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 |
|---|---|---|---|---|---|
| 12 | g.72022361T>C | CA605813005 | TPH2 | c.1069-38T>C (n.1069-38T>C) c.475-38T>C (n.475-38T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022361T= | CA2045567324 | TPH2 | c.1069-38T= (n.1069-38T=) c.475-38T= (n.475-38T=) | |
| 12 | g.72022363G>A | CA239241017 | TPH2 | c.1069-36G>A (n.1069-36G>A) c.475-36G>A (n.475-36G>A) | dbSNP |
| 12 | g.72022363G= | CA2045567325 | TPH2 | c.1069-36G= (n.1069-36G=) c.475-36G= (n.475-36G=) | |
| 12 | g.72022364A= | CA2045567327 | TPH2 | c.1069-35A= (n.1069-35A=) c.475-35A= (n.475-35A=) | |
| 12 | g.72022364A>G | CA6689970 | TPH2 | c.1069-35A>G (n.1069-35A>G) c.475-35A>G (n.475-35A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022364A>T | CA2796511480 | TPH2 | c.1069-35A>T (n.1069-35A>T) c.475-35A>T (n.475-35A>T) | |
| 12 | g.72022365C>A | CA655166724 | TPH2 | c.1069-34C>A (n.1069-34C>A) c.475-34C>A (n.475-34C>A) | dbSNP gnomAD v4 COSMIC |
| 12 | g.72022365C= | CA2045567330 | TPH2 | c.1069-34C= (n.1069-34C=) c.475-34C= (n.475-34C=) | |
| 12 | g.72022365C>G | CA2045567334 | TPH2 | c.1069-34C>G (n.1069-34C>G) c.475-34C>G (n.475-34C>G) | dbSNP gnomAD v4 |
| 12 | g.72022365C>T | CA949098026 | TPH2 | c.1069-34C>T (n.1069-34C>T) c.475-34C>T (n.475-34C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.72022366C>A | CA2575227839 | TPH2 | c.1069-33C>A (n.1069-33C>A) c.475-33C>A (n.475-33C>A) | gnomAD v4 |
| 12 | g.72022367A= | CA2045567339 | TPH2 | c.1069-32A= (n.1069-32A=) c.475-32A= (n.475-32A=) | |
| 12 | g.72022367A>T | CA6689971 | TPH2 | c.1069-32A>T (n.1069-32A>T) c.475-32A>T (n.475-32A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022368G>A | CA2619889049 | TPH2 | c.1069-31G>A (n.1069-31G>A) c.475-31G>A (n.475-31G>A) | gnomAD v4 |
| 12 | g.72022368G>T | CA2619889050 | TPH2 | c.1069-31G>T (n.1069-31G>T) c.475-31G>T (n.475-31G>T) | gnomAD v4 |
| 12 | g.72022371C>A | CA2575227841 | TPH2 | c.1069-28C>A (n.1069-28C>A) c.475-28C>A (n.475-28C>A) | gnomAD v4 |
| 12 | g.72022371C>T | CA2575227840 | TPH2 | c.1069-28C>T (n.1069-28C>T) c.475-28C>T (n.475-28C>T) | |
| 12 | g.72022373C>A | CA2619889051 | TPH2 | c.1069-26C>A (n.1069-26C>A) c.475-26C>A (n.475-26C>A) | gnomAD v4 |
| 12 | g.72022374T>C | CA2573110610 | TPH2 | c.1069-25T>C (n.1069-25T>C) c.475-25T>C (n.475-25T>C) | gnomAD v4 |
| 12 | g.72022375G>T | CA2575227842 | TPH2 | c.1069-24G>T (n.1069-24G>T) c.475-24G>T (n.475-24G>T) | |
| 12 | g.72022376A>T | CA2796511481 | TPH2 | c.1069-23A>T (n.1069-23A>T) c.475-23A>T (n.475-23A>T) | |
| 12 | g.72022377A= | CA2045567340 | TPH2 | c.1069-22A= (n.1069-22A=) c.475-22A= (n.475-22A=) | |
| 12 | g.72022377A>G | CA6689972 | TPH2 | c.1069-22A>G (n.1069-22A>G) c.475-22A>G (n.475-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022378T>C | CA2045567344 | TPH2 | c.1069-21T>C (n.1069-21T>C) c.475-21T>C (n.475-21T>C) | dbSNP |
| 12 | g.72022378T>G | CA2619889052 | TPH2 | c.1069-21T>G (n.1069-21T>G) c.475-21T>G (n.475-21T>G) | gnomAD v4 |
| 12 | g.72022378T= | CA2045567342 | TPH2 | c.1069-21T= (n.1069-21T=) c.475-21T= (n.475-21T=) | |
| 12 | g.72022379A= | CA2045567349 | TPH2 | c.1069-20A= (n.1069-20A=) c.475-20A= (n.475-20A=) | |
| 12 | g.72022379A>T | CA949098029 | TPH2 | c.1069-20A>T (n.1069-20A>T) c.475-20A>T (n.475-20A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.72022380T>C | CA2619889053 | TPH2 | c.1069-19T>C (n.1069-19T>C) c.475-19T>C (n.475-19T>C) | gnomAD v4 |
| 12 | g.72022380dup | CA6689973 | TPH2 | c.1069-19dup (n.1069-19dup) c.475-19dup (n.475-19dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022381G>A | CA2796496746 | TPH2 | c.1069-18G>A (n.1069-18G>A) c.475-18G>A (n.475-18G>A) | |
| 12 | g.72022382T>C | CA2045567354 | TPH2 | c.1069-17T>C (n.1069-17T>C) c.475-17T>C (n.475-17T>C) | dbSNP gnomAD v4 |
| 12 | g.72022382T= | CA2045567355 | TPH2 | c.1069-17T= (n.1069-17T=) c.475-17T= (n.475-17T=) | |
| 12 | g.72022385T>A | CA2619889054 | TPH2 | c.1069-14T>A (n.1069-14T>A) c.475-14T>A (n.475-14T>A) | gnomAD v4 |
| 12 | g.72022386C>A | CA2619889055 | TPH2 | c.1069-13C>A (n.1069-13C>A) c.475-13C>A (n.475-13C>A) | gnomAD v4 |
| 12 | g.72022386C= | CA2045567358 | TPH2 | c.1069-13C= (n.1069-13C=) c.475-13C= (n.475-13C=) | |
| 12 | g.72022386C>G | CA2619889056 | TPH2 | c.1069-13C>G (n.1069-13C>G) c.475-13C>G (n.475-13C>G) | gnomAD v4 |
| 12 | g.72022386C>T | CA6689974 | TPH2 | c.1069-13C>T (n.1069-13C>T) c.475-13C>T (n.475-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022387G>A | CA6689975 | TPH2 | c.1069-12G>A (n.1069-12G>A) c.475-12G>A (n.475-12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022387G= | CA2045567363 | TPH2 | c.1069-12G= (n.1069-12G=) c.475-12G= (n.475-12G=) | |
| 12 | g.72022388T>A | CA605813006 | TPH2 | c.1069-11T>A (n.1069-11T>A) c.475-11T>A (n.475-11T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.72022388T= | CA2045567366 | TPH2 | c.1069-11T= (n.1069-11T=) c.475-11T= (n.475-11T=) | |
| 12 | g.72022392del | CA2619889057 | TPH2 | c.1069-7del (n.1069-7del) c.475-7del (n.475-7del) | gnomAD v4 |
| 12 | g.72022390T>A | CA2575227843 | TPH2 | c.1069-9T>A (n.1069-9T>A) c.475-9T>A (n.475-9T>A) | gnomAD v4 |
| 12 | g.72022391T>C | CA2619889058 | TPH2 | c.1069-8T>C (n.1069-8T>C) c.475-8T>C (n.475-8T>C) | gnomAD v4 |
| 12 | g.72022392T>A | CA2518543179 | TPH2 | c.1069-7T>A (n.1069-7T>A) c.475-7T>A (n.475-7T>A) | |
| 12 | g.72022392T>C | CA239241108 | TPH2 | c.1069-7T>C (n.1069-7T>C) c.475-7T>C (n.475-7T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.72022392T>G | CA2619889059 | TPH2 | c.1069-7T>G (n.1069-7T>G) c.475-7T>G (n.475-7T>G) | gnomAD v4 |
| 12 | g.72022392T= | CA2045567374 | TPH2 | c.1069-7T= (n.1069-7T=) c.475-7T= (n.475-7T=) | |
| 12 | g.72022393C>A | CA2575227844 | TPH2 | c.1069-6C>A (n.1069-6C>A) c.475-6C>A (n.475-6C>A) | |
| 12 | g.72022393C>T | CA2726690791 | TPH2 | c.1069-6C>T (n.1069-6C>T) c.475-6C>T (n.475-6C>T) | dbSNP |
| 12 | g.72022394T>C | CA2540418584 | TPH2 | c.1069-5T>C (n.1069-5T>C) c.475-5T>C (n.475-5T>C) | gnomAD v4 |
| 12 | g.72022396C>T | CA645578232 | TPH2 | c.1069-3C>T (n.1069-3C>T) c.475-3C>T (n.475-3C>T) | COSMIC |
| 12 | g.72022397A>C | CA385783679 | TPH2 | c.1069-2A>C (n.1069-2A>C) c.475-2A>C (n.475-2A>C) | |
| 12 | g.72022397A>G | CA385783678 | TPH2 | c.1069-2A>G (n.1069-2A>G) c.475-2A>G (n.475-2A>G) | |
| 12 | g.72022397A>T | CA385783677 | TPH2 | c.1069-2A>T (n.1069-2A>T) c.475-2A>T (n.475-2A>T) | |
| 12 | g.72022398G>A | CA385783680 | TPH2 | c.1069-1G>A (n.1069-1G>A) c.475-1G>A (n.475-1G>A) | |
| 12 | g.72022398G>C | CA385783681 | TPH2 | c.1069-1G>C (n.1069-1G>C) c.475-1G>C (n.475-1G>C) | |
| 12 | g.72022398G>T | CA385783682 | TPH2 | c.1069-1G>T (n.1069-1G>T) c.475-1G>T (n.475-1G>T) | |
| 12 | g.72022399T>A | CA385783683 | TPH2 | c.1069T>A (p.Cys357Ser) c.475T>A (p.Cys159Ser) | |
| 12 | g.72022399T>C | CA385783684 | TPH2 | c.1069T>C (p.Cys357Arg) c.475T>C (p.Cys159Arg) | |
| 12 | g.72022399T>G | CA385783685 | TPH2 | c.1069T>G (p.Cys357Gly) c.475T>G (p.Cys159Gly) | |
| 12 | g.72022400G>A | CA385783686 | TPH2 | c.1070G>A (p.Cys357Tyr) c.476G>A (p.Cys159Tyr) | gnomAD v4 |
| 12 | g.72022400G>C | CA385783687 | TPH2 | c.1070G>C (p.Cys357Ser) c.476G>C (p.Cys159Ser) | |
| 12 | g.72022400G>T | CA385783688 | TPH2 | c.1070G>T (p.Cys357Phe) c.476G>T (p.Cys159Phe) | |
| 12 | g.72022401C>A | CA385783689 | TPH2 | c.1071C>A (p.Cys357Ter) c.477C>A (p.Cys159Ter) | |
| 12 | g.72022401C= | CA2045567382 | TPH2 | c.1071C= (p.Cys357=) c.477C= (p.Cys159=) | |
| 12 | g.72022401C>G | CA385783690 | TPH2 | c.1071C>G (p.Cys357Trp) c.477C>G (p.Cys159Trp) | COSMIC |
| 12 | g.72022401C>T | CA480768840 | TPH2 | c.1071C>T (p.Cys357=) c.477C>T (p.Cys159=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.72022402T>A | CA385783691 | TPH2 | c.1072T>A (p.Tyr358Asn) c.478T>A (p.Tyr160Asn) | |
| 12 | g.72022402T>C | CA385783692 | TPH2 | c.1072T>C (p.Tyr358His) c.478T>C (p.Tyr160His) | |
| 12 | g.72022402T>G | CA385783693 | TPH2 | c.1072T>G (p.Tyr358Asp) c.478T>G (p.Tyr160Asp) | |
| 12 | g.72022403A>C | CA385783695 | TPH2 | c.1073A>C (p.Tyr358Ser) c.479A>C (p.Tyr160Ser) | |
| 12 | g.72022403A>G | CA385783696 | TPH2 | c.1073A>G (p.Tyr358Cys) c.479A>G (p.Tyr160Cys) | gnomAD v4 |
| 12 | g.72022403A>T | CA385783694 | TPH2 | c.1073A>T (p.Tyr358Phe) c.479A>T (p.Tyr160Phe) | |
| 12 | g.72022404T>A | CA385783697 | TPH2 | c.1074T>A (p.Tyr358Ter) c.480T>A (p.Tyr160Ter) | |
| 12 | g.72022404T>C | CA480768844 | TPH2 | c.1074T>C (p.Tyr358=) c.480T>C (p.Tyr160=) | |
| 12 | g.72022404T>G | CA385783698 | TPH2 | c.1074T>G (p.Tyr358Ter) c.480T>G (p.Tyr160Ter) | |
| 12 | g.72022405T>A | CA385783699 | TPH2 | c.1075T>A (p.Phe359Ile) c.481T>A (p.Phe161Ile) | |
| 12 | g.72022405T>C | CA385783700 | TPH2 | c.1075T>C (p.Phe359Leu) c.481T>C (p.Phe161Leu) | |
| 12 | g.72022405T>G | CA385783701 | TPH2 | c.1075T>G (p.Phe359Val) c.481T>G (p.Phe161Val) | |
| 12 | g.72022406T>A | CA385783702 | TPH2 | c.1076T>A (p.Phe359Tyr) c.482T>A (p.Phe161Tyr) | |
| 12 | g.72022406T>C | CA385783703 | TPH2 | c.1076T>C (p.Phe359Ser) c.482T>C (p.Phe161Ser) | |
| 12 | g.72022406T>G | CA385783704 | TPH2 | c.1076T>G (p.Phe359Cys) c.482T>G (p.Phe161Cys) | |
| 12 | g.72022407C>A | CA385783705 | TPH2 | c.1077C>A (p.Phe359Leu) c.483C>A (p.Phe161Leu) | gnomAD v4 |
| 12 | g.72022407C>G | CA385783706 | TPH2 | c.1077C>G (p.Phe359Leu) c.483C>G (p.Phe161Leu) | |
| 12 | g.72022407C>T | CA480768846 | TPH2 | c.1077C>T (p.Phe359=) c.483C>T (p.Phe161=) | |
| 12 | g.72022408T>A | CA385783707 | TPH2 | c.1078T>A (p.Phe360Ile) c.484T>A (p.Phe162Ile) | |
| 12 | g.72022408T>C | CA385783708 | TPH2 | c.1078T>C (p.Phe360Leu) c.484T>C (p.Phe162Leu) | |
| 12 | g.72022408T>G | CA385783709 | TPH2 | c.1078T>G (p.Phe360Val) c.484T>G (p.Phe162Val) | |
| 12 | g.72022409T>A | CA385783712 | TPH2 | c.1079T>A (p.Phe360Tyr) c.485T>A (p.Phe162Tyr) | |
| 12 | g.72022409T>C | CA385783710 | TPH2 | c.1079T>C (p.Phe360Ser) c.485T>C (p.Phe162Ser) | |
| 12 | g.72022409T>G | CA385783711 | TPH2 | c.1079T>G (p.Phe360Cys) c.485T>G (p.Phe162Cys) | |
| 12 | g.72022410C>A | CA385783713 | TPH2 | c.1080C>A (p.Phe360Leu) c.486C>A (p.Phe162Leu) | |
| 12 | g.72022410C>G | CA385783714 | TPH2 | c.1080C>G (p.Phe360Leu) c.486C>G (p.Phe162Leu) | |
| 12 | g.72022410C>T | CA480768848 | TPH2 | c.1080C>T (p.Phe360=) c.486C>T (p.Phe162=) | |
| 12 | g.72022411A>C | CA385783715 | TPH2 | c.1081A>C (p.Thr361Pro) c.487A>C (p.Thr163Pro) | gnomAD v4 |
| 12 | g.72022411A>G | CA385783716 | TPH2 | c.1081A>G (p.Thr361Ala) c.487A>G (p.Thr163Ala) | gnomAD v4 |
| 12 | g.72022411A>T | CA385783717 | TPH2 | c.1081A>T (p.Thr361Ser) c.487A>T (p.Thr163Ser) | COSMIC |
| 12 | g.72022412C>A | CA385783718 | TPH2 | c.1082C>A (p.Thr361Lys) c.488C>A (p.Thr163Lys) | COSMIC |
| 12 | g.72022412C>G | CA385783719 | TPH2 | c.1082C>G (p.Thr361Arg) c.488C>G (p.Thr163Arg) | |
| 12 | g.72022412C>T | CA385783720 | TPH2 | c.1082C>T (p.Thr361Ile) c.488C>T (p.Thr163Ile) | |
| 12 | g.72022413A= | CA2045567386 | TPH2 | c.1083A= (p.Thr361=) c.489A= (p.Thr163=) | |
| 12 | g.72022413A>C | CA480768851 | TPH2 | c.1083A>C (p.Thr361=) c.489A>C (p.Thr163=) | dbSNP |
| 12 | g.72022413A>G | CA480768853 | TPH2 | c.1083A>G (p.Thr361=) c.489A>G (p.Thr163=) | gnomAD v4 |
| 12 | g.72022413A>T | CA480768854 | TPH2 | c.1083A>T (p.Thr361=) c.489A>T (p.Thr163=) | |
| 12 | g.72022414A= | CA2045567389 | TPH2 | c.1084A= (p.Ile362=) c.490A= (p.Ile164=) | |
| 12 | g.72022414A>C | CA385783721 | TPH2 | c.1084A>C (p.Ile362Leu) c.490A>C (p.Ile164Leu) | |
| 12 | g.72022414A>G | CA6689976 | TPH2 | c.1084A>G (p.Ile362Val) c.490A>G (p.Ile164Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.72022414A>T | CA385783722 | TPH2 | c.1084A>T (p.Ile362Phe) c.490A>T (p.Ile164Phe) | |
| 12 | g.72022415T>A | CA385783723 | TPH2 | c.1085T>A (p.Ile362Asn) c.491T>A (p.Ile164Asn) | |
| 12 | g.72022415T>C | CA6689977 | TPH2 | c.1085T>C (p.Ile362Thr) c.491T>C (p.Ile164Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022415T>G | CA385783724 | TPH2 | c.1085T>G (p.Ile362Ser) c.491T>G (p.Ile164Ser) | |
| 12 | g.72022415T= | CA2045567390 | TPH2 | c.1085T= (p.Ile362=) c.491T= (p.Ile164=) | |
| 12 | g.72022416C>A | CA480768856 | TPH2 | c.1086C>A (p.Ile362=) c.492C>A (p.Ile164=) | |
| 12 | g.72022416C= | CA2045567394 | TPH2 | c.1086C= (p.Ile362=) c.492C= (p.Ile164=) | |
| 12 | g.72022416C>G | CA385783725 | TPH2 | c.1086C>G (p.Ile362Met) c.492C>G (p.Ile164Met) | gnomAD v4 |
| 12 | g.72022416C>T | CA6689978 | TPH2 | c.1086C>T (p.Ile362=) c.492C>T (p.Ile164=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022417G>A | CA6689979 | TPH2 | c.1087G>A (p.Glu363Lys) c.493G>A (p.Glu165Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022417G>C | CA385783727 | TPH2 | c.1087G>C (p.Glu363Gln) c.493G>C (p.Glu165Gln) | dbSNP |
| 12 | g.72022417G= | CA2045567400 | TPH2 | c.1087G= (p.Glu363=) c.493G= (p.Glu165=) | |
| 12 | g.72022417G>T | CA385783726 | TPH2 | c.1087G>T (p.Glu363Ter) c.493G>T (p.Glu165Ter) | |
| 12 | g.72022418A= | CA2045567403 | TPH2 | c.1088A= (p.Glu363=) c.494A= (p.Glu165=) | |
| 12 | g.72022418A>C | CA385783728 | TPH2 | c.1088A>C (p.Glu363Ala) c.494A>C (p.Glu165Ala) | |
| 12 | g.72022418A>G | CA385783729 | TPH2 | c.1088A>G (p.Glu363Gly) c.494A>G (p.Glu165Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.72022418A>T | CA385783730 | TPH2 | c.1088A>T (p.Glu363Val) c.494A>T (p.Glu165Val) | |
| 12 | g.72022419G>A | CA480768858 | TPH2 | c.1089G>A (p.Glu363=) c.495G>A (p.Glu165=) | |
| 12 | g.72022419G>C | CA385783731 | TPH2 | c.1089G>C (p.Glu363Asp) c.495G>C (p.Glu165Asp) | |
| 12 | g.72022419G>T | CA385783732 | TPH2 | c.1089G>T (p.Glu363Asp) c.495G>T (p.Glu165Asp) | |
| 12 | g.72022420T>A | CA385783733 | TPH2 | c.1090T>A (p.Phe364Ile) c.496T>A (p.Phe166Ile) | |
| 12 | g.72022420T>C | CA385783734 | TPH2 | c.1090T>C (p.Phe364Leu) c.496T>C (p.Phe166Leu) | |
| 12 | g.72022420T>G | CA385783735 | TPH2 | c.1090T>G (p.Phe364Val) c.496T>G (p.Phe166Val) | |
| 12 | g.72022421T>A | CA385783736 | TPH2 | c.1091T>A (p.Phe364Tyr) c.497T>A (p.Phe166Tyr) | |
| 12 | g.72022421T>C | CA385783737 | TPH2 | c.1091T>C (p.Phe364Ser) c.497T>C (p.Phe166Ser) | |
| 12 | g.72022421T>G | CA385783738 | TPH2 | c.1091T>G (p.Phe364Cys) c.497T>G (p.Phe166Cys) | |
| 12 | g.72022422T>A | CA385783739 | TPH2 | c.1092T>A (p.Phe364Leu) c.498T>A (p.Phe166Leu) | |
| 12 | g.72022422T>C | CA480768860 | TPH2 | c.1092T>C (p.Phe364=) c.498T>C (p.Phe166=) | dbSNP |
| 12 | g.72022422T>G | CA385783740 | TPH2 | c.1092T>G (p.Phe364Leu) c.498T>G (p.Phe166Leu) | |
| 12 | g.72022422T= | CA2045567405 | TPH2 | c.1092T= (p.Phe364=) c.498T= (p.Phe166=) | |
| 12 | g.72022423G>A | CA385783741 | TPH2 | c.1093G>A (p.Gly365Ser) c.499G>A (p.Gly167Ser) | |
| 12 | g.72022423G>C | CA385783743 | TPH2 | c.1093G>C (p.Gly365Arg) c.499G>C (p.Gly167Arg) | |
| 12 | g.72022423G>T | CA385783742 | TPH2 | c.1093G>T (p.Gly365Cys) c.499G>T (p.Gly167Cys) | |
| 12 | g.72022424G>A | CA6689980 | TPH2 | c.1094G>A (p.Gly365Asp) c.500G>A (p.Gly167Asp) | dbSNP ExAC gnomAD v4 |
| 12 | g.72022424G>C | CA385783744 | TPH2 | c.1094G>C (p.Gly365Ala) c.500G>C (p.Gly167Ala) | |
| 12 | g.72022424G= | CA2045567409 | TPH2 | c.1094G= (p.Gly365=) c.500G= (p.Gly167=) | |
| 12 | g.72022424G>T | CA385783745 | TPH2 | c.1094G>T (p.Gly365Val) c.500G>T (p.Gly167Val) | |
| 12 | g.72022425C>A | CA480768864 | TPH2 | c.1095C>A (p.Gly365=) c.501C>A (p.Gly167=) | |
| 12 | g.72022425C>G | CA480768865 | TPH2 | c.1095C>G (p.Gly365=) c.501C>G (p.Gly167=) | gnomAD v4 |
| 12 | g.72022425C>T | CA480768866 | TPH2 | c.1095C>T (p.Gly365=) c.501C>T (p.Gly167=) | |
| 12 | g.72022426C>A | CA6689981 | TPH2 | c.1096C>A (p.Leu366Ile) c.502C>A (p.Leu168Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.72022426C= | CA2045567414 | TPH2 | c.1096C= (p.Leu366=) c.502C= (p.Leu168=) | |
| 12 | g.72022426C>G | CA385783746 | TPH2 | c.1096C>G (p.Leu366Val) c.502C>G (p.Leu168Val) | |
| 12 | g.72022426C>T | CA385783747 | TPH2 | c.1096C>T (p.Leu366Phe) c.502C>T (p.Leu168Phe) | |
| 12 | g.72022427T>A | CA385783748 | TPH2 | c.1097T>A (p.Leu366His) c.503T>A (p.Leu168His) | |
| 12 | g.72022427T>C | CA385783749 | TPH2 | c.1097T>C (p.Leu366Pro) c.503T>C (p.Leu168Pro) | |
| 12 | g.72022427T>G | CA385783750 | TPH2 | c.1097T>G (p.Leu366Arg) c.503T>G (p.Leu168Arg) | |
| 12 | g.72022428T>A | CA480768868 | TPH2 | c.1098T>A (p.Leu366=) c.504T>A (p.Leu168=) | |
| 12 | g.72022428T>C | CA480768869 | TPH2 | c.1098T>C (p.Leu366=) c.504T>C (p.Leu168=) | dbSNP |
| 12 | g.72022428T>G | CA480768870 | TPH2 | c.1098T>G (p.Leu366=) c.504T>G (p.Leu168=) | |
| 12 | g.72022428T= | CA2045567418 | TPH2 | c.1098T= (p.Leu366=) c.504T= (p.Leu168=) | |
| 12 | g.72022429T>A | CA385783753 | TPH2 | c.1099T>A (p.Cys367Ser) c.505T>A (p.Cys169Ser) | |
| 12 | g.72022429T>C | CA385783752 | TPH2 | c.1099T>C (p.Cys367Arg) c.505T>C (p.Cys169Arg) | |
| 12 | g.72022429T>G | CA385783751 | TPH2 | c.1099T>G (p.Cys367Gly) c.505T>G (p.Cys169Gly) | |
| 12 | g.72022430G>A | CA385783754 | TPH2 | c.1100G>A (p.Cys367Tyr) c.506G>A (p.Cys169Tyr) | |
| 12 | g.72022430G>C | CA385783755 | TPH2 | c.1100G>C (p.Cys367Ser) c.506G>C (p.Cys169Ser) | COSMIC |
| 12 | g.72022430G>T | CA385783756 | TPH2 | c.1100G>T (p.Cys367Phe) c.506G>T (p.Cys169Phe) | |
| 12 | g.72022431C>A | CA385783757 | TPH2 | c.1101C>A (p.Cys367Ter) c.507C>A (p.Cys169Ter) | dbSNP |
| 12 | g.72022431C= | CA2045567424 | TPH2 | c.1101C= (p.Cys367=) c.507C= (p.Cys169=) | |
| 12 | g.72022431C>G | CA385783758 | TPH2 | c.1101C>G (p.Cys367Trp) c.507C>G (p.Cys169Trp) | |
| 12 | g.72022431C>T | CA480768874 | TPH2 | c.1101C>T (p.Cys367=) c.507C>T (p.Cys169=) | |
| 12 | g.72022432A= | CA2045567431 | TPH2 | c.1102A= (p.Lys368=) c.508A= (p.Lys170=) | |
| 12 | g.72022432A>C | CA385783759 | TPH2 | c.1102A>C (p.Lys368Gln) c.508A>C (p.Lys170Gln) | |
| 12 | g.72022432A>G | CA6689982 | TPH2 | c.1102A>G (p.Lys368Glu) c.508A>G (p.Lys170Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.72022432A>T | CA385783760 | TPH2 | c.1102A>T (p.Lys368Ter) c.508A>T (p.Lys170Ter) | |
| 12 | g.72022433A= | CA2045567433 | TPH2 | c.1103A= (p.Lys368=) c.509A= (p.Lys170=) | |
| 12 | g.72022433A>C | CA385783761 | TPH2 | c.1103A>C (p.Lys368Thr) c.509A>C (p.Lys170Thr) | |
| 12 | g.72022433A>G | CA6689983 | TPH2 | c.1103A>G (p.Lys368Arg) c.509A>G (p.Lys170Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.72022433A>T | CA385783762 | TPH2 | c.1103A>T (p.Lys368Met) c.509A>T (p.Lys170Met) | |
| 12 | g.72022434G>A | CA480768878 | TPH2 | c.1104G>A (p.Lys368=) c.510G>A (p.Lys170=) | gnomAD v4 |
| 12 | g.72022434G>C | CA385783763 | TPH2 | c.1104G>C (p.Lys368Asn) c.510G>C (p.Lys170Asn) | |
| 12 | g.72022434G>T | CA385783764 | TPH2 | c.1104G>T (p.Lys368Asn) c.510G>T (p.Lys170Asn) | COSMIC |
| 12 | g.72022435C>A | CA385783765 | TPH2 | c.1105C>A (p.Gln369Lys) c.511C>A (p.Gln171Lys) | |
| 12 | g.72022435C>G | CA385783767 | TPH2 | c.1105C>G (p.Gln369Glu) c.511C>G (p.Gln171Glu) | |
| 12 | g.72022435C>T | CA385783766 | TPH2 | c.1105C>T (p.Gln369Ter) c.511C>T (p.Gln171Ter) | |
| 12 | g.72022436A= | CA2045567435 | TPH2 | c.1106A= (p.Gln369=) c.512A= (p.Gln171=) | |
| 12 | g.72022436A>C | CA385783768 | TPH2 | c.1106A>C (p.Gln369Pro) c.512A>C (p.Gln171Pro) | dbSNP |
| 12 | g.72022436A>G | CA385783769 | TPH2 | c.1106A>G (p.Gln369Arg) c.512A>G (p.Gln171Arg) | |
| 12 | g.72022436A>T | CA385783770 | TPH2 | c.1106A>T (p.Gln369Leu) c.512A>T (p.Gln171Leu) | |
| 12 | g.72022437A>C | CA385783771 | TPH2 | c.1107A>C (p.Gln369His) c.513A>C (p.Gln171His) | |
| 12 | g.72022437A>G | CA480768880 | TPH2 | c.1107A>G (p.Gln369=) c.513A>G (p.Gln171=) | |
| 12 | g.72022437A>T | CA385783772 | TPH2 | c.1107A>T (p.Gln369His) c.513A>T (p.Gln171His) | |
| 12 | g.72022438G>A | CA385783773 | TPH2 | c.1108G>A (p.Glu370Lys) c.514G>A (p.Glu172Lys) | |
| 12 | g.72022438G>C | CA385783774 | TPH2 | c.1108G>C (p.Glu370Gln) c.514G>C (p.Glu172Gln) | |
| 12 | g.72022438G>T | CA385783775 | TPH2 | c.1108G>T (p.Glu370Ter) c.514G>T (p.Glu172Ter) | |
| 12 | g.72022439A>C | CA385783776 | TPH2 | c.1109A>C (p.Glu370Ala) c.515A>C (p.Glu172Ala) | |
| 12 | g.72022439A>G | CA385783777 | TPH2 | c.1109A>G (p.Glu370Gly) c.515A>G (p.Glu172Gly) | |
| 12 | g.72022439A>T | CA385783778 | TPH2 | c.1109A>T (p.Glu370Val) c.515A>T (p.Glu172Val) | |
| 12 | g.72022440A>C | CA385783780 | TPH2 | c.1110A>C (p.Glu370Asp) c.516A>C (p.Glu172Asp) | |
| 12 | g.72022440A>G | CA480768882 | TPH2 | c.1110A>G (p.Glu370=) c.516A>G (p.Glu172=) | gnomAD v4 |
| 12 | g.72022440A>T | CA385783779 | TPH2 | c.1110A>T (p.Glu370Asp) c.516A>T (p.Glu172Asp) | |
| 12 | g.72022441G>A | CA385783781 | TPH2 | c.1111G>A (p.Gly371Arg) c.517G>A (p.Gly173Arg) | |
| 12 | g.72022441G>C | CA385783783 | TPH2 | c.1111G>C (p.Gly371Arg) c.517G>C (p.Gly173Arg) | |
| 12 | g.72022441G>T | CA385783782 | TPH2 | c.1111G>T (p.Gly371Trp) c.517G>T (p.Gly173Trp) | |
| 12 | g.72022442G>A | CA385783784 | TPH2 | c.1112G>A (p.Gly371Glu) c.518G>A (p.Gly173Glu) | |
| 12 | g.72022442G>C | CA385783785 | TPH2 | c.1112G>C (p.Gly371Ala) c.518G>C (p.Gly173Ala) | |
| 12 | g.72022442G>T | CA385783786 | TPH2 | c.1112G>T (p.Gly371Val) c.518G>T (p.Gly173Val) | |
| 12 | g.72022443G>A | CA480768886 | TPH2 | c.1113G>A (p.Gly371=) c.519G>A (p.Gly173=) | COSMIC |
| 12 | g.72022443G>C | CA480768888 | TPH2 | c.1113G>C (p.Gly371=) c.519G>C (p.Gly173=) | |
| 12 | g.72022443G>T | CA480768889 | TPH2 | c.1113G>T (p.Gly371=) c.519G>T (p.Gly173=) | |
| 12 | g.72022444C>A | CA385783787 | TPH2 | c.1114C>A (p.Gln372Lys) c.520C>A (p.Gln174Lys) | |
| 12 | g.72022444C>G | CA385783788 | TPH2 | c.1114C>G (p.Gln372Glu) c.520C>G (p.Gln174Glu) | |
| 12 | g.72022444C>T | CA385783789 | TPH2 | c.1114C>T (p.Gln372Ter) c.520C>T (p.Gln174Ter) | |
| 12 | g.72022445A>C | CA385783790 | TPH2 | c.1115A>C (p.Gln372Pro) c.521A>C (p.Gln174Pro) | |
| 12 | g.72022445A>G | CA385783791 | TPH2 | c.1115A>G (p.Gln372Arg) c.521A>G (p.Gln174Arg) | |
| 12 | g.72022445A>T | CA385783792 | TPH2 | c.1115A>T (p.Gln372Leu) c.521A>T (p.Gln174Leu) | |
| 12 | g.72022446A= | CA2045567437 | TPH2 | c.1116A= (p.Gln372=) c.522A= (p.Gln174=) | |
| 12 | g.72022446A>C | CA385783793 | TPH2 | c.1116A>C (p.Gln372His) c.522A>C (p.Gln174His) | |
| 12 | g.72022446A>G | CA480768891 | TPH2 | c.1116A>G (p.Gln372=) c.522A>G (p.Gln174=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.72022446A>T | CA385783794 | TPH2 | c.1116A>T (p.Gln372His) c.522A>T (p.Gln174His) | |
| 12 | g.72022447C>A | CA385783795 | TPH2 | c.1117C>A (p.Leu373Met) c.523C>A (p.Leu175Met) | |
| 12 | g.72022447C>G | CA385783796 | TPH2 | c.1117C>G (p.Leu373Val) c.523C>G (p.Leu175Val) | |
| 12 | g.72022447C>T | CA480768892 | TPH2 | c.1117C>T (p.Leu373=) c.523C>T (p.Leu175=) | |
| 12 | g.72022448T>A | CA385783797 | TPH2 | c.1118T>A (p.Leu373Gln) c.524T>A (p.Leu175Gln) | |
| 12 | g.72022448T>C | CA385783799 | TPH2 | c.1118T>C (p.Leu373Pro) c.524T>C (p.Leu175Pro) | gnomAD v4 |
| 12 | g.72022448T>G | CA385783798 | TPH2 | c.1118T>G (p.Leu373Arg) c.524T>G (p.Leu175Arg) | |
| 12 | g.72022449G>A | CA480768896 | TPH2 | c.1119G>A (p.Leu373=) c.525G>A (p.Leu175=) | |
| 12 | g.72022449G>C | CA480768897 | TPH2 | c.1119G>C (p.Leu373=) c.525G>C (p.Leu175=) | |
| 12 | g.72022449G>T | CA480768898 | TPH2 | c.1119G>T (p.Leu373=) c.525G>T (p.Leu175=) | |
| 12 | g.72022450C>A | CA480768899 | TPH2 | c.1120C>A (p.Arg374=) c.526C>A (p.Arg176=) | gnomAD v4 COSMIC |
| 12 | g.72022450C= | CA2045567441 | TPH2 | c.1120C= (p.Arg374=) c.526C= (p.Arg176=) | |
| 12 | g.72022450C>G | CA385783800 | TPH2 | c.1120C>G (p.Arg374Gly) c.526C>G (p.Arg176Gly) | |
| 12 | g.72022450C>T | CA6689984 | TPH2 | c.1120C>T (p.Arg374Trp) c.526C>T (p.Arg176Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.72022451G>A | CA385783801 | TPH2 | c.1121G>A (p.Arg374Gln) c.527G>A (p.Arg176Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.72022451G>C | CA385783802 | TPH2 | c.1121G>C (p.Arg374Pro) c.527G>C (p.Arg176Pro) | |
| 12 | g.72022451G= | CA2045567444 | TPH2 | c.1121G= (p.Arg374=) c.527G= (p.Arg176=) | |
| 12 | g.72022451G>T | CA385783803 | TPH2 | c.1121G>T (p.Arg374Leu) c.527G>T (p.Arg176Leu) | gnomAD v4 |
| 12 | g.72022452G>A | CA480768904 | TPH2 | c.1122G>A (p.Arg374=) c.528G>A (p.Arg176=) | |
| 12 | g.72022452G>C | CA480768906 | TPH2 | c.1122G>C (p.Arg374=) c.528G>C (p.Arg176=) | |
| 12 | g.72022452G>T | CA480768905 | TPH2 | c.1122G>T (p.Arg374=) c.528G>T (p.Arg176=) | |
| 12 | g.72022453G>A | CA385783804 | TPH2 | c.1123G>A (p.Ala375Thr) c.529G>A (p.Ala177Thr) | gnomAD v4 |
| 12 | g.72022453G>C | CA385783805 | TPH2 | c.1123G>C (p.Ala375Pro) c.529G>C (p.Ala177Pro) | |
| 12 | g.72022453G>T | CA385783806 | TPH2 | c.1123G>T (p.Ala375Ser) c.529G>T (p.Ala177Ser) | |
| 12 | g.72022454C>A | CA385783807 | TPH2 | c.1124C>A (p.Ala375Glu) c.530C>A (p.Ala177Glu) | gnomAD v4 |
| 12 | g.72022454C>G | CA385783808 | TPH2 | c.1124C>G (p.Ala375Gly) c.530C>G (p.Ala177Gly) | |
| 12 | g.72022454C>T | CA385783809 | TPH2 | c.1124C>T (p.Ala375Val) c.530C>T (p.Ala177Val) | |
| 12 | g.72022455A= | CA2045567449 | TPH2 | c.1125A= (p.Ala375=) c.531A= (p.Ala177=) | |
| 12 | g.72022455A>C | CA480768910 | TPH2 | c.1125A>C (p.Ala375=) c.531A>C (p.Ala177=) | |
| 12 | g.72022455A>G | CA480768911 | TPH2 | c.1125A>G (p.Ala375=) c.531A>G (p.Ala177=) | |
| 12 | g.72022455A>T | CA6689985 | TPH2 | c.1125A>T (p.Ala375=) c.531A>T (p.Ala177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.72022456T>A | CA385783812 | TPH2 | c.1126T>A (p.Tyr376Asn) c.532T>A (p.Tyr178Asn) | |
| 12 | g.72022456T>C | CA385783810 | TPH2 | c.1126T>C (p.Tyr376His) c.532T>C (p.Tyr178His) | |
| 12 | g.72022456T>G | CA385783811 | TPH2 | c.1126T>G (p.Tyr376Asp) c.532T>G (p.Tyr178Asp) | |
| 12 | g.72022457A>C | CA385783813 | TPH2 | c.1127A>C (p.Tyr376Ser) c.533A>C (p.Tyr178Ser) | |
| 12 | g.72022457A>G | CA385783814 | TPH2 | c.1127A>G (p.Tyr376Cys) c.533A>G (p.Tyr178Cys) | |
| 12 | g.72022457A>T | CA385783815 | TPH2 | c.1127A>T (p.Tyr376Phe) c.533A>T (p.Tyr178Phe) | |
| 12 | g.72022458del | CA2619889060 | TPH2 | c.1128del (p.Tyr376Ter) c.534del (p.Tyr178Ter) | gnomAD v4 |
| 12 | g.72022458T>A | CA385783816 | TPH2 | c.1128T>A (p.Tyr376Ter) c.534T>A (p.Tyr178Ter) | |
| 12 | g.72022458T>C | CA480768915 | TPH2 | c.1128T>C (p.Tyr376=) c.534T>C (p.Tyr178=) | |
| 12 | g.72022458T>G | CA385783817 | TPH2 | c.1128T>G (p.Tyr376Ter) c.534T>G (p.Tyr178Ter) | |
| 12 | g.72022459G>A | CA385783818 | TPH2 | c.1129G>A (p.Gly377Arg) c.535G>A (p.Gly179Arg) | |
| 12 | g.72022459G>C | CA385783819 | TPH2 | c.1129G>C (p.Gly377Arg) c.535G>C (p.Gly179Arg) | |
| 12 | g.72022459G>T | CA385783820 | TPH2 | c.1129G>T (p.Gly377Ter) c.535G>T (p.Gly179Ter) | |
| 12 | g.72022460G>A | CA385783821 | TPH2 | c.1130G>A (p.Gly377Glu) c.536G>A (p.Gly179Glu) | gnomAD v4 |
| 12 | g.72022460G>C | CA385783822 | TPH2 | c.1130G>C (p.Gly377Ala) c.536G>C (p.Gly179Ala) | |
| 12 | g.72022460G>T | CA385783823 | TPH2 | c.1130G>T (p.Gly377Val) c.536G>T (p.Gly179Val) | |
| 12 | g.72022461A>C | CA480768917 | TPH2 | c.1131A>C (p.Gly377=) c.537A>C (p.Gly179=) | |
| 12 | g.72022461A>G | CA480768918 | TPH2 | c.1131A>G (p.Gly377=) c.537A>G (p.Gly179=) | |
| 12 | g.72022461A>T | CA480768919 | TPH2 | c.1131A>T (p.Gly377=) c.537A>T (p.Gly179=) |