OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4683381T= | CA1342287122 | ITPR1 | c.3135-5T= (n.3135-5T=) c.3117-5T= (n.3117-5T=) c.3090-5T= (n.3090-5T=) c.996+29495T= (n.996+29495T=) n.663-5T= c.972-5T= (n.972-5T=) c.70-5T= c.464-5T= c.3162-5T= (n.3162-5T=) | |
| 3 | g.4683381_4683382insA | CA907584886 | ITPR1 | c.3135-5_3135-4insA (n.3135-5_3135-4insA) c.3117-5_3117-4insA (n.3117-5_3117-4insA) c.3090-5_3090-4insA (n.3090-5_3090-4insA) c.996+29495_996+29496insA (n.996+29495_996+29496insA) n.663-5_663-4insA c.972-5_972-4insA (n.972-5_972-4insA) c.70-5_70-4insA c.464-5_464-4insA c.3162-5_3162-4insA (n.3162-5_3162-4insA) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4683383T>C | CA2664214634 | ITPR1 | c.3135-3T>C (n.3135-3T>C) c.3117-3T>C (n.3117-3T>C) c.3090-3T>C (n.3090-3T>C) c.996+29497T>C (n.996+29497T>C) n.663-3T>C c.972-3T>C (n.972-3T>C) c.70-3T>C c.464-3T>C c.3162-3T>C (n.3162-3T>C) | gnomAD v4 |
| 3 | g.4683384A>C | CA351650481 | ITPR1 | c.3135-2A>C (n.3135-2A>C) c.3117-2A>C (n.3117-2A>C) c.3090-2A>C (n.3090-2A>C) c.996+29498A>C (n.996+29498A>C) n.663-2A>C c.972-2A>C (n.972-2A>C) c.70-2A>C c.464-2A>C c.3162-2A>C (n.3162-2A>C) | |
| 3 | g.4683384A>G | CA351650482 | ITPR1 | c.3135-2A>G (n.3135-2A>G) c.3117-2A>G (n.3117-2A>G) c.3090-2A>G (n.3090-2A>G) c.996+29498A>G (n.996+29498A>G) n.663-2A>G c.972-2A>G (n.972-2A>G) c.70-2A>G c.464-2A>G c.3162-2A>G (n.3162-2A>G) | |
| 3 | g.4683384A>T | CA351650483 | ITPR1 | c.3135-2A>T (n.3135-2A>T) c.3117-2A>T (n.3117-2A>T) c.3090-2A>T (n.3090-2A>T) c.996+29498A>T (n.996+29498A>T) n.663-2A>T c.972-2A>T (n.972-2A>T) c.70-2A>T c.464-2A>T c.3162-2A>T (n.3162-2A>T) | |
| 3 | g.4683385G>A | CA351650484 | ITPR1 | c.3135-1G>A (n.3135-1G>A) c.3117-1G>A (n.3117-1G>A) c.3090-1G>A (n.3090-1G>A) c.996+29499G>A (n.996+29499G>A) n.663-1G>A c.972-1G>A (n.972-1G>A) c.70-1G>A c.464-1G>A c.3162-1G>A (n.3162-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683385G>C | CA351650485 | ITPR1 | c.3135-1G>C (n.3135-1G>C) c.3117-1G>C (n.3117-1G>C) c.3090-1G>C (n.3090-1G>C) c.996+29499G>C (n.996+29499G>C) n.663-1G>C c.972-1G>C (n.972-1G>C) c.70-1G>C c.464-1G>C c.3162-1G>C (n.3162-1G>C) | |
| 3 | g.4683385G= | CA1342287125 | ITPR1 | c.3135-1G= (n.3135-1G=) c.3117-1G= (n.3117-1G=) c.3090-1G= (n.3090-1G=) c.996+29499G= (n.996+29499G=) n.663-1G= c.972-1G= (n.972-1G=) c.70-1G= c.464-1G= c.3162-1G= (n.3162-1G=) | |
| 3 | g.4683385G>T | CA351650486 | ITPR1 | c.3135-1G>T (n.3135-1G>T) c.3117-1G>T (n.3117-1G>T) c.3090-1G>T (n.3090-1G>T) c.996+29499G>T (n.996+29499G>T) n.663-1G>T c.972-1G>T (n.972-1G>T) c.70-1G>T c.464-1G>T c.3162-1G>T (n.3162-1G>T) | dbSNP gnomAD v4 |
| 3 | g.4683386T>A | CA351650487 | ITPR1 | c.3135T>A (p.Ser1045Arg) c.3117T>A (p.Ser1039Arg) c.3090T>A (p.Ser1030Arg) c.996+29500T>A (n.996+29500T>A) n.663T>A c.972T>A (p.Ser324Arg) c.70T>A c.464T>A c.3162T>A (p.Ser1054Arg) | |
| 3 | g.4683386T>C | CA432321128 | ITPR1 | c.3135T>C (p.Ser1045=) c.3117T>C (p.Ser1039=) c.3090T>C (p.Ser1030=) c.996+29500T>C (n.996+29500T>C) n.663T>C c.972T>C (p.Ser324=) c.70T>C c.464T>C c.3162T>C (p.Ser1054=) | |
| 3 | g.4683386T>G | CA2231619 | ITPR1 | c.3135T>G (p.Ser1045Arg) c.3117T>G (p.Ser1039Arg) c.3090T>G (p.Ser1030Arg) c.996+29500T>G (n.996+29500T>G) n.663T>G c.972T>G (p.Ser324Arg) c.70T>G c.464T>G c.3162T>G (p.Ser1054Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4683386T= | CA1342287127 | ITPR1 | c.3135T= (p.Ser1045=) c.3117T= (p.Ser1039=) c.3090T= (p.Ser1030=) c.996+29500T= (n.996+29500T=) n.663T= c.972T= (p.Ser324=) c.70T= c.464T= c.3162T= (p.Ser1054=) | |
| 3 | g.4683387G>A | CA351650488 | ITPR1 | c.3136G>A (p.Glu1046Lys) c.3118G>A (p.Glu1040Lys) c.3091G>A (p.Glu1031Lys) c.996+29501G>A (n.996+29501G>A) n.664G>A c.973G>A (p.Glu325Lys) c.71G>A c.465G>A c.3163G>A (p.Glu1055Lys) | ClinVar dbSNP |
| 3 | g.4683387G>C | CA351650490 | ITPR1 | c.3136G>C (p.Glu1046Gln) c.3118G>C (p.Glu1040Gln) c.3091G>C (p.Glu1031Gln) c.996+29501G>C (n.996+29501G>C) n.664G>C c.973G>C (p.Glu325Gln) c.71G>C c.465G>C c.3163G>C (p.Glu1055Gln) | |
| 3 | g.4683387G>T | CA351650489 | ITPR1 | c.3136G>T (p.Glu1046Ter) c.3118G>T (p.Glu1040Ter) c.3091G>T (p.Glu1031Ter) c.996+29501G>T (n.996+29501G>T) n.664G>T c.973G>T (p.Glu325Ter) c.71G>T c.465G>T c.3163G>T (p.Glu1055Ter) | |
| 3 | g.4683388A>C | CA351650491 | ITPR1 | c.3137A>C (p.Glu1046Ala) c.3119A>C (p.Glu1040Ala) c.3092A>C (p.Glu1031Ala) c.996+29502A>C (n.996+29502A>C) n.665A>C c.974A>C (p.Glu325Ala) c.72A>C c.466A>C c.3164A>C (p.Glu1055Ala) | |
| 3 | g.4683388A>G | CA351650492 | ITPR1 | c.3137A>G (p.Glu1046Gly) c.3119A>G (p.Glu1040Gly) c.3092A>G (p.Glu1031Gly) c.996+29502A>G (n.996+29502A>G) n.665A>G c.974A>G (p.Glu325Gly) c.72A>G c.466A>G c.3164A>G (p.Glu1055Gly) | |
| 3 | g.4683388A>T | CA351650493 | ITPR1 | c.3137A>T (p.Glu1046Val) c.3119A>T (p.Glu1040Val) c.3092A>T (p.Glu1031Val) c.996+29502A>T (n.996+29502A>T) n.665A>T c.974A>T (p.Glu325Val) c.72A>T c.466A>T c.3164A>T (p.Glu1055Val) | |
| 3 | g.4683389G>A | CA432321136 | ITPR1 | c.3138G>A (p.Glu1046=) c.3120G>A (p.Glu1040=) c.3093G>A (p.Glu1031=) c.996+29503G>A (n.996+29503G>A) n.666G>A c.975G>A (p.Glu325=) c.73G>A c.467G>A c.3165G>A (p.Glu1055=) | gnomAD v4 |
| 3 | g.4683389G>C | CA351650494 | ITPR1 | c.3138G>C (p.Glu1046Asp) c.3120G>C (p.Glu1040Asp) c.3093G>C (p.Glu1031Asp) c.996+29503G>C (n.996+29503G>C) n.666G>C c.975G>C (p.Glu325Asp) c.73G>C c.467G>C c.3165G>C (p.Glu1055Asp) | |
| 3 | g.4683389G>T | CA351650495 | ITPR1 | c.3138G>T (p.Glu1046Asp) c.3120G>T (p.Glu1040Asp) c.3093G>T (p.Glu1031Asp) c.996+29503G>T (n.996+29503G>T) n.666G>T c.975G>T (p.Glu325Asp) c.73G>T c.467G>T c.3165G>T (p.Glu1055Asp) | |
| 3 | g.4683390G>A | CA351650496 | ITPR1 | c.3139G>A (p.Glu1047Lys) c.3121G>A (p.Glu1041Lys) c.3094G>A (p.Glu1032Lys) c.996+29504G>A (n.996+29504G>A) n.667G>A c.976G>A (p.Glu326Lys) c.74G>A c.468G>A c.3166G>A (p.Glu1056Lys) | |
| 3 | g.4683390G>C | CA351650497 | ITPR1 | c.3139G>C (p.Glu1047Gln) c.3121G>C (p.Glu1041Gln) c.3094G>C (p.Glu1032Gln) c.996+29504G>C (n.996+29504G>C) n.667G>C c.976G>C (p.Glu326Gln) c.74G>C c.468G>C c.3166G>C (p.Glu1056Gln) | |
| 3 | g.4683390G>T | CA351650498 | ITPR1 | c.3139G>T (p.Glu1047Ter) c.3121G>T (p.Glu1041Ter) c.3094G>T (p.Glu1032Ter) c.996+29504G>T (n.996+29504G>T) n.667G>T c.976G>T (p.Glu326Ter) c.74G>T c.468G>T c.3166G>T (p.Glu1056Ter) | |
| 3 | g.4683391A>C | CA351650499 | ITPR1 | c.3140A>C (p.Glu1047Ala) c.3122A>C (p.Glu1041Ala) c.3095A>C (p.Glu1032Ala) c.996+29505A>C (n.996+29505A>C) n.668A>C c.977A>C (p.Glu326Ala) c.75A>C c.469A>C c.3167A>C (p.Glu1056Ala) | gnomAD v4 |
| 3 | g.4683391A>G | CA351650500 | ITPR1 | c.3140A>G (p.Glu1047Gly) c.3122A>G (p.Glu1041Gly) c.3095A>G (p.Glu1032Gly) c.996+29505A>G (n.996+29505A>G) n.668A>G c.977A>G (p.Glu326Gly) c.75A>G c.469A>G c.3167A>G (p.Glu1056Gly) | gnomAD v4 |
| 3 | g.4683391A>T | CA351650501 | ITPR1 | c.3140A>T (p.Glu1047Val) c.3122A>T (p.Glu1041Val) c.3095A>T (p.Glu1032Val) c.996+29505A>T (n.996+29505A>T) n.668A>T c.977A>T (p.Glu326Val) c.75A>T c.469A>T c.3167A>T (p.Glu1056Val) | |
| 3 | g.4683392G>A | CA68827051 | ITPR1 | c.3141G>A (p.Glu1047=) c.3123G>A (p.Glu1041=) c.3096G>A (p.Glu1032=) c.996+29506G>A (n.996+29506G>A) n.669G>A c.978G>A (p.Glu326=) c.76G>A c.470G>A c.3168G>A (p.Glu1056=) | dbSNP |
| 3 | g.4683392G>C | CA351650503 | ITPR1 | c.3141G>C (p.Glu1047Asp) c.3123G>C (p.Glu1041Asp) c.3096G>C (p.Glu1032Asp) c.996+29506G>C (n.996+29506G>C) n.669G>C c.978G>C (p.Glu326Asp) c.76G>C c.470G>C c.3168G>C (p.Glu1056Asp) | |
| 3 | g.4683392G= | CA1342287129 | ITPR1 | c.3141G= (p.Glu1047=) c.3123G= (p.Glu1041=) c.3096G= (p.Glu1032=) c.996+29506G= (n.996+29506G=) n.669G= c.978G= (p.Glu326=) c.76G= c.470G= c.3168G= (p.Glu1056=) | |
| 3 | g.4683392G>T | CA351650502 | ITPR1 | c.3141G>T (p.Glu1047Asp) c.3123G>T (p.Glu1041Asp) c.3096G>T (p.Glu1032Asp) c.996+29506G>T (n.996+29506G>T) n.669G>T c.978G>T (p.Glu326Asp) c.76G>T c.470G>T c.3168G>T (p.Glu1056Asp) | |
| 3 | g.4683393A>C | CA351650504 | ITPR1 | c.3142A>C (p.Asn1048His) c.3124A>C (p.Asn1042His) c.3097A>C (p.Asn1033His) c.996+29507A>C (n.996+29507A>C) n.670A>C c.979A>C (p.Asn327His) c.77A>C c.471A>C c.3169A>C (p.Asn1057His) | |
| 3 | g.4683393A>G | CA351650505 | ITPR1 | c.3142A>G (p.Asn1048Asp) c.3124A>G (p.Asn1042Asp) c.3097A>G (p.Asn1033Asp) c.996+29507A>G (n.996+29507A>G) n.670A>G c.979A>G (p.Asn327Asp) c.77A>G c.471A>G c.3169A>G (p.Asn1057Asp) | |
| 3 | g.4683393A>T | CA351650506 | ITPR1 | c.3142A>T (p.Asn1048Tyr) c.3124A>T (p.Asn1042Tyr) c.3097A>T (p.Asn1033Tyr) c.996+29507A>T (n.996+29507A>T) n.670A>T c.979A>T (p.Asn327Tyr) c.77A>T c.471A>T c.3169A>T (p.Asn1057Tyr) | |
| 3 | g.4683394A>C | CA351650507 | ITPR1 | c.3143A>C (p.Asn1048Thr) c.3125A>C (p.Asn1042Thr) c.3098A>C (p.Asn1033Thr) c.996+29508A>C (n.996+29508A>C) n.671A>C c.980A>C (p.Asn327Thr) c.78A>C c.472A>C c.3170A>C (p.Asn1057Thr) | |
| 3 | g.4683394A>G | CA351650508 | ITPR1 | c.3143A>G (p.Asn1048Ser) c.3125A>G (p.Asn1042Ser) c.3098A>G (p.Asn1033Ser) c.996+29508A>G (n.996+29508A>G) n.671A>G c.980A>G (p.Asn327Ser) c.78A>G c.472A>G c.3170A>G (p.Asn1057Ser) | |
| 3 | g.4683394A>T | CA351650509 | ITPR1 | c.3143A>T (p.Asn1048Ile) c.3125A>T (p.Asn1042Ile) c.3098A>T (p.Asn1033Ile) c.996+29508A>T (n.996+29508A>T) n.671A>T c.980A>T (p.Asn327Ile) c.78A>T c.472A>T c.3170A>T (p.Asn1057Ile) | |
| 3 | g.4683395C>A | CA351650511 | ITPR1 | c.3144C>A (p.Asn1048Lys) c.3126C>A (p.Asn1042Lys) c.3099C>A (p.Asn1033Lys) c.996+29509C>A (n.996+29509C>A) n.672C>A c.981C>A (p.Asn327Lys) c.79C>A c.473C>A c.3171C>A (p.Asn1057Lys) | |
| 3 | g.4683395C= | CA1342287134 | ITPR1 | c.3144C= (p.Asn1048=) c.3126C= (p.Asn1042=) c.3099C= (p.Asn1033=) c.996+29509C= (n.996+29509C=) n.672C= c.981C= (p.Asn327=) c.79C= c.473C= c.3171C= (p.Asn1057=) | |
| 3 | g.4683395C>G | CA351650510 | ITPR1 | c.3144C>G (p.Asn1048Lys) c.3126C>G (p.Asn1042Lys) c.3099C>G (p.Asn1033Lys) c.996+29509C>G (n.996+29509C>G) n.672C>G c.981C>G (p.Asn327Lys) c.79C>G c.473C>G c.3171C>G (p.Asn1057Lys) | |
| 3 | g.4683395C>T | CA2231620 | ITPR1 | c.3144C>T (p.Asn1048=) c.3126C>T (p.Asn1042=) c.3099C>T (p.Asn1033=) c.996+29509C>T (n.996+29509C>T) n.672C>T c.981C>T (p.Asn327=) c.79C>T c.473C>T c.3171C>T (p.Asn1057=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683396A>C | CA351650512 | ITPR1 | c.3145A>C (p.Thr1049Pro) c.3127A>C (p.Thr1043Pro) c.3100A>C (p.Thr1034Pro) c.996+29510A>C (n.996+29510A>C) n.673A>C c.982A>C (p.Thr328Pro) c.80A>C c.474A>C c.3172A>C (p.Thr1058Pro) | |
| 3 | g.4683396A>G | CA351650513 | ITPR1 | c.3145A>G (p.Thr1049Ala) c.3127A>G (p.Thr1043Ala) c.3100A>G (p.Thr1034Ala) c.996+29510A>G (n.996+29510A>G) n.673A>G c.982A>G (p.Thr328Ala) c.80A>G c.474A>G c.3172A>G (p.Thr1058Ala) | |
| 3 | g.4683396A>T | CA351650514 | ITPR1 | c.3145A>T (p.Thr1049Ser) c.3127A>T (p.Thr1043Ser) c.3100A>T (p.Thr1034Ser) c.996+29510A>T (n.996+29510A>T) n.673A>T c.982A>T (p.Thr328Ser) c.80A>T c.474A>T c.3172A>T (p.Thr1058Ser) | |
| 3 | g.4683397C>A | CA351650515 | ITPR1 | c.3146C>A (p.Thr1049Asn) c.3128C>A (p.Thr1043Asn) c.3101C>A (p.Thr1034Asn) c.996+29511C>A (n.996+29511C>A) n.674C>A c.983C>A (p.Thr328Asn) c.81C>A c.475C>A c.3173C>A (p.Thr1058Asn) | gnomAD v4 |
| 3 | g.4683397C= | CA1342287138 | ITPR1 | c.3146C= (p.Thr1049=) c.3128C= (p.Thr1043=) c.3101C= (p.Thr1034=) c.996+29511C= (n.996+29511C=) n.674C= c.983C= (p.Thr328=) c.81C= c.475C= c.3173C= (p.Thr1058=) | |
| 3 | g.4683397C>G | CA351650516 | ITPR1 | c.3146C>G (p.Thr1049Ser) c.3128C>G (p.Thr1043Ser) c.3101C>G (p.Thr1034Ser) c.996+29511C>G (n.996+29511C>G) n.674C>G c.983C>G (p.Thr328Ser) c.81C>G c.475C>G c.3173C>G (p.Thr1058Ser) | dbSNP |
| 3 | g.4683397C>T | CA351650517 | ITPR1 | c.3146C>T (p.Thr1049Ile) c.3128C>T (p.Thr1043Ile) c.3101C>T (p.Thr1034Ile) c.996+29511C>T (n.996+29511C>T) n.674C>T c.983C>T (p.Thr328Ile) c.81C>T c.475C>T c.3173C>T (p.Thr1058Ile) | gnomAD v4 |
| 3 | g.4683398C>A | CA432321160 | ITPR1 | c.3147C>A (p.Thr1049=) c.3129C>A (p.Thr1043=) c.3102C>A (p.Thr1034=) c.996+29512C>A (n.996+29512C>A) n.675C>A c.984C>A (p.Thr328=) c.82C>A c.476C>A c.3174C>A (p.Thr1058=) | |
| 3 | g.4683398C= | CA1342287144 | ITPR1 | c.3147C= (p.Thr1049=) c.3129C= (p.Thr1043=) c.3102C= (p.Thr1034=) c.996+29512C= (n.996+29512C=) n.675C= c.984C= (p.Thr328=) c.82C= c.476C= c.3174C= (p.Thr1058=) | |
| 3 | g.4683398C>G | CA432321161 | ITPR1 | c.3147C>G (p.Thr1049=) c.3129C>G (p.Thr1043=) c.3102C>G (p.Thr1034=) c.996+29512C>G (n.996+29512C>G) n.675C>G c.984C>G (p.Thr328=) c.82C>G c.476C>G c.3174C>G (p.Thr1058=) | |
| 3 | g.4683398C>T | CA432321163 | ITPR1 | c.3147C>T (p.Thr1049=) c.3129C>T (p.Thr1043=) c.3102C>T (p.Thr1034=) c.996+29512C>T (n.996+29512C>T) n.675C>T c.984C>T (p.Thr328=) c.82C>T c.476C>T c.3174C>T (p.Thr1058=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683399C>A | CA351650518 | ITPR1 | c.3148C>A (p.Pro1050Thr) c.3130C>A (p.Pro1044Thr) c.3103C>A (p.Pro1035Thr) c.996+29513C>A (n.996+29513C>A) n.676C>A c.985C>A (p.Pro329Thr) c.83C>A c.477C>A c.3175C>A (p.Pro1059Thr) | |
| 3 | g.4683399C= | CA1342287148 | ITPR1 | c.3148C= (p.Pro1050=) c.3130C= (p.Pro1044=) c.3103C= (p.Pro1035=) c.996+29513C= (n.996+29513C=) n.676C= c.985C= (p.Pro329=) c.83C= c.477C= c.3175C= (p.Pro1059=) | |
| 3 | g.4683399C>G | CA351650519 | ITPR1 | c.3148C>G (p.Pro1050Ala) c.3130C>G (p.Pro1044Ala) c.3103C>G (p.Pro1035Ala) c.996+29513C>G (n.996+29513C>G) n.676C>G c.985C>G (p.Pro329Ala) c.83C>G c.477C>G c.3175C>G (p.Pro1059Ala) | |
| 3 | g.4683399C>T | CA2231621 | ITPR1 | c.3148C>T (p.Pro1050Ser) c.3130C>T (p.Pro1044Ser) c.3103C>T (p.Pro1035Ser) c.996+29513C>T (n.996+29513C>T) n.676C>T c.985C>T (p.Pro329Ser) c.83C>T c.477C>T c.3175C>T (p.Pro1059Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.4683400C>A | CA351650520 | ITPR1 | c.3149C>A (p.Pro1050Gln) c.3131C>A (p.Pro1044Gln) c.3104C>A (p.Pro1035Gln) c.996+29514C>A (n.996+29514C>A) n.677C>A c.986C>A (p.Pro329Gln) c.84C>A c.478C>A c.3176C>A (p.Pro1059Gln) | |
| 3 | g.4683400C>G | CA351650521 | ITPR1 | c.3149C>G (p.Pro1050Arg) c.3131C>G (p.Pro1044Arg) c.3104C>G (p.Pro1035Arg) c.996+29514C>G (n.996+29514C>G) n.677C>G c.986C>G (p.Pro329Arg) c.84C>G c.478C>G c.3176C>G (p.Pro1059Arg) | |
| 3 | g.4683400C>T | CA351650522 | ITPR1 | c.3149C>T (p.Pro1050Leu) c.3131C>T (p.Pro1044Leu) c.3104C>T (p.Pro1035Leu) c.996+29514C>T (n.996+29514C>T) n.677C>T c.986C>T (p.Pro329Leu) c.84C>T c.478C>T c.3176C>T (p.Pro1059Leu) | |
| 3 | g.4683401A= | CA1342287153 | ITPR1 | c.3150A= (p.Pro1050=) c.3132A= (p.Pro1044=) c.3105A= (p.Pro1035=) c.996+29515A= (n.996+29515A=) n.678A= c.987A= (p.Pro329=) c.85A= c.479A= c.3177A= (p.Pro1059=) | |
| 3 | g.4683401A>C | CA432321176 | ITPR1 | c.3150A>C (p.Pro1050=) c.3132A>C (p.Pro1044=) c.3105A>C (p.Pro1035=) c.996+29515A>C (n.996+29515A>C) n.678A>C c.987A>C (p.Pro329=) c.85A>C c.479A>C c.3177A>C (p.Pro1059=) | |
| 3 | g.4683401A>G | CA432321174 | ITPR1 | c.3150A>G (p.Pro1050=) c.3132A>G (p.Pro1044=) c.3105A>G (p.Pro1035=) c.996+29515A>G (n.996+29515A>G) n.678A>G c.987A>G (p.Pro329=) c.85A>G c.479A>G c.3177A>G (p.Pro1059=) | dbSNP |
| 3 | g.4683401A>T | CA68827084 | ITPR1 | c.3150A>T (p.Pro1050=) c.3132A>T (p.Pro1044=) c.3105A>T (p.Pro1035=) c.996+29515A>T (n.996+29515A>T) n.678A>T c.987A>T (p.Pro329=) c.85A>T c.479A>T c.3177A>T (p.Pro1059=) | dbSNP gnomAD v4 |
| 3 | g.4683402C>A | CA351650523 | ITPR1 | c.3151C>A (p.Leu1051Met) c.3133C>A (p.Leu1045Met) c.3106C>A (p.Leu1036Met) c.996+29516C>A (n.996+29516C>A) n.679C>A c.988C>A (p.Leu330Met) c.86C>A c.480C>A c.3178C>A (p.Leu1060Met) | |
| 3 | g.4683402C>G | CA351650524 | ITPR1 | c.3151C>G (p.Leu1051Val) c.3133C>G (p.Leu1045Val) c.3106C>G (p.Leu1036Val) c.996+29516C>G (n.996+29516C>G) n.679C>G c.988C>G (p.Leu330Val) c.86C>G c.480C>G c.3178C>G (p.Leu1060Val) | |
| 3 | g.4683402C>T | CA432321178 | ITPR1 | c.3151C>T (p.Leu1051=) c.3133C>T (p.Leu1045=) c.3106C>T (p.Leu1036=) c.996+29516C>T (n.996+29516C>T) n.679C>T c.988C>T (p.Leu330=) c.86C>T c.480C>T c.3178C>T (p.Leu1060=) | |
| 3 | g.4683403T>A | CA351650525 | ITPR1 | c.3152T>A (p.Leu1051Gln) c.3134T>A (p.Leu1045Gln) c.3107T>A (p.Leu1036Gln) c.996+29517T>A (n.996+29517T>A) n.680T>A c.989T>A (p.Leu330Gln) c.87T>A c.481T>A c.3179T>A (p.Leu1060Gln) | gnomAD v4 |
| 3 | g.4683403T>C | CA351650526 | ITPR1 | c.3152T>C (p.Leu1051Pro) c.3134T>C (p.Leu1045Pro) c.3107T>C (p.Leu1036Pro) c.996+29517T>C (n.996+29517T>C) n.680T>C c.989T>C (p.Leu330Pro) c.87T>C c.481T>C c.3179T>C (p.Leu1060Pro) | |
| 3 | g.4683403T>G | CA351650527 | ITPR1 | c.3152T>G (p.Leu1051Arg) c.3134T>G (p.Leu1045Arg) c.3107T>G (p.Leu1036Arg) c.996+29517T>G (n.996+29517T>G) n.680T>G c.989T>G (p.Leu330Arg) c.87T>G c.481T>G c.3179T>G (p.Leu1060Arg) | |
| 3 | g.4683404G>A | CA432321182 | ITPR1 | c.3153G>A (p.Leu1051=) c.3135G>A (p.Leu1045=) c.3108G>A (p.Leu1036=) c.996+29518G>A (n.996+29518G>A) n.681G>A c.990G>A (p.Leu330=) c.88G>A c.482G>A c.3180G>A (p.Leu1060=) | gnomAD v4 |
| 3 | g.4683404G>C | CA432321183 | ITPR1 | c.3153G>C (p.Leu1051=) c.3135G>C (p.Leu1045=) c.3108G>C (p.Leu1036=) c.996+29518G>C (n.996+29518G>C) n.681G>C c.990G>C (p.Leu330=) c.88G>C c.482G>C c.3180G>C (p.Leu1060=) | |
| 3 | g.4683404G>T | CA432321185 | ITPR1 | c.3153G>T (p.Leu1051=) c.3135G>T (p.Leu1045=) c.3108G>T (p.Leu1036=) c.996+29518G>T (n.996+29518G>T) n.681G>T c.990G>T (p.Leu330=) c.88G>T c.482G>T c.3180G>T (p.Leu1060=) | |
| 3 | g.4683405G>A | CA351650528 | ITPR1 | c.3154G>A (p.Asp1052Asn) c.3136G>A (p.Asp1046Asn) c.3109G>A (p.Asp1037Asn) c.996+29519G>A (n.996+29519G>A) n.682G>A c.991G>A (p.Asp331Asn) c.89G>A c.483G>A c.3181G>A (p.Asp1061Asn) | ClinVar |
| 3 | g.4683405G>C | CA351650529 | ITPR1 | c.3154G>C (p.Asp1052His) c.3136G>C (p.Asp1046His) c.3109G>C (p.Asp1037His) c.996+29519G>C (n.996+29519G>C) n.682G>C c.991G>C (p.Asp331His) c.89G>C c.483G>C c.3181G>C (p.Asp1061His) | |
| 3 | g.4683405G>T | CA351650530 | ITPR1 | c.3154G>T (p.Asp1052Tyr) c.3136G>T (p.Asp1046Tyr) c.3109G>T (p.Asp1037Tyr) c.996+29519G>T (n.996+29519G>T) n.682G>T c.991G>T (p.Asp331Tyr) c.89G>T c.483G>T c.3181G>T (p.Asp1061Tyr) | |
| 3 | g.4683406A>C | CA351650533 | ITPR1 | c.3155A>C (p.Asp1052Ala) c.3137A>C (p.Asp1046Ala) c.3110A>C (p.Asp1037Ala) c.996+29520A>C (n.996+29520A>C) n.683A>C c.992A>C (p.Asp331Ala) c.90A>C c.484A>C c.3182A>C (p.Asp1061Ala) | |
| 3 | g.4683406A>G | CA351650531 | ITPR1 | c.3155A>G (p.Asp1052Gly) c.3137A>G (p.Asp1046Gly) c.3110A>G (p.Asp1037Gly) c.996+29520A>G (n.996+29520A>G) n.683A>G c.992A>G (p.Asp331Gly) c.90A>G c.484A>G c.3182A>G (p.Asp1061Gly) | gnomAD v4 |
| 3 | g.4683406A>T | CA351650532 | ITPR1 | c.3155A>T (p.Asp1052Val) c.3137A>T (p.Asp1046Val) c.3110A>T (p.Asp1037Val) c.996+29520A>T (n.996+29520A>T) n.683A>T c.992A>T (p.Asp331Val) c.90A>T c.484A>T c.3182A>T (p.Asp1061Val) | gnomAD v4 |
| 3 | g.4683407C>A | CA351650534 | ITPR1 | c.3156C>A (p.Asp1052Glu) c.3138C>A (p.Asp1046Glu) c.3111C>A (p.Asp1037Glu) c.996+29521C>A (n.996+29521C>A) n.684C>A c.993C>A (p.Asp331Glu) c.91C>A c.485C>A c.3183C>A (p.Asp1061Glu) | |
| 3 | g.4683407C>G | CA351650535 | ITPR1 | c.3156C>G (p.Asp1052Glu) c.3138C>G (p.Asp1046Glu) c.3111C>G (p.Asp1037Glu) c.996+29521C>G (n.996+29521C>G) n.684C>G c.993C>G (p.Asp331Glu) c.91C>G c.485C>G c.3183C>G (p.Asp1061Glu) | gnomAD v4 |
| 3 | g.4683407C>T | CA432321194 | ITPR1 | c.3156C>T (p.Asp1052=) c.3138C>T (p.Asp1046=) c.3111C>T (p.Asp1037=) c.996+29521C>T (n.996+29521C>T) n.684C>T c.993C>T (p.Asp331=) c.91C>T c.485C>T c.3183C>T (p.Asp1061=) | gnomAD v4 |
| 3 | g.4683408T>A | CA351650536 | ITPR1 | c.3157T>A (p.Leu1053Met) c.3139T>A (p.Leu1047Met) c.3112T>A (p.Leu1038Met) c.996+29522T>A (n.996+29522T>A) n.685T>A c.994T>A (p.Leu332Met) c.92T>A c.486T>A c.3184T>A (p.Leu1062Met) | |
| 3 | g.4683408T>C | CA432321202 | ITPR1 | c.3157T>C (p.Leu1053=) c.3139T>C (p.Leu1047=) c.3112T>C (p.Leu1038=) c.996+29522T>C (n.996+29522T>C) n.685T>C c.994T>C (p.Leu332=) c.92T>C c.486T>C c.3184T>C (p.Leu1062=) | gnomAD v4 |
| 3 | g.4683408T>G | CA351650537 | ITPR1 | c.3157T>G (p.Leu1053Val) c.3139T>G (p.Leu1047Val) c.3112T>G (p.Leu1038Val) c.996+29522T>G (n.996+29522T>G) n.685T>G c.994T>G (p.Leu332Val) c.92T>G c.486T>G c.3184T>G (p.Leu1062Val) | dbSNP |
| 3 | g.4683408T= | CA1342287155 | ITPR1 | c.3157T= (p.Leu1053=) c.3139T= (p.Leu1047=) c.3112T= (p.Leu1038=) c.996+29522T= (n.996+29522T=) n.685T= c.994T= (p.Leu332=) c.92T= c.486T= c.3184T= (p.Leu1062=) | |
| 3 | g.4683409T>A | CA351650538 | ITPR1 | c.3158T>A (p.Leu1053Ter) c.3140T>A (p.Leu1047Ter) c.3113T>A (p.Leu1038Ter) c.996+29523T>A (n.996+29523T>A) n.686T>A c.995T>A (p.Leu332Ter) c.93T>A c.487T>A c.3185T>A (p.Leu1062Ter) | |
| 3 | g.4683409T>C | CA351650540 | ITPR1 | c.3158T>C (p.Leu1053Ser) c.3140T>C (p.Leu1047Ser) c.3113T>C (p.Leu1038Ser) c.996+29523T>C (n.996+29523T>C) n.686T>C c.995T>C (p.Leu332Ser) c.93T>C c.487T>C c.3185T>C (p.Leu1062Ser) | |
| 3 | g.4683409T>G | CA351650539 | ITPR1 | c.3158T>G (p.Leu1053Trp) c.3140T>G (p.Leu1047Trp) c.3113T>G (p.Leu1038Trp) c.996+29523T>G (n.996+29523T>G) n.686T>G c.995T>G (p.Leu332Trp) c.93T>G c.487T>G c.3185T>G (p.Leu1062Trp) | |
| 3 | g.4683410G>A | CA432321210 | ITPR1 | c.3159G>A (p.Leu1053=) c.3141G>A (p.Leu1047=) c.3114G>A (p.Leu1038=) c.996+29524G>A (n.996+29524G>A) n.687G>A c.996G>A (p.Leu332=) c.94G>A c.488G>A c.3186G>A (p.Leu1062=) | |
| 3 | g.4683410G>C | CA351650541 | ITPR1 | c.3159G>C (p.Leu1053Phe) c.3141G>C (p.Leu1047Phe) c.3114G>C (p.Leu1038Phe) c.996+29524G>C (n.996+29524G>C) n.687G>C c.996G>C (p.Leu332Phe) c.94G>C c.488G>C c.3186G>C (p.Leu1062Phe) | |
| 3 | g.4683410G>T | CA351650542 | ITPR1 | c.3159G>T (p.Leu1053Phe) c.3141G>T (p.Leu1047Phe) c.3114G>T (p.Leu1038Phe) c.996+29524G>T (n.996+29524G>T) n.687G>T c.996G>T (p.Leu332Phe) c.94G>T c.488G>T c.3186G>T (p.Leu1062Phe) | |
| 3 | g.4683411G>A | CA351650543 | ITPR1 | c.3160G>A (p.Asp1054Asn) c.3142G>A (p.Asp1048Asn) c.3115G>A (p.Asp1039Asn) c.996+29525G>A (n.996+29525G>A) n.688G>A c.997G>A (p.Asp333Asn) c.95G>A c.489G>A c.3187G>A (p.Asp1063Asn) | |
| 3 | g.4683411G>C | CA351650544 | ITPR1 | c.3160G>C (p.Asp1054His) c.3142G>C (p.Asp1048His) c.3115G>C (p.Asp1039His) c.996+29525G>C (n.996+29525G>C) n.688G>C c.997G>C (p.Asp333His) c.95G>C c.489G>C c.3187G>C (p.Asp1063His) | |
| 3 | g.4683411G>T | CA351650545 | ITPR1 | c.3160G>T (p.Asp1054Tyr) c.3142G>T (p.Asp1048Tyr) c.3115G>T (p.Asp1039Tyr) c.996+29525G>T (n.996+29525G>T) n.688G>T c.997G>T (p.Asp333Tyr) c.95G>T c.489G>T c.3187G>T (p.Asp1063Tyr) | |
| 3 | g.4683412A>C | CA351650546 | ITPR1 | c.3161A>C (p.Asp1054Ala) c.3143A>C (p.Asp1048Ala) c.3116A>C (p.Asp1039Ala) c.996+29526A>C (n.996+29526A>C) n.689A>C c.998A>C (p.Asp333Ala) c.96A>C c.490A>C c.3188A>C (p.Asp1063Ala) | |
| 3 | g.4683412A>G | CA351650547 | ITPR1 | c.3161A>G (p.Asp1054Gly) c.3143A>G (p.Asp1048Gly) c.3116A>G (p.Asp1039Gly) c.996+29526A>G (n.996+29526A>G) n.689A>G c.998A>G (p.Asp333Gly) c.96A>G c.490A>G c.3188A>G (p.Asp1063Gly) | |
| 3 | g.4683412A>T | CA351650548 | ITPR1 | c.3161A>T (p.Asp1054Val) c.3143A>T (p.Asp1048Val) c.3116A>T (p.Asp1039Val) c.996+29526A>T (n.996+29526A>T) n.689A>T c.998A>T (p.Asp333Val) c.96A>T c.490A>T c.3188A>T (p.Asp1063Val) | |
| 3 | g.4683413T>A | CA351650549 | ITPR1 | c.3162T>A (p.Asp1054Glu) c.3144T>A (p.Asp1048Glu) c.3117T>A (p.Asp1039Glu) c.996+29527T>A (n.996+29527T>A) n.690T>A c.999T>A (p.Asp333Glu) c.97T>A c.491T>A c.3189T>A (p.Asp1063Glu) | |
| 3 | g.4683413T>C | CA432321220 | ITPR1 | c.3162T>C (p.Asp1054=) c.3144T>C (p.Asp1048=) c.3117T>C (p.Asp1039=) c.996+29527T>C (n.996+29527T>C) n.690T>C c.999T>C (p.Asp333=) c.97T>C c.491T>C c.3189T>C (p.Asp1063=) | |
| 3 | g.4683413T>G | CA351650550 | ITPR1 | c.3162T>G (p.Asp1054Glu) c.3144T>G (p.Asp1048Glu) c.3117T>G (p.Asp1039Glu) c.996+29527T>G (n.996+29527T>G) n.690T>G c.999T>G (p.Asp333Glu) c.97T>G c.491T>G c.3189T>G (p.Asp1063Glu) | |
| 3 | g.4683414G>A | CA2231622 | ITPR1 | c.3163G>A (p.Asp1055Asn) c.3145G>A (p.Asp1049Asn) c.3118G>A (p.Asp1040Asn) c.996+29528G>A (n.996+29528G>A) n.691G>A c.1000G>A (p.Asp334Asn) c.98G>A c.492G>A c.3190G>A (p.Asp1064Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4683414G>C | CA351650552 | ITPR1 | c.3163G>C (p.Asp1055His) c.3145G>C (p.Asp1049His) c.3118G>C (p.Asp1040His) c.996+29528G>C (n.996+29528G>C) n.691G>C c.1000G>C (p.Asp334His) c.98G>C c.492G>C c.3190G>C (p.Asp1064His) | |
| 3 | g.4683414G= | CA1342287159 | ITPR1 | c.3163G= (p.Asp1055=) c.3145G= (p.Asp1049=) c.3118G= (p.Asp1040=) c.996+29528G= (n.996+29528G=) n.691G= c.1000G= (p.Asp334=) c.98G= c.492G= c.3190G= (p.Asp1064=) | |
| 3 | g.4683414G>T | CA351650551 | ITPR1 | c.3163G>T (p.Asp1055Tyr) c.3145G>T (p.Asp1049Tyr) c.3118G>T (p.Asp1040Tyr) c.996+29528G>T (n.996+29528G>T) n.691G>T c.1000G>T (p.Asp334Tyr) c.98G>T c.492G>T c.3190G>T (p.Asp1064Tyr) | |
| 3 | g.4683415A>C | CA351650553 | ITPR1 | c.3164A>C (p.Asp1055Ala) c.3146A>C (p.Asp1049Ala) c.3119A>C (p.Asp1040Ala) c.996+29529A>C (n.996+29529A>C) n.692A>C c.1001A>C (p.Asp334Ala) c.99A>C c.493A>C c.3191A>C (p.Asp1064Ala) | gnomAD v4 |
| 3 | g.4683415A>G | CA351650554 | ITPR1 | c.3164A>G (p.Asp1055Gly) c.3146A>G (p.Asp1049Gly) c.3119A>G (p.Asp1040Gly) c.996+29529A>G (n.996+29529A>G) n.692A>G c.1001A>G (p.Asp334Gly) c.99A>G c.493A>G c.3191A>G (p.Asp1064Gly) | gnomAD v4 |
| 3 | g.4683415A>T | CA351650555 | ITPR1 | c.3164A>T (p.Asp1055Val) c.3146A>T (p.Asp1049Val) c.3119A>T (p.Asp1040Val) c.996+29529A>T (n.996+29529A>T) n.692A>T c.1001A>T (p.Asp334Val) c.99A>T c.493A>T c.3191A>T (p.Asp1064Val) | |
| 3 | g.4683416C>A | CA351650556 | ITPR1 | c.3165C>A (p.Asp1055Glu) c.3147C>A (p.Asp1049Glu) c.3120C>A (p.Asp1040Glu) c.996+29530C>A (n.996+29530C>A) n.693C>A c.1002C>A (p.Asp334Glu) c.100C>A c.494C>A c.3192C>A (p.Asp1064Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4683416C= | CA1342287163 | ITPR1 | c.3165C= (p.Asp1055=) c.3147C= (p.Asp1049=) c.3120C= (p.Asp1040=) c.996+29530C= (n.996+29530C=) n.693C= c.1002C= (p.Asp334=) c.100C= c.494C= c.3192C= (p.Asp1064=) | |
| 3 | g.4683416C>G | CA351650557 | ITPR1 | c.3165C>G (p.Asp1055Glu) c.3147C>G (p.Asp1049Glu) c.3120C>G (p.Asp1040Glu) c.996+29530C>G (n.996+29530C>G) n.693C>G c.1002C>G (p.Asp334Glu) c.100C>G c.494C>G c.3192C>G (p.Asp1064Glu) | |
| 3 | g.4683416C>T | CA432321240 | ITPR1 | c.3165C>T (p.Asp1055=) c.3147C>T (p.Asp1049=) c.3120C>T (p.Asp1040=) c.996+29530C>T (n.996+29530C>T) n.693C>T c.1002C>T (p.Asp334=) c.100C>T c.494C>T c.3192C>T (p.Asp1064=) | |
| 3 | g.4683417C>A | CA351650558 | ITPR1 | c.3166C>A (p.His1056Asn) c.3148C>A (p.His1050Asn) c.3121C>A (p.His1041Asn) c.996+29531C>A (n.996+29531C>A) n.694C>A c.1003C>A (p.His335Asn) c.101C>A c.495C>A c.3193C>A (p.His1065Asn) | |
| 3 | g.4683417C= | CA1342287167 | ITPR1 | c.3166C= (p.His1056=) c.3148C= (p.His1050=) c.3121C= (p.His1041=) c.996+29531C= (n.996+29531C=) n.694C= c.1003C= (p.His335=) c.101C= c.495C= c.3193C= (p.His1065=) | |
| 3 | g.4683417C>G | CA351650559 | ITPR1 | c.3166C>G (p.His1056Asp) c.3148C>G (p.His1050Asp) c.3121C>G (p.His1041Asp) c.996+29531C>G (n.996+29531C>G) n.694C>G c.1003C>G (p.His335Asp) c.101C>G c.495C>G c.3193C>G (p.His1065Asp) | |
| 3 | g.4683417C>T | CA351650560 | ITPR1 | c.3166C>T (p.His1056Tyr) c.3148C>T (p.His1050Tyr) c.3121C>T (p.His1041Tyr) c.996+29531C>T (n.996+29531C>T) n.694C>T c.1003C>T (p.His335Tyr) c.101C>T c.495C>T c.3193C>T (p.His1065Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4683418A>C | CA351650561 | ITPR1 | c.3167A>C (p.His1056Pro) c.3149A>C (p.His1050Pro) c.3122A>C (p.His1041Pro) c.996+29532A>C (n.996+29532A>C) n.695A>C c.1004A>C (p.His335Pro) c.102A>C c.496A>C c.3194A>C (p.His1065Pro) | |
| 3 | g.4683418A>G | CA351650562 | ITPR1 | c.3167A>G (p.His1056Arg) c.3149A>G (p.His1050Arg) c.3122A>G (p.His1041Arg) c.996+29532A>G (n.996+29532A>G) n.695A>G c.1004A>G (p.His335Arg) c.102A>G c.496A>G c.3194A>G (p.His1065Arg) | |
| 3 | g.4683418A>T | CA351650563 | ITPR1 | c.3167A>T (p.His1056Leu) c.3149A>T (p.His1050Leu) c.3122A>T (p.His1041Leu) c.996+29532A>T (n.996+29532A>T) n.695A>T c.1004A>T (p.His335Leu) c.102A>T c.496A>T c.3194A>T (p.His1065Leu) | |
| 3 | g.4683419C>A | CA351650564 | ITPR1 | c.3168C>A (p.His1056Gln) c.3150C>A (p.His1050Gln) c.3123C>A (p.His1041Gln) c.996+29533C>A (n.996+29533C>A) n.696C>A c.1005C>A (p.His335Gln) c.103C>A c.497C>A c.3195C>A (p.His1065Gln) | |
| 3 | g.4683419C= | CA1342287171 | ITPR1 | c.3168C= (p.His1056=) c.3150C= (p.His1050=) c.3123C= (p.His1041=) c.996+29533C= (n.996+29533C=) n.696C= c.1005C= (p.His335=) c.103C= c.497C= c.3195C= (p.His1065=) | |
| 3 | g.4683419C>G | CA351650565 | ITPR1 | c.3168C>G (p.His1056Gln) c.3150C>G (p.His1050Gln) c.3123C>G (p.His1041Gln) c.996+29533C>G (n.996+29533C>G) n.696C>G c.1005C>G (p.His335Gln) c.103C>G c.497C>G c.3195C>G (p.His1065Gln) | |
| 3 | g.4683419C>T | CA2231623 | ITPR1 | c.3168C>T (p.His1056=) c.3150C>T (p.His1050=) c.3123C>T (p.His1041=) c.996+29533C>T (n.996+29533C>T) n.696C>T c.1005C>T (p.His335=) c.103C>T c.497C>T c.3195C>T (p.His1065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683420G>A | CA351650566 | ITPR1 | c.3169G>A (p.Gly1057Ser) c.3151G>A (p.Gly1051Ser) c.3124G>A (p.Gly1042Ser) c.996+29534G>A (n.996+29534G>A) n.697G>A c.1006G>A (p.Gly336Ser) c.104G>A c.498G>A c.3196G>A (p.Gly1066Ser) | dbSNP gnomAD v2 |
| 3 | g.4683420G>C | CA351650567 | ITPR1 | c.3169G>C (p.Gly1057Arg) c.3151G>C (p.Gly1051Arg) c.3124G>C (p.Gly1042Arg) c.996+29534G>C (n.996+29534G>C) n.697G>C c.1006G>C (p.Gly336Arg) c.104G>C c.498G>C c.3196G>C (p.Gly1066Arg) | |
| 3 | g.4683420G= | CA1342287175 | ITPR1 | c.3169G= (p.Gly1057=) c.3151G= (p.Gly1051=) c.3124G= (p.Gly1042=) c.996+29534G= (n.996+29534G=) n.697G= c.1006G= (p.Gly336=) c.104G= c.498G= c.3196G= (p.Gly1066=) | |
| 3 | g.4683420G>T | CA351650568 | ITPR1 | c.3169G>T (p.Gly1057Cys) c.3151G>T (p.Gly1051Cys) c.3124G>T (p.Gly1042Cys) c.996+29534G>T (n.996+29534G>T) n.697G>T c.1006G>T (p.Gly336Cys) c.104G>T c.498G>T c.3196G>T (p.Gly1066Cys) | |
| 3 | g.4683421G>A | CA351650569 | ITPR1 | c.3170G>A (p.Gly1057Asp) c.3152G>A (p.Gly1051Asp) c.3125G>A (p.Gly1042Asp) c.996+29535G>A (n.996+29535G>A) n.698G>A c.1007G>A (p.Gly336Asp) c.105G>A c.499G>A c.3197G>A (p.Gly1066Asp) | COSMIC COSMIC COSMIC |
| 3 | g.4683421G>C | CA351650570 | ITPR1 | c.3170G>C (p.Gly1057Ala) c.3152G>C (p.Gly1051Ala) c.3125G>C (p.Gly1042Ala) c.996+29535G>C (n.996+29535G>C) n.698G>C c.1007G>C (p.Gly336Ala) c.105G>C c.499G>C c.3197G>C (p.Gly1066Ala) | |
| 3 | g.4683421G>T | CA351650571 | ITPR1 | c.3170G>T (p.Gly1057Val) c.3152G>T (p.Gly1051Val) c.3125G>T (p.Gly1042Val) c.996+29535G>T (n.996+29535G>T) n.698G>T c.1007G>T (p.Gly336Val) c.105G>T c.499G>T c.3197G>T (p.Gly1066Val) | |
| 3 | g.4683422C>A | CA432321262 | ITPR1 | c.3171C>A (p.Gly1057=) c.3153C>A (p.Gly1051=) c.3126C>A (p.Gly1042=) c.996+29536C>A (n.996+29536C>A) n.699C>A c.1008C>A (p.Gly336=) c.106C>A c.500C>A c.3198C>A (p.Gly1066=) | |
| 3 | g.4683422C= | CA1342287179 | ITPR1 | c.3171C= (p.Gly1057=) c.3153C= (p.Gly1051=) c.3126C= (p.Gly1042=) c.996+29536C= (n.996+29536C=) n.699C= c.1008C= (p.Gly336=) c.106C= c.500C= c.3198C= (p.Gly1066=) | |
| 3 | g.4683422C>G | CA432321259 | ITPR1 | c.3171C>G (p.Gly1057=) c.3153C>G (p.Gly1051=) c.3126C>G (p.Gly1042=) c.996+29536C>G (n.996+29536C>G) n.699C>G c.1008C>G (p.Gly336=) c.106C>G c.500C>G c.3198C>G (p.Gly1066=) | |
| 3 | g.4683422C>T | CA2231624 | ITPR1 | c.3171C>T (p.Gly1057=) c.3153C>T (p.Gly1051=) c.3126C>T (p.Gly1042=) c.996+29536C>T (n.996+29536C>T) n.699C>T c.1008C>T (p.Gly336=) c.106C>T c.500C>T c.3198C>T (p.Gly1066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683423G>A | CA2231625 | ITPR1 | c.3172G>A (p.Gly1058Ser) c.3154G>A (p.Gly1052Ser) c.3127G>A (p.Gly1043Ser) c.996+29537G>A (n.996+29537G>A) n.700G>A c.1009G>A (p.Gly337Ser) c.107G>A c.501G>A c.3199G>A (p.Gly1067Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683423G>C | CA351650572 | ITPR1 | c.3172G>C (p.Gly1058Arg) c.3154G>C (p.Gly1052Arg) c.3127G>C (p.Gly1043Arg) c.996+29537G>C (n.996+29537G>C) n.700G>C c.1009G>C (p.Gly337Arg) c.107G>C c.501G>C c.3199G>C (p.Gly1067Arg) | |
| 3 | g.4683423G= | CA1342287183 | ITPR1 | c.3172G= (p.Gly1058=) c.3154G= (p.Gly1052=) c.3127G= (p.Gly1043=) c.996+29537G= (n.996+29537G=) n.700G= c.1009G= (p.Gly337=) c.107G= c.501G= c.3199G= (p.Gly1067=) | |
| 3 | g.4683423G>T | CA351650573 | ITPR1 | c.3172G>T (p.Gly1058Cys) c.3154G>T (p.Gly1052Cys) c.3127G>T (p.Gly1043Cys) c.996+29537G>T (n.996+29537G>T) n.700G>T c.1009G>T (p.Gly337Cys) c.107G>T c.501G>T c.3199G>T (p.Gly1067Cys) | |
| 3 | g.4683424G>A | CA351650574 | ITPR1 | c.3173G>A (p.Gly1058Asp) c.3155G>A (p.Gly1052Asp) c.3128G>A (p.Gly1043Asp) c.996+29538G>A (n.996+29538G>A) n.701G>A c.1010G>A (p.Gly337Asp) c.108G>A c.502G>A c.3200G>A (p.Gly1067Asp) | |
| 3 | g.4683424G>C | CA351650575 | ITPR1 | c.3173G>C (p.Gly1058Ala) c.3155G>C (p.Gly1052Ala) c.3128G>C (p.Gly1043Ala) c.996+29538G>C (n.996+29538G>C) n.701G>C c.1010G>C (p.Gly337Ala) c.108G>C c.502G>C c.3200G>C (p.Gly1067Ala) | |
| 3 | g.4683424G>T | CA351650576 | ITPR1 | c.3173G>T (p.Gly1058Val) c.3155G>T (p.Gly1052Val) c.3128G>T (p.Gly1043Val) c.996+29538G>T (n.996+29538G>T) n.701G>T c.1010G>T (p.Gly337Val) c.108G>T c.502G>T c.3200G>T (p.Gly1067Val) | |
| 3 | g.4683425C>A | CA432321269 | ITPR1 | c.3174C>A (p.Gly1058=) c.3156C>A (p.Gly1052=) c.3129C>A (p.Gly1043=) c.996+29539C>A (n.996+29539C>A) n.702C>A c.1011C>A (p.Gly337=) c.109C>A c.503C>A c.3201C>A (p.Gly1067=) | |
| 3 | g.4683425C>G | CA432321271 | ITPR1 | c.3174C>G (p.Gly1058=) c.3156C>G (p.Gly1052=) c.3129C>G (p.Gly1043=) c.996+29539C>G (n.996+29539C>G) n.702C>G c.1011C>G (p.Gly337=) c.109C>G c.503C>G c.3201C>G (p.Gly1067=) | |
| 3 | g.4683425C>T | CA432321272 | ITPR1 | c.3174C>T (p.Gly1058=) c.3156C>T (p.Gly1052=) c.3129C>T (p.Gly1043=) c.996+29539C>T (n.996+29539C>T) n.702C>T c.1011C>T (p.Gly337=) c.109C>T c.503C>T c.3201C>T (p.Gly1067=) | |
| 3 | g.4683426A>C | CA432321274 | ITPR1 | c.3175A>C (p.Arg1059=) c.3157A>C (p.Arg1053=) c.3130A>C (p.Arg1044=) c.996+29540A>C (n.996+29540A>C) n.703A>C c.1012A>C (p.Arg338=) c.110A>C c.504A>C c.3202A>C (p.Arg1068=) | |
| 3 | g.4683426A>G | CA351650578 | ITPR1 | c.3175A>G (p.Arg1059Gly) c.3157A>G (p.Arg1053Gly) c.3130A>G (p.Arg1044Gly) c.996+29540A>G (n.996+29540A>G) n.703A>G c.1012A>G (p.Arg338Gly) c.110A>G c.504A>G c.3202A>G (p.Arg1068Gly) | |
| 3 | g.4683426A>T | CA351650577 | ITPR1 | c.3175A>T (p.Arg1059Ter) c.3157A>T (p.Arg1053Ter) c.3130A>T (p.Arg1044Ter) c.996+29540A>T (n.996+29540A>T) n.703A>T c.1012A>T (p.Arg338Ter) c.110A>T c.504A>T c.3202A>T (p.Arg1068Ter) | |
| 3 | g.4683427G>A | CA351650579 | ITPR1 | c.3176G>A (p.Arg1059Lys) c.3158G>A (p.Arg1053Lys) c.3131G>A (p.Arg1044Lys) c.996+29541G>A (n.996+29541G>A) n.704G>A c.1013G>A (p.Arg338Lys) c.111G>A c.505G>A c.3203G>A (p.Arg1068Lys) | |
| 3 | g.4683427G>C | CA351650580 | ITPR1 | c.3176G>C (p.Arg1059Thr) c.3158G>C (p.Arg1053Thr) c.3131G>C (p.Arg1044Thr) c.996+29541G>C (n.996+29541G>C) n.704G>C c.1013G>C (p.Arg338Thr) c.111G>C c.505G>C c.3203G>C (p.Arg1068Thr) | |
| 3 | g.4683427G>T | CA351650581 | ITPR1 | c.3176G>T (p.Arg1059Ile) c.3158G>T (p.Arg1053Ile) c.3131G>T (p.Arg1044Ile) c.996+29541G>T (n.996+29541G>T) n.704G>T c.1013G>T (p.Arg338Ile) c.111G>T c.505G>T c.3203G>T (p.Arg1068Ile) | |
| 3 | g.4683428A>C | CA351650582 | ITPR1 | c.3177A>C (p.Arg1059Ser) c.3159A>C (p.Arg1053Ser) c.3132A>C (p.Arg1044Ser) c.996+29542A>C (n.996+29542A>C) n.705A>C c.1014A>C (p.Arg338Ser) c.112A>C c.506A>C c.3204A>C (p.Arg1068Ser) | |
| 3 | g.4683428A>G | CA432321299 | ITPR1 | c.3177A>G (p.Arg1059=) c.3159A>G (p.Arg1053=) c.3132A>G (p.Arg1044=) c.996+29542A>G (n.996+29542A>G) n.705A>G c.1014A>G (p.Arg338=) c.112A>G c.506A>G c.3204A>G (p.Arg1068=) | |
| 3 | g.4683428A>T | CA351650584 | ITPR1 | c.3177A>T (p.Arg1059Ser) c.3159A>T (p.Arg1053Ser) c.3132A>T (p.Arg1044Ser) c.996+29542A>T (n.996+29542A>T) n.705A>T c.1014A>T (p.Arg338Ser) c.112A>T c.506A>T c.3204A>T (p.Arg1068Ser) | |
| 3 | g.4683429A>C | CA351650586 | ITPR1 | c.3178A>C (p.Thr1060Pro) c.3160A>C (p.Thr1054Pro) c.3133A>C (p.Thr1045Pro) c.996+29543A>C (n.996+29543A>C) n.706A>C c.1015A>C (p.Thr339Pro) c.113A>C c.507A>C c.3205A>C (p.Thr1069Pro) | |
| 3 | g.4683429A>G | CA351650587 | ITPR1 | c.3178A>G (p.Thr1060Ala) c.3160A>G (p.Thr1054Ala) c.3133A>G (p.Thr1045Ala) c.996+29543A>G (n.996+29543A>G) n.706A>G c.1015A>G (p.Thr339Ala) c.113A>G c.507A>G c.3205A>G (p.Thr1069Ala) | gnomAD v4 |
| 3 | g.4683429A>T | CA351650588 | ITPR1 | c.3178A>T (p.Thr1060Ser) c.3160A>T (p.Thr1054Ser) c.3133A>T (p.Thr1045Ser) c.996+29543A>T (n.996+29543A>T) n.706A>T c.1015A>T (p.Thr339Ser) c.113A>T c.507A>T c.3205A>T (p.Thr1069Ser) | |
| 3 | g.4683430C>A | CA351650589 | ITPR1 | c.3179C>A (p.Thr1060Asn) c.3161C>A (p.Thr1054Asn) c.3134C>A (p.Thr1045Asn) c.996+29544C>A (n.996+29544C>A) n.707C>A c.1016C>A (p.Thr339Asn) c.114C>A c.508C>A c.3206C>A (p.Thr1069Asn) | gnomAD v4 |
| 3 | g.4683430C= | CA1342287185 | ITPR1 | c.3179C= (p.Thr1060=) c.3161C= (p.Thr1054=) c.3134C= (p.Thr1045=) c.996+29544C= (n.996+29544C=) n.707C= c.1016C= (p.Thr339=) c.114C= c.508C= c.3206C= (p.Thr1069=) | |
| 3 | g.4683430C>G | CA351650590 | ITPR1 | c.3179C>G (p.Thr1060Ser) c.3161C>G (p.Thr1054Ser) c.3134C>G (p.Thr1045Ser) c.996+29544C>G (n.996+29544C>G) n.707C>G c.1016C>G (p.Thr339Ser) c.114C>G c.508C>G c.3206C>G (p.Thr1069Ser) | gnomAD v4 |
| 3 | g.4683430C>T | CA2231626 | ITPR1 | c.3179C>T (p.Thr1060Ile) c.3161C>T (p.Thr1054Ile) c.3134C>T (p.Thr1045Ile) c.996+29544C>T (n.996+29544C>T) n.707C>T c.1016C>T (p.Thr339Ile) c.114C>T c.508C>T c.3206C>T (p.Thr1069Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4683431C>A | CA2231628 | ITPR1 | c.3180C>A (p.Thr1060=) c.3162C>A (p.Thr1054=) c.3135C>A (p.Thr1045=) c.996+29545C>A (n.996+29545C>A) n.708C>A c.1017C>A (p.Thr339=) c.115C>A c.509C>A c.3207C>A (p.Thr1069=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683431C= | CA1342287193 | ITPR1 | c.3180C= (p.Thr1060=) c.3162C= (p.Thr1054=) c.3135C= (p.Thr1045=) c.996+29545C= (n.996+29545C=) n.708C= c.1017C= (p.Thr339=) c.115C= c.509C= c.3207C= (p.Thr1069=) | |
| 3 | g.4683431C>G | CA432321312 | ITPR1 | c.3180C>G (p.Thr1060=) c.3162C>G (p.Thr1054=) c.3135C>G (p.Thr1045=) c.996+29545C>G (n.996+29545C>G) n.708C>G c.1017C>G (p.Thr339=) c.115C>G c.509C>G c.3207C>G (p.Thr1069=) | gnomAD v4 |
| 3 | g.4683431C>T | CA2231627 | ITPR1 | c.3180C>T (p.Thr1060=) c.3162C>T (p.Thr1054=) c.3135C>T (p.Thr1045=) c.996+29545C>T (n.996+29545C>T) n.708C>T c.1017C>T (p.Thr339=) c.115C>T c.509C>T c.3207C>T (p.Thr1069=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683432T>A | CA351650592 | ITPR1 | c.3181T>A (p.Phe1061Ile) c.3163T>A (p.Phe1055Ile) c.3136T>A (p.Phe1046Ile) c.996+29546T>A (n.996+29546T>A) n.709T>A c.1018T>A (p.Phe340Ile) c.116T>A c.510T>A c.3208T>A (p.Phe1070Ile) | |
| 3 | g.4683432T>C | CA2231629 | ITPR1 | c.3181T>C (p.Phe1061Leu) c.3163T>C (p.Phe1055Leu) c.3136T>C (p.Phe1046Leu) c.996+29546T>C (n.996+29546T>C) n.709T>C c.1018T>C (p.Phe340Leu) c.116T>C c.510T>C c.3208T>C (p.Phe1070Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4683432T>G | CA351650591 | ITPR1 | c.3181T>G (p.Phe1061Val) c.3163T>G (p.Phe1055Val) c.3136T>G (p.Phe1046Val) c.996+29546T>G (n.996+29546T>G) n.709T>G c.1018T>G (p.Phe340Val) c.116T>G c.510T>G c.3208T>G (p.Phe1070Val) | |
| 3 | g.4683432T= | CA1342287195 | ITPR1 | c.3181T= (p.Phe1061=) c.3163T= (p.Phe1055=) c.3136T= (p.Phe1046=) c.996+29546T= (n.996+29546T=) n.709T= c.1018T= (p.Phe340=) c.116T= c.510T= c.3208T= (p.Phe1070=) | |
| 3 | g.4683433T>A | CA351650593 | ITPR1 | c.3182T>A (p.Phe1061Tyr) c.3164T>A (p.Phe1055Tyr) c.3137T>A (p.Phe1046Tyr) c.996+29547T>A (n.996+29547T>A) n.710T>A c.1019T>A (p.Phe340Tyr) c.117T>A c.511T>A c.3209T>A (p.Phe1070Tyr) | |
| 3 | g.4683433T>C | CA351650595 | ITPR1 | c.3182T>C (p.Phe1061Ser) c.3164T>C (p.Phe1055Ser) c.3137T>C (p.Phe1046Ser) c.996+29547T>C (n.996+29547T>C) n.710T>C c.1019T>C (p.Phe340Ser) c.117T>C c.511T>C c.3209T>C (p.Phe1070Ser) | |
| 3 | g.4683433T>G | CA351650594 | ITPR1 | c.3182T>G (p.Phe1061Cys) c.3164T>G (p.Phe1055Cys) c.3137T>G (p.Phe1046Cys) c.996+29547T>G (n.996+29547T>G) n.710T>G c.1019T>G (p.Phe340Cys) c.117T>G c.511T>G c.3209T>G (p.Phe1070Cys) | |
| 3 | g.4683434T>A | CA351650596 | ITPR1 | c.3183T>A (p.Phe1061Leu) c.3165T>A (p.Phe1055Leu) c.3138T>A (p.Phe1046Leu) c.996+29548T>A (n.996+29548T>A) n.711T>A c.1020T>A (p.Phe340Leu) c.118T>A c.512T>A c.3210T>A (p.Phe1070Leu) | |
| 3 | g.4683434T>C | CA432321321 | ITPR1 | c.3183T>C (p.Phe1061=) c.3165T>C (p.Phe1055=) c.3138T>C (p.Phe1046=) c.996+29548T>C (n.996+29548T>C) n.711T>C c.1020T>C (p.Phe340=) c.118T>C c.512T>C c.3210T>C (p.Phe1070=) | |
| 3 | g.4683434T>G | CA351650597 | ITPR1 | c.3183T>G (p.Phe1061Leu) c.3165T>G (p.Phe1055Leu) c.3138T>G (p.Phe1046Leu) c.996+29548T>G (n.996+29548T>G) n.711T>G c.1020T>G (p.Phe340Leu) c.118T>G c.512T>G c.3210T>G (p.Phe1070Leu) | |
| 3 | g.4683435C>A | CA351650598 | ITPR1 | c.3184C>A (p.Leu1062Ile) c.3166C>A (p.Leu1056Ile) c.3139C>A (p.Leu1047Ile) c.996+29549C>A (n.996+29549C>A) n.712C>A c.1021C>A (p.Leu341Ile) c.119C>A c.513C>A c.3211C>A (p.Leu1071Ile) | |
| 3 | g.4683435C>G | CA351650599 | ITPR1 | c.3184C>G (p.Leu1062Val) c.3166C>G (p.Leu1056Val) c.3139C>G (p.Leu1047Val) c.996+29549C>G (n.996+29549C>G) n.712C>G c.1021C>G (p.Leu341Val) c.119C>G c.513C>G c.3211C>G (p.Leu1071Val) | |
| 3 | g.4683435C>T | CA351650600 | ITPR1 | c.3184C>T (p.Leu1062Phe) c.3166C>T (p.Leu1056Phe) c.3139C>T (p.Leu1047Phe) c.996+29549C>T (n.996+29549C>T) n.712C>T c.1021C>T (p.Leu341Phe) c.119C>T c.513C>T c.3211C>T (p.Leu1071Phe) | |
| 3 | g.4683436T>A | CA351650601 | ITPR1 | c.3185T>A (p.Leu1062His) c.3167T>A (p.Leu1056His) c.3140T>A (p.Leu1047His) c.996+29550T>A (n.996+29550T>A) n.713T>A c.1022T>A (p.Leu341His) c.120T>A c.514T>A c.3212T>A (p.Leu1071His) | |
| 3 | g.4683436T>C | CA351650602 | ITPR1 | c.3185T>C (p.Leu1062Pro) c.3167T>C (p.Leu1056Pro) c.3140T>C (p.Leu1047Pro) c.996+29550T>C (n.996+29550T>C) n.713T>C c.1022T>C (p.Leu341Pro) c.120T>C c.514T>C c.3212T>C (p.Leu1071Pro) | |
| 3 | g.4683436T>G | CA351650603 | ITPR1 | c.3185T>G (p.Leu1062Arg) c.3167T>G (p.Leu1056Arg) c.3140T>G (p.Leu1047Arg) c.996+29550T>G (n.996+29550T>G) n.713T>G c.1022T>G (p.Leu341Arg) c.120T>G c.514T>G c.3212T>G (p.Leu1071Arg) | |
| 3 | g.4683437C>A | CA432321335 | ITPR1 | c.3186C>A (p.Leu1062=) c.3168C>A (p.Leu1056=) c.3141C>A (p.Leu1047=) c.996+29551C>A (n.996+29551C>A) n.714C>A c.1023C>A (p.Leu341=) c.121C>A c.515C>A c.3213C>A (p.Leu1071=) | |
| 3 | g.4683437C>G | CA432321337 | ITPR1 | c.3186C>G (p.Leu1062=) c.3168C>G (p.Leu1056=) c.3141C>G (p.Leu1047=) c.996+29551C>G (n.996+29551C>G) n.714C>G c.1023C>G (p.Leu341=) c.121C>G c.515C>G c.3213C>G (p.Leu1071=) | |
| 3 | g.4683437C>T | CA432321340 | ITPR1 | c.3186C>T (p.Leu1062=) c.3168C>T (p.Leu1056=) c.3141C>T (p.Leu1047=) c.996+29551C>T (n.996+29551C>T) n.714C>T c.1023C>T (p.Leu341=) c.121C>T c.515C>T c.3213C>T (p.Leu1071=) | gnomAD v4 |
| 3 | g.4683438C>A | CA351650604 | ITPR1 | c.3187C>A (p.Arg1063Ser) c.3169C>A (p.Arg1057Ser) c.3142C>A (p.Arg1048Ser) c.996+29552C>A (n.996+29552C>A) n.715C>A c.1024C>A (p.Arg342Ser) c.122C>A c.516C>A c.3214C>A (p.Arg1072Ser) | |
| 3 | g.4683438C>G | CA351650605 | ITPR1 | c.3187C>G (p.Arg1063Gly) c.3169C>G (p.Arg1057Gly) c.3142C>G (p.Arg1048Gly) c.996+29552C>G (n.996+29552C>G) n.715C>G c.1024C>G (p.Arg342Gly) c.122C>G c.516C>G c.3214C>G (p.Arg1072Gly) | |
| 3 | g.4683438C>T | CA351650606 | ITPR1 | c.3187C>T (p.Arg1063Cys) c.3169C>T (p.Arg1057Cys) c.3142C>T (p.Arg1048Cys) c.996+29552C>T (n.996+29552C>T) n.715C>T c.1024C>T (p.Arg342Cys) c.122C>T c.516C>T c.3214C>T (p.Arg1072Cys) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.4683439G>A | CA351650609 | ITPR1 | c.3188G>A (p.Arg1063His) c.3170G>A (p.Arg1057His) c.3143G>A (p.Arg1048His) c.996+29553G>A (n.996+29553G>A) n.716G>A c.1025G>A (p.Arg342His) c.123G>A c.517G>A c.3215G>A (p.Arg1072His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.4683439G>C | CA351650607 | ITPR1 | c.3188G>C (p.Arg1063Pro) c.3170G>C (p.Arg1057Pro) c.3143G>C (p.Arg1048Pro) c.996+29553G>C (n.996+29553G>C) n.716G>C c.1025G>C (p.Arg342Pro) c.123G>C c.517G>C c.3215G>C (p.Arg1072Pro) | |
| 3 | g.4683439G= | CA1342287202 | ITPR1 | c.3188G= (p.Arg1063=) c.3170G= (p.Arg1057=) c.3143G= (p.Arg1048=) c.996+29553G= (n.996+29553G=) n.716G= c.1025G= (p.Arg342=) c.123G= c.517G= c.3215G= (p.Arg1072=) | |
| 3 | g.4683439G>T | CA351650608 | ITPR1 | c.3188G>T (p.Arg1063Leu) c.3170G>T (p.Arg1057Leu) c.3143G>T (p.Arg1048Leu) c.996+29553G>T (n.996+29553G>T) n.716G>T c.1025G>T (p.Arg342Leu) c.123G>T c.517G>T c.3215G>T (p.Arg1072Leu) | gnomAD v4 |
| 3 | g.4683440T>A | CA432321350 | ITPR1 | c.3189T>A (p.Arg1063=) c.3171T>A (p.Arg1057=) c.3144T>A (p.Arg1048=) c.996+29554T>A (n.996+29554T>A) n.717T>A c.1026T>A (p.Arg342=) c.124T>A c.518T>A c.3216T>A (p.Arg1072=) | |
| 3 | g.4683440T>C | CA432321352 | ITPR1 | c.3189T>C (p.Arg1063=) c.3171T>C (p.Arg1057=) c.3144T>C (p.Arg1048=) c.996+29554T>C (n.996+29554T>C) n.717T>C c.1026T>C (p.Arg342=) c.124T>C c.518T>C c.3216T>C (p.Arg1072=) | dbSNP |
| 3 | g.4683440T>G | CA432321353 | ITPR1 | c.3189T>G (p.Arg1063=) c.3171T>G (p.Arg1057=) c.3144T>G (p.Arg1048=) c.996+29554T>G (n.996+29554T>G) n.717T>G c.1026T>G (p.Arg342=) c.124T>G c.518T>G c.3216T>G (p.Arg1072=) | dbSNP gnomAD v4 |
| 3 | g.4683440T= | CA1342287206 | ITPR1 | c.3189T= (p.Arg1063=) c.3171T= (p.Arg1057=) c.3144T= (p.Arg1048=) c.996+29554T= (n.996+29554T=) n.717T= c.1026T= (p.Arg342=) c.124T= c.518T= c.3216T= (p.Arg1072=) | |
| 3 | g.4683441G>A | CA351650610 | ITPR1 | c.3190G>A (p.Val1064Ile) c.3172G>A (p.Val1058Ile) c.3145G>A (p.Val1049Ile) c.996+29555G>A (n.996+29555G>A) n.718G>A c.1027G>A (p.Val343Ile) c.125G>A c.519G>A c.3217G>A (p.Val1073Ile) | |
| 3 | g.4683441G>C | CA351650611 | ITPR1 | c.3190G>C (p.Val1064Leu) c.3172G>C (p.Val1058Leu) c.3145G>C (p.Val1049Leu) c.996+29555G>C (n.996+29555G>C) n.718G>C c.1027G>C (p.Val343Leu) c.125G>C c.519G>C c.3217G>C (p.Val1073Leu) | |
| 3 | g.4683441G>T | CA351650612 | ITPR1 | c.3190G>T (p.Val1064Phe) c.3172G>T (p.Val1058Phe) c.3145G>T (p.Val1049Phe) c.996+29555G>T (n.996+29555G>T) n.718G>T c.1027G>T (p.Val343Phe) c.125G>T c.519G>T c.3217G>T (p.Val1073Phe) | |
| 3 | g.4683442T>A | CA351650613 | ITPR1 | c.3191T>A (p.Val1064Asp) c.3173T>A (p.Val1058Asp) c.3146T>A (p.Val1049Asp) c.996+29556T>A (n.996+29556T>A) n.719T>A c.1028T>A (p.Val343Asp) c.126T>A c.520T>A c.3218T>A (p.Val1073Asp) | |
| 3 | g.4683442T>C | CA351650614 | ITPR1 | c.3191T>C (p.Val1064Ala) c.3173T>C (p.Val1058Ala) c.3146T>C (p.Val1049Ala) c.996+29556T>C (n.996+29556T>C) n.719T>C c.1028T>C (p.Val343Ala) c.126T>C c.520T>C c.3218T>C (p.Val1073Ala) | |
| 3 | g.4683442T>G | CA351650615 | ITPR1 | c.3191T>G (p.Val1064Gly) c.3173T>G (p.Val1058Gly) c.3146T>G (p.Val1049Gly) c.996+29556T>G (n.996+29556T>G) n.719T>G c.1028T>G (p.Val343Gly) c.126T>G c.520T>G c.3218T>G (p.Val1073Gly) | |
| 3 | g.4683443C>A | CA432321372 | ITPR1 | c.3192C>A (p.Val1064=) c.3174C>A (p.Val1058=) c.3147C>A (p.Val1049=) c.996+29557C>A (n.996+29557C>A) n.720C>A c.1029C>A (p.Val343=) c.127C>A c.521C>A c.3219C>A (p.Val1073=) | |
| 3 | g.4683443C>G | CA432321371 | ITPR1 | c.3192C>G (p.Val1064=) c.3174C>G (p.Val1058=) c.3147C>G (p.Val1049=) c.996+29557C>G (n.996+29557C>G) n.720C>G c.1029C>G (p.Val343=) c.127C>G c.521C>G c.3219C>G (p.Val1073=) | |
| 3 | g.4683443C>T | CA432321368 | ITPR1 | c.3192C>T (p.Val1064=) c.3174C>T (p.Val1058=) c.3147C>T (p.Val1049=) c.996+29557C>T (n.996+29557C>T) n.720C>T c.1029C>T (p.Val343=) c.127C>T c.521C>T c.3219C>T (p.Val1073=) | |
| 3 | g.4683444C>A | CA351650616 | ITPR1 | c.3193C>A (p.Leu1065Met) c.3175C>A (p.Leu1059Met) c.3148C>A (p.Leu1050Met) c.996+29558C>A (n.996+29558C>A) n.721C>A c.1030C>A (p.Leu344Met) c.128C>A c.522C>A c.3220C>A (p.Leu1074Met) | |
| 3 | g.4683444C>G | CA351650617 | ITPR1 | c.3193C>G (p.Leu1065Val) c.3175C>G (p.Leu1059Val) c.3148C>G (p.Leu1050Val) c.996+29558C>G (n.996+29558C>G) n.721C>G c.1030C>G (p.Leu344Val) c.128C>G c.522C>G c.3220C>G (p.Leu1074Val) | |
| 3 | g.4683444C>T | CA432321377 | ITPR1 | c.3193C>T (p.Leu1065=) c.3175C>T (p.Leu1059=) c.3148C>T (p.Leu1050=) c.996+29558C>T (n.996+29558C>T) n.721C>T c.1030C>T (p.Leu344=) c.128C>T c.522C>T c.3220C>T (p.Leu1074=) | dbSNP gnomAD v4 |
| 3 | g.4683445T>A | CA351650618 | ITPR1 | c.3194T>A (p.Leu1065Gln) c.3176T>A (p.Leu1059Gln) c.3149T>A (p.Leu1050Gln) c.996+29559T>A (n.996+29559T>A) n.722T>A c.1031T>A (p.Leu344Gln) c.129T>A c.523T>A c.3221T>A (p.Leu1074Gln) | |
| 3 | g.4683445T>C | CA351650619 | ITPR1 | c.3194T>C (p.Leu1065Pro) c.3176T>C (p.Leu1059Pro) c.3149T>C (p.Leu1050Pro) c.996+29559T>C (n.996+29559T>C) n.722T>C c.1031T>C (p.Leu344Pro) c.129T>C c.523T>C c.3221T>C (p.Leu1074Pro) | |
| 3 | g.4683445T>G | CA351650620 | ITPR1 | c.3194T>G (p.Leu1065Arg) c.3176T>G (p.Leu1059Arg) c.3149T>G (p.Leu1050Arg) c.996+29559T>G (n.996+29559T>G) n.722T>G c.1031T>G (p.Leu344Arg) c.129T>G c.523T>G c.3221T>G (p.Leu1074Arg) | |
| 3 | g.4683446G>A | CA432321381 | ITPR1 | c.3195G>A (p.Leu1065=) c.3177G>A (p.Leu1059=) c.3150G>A (p.Leu1050=) c.996+29560G>A (n.996+29560G>A) n.723G>A c.1032G>A (p.Leu344=) c.130G>A c.524G>A c.3222G>A (p.Leu1074=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683446G>C | CA432321383 | ITPR1 | c.3195G>C (p.Leu1065=) c.3177G>C (p.Leu1059=) c.3150G>C (p.Leu1050=) c.996+29560G>C (n.996+29560G>C) n.723G>C c.1032G>C (p.Leu344=) c.130G>C c.524G>C c.3222G>C (p.Leu1074=) | |
| 3 | g.4683446G= | CA1342287208 | ITPR1 | c.3195G= (p.Leu1065=) c.3177G= (p.Leu1059=) c.3150G= (p.Leu1050=) c.996+29560G= (n.996+29560G=) n.723G= c.1032G= (p.Leu344=) c.130G= c.524G= c.3222G= (p.Leu1074=) | |
| 3 | g.4683446G>T | CA432321385 | ITPR1 | c.3195G>T (p.Leu1065=) c.3177G>T (p.Leu1059=) c.3150G>T (p.Leu1050=) c.996+29560G>T (n.996+29560G>T) n.723G>T c.1032G>T (p.Leu344=) c.130G>T c.524G>T c.3222G>T (p.Leu1074=) | |
| 3 | g.4683447C>A | CA351650622 | ITPR1 | c.3196C>A (p.Leu1066Ile) c.3178C>A (p.Leu1060Ile) c.3151C>A (p.Leu1051Ile) c.996+29561C>A (n.996+29561C>A) n.724C>A c.1033C>A (p.Leu345Ile) c.131C>A c.525C>A c.3223C>A (p.Leu1075Ile) | |
| 3 | g.4683447C= | CA1342287211 | ITPR1 | c.3196C= (p.Leu1066=) c.3178C= (p.Leu1060=) c.3151C= (p.Leu1051=) c.996+29561C= (n.996+29561C=) n.724C= c.1033C= (p.Leu345=) c.131C= c.525C= c.3223C= (p.Leu1075=) | |
| 3 | g.4683447C>G | CA351650623 | ITPR1 | c.3196C>G (p.Leu1066Val) c.3178C>G (p.Leu1060Val) c.3151C>G (p.Leu1051Val) c.996+29561C>G (n.996+29561C>G) n.724C>G c.1033C>G (p.Leu345Val) c.131C>G c.525C>G c.3223C>G (p.Leu1075Val) | gnomAD v4 |
| 3 | g.4683447C>T | CA351650621 | ITPR1 | c.3196C>T (p.Leu1066Phe) c.3178C>T (p.Leu1060Phe) c.3151C>T (p.Leu1051Phe) c.996+29561C>T (n.996+29561C>T) n.724C>T c.1033C>T (p.Leu345Phe) c.131C>T c.525C>T c.3223C>T (p.Leu1075Phe) | dbSNP |
| 3 | g.4683448T>A | CA351650624 | ITPR1 | c.3197T>A (p.Leu1066His) c.3179T>A (p.Leu1060His) c.3152T>A (p.Leu1051His) c.996+29562T>A (n.996+29562T>A) n.725T>A c.1034T>A (p.Leu345His) c.132T>A c.526T>A c.3224T>A (p.Leu1075His) | |
| 3 | g.4683448T>C | CA351650625 | ITPR1 | c.3197T>C (p.Leu1066Pro) c.3179T>C (p.Leu1060Pro) c.3152T>C (p.Leu1051Pro) c.996+29562T>C (n.996+29562T>C) n.725T>C c.1034T>C (p.Leu345Pro) c.132T>C c.526T>C c.3224T>C (p.Leu1075Pro) | |
| 3 | g.4683448T>G | CA351650626 | ITPR1 | c.3197T>G (p.Leu1066Arg) c.3179T>G (p.Leu1060Arg) c.3152T>G (p.Leu1051Arg) c.996+29562T>G (n.996+29562T>G) n.725T>G c.1034T>G (p.Leu345Arg) c.132T>G c.526T>G c.3224T>G (p.Leu1075Arg) | |
| 3 | g.4683449C>A | CA432321394 | ITPR1 | c.3198C>A (p.Leu1066=) c.3180C>A (p.Leu1060=) c.3153C>A (p.Leu1051=) c.996+29563C>A (n.996+29563C>A) n.726C>A c.1035C>A (p.Leu345=) c.133C>A c.527C>A c.3225C>A (p.Leu1075=) | |
| 3 | g.4683449C>G | CA432321398 | ITPR1 | c.3198C>G (p.Leu1066=) c.3180C>G (p.Leu1060=) c.3153C>G (p.Leu1051=) c.996+29563C>G (n.996+29563C>G) n.726C>G c.1035C>G (p.Leu345=) c.133C>G c.527C>G c.3225C>G (p.Leu1075=) | gnomAD v4 |
| 3 | g.4683449C>T | CA432321397 | ITPR1 | c.3198C>T (p.Leu1066=) c.3180C>T (p.Leu1060=) c.3153C>T (p.Leu1051=) c.996+29563C>T (n.996+29563C>T) n.726C>T c.1035C>T (p.Leu345=) c.133C>T c.527C>T c.3225C>T (p.Leu1075=) | |
| 3 | g.4683450C>A | CA351650627 | ITPR1 | c.3199C>A (p.His1067Asn) c.3181C>A (p.His1061Asn) c.3154C>A (p.His1052Asn) c.996+29564C>A (n.996+29564C>A) n.727C>A c.1036C>A (p.His346Asn) c.134C>A c.528C>A c.3226C>A (p.His1076Asn) | |
| 3 | g.4683450C>G | CA351650628 | ITPR1 | c.3199C>G (p.His1067Asp) c.3181C>G (p.His1061Asp) c.3154C>G (p.His1052Asp) c.996+29564C>G (n.996+29564C>G) n.727C>G c.1036C>G (p.His346Asp) c.134C>G c.528C>G c.3226C>G (p.His1076Asp) | |
| 3 | g.4683450C>T | CA351650629 | ITPR1 | c.3199C>T (p.His1067Tyr) c.3181C>T (p.His1061Tyr) c.3154C>T (p.His1052Tyr) c.996+29564C>T (n.996+29564C>T) n.727C>T c.1036C>T (p.His346Tyr) c.134C>T c.528C>T c.3226C>T (p.His1076Tyr) | |
| 3 | g.4683451A>C | CA351650632 | ITPR1 | c.3200A>C (p.His1067Pro) c.3182A>C (p.His1061Pro) c.3155A>C (p.His1052Pro) c.996+29565A>C (n.996+29565A>C) n.728A>C c.1037A>C (p.His346Pro) c.135A>C c.529A>C c.3227A>C (p.His1076Pro) | |
| 3 | g.4683451A>G | CA351650630 | ITPR1 | c.3200A>G (p.His1067Arg) c.3182A>G (p.His1061Arg) c.3155A>G (p.His1052Arg) c.996+29565A>G (n.996+29565A>G) n.728A>G c.1037A>G (p.His346Arg) c.135A>G c.529A>G c.3227A>G (p.His1076Arg) | |
| 3 | g.4683451A>T | CA351650631 | ITPR1 | c.3200A>T (p.His1067Leu) c.3182A>T (p.His1061Leu) c.3155A>T (p.His1052Leu) c.996+29565A>T (n.996+29565A>T) n.728A>T c.1037A>T (p.His346Leu) c.135A>T c.529A>T c.3227A>T (p.His1076Leu) | |
| 3 | g.4683452C>A | CA351650633 | ITPR1 | c.3201C>A (p.His1067Gln) c.3183C>A (p.His1061Gln) c.3156C>A (p.His1052Gln) c.996+29566C>A (n.996+29566C>A) n.729C>A c.1038C>A (p.His346Gln) c.136C>A c.530C>A c.3228C>A (p.His1076Gln) | |
| 3 | g.4683452C= | CA1342287215 | ITPR1 | c.3201C= (p.His1067=) c.3183C= (p.His1061=) c.3156C= (p.His1052=) c.996+29566C= (n.996+29566C=) n.729C= c.1038C= (p.His346=) c.136C= c.530C= c.3228C= (p.His1076=) | |
| 3 | g.4683452C>G | CA351650634 | ITPR1 | c.3201C>G (p.His1067Gln) c.3183C>G (p.His1061Gln) c.3156C>G (p.His1052Gln) c.996+29566C>G (n.996+29566C>G) n.729C>G c.1038C>G (p.His346Gln) c.136C>G c.530C>G c.3228C>G (p.His1076Gln) | gnomAD v4 |
| 3 | g.4683452C>T | CA2231630 | ITPR1 | c.3201C>T (p.His1067=) c.3183C>T (p.His1061=) c.3156C>T (p.His1052=) c.996+29566C>T (n.996+29566C>T) n.729C>T c.1038C>T (p.His346=) c.136C>T c.530C>T c.3228C>T (p.His1076=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683453T>A | CA351650635 | ITPR1 | c.3202T>A (p.Leu1068Met) c.3184T>A (p.Leu1062Met) c.3157T>A (p.Leu1053Met) c.996+29567T>A (n.996+29567T>A) n.730T>A c.1039T>A (p.Leu347Met) c.137T>A c.531T>A c.3229T>A (p.Leu1077Met) | |
| 3 | g.4683453T>C | CA432321424 | ITPR1 | c.3202T>C (p.Leu1068=) c.3184T>C (p.Leu1062=) c.3157T>C (p.Leu1053=) c.996+29567T>C (n.996+29567T>C) n.730T>C c.1039T>C (p.Leu347=) c.137T>C c.531T>C c.3229T>C (p.Leu1077=) | |
| 3 | g.4683453T>G | CA351650636 | ITPR1 | c.3202T>G (p.Leu1068Val) c.3184T>G (p.Leu1062Val) c.3157T>G (p.Leu1053Val) c.996+29567T>G (n.996+29567T>G) n.730T>G c.1039T>G (p.Leu347Val) c.137T>G c.531T>G c.3229T>G (p.Leu1077Val) | |
| 3 | g.4683454T>A | CA351650637 | ITPR1 | c.3203T>A (p.Leu1068Ter) c.3185T>A (p.Leu1062Ter) c.3158T>A (p.Leu1053Ter) c.996+29568T>A (n.996+29568T>A) n.731T>A c.1040T>A (p.Leu347Ter) c.138T>A c.532T>A c.3230T>A (p.Leu1077Ter) | |
| 3 | g.4683454T>C | CA351650639 | ITPR1 | c.3203T>C (p.Leu1068Ser) c.3185T>C (p.Leu1062Ser) c.3158T>C (p.Leu1053Ser) c.996+29568T>C (n.996+29568T>C) n.731T>C c.1040T>C (p.Leu347Ser) c.138T>C c.532T>C c.3230T>C (p.Leu1077Ser) | |
| 3 | g.4683454T>G | CA351650638 | ITPR1 | c.3203T>G (p.Leu1068Trp) c.3185T>G (p.Leu1062Trp) c.3158T>G (p.Leu1053Trp) c.996+29568T>G (n.996+29568T>G) n.731T>G c.1040T>G (p.Leu347Trp) c.138T>G c.532T>G c.3230T>G (p.Leu1077Trp) | |
| 3 | g.4683455G>A | CA432321433 | ITPR1 | c.3204G>A (p.Leu1068=) c.3186G>A (p.Leu1062=) c.3159G>A (p.Leu1053=) c.996+29569G>A (n.996+29569G>A) n.732G>A c.1041G>A (p.Leu347=) c.139G>A c.533G>A c.3231G>A (p.Leu1077=) | |
| 3 | g.4683455G>C | CA351650640 | ITPR1 | c.3204G>C (p.Leu1068Phe) c.3186G>C (p.Leu1062Phe) c.3159G>C (p.Leu1053Phe) c.996+29569G>C (n.996+29569G>C) n.732G>C c.1041G>C (p.Leu347Phe) c.139G>C c.533G>C c.3231G>C (p.Leu1077Phe) | |
| 3 | g.4683455G>T | CA351650641 | ITPR1 | c.3204G>T (p.Leu1068Phe) c.3186G>T (p.Leu1062Phe) c.3159G>T (p.Leu1053Phe) c.996+29569G>T (n.996+29569G>T) n.732G>T c.1041G>T (p.Leu347Phe) c.139G>T c.533G>T c.3231G>T (p.Leu1077Phe) | |
| 3 | g.4683456A>C | CA351650642 | ITPR1 | c.3205A>C (p.Thr1069Pro) c.3187A>C (p.Thr1063Pro) c.3160A>C (p.Thr1054Pro) c.996+29570A>C (n.996+29570A>C) n.733A>C c.1042A>C (p.Thr348Pro) c.140A>C c.534A>C c.3232A>C (p.Thr1078Pro) | |
| 3 | g.4683456A>G | CA351650643 | ITPR1 | c.3205A>G (p.Thr1069Ala) c.3187A>G (p.Thr1063Ala) c.3160A>G (p.Thr1054Ala) c.996+29570A>G (n.996+29570A>G) n.733A>G c.1042A>G (p.Thr348Ala) c.140A>G c.534A>G c.3232A>G (p.Thr1078Ala) | |
| 3 | g.4683456A>T | CA351650644 | ITPR1 | c.3205A>T (p.Thr1069Ser) c.3187A>T (p.Thr1063Ser) c.3160A>T (p.Thr1054Ser) c.996+29570A>T (n.996+29570A>T) n.733A>T c.1042A>T (p.Thr348Ser) c.140A>T c.534A>T c.3232A>T (p.Thr1078Ser) | |
| 3 | g.4683457C>A | CA351650645 | ITPR1 | c.3206C>A (p.Thr1069Lys) c.3188C>A (p.Thr1063Lys) c.3161C>A (p.Thr1054Lys) c.996+29571C>A (n.996+29571C>A) n.734C>A c.1043C>A (p.Thr348Lys) c.141C>A c.535C>A c.3233C>A (p.Thr1078Lys) | |
| 3 | g.4683457C= | CA1342287224 | ITPR1 | c.3206C= (p.Thr1069=) c.3188C= (p.Thr1063=) c.3161C= (p.Thr1054=) c.996+29571C= (n.996+29571C=) n.734C= c.1043C= (p.Thr348=) c.141C= c.535C= c.3233C= (p.Thr1078=) | |
| 3 | g.4683457C>G | CA351650646 | ITPR1 | c.3206C>G (p.Thr1069Arg) c.3188C>G (p.Thr1063Arg) c.3161C>G (p.Thr1054Arg) c.996+29571C>G (n.996+29571C>G) n.734C>G c.1043C>G (p.Thr348Arg) c.141C>G c.535C>G c.3233C>G (p.Thr1078Arg) | gnomAD v4 |
| 3 | g.4683457C>T | CA68827110 | ITPR1 | c.3206C>T (p.Thr1069Met) c.3188C>T (p.Thr1063Met) c.3161C>T (p.Thr1054Met) c.996+29571C>T (n.996+29571C>T) n.734C>T c.1043C>T (p.Thr348Met) c.141C>T c.535C>T c.3233C>T (p.Thr1078Met) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4683458G>A | CA2231631 | ITPR1 | c.3207G>A (p.Thr1069=) c.3189G>A (p.Thr1063=) c.3162G>A (p.Thr1054=) c.996+29572G>A (n.996+29572G>A) n.735G>A c.1044G>A (p.Thr348=) c.142G>A c.536G>A c.3234G>A (p.Thr1078=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683458G>C | CA432321448 | ITPR1 | c.3207G>C (p.Thr1069=) c.3189G>C (p.Thr1063=) c.3162G>C (p.Thr1054=) c.996+29572G>C (n.996+29572G>C) n.735G>C c.1044G>C (p.Thr348=) c.142G>C c.536G>C c.3234G>C (p.Thr1078=) | |
| 3 | g.4683458G= | CA1342287227 | ITPR1 | c.3207G= (p.Thr1069=) c.3189G= (p.Thr1063=) c.3162G= (p.Thr1054=) c.996+29572G= (n.996+29572G=) n.735G= c.1044G= (p.Thr348=) c.142G= c.536G= c.3234G= (p.Thr1078=) | |
| 3 | g.4683458G>T | CA432321451 | ITPR1 | c.3207G>T (p.Thr1069=) c.3189G>T (p.Thr1063=) c.3162G>T (p.Thr1054=) c.996+29572G>T (n.996+29572G>T) n.735G>T c.1044G>T (p.Thr348=) c.142G>T c.536G>T c.3234G>T (p.Thr1078=) | COSMIC COSMIC COSMIC |
| 3 | g.4683459A>C | CA351650647 | ITPR1 | c.3208A>C (p.Met1070Leu) c.3190A>C (p.Met1064Leu) c.3163A>C (p.Met1055Leu) c.996+29573A>C (n.996+29573A>C) n.736A>C c.1045A>C (p.Met349Leu) c.143A>C c.537A>C c.3235A>C (p.Met1079Leu) | |
| 3 | g.4683459A>G | CA351650648 | ITPR1 | c.3208A>G (p.Met1070Val) c.3190A>G (p.Met1064Val) c.3163A>G (p.Met1055Val) c.996+29573A>G (n.996+29573A>G) n.736A>G c.1045A>G (p.Met349Val) c.143A>G c.537A>G c.3235A>G (p.Met1079Val) | |
| 3 | g.4683459A>T | CA351650649 | ITPR1 | c.3208A>T (p.Met1070Leu) c.3190A>T (p.Met1064Leu) c.3163A>T (p.Met1055Leu) c.996+29573A>T (n.996+29573A>T) n.736A>T c.1045A>T (p.Met349Leu) c.143A>T c.537A>T c.3235A>T (p.Met1079Leu) | |
| 3 | g.4683460T>A | CA351650652 | ITPR1 | c.3209T>A (p.Met1070Lys) c.3191T>A (p.Met1064Lys) c.3164T>A (p.Met1055Lys) c.996+29574T>A (n.996+29574T>A) n.737T>A c.1046T>A (p.Met349Lys) c.144T>A c.538T>A c.3236T>A (p.Met1079Lys) | |
| 3 | g.4683460T>C | CA351650651 | ITPR1 | c.3209T>C (p.Met1070Thr) c.3191T>C (p.Met1064Thr) c.3164T>C (p.Met1055Thr) c.996+29574T>C (n.996+29574T>C) n.737T>C c.1046T>C (p.Met349Thr) c.144T>C c.538T>C c.3236T>C (p.Met1079Thr) | |
| 3 | g.4683460T>G | CA351650650 | ITPR1 | c.3209T>G (p.Met1070Arg) c.3191T>G (p.Met1064Arg) c.3164T>G (p.Met1055Arg) c.996+29574T>G (n.996+29574T>G) n.737T>G c.1046T>G (p.Met349Arg) c.144T>G c.538T>G c.3236T>G (p.Met1079Arg) | |
| 3 | g.4683461G>A | CA351650654 | ITPR1 | c.3210G>A (p.Met1070Ile) c.3192G>A (p.Met1064Ile) c.3165G>A (p.Met1055Ile) c.996+29575G>A (n.996+29575G>A) n.738G>A c.1047G>A (p.Met349Ile) c.145G>A c.539G>A c.3237G>A (p.Met1079Ile) | gnomAD v4 |
| 3 | g.4683461G>C | CA351650653 | ITPR1 | c.3210G>C (p.Met1070Ile) c.3192G>C (p.Met1064Ile) c.3165G>C (p.Met1055Ile) c.996+29575G>C (n.996+29575G>C) n.738G>C c.1047G>C (p.Met349Ile) c.145G>C c.539G>C c.3237G>C (p.Met1079Ile) | |
| 3 | g.4683461G>T | CA351650655 | ITPR1 | c.3210G>T (p.Met1070Ile) c.3192G>T (p.Met1064Ile) c.3165G>T (p.Met1055Ile) c.996+29575G>T (n.996+29575G>T) n.738G>T c.1047G>T (p.Met349Ile) c.145G>T c.539G>T c.3237G>T (p.Met1079Ile) | |
| 3 | g.4683462C>A | CA351650656 | ITPR1 | c.3211C>A (p.His1071Asn) c.3193C>A (p.His1065Asn) c.3166C>A (p.His1056Asn) c.996+29576C>A (n.996+29576C>A) n.739C>A c.1048C>A (p.His350Asn) c.146C>A c.540C>A c.3238C>A (p.His1080Asn) | |
| 3 | g.4683462C>G | CA351650657 | ITPR1 | c.3211C>G (p.His1071Asp) c.3193C>G (p.His1065Asp) c.3166C>G (p.His1056Asp) c.996+29576C>G (n.996+29576C>G) n.739C>G c.1048C>G (p.His350Asp) c.146C>G c.540C>G c.3238C>G (p.His1080Asp) | |
| 3 | g.4683462C>T | CA351650658 | ITPR1 | c.3211C>T (p.His1071Tyr) c.3193C>T (p.His1065Tyr) c.3166C>T (p.His1056Tyr) c.996+29576C>T (n.996+29576C>T) n.739C>T c.1048C>T (p.His350Tyr) c.146C>T c.540C>T c.3238C>T (p.His1080Tyr) | |
| 3 | g.4683463A>C | CA351650659 | ITPR1 | c.3212A>C (p.His1071Pro) c.3194A>C (p.His1065Pro) c.3167A>C (p.His1056Pro) c.996+29577A>C (n.996+29577A>C) n.740A>C c.1049A>C (p.His350Pro) c.147A>C c.541A>C c.3239A>C (p.His1080Pro) | |
| 3 | g.4683463A>G | CA351650660 | ITPR1 | c.3212A>G (p.His1071Arg) c.3194A>G (p.His1065Arg) c.3167A>G (p.His1056Arg) c.996+29577A>G (n.996+29577A>G) n.740A>G c.1049A>G (p.His350Arg) c.147A>G c.541A>G c.3239A>G (p.His1080Arg) | |
| 3 | g.4683463A>T | CA351650661 | ITPR1 | c.3212A>T (p.His1071Leu) c.3194A>T (p.His1065Leu) c.3167A>T (p.His1056Leu) c.996+29577A>T (n.996+29577A>T) n.740A>T c.1049A>T (p.His350Leu) c.147A>T c.541A>T c.3239A>T (p.His1080Leu) | gnomAD v4 |
| 3 | g.4683464T>A | CA351650662 | ITPR1 | c.3213T>A (p.His1071Gln) c.3195T>A (p.His1065Gln) c.3168T>A (p.His1056Gln) c.996+29578T>A (n.996+29578T>A) n.741T>A c.1050T>A (p.His350Gln) c.148T>A c.542T>A c.3240T>A (p.His1080Gln) | |
| 3 | g.4683464T>C | CA432321470 | ITPR1 | c.3213T>C (p.His1071=) c.3195T>C (p.His1065=) c.3168T>C (p.His1056=) c.996+29578T>C (n.996+29578T>C) n.741T>C c.1050T>C (p.His350=) c.148T>C c.542T>C c.3240T>C (p.His1080=) | |
| 3 | g.4683464T>G | CA351650663 | ITPR1 | c.3213T>G (p.His1071Gln) c.3195T>G (p.His1065Gln) c.3168T>G (p.His1056Gln) c.996+29578T>G (n.996+29578T>G) n.741T>G c.1050T>G (p.His350Gln) c.148T>G c.542T>G c.3240T>G (p.His1080Gln) | |
| 3 | g.4683465G>A | CA351650664 | ITPR1 | c.3214G>A (p.Asp1072Asn) c.3196G>A (p.Asp1066Asn) c.3169G>A (p.Asp1057Asn) c.996+29579G>A (n.996+29579G>A) n.742G>A c.1051G>A (p.Asp351Asn) c.149G>A c.543G>A c.3241G>A (p.Asp1081Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4683465G>C | CA351650665 | ITPR1 | c.3214G>C (p.Asp1072His) c.3196G>C (p.Asp1066His) c.3169G>C (p.Asp1057His) c.996+29579G>C (n.996+29579G>C) n.742G>C c.1051G>C (p.Asp351His) c.149G>C c.543G>C c.3241G>C (p.Asp1081His) | |
| 3 | g.4683465G= | CA1342287228 | ITPR1 | c.3214G= (p.Asp1072=) c.3196G= (p.Asp1066=) c.3169G= (p.Asp1057=) c.996+29579G= (n.996+29579G=) n.742G= c.1051G= (p.Asp351=) c.149G= c.543G= c.3241G= (p.Asp1081=) | |
| 3 | g.4683465G>T | CA351650666 | ITPR1 | c.3214G>T (p.Asp1072Tyr) c.3196G>T (p.Asp1066Tyr) c.3169G>T (p.Asp1057Tyr) c.996+29579G>T (n.996+29579G>T) n.742G>T c.1051G>T (p.Asp351Tyr) c.149G>T c.543G>T c.3241G>T (p.Asp1081Tyr) | |
| 3 | g.4683466A>C | CA351650669 | ITPR1 | c.3215A>C (p.Asp1072Ala) c.3197A>C (p.Asp1066Ala) c.3170A>C (p.Asp1057Ala) c.996+29580A>C (n.996+29580A>C) n.743A>C c.1052A>C (p.Asp351Ala) c.150A>C c.544A>C c.3242A>C (p.Asp1081Ala) | |
| 3 | g.4683466A>G | CA351650668 | ITPR1 | c.3215A>G (p.Asp1072Gly) c.3197A>G (p.Asp1066Gly) c.3170A>G (p.Asp1057Gly) c.996+29580A>G (n.996+29580A>G) n.743A>G c.1052A>G (p.Asp351Gly) c.150A>G c.544A>G c.3242A>G (p.Asp1081Gly) | |
| 3 | g.4683466A>T | CA351650667 | ITPR1 | c.3215A>T (p.Asp1072Val) c.3197A>T (p.Asp1066Val) c.3170A>T (p.Asp1057Val) c.996+29580A>T (n.996+29580A>T) n.743A>T c.1052A>T (p.Asp351Val) c.150A>T c.544A>T c.3242A>T (p.Asp1081Val) | dbSNP |
| 3 | g.4683467C>A | CA351650670 | ITPR1 | c.3216C>A (p.Asp1072Glu) c.3198C>A (p.Asp1066Glu) c.3171C>A (p.Asp1057Glu) c.996+29581C>A (n.996+29581C>A) n.744C>A c.1053C>A (p.Asp351Glu) c.151C>A c.545C>A c.3243C>A (p.Asp1081Glu) | |
| 3 | g.4683467C>G | CA351650671 | ITPR1 | c.3216C>G (p.Asp1072Glu) c.3198C>G (p.Asp1066Glu) c.3171C>G (p.Asp1057Glu) c.996+29581C>G (n.996+29581C>G) n.744C>G c.1053C>G (p.Asp351Glu) c.151C>G c.545C>G c.3243C>G (p.Asp1081Glu) | |
| 3 | g.4683467C>T | CA432321481 | ITPR1 | c.3216C>T (p.Asp1072=) c.3198C>T (p.Asp1066=) c.3171C>T (p.Asp1057=) c.996+29581C>T (n.996+29581C>T) n.744C>T c.1053C>T (p.Asp351=) c.151C>T c.545C>T c.3243C>T (p.Asp1081=) | |
| 3 | g.4683468T>A | CA351650672 | ITPR1 | c.3217T>A (p.Tyr1073Asn) c.3199T>A (p.Tyr1067Asn) c.3172T>A (p.Tyr1058Asn) c.996+29582T>A (n.996+29582T>A) n.745T>A c.1054T>A (p.Tyr352Asn) c.152T>A c.546T>A c.3244T>A (p.Tyr1082Asn) | |
| 3 | g.4683468T>C | CA351650673 | ITPR1 | c.3217T>C (p.Tyr1073His) c.3199T>C (p.Tyr1067His) c.3172T>C (p.Tyr1058His) c.996+29582T>C (n.996+29582T>C) n.745T>C c.1054T>C (p.Tyr352His) c.152T>C c.546T>C c.3244T>C (p.Tyr1082His) | |
| 3 | g.4683468T>G | CA351650674 | ITPR1 | c.3217T>G (p.Tyr1073Asp) c.3199T>G (p.Tyr1067Asp) c.3172T>G (p.Tyr1058Asp) c.996+29582T>G (n.996+29582T>G) n.745T>G c.1054T>G (p.Tyr352Asp) c.152T>G c.546T>G c.3244T>G (p.Tyr1082Asp) | |
| 3 | g.4683469A= | CA1342287229 | ITPR1 | c.3218A= (p.Tyr1073=) c.3200A= (p.Tyr1067=) c.3173A= (p.Tyr1058=) c.996+29583A= (n.996+29583A=) n.746A= c.1055A= (p.Tyr352=) c.153A= c.547A= c.3245A= (p.Tyr1082=) | |
| 3 | g.4683469A>C | CA351650675 | ITPR1 | c.3218A>C (p.Tyr1073Ser) c.3200A>C (p.Tyr1067Ser) c.3173A>C (p.Tyr1058Ser) c.996+29583A>C (n.996+29583A>C) n.746A>C c.1055A>C (p.Tyr352Ser) c.153A>C c.547A>C c.3245A>C (p.Tyr1082Ser) | |
| 3 | g.4683469A>G | CA351650676 | ITPR1 | c.3218A>G (p.Tyr1073Cys) c.3200A>G (p.Tyr1067Cys) c.3173A>G (p.Tyr1058Cys) c.996+29583A>G (n.996+29583A>G) n.746A>G c.1055A>G (p.Tyr352Cys) c.153A>G c.547A>G c.3245A>G (p.Tyr1082Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4683469A>T | CA351650677 | ITPR1 | c.3218A>T (p.Tyr1073Phe) c.3200A>T (p.Tyr1067Phe) c.3173A>T (p.Tyr1058Phe) c.996+29583A>T (n.996+29583A>T) n.746A>T c.1055A>T (p.Tyr352Phe) c.153A>T c.547A>T c.3245A>T (p.Tyr1082Phe) | |
| 3 | g.4683470C>A | CA351650678 | ITPR1 | c.3219C>A (p.Tyr1073Ter) c.3201C>A (p.Tyr1067Ter) c.3174C>A (p.Tyr1058Ter) c.996+29584C>A (n.996+29584C>A) n.747C>A c.1056C>A (p.Tyr352Ter) c.154C>A c.548C>A c.3246C>A (p.Tyr1082Ter) | |
| 3 | g.4683470C>G | CA351650679 | ITPR1 | c.3219C>G (p.Tyr1073Ter) c.3201C>G (p.Tyr1067Ter) c.3174C>G (p.Tyr1058Ter) c.996+29584C>G (n.996+29584C>G) n.747C>G c.1056C>G (p.Tyr352Ter) c.154C>G c.548C>G c.3246C>G (p.Tyr1082Ter) | |
| 3 | g.4683470C>T | CA432321491 | ITPR1 | c.3219C>T (p.Tyr1073=) c.3201C>T (p.Tyr1067=) c.3174C>T (p.Tyr1058=) c.996+29584C>T (n.996+29584C>T) n.747C>T c.1056C>T (p.Tyr352=) c.154C>T c.548C>T c.3246C>T (p.Tyr1082=) | gnomAD v4 |
| 3 | g.4683471C>A | CA351650680 | ITPR1 | c.3220C>A (p.Pro1074Thr) c.3202C>A (p.Pro1068Thr) c.3175C>A (p.Pro1059Thr) c.996+29585C>A (n.996+29585C>A) n.748C>A c.1057C>A (p.Pro353Thr) c.155C>A c.549C>A c.3247C>A (p.Pro1083Thr) | COSMIC COSMIC COSMIC |
| 3 | g.4683471C= | CA1342287230 | ITPR1 | c.3220C= (p.Pro1074=) c.3202C= (p.Pro1068=) c.3175C= (p.Pro1059=) c.996+29585C= (n.996+29585C=) n.748C= c.1057C= (p.Pro353=) c.155C= c.549C= c.3247C= (p.Pro1083=) | |
| 3 | g.4683471C>G | CA68827125 | ITPR1 | c.3220C>G (p.Pro1074Ala) c.3202C>G (p.Pro1068Ala) c.3175C>G (p.Pro1059Ala) c.996+29585C>G (n.996+29585C>G) n.748C>G c.1057C>G (p.Pro353Ala) c.155C>G c.549C>G c.3247C>G (p.Pro1083Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4683471C>T | CA351650681 | ITPR1 | c.3220C>T (p.Pro1074Ser) c.3202C>T (p.Pro1068Ser) c.3175C>T (p.Pro1059Ser) c.996+29585C>T (n.996+29585C>T) n.748C>T c.1057C>T (p.Pro353Ser) c.155C>T c.549C>T c.3247C>T (p.Pro1083Ser) | |
| 3 | g.4683472C>A | CA351650683 | ITPR1 | c.3221C>A (p.Pro1074Gln) c.3203C>A (p.Pro1068Gln) c.3176C>A (p.Pro1059Gln) c.996+29586C>A (n.996+29586C>A) n.749C>A c.1058C>A (p.Pro353Gln) c.156C>A c.550C>A c.3248C>A (p.Pro1083Gln) | |
| 3 | g.4683472C= | CA1342287231 | ITPR1 | c.3221C= (p.Pro1074=) c.3203C= (p.Pro1068=) c.3176C= (p.Pro1059=) c.996+29586C= (n.996+29586C=) n.749C= c.1058C= (p.Pro353=) c.156C= c.550C= c.3248C= (p.Pro1083=) | |
| 3 | g.4683472C>G | CA351650682 | ITPR1 | c.3221C>G (p.Pro1074Arg) c.3203C>G (p.Pro1068Arg) c.3176C>G (p.Pro1059Arg) c.996+29586C>G (n.996+29586C>G) n.749C>G c.1058C>G (p.Pro353Arg) c.156C>G c.550C>G c.3248C>G (p.Pro1083Arg) | |
| 3 | g.4683472C>T | CA341334 | ITPR1 | c.3221C>T (p.Pro1074Leu) c.3203C>T (p.Pro1068Leu) c.3176C>T (p.Pro1059Leu) c.996+29586C>T (n.996+29586C>T) n.749C>T c.1058C>T (p.Pro353Leu) c.156C>T c.550C>T c.3248C>T (p.Pro1083Leu) | ClinVar dbSNP |
| 3 | g.4683473A= | CA1342287246 | ITPR1 | c.3222A= (p.Pro1074=) c.3204A= (p.Pro1068=) c.3177A= (p.Pro1059=) c.996+29587A= (n.996+29587A=) n.750A= c.1059A= (p.Pro353=) c.157A= c.551A= c.3249A= (p.Pro1083=) | |
| 3 | g.4683473A>C | CA432321509 | ITPR1 | c.3222A>C (p.Pro1074=) c.3204A>C (p.Pro1068=) c.3177A>C (p.Pro1059=) c.996+29587A>C (n.996+29587A>C) n.750A>C c.1059A>C (p.Pro353=) c.157A>C c.551A>C c.3249A>C (p.Pro1083=) | |
| 3 | g.4683473A>G | CA2231632 | ITPR1 | c.3222A>G (p.Pro1074=) c.3204A>G (p.Pro1068=) c.3177A>G (p.Pro1059=) c.996+29587A>G (n.996+29587A>G) n.750A>G c.1059A>G (p.Pro353=) c.157A>G c.551A>G c.3249A>G (p.Pro1083=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4683473A>T | CA432321507 | ITPR1 | c.3222A>T (p.Pro1074=) c.3204A>T (p.Pro1068=) c.3177A>T (p.Pro1059=) c.996+29587A>T (n.996+29587A>T) n.750A>T c.1059A>T (p.Pro353=) c.157A>T c.551A>T c.3249A>T (p.Pro1083=) | |
| 3 | g.4683474C>A | CA2231633 | ITPR1 | c.3223C>A (p.Pro1075Thr) c.3205C>A (p.Pro1069Thr) c.3178C>A (p.Pro1060Thr) c.996+29588C>A (n.996+29588C>A) n.751C>A c.1060C>A (p.Pro354Thr) c.158C>A c.552C>A c.3250C>A (p.Pro1084Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4683474C= | CA1342287249 | ITPR1 | c.3223C= (p.Pro1075=) c.3205C= (p.Pro1069=) c.3178C= (p.Pro1060=) c.996+29588C= (n.996+29588C=) n.751C= c.1060C= (p.Pro354=) c.158C= c.552C= c.3250C= (p.Pro1084=) | |
| 3 | g.4683474C>G | CA351650684 | ITPR1 | c.3223C>G (p.Pro1075Ala) c.3205C>G (p.Pro1069Ala) c.3178C>G (p.Pro1060Ala) c.996+29588C>G (n.996+29588C>G) n.751C>G c.1060C>G (p.Pro354Ala) c.158C>G c.552C>G c.3250C>G (p.Pro1084Ala) | |
| 3 | g.4683474C>T | CA351650685 | ITPR1 | c.3223C>T (p.Pro1075Ser) c.3205C>T (p.Pro1069Ser) c.3178C>T (p.Pro1060Ser) c.996+29588C>T (n.996+29588C>T) n.751C>T c.1060C>T (p.Pro354Ser) c.158C>T c.552C>T c.3250C>T (p.Pro1084Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4683475C>A | CA351650686 | ITPR1 | c.3224C>A (p.Pro1075His) c.3206C>A (p.Pro1069His) c.3179C>A (p.Pro1060His) c.996+29589C>A (n.996+29589C>A) n.752C>A c.1061C>A (p.Pro354His) c.159C>A c.553C>A c.3251C>A (p.Pro1084His) | |
| 3 | g.4683475C= | CA1342287255 | ITPR1 | c.3224C= (p.Pro1075=) c.3206C= (p.Pro1069=) c.3179C= (p.Pro1060=) c.996+29589C= (n.996+29589C=) n.752C= c.1061C= (p.Pro354=) c.159C= c.553C= c.3251C= (p.Pro1084=) | |
| 3 | g.4683475C>G | CA351650687 | ITPR1 | c.3224C>G (p.Pro1075Arg) c.3206C>G (p.Pro1069Arg) c.3179C>G (p.Pro1060Arg) c.996+29589C>G (n.996+29589C>G) n.752C>G c.1061C>G (p.Pro354Arg) c.159C>G c.553C>G c.3251C>G (p.Pro1084Arg) | |
| 3 | g.4683475C>T | CA351650688 | ITPR1 | c.3224C>T (p.Pro1075Leu) c.3206C>T (p.Pro1069Leu) c.3179C>T (p.Pro1060Leu) c.996+29589C>T (n.996+29589C>T) n.752C>T c.1061C>T (p.Pro354Leu) c.159C>T c.553C>T c.3251C>T (p.Pro1084Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683476C>A | CA432321532 | ITPR1 | c.3225C>A (p.Pro1075=) c.3207C>A (p.Pro1069=) c.3180C>A (p.Pro1060=) c.996+29590C>A (n.996+29590C>A) n.753C>A c.1062C>A (p.Pro354=) c.160C>A c.554C>A c.3252C>A (p.Pro1084=) | |
| 3 | g.4683476C= | CA1342287258 | ITPR1 | c.3225C= (p.Pro1075=) c.3207C= (p.Pro1069=) c.3180C= (p.Pro1060=) c.996+29590C= (n.996+29590C=) n.753C= c.1062C= (p.Pro354=) c.160C= c.554C= c.3252C= (p.Pro1084=) | |
| 3 | g.4683476C>G | CA432321541 | ITPR1 | c.3225C>G (p.Pro1075=) c.3207C>G (p.Pro1069=) c.3180C>G (p.Pro1060=) c.996+29590C>G (n.996+29590C>G) n.753C>G c.1062C>G (p.Pro354=) c.160C>G c.554C>G c.3252C>G (p.Pro1084=) | dbSNP gnomAD v4 |
| 3 | g.4683476C>T | CA432321538 | ITPR1 | c.3225C>T (p.Pro1075=) c.3207C>T (p.Pro1069=) c.3180C>T (p.Pro1060=) c.996+29590C>T (n.996+29590C>T) n.753C>T c.1062C>T (p.Pro354=) c.160C>T c.554C>T c.3252C>T (p.Pro1084=) | gnomAD v3 gnomAD v4 |
| 3 | g.4683477C>A | CA351650690 | ITPR1 | c.3226C>A (p.Leu1076Met) c.3208C>A (p.Leu1070Met) c.3181C>A (p.Leu1061Met) c.996+29591C>A (n.996+29591C>A) n.754C>A c.1063C>A (p.Leu355Met) c.161C>A c.555C>A c.3253C>A (p.Leu1085Met) | |
| 3 | g.4683477C>G | CA351650689 | ITPR1 | c.3226C>G (p.Leu1076Val) c.3208C>G (p.Leu1070Val) c.3181C>G (p.Leu1061Val) c.996+29591C>G (n.996+29591C>G) n.754C>G c.1063C>G (p.Leu355Val) c.161C>G c.555C>G c.3253C>G (p.Leu1085Val) | |
| 3 | g.4683477C>T | CA432321547 | ITPR1 | c.3226C>T (p.Leu1076=) c.3208C>T (p.Leu1070=) c.3181C>T (p.Leu1061=) c.996+29591C>T (n.996+29591C>T) n.754C>T c.1063C>T (p.Leu355=) c.161C>T c.555C>T c.3253C>T (p.Leu1085=) | |
| 3 | g.4683478T>A | CA351650691 | ITPR1 | c.3227T>A (p.Leu1076Gln) c.3209T>A (p.Leu1070Gln) c.3182T>A (p.Leu1061Gln) c.996+29592T>A (n.996+29592T>A) n.755T>A c.1064T>A (p.Leu355Gln) c.162T>A c.556T>A c.3254T>A (p.Leu1085Gln) | |
| 3 | g.4683478T>C | CA351650692 | ITPR1 | c.3227T>C (p.Leu1076Pro) c.3209T>C (p.Leu1070Pro) c.3182T>C (p.Leu1061Pro) c.996+29592T>C (n.996+29592T>C) n.755T>C c.1064T>C (p.Leu355Pro) c.162T>C c.556T>C c.3254T>C (p.Leu1085Pro) | |
| 3 | g.4683478T>G | CA351650693 | ITPR1 | c.3227T>G (p.Leu1076Arg) c.3209T>G (p.Leu1070Arg) c.3182T>G (p.Leu1061Arg) c.996+29592T>G (n.996+29592T>G) n.755T>G c.1064T>G (p.Leu355Arg) c.162T>G c.556T>G c.3254T>G (p.Leu1085Arg) | |
| 3 | g.4683479G>A | CA432321554 | ITPR1 | c.3228G>A (p.Leu1076=) c.3210G>A (p.Leu1070=) c.3183G>A (p.Leu1061=) c.996+29593G>A (n.996+29593G>A) n.756G>A c.1065G>A (p.Leu355=) c.163G>A c.557G>A c.3255G>A (p.Leu1085=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4683479G>C | CA432321555 | ITPR1 | c.3228G>C (p.Leu1076=) c.3210G>C (p.Leu1070=) c.3183G>C (p.Leu1061=) c.996+29593G>C (n.996+29593G>C) n.756G>C c.1065G>C (p.Leu355=) c.163G>C c.557G>C c.3255G>C (p.Leu1085=) | |
| 3 | g.4683479G= | CA1342287260 | ITPR1 | c.3228G= (p.Leu1076=) c.3210G= (p.Leu1070=) c.3183G= (p.Leu1061=) c.996+29593G= (n.996+29593G=) n.756G= c.1065G= (p.Leu355=) c.163G= c.557G= c.3255G= (p.Leu1085=) | |
| 3 | g.4683479G>T | CA432321557 | ITPR1 | c.3228G>T (p.Leu1076=) c.3210G>T (p.Leu1070=) c.3183G>T (p.Leu1061=) c.996+29593G>T (n.996+29593G>T) n.756G>T c.1065G>T (p.Leu355=) c.163G>T c.557G>T c.3255G>T (p.Leu1085=) | |
| 3 | g.4683480G>A | CA351650694 | ITPR1 | c.3229G>A (p.Val1077Met) c.3211G>A (p.Val1071Met) c.3184G>A (p.Val1062Met) c.996+29594G>A (n.996+29594G>A) n.757G>A c.1066G>A (p.Val356Met) c.164G>A c.558G>A c.3256G>A (p.Val1086Met) | |
| 3 | g.4683480G>C | CA351650695 | ITPR1 | c.3229G>C (p.Val1077Leu) c.3211G>C (p.Val1071Leu) c.3184G>C (p.Val1062Leu) c.996+29594G>C (n.996+29594G>C) n.757G>C c.1066G>C (p.Val356Leu) c.164G>C c.558G>C c.3256G>C (p.Val1086Leu) | |
| 3 | g.4683480G>T | CA351650696 | ITPR1 | c.3229G>T (p.Val1077Leu) c.3211G>T (p.Val1071Leu) c.3184G>T (p.Val1062Leu) c.996+29594G>T (n.996+29594G>T) n.757G>T c.1066G>T (p.Val356Leu) c.164G>T c.558G>T c.3256G>T (p.Val1086Leu) | |
| 3 | g.4683481T>A | CA351650697 | ITPR1 | c.3230T>A (p.Val1077Glu) c.3212T>A (p.Val1071Glu) c.3185T>A (p.Val1062Glu) c.996+29595T>A (n.996+29595T>A) n.758T>A c.1067T>A (p.Val356Glu) c.165T>A c.559T>A c.3257T>A (p.Val1086Glu) | |
| 3 | g.4683481T>C | CA351650699 | ITPR1 | c.3230T>C (p.Val1077Ala) c.3212T>C (p.Val1071Ala) c.3185T>C (p.Val1062Ala) c.996+29595T>C (n.996+29595T>C) n.758T>C c.1067T>C (p.Val356Ala) c.165T>C c.559T>C c.3257T>C (p.Val1086Ala) | |
| 3 | g.4683481T>G | CA351650698 | ITPR1 | c.3230T>G (p.Val1077Gly) c.3212T>G (p.Val1071Gly) c.3185T>G (p.Val1062Gly) c.996+29595T>G (n.996+29595T>G) n.758T>G c.1067T>G (p.Val356Gly) c.165T>G c.559T>G c.3257T>G (p.Val1086Gly) |