n.403T>G n.168+11410T>G n.360T>G c.98T>G (p.Ile33Arg) c.389T>G (p.Ile130Arg) c.372+5345T>G (n.372+5345T>G) | |
3 | g.136261968dup | CA2580068819 | PCCB | c.446dup (p.Thr150AsnfsTer11) c.197dup (p.Thr67AsnfsTer11) c.313dup c.377dup (p.Thr127AsnfsTer11) n.408dup c.533dup (p.Thr179AsnfsTer11) c.539dup (p.Thr181AsnfsTer11) c.506dup (p.Thr170AsnfsTer11) n.403dup n.168+11410dup n.360dup c.98dup (p.Thr34AsnfsTer11) c.389dup (p.Thr131AsnfsTer11) c.372+5345dup (n.372+5345dup) | ClinVar |
3 | g.136261969A>C | CA435957422 | PCCB | c.447A>C (p.Ile149=) c.198A>C (p.Ile66=) c.314A>C c.378A>C (p.Ile126=) n.409A>C c.534A>C (p.Ile178=) c.540A>C (p.Ile180=) c.507A>C (p.Ile169=) n.404A>C n.168+11411A>C n.361A>C c.99A>C (p.Ile33=) c.390A>C (p.Ile130=) c.372+5346A>C (n.372+5346A>C) | |
3 | g.136261969A>G | CA354739559 | PCCB | c.447A>G (p.Ile149Met) c.198A>G (p.Ile66Met) c.314A>G c.378A>G (p.Ile126Met) n.409A>G c.534A>G (p.Ile178Met) c.540A>G (p.Ile180Met) c.507A>G (p.Ile169Met) n.404A>G n.168+11411A>G n.361A>G c.99A>G (p.Ile33Met) c.390A>G (p.Ile130Met) c.372+5346A>G (n.372+5346A>G) | |
3 | g.136261969A>T | CA435957423 | PCCB | c.447A>T (p.Ile149=) c.198A>T (p.Ile66=) c.314A>T c.378A>T (p.Ile126=) n.409A>T c.534A>T (p.Ile178=) c.540A>T (p.Ile180=) c.507A>T (p.Ile169=) n.404A>T n.168+11411A>T n.361A>T c.99A>T (p.Ile33=) c.390A>T (p.Ile130=) c.372+5346A>T (n.372+5346A>T) | |
3 | g.136261970del | CA2758544929 | PCCB | c.448del (p.Thr150ArgfsTer6) c.199del (p.Thr67ArgfsTer6) c.315del c.379del (p.Thr127ArgfsTer6) n.410del c.535del (p.Thr179ArgfsTer6) c.541del (p.Thr181ArgfsTer6) c.508del (p.Thr170ArgfsTer6) n.405del n.168+11412del n.362del c.100del (p.Thr34ArgfsTer6) c.391del (p.Thr131ArgfsTer6) c.372+5347del (n.372+5347del) | |
3 | g.136261970A>C | CA354739560 | PCCB | c.448A>C (p.Thr150Pro) c.199A>C (p.Thr67Pro) c.315A>C c.379A>C (p.Thr127Pro) n.410A>C c.535A>C (p.Thr179Pro) c.541A>C (p.Thr181Pro) c.508A>C (p.Thr170Pro) n.405A>C n.168+11412A>C n.362A>C c.100A>C (p.Thr34Pro) c.391A>C (p.Thr131Pro) c.372+5347A>C (n.372+5347A>C) | |
3 | g.136261970A>G | CA354739561 | PCCB | c.448A>G (p.Thr150Ala) c.199A>G (p.Thr67Ala) c.315A>G c.379A>G (p.Thr127Ala) n.410A>G c.535A>G (p.Thr179Ala) c.541A>G (p.Thr181Ala) c.508A>G (p.Thr170Ala) n.405A>G n.168+11412A>G n.362A>G c.100A>G (p.Thr34Ala) c.391A>G (p.Thr131Ala) c.372+5347A>G (n.372+5347A>G) | gnomAD v4 |
3 | g.136261970A>T | CA354739562 | PCCB | c.448A>T (p.Thr150Ser) c.199A>T (p.Thr67Ser) c.315A>T c.379A>T (p.Thr127Ser) n.410A>T c.535A>T (p.Thr179Ser) c.541A>T (p.Thr181Ser) c.508A>T (p.Thr170Ser) n.405A>T n.168+11412A>T n.362A>T c.100A>T (p.Thr34Ser) c.391A>T (p.Thr131Ser) c.372+5347A>T (n.372+5347A>T) | |
3 | g.136261971del | CA2580068820 | PCCB | c.449del (p.Thr150ArgfsTer6) c.200del (p.Thr67ArgfsTer6) c.316del c.380del (p.Thr127ArgfsTer6) n.411del c.536del (p.Thr179ArgfsTer6) c.542del (p.Thr181ArgfsTer6) c.509del (p.Thr170ArgfsTer6) n.406del n.168+11413del n.363del c.101del (p.Thr34ArgfsTer6) c.392del (p.Thr131ArgfsTer6) c.372+5348del (n.372+5348del) | ClinVar |
3 | g.136261971C>A | CA354739564 | PCCB | c.449C>A (p.Thr150Lys) c.200C>A (p.Thr67Lys) c.316C>A c.380C>A (p.Thr127Lys) n.411C>A c.536C>A (p.Thr179Lys) c.542C>A (p.Thr181Lys) c.509C>A (p.Thr170Lys) n.406C>A n.168+11413C>A n.363C>A c.101C>A (p.Thr34Lys) c.392C>A (p.Thr131Lys) c.372+5348C>A (n.372+5348C>A) | gnomAD v4 |
3 | g.136261971C= | CA1404287920 | PCCB | c.449C= (p.Thr150=) c.200C= (p.Thr67=) c.316C= c.380C= (p.Thr127=) n.411C= c.536C= (p.Thr179=) c.542C= (p.Thr181=) c.509C= (p.Thr170=) n.406C= n.168+11413C= n.363C= c.101C= (p.Thr34=) c.392C= (p.Thr131=) c.372+5348C= (n.372+5348C=) | |
3 | g.136261971C>G | CA354739565 | PCCB | c.449C>G (p.Thr150Arg) c.200C>G (p.Thr67Arg) c.316C>G c.380C>G (p.Thr127Arg) n.411C>G c.536C>G (p.Thr179Arg) c.542C>G (p.Thr181Arg) c.509C>G (p.Thr170Arg) n.406C>G n.168+11413C>G n.363C>G c.101C>G (p.Thr34Arg) c.392C>G (p.Thr131Arg) c.372+5348C>G (n.372+5348C>G) | |
3 | g.136261971C>T | CA84266988 | PCCB | c.449C>T (p.Thr150Met) c.200C>T (p.Thr67Met) c.316C>T c.380C>T (p.Thr127Met) n.411C>T c.536C>T (p.Thr179Met) c.542C>T (p.Thr181Met) c.509C>T (p.Thr170Met) n.406C>T n.168+11413C>T n.363C>T c.101C>T (p.Thr34Met) c.392C>T (p.Thr131Met) c.372+5348C>T (n.372+5348C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.136261972G>A | CA2631754 | PCCB | c.450G>A (p.Thr150=) c.201G>A (p.Thr67=) c.317G>A c.381G>A (p.Thr127=) n.412G>A c.537G>A (p.Thr179=) c.543G>A (p.Thr181=) c.510G>A (p.Thr170=) n.407G>A n.168+11414G>A n.364G>A c.102G>A (p.Thr34=) c.393G>A (p.Thr131=) c.372+5349G>A (n.372+5349G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.136261972G>C | CA435957424 | PCCB | c.450G>C (p.Thr150=) c.201G>C (p.Thr67=) c.317G>C c.381G>C (p.Thr127=) n.412G>C c.537G>C (p.Thr179=) c.543G>C (p.Thr181=) c.510G>C (p.Thr170=) n.407G>C n.168+11414G>C n.364G>C c.102G>C (p.Thr34=) c.393G>C (p.Thr131=) c.372+5349G>C (n.372+5349G>C) | ClinVar |
3 | g.136261972G= | CA1404287921 | PCCB | c.450G= (p.Thr150=) c.201G= (p.Thr67=) c.317G= c.381G= (p.Thr127=) n.412G= c.537G= (p.Thr179=) c.543G= (p.Thr181=) c.510G= (p.Thr170=) n.407G= n.168+11414G= n.364G= c.102G= (p.Thr34=) c.393G= (p.Thr131=) c.372+5349G= (n.372+5349G=) | |
3 | g.136261972G>T | CA435957425 | PCCB | c.450G>T (p.Thr150=) c.201G>T (p.Thr67=) c.317G>T c.381G>T (p.Thr127=) n.412G>T c.537G>T (p.Thr179=) c.543G>T (p.Thr181=) c.510G>T (p.Thr170=) n.407G>T n.168+11414G>T n.364G>T c.102G>T (p.Thr34=) c.393G>T (p.Thr131=) c.372+5349G>T (n.372+5349G>T) | ClinVar gnomAD v4 |
3 | g.136261974_136261977del | CA2667839511 | PCCB | c.452_455del (p.Val151GlyfsTer4) c.203_206del (p.Val68GlyfsTer4) c.319_322del c.383_386del (p.Val128GlyfsTer4) n.414_417del c.539_542del (p.Val180GlyfsTer4) c.545_548del (p.Val182GlyfsTer4) c.512_515del (p.Val171GlyfsTer4) n.409_412del n.168+11416_168+11419del n.366_369del c.104_107del (p.Val35GlyfsTer4) c.395_398del (p.Val132GlyfsTer4) c.372+5351_372+5354del (n.372+5351_372+5354del) | gnomAD v4 |
3 | g.136261973G>A | CA354739568 | PCCB | c.451G>A (p.Val151Met) c.202G>A (p.Val68Met) c.318G>A c.382G>A (p.Val128Met) n.413G>A c.538G>A (p.Val180Met) c.544G>A (p.Val182Met) c.511G>A (p.Val171Met) n.408G>A n.168+11415G>A n.365G>A c.103G>A (p.Val35Met) c.394G>A (p.Val132Met) c.372+5350G>A (n.372+5350G>A) | gnomAD v4 |
3 | g.136261973G>C | CA354739570 | PCCB | c.451G>C (p.Val151Leu) c.202G>C (p.Val68Leu) c.318G>C c.382G>C (p.Val128Leu) n.413G>C c.538G>C (p.Val180Leu) c.544G>C (p.Val182Leu) c.511G>C (p.Val171Leu) n.408G>C n.168+11415G>C n.365G>C c.103G>C (p.Val35Leu) c.394G>C (p.Val132Leu) c.372+5350G>C (n.372+5350G>C) | |
3 | g.136261973G>T | CA354739571 | PCCB | c.451G>T (p.Val151Leu) c.202G>T (p.Val68Leu) c.318G>T c.382G>T (p.Val128Leu) n.413G>T c.538G>T (p.Val180Leu) c.544G>T (p.Val182Leu) c.511G>T (p.Val171Leu) n.408G>T n.168+11415G>T n.365G>T c.103G>T (p.Val35Leu) c.394G>T (p.Val132Leu) c.372+5350G>T (n.372+5350G>T) | |
3 | g.136261974T>A | CA354739576 | PCCB | c.452T>A (p.Val151Glu) c.203T>A (p.Val68Glu) c.319T>A c.383T>A (p.Val128Glu) n.414T>A c.539T>A (p.Val180Glu) c.545T>A (p.Val182Glu) c.512T>A (p.Val171Glu) n.409T>A n.168+11416T>A n.366T>A c.104T>A (p.Val35Glu) c.395T>A (p.Val132Glu) c.372+5351T>A (n.372+5351T>A) | |
3 | g.136261974T>C | CA354739573 | PCCB | c.452T>C (p.Val151Ala) c.203T>C (p.Val68Ala) c.319T>C c.383T>C (p.Val128Ala) n.414T>C c.539T>C (p.Val180Ala) c.545T>C (p.Val182Ala) c.512T>C (p.Val171Ala) n.409T>C n.168+11416T>C n.366T>C c.104T>C (p.Val35Ala) c.395T>C (p.Val132Ala) c.372+5351T>C (n.372+5351T>C) | |
3 | g.136261974T>G | CA354739575 | PCCB | c.452T>G (p.Val151Gly) c.203T>G (p.Val68Gly) c.319T>G c.383T>G (p.Val128Gly) n.414T>G c.539T>G (p.Val180Gly) c.545T>G (p.Val182Gly) c.512T>G (p.Val171Gly) n.409T>G n.168+11416T>G n.366T>G c.104T>G (p.Val35Gly) c.395T>G (p.Val132Gly) c.372+5351T>G (n.372+5351T>G) | |
3 | g.136261975G>A | CA435957426 | PCCB | c.453G>A (p.Val151=) c.204G>A (p.Val68=) c.320G>A c.384G>A (p.Val128=) n.415G>A c.540G>A (p.Val180=) c.546G>A (p.Val182=) c.513G>A (p.Val171=) n.410G>A n.168+11417G>A n.367G>A c.105G>A (p.Val35=) c.396G>A (p.Val132=) c.372+5352G>A (n.372+5352G>A) | ClinVar gnomAD v4 |
3 | g.136261975G>C | CA435957427 | PCCB | c.453G>C (p.Val151=) c.204G>C (p.Val68=) c.320G>C c.384G>C (p.Val128=) n.415G>C c.540G>C (p.Val180=) c.546G>C (p.Val182=) c.513G>C (p.Val171=) n.410G>C n.168+11417G>C n.367G>C c.105G>C (p.Val35=) c.396G>C (p.Val132=) c.372+5352G>C (n.372+5352G>C) | |
3 | g.136261975G>T | CA435957428 | PCCB | c.453G>T (p.Val151=) c.204G>T (p.Val68=) c.320G>T c.384G>T (p.Val128=) n.415G>T c.540G>T (p.Val180=) c.546G>T (p.Val182=) c.513G>T (p.Val171=) n.410G>T n.168+11417G>T n.367G>T c.105G>T (p.Val35=) c.396G>T (p.Val132=) c.372+5352G>T (n.372+5352G>T) | gnomAD v4 |
3 | g.136261979del | CA435957429 | PCCB | c.457del (p.Ala153LeufsTer3) c.208del (p.Ala70LeufsTer3) c.324del c.388del (p.Ala130LeufsTer3) n.419del c.544del (p.Ala182LeufsTer3) c.550del (p.Ala184LeufsTer3) c.517del (p.Ala173LeufsTer3) n.414del n.168+11421del n.371del c.109del (p.Ala37LeufsTer3) c.400del (p.Ala134LeufsTer3) c.372+5356del (n.372+5356del) | gnomAD v4 COSMIC |
3 | g.136261976G>A | CA354739577 | PCCB | c.454G>A (p.Gly152Arg) c.205G>A (p.Gly69Arg) c.321G>A c.385G>A (p.Gly129Arg) n.416G>A c.541G>A (p.Gly181Arg) c.547G>A (p.Gly183Arg) c.514G>A (p.Gly172Arg) n.411G>A n.168+11418G>A n.368G>A c.106G>A (p.Gly36Arg) c.397G>A (p.Gly133Arg) c.372+5353G>A (n.372+5353G>A) | dbSNP gnomAD v4 |
3 | g.136261976G>C | CA354739578 | PCCB | c.454G>C (p.Gly152Arg) c.205G>C (p.Gly69Arg) c.321G>C c.385G>C (p.Gly129Arg) n.416G>C c.541G>C (p.Gly181Arg) c.547G>C (p.Gly183Arg) c.514G>C (p.Gly172Arg) n.411G>C n.168+11418G>C n.368G>C c.106G>C (p.Gly36Arg) c.397G>C (p.Gly133Arg) c.372+5353G>C (n.372+5353G>C) | gnomAD v4 |
3 | g.136261976G= | CA1404287922 | PCCB | c.454G= (p.Gly152=) c.205G= (p.Gly69=) c.321G= c.385G= (p.Gly129=) n.416G= c.541G= (p.Gly181=) c.547G= (p.Gly183=) c.514G= (p.Gly172=) n.411G= n.168+11418G= n.368G= c.106G= (p.Gly36=) c.397G= (p.Gly133=) c.372+5353G= (n.372+5353G=) | |
3 | g.136261976G>T | CA354739579 | PCCB | c.454G>T (p.Gly152Trp) c.205G>T (p.Gly69Trp) c.321G>T c.385G>T (p.Gly129Trp) n.416G>T c.541G>T (p.Gly181Trp) c.547G>T (p.Gly183Trp) c.514G>T (p.Gly172Trp) n.411G>T n.168+11418G>T n.368G>T c.106G>T (p.Gly36Trp) c.397G>T (p.Gly133Trp) c.372+5353G>T (n.372+5353G>T) | gnomAD v4 |
3 | g.136261977G>A | CA354739581 | PCCB | c.455G>A (p.Gly152Glu) c.206G>A (p.Gly69Glu) c.322G>A c.386G>A (p.Gly129Glu) n.417G>A c.542G>A (p.Gly181Glu) c.548G>A (p.Gly183Glu) c.515G>A (p.Gly172Glu) n.412G>A n.168+11419G>A n.369G>A c.107G>A (p.Gly36Glu) c.398G>A (p.Gly133Glu) c.372+5354G>A (n.372+5354G>A) | gnomAD v4 |
3 | g.136261977G>C | CA354739583 | PCCB | c.455G>C (p.Gly152Ala) c.206G>C (p.Gly69Ala) c.322G>C c.386G>C (p.Gly129Ala) n.417G>C c.542G>C (p.Gly181Ala) c.548G>C (p.Gly183Ala) c.515G>C (p.Gly172Ala) n.412G>C n.168+11419G>C n.369G>C c.107G>C (p.Gly36Ala) c.398G>C (p.Gly133Ala) c.372+5354G>C (n.372+5354G>C) | |
3 | g.136261977G>T | CA354739585 | PCCB | c.455G>T (p.Gly152Val) c.206G>T (p.Gly69Val) c.322G>T c.386G>T (p.Gly129Val) n.417G>T c.542G>T (p.Gly181Val) c.548G>T (p.Gly183Val) c.515G>T (p.Gly172Val) n.412G>T n.168+11419G>T n.369G>T c.107G>T (p.Gly36Val) c.398G>T (p.Gly133Val) c.372+5354G>T (n.372+5354G>T) | gnomAD v4 |
3 | g.136261978G>A | CA435957433 | PCCB | c.456G>A (p.Gly152=) c.207G>A (p.Gly69=) c.323G>A c.387G>A (p.Gly129=) n.418G>A c.543G>A (p.Gly181=) c.549G>A (p.Gly183=) c.516G>A (p.Gly172=) n.413G>A n.168+11420G>A n.370G>A c.108G>A (p.Gly36=) c.399G>A (p.Gly133=) c.372+5355G>A (n.372+5355G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.136261978G>C | CA435957432 | PCCB | c.456G>C (p.Gly152=) c.207G>C (p.Gly69=) c.323G>C c.387G>C (p.Gly129=) n.418G>C c.543G>C (p.Gly181=) c.549G>C (p.Gly183=) c.516G>C (p.Gly172=) n.413G>C n.168+11420G>C n.370G>C c.108G>C (p.Gly36=) c.399G>C (p.Gly133=) c.372+5355G>C (n.372+5355G>C) | |
3 | g.136261978G= | CA1404287923 | PCCB | c.456G= (p.Gly152=) c.207G= (p.Gly69=) c.323G= c.387G= (p.Gly129=) n.418G= c.543G= (p.Gly181=) c.549G= (p.Gly183=) c.516G= (p.Gly172=) n.413G= n.168+11420G= n.370G= c.108G= (p.Gly36=) c.399G= (p.Gly133=) c.372+5355G= (n.372+5355G=) | |
3 | g.136261978G>T | CA435957431 | PCCB | c.456G>T (p.Gly152=) c.207G>T (p.Gly69=) c.323G>T c.387G>T (p.Gly129=) n.418G>T c.543G>T (p.Gly181=) c.549G>T (p.Gly183=) c.516G>T (p.Gly172=) n.413G>T n.168+11420G>T n.370G>T c.108G>T (p.Gly36=) c.399G>T (p.Gly133=) c.372+5355G>T (n.372+5355G>T) | gnomAD v4 |
3 | g.136261979G>A | CA354739588 | PCCB | c.457G>A (p.Ala153Thr) c.208G>A (p.Ala70Thr) c.324G>A c.388G>A (p.Ala130Thr) n.419G>A c.544G>A (p.Ala182Thr) c.550G>A (p.Ala184Thr) c.517G>A (p.Ala173Thr) n.414G>A n.168+11421G>A n.371G>A c.109G>A (p.Ala37Thr) c.400G>A (p.Ala134Thr) c.372+5356G>A (n.372+5356G>A) | gnomAD v4 |
3 | g.136261979G>C | CA343145 | PCCB | c.457G>C (p.Ala153Pro) c.208G>C (p.Ala70Pro) c.324G>C c.388G>C (p.Ala130Pro) n.419G>C c.544G>C (p.Ala182Pro) c.550G>C (p.Ala184Pro) c.517G>C (p.Ala173Pro) n.414G>C n.168+11421G>C n.371G>C c.109G>C (p.Ala37Pro) c.400G>C (p.Ala134Pro) c.372+5356G>C (n.372+5356G>C) | ClinVar dbSNP gnomAD v4 |
3 | g.136261979G= | CA1404287924 | PCCB | c.457G= (p.Ala153=) c.208G= (p.Ala70=) c.324G= c.388G= (p.Ala130=) n.419G= c.544G= (p.Ala182=) c.550G= (p.Ala184=) c.517G= (p.Ala173=) n.414G= n.168+11421G= n.371G= c.109G= (p.Ala37=) c.400G= (p.Ala134=) c.372+5356G= (n.372+5356G=) | |
3 | g.136261979G>T | CA354739586 | PCCB | c.457G>T (p.Ala153Ser) c.208G>T (p.Ala70Ser) c.324G>T c.388G>T (p.Ala130Ser) n.419G>T c.544G>T (p.Ala182Ser) c.550G>T (p.Ala184Ser) c.517G>T (p.Ala173Ser) n.414G>T n.168+11421G>T n.371G>T c.109G>T (p.Ala37Ser) c.400G>T (p.Ala134Ser) c.372+5356G>T (n.372+5356G>T) | gnomAD v4 |
3 | g.136261980C>A | CA354739589 | PCCB | c.458C>A (p.Ala153Asp) c.209C>A (p.Ala70Asp) c.325C>A c.389C>A (p.Ala130Asp) n.420C>A c.545C>A (p.Ala182Asp) c.551C>A (p.Ala184Asp) c.518C>A (p.Ala173Asp) n.415C>A n.168+11422C>A n.372C>A c.110C>A (p.Ala37Asp) c.401C>A (p.Ala134Asp) c.372+5357C>A (n.372+5357C>A) | gnomAD v4 |
3 | g.136261980C>G | CA354739590 | PCCB | c.458C>G (p.Ala153Gly) c.209C>G (p.Ala70Gly) c.325C>G c.389C>G (p.Ala130Gly) n.420C>G c.545C>G (p.Ala182Gly) c.551C>G (p.Ala184Gly) c.518C>G (p.Ala173Gly) n.415C>G n.168+11422C>G n.372C>G c.110C>G (p.Ala37Gly) c.401C>G (p.Ala134Gly) c.372+5357C>G (n.372+5357C>G) | |
3 | g.136261980C>T | CA354739591 | PCCB | c.458C>T (p.Ala153Val) c.209C>T (p.Ala70Val) c.325C>T c.389C>T (p.Ala130Val) n.420C>T c.545C>T (p.Ala182Val) c.551C>T (p.Ala184Val) c.518C>T (p.Ala173Val) n.415C>T n.168+11422C>T n.372C>T c.110C>T (p.Ala37Val) c.401C>T (p.Ala134Val) c.372+5357C>T (n.372+5357C>T) | gnomAD v4 |
3 | g.136261981T>A | CA435957434 | PCCB | c.459T>A (p.Ala153=) c.210T>A (p.Ala70=) c.326T>A c.390T>A (p.Ala130=) n.421T>A c.546T>A (p.Ala182=) c.552T>A (p.Ala184=) c.519T>A (p.Ala173=) n.416T>A n.168+11423T>A n.373T>A c.111T>A (p.Ala37=) c.402T>A (p.Ala134=) c.372+5358T>A (n.372+5358T>A) | ClinVar dbSNP gnomAD v4 |
3 | g.136261981T>C | CA435957435 | PCCB | c.459T>C (p.Ala153=) c.210T>C (p.Ala70=) c.326T>C c.390T>C (p.Ala130=) n.421T>C c.546T>C (p.Ala182=) c.552T>C (p.Ala184=) c.519T>C (p.Ala173=) n.416T>C n.168+11423T>C n.373T>C c.111T>C (p.Ala37=) c.402T>C (p.Ala134=) c.372+5358T>C (n.372+5358T>C) | gnomAD v4 |
3 | g.136261981T>G | CA435957436 | PCCB | c.459T>G (p.Ala153=) c.210T>G (p.Ala70=) c.326T>G c.390T>G (p.Ala130=) n.421T>G c.546T>G (p.Ala182=) c.552T>G (p.Ala184=) c.519T>G (p.Ala173=) n.416T>G n.168+11423T>G n.373T>G c.111T>G (p.Ala37=) c.402T>G (p.Ala134=) c.372+5358T>G (n.372+5358T>G) | |
3 | g.136261982C>A | CA354739592 | PCCB | c.460C>A (p.Pro154Thr) c.211C>A (p.Pro71Thr) c.327C>A c.391C>A (p.Pro131Thr) n.422C>A c.547C>A (p.Pro183Thr) c.553C>A (p.Pro185Thr) c.520C>A (p.Pro174Thr) n.417C>A n.168+11424C>A n.374C>A c.112C>A (p.Pro38Thr) c.403C>A (p.Pro135Thr) c.372+5359C>A (n.372+5359C>A) | gnomAD v4 |
3 | g.136261982C= | CA1404287925 | PCCB | c.460C= (p.Pro154=) c.211C= (p.Pro71=) c.327C= c.391C= (p.Pro131=) n.422C= c.547C= (p.Pro183=) c.553C= (p.Pro185=) c.520C= (p.Pro174=) n.417C= n.168+11424C= n.374C= c.112C= (p.Pro38=) c.403C= (p.Pro135=) c.372+5359C= (n.372+5359C=) | |
3 | g.136261982C>G | CA354739593 | PCCB | c.460C>G (p.Pro154Ala) c.211C>G (p.Pro71Ala) c.327C>G c.391C>G (p.Pro131Ala) n.422C>G c.547C>G (p.Pro183Ala) c.553C>G (p.Pro185Ala) c.520C>G (p.Pro174Ala) n.417C>G n.168+11424C>G n.374C>G c.112C>G (p.Pro38Ala) c.403C>G (p.Pro135Ala) c.372+5359C>G (n.372+5359C>G) | |
3 | g.136261982C>T | CA354739594 | PCCB | c.460C>T (p.Pro154Ser) c.211C>T (p.Pro71Ser) c.327C>T c.391C>T (p.Pro131Ser) n.422C>T c.547C>T (p.Pro183Ser) c.553C>T (p.Pro185Ser) c.520C>T (p.Pro174Ser) n.417C>T n.168+11424C>T n.374C>T c.112C>T (p.Pro38Ser) c.403C>T (p.Pro135Ser) c.372+5359C>T (n.372+5359C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.136261983C>A | CA354739597 | PCCB | c.461C>A (p.Pro154Gln) c.212C>A (p.Pro71Gln) c.328C>A c.392C>A (p.Pro131Gln) n.423C>A c.548C>A (p.Pro183Gln) c.554C>A (p.Pro185Gln) c.521C>A (p.Pro174Gln) n.418C>A n.168+11425C>A n.375C>A c.113C>A (p.Pro38Gln) c.404C>A (p.Pro135Gln) c.372+5360C>A (n.372+5360C>A) | gnomAD v4 |
3 | g.136261983C>G | CA354739595 | PCCB | c.461C>G (p.Pro154Arg) c.212C>G (p.Pro71Arg) c.328C>G c.392C>G (p.Pro131Arg) n.423C>G c.548C>G (p.Pro183Arg) c.554C>G (p.Pro185Arg) c.521C>G (p.Pro174Arg) n.418C>G n.168+11425C>G n.375C>G c.113C>G (p.Pro38Arg) c.404C>G (p.Pro135Arg) c.372+5360C>G (n.372+5360C>G) | |
3 | g.136261983C>T | CA354739596 | PCCB | c.461C>T (p.Pro154Leu) c.212C>T (p.Pro71Leu) c.328C>T c.392C>T (p.Pro131Leu) n.423C>T c.548C>T (p.Pro183Leu) c.554C>T (p.Pro185Leu) c.521C>T (p.Pro174Leu) n.418C>T n.168+11425C>T n.375C>T c.113C>T (p.Pro38Leu) c.404C>T (p.Pro135Leu) c.372+5360C>T (n.372+5360C>T) | ClinVar gnomAD v4 |
3 | g.136261984A= | CA1404287926 | PCCB | c.462A= (p.Pro154=) c.213A= (p.Pro71=) c.329A= c.393A= (p.Pro131=) n.424A= c.549A= (p.Pro183=) c.555A= (p.Pro185=) c.522A= (p.Pro174=) n.419A= n.168+11426A= n.376A= c.114A= (p.Pro38=) c.405A= (p.Pro135=) c.372+5361A= (n.372+5361A=) | |
3 | g.136261984A>C | CA435957437 | PCCB | c.462A>C (p.Pro154=) c.213A>C (p.Pro71=) c.329A>C c.393A>C (p.Pro131=) n.424A>C c.549A>C (p.Pro183=) c.555A>C (p.Pro185=) c.522A>C (p.Pro174=) n.419A>C n.168+11426A>C n.376A>C c.114A>C (p.Pro38=) c.405A>C (p.Pro135=) c.372+5361A>C (n.372+5361A>C) | gnomAD v4 |
3 | g.136261984A>G | CA435957438 | PCCB | c.462A>G (p.Pro154=) c.213A>G (p.Pro71=) c.329A>G c.393A>G (p.Pro131=) n.424A>G c.549A>G (p.Pro183=) c.555A>G (p.Pro185=) c.522A>G (p.Pro174=) n.419A>G n.168+11426A>G n.376A>G c.114A>G (p.Pro38=) c.405A>G (p.Pro135=) c.372+5361A>G (n.372+5361A>G) | ClinVar dbSNP gnomAD v4 |
3 | g.136261984A>T | CA435957439 | PCCB | c.462A>T (p.Pro154=) c.213A>T (p.Pro71=) c.329A>T c.393A>T (p.Pro131=) n.424A>T c.549A>T (p.Pro183=) c.555A>T (p.Pro185=) c.522A>T (p.Pro174=) n.419A>T n.168+11426A>T n.376A>T c.114A>T (p.Pro38=) c.405A>T (p.Pro135=) c.372+5361A>T (n.372+5361A>T) | gnomAD v4 |
3 | g.136261985G>A | CA354739598 | PCCB | c.463G>A (p.Val155Met) c.214G>A (p.Val72Met) c.330G>A c.394G>A (p.Val132Met) n.425G>A c.550G>A (p.Val184Met) c.556G>A (p.Val186Met) c.523G>A (p.Val175Met) n.420G>A n.168+11427G>A n.377G>A c.115G>A (p.Val39Met) c.406G>A (p.Val136Met) c.372+5362G>A (n.372+5362G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.136261985G>C | CA354739599 | PCCB | c.463G>C (p.Val155Leu) c.214G>C (p.Val72Leu) c.330G>C c.394G>C (p.Val132Leu) n.425G>C c.550G>C (p.Val184Leu) c.556G>C (p.Val186Leu) c.523G>C (p.Val175Leu) n.420G>C n.168+11427G>C n.377G>C c.115G>C (p.Val39Leu) c.406G>C (p.Val136Leu) c.372+5362G>C (n.372+5362G>C) | gnomAD v4 |
3 | g.136261985G= | CA1404287927 | PCCB | c.463G= (p.Val155=) c.214G= (p.Val72=) c.330G= c.394G= (p.Val132=) n.425G= c.550G= (p.Val184=) c.556G= (p.Val186=) c.523G= (p.Val175=) n.420G= n.168+11427G= n.377G= c.115G= (p.Val39=) c.406G= (p.Val136=) c.372+5362G= (n.372+5362G=) | |
3 | g.136261985G>T | CA354739600 | PCCB | c.463G>T (p.Val155Leu) c.214G>T (p.Val72Leu) c.330G>T c.394G>T (p.Val132Leu) n.425G>T c.550G>T (p.Val184Leu) c.556G>T (p.Val186Leu) c.523G>T (p.Val175Leu) n.420G>T n.168+11427G>T n.377G>T c.115G>T (p.Val39Leu) c.406G>T (p.Val136Leu) c.372+5362G>T (n.372+5362G>T) | gnomAD v4 |
3 | g.136261986T>A | CA354739602 | PCCB | c.464T>A (p.Val155Glu) c.215T>A (p.Val72Glu) c.331T>A c.395T>A (p.Val132Glu) n.426T>A c.551T>A (p.Val184Glu) c.557T>A (p.Val186Glu) c.524T>A (p.Val175Glu) n.421T>A n.168+11428T>A n.378T>A c.116T>A (p.Val39Glu) c.407T>A (p.Val136Glu) c.372+5363T>A (n.372+5363T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.136261986T>C | CA354739604 | PCCB | c.464T>C (p.Val155Ala) c.215T>C (p.Val72Ala) c.331T>C c.395T>C (p.Val132Ala) n.426T>C c.551T>C (p.Val184Ala) c.557T>C (p.Val186Ala) c.524T>C (p.Val175Ala) n.421T>C n.168+11428T>C n.378T>C c.116T>C (p.Val39Ala) c.407T>C (p.Val136Ala) c.372+5363T>C (n.372+5363T>C) | gnomAD v4 |
3 | g.136261986T>G | CA84266989 | PCCB | c.464T>G (p.Val155Gly) c.215T>G (p.Val72Gly) c.331T>G c.395T>G (p.Val132Gly) n.426T>G c.551T>G (p.Val184Gly) c.557T>G (p.Val186Gly) c.524T>G (p.Val175Gly) n.421T>G n.168+11428T>G n.378T>G c.116T>G (p.Val39Gly) c.407T>G (p.Val136Gly) c.372+5363T>G (n.372+5363T>G) | dbSNP gnomAD v4 |
3 | g.136261986T= | CA1404287928 | PCCB | c.464T= (p.Val155=) c.215T= (p.Val72=) c.331T= c.395T= (p.Val132=) n.426T= c.551T= (p.Val184=) c.557T= (p.Val186=) c.524T= (p.Val175=) n.421T= n.168+11428T= n.378T= c.116T= (p.Val39=) c.407T= (p.Val136=) c.372+5363T= (n.372+5363T=) | |
3 | g.136261987G>A | CA435957440 | PCCB | c.465G>A (p.Val155=) c.216G>A (p.Val72=) c.332G>A c.396G>A (p.Val132=) n.427G>A c.552G>A (p.Val184=) c.558G>A (p.Val186=) c.525G>A (p.Val175=) n.422G>A n.168+11429G>A n.379G>A c.117G>A (p.Val39=) c.408G>A (p.Val136=) c.372+5364G>A (n.372+5364G>A) | gnomAD v4 |
3 | g.136261987G>C | CA435957441 | PCCB | c.465G>C (p.Val155=) c.216G>C (p.Val72=) c.332G>C c.396G>C (p.Val132=) n.427G>C c.552G>C (p.Val184=) c.558G>C (p.Val186=) c.525G>C (p.Val175=) n.422G>C n.168+11429G>C n.379G>C c.117G>C (p.Val39=) c.408G>C (p.Val136=) c.372+5364G>C (n.372+5364G>C) | |
3 | g.136261987G>T | CA435957442 | PCCB | c.465G>T (p.Val155=) c.216G>T (p.Val72=) c.332G>T c.396G>T (p.Val132=) n.427G>T c.552G>T (p.Val184=) c.558G>T (p.Val186=) c.525G>T (p.Val175=) n.422G>T n.168+11429G>T n.379G>T c.117G>T (p.Val39=) c.408G>T (p.Val136=) c.372+5364G>T (n.372+5364G>T) | gnomAD v4 |
3 | g.136261988A>C | CA354739605 | PCCB | c.466A>C (p.Ile156Leu) c.217A>C (p.Ile73Leu) c.333A>C c.397A>C (p.Ile133Leu) n.428A>C c.553A>C (p.Ile185Leu) c.559A>C (p.Ile187Leu) c.526A>C (p.Ile176Leu) n.423A>C n.168+11430A>C n.380A>C c.118A>C (p.Ile40Leu) c.409A>C (p.Ile137Leu) c.372+5365A>C (n.372+5365A>C) | |
3 | g.136261988A>G | CA354739606 | PCCB | c.466A>G (p.Ile156Val) c.217A>G (p.Ile73Val) c.333A>G c.397A>G (p.Ile133Val) n.428A>G c.553A>G (p.Ile185Val) c.559A>G (p.Ile187Val) c.526A>G (p.Ile176Val) n.423A>G n.168+11430A>G n.380A>G c.118A>G (p.Ile40Val) c.409A>G (p.Ile137Val) c.372+5365A>G (n.372+5365A>G) | gnomAD v4 |
3 | g.136261988A>T | CA354739608 | PCCB | c.466A>T (p.Ile156Phe) c.217A>T (p.Ile73Phe) c.333A>T c.397A>T (p.Ile133Phe) n.428A>T c.553A>T (p.Ile185Phe) c.559A>T (p.Ile187Phe) c.526A>T (p.Ile176Phe) n.423A>T n.168+11430A>T n.380A>T c.118A>T (p.Ile40Phe) c.409A>T (p.Ile137Phe) c.372+5365A>T (n.372+5365A>T) | |
3 | g.136261989T>A | CA354739610 | PCCB | c.467T>A (p.Ile156Asn) c.218T>A (p.Ile73Asn) c.334T>A c.398T>A (p.Ile133Asn) n.429T>A c.554T>A (p.Ile185Asn) c.560T>A (p.Ile187Asn) c.527T>A (p.Ile176Asn) n.424T>A n.168+11431T>A n.381T>A c.119T>A (p.Ile40Asn) c.410T>A (p.Ile137Asn) c.372+5366T>A (n.372+5366T>A) | |
3 | g.136261989T>C | CA354739611 | PCCB | c.467T>C (p.Ile156Thr) c.218T>C (p.Ile73Thr) c.334T>C c.398T>C (p.Ile133Thr) n.429T>C c.554T>C (p.Ile185Thr) c.560T>C (p.Ile187Thr) c.527T>C (p.Ile176Thr) n.424T>C n.168+11431T>C n.381T>C c.119T>C (p.Ile40Thr) c.410T>C (p.Ile137Thr) c.372+5366T>C (n.372+5366T>C) | ClinVar dbSNP gnomAD v4 |
3 | g.136261989T>G | CA354739612 | PCCB | c.467T>G (p.Ile156Ser) c.218T>G (p.Ile73Ser) c.334T>G c.398T>G (p.Ile133Ser) n.429T>G c.554T>G (p.Ile185Ser) c.560T>G (p.Ile187Ser) c.527T>G (p.Ile176Ser) n.424T>G n.168+11431T>G n.381T>G c.119T>G (p.Ile40Ser) c.410T>G (p.Ile137Ser) c.372+5366T>G (n.372+5366T>G) | |
3 | g.136261989T= | CA1404287929 | PCCB | c.467T= (p.Ile156=) c.218T= (p.Ile73=) c.334T= c.398T= (p.Ile133=) n.429T= c.554T= (p.Ile185=) c.560T= (p.Ile187=) c.527T= (p.Ile176=) n.424T= n.168+11431T= n.381T= c.119T= (p.Ile40=) c.410T= (p.Ile137=) c.372+5366T= (n.372+5366T=) | |
3 | g.136261990T>A | CA435957443 | PCCB | c.468T>A (p.Ile156=) c.219T>A (p.Ile73=) c.335T>A c.399T>A (p.Ile133=) n.430T>A c.555T>A (p.Ile185=) c.561T>A (p.Ile187=) c.528T>A (p.Ile176=) n.425T>A n.168+11432T>A n.382T>A c.120T>A (p.Ile40=) c.411T>A (p.Ile137=) c.372+5367T>A (n.372+5367T>A) | |
3 | g.136261990T>C | CA435957444 | PCCB | c.468T>C (p.Ile156=) c.219T>C (p.Ile73=) c.335T>C c.399T>C (p.Ile133=) n.430T>C c.555T>C (p.Ile185=) c.561T>C (p.Ile187=) c.528T>C (p.Ile176=) n.425T>C n.168+11432T>C n.382T>C c.120T>C (p.Ile40=) c.411T>C (p.Ile137=) c.372+5367T>C (n.372+5367T>C) | gnomAD v4 |
3 | g.136261990T>G | CA354739613 | PCCB | c.468T>G (p.Ile156Met) c.219T>G (p.Ile73Met) c.335T>G c.399T>G (p.Ile133Met) n.430T>G c.555T>G (p.Ile185Met) c.561T>G (p.Ile187Met) c.528T>G (p.Ile176Met) n.425T>G n.168+11432T>G n.382T>G c.120T>G (p.Ile40Met) c.411T>G (p.Ile137Met) c.372+5367T>G (n.372+5367T>G) | gnomAD v4 |
3 | g.136261991G>A | CA354739614 | PCCB | c.469G>A (p.Gly157Arg) c.220G>A (p.Gly74Arg) c.336G>A c.400G>A (p.Gly134Arg) n.431G>A c.556G>A (p.Gly186Arg) c.562G>A (p.Gly188Arg) c.529G>A (p.Gly177Arg) n.426G>A n.168+11433G>A n.383G>A c.121G>A (p.Gly41Arg) c.412G>A (p.Gly138Arg) c.372+5368G>A (n.372+5368G>A) | gnomAD v4 |
3 | g.136261991G>C | CA354739616 | PCCB | c.469G>C (p.Gly157Arg) c.220G>C (p.Gly74Arg) c.336G>C c.400G>C (p.Gly134Arg) n.431G>C c.556G>C (p.Gly186Arg) c.562G>C (p.Gly188Arg) c.529G>C (p.Gly177Arg) n.426G>C n.168+11433G>C n.383G>C c.121G>C (p.Gly41Arg) c.412G>C (p.Gly138Arg) c.372+5368G>C (n.372+5368G>C) | |
3 | g.136261991G>T | CA354739615 | PCCB | c.469G>T (p.Gly157Trp) c.220G>T (p.Gly74Trp) c.336G>T c.400G>T (p.Gly134Trp) n.431G>T c.556G>T (p.Gly186Trp) c.562G>T (p.Gly188Trp) c.529G>T (p.Gly177Trp) n.426G>T n.168+11433G>T n.383G>T c.121G>T (p.Gly41Trp) c.412G>T (p.Gly138Trp) c.372+5368G>T (n.372+5368G>T) | gnomAD v4 |
3 | g.136261993del | CA2667839512 | PCCB | c.471del (p.Leu158Ter) c.222del (p.Leu75Ter) c.338del c.402del (p.Leu135Ter) n.433del c.558del (p.Leu187Ter) c.564del (p.Leu189Ter) c.531del (p.Leu178Ter) n.428del n.168+11435del n.385del c.123del (p.Leu42Ter) c.414del (p.Leu139Ter) c.372+5370del (n.372+5370del) | gnomAD v4 |
3 | g.136261992G>A | CA354739618 | PCCB | c.470G>A (p.Gly157Glu) c.221G>A (p.Gly74Glu) c.337G>A c.401G>A (p.Gly134Glu) n.432G>A c.557G>A (p.Gly186Glu) c.563G>A (p.Gly188Glu) c.530G>A (p.Gly177Glu) n.427G>A n.168+11434G>A n.384G>A c.122G>A (p.Gly41Glu) c.413G>A (p.Gly138Glu) c.372+5369G>A (n.372+5369G>A) | gnomAD v4 |
3 | g.136261992G>C | CA354739619 | PCCB | c.470G>C (p.Gly157Ala) c.221G>C (p.Gly74Ala) c.337G>C c.401G>C (p.Gly134Ala) n.432G>C c.557G>C (p.Gly186Ala) c.563G>C (p.Gly188Ala) c.530G>C (p.Gly177Ala) n.427G>C n.168+11434G>C n.384G>C c.122G>C (p.Gly41Ala) c.413G>C (p.Gly138Ala) c.372+5369G>C (n.372+5369G>C) | |
3 | g.136261992G>T | CA354739620 | PCCB | c.470G>T (p.Gly157Val) c.221G>T (p.Gly74Val) c.337G>T c.401G>T (p.Gly134Val) n.432G>T c.557G>T (p.Gly186Val) c.563G>T (p.Gly188Val) c.530G>T (p.Gly177Val) n.427G>T n.168+11434G>T n.384G>T c.122G>T (p.Gly41Val) c.413G>T (p.Gly138Val) c.372+5369G>T (n.372+5369G>T) | gnomAD v4 |
3 | g.136261993G>A | CA435957445 | PCCB | c.471G>A (p.Gly157=) c.222G>A (p.Gly74=) c.338G>A c.402G>A (p.Gly134=) n.433G>A c.558G>A (p.Gly186=) c.564G>A (p.Gly188=) c.531G>A (p.Gly177=) n.428G>A n.168+11435G>A n.385G>A c.123G>A (p.Gly41=) c.414G>A (p.Gly138=) c.372+5370G>A (n.372+5370G>A) | gnomAD v4 |
3 | g.136261993G>C | CA435957446 | PCCB | c.471G>C (p.Gly157=) c.222G>C (p.Gly74=) c.338G>C c.402G>C (p.Gly134=) n.433G>C c.558G>C (p.Gly186=) c.564G>C (p.Gly188=) c.531G>C (p.Gly177=) n.428G>C n.168+11435G>C n.385G>C c.123G>C (p.Gly41=) c.414G>C (p.Gly138=) c.372+5370G>C (n.372+5370G>C) | |
3 | g.136261993G>T | CA435957447 | PCCB | c.471G>T (p.Gly157=) c.222G>T (p.Gly74=) c.338G>T c.402G>T (p.Gly134=) n.433G>T c.558G>T (p.Gly186=) c.564G>T (p.Gly188=) c.531G>T (p.Gly177=) n.428G>T n.168+11435G>T n.385G>T c.123G>T (p.Gly41=) c.414G>T (p.Gly138=) c.372+5370G>T (n.372+5370G>T) | ClinVar dbSNP gnomAD v4 |
3 | g.136261994C>A | CA354739622 | PCCB | c.472C>A (p.Leu158Met) c.223C>A (p.Leu75Met) c.339C>A c.403C>A (p.Leu135Met) n.434C>A c.559C>A (p.Leu187Met) c.565C>A (p.Leu189Met) c.532C>A (p.Leu178Met) n.429C>A n.168+11436C>A n.386C>A c.124C>A (p.Leu42Met) c.415C>A (p.Leu139Met) c.372+5371C>A (n.372+5371C>A) | gnomAD v4 |
3 | g.136261994C>G | CA354739623 | PCCB | c.472C>G (p.Leu158Val) c.223C>G (p.Leu75Val) c.339C>G c.403C>G (p.Leu135Val) n.434C>G c.559C>G (p.Leu187Val) c.565C>G (p.Leu189Val) c.532C>G (p.Leu178Val) n.429C>G n.168+11436C>G n.386C>G c.124C>G (p.Leu42Val) c.415C>G (p.Leu139Val) c.372+5371C>G (n.372+5371C>G) | ClinVar dbSNP gnomAD v4 |
3 | g.136261994C>T | CA435957448 | PCCB | c.472C>T (p.Leu158=) c.223C>T (p.Leu75=) c.339C>T c.403C>T (p.Leu135=) n.434C>T c.559C>T (p.Leu187=) c.565C>T (p.Leu189=) c.532C>T (p.Leu178=) n.429C>T n.168+11436C>T n.386C>T c.124C>T (p.Leu42=) c.415C>T (p.Leu139=) c.372+5371C>T (n.372+5371C>T) | gnomAD v4 |
3 | g.136261995T>A | CA354739625 | PCCB | c.473T>A (p.Leu158Gln) c.224T>A (p.Leu75Gln) c.340T>A c.404T>A (p.Leu135Gln) n.435T>A c.560T>A (p.Leu187Gln) c.566T>A (p.Leu189Gln) c.533T>A (p.Leu178Gln) n.430T>A n.168+11437T>A n.387T>A c.125T>A (p.Leu42Gln) c.416T>A (p.Leu139Gln) c.372+5372T>A (n.372+5372T>A) | gnomAD v4 |
3 | g.136261995T>C | CA354739626 | PCCB | c.473T>C (p.Leu158Pro) c.224T>C (p.Leu75Pro) c.340T>C c.404T>C (p.Leu135Pro) n.435T>C c.560T>C (p.Leu187Pro) c.566T>C (p.Leu189Pro) c.533T>C (p.Leu178Pro) n.430T>C n.168+11437T>C n.387T>C c.125T>C (p.Leu42Pro) c.416T>C (p.Leu139Pro) c.372+5372T>C (n.372+5372T>C) | gnomAD v4 |
3 | g.136261995T>G | CA354739627 | PCCB | c.473T>G (p.Leu158Arg) c.224T>G (p.Leu75Arg) c.340T>G c.404T>G (p.Leu135Arg) n.435T>G c.560T>G (p.Leu187Arg) c.566T>G (p.Leu189Arg) c.533T>G (p.Leu178Arg) n.430T>G n.168+11437T>G n.387T>G c.125T>G (p.Leu42Arg) c.416T>G (p.Leu139Arg) c.372+5372T>G (n.372+5372T>G) | |
3 | g.136261996G>A | CA435957449 | PCCB | c.474G>A (p.Leu158=) c.225G>A (p.Leu75=) c.341G>A c.405G>A (p.Leu135=) n.436G>A c.561G>A (p.Leu187=) c.567G>A (p.Leu189=) c.534G>A (p.Leu178=) n.431G>A n.168+11438G>A n.388G>A c.126G>A (p.Leu42=) c.417G>A (p.Leu139=) c.372+5373G>A (n.372+5373G>A) | ClinVar dbSNP gnomAD v4 |
3 | g.136261996G>C | CA435957451 | PCCB | c.474G>C (p.Leu158=) c.225G>C (p.Leu75=) c.341G>C c.405G>C (p.Leu135=) n.436G>C c.561G>C (p.Leu187=) c.567G>C (p.Leu189=) c.534G>C (p.Leu178=) n.431G>C n.168+11438G>C n.388G>C c.126G>C (p.Leu42=) c.417G>C (p.Leu139=) c.372+5373G>C (n.372+5373G>C) | |
3 | g.136261996G>T | CA435957452 | PCCB | c.474G>T (p.Leu158=) c.225G>T (p.Leu75=) c.341G>T c.405G>T (p.Leu135=) n.436G>T c.561G>T (p.Leu187=) c.567G>T (p.Leu189=) c.534G>T (p.Leu178=) n.431G>T n.168+11438G>T n.388G>T c.126G>T (p.Leu42=) c.417G>T (p.Leu139=) c.372+5373G>T (n.372+5373G>T) | gnomAD v4 |
3 | g.136261997A= | CA1404287930 | PCCB | c.475A= (p.Asn159=) c.226A= (p.Asn76=) c.342A= c.406A= (p.Asn136=) n.437A= c.562A= (p.Asn188=) c.568A= (p.Asn190=) c.535A= (p.Asn179=) n.432A= n.168+11439A= n.389A= c.127A= (p.Asn43=) c.418A= (p.Asn140=) c.372+5374A= (n.372+5374A=) | |
3 | g.136261997A>C | CA354739630 | PCCB | c.475A>C (p.Asn159His) c.226A>C (p.Asn76His) c.342A>C c.406A>C (p.Asn136His) n.437A>C c.562A>C (p.Asn188His) c.568A>C (p.Asn190His) c.535A>C (p.Asn179His) n.432A>C n.168+11439A>C n.389A>C c.127A>C (p.Asn43His) c.418A>C (p.Asn140His) c.372+5374A>C (n.372+5374A>C) | |
3 | g.136261997A>G | CA2631755 | PCCB | c.475A>G (p.Asn159Asp) c.226A>G (p.Asn76Asp) c.342A>G c.406A>G (p.Asn136Asp) n.437A>G c.562A>G (p.Asn188Asp) c.568A>G (p.Asn190Asp) c.535A>G (p.Asn179Asp) n.432A>G n.168+11439A>G n.389A>G c.127A>G (p.Asn43Asp) c.418A>G (p.Asn140Asp) c.372+5374A>G (n.372+5374A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136261997A>T | CA354739632 | PCCB | c.475A>T (p.Asn159Tyr) c.226A>T (p.Asn76Tyr) c.342A>T c.406A>T (p.Asn136Tyr) n.437A>T c.562A>T (p.Asn188Tyr) c.568A>T (p.Asn190Tyr) c.535A>T (p.Asn179Tyr) n.432A>T n.168+11439A>T n.389A>T c.127A>T (p.Asn43Tyr) c.418A>T (p.Asn140Tyr) c.372+5374A>T (n.372+5374A>T) | gnomAD v4 |
3 | g.136261998A= | CA1404287931 | PCCB | c.476A= (p.Asn159=) c.227A= (p.Asn76=) c.343A= c.407A= (p.Asn136=) n.438A= c.563A= (p.Asn188=) c.569A= (p.Asn190=) c.536A= (p.Asn179=) n.433A= n.168+11440A= n.390A= c.128A= (p.Asn43=) c.419A= (p.Asn140=) c.372+5375A= (n.372+5375A=) | |
3 | g.136261998A>C | CA354739634 | PCCB | c.476A>C (p.Asn159Thr) c.227A>C (p.Asn76Thr) c.343A>C c.407A>C (p.Asn136Thr) n.438A>C c.563A>C (p.Asn188Thr) c.569A>C (p.Asn190Thr) c.536A>C (p.Asn179Thr) n.433A>C n.168+11440A>C n.390A>C c.128A>C (p.Asn43Thr) c.419A>C (p.Asn140Thr) c.372+5375A>C (n.372+5375A>C) | |
3 | g.136261998A>G | CA354739636 | PCCB | c.476A>G (p.Asn159Ser) c.227A>G (p.Asn76Ser) c.343A>G c.407A>G (p.Asn136Ser) n.438A>G c.563A>G (p.Asn188Ser) c.569A>G (p.Asn190Ser) c.536A>G (p.Asn179Ser) n.433A>G n.168+11440A>G n.390A>G c.128A>G (p.Asn43Ser) c.419A>G (p.Asn140Ser) c.372+5375A>G (n.372+5375A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.136261998A>T | CA354739637 | PCCB | c.476A>T (p.Asn159Ile) c.227A>T (p.Asn76Ile) c.343A>T c.407A>T (p.Asn136Ile) n.438A>T c.563A>T (p.Asn188Ile) c.569A>T (p.Asn190Ile) c.536A>T (p.Asn179Ile) n.433A>T n.168+11440A>T n.390A>T c.128A>T (p.Asn43Ile) c.419A>T (p.Asn140Ile) c.372+5375A>T (n.372+5375A>T) | gnomAD v4 |
3 | g.136261999T>A | CA354739638 | PCCB | c.477T>A (p.Asn159Lys) c.228T>A (p.Asn76Lys) c.344T>A c.408T>A (p.Asn136Lys) n.439T>A c.564T>A (p.Asn188Lys) c.570T>A (p.Asn190Lys) c.537T>A (p.Asn179Lys) n.434T>A n.168+11441T>A n.391T>A c.129T>A (p.Asn43Lys) c.420T>A (p.Asn140Lys) c.372+5376T>A (n.372+5376T>A) | ClinVar dbSNP gnomAD v4 |
3 | g.136261999T>C | CA435957454 | PCCB | c.477T>C (p.Asn159=) c.228T>C (p.Asn76=) c.344T>C c.408T>C (p.Asn136=) n.439T>C c.564T>C (p.Asn188=) c.570T>C (p.Asn190=) c.537T>C (p.Asn179=) n.434T>C n.168+11441T>C n.391T>C c.129T>C (p.Asn43=) c.420T>C (p.Asn140=) c.372+5376T>C (n.372+5376T>C) | |
3 | g.136261999T>G | CA2631756 | PCCB | c.477T>G (p.Asn159Lys) c.228T>G (p.Asn76Lys) c.344T>G c.408T>G (p.Asn136Lys) n.439T>G c.564T>G (p.Asn188Lys) c.570T>G (p.Asn190Lys) c.537T>G (p.Asn179Lys) n.434T>G n.168+11441T>G n.391T>G c.129T>G (p.Asn43Lys) c.420T>G (p.Asn140Lys) c.372+5376T>G (n.372+5376T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.136261999T= | CA1404287932 | PCCB | c.477T= (p.Asn159=) c.228T= (p.Asn76=) c.344T= c.408T= (p.Asn136=) n.439T= c.564T= (p.Asn188=) c.570T= (p.Asn190=) c.537T= (p.Asn179=) n.434T= n.168+11441T= n.391T= c.129T= (p.Asn43=) c.420T= (p.Asn140=) c.372+5376T= (n.372+5376T=) | |
3 | g.136262000G>A | CA354739639 | PCCB | c.478G>A (p.Asp160Asn) c.229G>A (p.Asp77Asn) c.345G>A c.409G>A (p.Asp137Asn) n.440G>A c.565G>A (p.Asp189Asn) c.571G>A (p.Asp191Asn) c.538G>A (p.Asp180Asn) n.435G>A n.168+11442G>A n.392G>A c.130G>A (p.Asp44Asn) c.421G>A (p.Asp141Asn) c.372+5377G>A (n.372+5377G>A) | |
3 | g.136262000G>C | CA354739641 | PCCB | c.478G>C (p.Asp160His) c.229G>C (p.Asp77His) c.345G>C c.409G>C (p.Asp137His) n.440G>C c.565G>C (p.Asp189His) c.571G>C (p.Asp191His) c.538G>C (p.Asp180His) n.435G>C n.168+11442G>C n.392G>C c.130G>C (p.Asp44His) c.421G>C (p.Asp141His) c.372+5377G>C (n.372+5377G>C) | |
3 | g.136262000G>T | CA354739642 | PCCB | c.478G>T (p.Asp160Tyr) c.229G>T (p.Asp77Tyr) c.345G>T c.409G>T (p.Asp137Tyr) n.440G>T c.565G>T (p.Asp189Tyr) c.571G>T (p.Asp191Tyr) c.538G>T (p.Asp180Tyr) n.435G>T n.168+11442G>T n.392G>T c.130G>T (p.Asp44Tyr) c.421G>T (p.Asp141Tyr) c.372+5377G>T (n.372+5377G>T) | gnomAD v4 |
3 | g.136262001A>C | CA354739644 | PCCB | c.479A>C (p.Asp160Ala) c.230A>C (p.Asp77Ala) c.346A>C c.410A>C (p.Asp137Ala) n.441A>C c.566A>C (p.Asp189Ala) c.572A>C (p.Asp191Ala) c.539A>C (p.Asp180Ala) n.436A>C n.168+11443A>C n.393A>C c.131A>C (p.Asp44Ala) c.422A>C (p.Asp141Ala) c.372+5378A>C (n.372+5378A>C) | |
3 | g.136262001A>G | CA354739646 | PCCB | c.479A>G (p.Asp160Gly) c.230A>G (p.Asp77Gly) c.346A>G c.410A>G (p.Asp137Gly) n.441A>G c.566A>G (p.Asp189Gly) c.572A>G (p.Asp191Gly) c.539A>G (p.Asp180Gly) n.436A>G n.168+11443A>G n.393A>G c.131A>G (p.Asp44Gly) c.422A>G (p.Asp141Gly) c.372+5378A>G (n.372+5378A>G) | gnomAD v4 |
3 | g.136262001A>T | CA354739647 | PCCB | c.479A>T (p.Asp160Val) c.230A>T (p.Asp77Val) c.346A>T c.410A>T (p.Asp137Val) n.441A>T c.566A>T (p.Asp189Val) c.572A>T (p.Asp191Val) c.539A>T (p.Asp180Val) n.436A>T n.168+11443A>T n.393A>T c.131A>T (p.Asp44Val) c.422A>T (p.Asp141Val) c.372+5378A>T (n.372+5378A>T) | gnomAD v4 |
3 | g.136262002C>A | CA354739648 | PCCB | c.480C>A (p.Asp160Glu) c.231C>A (p.Asp77Glu) c.347C>A c.411C>A (p.Asp137Glu) n.442C>A c.567C>A (p.Asp189Glu) c.573C>A (p.Asp191Glu) c.540C>A (p.Asp180Glu) n.437C>A n.168+11444C>A n.394C>A c.132C>A (p.Asp44Glu) c.423C>A (p.Asp141Glu) c.372+5379C>A (n.372+5379C>A) | gnomAD v4 |
3 | g.136262002C= | CA1404287933 | PCCB | c.480C= (p.Asp160=) c.231C= (p.Asp77=) c.347C= c.411C= (p.Asp137=) n.442C= c.567C= (p.Asp189=) c.573C= (p.Asp191=) c.540C= (p.Asp180=) n.437C= n.168+11444C= n.394C= c.132C= (p.Asp44=) c.423C= (p.Asp141=) c.372+5379C= (n.372+5379C=) | |
3 | g.136262002C>G | CA354739650 | PCCB | c.480C>G (p.Asp160Glu) c.231C>G (p.Asp77Glu) c.347C>G c.411C>G (p.Asp137Glu) n.442C>G c.567C>G (p.Asp189Glu) c.573C>G (p.Asp191Glu) c.540C>G (p.Asp180Glu) n.437C>G n.168+11444C>G n.394C>G c.132C>G (p.Asp44Glu) c.423C>G (p.Asp141Glu) c.372+5379C>G (n.372+5379C>G) | |
3 | g.136262002C>T | CA435957455 | PCCB | c.480C>T (p.Asp160=) c.231C>T (p.Asp77=) c.347C>T c.411C>T (p.Asp137=) n.442C>T c.567C>T (p.Asp189=) c.573C>T (p.Asp191=) c.540C>T (p.Asp180=) n.437C>T n.168+11444C>T n.394C>T c.132C>T (p.Asp44=) c.423C>T (p.Asp141=) c.372+5379C>T (n.372+5379C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.136262003T>A | CA354739651 | PCCB | c.481T>A (p.Ser161Thr) c.232T>A (p.Ser78Thr) c.348T>A c.412T>A (p.Ser138Thr) n.443T>A c.568T>A (p.Ser190Thr) c.574T>A (p.Ser192Thr) c.541T>A (p.Ser181Thr) n.438T>A n.168+11445T>A n.395T>A c.133T>A (p.Ser45Thr) c.424T>A (p.Ser142Thr) c.372+5380T>A (n.372+5380T>A) | gnomAD v4 |
3 | g.136262003T>C | CA354739653 | PCCB | c.481T>C (p.Ser161Pro) c.232T>C (p.Ser78Pro) c.348T>C c.412T>C (p.Ser138Pro) n.443T>C c.568T>C (p.Ser190Pro) c.574T>C (p.Ser192Pro) c.541T>C (p.Ser181Pro) n.438T>C n.168+11445T>C n.395T>C c.133T>C (p.Ser45Pro) c.424T>C (p.Ser142Pro) c.372+5380T>C (n.372+5380T>C) | gnomAD v4 |
3 | g.136262003T>G | CA354739654 | PCCB | c.481T>G (p.Ser161Ala) c.232T>G (p.Ser78Ala) c.348T>G c.412T>G (p.Ser138Ala) n.443T>G c.568T>G (p.Ser190Ala) c.574T>G (p.Ser192Ala) c.541T>G (p.Ser181Ala) n.438T>G n.168+11445T>G n.395T>G c.133T>G (p.Ser45Ala) c.424T>G (p.Ser142Ala) c.372+5380T>G (n.372+5380T>G) | |
3 | g.136262004C>A | CA354739657 | PCCB | c.482C>A (p.Ser161Tyr) c.233C>A (p.Ser78Tyr) c.349C>A c.413C>A (p.Ser138Tyr) n.444C>A c.569C>A (p.Ser190Tyr) c.575C>A (p.Ser192Tyr) c.542C>A (p.Ser181Tyr) n.439C>A n.168+11446C>A n.396C>A c.134C>A (p.Ser45Tyr) c.425C>A (p.Ser142Tyr) c.372+5381C>A (n.372+5381C>A) | gnomAD v4 |
3 | g.136262004C>G | CA354739655 | PCCB | c.482C>G (p.Ser161Cys) c.233C>G (p.Ser78Cys) c.349C>G c.413C>G (p.Ser138Cys) n.444C>G c.569C>G (p.Ser190Cys) c.575C>G (p.Ser192Cys) c.542C>G (p.Ser181Cys) n.439C>G n.168+11446C>G n.396C>G c.134C>G (p.Ser45Cys) c.425C>G (p.Ser142Cys) c.372+5381C>G (n.372+5381C>G) | |
3 | g.136262004C>T | CA354739656 | PCCB | c.482C>T (p.Ser161Phe) c.233C>T (p.Ser78Phe) c.349C>T c.413C>T (p.Ser138Phe) n.444C>T c.569C>T (p.Ser190Phe) c.575C>T (p.Ser192Phe) c.542C>T (p.Ser181Phe) n.439C>T n.168+11446C>T n.396C>T c.134C>T (p.Ser45Phe) c.425C>T (p.Ser142Phe) c.372+5381C>T (n.372+5381C>T) | |
3 | g.136262004_136262006delinsCTG | CA1404287934 | PCCB | c.482_484delinsCTG (p.Ser161=) c.233_235delinsCTG (p.Ser78=) c.349_351delinsCTG c.413_415delinsCTG (p.Ser138=) n.444_446delinsCTG c.569_571delinsCTG (p.Ser190=) c.575_577delinsCTG (p.Ser192=) c.542_544delinsCTG (p.Ser181=) n.439_441delinsCTG n.168+11446_168+11448delinsCTG n.396_398delinsCTG c.134_136delinsCTG (p.Ser45=) c.425_427delinsCTG (p.Ser142=) c.372+5381_372+5383delinsCTG (n.372+5381_372+5383delinsCTG) | |
3 | g.136262005T>A | CA435957456 | PCCB | c.483T>A (p.Ser161=) c.234T>A (p.Ser78=) c.350T>A c.414T>A (p.Ser138=) n.445T>A c.570T>A (p.Ser190=) c.576T>A (p.Ser192=) c.543T>A (p.Ser181=) n.440T>A n.168+11447T>A n.397T>A c.135T>A (p.Ser45=) c.426T>A (p.Ser142=) c.372+5382T>A (n.372+5382T>A) | gnomAD v4 |
3 | g.136262005T>C | CA435957457 | PCCB | c.483T>C (p.Ser161=) c.234T>C (p.Ser78=) c.350T>C c.414T>C (p.Ser138=) n.445T>C c.570T>C (p.Ser190=) c.576T>C (p.Ser192=) c.543T>C (p.Ser181=) n.440T>C n.168+11447T>C n.397T>C c.135T>C (p.Ser45=) c.426T>C (p.Ser142=) c.372+5382T>C (n.372+5382T>C) | gnomAD v4 |
3 | g.136262005T>G | CA2631757 | PCCB | c.483T>G (p.Ser161=) c.234T>G (p.Ser78=) c.350T>G c.414T>G (p.Ser138=) n.445T>G c.570T>G (p.Ser190=) c.576T>G (p.Ser192=) c.543T>G (p.Ser181=) n.440T>G n.168+11447T>G n.397T>G c.135T>G (p.Ser45=) c.426T>G (p.Ser142=) c.372+5382T>G (n.372+5382T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.136262005T= | CA1404287935 | PCCB | c.483T= (p.Ser161=) c.234T= (p.Ser78=) c.350T= c.414T= (p.Ser138=) n.445T= c.570T= (p.Ser190=) c.576T= (p.Ser192=) c.543T= (p.Ser181=) n.440T= n.168+11447T= n.397T= c.135T= (p.Ser45=) c.426T= (p.Ser142=) c.372+5382T= (n.372+5382T=) | |
3 | g.136262005dup | CA913102131 | PCCB | c.483dup (p.Gly162TrpfsTer?) c.234dup (p.Gly79TrpfsTer?) c.350dup c.414dup (p.Gly139TrpfsTer?) n.445dup c.570dup (p.Gly191TrpfsTer?) c.576dup (p.Gly193TrpfsTer?) c.543dup (p.Gly182TrpfsTer?) n.440dup n.168+11447dup n.397dup c.135dup (p.Gly46TrpfsTer?) c.426dup (p.Gly143TrpfsTer?) c.372+5382dup (n.372+5382dup) | |
3 | g.136262005_136262006del | CA546661845 | PCCB | c.483_484del (p.Gly163SerfsTer?) c.234_235del (p.Gly80SerfsTer?) c.350_351del c.414_415del (p.Gly140SerfsTer?) n.445_446del c.570_571del (p.Ser190=) c.576_577del (p.Gly194SerfsTer?) c.543_544del (p.Gly183SerfsTer?) n.440_441del n.168+11447_168+11448del n.397_398del c.135_136del (p.Gly47SerfsTer?) c.426_427del (p.Gly144SerfsTer?) c.372+5382_372+5383del (n.372+5382_372+5383del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.136262005_136262006delinsTG | CA1404287936 | PCCB | c.483_484delinsTG (p.Ser161=) c.234_235delinsTG (p.Ser78=) c.350_351delinsTG c.414_415delinsTG (p.Ser138=) n.445_446delinsTG c.570_571delinsTG (p.Ser190=) c.576_577delinsTG (p.Ser192=) c.543_544delinsTG (p.Ser181=) n.440_441delinsTG n.168+11447_168+11448delinsTG n.397_398delinsTG c.135_136delinsTG (p.Ser45=) c.426_427delinsTG (p.Ser142=) c.372+5382_372+5383delinsTG (n.372+5382_372+5383delinsTG) | |
3 | g.136262006G>A | CA354739659 | PCCB | c.484G>A (p.Gly162Arg) c.235G>A (p.Gly79Arg) c.351G>A c.415G>A (p.Gly139Arg) n.446G>A c.571G>A (p.Gly191Arg) c.577G>A (p.Gly193Arg) c.544G>A (p.Gly182Arg) n.441G>A n.168+11448G>A n.398G>A c.136G>A (p.Gly46Arg) c.427G>A (p.Gly143Arg) c.372+5383G>A (n.372+5383G>A) | ClinVar gnomAD v4 |
3 | g.136262006G>C | CA354739660 | PCCB | c.484G>C (p.Gly162Arg) c.235G>C (p.Gly79Arg) c.351G>C c.415G>C (p.Gly139Arg) n.446G>C c.571G>C (p.Gly191Arg) c.577G>C (p.Gly193Arg) c.544G>C (p.Gly182Arg) n.441G>C n.168+11448G>C n.398G>C c.136G>C (p.Gly46Arg) c.427G>C (p.Gly143Arg) c.372+5383G>C (n.372+5383G>C) | dbSNP gnomAD v2 |
3 | g.136262006G= | CA1404287937 | PCCB | c.484G= (p.Gly162=) c.235G= (p.Gly79=) c.351G= c.415G= (p.Gly139=) n.446G= c.571G= (p.Gly191=) c.577G= (p.Gly193=) c.544G= (p.Gly182=) n.441G= n.168+11448G= n.398G= c.136G= (p.Gly46=) c.427G= (p.Gly143=) c.372+5383G= (n.372+5383G=) | |
3 | g.136262006G>T | CA2631758 | PCCB | c.484G>T (p.Gly162Trp) c.235G>T (p.Gly79Trp) c.351G>T c.415G>T (p.Gly139Trp) n.446G>T c.571G>T (p.Gly191Trp) c.577G>T (p.Gly193Trp) c.544G>T (p.Gly182Trp) n.441G>T n.168+11448G>T n.398G>T c.136G>T (p.Gly46Trp) c.427G>T (p.Gly143Trp) c.372+5383G>T (n.372+5383G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136262010dup | CA546661848 | PCCB | c.488dup (p.Ala164SerfsTer?) c.239dup (p.Ala81SerfsTer?) c.355dup c.419dup (p.Ala141SerfsTer?) n.450dup c.581dup (p.Ala195SerfsTer?) c.548dup (p.Ala184SerfsTer?) n.445dup n.168+11452dup n.402dup c.140dup (p.Ala48SerfsTer?) c.431dup (p.Ala145SerfsTer?) c.372+5387dup (n.372+5387dup) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.136262009_136262010dup | CA658821355 | PCCB | c.487_488dup (p.Ala164GlufsTer19) c.238_239dup (p.Ala81GlufsTer19) c.354_355dup c.418_419dup (p.Ala141GlufsTer19) n.449_450dup c.580_581dup (p.Ala195GlufsTer19) c.547_548dup (p.Ala184GlufsTer19) n.444_445dup n.168+11451_168+11452dup n.401_402dup c.139_140dup (p.Ala48GlufsTer19) c.430_431dup (p.Ala145GlufsTer19) c.372+5386_372+5387dup (n.372+5386_372+5387dup) c.238_239dup (p.Ala81GlufsTer?) | ClinVar dbSNP |
3 | g.136262010del | CA546661846 | PCCB | c.488del (p.Gly163GlufsTer19) c.239del (p.Gly80GlufsTer19) c.355del c.419del (p.Gly140GlufsTer19) n.450del c.575del c.581del (p.Gly194GlufsTer19) c.548del (p.Gly183GlufsTer19) n.445del n.168+11452del n.402del c.140del (p.Gly47GlufsTer19) c.431del (p.Gly144GlufsTer19) c.372+5387del (n.372+5387del) c.239del (p.Gly80GlufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.136262007G>A | CA2631759 | PCCB | c.485G>A (p.Gly162Glu) c.236G>A (p.Gly79Glu) c.352G>A c.416G>A (p.Gly139Glu) n.447G>A c.572G>A (p.Gly191Glu) c.578G>A (p.Gly193Glu) c.545G>A (p.Gly182Glu) n.442G>A n.168+11449G>A n.399G>A c.137G>A (p.Gly46Glu) c.428G>A (p.Gly143Glu) c.372+5384G>A (n.372+5384G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.136262007G>C | CA354739662 | PCCB | c.485G>C (p.Gly162Ala) c.236G>C (p.Gly79Ala) c.352G>C c.416G>C (p.Gly139Ala) n.447G>C c.572G>C (p.Gly191Ala) c.578G>C (p.Gly193Ala) c.545G>C (p.Gly182Ala) n.442G>C n.168+11449G>C n.399G>C c.137G>C (p.Gly46Ala) c.428G>C (p.Gly143Ala) c.372+5384G>C (n.372+5384G>C) | gnomAD v4 |
3 | g.136262007G= | CA1404287938 | PCCB | c.485G= (p.Gly162=) c.236G= (p.Gly79=) c.352G= c.416G= (p.Gly139=) n.447G= c.572G= (p.Gly191=) c.578G= (p.Gly193=) c.545G= (p.Gly182=) n.442G= n.168+11449G= n.399G= c.137G= (p.Gly46=) c.428G= (p.Gly143=) c.372+5384G= (n.372+5384G=) | |
3 | g.136262007G>T | CA354739663 | PCCB | c.485G>T (p.Gly162Val) c.236G>T (p.Gly79Val) c.352G>T c.416G>T (p.Gly139Val) n.447G>T c.572G>T (p.Gly191Val) c.578G>T (p.Gly193Val) c.545G>T (p.Gly182Val) n.442G>T n.168+11449G>T n.399G>T c.137G>T (p.Gly46Val) c.428G>T (p.Gly143Val) c.372+5384G>T (n.372+5384G>T) | gnomAD v4 |
3 | g.136262008G>A | CA435957458 | PCCB | c.486G>A (p.Gly162=) c.237G>A (p.Gly79=) c.353G>A c.417G>A (p.Gly139=) n.448G>A c.573G>A (p.Gly191=) c.579G>A (p.Gly193=) c.546G>A (p.Gly182=) n.443G>A n.168+11450G>A n.400G>A c.138G>A (p.Gly46=) c.429G>A (p.Gly143=) c.372+5385G>A (n.372+5385G>A) | ClinVar gnomAD v4 |
3 | g.136262008G>C | CA435957459 | PCCB | c.486G>C (p.Gly162=) c.237G>C (p.Gly79=) c.353G>C c.417G>C (p.Gly139=) n.448G>C c.573G>C (p.Gly191=) c.579G>C (p.Gly193=) c.546G>C (p.Gly182=) n.443G>C n.168+11450G>C n.400G>C c.138G>C (p.Gly46=) c.429G>C (p.Gly143=) c.372+5385G>C (n.372+5385G>C) | |
3 | g.136262008G= | CA1404287939 | PCCB | c.486G= (p.Gly162=) c.237G= (p.Gly79=) c.353G= c.417G= (p.Gly139=) n.448G= c.573G= (p.Gly191=) c.579G= (p.Gly193=) c.546G= (p.Gly182=) n.443G= n.168+11450G= n.400G= c.138G= (p.Gly46=) c.429G= (p.Gly143=) c.372+5385G= (n.372+5385G=) | |
3 | g.136262008G>T | CA435957460 | PCCB | c.486G>T (p.Gly162=) c.237G>T (p.Gly79=) c.353G>T c.417G>T (p.Gly139=) n.448G>T c.573G>T (p.Gly191=) c.579G>T (p.Gly193=) c.546G>T (p.Gly182=) n.443G>T n.168+11450G>T n.400G>T c.138G>T (p.Gly46=) c.429G>T (p.Gly143=) c.372+5385G>T (n.372+5385G>T) | ClinVar dbSNP gnomAD v4 |
3 | g.136262009G>A | CA354739667 | PCCB | c.487G>A (p.Gly163Arg) c.238G>A (p.Gly80Arg) c.354G>A c.418G>A (p.Gly140Arg) n.449G>A c.574G>A c.580G>A (p.Gly194Arg) c.547G>A (p.Gly183Arg) n.444G>A n.168+11451G>A n.401G>A c.139G>A (p.Gly47Arg) c.430G>A (p.Gly144Arg) c.372+5386G>A (n.372+5386G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.136262009G>C | CA354739664 | PCCB | c.487G>C (p.Gly163Arg) c.238G>C (p.Gly80Arg) c.354G>C c.418G>C (p.Gly140Arg) n.449G>C c.574G>C c.580G>C (p.Gly194Arg) c.547G>C (p.Gly183Arg) n.444G>C n.168+11451G>C n.401G>C c.139G>C (p.Gly47Arg) c.430G>C (p.Gly144Arg) c.372+5386G>C (n.372+5386G>C) | |
3 | g.136262009G= | CA1404287940 | PCCB | c.487G= (p.Gly163=) c.238G= (p.Gly80=) c.354G= c.418G= (p.Gly140=) n.449G= c.574G= c.580G= (p.Gly194=) c.547G= (p.Gly183=) n.444G= n.168+11451G= n.401G= c.139G= (p.Gly47=) c.430G= (p.Gly144=) c.372+5386G= (n.372+5386G=) | |
3 | g.136262009G>T | CA354739666 | PCCB | c.487G>T (p.Gly163Ter) c.238G>T (p.Gly80Ter) c.354G>T c.418G>T (p.Gly140Ter) n.449G>T c.574G>T c.580G>T (p.Gly194Ter) c.547G>T (p.Gly183Ter) n.444G>T n.168+11451G>T n.401G>T c.139G>T (p.Gly47Ter) c.430G>T (p.Gly144Ter) c.372+5386G>T (n.372+5386G>T) | gnomAD v4 |
3 | g.136262010G>A | CA354739668 | PCCB | c.488G>A (p.Gly163Glu) c.239G>A (p.Gly80Glu) c.355G>A c.419G>A (p.Gly140Glu) n.450G>A c.575G>A c.581G>A (p.Gly194Glu) c.548G>A (p.Gly183Glu) n.445G>A n.168+11452G>A n.402G>A c.140G>A (p.Gly47Glu) c.431G>A (p.Gly144Glu) c.372+5387G>A (n.372+5387G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.136262010G>C | CA354739670 | PCCB | c.488G>C (p.Gly163Ala) c.239G>C (p.Gly80Ala) c.355G>C c.419G>C (p.Gly140Ala) n.450G>C c.575G>C c.581G>C (p.Gly194Ala) c.548G>C (p.Gly183Ala) n.445G>C n.168+11452G>C n.402G>C c.140G>C (p.Gly47Ala) c.431G>C (p.Gly144Ala) c.372+5387G>C (n.372+5387G>C) | gnomAD v4 |
3 | g.136262010G= | CA1404287941 | PCCB | c.488G= (p.Gly163=) c.239G= (p.Gly80=) c.355G= c.419G= (p.Gly140=) n.450G= c.575G= c.581G= (p.Gly194=) c.548G= (p.Gly183=) n.445G= n.168+11452G= n.402G= c.140G= (p.Gly47=) c.431G= (p.Gly144=) c.372+5387G= (n.372+5387G=) | |
3 | g.136262010G>T | CA354739672 | PCCB | c.488G>T (p.Gly163Val) c.239G>T (p.Gly80Val) c.355G>T c.419G>T (p.Gly140Val) n.450G>T c.575G>T c.581G>T (p.Gly194Val) c.548G>T (p.Gly183Val) n.445G>T n.168+11452G>T n.402G>T c.140G>T (p.Gly47Val) c.431G>T (p.Gly144Val) c.372+5387G>T (n.372+5387G>T) | gnomAD v4 |
3 | g.136262011A>C | CA435957461 | PCCB | c.489A>C (p.Gly163=) c.240A>C (p.Gly80=) c.356A>C c.420A>C (p.Gly140=) n.451A>C c.582A>C (p.Gly194=) c.549A>C (p.Gly183=) n.446A>C n.168+11453A>C n.403A>C c.141A>C (p.Gly47=) c.432A>C (p.Gly144=) c.372+5388A>C (n.372+5388A>C) | |
3 | g.136262011A>G | CA435957463 | PCCB | c.489A>G (p.Gly163=) c.240A>G (p.Gly80=) c.356A>G c.420A>G (p.Gly140=) n.451A>G c.582A>G (p.Gly194=) c.549A>G (p.Gly183=) n.446A>G n.168+11453A>G n.403A>G c.141A>G (p.Gly47=) c.432A>G (p.Gly144=) c.372+5388A>G (n.372+5388A>G) | gnomAD v4 |
3 | g.136262011A>T | CA435957462 | PCCB | c.489A>T (p.Gly163=) c.240A>T (p.Gly80=) c.356A>T c.420A>T (p.Gly140=) n.451A>T c.582A>T (p.Gly194=) c.549A>T (p.Gly183=) n.446A>T n.168+11453A>T n.403A>T c.141A>T (p.Gly47=) c.432A>T (p.Gly144=) c.372+5388A>T (n.372+5388A>T) | gnomAD v4 |
3 | g.136262012G>A | CA354739674 | PCCB | c.490G>A (p.Ala164Thr) c.241G>A (p.Ala81Thr) c.357G>A c.421G>A (p.Ala141Thr) n.452G>A c.583G>A (p.Ala195Thr) c.550G>A (p.Ala184Thr) n.447G>A n.168+11454G>A n.404G>A c.142G>A (p.Ala48Thr) c.433G>A (p.Ala145Thr) c.372+5389G>A (n.372+5389G>A) | gnomAD v4 COSMIC |
3 | g.136262012G>C | CA354739675 | PCCB | c.490G>C (p.Ala164Pro) c.241G>C (p.Ala81Pro) c.357G>C c.421G>C (p.Ala141Pro) n.452G>C c.583G>C (p.Ala195Pro) c.550G>C (p.Ala184Pro) n.447G>C n.168+11454G>C n.404G>C c.142G>C (p.Ala48Pro) c.433G>C (p.Ala145Pro) c.372+5389G>C (n.372+5389G>C) | gnomAD v4 |
3 | g.136262012G>T | CA354739676 | PCCB | c.490G>T (p.Ala164Ser) c.241G>T (p.Ala81Ser) c.357G>T c.421G>T (p.Ala141Ser) n.452G>T c.583G>T (p.Ala195Ser) c.550G>T (p.Ala184Ser) n.447G>T n.168+11454G>T n.404G>T c.142G>T (p.Ala48Ser) c.433G>T (p.Ala145Ser) c.372+5389G>T (n.372+5389G>T) | gnomAD v4 |
3 | g.136262013C>A | CA354739678 | PCCB | c.491C>A (p.Ala164Glu) c.242C>A (p.Ala81Glu) c.358C>A c.422C>A (p.Ala141Glu) n.453C>A c.584C>A (p.Ala195Glu) c.551C>A (p.Ala184Glu) n.448C>A n.168+11455C>A n.405C>A c.143C>A (p.Ala48Glu) c.434C>A (p.Ala145Glu) c.372+5390C>A (n.372+5390C>A) | gnomAD v4 |
3 | g.136262013C>G | CA354739681 | PCCB | c.491C>G (p.Ala164Gly) c.242C>G (p.Ala81Gly) c.358C>G c.422C>G (p.Ala141Gly) n.453C>G c.584C>G (p.Ala195Gly) c.551C>G (p.Ala184Gly) n.448C>G n.168+11455C>G n.405C>G c.143C>G (p.Ala48Gly) c.434C>G (p.Ala145Gly) c.372+5390C>G (n.372+5390C>G) | |
3 | g.136262013C>T | CA354739680 | PCCB | c.491C>T (p.Ala164Val) c.242C>T (p.Ala81Val) c.358C>T c.422C>T (p.Ala141Val) n.453C>T c.584C>T (p.Ala195Val) c.551C>T (p.Ala184Val) n.448C>T n.168+11455C>T n.405C>T c.143C>T (p.Ala48Val) c.434C>T (p.Ala145Val) c.372+5390C>T (n.372+5390C>T) | gnomAD v4 |
3 | g.136262014A= | CA1404287942 | PCCB | c.492A= (p.Ala164=) c.243A= (p.Ala81=) c.359A= c.423A= (p.Ala141=) n.454A= c.585A= (p.Ala195=) c.552A= (p.Ala184=) n.449A= n.168+11456A= n.406A= c.144A= (p.Ala48=) c.435A= (p.Ala145=) c.372+5391A= (n.372+5391A=) | |
3 | g.136262014A>C | CA435957464 | PCCB | c.492A>C (p.Ala164=) c.243A>C (p.Ala81=) c.359A>C c.423A>C (p.Ala141=) n.454A>C c.585A>C (p.Ala195=) c.552A>C (p.Ala184=) n.449A>C n.168+11456A>C n.406A>C c.144A>C (p.Ala48=) c.435A>C (p.Ala145=) c.372+5391A>C (n.372+5391A>C) | |
3 | g.136262014A>G | CA435957465 | PCCB | c.492A>G (p.Ala164=) c.243A>G (p.Ala81=) c.359A>G c.423A>G (p.Ala141=) n.454A>G c.585A>G (p.Ala195=) c.552A>G (p.Ala184=) n.449A>G n.168+11456A>G n.406A>G c.144A>G (p.Ala48=) c.435A>G (p.Ala145=) c.372+5391A>G (n.372+5391A>G) | dbSNP gnomAD v4 |
3 | g.136262014A>T | CA435957466 | PCCB | c.492A>T (p.Ala164=) c.243A>T (p.Ala81=) c.359A>T c.423A>T (p.Ala141=) n.454A>T c.585A>T (p.Ala195=) c.552A>T (p.Ala184=) n.449A>T n.168+11456A>T n.406A>T c.144A>T (p.Ala48=) c.435A>T (p.Ala145=) c.372+5391A>T (n.372+5391A>T) | gnomAD v4 |
3 | g.136262015del | CA645527632 | PCCB | c.493del (p.Arg165GlyfsTer17) c.244del (p.Arg82GlyfsTer17) c.360del c.424del (p.Arg142GlyfsTer17) n.455del c.586del (p.Arg196GlyfsTer17) c.553del (p.Arg185GlyfsTer17) n.450del n.168+11457del n.407del c.145del (p.Arg49GlyfsTer17) c.436del (p.Arg146GlyfsTer17) c.372+5392del (n.372+5392del) c.244del (p.Arg82GlyfsTer?) | COSMIC |
3 | g.136262015C>A | CA435957467 | PCCB | c.493C>A (p.Arg165=) c.244C>A (p.Arg82=) c.360C>A c.424C>A (p.Arg142=) n.455C>A c.586C>A (p.Arg196=) c.553C>A (p.Arg185=) n.450C>A n.168+11457C>A n.407C>A c.145C>A (p.Arg49=) c.436C>A (p.Arg146=) c.372+5392C>A (n.372+5392C>A) | gnomAD v4 |
3 | g.136262015C= | CA1404287943 | PCCB | c.493C= (p.Arg165=) c.244C= (p.Arg82=) c.360C= c.424C= (p.Arg142=) n.455C= c.586C= (p.Arg196=) c.553C= (p.Arg185=) n.450C= n.168+11457C= n.407C= c.145C= (p.Arg49=) c.436C= (p.Arg146=) c.372+5392C= (n.372+5392C=) | |
3 | g.136262015C>G | CA354739682 | PCCB | c.493C>G (p.Arg165Gly) c.244C>G (p.Arg82Gly) c.360C>G c.424C>G (p.Arg142Gly) n.455C>G c.586C>G (p.Arg196Gly) c.553C>G (p.Arg185Gly) n.450C>G n.168+11457C>G n.407C>G c.145C>G (p.Arg49Gly) c.436C>G (p.Arg146Gly) c.372+5392C>G (n.372+5392C>G) | ClinVar dbSNP |
3 | g.136262015C>T | CA10575810 | PCCB | c.493C>T (p.Arg165Trp) c.244C>T (p.Arg82Trp) c.360C>T c.424C>T (p.Arg142Trp) n.455C>T c.586C>T (p.Arg196Trp) c.553C>T (p.Arg185Trp) n.450C>T n.168+11457C>T n.407C>T c.145C>T (p.Arg49Trp) c.436C>T (p.Arg146Trp) c.372+5392C>T (n.372+5392C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.136262016G>A | CA354739684 | PCCB | c.494G>A (p.Arg165Gln) c.245G>A (p.Arg82Gln) c.361G>A c.425G>A (p.Arg142Gln) n.456G>A c.587G>A (p.Arg196Gln) c.554G>A (p.Arg185Gln) n.451G>A n.168+11458G>A n.408G>A c.146G>A (p.Arg49Gln) c.437G>A (p.Arg146Gln) c.372+5393G>A (n.372+5393G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.136262016G>C | CA354739686 | PCCB | c.494G>C (p.Arg165Pro) c.245G>C (p.Arg82Pro) c.361G>C c.425G>C (p.Arg142Pro) n.456G>C c.587G>C (p.Arg196Pro) c.554G>C (p.Arg185Pro) n.451G>C n.168+11458G>C n.408G>C c.146G>C (p.Arg49Pro) c.437G>C (p.Arg146Pro) c.372+5393G>C (n.372+5393G>C) | ClinVar |
3 | g.136262016G= | CA1404287944 | PCCB | c.494G= (p.Arg165=) c.245G= (p.Arg82=) c.361G= c.425G= (p.Arg142=) n.456G= c.587G= (p.Arg196=) c.554G= (p.Arg185=) n.451G= n.168+11458G= n.408G= c.146G= (p.Arg49=) c.437G= (p.Arg146=) c.372+5393G= (n.372+5393G=) | |
3 | g.136262016G>T | CA354739687 | PCCB | c.494G>T (p.Arg165Leu) c.245G>T (p.Arg82Leu) c.361G>T c.425G>T (p.Arg142Leu) n.456G>T c.587G>T (p.Arg196Leu) c.554G>T (p.Arg185Leu) n.451G>T n.168+11458G>T n.408G>T c.146G>T (p.Arg49Leu) c.437G>T (p.Arg146Leu) c.372+5393G>T (n.372+5393G>T) | gnomAD v4 |
3 | g.136262017G>A | CA435957468 | PCCB | c.495G>A (p.Arg165=) c.246G>A (p.Arg82=) c.362G>A c.426G>A (p.Arg142=) n.457G>A c.588G>A (p.Arg196=) c.555G>A (p.Arg185=) n.452G>A n.168+11459G>A n.409G>A c.147G>A (p.Arg49=) c.438G>A (p.Arg146=) c.372+5394G>A (n.372+5394G>A) | gnomAD v4 |
3 | g.136262017G>C | CA435957470 | PCCB | c.495G>C (p.Arg165=) c.246G>C (p.Arg82=) c.362G>C c.426G>C (p.Arg142=) n.457G>C c.588G>C (p.Arg196=) c.555G>C (p.Arg185=) n.452G>C n.168+11459G>C n.409G>C c.147G>C (p.Arg49=) c.438G>C (p.Arg146=) c.372+5394G>C (n.372+5394G>C) | |
3 | g.136262017G>T | CA435957469 | PCCB | c.495G>T (p.Arg165=) c.246G>T (p.Arg82=) c.362G>T c.426G>T (p.Arg142=) n.457G>T c.588G>T (p.Arg196=) c.555G>T (p.Arg185=) n.452G>T n.168+11459G>T n.409G>T c.147G>T (p.Arg49=) c.438G>T (p.Arg146=) c.372+5394G>T (n.372+5394G>T) | ClinVar gnomAD v4 |
3 | g.136262018A= | CA1404287945 | PCCB | c.496A= (p.Ile166=) c.247A= (p.Ile83=) c.363A= c.427A= (p.Ile143=) n.458A= c.589A= (p.Ile197=) c.556A= (p.Ile186=) n.453A= n.168+11460A= n.410A= c.148A= (p.Ile50=) c.439A= (p.Ile147=) c.372+5395A= (n.372+5395A=) | |
3 | g.136262018A>C | CA354739689 | PCCB | c.496A>C (p.Ile166Leu) c.247A>C (p.Ile83Leu) c.363A>C c.427A>C (p.Ile143Leu) n.458A>C c.589A>C (p.Ile197Leu) c.556A>C (p.Ile186Leu) n.453A>C n.168+11460A>C n.410A>C c.148A>C (p.Ile50Leu) c.439A>C (p.Ile147Leu) c.372+5395A>C (n.372+5395A>C) | gnomAD v4 |
3 | g.136262018A>G | CA84266990 | PCCB | c.496A>G (p.Ile166Val) c.247A>G (p.Ile83Val) c.363A>G c.427A>G (p.Ile143Val) n.458A>G c.589A>G (p.Ile197Val) c.556A>G (p.Ile186Val) n.453A>G n.168+11460A>G n.410A>G c.148A>G (p.Ile50Val) c.439A>G (p.Ile147Val) c.372+5395A>G (n.372+5395A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.136262018A>T | CA354739691 | PCCB | c.496A>T (p.Ile166Phe) c.247A>T (p.Ile83Phe) c.363A>T c.427A>T (p.Ile143Phe) n.458A>T c.589A>T (p.Ile197Phe) c.556A>T (p.Ile186Phe) n.453A>T n.168+11460A>T n.410A>T c.148A>T (p.Ile50Phe) c.439A>T (p.Ile147Phe) c.372+5395A>T (n.372+5395A>T) | |
3 | g.136262019T>A | CA354739693 | PCCB | c.497T>A (p.Ile166Asn) c.248T>A (p.Ile83Asn) c.364T>A c.428T>A (p.Ile143Asn) n.459T>A c.590T>A (p.Ile197Asn) c.557T>A (p.Ile186Asn) n.454T>A n.168+11461T>A n.411T>A c.149T>A (p.Ile50Asn) c.440T>A (p.Ile147Asn) c.372+5396T>A (n.372+5396T>A) | |
3 | g.136262019T>C | CA354739694 | PCCB | c.497T>C (p.Ile166Thr) c.248T>C (p.Ile83Thr) c.364T>C c.428T>C (p.Ile143Thr) n.459T>C c.590T>C (p.Ile197Thr) c.557T>C (p.Ile186Thr) n.454T>C n.168+11461T>C n.411T>C c.149T>C (p.Ile50Thr) c.440T>C (p.Ile147Thr) c.372+5396T>C (n.372+5396T>C) | gnomAD v4 |
3 | g.136262019T>G | CA354739696 | PCCB | c.497T>G (p.Ile166Ser) c.248T>G (p.Ile83Ser) c.364T>G c.428T>G (p.Ile143Ser) n.459T>G c.590T>G (p.Ile197Ser) c.557T>G (p.Ile186Ser) n.454T>G n.168+11461T>G n.411T>G c.149T>G (p.Ile50Ser) c.440T>G (p.Ile147Ser) c.372+5396T>G (n.372+5396T>G) | |
3 | g.136262020C>A | CA435957474 | PCCB | c.498C>A (p.Ile166=) c.249C>A (p.Ile83=) c.365C>A c.429C>A (p.Ile143=) n.460C>A c.591C>A (p.Ile197=) c.558C>A (p.Ile186=) n.455C>A n.168+11462C>A n.412C>A c.150C>A (p.Ile50=) c.441C>A (p.Ile147=) c.372+5397C>A (n.372+5397C>A) | gnomAD v4 |
3 | g.136262020C>G | CA354739871 | PCCB | c.498C>G (p.Ile166Met) c.249C>G (p.Ile83Met) c.365C>G c.429C>G (p.Ile143Met) n.460C>G c.591C>G (p.Ile197Met) c.558C>G (p.Ile186Met) n.455C>G n.168+11462C>G n.412C>G c.150C>G (p.Ile50Met) c.441C>G (p.Ile147Met) c.372+5397C>G (n.372+5397C>G) | |
3 | g.136262020C>T | CA435957475 | PCCB | c.498C>T (p.Ile166=) c.249C>T (p.Ile83=) c.365C>T c.429C>T (p.Ile143=) n.460C>T c.591C>T (p.Ile197=) c.558C>T (p.Ile186=) n.455C>T n.168+11462C>T n.412C>T c.150C>T (p.Ile50=) c.441C>T (p.Ile147=) c.372+5397C>T (n.372+5397C>T) | |
3 | g.136262021C>A | CA354739873 | PCCB | c.499C>A (p.Gln167Lys) c.250C>A (p.Gln84Lys) c.366C>A c.430C>A (p.Gln144Lys) n.461C>A c.592C>A (p.Gln198Lys) c.559C>A (p.Gln187Lys) n.456C>A n.168+11463C>A n.413C>A c.151C>A (p.Gln51Lys) c.442C>A (p.Gln148Lys) c.372+5398C>A (n.372+5398C>A) | gnomAD v4 |
3 | g.136262021C>G | CA354739876 | PCCB | c.499C>G (p.Gln167Glu) c.250C>G (p.Gln84Glu) c.366C>G c.430C>G (p.Gln144Glu) n.461C>G c.592C>G (p.Gln198Glu) c.559C>G (p.Gln187Glu) n.456C>G n.168+11463C>G n.413C>G c.151C>G (p.Gln51Glu) c.442C>G (p.Gln148Glu) c.372+5398C>G (n.372+5398C>G) | gnomAD v4 |
3 | g.136262021C>T | CA354739875 | PCCB | c.499C>T (p.Gln167Ter) c.250C>T (p.Gln84Ter) c.366C>T c.430C>T (p.Gln144Ter) n.461C>T c.592C>T (p.Gln198Ter) c.559C>T (p.Gln187Ter) n.456C>T n.168+11463C>T n.413C>T c.151C>T (p.Gln51Ter) c.442C>T (p.Gln148Ter) c.372+5398C>T (n.372+5398C>T) | ClinVar gnomAD v4 |
3 | g.136262022A>C | CA354739878 | PCCB | c.500A>C (p.Gln167Pro) c.251A>C (p.Gln84Pro) c.367A>C c.431A>C (p.Gln144Pro) n.462A>C c.593A>C (p.Gln198Pro) c.560A>C (p.Gln187Pro) n.457A>C n.168+11464A>C n.414A>C c.152A>C (p.Gln51Pro) c.443A>C (p.Gln148Pro) c.372+5399A>C (n.372+5399A>C) | ClinVar |
3 | g.136262022A>G | CA354739879 | PCCB | c.500A>G (p.Gln167Arg) c.251A>G (p.Gln84Arg) c.367A>G c.431A>G (p.Gln144Arg) n.462A>G c.593A>G (p.Gln198Arg) c.560A>G (p.Gln187Arg) n.457A>G n.168+11464A>G n.414A>G c.152A>G (p.Gln51Arg) c.443A>G (p.Gln148Arg) c.372+5399A>G (n.372+5399A>G) | gnomAD v4 |
3 | g.136262022A>T | CA354739880 | PCCB | c.500A>T (p.Gln167Leu) c.251A>T (p.Gln84Leu) c.367A>T c.431A>T (p.Gln144Leu) n.462A>T c.593A>T (p.Gln198Leu) c.560A>T (p.Gln187Leu) n.457A>T n.168+11464A>T n.414A>T c.152A>T (p.Gln51Leu) c.443A>T (p.Gln148Leu) c.372+5399A>T (n.372+5399A>T) | |
3 | g.136262025_136262027del | CA2577911934 | PCCB | c.503_505del (p.Glu168del) c.254_256del (p.Glu85del) c.370_372del c.434_436del (p.Glu145del) n.465_467del c.596_598del (p.Glu199del) c.563_565del (p.Glu188del) n.460_462del n.168+11467_168+11469del n.417_419del c.155_157del (p.Glu52del) c.446_448del (p.Glu149del) c.372+5402_372+5404del (n.372+5402_372+5404del) | |
3 | g.136262023A= | CA1404287946 | PCCB | c.501A= (p.Gln167=) c.252A= (p.Gln84=) c.368A= c.432A= (p.Gln144=) n.463A= c.594A= (p.Gln198=) c.561A= (p.Gln187=) n.458A= n.168+11465A= n.415A= c.153A= (p.Gln51=) c.444A= (p.Gln148=) c.372+5400A= (n.372+5400A=) | |
3 | g.136262023A>C | CA354739882 | PCCB | c.501A>C (p.Gln167His) c.252A>C (p.Gln84His) c.368A>C c.432A>C (p.Gln144His) n.463A>C c.594A>C (p.Gln198His) c.561A>C (p.Gln187His) n.458A>C n.168+11465A>C n.415A>C c.153A>C (p.Gln51His) c.444A>C (p.Gln148His) c.372+5400A>C (n.372+5400A>C) | |
3 | g.136262023A>G | CA435957476 | PCCB | c.501A>G (p.Gln167=) c.252A>G (p.Gln84=) c.368A>G c.432A>G (p.Gln144=) n.463A>G c.594A>G (p.Gln198=) c.561A>G (p.Gln187=) n.458A>G n.168+11465A>G n.415A>G c.153A>G (p.Gln51=) c.444A>G (p.Gln148=) c.372+5400A>G (n.372+5400A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136262023A>T | CA354739884 | PCCB | c.501A>T (p.Gln167His) c.252A>T (p.Gln84His) c.368A>T c.432A>T (p.Gln144His) n.463A>T c.594A>T (p.Gln198His) c.561A>T (p.Gln187His) n.458A>T n.168+11465A>T n.415A>T c.153A>T (p.Gln51His) c.444A>T (p.Gln148His) c.372+5400A>T (n.372+5400A>T) | |
3 | g.136262024G>A | CA341173 | PCCB | c.502G>A (p.Glu168Lys) c.253G>A (p.Glu85Lys) c.369G>A c.433G>A (p.Glu145Lys) n.464G>A c.595G>A (p.Glu199Lys) c.562G>A (p.Glu188Lys) n.459G>A n.168+11466G>A n.416G>A c.154G>A (p.Glu52Lys) c.445G>A (p.Glu149Lys) c.372+5401G>A (n.372+5401G>A) c.253G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136262024G>C | CA354739886 | PCCB | c.502G>C (p.Glu168Gln) c.253G>C (p.Glu85Gln) c.369G>C c.433G>C (p.Glu145Gln) n.464G>C c.595G>C (p.Glu199Gln) c.562G>C (p.Glu188Gln) n.459G>C n.168+11466G>C n.416G>C c.154G>C (p.Glu52Gln) c.445G>C (p.Glu149Gln) c.372+5401G>C (n.372+5401G>C) c.253G>C | |
3 | g.136262024G= | CA1404287947 | PCCB | c.502G= (p.Glu168=) c.253G= (p.Glu85=) c.369G= c.433G= (p.Glu145=) n.464G= c.595G= (p.Glu199=) c.562G= (p.Glu188=) n.459G= n.168+11466G= n.416G= c.154G= (p.Glu52=) c.445G= (p.Glu149=) c.372+5401G= (n.372+5401G=) c.253G= | |
3 | g.136262024G>T | CA354739887 | PCCB | c.502G>T (p.Glu168Ter) c.253G>T (p.Glu85Ter) c.369G>T c.433G>T (p.Glu145Ter) n.464G>T c.595G>T (p.Glu199Ter) c.562G>T (p.Glu188Ter) n.459G>T n.168+11466G>T n.416G>T c.154G>T (p.Glu52Ter) c.445G>T (p.Glu149Ter) c.372+5401G>T (n.372+5401G>T) c.253G>T | gnomAD v4 |
3 | g.136262025A>C | CA354739889 | PCCB | c.503A>C (p.Glu168Ala) c.254A>C (p.Glu85Ala) c.370A>C c.434A>C (p.Glu145Ala) n.465A>C c.596A>C (p.Glu199Ala) c.563A>C (p.Glu188Ala) n.460A>C n.168+11467A>C n.417A>C c.155A>C (p.Glu52Ala) c.446A>C (p.Glu149Ala) c.372+5402A>C (n.372+5402A>C) c.254A>C | |
3 | g.136262025A>G | CA354739890 | PCCB | c.503A>G (p.Glu168Gly) c.254A>G (p.Glu85Gly) c.370A>G c.434A>G (p.Glu145Gly) n.465A>G c.596A>G (p.Glu199Gly) c.563A>G (p.Glu188Gly) n.460A>G n.168+11467A>G n.417A>G c.155A>G (p.Glu52Gly) c.446A>G (p.Glu149Gly) c.372+5402A>G (n.372+5402A>G) c.254A>G | |
3 | g.136262025A>T | CA354739891 | PCCB | c.503A>T (p.Glu168Val) c.254A>T (p.Glu85Val) c.370A>T c.434A>T (p.Glu145Val) n.465A>T c.596A>T (p.Glu199Val) c.563A>T (p.Glu188Val) n.460A>T n.168+11467A>T n.417A>T c.155A>T (p.Glu52Val) c.446A>T (p.Glu149Val) c.372+5402A>T (n.372+5402A>T) c.254A>T | |
3 | g.136262026A>C | CA354739893 | PCCB | c.504A>C (p.Glu168Asp) c.255A>C (p.Glu85Asp) c.371A>C c.435A>C (p.Glu145Asp) n.466A>C c.597A>C (p.Glu199Asp) c.564A>C (p.Glu188Asp) n.461A>C n.168+11468A>C n.418A>C c.156A>C (p.Glu52Asp) c.447A>C (p.Glu149Asp) c.372+5403A>C (n.372+5403A>C) | |
3 | g.136262026A>G | CA435957477 | PCCB | c.504A>G (p.Glu168=) c.255A>G (p.Glu85=) c.371A>G c.435A>G (p.Glu145=) n.466A>G c.597A>G (p.Glu199=) c.564A>G (p.Glu188=) n.461A>G n.168+11468A>G n.418A>G c.156A>G (p.Glu52=) c.447A>G (p.Glu149=) c.372+5403A>G (n.372+5403A>G) | dbSNP |
3 | g.136262026A>T | CA354739894 | PCCB | c.504A>T (p.Glu168Asp) c.255A>T (p.Glu85Asp) c.371A>T c.435A>T (p.Glu145Asp) n.466A>T c.597A>T (p.Glu199Asp) c.564A>T (p.Glu188Asp) n.461A>T n.168+11468A>T n.418A>T c.156A>T (p.Glu52Asp) c.447A>T (p.Glu149Asp) c.372+5403A>T (n.372+5403A>T) | |
3 | g.136262027G>A | CA354739899 | PCCB | c.505G>A (p.Gly169Arg) c.256G>A (p.Gly86Arg) c.372G>A c.436G>A (p.Gly146Arg) n.467G>A c.598G>A (p.Gly200Arg) c.565G>A (p.Gly189Arg) n.462G>A n.168+11469G>A n.419G>A c.157G>A (p.Gly53Arg) c.448G>A (p.Gly150Arg) c.372+5404G>A (n.372+5404G>A) | |
3 | g.136262027G>C | CA354739895 | PCCB | c.505G>C (p.Gly169Arg) c.256G>C (p.Gly86Arg) c.372G>C c.436G>C (p.Gly146Arg) n.467G>C c.598G>C (p.Gly200Arg) c.565G>C (p.Gly189Arg) n.462G>C n.168+11469G>C n.419G>C c.157G>C (p.Gly53Arg) c.448G>C (p.Gly150Arg) c.372+5404G>C (n.372+5404G>C) | |
3 | g.136262027G= | CA1404287948 | PCCB | c.505G= (p.Gly169=) c.256G= (p.Gly86=) c.372G= c.436G= (p.Gly146=) n.467G= c.598G= (p.Gly200=) c.565G= (p.Gly189=) n.462G= n.168+11469G= n.419G= c.157G= (p.Gly53=) c.448G= (p.Gly150=) c.372+5404G= (n.372+5404G=) | |
3 | g.136262027G>T | CA354739897 | PCCB | c.505G>T (p.Gly169Ter) c.256G>T (p.Gly86Ter) c.372G>T c.436G>T (p.Gly146Ter) n.467G>T c.598G>T (p.Gly200Ter) c.565G>T (p.Gly189Ter) n.462G>T n.168+11469G>T n.419G>T c.157G>T (p.Gly53Ter) c.448G>T (p.Gly150Ter) c.372+5404G>T (n.372+5404G>T) | ClinVar dbSNP |
3 | g.136262028G>A | CA354739900 | PCCB | c.506G>A (p.Gly169Glu) c.257G>A (p.Gly86Glu) c.373G>A c.437G>A (p.Gly146Glu) n.468G>A c.599G>A (p.Gly200Glu) c.566G>A (p.Gly189Glu) n.463G>A n.168+11470G>A n.420G>A c.158G>A (p.Gly53Glu) c.449G>A (p.Gly150Glu) c.372+5405G>A (n.372+5405G>A) | |
3 | g.136262028G>C | CA354739901 | PCCB | c.506G>C (p.Gly169Ala) c.257G>C (p.Gly86Ala) c.373G>C c.437G>C (p.Gly146Ala) n.468G>C c.599G>C (p.Gly200Ala) c.566G>C (p.Gly189Ala) n.463G>C n.168+11470G>C n.420G>C c.158G>C (p.Gly53Ala) c.449G>C (p.Gly150Ala) c.372+5405G>C (n.372+5405G>C) | gnomAD v4 |
3 | g.136262028G>T | CA354739902 | PCCB | c.506G>T (p.Gly169Val) c.257G>T (p.Gly86Val) c.373G>T c.437G>T (p.Gly146Val) n.468G>T c.599G>T (p.Gly200Val) c.566G>T (p.Gly189Val) n.463G>T n.168+11470G>T n.420G>T c.158G>T (p.Gly53Val) c.449G>T (p.Gly150Val) c.372+5405G>T (n.372+5405G>T) | gnomAD v4 |
3 | g.136262029A= | CA1404287949 | PCCB | c.507A= (p.Gly169=) c.258A= (p.Gly86=) c.374A= c.438A= (p.Gly146=) n.469A= c.600A= (p.Gly200=) c.567A= (p.Gly189=) n.464A= n.168+11471A= n.421A= c.159A= (p.Gly53=) c.450A= (p.Gly150=) c.372+5406A= (n.372+5406A=) | |
3 | g.136262029A>C | CA435957478 | PCCB | c.507A>C (p.Gly169=) c.258A>C (p.Gly86=) c.374A>C c.438A>C (p.Gly146=) n.469A>C c.600A>C (p.Gly200=) c.567A>C (p.Gly189=) n.464A>C n.168+11471A>C n.421A>C c.159A>C (p.Gly53=) c.450A>C (p.Gly150=) c.372+5406A>C (n.372+5406A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136262029A>G | CA435957479 | PCCB | c.507A>G (p.Gly169=) c.258A>G (p.Gly86=) c.374A>G c.438A>G (p.Gly146=) n.469A>G c.600A>G (p.Gly200=) c.567A>G (p.Gly189=) n.464A>G n.168+11471A>G n.421A>G c.159A>G (p.Gly53=) c.450A>G (p.Gly150=) c.372+5406A>G (n.372+5406A>G) | |
3 | g.136262029A>T | CA435957480 | PCCB | c.507A>T (p.Gly169=) c.258A>T (p.Gly86=) c.374A>T c.438A>T (p.Gly146=) n.469A>T c.600A>T (p.Gly200=) c.567A>T (p.Gly189=) n.464A>T n.168+11471A>T n.421A>T c.159A>T (p.Gly53=) c.450A>T (p.Gly150=) c.372+5406A>T (n.372+5406A>T) | gnomAD v4 |
3 | g.136262030G>A | CA354739903 | PCCB | c.508G>A (p.Val170Met) c.259G>A (p.Val87Met) c.375G>A c.439G>A (p.Val147Met) n.470G>A c.601G>A (p.Val201Met) c.568G>A (p.Val190Met) n.465G>A n.168+11472G>A n.422G>A c.160G>A (p.Val54Met) c.451G>A (p.Val151Met) c.372+5407G>A (n.372+5407G>A) | gnomAD v4 |
3 | g.136262030G>C | CA354739905 | PCCB | c.508G>C (p.Val170Leu) c.259G>C (p.Val87Leu) c.375G>C c.439G>C (p.Val147Leu) n.470G>C c.601G>C (p.Val201Leu) c.568G>C (p.Val190Leu) n.465G>C n.168+11472G>C n.422G>C c.160G>C (p.Val54Leu) c.451G>C (p.Val151Leu) c.372+5407G>C (n.372+5407G>C) | |
3 | g.136262030G>T | CA354739906 | PCCB | c.508G>T (p.Val170Leu) c.259G>T (p.Val87Leu) c.375G>T c.439G>T (p.Val147Leu) n.470G>T c.601G>T (p.Val201Leu) c.568G>T (p.Val190Leu) n.465G>T n.168+11472G>T n.422G>T c.160G>T (p.Val54Leu) c.451G>T (p.Val151Leu) c.372+5407G>T (n.372+5407G>T) | gnomAD v4 |
3 | g.136262031T>A | CA354739908 | PCCB | c.509T>A (p.Val170Glu) c.260T>A (p.Val87Glu) c.376T>A c.440T>A (p.Val147Glu) n.471T>A c.602T>A (p.Val201Glu) c.569T>A (p.Val190Glu) n.466T>A n.168+11473T>A n.423T>A c.161T>A (p.Val54Glu) c.452T>A (p.Val151Glu) c.372+5408T>A (n.372+5408T>A) | gnomAD v4 |
3 | g.136262031T>C | CA354739909 | PCCB | c.509T>C (p.Val170Ala) c.260T>C (p.Val87Ala) c.376T>C c.440T>C (p.Val147Ala) n.471T>C c.602T>C (p.Val201Ala) c.569T>C (p.Val190Ala) n.466T>C n.168+11473T>C n.423T>C c.161T>C (p.Val54Ala) c.452T>C (p.Val151Ala) c.372+5408T>C (n.372+5408T>C) | gnomAD v4 |
3 | g.136262031T>G | CA354739910 | PCCB | c.509T>G (p.Val170Gly) c.260T>G (p.Val87Gly) c.376T>G c.440T>G (p.Val147Gly) n.471T>G c.602T>G (p.Val201Gly) c.569T>G (p.Val190Gly) n.466T>G n.168+11473T>G n.423T>G c.161T>G (p.Val54Gly) c.452T>G (p.Val151Gly) c.372+5408T>G (n.372+5408T>G) | |
3 | g.136262032G>A | CA435957481 | PCCB | c.510G>A (p.Val170=) c.261G>A (p.Val87=) c.377G>A c.441G>A (p.Val147=) n.472G>A c.603G>A (p.Val201=) c.570G>A (p.Val190=) n.467G>A n.168+11474G>A n.424G>A c.162G>A (p.Val54=) c.453G>A (p.Val151=) c.372+5409G>A (n.372+5409G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136262032G>C | CA435957483 | PCCB | c.510G>C (p.Val170=) c.261G>C (p.Val87=) c.377G>C c.441G>C (p.Val147=) n.472G>C c.603G>C (p.Val201=) c.570G>C (p.Val190=) n.467G>C n.168+11474G>C n.424G>C c.162G>C (p.Val54=) c.453G>C (p.Val151=) c.372+5409G>C (n.372+5409G>C) | gnomAD v4 |
3 | g.136262032G= | CA1404287950 | PCCB | c.510G= (p.Val170=) c.261G= (p.Val87=) c.377G= c.441G= (p.Val147=) n.472G= c.603G= (p.Val201=) c.570G= (p.Val190=) n.467G= n.168+11474G= n.424G= c.162G= (p.Val54=) c.453G= (p.Val151=) c.372+5409G= (n.372+5409G=) | |
3 | g.136262032G>T | CA435957482 | PCCB | c.510G>T (p.Val170=) c.261G>T (p.Val87=) c.377G>T c.441G>T (p.Val147=) n.472G>T c.603G>T (p.Val201=) c.570G>T (p.Val190=) n.467G>T n.168+11474G>T n.424G>T c.162G>T (p.Val54=) c.453G>T (p.Val151=) c.372+5409G>T (n.372+5409G>T) | gnomAD v4 |
3 | g.136262033del | CA2667839513 | PCCB | c.511del (p.Glu171SerfsTer11) c.262del (p.Glu88SerfsTer11) c.378del c.442del (p.Glu148SerfsTer11) n.473del c.604del (p.Glu202SerfsTer11) c.571del (p.Glu191SerfsTer11) n.468del n.168+11475del n.425del c.163del (p.Glu55SerfsTer11) c.454del (p.Glu152SerfsTer11) c.372+5410del (n.372+5410del) | gnomAD v4 |
3 | g.136262033G>A | CA354739912 | PCCB | c.511G>A (p.Glu171Lys) c.262G>A (p.Glu88Lys) c.378G>A c.442G>A (p.Glu148Lys) n.473G>A c.604G>A (p.Glu202Lys) c.571G>A (p.Glu191Lys) n.468G>A n.168+11475G>A n.425G>A c.163G>A (p.Glu55Lys) c.454G>A (p.Glu152Lys) c.372+5410G>A (n.372+5410G>A) | gnomAD v4 |
3 | g.136262033G>C | CA354739913 | PCCB | c.511G>C (p.Glu171Gln) c.262G>C (p.Glu88Gln) c.378G>C c.442G>C (p.Glu148Gln) n.473G>C c.604G>C (p.Glu202Gln) c.571G>C (p.Glu191Gln) n.468G>C n.168+11475G>C n.425G>C c.163G>C (p.Glu55Gln) c.454G>C (p.Glu152Gln) c.372+5410G>C (n.372+5410G>C) | |
3 | g.136262033G>T | CA354739914 | PCCB | c.511G>T (p.Glu171Ter) c.262G>T (p.Glu88Ter) c.378G>T c.442G>T (p.Glu148Ter) n.473G>T c.604G>T (p.Glu202Ter) c.571G>T (p.Glu191Ter) n.468G>T n.168+11475G>T n.425G>T c.163G>T (p.Glu55Ter) c.454G>T (p.Glu152Ter) c.372+5410G>T (n.372+5410G>T) | gnomAD v4 |
3 | g.136262034A>C | CA354739918 | PCCB | c.512A>C (p.Glu171Ala) c.263A>C (p.Glu88Ala) c.379A>C c.443A>C (p.Glu148Ala) n.474A>C c.605A>C (p.Glu202Ala) c.572A>C (p.Glu191Ala) n.469A>C n.168+11476A>C n.426A>C c.164A>C (p.Glu55Ala) c.455A>C (p.Glu152Ala) c.372+5411A>C (n.372+5411A>C) | |
3 | g.136262034A>G | CA354739916 | PCCB | c.512A>G (p.Glu171Gly) c.263A>G (p.Glu88Gly) c.379A>G c.443A>G (p.Glu148Gly) n.474A>G c.605A>G (p.Glu202Gly) c.572A>G (p.Glu191Gly) n.469A>G n.168+11476A>G n.426A>G c.164A>G (p.Glu55Gly) c.455A>G (p.Glu152Gly) c.372+5411A>G (n.372+5411A>G) | |
3 | g.136262034A>T | CA354739917 | PCCB | c.512A>T (p.Glu171Val) c.263A>T (p.Glu88Val) c.379A>T c.443A>T (p.Glu148Val) n.474A>T c.605A>T (p.Glu202Val) c.572A>T (p.Glu191Val) n.469A>T n.168+11476A>T n.426A>T c.164A>T (p.Glu55Val) c.455A>T (p.Glu152Val) c.372+5411A>T (n.372+5411A>T) | |
3 | g.136262035G>A | CA435957484 | PCCB | c.513G>A (p.Glu171=) c.264G>A (p.Glu88=) c.380G>A c.444G>A (p.Glu148=) n.475G>A c.606G>A (p.Glu202=) c.573G>A (p.Glu191=) n.470G>A n.168+11477G>A n.427G>A c.165G>A (p.Glu55=) c.456G>A (p.Glu152=) c.372+5412G>A (n.372+5412G>A) | |
3 | g.136262035G>C | CA354739920 | PCCB | c.513G>C (p.Glu171Asp) c.264G>C (p.Glu88Asp) c.380G>C c.444G>C (p.Glu148Asp) n.475G>C c.606G>C (p.Glu202Asp) c.573G>C (p.Glu191Asp) n.470G>C n.168+11477G>C n.427G>C c.165G>C (p.Glu55Asp) c.456G>C (p.Glu152Asp) c.372+5412G>C (n.372+5412G>C) | ClinVar dbSNP gnomAD v4 |
3 | g.136262035G= | CA1404287951 | PCCB | c.513G= (p.Glu171=) c.264G= (p.Glu88=) c.380G= c.444G= (p.Glu148=) n.475G= c.606G= (p.Glu202=) c.573G= (p.Glu191=) n.470G= n.168+11477G= n.427G= c.165G= (p.Glu55=) c.456G= (p.Glu152=) c.372+5412G= (n.372+5412G=) | |
3 | g.136262035G>T | CA354739921 | PCCB | c.513G>T (p.Glu171Asp) c.264G>T (p.Glu88Asp) c.380G>T c.444G>T (p.Glu148Asp) n.475G>T c.606G>T (p.Glu202Asp) c.573G>T (p.Glu191Asp) n.470G>T n.168+11477G>T n.427G>T c.165G>T (p.Glu55Asp) c.456G>T (p.Glu152Asp) c.372+5412G>T (n.372+5412G>T) | |
3 | g.136262036T>A | CA354739922 | PCCB | c.514T>A (p.Ser172Thr) c.265T>A (p.Ser89Thr) c.381T>A c.445T>A (p.Ser149Thr) n.476T>A c.607T>A (p.Ser203Thr) c.574T>A (p.Ser192Thr) n.471T>A n.168+11478T>A n.428T>A c.166T>A (p.Ser56Thr) c.457T>A (p.Ser153Thr) c.372+5413T>A (n.372+5413T>A) | gnomAD v4 |
3 | g.136262036T>C | CA354739923 | PCCB | c.514T>C (p.Ser172Pro) c.265T>C (p.Ser89Pro) c.381T>C c.445T>C (p.Ser149Pro) n.476T>C c.607T>C (p.Ser203Pro) c.574T>C (p.Ser192Pro) n.471T>C n.168+11478T>C n.428T>C c.166T>C (p.Ser56Pro) c.457T>C (p.Ser153Pro) c.372+5413T>C (n.372+5413T>C) | |
3 | g.136262036T>G | CA354739924 | PCCB | c.514T>G (p.Ser172Ala) c.265T>G (p.Ser89Ala) c.381T>G c.445T>G (p.Ser149Ala) n.476T>G c.607T>G (p.Ser203Ala) c.574T>G (p.Ser192Ala) n.471T>G n.168+11478T>G n.428T>G c.166T>G (p.Ser56Ala) c.457T>G (p.Ser153Ala) c.372+5413T>G (n.372+5413T>G) | gnomAD v4 |
3 | g.136262037_136262039del | CA913102132 | PCCB | c.515_517del (p.Ser172del) c.266_268del (p.Ser89del) c.382_384del c.446_448del (p.Ser149del) n.477_479del c.608_610del (p.Ser203del) c.575_577del (p.Ser192del) n.472_474del n.168+11479_168+11481del n.429_431del c.167_169del (p.Ser56del) c.458_460del (p.Ser153del) c.372+5414_372+5416del (n.372+5414_372+5416del) | |
3 | g.136262037C>A | CA354739926 | PCCB | c.515C>A (p.Ser172Tyr) c.266C>A (p.Ser89Tyr) c.382C>A c.446C>A (p.Ser149Tyr) n.477C>A c.608C>A (p.Ser203Tyr) c.575C>A (p.Ser192Tyr) n.472C>A n.168+11479C>A n.429C>A c.167C>A (p.Ser56Tyr) c.458C>A (p.Ser153Tyr) c.372+5414C>A (n.372+5414C>A) | gnomAD v4 |
3 | g.136262037C>G | CA354739927 | PCCB | c.515C>G (p.Ser172Cys) c.266C>G (p.Ser89Cys) c.382C>G c.446C>G (p.Ser149Cys) n.477C>G c.608C>G (p.Ser203Cys) c.575C>G (p.Ser192Cys) n.472C>G n.168+11479C>G n.429C>G c.167C>G (p.Ser56Cys) c.458C>G (p.Ser153Cys) c.372+5414C>G (n.372+5414C>G) | gnomAD v4 |
3 | g.136262037C>T | CA354739929 | PCCB | c.515C>T (p.Ser172Phe) c.266C>T (p.Ser89Phe) c.382C>T c.446C>T (p.Ser149Phe) n.477C>T c.608C>T (p.Ser203Phe) c.575C>T (p.Ser192Phe) n.472C>T n.168+11479C>T n.429C>T c.167C>T (p.Ser56Phe) c.458C>T (p.Ser153Phe) c.372+5414C>T (n.372+5414C>T) | |
3 | g.136262037_136262039delinsCTT | CA1404287952 | PCCB | c.515_517delinsCTT (p.Ser172=) c.266_268delinsCTT (p.Ser89=) c.382_384delinsCTT c.446_448delinsCTT (p.Ser149=) n.477_479delinsCTT c.608_610delinsCTT (p.Ser203=) c.575_577delinsCTT (p.Ser192=) n.472_474delinsCTT n.168+11479_168+11481delinsCTT n.429_431delinsCTT c.167_169delinsCTT (p.Ser56=) c.458_460delinsCTT (p.Ser153=) c.372+5414_372+5416delinsCTT (n.372+5414_372+5416delinsCTT) | |
3 | g.136262038T>A | CA435957485 | PCCB | c.516T>A (p.Ser172=) c.267T>A (p.Ser89=) c.383T>A c.447T>A (p.Ser149=) n.478T>A c.609T>A (p.Ser203=) c.576T>A (p.Ser192=) n.473T>A n.168+11480T>A n.430T>A c.168T>A (p.Ser56=) c.459T>A (p.Ser153=) c.372+5415T>A (n.372+5415T>A) | |
3 | g.136262038T>C | CA435957486 | PCCB | c.516T>C (p.Ser172=) c.267T>C (p.Ser89=) c.383T>C c.447T>C (p.Ser149=) n.478T>C c.609T>C (p.Ser203=) c.576T>C (p.Ser192=) n.473T>C n.168+11480T>C n.430T>C c.168T>C (p.Ser56=) c.459T>C (p.Ser153=) c.372+5415T>C (n.372+5415T>C) | |
3 | g.136262038T>G | CA435957487 | PCCB | c.516T>G (p.Ser172=) c.267T>G (p.Ser89=) c.383T>G c.447T>G (p.Ser149=) n.478T>G c.609T>G (p.Ser203=) c.576T>G (p.Ser192=) n.473T>G n.168+11480T>G n.430T>G c.168T>G (p.Ser56=) c.459T>G (p.Ser153=) c.372+5415T>G (n.372+5415T>G) | |
3 | g.136262039_136262040del | CA2631760 | PCCB | c.517_518del (p.Leu173GlyfsTer?) c.268_269del (p.Leu90GlyfsTer?) c.384_385del c.448_449del (p.Leu150GlyfsTer?) n.479_480del c.610_611del (p.Leu204GlyfsTer?) c.577_578del (p.Leu193GlyfsTer?) n.474_475del n.168+11481_168+11482del n.431_432del c.169_170del (p.Leu57GlyfsTer?) c.460_461del (p.Leu154GlyfsTer?) c.372+5416_372+5417del (n.372+5416_372+5417del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.136262039T>A | CA354739931 | PCCB | c.517T>A (p.Leu173Met) c.268T>A (p.Leu90Met) c.384T>A c.448T>A (p.Leu150Met) n.479T>A c.610T>A (p.Leu204Met) c.577T>A (p.Leu193Met) n.474T>A n.168+11481T>A n.431T>A c.169T>A (p.Leu57Met) c.460T>A (p.Leu154Met) c.372+5416T>A (n.372+5416T>A) | |
3 | g.136262039T>C | CA435957488 | PCCB | c.517T>C (p.Leu173=) c.268T>C (p.Leu90=) c.384T>C c.448T>C (p.Leu150=) n.479T>C c.610T>C (p.Leu204=) c.577T>C (p.Leu193=) n.474T>C n.168+11481T>C n.431T>C c.169T>C (p.Leu57=) c.460T>C (p.Leu154=) c.372+5416T>C (n.372+5416T>C) | gnomAD v4 |
3 | g.136262039T>G | CA354739933 | PCCB | c.517T>G (p.Leu173Val) c.268T>G (p.Leu90Val) c.384T>G c.448T>G (p.Leu150Val) n.479T>G c.610T>G (p.Leu204Val) c.577T>G (p.Leu193Val) n.474T>G n.168+11481T>G n.431T>G c.169T>G (p.Leu57Val) c.460T>G (p.Leu154Val) c.372+5416T>G (n.372+5416T>G) | |
3 | g.136262040T>A | CA354739934 | PCCB | c.518T>A (p.Leu173Ter) c.269T>A (p.Leu90Ter) c.385T>A c.449T>A (p.Leu150Ter) n.480T>A c.611T>A (p.Leu204Ter) c.578T>A (p.Leu193Ter) n.475T>A n.168+11482T>A n.432T>A c.170T>A (p.Leu57Ter) c.461T>A (p.Leu154Ter) c.372+5417T>A (n.372+5417T>A) | |
3 | g.136262040T>C | CA354739935 | PCCB | c.518T>C (p.Leu173Ser) c.269T>C (p.Leu90Ser) c.385T>C c.449T>C (p.Leu150Ser) n.480T>C c.611T>C (p.Leu204Ser) c.578T>C (p.Leu193Ser) n.475T>C n.168+11482T>C n.432T>C c.170T>C (p.Leu57Ser) c.461T>C (p.Leu154Ser) c.372+5417T>C (n.372+5417T>C) | |
3 | g.136262040T>G | CA354739937 | PCCB | c.518T>G (p.Leu173Trp) c.269T>G (p.Leu90Trp) c.385T>G c.449T>G (p.Leu150Trp) n.480T>G c.611T>G (p.Leu204Trp) c.578T>G (p.Leu193Trp) n.475T>G n.168+11482T>G n.432T>G c.170T>G (p.Leu57Trp) c.461T>G (p.Leu154Trp) c.372+5417T>G (n.372+5417T>G) | |
3 | g.136262040_136262065del | CA2573052088 | PCCB | c.518_543del (p.Leu173Ter) c.269_294del (p.Leu90Ter) c.385_410del c.449_474del (p.Leu150Ter) n.480_505del c.611_636del (p.Leu204Ter) c.578_603del (p.Leu193Ter) n.475_500del n.168+11482_168+11507del n.432_457del c.170_195del (p.Leu57Ter) c.461_486del (p.Leu154Ter) c.372+5417_372+5442del (n.372+5417_372+5442del) | ClinVar dbSNP |
3 | g.136262041G>A | CA435957489 | PCCB | c.519G>A (p.Leu173=) c.270G>A (p.Leu90=) c.386G>A c.450G>A (p.Leu150=) n.481G>A c.612G>A (p.Leu204=) c.579G>A (p.Leu193=) n.476G>A n.168+11483G>A n.433G>A c.171G>A (p.Leu57=) c.462G>A (p.Leu154=) c.372+5418G>A (n.372+5418G>A) | ClinVar dbSNP |
3 | g.136262041G>C | CA354739940 | PCCB | c.519G>C (p.Leu173Phe) c.270G>C (p.Leu90Phe) c.386G>C c.450G>C (p.Leu150Phe) n.481G>C c.612G>C (p.Leu204Phe) c.579G>C (p.Leu193Phe) n.476G>C n.168+11483G>C n.433G>C c.171G>C (p.Leu57Phe) c.462G>C (p.Leu154Phe) c.372+5418G>C (n.372+5418G>C) | |
3 | g.136262041G>T | CA354739938 | PCCB | c.519G>T (p.Leu173Phe) c.270G>T (p.Leu90Phe) c.386G>T c.450G>T (p.Leu150Phe) n.481G>T c.612G>T (p.Leu204Phe) c.579G>T (p.Leu193Phe) n.476G>T n.168+11483G>T n.433G>T c.171G>T (p.Leu57Phe) c.462G>T (p.Leu154Phe) c.372+5418G>T (n.372+5418G>T) | gnomAD v4 |
3 | g.136262042G>A | CA354739941 | PCCB | c.520G>A (p.Ala174Thr) c.271G>A (p.Ala91Thr) c.387G>A c.451G>A (p.Ala151Thr) n.482G>A c.613G>A (p.Ala205Thr) c.580G>A (p.Ala194Thr) n.477G>A n.168+11484G>A n.434G>A c.172G>A (p.Ala58Thr) c.463G>A (p.Ala155Thr) c.372+5419G>A (n.372+5419G>A) | |
3 | g.136262042G>C | CA354739943 | PCCB | c.520G>C (p.Ala174Pro) c.271G>C (p.Ala91Pro) c.387G>C c.451G>C (p.Ala151Pro) n.482G>C c.613G>C (p.Ala205Pro) c.580G>C (p.Ala194Pro) n.477G>C n.168+11484G>C n.434G>C c.172G>C (p.Ala58Pro) c.463G>C (p.Ala155Pro) c.372+5419G>C (n.372+5419G>C) | |
3 | g.136262042G= | CA1404287953 | PCCB | c.520G= (p.Ala174=) c.271G= (p.Ala91=) c.387G= c.451G= (p.Ala151=) n.482G= c.613G= (p.Ala205=) c.580G= (p.Ala194=) n.477G= n.168+11484G= n.434G= c.172G= (p.Ala58=) c.463G= (p.Ala155=) c.372+5419G= (n.372+5419G=) | |
3 | g.136262042G>T | CA354739944 | PCCB | c.520G>T (p.Ala174Ser) c.271G>T (p.Ala91Ser) c.387G>T c.451G>T (p.Ala151Ser) n.482G>T c.613G>T (p.Ala205Ser) c.580G>T (p.Ala194Ser) n.477G>T n.168+11484G>T n.434G>T c.172G>T (p.Ala58Ser) c.463G>T (p.Ala155Ser) c.372+5419G>T (n.372+5419G>T) | dbSNP gnomAD v4 |
3 | g.136262043del | CA2667839514 | PCCB | c.521del (p.Ala174ValfsTer8) c.272del (p.Ala91ValfsTer8) c.388del c.452del (p.Ala151ValfsTer8) n.483del c.614del (p.Ala205ValfsTer8) c.581del (p.Ala194ValfsTer8) n.478del n.168+11485del n.435del c.173del (p.Ala58ValfsTer8) c.464del (p.Ala155ValfsTer8) c.372+5420del (n.372+5420del) | gnomAD v4 |
3 | g.136262043C>A | CA354739946 | PCCB | c.521C>A (p.Ala174Asp) c.272C>A (p.Ala91Asp) c.388C>A c.452C>A (p.Ala151Asp) n.483C>A c.614C>A (p.Ala205Asp) c.581C>A (p.Ala194Asp) n.478C>A n.168+11485C>A n.435C>A c.173C>A (p.Ala58Asp) c.464C>A (p.Ala155Asp) c.372+5420C>A (n.372+5420C>A) | gnomAD v4 |
3 | g.136262043C>G | CA354739947 | PCCB | c.521C>G (p.Ala174Gly) c.272C>G (p.Ala91Gly) c.388C>G c.452C>G (p.Ala151Gly) n.483C>G c.614C>G (p.Ala205Gly) c.581C>G (p.Ala194Gly) n.478C>G n.168+11485C>G n.435C>G c.173C>G (p.Ala58Gly) c.464C>G (p.Ala155Gly) c.372+5420C>G (n.372+5420C>G) | |
3 | g.136262043C>T | CA354739949 | PCCB | c.521C>T (p.Ala174Val) c.272C>T (p.Ala91Val) c.388C>T c.452C>T (p.Ala151Val) n.483C>T c.614C>T (p.Ala205Val) c.581C>T (p.Ala194Val) n.478C>T n.168+11485C>T n.435C>T c.173C>T (p.Ala58Val) c.464C>T (p.Ala155Val) c.372+5420C>T (n.372+5420C>T) | gnomAD v4 |
3 | g.136262044T>A | CA435957490 | PCCB | c.522T>A (p.Ala174=) c.273T>A (p.Ala91=) c.389T>A c.453T>A (p.Ala151=) n.484T>A c.615T>A (p.Ala205=) c.582T>A (p.Ala194=) n.479T>A n.168+11486T>A n.436T>A c.174T>A (p.Ala58=) c.465T>A (p.Ala155=) c.372+5421T>A (n.372+5421T>A) | gnomAD v4 |
3 | g.136262044T>C | CA435957491 | PCCB | c.522T>C (p.Ala174=) c.273T>C (p.Ala91=) c.389T>C c.453T>C (p.Ala151=) n.484T>C c.615T>C (p.Ala205=) c.582T>C (p.Ala194=) n.479T>C n.168+11486T>C n.436T>C c.174T>C (p.Ala58=) c.465T>C (p.Ala155=) c.372+5421T>C (n.372+5421T>C) | |
3 | g.136262044T>G | CA435957492 | PCCB | c.522T>G (p.Ala174=) c.273T>G (p.Ala91=) c.389T>G c.453T>G (p.Ala151=) n.484T>G c.615T>G (p.Ala205=) c.582T>G (p.Ala194=) n.479T>G n.168+11486T>G n.436T>G c.174T>G (p.Ala58=) c.465T>G (p.Ala155=) c.372+5421T>G (n.372+5421T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136262044T= | CA1404287954 | PCCB | c.522T= (p.Ala174=) c.273T= (p.Ala91=) c.389T= c.453T= (p.Ala151=) n.484T= c.615T= (p.Ala205=) c.582T= (p.Ala194=) n.479T= n.168+11486T= n.436T= c.174T= (p.Ala58=) c.465T= (p.Ala155=) c.372+5421T= (n.372+5421T=) | |
3 | g.136262045G>A | CA354739951 | PCCB | c.523G>A (p.Gly175Ser) c.274G>A (p.Gly92Ser) c.390G>A c.454G>A (p.Gly152Ser) n.485G>A c.616G>A (p.Gly206Ser) c.583G>A (p.Gly195Ser) n.480G>A n.168+11487G>A n.437G>A c.175G>A (p.Gly59Ser) c.466G>A (p.Gly156Ser) c.372+5422G>A (n.372+5422G>A) | gnomAD v4 |
3 | g.136262045G>C | CA354739952 | PCCB | c.523G>C (p.Gly175Arg) c.274G>C (p.Gly92Arg) c.390G>C c.454G>C (p.Gly152Arg) n.485G>C c.616G>C (p.Gly206Arg) c.583G>C (p.Gly195Arg) n.480G>C n.168+11487G>C n.437G>C c.175G>C (p.Gly59Arg) c.466G>C (p.Gly156Arg) c.372+5422G>C (n.372+5422G>C) | |
3 | g.136262045G>T | CA354739955 | PCCB | c.523G>T (p.Gly175Cys) c.274G>T (p.Gly92Cys) c.390G>T c.454G>T (p.Gly152Cys) n.485G>T c.616G>T (p.Gly206Cys) c.583G>T (p.Gly195Cys) n.480G>T n.168+11487G>T n.437G>T c.175G>T (p.Gly59Cys) c.466G>T (p.Gly156Cys) c.372+5422G>T (n.372+5422G>T) | |
3 | g.136262046G>A | CA354739958 | PCCB | c.524G>A (p.Gly175Asp) c.275G>A (p.Gly92Asp) c.391G>A c.455G>A (p.Gly152Asp) n.486G>A c.617G>A (p.Gly206Asp) c.584G>A (p.Gly195Asp) n.481G>A n.168+11488G>A n.438G>A c.176G>A (p.Gly59Asp) c.467G>A (p.Gly156Asp) c.372+5423G>A (n.372+5423G>A) | gnomAD v4 |
3 | g.136262046G>C | CA354739959 | PCCB | c.524G>C (p.Gly175Ala) c.275G>C (p.Gly92Ala) c.391G>C c.455G>C (p.Gly152Ala) n.486G>C c.617G>C (p.Gly206Ala) c.584G>C (p.Gly195Ala) n.481G>C n.168+11488G>C n.438G>C c.176G>C (p.Gly59Ala) c.467G>C (p.Gly156Ala) c.372+5423G>C (n.372+5423G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136262046G= | CA1404287955 | PCCB | c.524G= (p.Gly175=) c.275G= (p.Gly92=) c.391G= c.455G= (p.Gly152=) n.486G= c.617G= (p.Gly206=) c.584G= (p.Gly195=) n.481G= n.168+11488G= n.438G= c.176G= (p.Gly59=) c.467G= (p.Gly156=) c.372+5423G= (n.372+5423G=) | |
3 | g.136262046G>T | CA354739961 | PCCB | c.524G>T (p.Gly175Val) c.275G>T (p.Gly92Val) c.391G>T c.455G>T (p.Gly152Val) n.486G>T c.617G>T (p.Gly206Val) c.584G>T (p.Gly195Val) n.481G>T n.168+11488G>T n.438G>T c.176G>T (p.Gly59Val) c.467G>T (p.Gly156Val) c.372+5423G>T (n.372+5423G>T) | gnomAD v4 |
3 | g.136262047C>A | CA435957493 | PCCB | c.525C>A (p.Gly175=) c.276C>A (p.Gly92=) c.392C>A c.456C>A (p.Gly152=) n.487C>A c.618C>A (p.Gly206=) c.585C>A (p.Gly195=) n.482C>A n.168+11489C>A n.439C>A c.177C>A (p.Gly59=) c.468C>A (p.Gly156=) c.372+5424C>A (n.372+5424C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.136262047C= | CA1404287956 | PCCB | c.525C= (p.Gly175=) c.276C= (p.Gly92=) c.392C= c.456C= (p.Gly152=) n.487C= c.618C= (p.Gly206=) c.585C= (p.Gly195=) n.482C= n.168+11489C= n.439C= c.177C= (p.Gly59=) c.468C= (p.Gly156=) c.372+5424C= (n.372+5424C=) | |
3 | g.136262047C>G | CA435957494 | PCCB | c.525C>G (p.Gly175=) c.276C>G (p.Gly92=) c.392C>G c.456C>G (p.Gly152=) n.487C>G c.618C>G (p.Gly206=) c.585C>G (p.Gly195=) n.482C>G n.168+11489C>G n.439C>G c.177C>G (p.Gly59=) c.468C>G (p.Gly156=) c.372+5424C>G (n.372+5424C>G) | |
3 | g.136262047C>T | CA435957495 | PCCB | c.525C>T (p.Gly175=) c.276C>T (p.Gly92=) c.392C>T c.456C>T (p.Gly152=) n.487C>T c.618C>T (p.Gly206=) c.585C>T (p.Gly195=) n.482C>T n.168+11489C>T n.439C>T c.177C>T (p.Gly59=) c.468C>T (p.Gly156=) c.372+5424C>T (n.372+5424C>T) | |
3 | g.136262048T>A | CA354739966 | PCCB | c.526T>A (p.Tyr176Asn) c.277T>A (p.Tyr93Asn) c.393T>A c.457T>A (p.Tyr153Asn) n.488T>A c.619T>A (p.Tyr207Asn) c.586T>A (p.Tyr196Asn) n.483T>A n.168+11490T>A n.440T>A c.178T>A (p.Tyr60Asn) c.469T>A (p.Tyr157Asn) c.372+5425T>A (n.372+5425T>A) | |
3 | g.136262048T>C | CA354739964 | PCCB | c.526T>C (p.Tyr176His) c.277T>C (p.Tyr93His) c.393T>C c.457T>C (p.Tyr153His) n.488T>C c.619T>C (p.Tyr207His) c.586T>C (p.Tyr196His) n.483T>C n.168+11490T>C n.440T>C c.178T>C (p.Tyr60His) c.469T>C (p.Tyr157His) c.372+5425T>C (n.372+5425T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.136262048T>G | CA354739963 | PCCB | c.526T>G (p.Tyr176Asp) c.277T>G (p.Tyr93Asp) c.393T>G c.457T>G (p.Tyr153Asp) n.488T>G c.619T>G (p.Tyr207Asp) c.586T>G (p.Tyr196Asp) n.483T>G n.168+11490T>G n.440T>G c.178T>G (p.Tyr60Asp) c.469T>G (p.Tyr157Asp) c.372+5425T>G (n.372+5425T>G) | |
3 | g.136262048T= | CA1404287957 | PCCB | c.526T= (p.Tyr176=) c.277T= (p.Tyr93=) c.393T= c.457T= (p.Tyr153=) n.488T= c.619T= (p.Tyr207=) c.586T= (p.Tyr196=) n.483T= n.168+11490T= n.440T= c.178T= (p.Tyr60=) c.469T= (p.Tyr157=) c.372+5425T= (n.372+5425T=) | |
3 | g.136262049A= | CA1404287958 | PCCB | c.527A= (p.Tyr176=) c.278A= (p.Tyr93=) c.394A= c.458A= (p.Tyr153=) n.489A= c.620A= (p.Tyr207=) c.587A= (p.Tyr196=) n.484A= n.168+11491A= n.441A= c.179A= (p.Tyr60=) c.470A= (p.Tyr157=) c.372+5426A= (n.372+5426A=) | |
3 | g.136262049A>C | CA354739970 | PCCB | c.527A>C (p.Tyr176Ser) c.278A>C (p.Tyr93Ser) c.394A>C c.458A>C (p.Tyr153Ser) n.489A>C c.620A>C (p.Tyr207Ser) c.587A>C (p.Tyr196Ser) n.484A>C n.168+11491A>C n.441A>C c.179A>C (p.Tyr60Ser) c.470A>C (p.Tyr157Ser) c.372+5426A>C (n.372+5426A>C) | |
3 | g.136262049A>G | CA354739967 | PCCB | c.527A>G (p.Tyr176Cys) c.278A>G (p.Tyr93Cys) c.394A>G c.458A>G (p.Tyr153Cys) n.489A>G c.620A>G (p.Tyr207Cys) c.587A>G (p.Tyr196Cys) n.484A>G n.168+11491A>G n.441A>G c.179A>G (p.Tyr60Cys) c.470A>G (p.Tyr157Cys) c.372+5426A>G (n.372+5426A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.136262049A>T | CA354739968 | PCCB | c.527A>T (p.Tyr176Phe) c.278A>T (p.Tyr93Phe) c.394A>T c.458A>T (p.Tyr153Phe) n.489A>T c.620A>T (p.Tyr207Phe) c.587A>T (p.Tyr196Phe) n.484A>T n.168+11491A>T n.441A>T c.179A>T (p.Tyr60Phe) c.470A>T (p.Tyr157Phe) c.372+5426A>T (n.372+5426A>T) | |
3 | g.136262050T>A | CA354739971 | PCCB | c.528T>A (p.Tyr176Ter) c.279T>A (p.Tyr93Ter) c.395T>A c.459T>A (p.Tyr153Ter) n.490T>A c.621T>A (p.Tyr207Ter) c.588T>A (p.Tyr196Ter) n.485T>A n.168+11492T>A n.442T>A c.180T>A (p.Tyr60Ter) c.471T>A (p.Tyr157Ter) c.372+5427T>A (n.372+5427T>A) | |
3 | g.136262050T>C | CA435957496 | PCCB | c.528T>C (p.Tyr176=) c.279T>C (p.Tyr93=) c.395T>C c.459T>C (p.Tyr153=) n.490T>C c.621T>C (p.Tyr207=) c.588T>C (p.Tyr196=) n.485T>C n.168+11492T>C n.442T>C c.180T>C (p.Tyr60=) c.471T>C (p.Tyr157=) c.372+5427T>C (n.372+5427T>C) | ClinVar dbSNP |
3 | g.136262050T>G | CA354739973 | PCCB | c.528T>G (p.Tyr176Ter) c.279T>G (p.Tyr93Ter) c.395T>G c.459T>G (p.Tyr153Ter) n.490T>G c.621T>G (p.Tyr207Ter) c.588T>G (p.Tyr196Ter) n.485T>G n.168+11492T>G n.442T>G c.180T>G (p.Tyr60Ter) c.471T>G (p.Tyr157Ter) c.372+5427T>G (n.372+5427T>G) | |
3 | g.136262051G>A | CA354739975 | PCCB | c.529G>A (p.Ala177Thr) c.280G>A (p.Ala94Thr) c.396G>A c.460G>A (p.Ala154Thr) n.491G>A c.622G>A (p.Ala208Thr) c.589G>A (p.Ala197Thr) n.486G>A n.168+11493G>A n.443G>A c.181G>A (p.Ala61Thr) c.472G>A (p.Ala158Thr) c.372+5428G>A (n.372+5428G>A) | |
3 | g.136262051G>C | CA354739976 | PCCB | c.529G>C (p.Ala177Pro) c.280G>C (p.Ala94Pro) c.396G>C c.460G>C (p.Ala154Pro) n.491G>C c.622G>C (p.Ala208Pro) c.589G>C (p.Ala197Pro) n.486G>C n.168+11493G>C n.443G>C c.181G>C (p.Ala61Pro) c.472G>C (p.Ala158Pro) c.372+5428G>C (n.372+5428G>C) | |
3 | g.136262051G>T | CA354739977 | PCCB | c.529G>T (p.Ala177Ser) c.280G>T (p.Ala94Ser) c.396G>T c.460G>T (p.Ala154Ser) n.491G>T c.622G>T (p.Ala208Ser) c.589G>T (p.Ala197Ser) n.486G>T n.168+11493G>T n.443G>T c.181G>T (p.Ala61Ser) c.472G>T (p.Ala158Ser) c.372+5428G>T (n.372+5428G>T) | gnomAD v4 |
3 | g.136262052C>A | CA354739979 | PCCB | c.530C>A (p.Ala177Glu) c.281C>A (p.Ala94Glu) c.397C>A c.461C>A (p.Ala154Glu) n.492C>A c.623C>A (p.Ala208Glu) c.590C>A (p.Ala197Glu) n.487C>A n.168+11494C>A n.444C>A c.182C>A (p.Ala61Glu) c.473C>A (p.Ala158Glu) c.372+5429C>A (n.372+5429C>A) | gnomAD v4 |
3 | g.136262052C>G | CA354739980 | PCCB | c.530C>G (p.Ala177Gly) c.281C>G (p.Ala94Gly) c.397C>G c.461C>G (p.Ala154Gly) n.492C>G c.623C>G (p.Ala208Gly) c.590C>G (p.Ala197Gly) n.487C>G n.168+11494C>G n.444C>G c.182C>G (p.Ala61Gly) c.473C>G (p.Ala158Gly) c.372+5429C>G (n.372+5429C>G) | |
3 | g.136262052C>T | CA354739981 | PCCB | c.530C>T (p.Ala177Val) c.281C>T (p.Ala94Val) c.397C>T c.461C>T (p.Ala154Val) n.492C>T c.623C>T (p.Ala208Val) c.590C>T (p.Ala197Val) n.487C>T n.168+11494C>T n.444C>T c.182C>T (p.Ala61Val) c.473C>T (p.Ala158Val) c.372+5429C>T (n.372+5429C>T) |