PPARG peroxisome proliferator activated receptor gamma

Canonical transcript: NM_005037

512 unique variant annotations were identified in 731 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
3-12329783-C-T c.-3+264C>T - intron_variant - 1/6 7
3-12330411-G-A c.-3+892G>A - intron_variant - 1/6 5
3-12331536-T-C c.-3+2017T>C - intron_variant - 1/6 1
3-12333495-C-G c.-3+3976C>G - intron_variant - 1/6 1
3-12334416-T-C c.-3+4897T>C - intron_variant - 1/6 26
3-12334555-C-T c.-3+5036C>T - intron_variant - 1/6 3
3-12334991-G-A c.-3+5472G>A - intron_variant - 1/6 5
3-12335081-G-A c.-3+5562G>A - intron_variant - 1/6 1
3-12335647-A-G c.-3+6128A>G - intron_variant - 1/6 2
3-12335647-A-T c.-3+6128A>T - intron_variant - 1/6 2
3-12335816-C-A c.-3+6297C>A - intron_variant - 1/6 4
3-12335816-C-T c.-3+6297C>T - intron_variant - 1/6 4
3-12336507-G-A c.-3+6988G>A - intron_variant - 1/6 19
3-12337875-T-C c.-3+8356T>C - intron_variant - 1/6 1
3-12338115-A-G c.-3+8596A>G - intron_variant - 1/6 3
3-12338254-C-A c.-3+8735C>A - intron_variant - 1/6 1
3-12338254-C-T c.-3+8735C>T - intron_variant - 1/6 1
3-12338849-A-G c.-3+9330A>G - intron_variant - 1/6 10
3-12340267-C-A c.-3+10748C>A - intron_variant - 1/6 5
3-12340925-T-C c.-3+11406T>C - intron_variant - 1/6 5
3-12341406-C-T c.-3+11887C>T - intron_variant - 1/6 1
3-12341830-A-G c.-3+12311A>G - intron_variant - 1/6 4
3-12341996-G-A c.-3+12477G>A - intron_variant - 1/6 4
3-12342861-G-A c.-3+13342G>A - intron_variant - 1/6 7
3-12342861-G-T c.-3+13342G>T - intron_variant - 1/6 7
3-12343117-A-C c.-3+13598A>C - intron_variant - 1/6 2
3-12343591-G-A c.-3+14072G>A - intron_variant - 1/6 3
3-12344441-A-C c.-3+14922A>C - intron_variant - 1/6 4
3-12344441-A-G c.-3+14922A>G - intron_variant - 1/6 4
3-12344636-A-G c.-3+15117A>G - intron_variant - 1/6 3
3-12344636-A-T c.-3+15117A>T - intron_variant - 1/6 3
3-12344730-C-G c.-3+15211C>G - intron_variant - 1/6 5
3-12345971-C-A c.-3+16452C>A - intron_variant - 1/6 4
3-12345971-C-G c.-3+16452C>G - intron_variant - 1/6 4
3-12346738-A-C c.-3+17219A>C - intron_variant - 1/6 4
3-12346849-G-A c.-3+17330G>A - intron_variant - 1/6 5
3-12346911-C-T c.-3+17392C>T - intron_variant - 1/6 2
3-12346962-G-A c.-3+17443G>A - intron_variant - 1/6 4
3-12346962-G-C c.-3+17443G>C - intron_variant - 1/6 4
3-12348581-T-A c.-3+19062T>A - intron_variant - 1/6 1
3-12348581-T-G c.-3+19062T>G - intron_variant - 1/6 1
3-12348835-G-A c.-3+19316G>A - intron_variant - 1/6 1
3-12349490-G-A c.-3+19971G>A - intron_variant - 1/6 3
3-12349924-T-C c.-3+20405T>C - intron_variant - 1/6 3
3-12350680-A-G c.-3+21161A>G - intron_variant - 1/6 1
3-12350781-A-G c.-3+21262A>G - intron_variant - 1/6 1
3-12351223-A-G c.-3+21704A>G - intron_variant - 1/6 5
3-12351521-T-G c.-3+22002T>G - intron_variant - 1/6 2
3-12351574-A-G c.-3+22055A>G - intron_variant - 1/6 2
3-12351746-A-G c.-3+22227A>G - intron_variant - 1/6 1
3-12352468-T-C c.-3+22949T>C - intron_variant - 1/6 3
3-12352971-C-G c.-3+23452C>G - intron_variant - 1/6 3
3-12353198-C-G c.-3+23679C>G - intron_variant - 1/6 40
3-12353275-A-G c.-3+23756A>G - intron_variant - 1/6 1
3-12353303-C-A c.-3+23784C>A - intron_variant - 1/6 1
3-12353303-C-T c.-3+23784C>T - intron_variant - 1/6 1
3-12353326-T-C c.-3+23807T>C - intron_variant - 1/6 4
3-12353612-T-A c.-3+24093T>A - intron_variant - 1/6 1
3-12353612-T-C c.-3+24093T>C - intron_variant - 1/6 1
3-12353993-G-A c.-3+24474G>A - intron_variant - 1/6 7
3-12353993-G-C c.-3+24474G>C - intron_variant - 1/6 7
3-12354411-T-C c.-3+24892T>C - intron_variant - 1/6 1
3-12354411-T-G c.-3+24892T>G - intron_variant - 1/6 1
3-12354826-A-G c.-3+25307A>G - intron_variant - 1/6 1
3-12356158-G-A c.-3+26639G>A - intron_variant - 1/6 2
3-12356196-T-C c.-3+26677T>C - intron_variant - 1/6 2
3-12356605-T-C c.-3+27086T>C - intron_variant - 1/6 2
3-12357832-A-G c.-3+28313A>G - intron_variant - 1/6 1
3-12357957-A-G c.-3+28438A>G - intron_variant - 1/6 1
3-12358016-A-G c.-3+28497A>G - intron_variant - 1/6 1
3-12358230-T-A c.-3+28711T>A - intron_variant - 1/6 1
3-12358492-G-A c.-3+28973G>A - intron_variant - 1/6 4
3-12359049-G-A c.-3+29530G>A - intron_variant - 1/6 5
3-12359056-A-G c.-3+29537A>G - intron_variant - 1/6 1
3-12360214-T-C c.-3+30695T>C - intron_variant - 1/6 5
3-12360494-C-T c.-3+30975C>T - intron_variant - 1/6 3
3-12360769-G-A c.-3+31250G>A - intron_variant - 1/6 1
3-12361295-T-C c.-3+31776T>C - intron_variant - 1/6 2
3-12361385-T-A c.-3+31866T>A - intron_variant - 1/6 1
3-12361385-T-C c.-3+31866T>C - intron_variant - 1/6 1
3-12361929-T-C c.-3+32410T>C - intron_variant - 1/6 2
3-12363291-A-G c.-3+33772A>G - intron_variant - 1/6 1
3-12363358-A-G c.-3+33839A>G - intron_variant - 1/6 1
3-12363637-G-A c.-3+34118G>A - intron_variant - 1/6 2
3-12363637-G-T c.-3+34118G>T - intron_variant - 1/6 2
3-12364377-T-C c.-3+34858T>C - intron_variant - 1/6 1
3-12365308-G-T c.-3+35789G>T - intron_variant - 1/6 7
3-12367105-A-T c.-3+37586A>T - intron_variant - 1/6 2
3-12368038-G-A c.-3+38519G>A - intron_variant - 1/6 4
3-12368038-G-T c.-3+38519G>T - intron_variant - 1/6 4
3-12368233-A-T c.-3+38714A>T - intron_variant - 1/6 2
3-12368887-T-C c.-3+39368T>C - intron_variant - 1/6 1
3-12369401-C-T c.-3+39882C>T - intron_variant - 1/6 7
3-12369799-C-T c.-3+40280C>T - intron_variant - 1/6 1
3-12370083-A-G c.-3+40564A>G - intron_variant - 1/6 9
3-12370737-A-G c.-3+41218A>G - intron_variant - 1/6 14
3-12371082-G-C c.-3+41563G>C - intron_variant - 1/6 3
3-12372074-A-G c.-3+42555A>G - intron_variant - 1/6 2
3-12372386-A-G c.-3+42867A>G - intron_variant - 1/6 2
3-12372386-A-T c.-3+42867A>T - intron_variant - 1/6 2
3-12372882-G-A c.-3+43363G>A - intron_variant - 1/6 4
3-12373094-G-A c.-3+43575G>A - intron_variant - 1/6 1
3-12375391-T-C c.-2-45812T>C - IntronicSNV - 1/6 1
3-12375712-T-A c.-2-45491T>A - IntronicSNV - 1/6 1
3-12376178-G-C c.-2-45025G>C - IntronicSNV - 1/6 1
3-12376427-A-G c.-2-44776A>G - IntronicSNV - 1/6 1
3-12376745-G-C c.-2-44458G>C - IntronicSNV - 1/6 6
3-12377294-C-G c.-2-43909C>G - IntronicSNV - 1/6 3
3-12377344-A-C c.-2-43859A>C - IntronicSNV - 1/6 1
3-12381165-T-C c.-2-40038T>C - IntronicSNV - 1/6 2
3-12381410-G-A c.-2-39793G>A - IntronicSNV - 1/6 1
3-12382964-A-G c.-2-38239A>G - IntronicSNV - 1/6 1
3-12383265-G-A c.-2-37938G>A - IntronicSNV - 1/6 1
3-12383599-T-C c.-2-37604T>C - IntronicSNV - 1/6 1
3-12383664-A-G c.-2-37539A>G - IntronicSNV - 1/6 1
3-12383714-G-A c.-2-37489G>A - IntronicSNV - 1/6 7
3-12384542-G-A c.-2-36661G>A - IntronicSNV - 1/6 6
3-12384599-T-C c.-2-36604T>C - IntronicSNV - 1/6 1
3-12384599-T-G c.-2-36604T>G - IntronicSNV - 1/6 1
3-12384870-C-G c.-2-36333C>G - IntronicSNV - 1/6 1
3-12385828-A-G c.-2-35375A>G - IntronicSNV - 1/6 7
3-12386337-C-T c.-2-34866C>T - IntronicSNV - 1/6 28
3-12387281-C-T c.-2-33922C>T - IntronicSNV - 1/6 1
3-12388409-G-A c.-2-32794G>A - IntronicSNV - 1/6 1
3-12388563-A-C c.-2-32640A>C - IntronicSNV - 1/6 13
3-12389313-A-G c.-2-31890A>G - IntronicSNV - 1/6 7
3-12390135-A-G c.-2-31068A>G - IntronicSNV - 1/6 11
3-12390484-T-C c.-2-30719T>C - IntronicSNV - 1/6 34
3-12390695-C-T c.-2-30508C>T - IntronicSNV - 1/6 1
3-12390713-C-T c.-2-30490C>T - IntronicSNV - 1/6 1
3-12391207-C-T c.-2-29996C>T - IntronicSNV - 1/6 13
3-12391583-G-A c.-2-29620G>A - IntronicSNV - 1/6 12
3-12391809-T-G c.-2-29394T>G - IntronicSNV - 1/6 1
3-12391813-G-A c.-2-29390G>A - IntronicSNV - 1/6 9
3-12392181-G-A c.-2-29022G>A - IntronicSNV - 1/6 3
3-12392181-G-T c.-2-29022G>T - IntronicSNV - 1/6 3
3-12392272-C-T c.-2-28931C>T - IntronicSNV - 1/6 18
3-12392296-A-G c.-2-28907A>G - IntronicSNV - 1/6 2
3-12392518-C-A c.-2-28685C>A - IntronicSNV - 1/6 1
3-12392649-G-A c.-2-28554G>A - IntronicSNV - 1/6 1
3-12392792-C-G c.-2-28411C>G - IntronicSNV - 1/6 1
3-12392792-C-T c.-2-28411C>T - IntronicSNV - 1/6 1
3-12393125-C-G c.-2-28078C>G - IntronicSNV - 1/6 759
3-12393199-T-C c.-2-28004T>C - IntronicSNV - 1/6 1
3-12393199-T-G c.-2-28004T>G - IntronicSNV - 1/6 1
3-12393317-C-T c.-2-27886C>T - IntronicSNV - 1/6 1
3-12393682-A-G c.-2-27521A>G - IntronicSNV - 1/6 3
3-12394601-G-A c.-2-26602G>A - IntronicSNV - 1/6 4
3-12394840-C-T c.-2-26363C>T - IntronicSNV - 1/6 15
3-12395005-T-A c.-2-26198T>A - IntronicSNV - 1/6 1
3-12395233-A-G c.-2-25970A>G - IntronicSNV - 1/6 1
3-12395645-G-A c.-2-25558G>A - IntronicSNV - 1/6 5
3-12395645-G-C c.-2-25558G>C - IntronicSNV - 1/6 5
3-12395958-G-A c.-2-25245G>A - IntronicSNV - 1/6 2
3-12396444-T-G c.-2-24759T>G - IntronicSNV - 1/6 2
3-12396588-G-A c.-2-24615G>A - IntronicSNV - 1/6 19
3-12396588-G-T c.-2-24615G>T - IntronicSNV - 1/6 19
3-12396845-A-G c.-2-24358A>G - IntronicSNV - 1/6 2
3-12396913-G-A c.-2-24290G>A - IntronicSNV - 1/6 2
3-12396955-G-A c.-2-24248G>A - IntronicSNV - 1/6 15
3-12397392-A-G c.-2-23811A>G - IntronicSNV - 1/6 11
3-12397838-T-A c.-2-23365T>A - IntronicSNV - 1/6 2
3-12397838-T-C c.-2-23365T>C - IntronicSNV - 1/6 2
3-12398636-C-T c.-2-22567C>T - IntronicSNV - 1/6 2
3-12399270-C-A c.-2-21933C>A - IntronicSNV - 1/6 2
3-12399270-C-T c.-2-21933C>T - IntronicSNV - 1/6 2
3-12399407-C-T c.-2-21796C>T - IntronicSNV - 1/6 6
3-12399542-A-G c.-2-21661A>G - IntronicSNV - 1/6 1
3-12399662-G-C c.-2-21541G>C - IntronicSNV - 1/6 1
3-12399662-G-T c.-2-21541G>T - IntronicSNV - 1/6 1
3-12400963-A-G c.-2-20240A>G - IntronicSNV - 1/6 2
3-12402007-A-G c.-2-19196A>G - IntronicSNV - 1/6 1
3-12402474-C-T c.-2-18729C>T - IntronicSNV - 1/6 4
3-12402540-A-G c.-2-18663A>G - IntronicSNV - 1/6 1
3-12402540-A-T c.-2-18663A>T - IntronicSNV - 1/6 1
3-12402582-T-C c.-2-18621T>C - IntronicSNV - 1/6 1
3-12402601-A-C c.-2-18602A>C - IntronicSNV - 1/6 4
3-12402601-A-G c.-2-18602A>G - IntronicSNV - 1/6 4
3-12402601-A-T c.-2-18602A>T - IntronicSNV - 1/6 4
3-12403731-G-A c.-2-17472G>A - IntronicSNV - 1/6 1
3-12404323-G-T c.-2-16880G>T - IntronicSNV - 1/6 1
3-12404490-T-C c.-2-16713T>C - IntronicSNV - 1/6 1
3-12404491-G-A c.-2-16712G>A - IntronicSNV - 1/6 1
3-12404999-T-TT c.-2-16204dup - IntronicInsertion - 1/6 1
3-12407366-A-G c.-2-13837A>G - IntronicSNV - 1/6 1
3-12408049-A-C c.-2-13154A>C - IntronicSNV - 1/6 1
3-12408049-A-G c.-2-13154A>G - IntronicSNV - 1/6 1
3-12408089-T-A c.-2-13114T>A - IntronicSNV - 1/6 1
3-12408278-A-G c.-2-12925A>G - IntronicSNV - 1/6 3
3-12408278-A-T c.-2-12925A>T - IntronicSNV - 1/6 3
3-12408519-G-A c.-2-12684G>A - IntronicSNV - 1/6 1
3-12408666-T-C c.-2-12537T>C - IntronicSNV - 1/6 1
3-12408758-G-A c.-2-12445G>A - IntronicSNV - 1/6 1
3-12408821-C-T c.-2-12382C>T - IntronicSNV - 1/6 1
3-12408905-A-G c.-2-12298A>G - IntronicSNV - 1/6 1
3-12408950-G-T c.-2-12253G>T - IntronicSNV - 1/6 2
3-12409528-A-G c.-2-11675A>G - IntronicSNV - 1/6 1
3-12410290-G-A c.-2-10913G>A - IntronicSNV - 1/6 1
3-12410349-C-T c.-2-10854C>T - IntronicSNV - 1/6 1
3-12410702-C-A c.-2-10501C>A - IntronicSNV - 1/6 2
3-12410702-C-T c.-2-10501C>T - IntronicSNV - 1/6 2
3-12411238-A-C c.-2-9965A>C - IntronicSNV - 1/6 4
3-12411727-T-G c.-2-9476T>G - IntronicSNV - 1/6 2
3-12412115-G-A c.-2-9088G>A - IntronicSNV - 1/6 6
3-12412955-A-G c.-2-8248A>G - IntronicSNV - 1/6 1
3-12413237-C-T c.-2-7966C>T - IntronicSNV - 1/6 1
3-12413339-T-G c.-2-7864T>G - IntronicSNV - 1/6 14
3-12413536-T-G c.-2-7667T>G - IntronicSNV - 1/6 1
3-12414325-C-T c.-2-6878C>T - IntronicSNV - 1/6 1
3-12414420-T-C c.-2-6783T>C - IntronicSNV - 1/6 4
3-12414478-A-C c.-2-6725A>C - IntronicSNV - 1/6 1
3-12414627-A-C c.-2-6576A>C - IntronicSNV - 1/6 1
3-12414627-A-G c.-2-6576A>G - IntronicSNV - 1/6 1
3-12416182-A-G c.-2-5021A>G - IntronicSNV - 1/6 1
3-12416219-A-G c.-2-4984A>G - IntronicSNV - 1/6 1
3-12416550-A-G c.-2-4653A>G - IntronicSNV - 1/6 1
3-12418604-C-T c.-2-2599C>T - IntronicSNV - 1/6 1
3-12418612-C-T c.-2-2591C>T - IntronicSNV - 1/6 5
3-12418759-T-C c.-2-2444T>C - IntronicSNV - 1/6 1
3-12419091-C-A c.-2-2112C>A - IntronicSNV - 1/6 1
3-12419475-T-A c.-2-1728T>A - IntronicSNV - 1/6 2
3-12419475-T-C c.-2-1728T>C - IntronicSNV - 1/6 2
3-12421056-G-T c.-2-147G>T - IntronicSNV - 1/6 6
3-12421089-C-T c.-2-114C>T - IntronicSNV - 1/6 1
3-12421135-C-T c.-70C>T - IntronicSNV 1/7 - 1
3-12421166-G-A c.-39G>A - IntronicSNV 1/7 - 1
3-12421210-C-A c.6C>A p.Thr2Thr Synonymous 2/7 - 1
3-12421210-C-G c.6C>G p.Thr2Thr Synonymous 2/7 - 1
3-12421210-C-T c.6C>T p.Thr2Thr Synonymous 2/7 - 1
3-12421238-C-G c.34C>G p.Pro12Ala Missense 2/7 - 437
3-12421240-C-G c.36C>G p.Pro12Pro Synonymous 2/7 - 25
3-12421250-G-A c.46G>A p.Gly16Arg Missense 2/7 - 3
3-12421250-G-C c.46G>C p.Gly16Arg Missense 2/7 - 3
3-12421253-A-T c.49A>T p.Ile17Phe Missense 2/7 - 1
3-12421256-AG-GA c.52_53delinsGA p.Ser18Asp Missense 2/7 - 1
3-12421256-AG-GC c.52_53delinsGC p.Ser18Ala Missense 2/7 - 1
3-12421256-A-T c.52A>T p.Ser18Cys Missense 2/7 - 1
3-12421259-T-G c.55T>G p.Ser19Ala Missense 2/7 - 1
3-12421260-C-G c.56C>G p.Ser19Cys Missense 2/7 - 1
3-12421292-C-T c.88C>T p.His30Tyr Missense 2/7 - 1
3-12421295-TC-CG c.91_92delinsCG p.Ser31Arg Missense 2/7 - 1
3-12421319-A-G c.115A>G p.Thr39Ala Missense 2/7 - 1
3-12421337-A-T c.133A>T p.Ile45Phe Missense 2/7 - 2
3-12421343-AC-GA c.139_140delinsGA p.Thr47Asp Missense 2/7 - 15
3-12421347-CA-AT c.143_144delinsAT p.Pro48His Missense 2/7 - 1
3-12421402-G-C c.198G>C p.Lys66Asn Missense 2/7 - 1
3-12421404-A-G c.200A>G p.Tyr67Cys Missense 2/7 - 1
3-12421406-G-A c.202G>A p.Asp68Asn Missense 2/7 - 1
3-12421415-CTT-ATG c.211_213delinsATG p.Leu71Met Missense 2/7 - 1
3-12421492-A-C c.226+62A>C - IntronicSNV - 2/6 1
3-12422488-C-T c.227-333C>T - IntronicSNV - 2/6 1
3-12422830-A-G c.236A>G p.Lys79Arg Missense 3/7 - 1
3-12422844-T-G c.250T>G p.Ser84Ala Missense 3/7 - 1
3-12422848-C-A c.254C>A p.Pro85Gln Missense 3/7 - 11
3-12422877-T-A c.283T>A p.Tyr95Asn Missense 3/7 - 1
3-12422878-A-G c.284A>G p.Tyr95Cys Missense 3/7 - 2
3-12422887-C-T c.293C>T p.Pro98Leu Missense 3/7 - 1
3-12422901-T-A c.307T>A p.Ser103Thr Missense 3/7 - 1
3-12422901-TC-GG c.307_308delinsGG p.Ser103Gly Missense 3/7 - 1
3-12422920-T-A c.326T>A p.Ile109Asn Missense 3/7 - 1
3-12422923-A-G c.329A>G p.Glu110Gly Missense 3/7 - 1
3-12422929-G-A c.335G>A p.Arg112His Missense 3/7 - 1
3-12422931-G-A c.337G>A p.Val113Ile Missense 3/7 - 1
3-12422934-T-C c.340T>C p.Cys114Arg Missense 3/7 - 4
3-12422941-A-G c.347A>G p.Asp116Gly Missense 3/7 - 1
3-12422961-TA-CC c.367_368delinsCC p.Tyr123Pro Missense 3/7 - 1
3-12422962-A-G c.368A>G p.Tyr123Cys Missense 3/7 - 1
3-12422986-G-A c.392G>A p.Cys131Tyr Missense 3/7 - 4
3-12423038-T-C c.396+48T>C - IntronicSNV - 3/6 1
3-12423113-G-C c.396+123G>C - IntronicSNV - 3/6 1
3-12423266-T-C c.396+276T>C - IntronicSNV - 3/6 10
3-12424502-A-T c.396+1512A>T - IntronicSNV - 3/6 1
3-12424793-T-C c.396+1803T>C - IntronicSNV - 3/6 10
3-12425285-G-A c.396+2295G>A - IntronicSNV - 3/6 1
3-12426936-G-A c.396+3946G>A - IntronicSNV - 3/6 9
3-12426936-G-T c.396+3946G>T - IntronicSNV - 3/6 9
3-12429165-T-C c.397-4948T>C - IntronicSNV - 3/6 1
3-12429468-G-A c.397-4645G>A - IntronicSNV - 3/6 10
3-12429468-G-C c.397-4645G>C - IntronicSNV - 3/6 10
3-12429745-G-A c.397-4368G>A - IntronicSNV - 3/6 1
3-12429810-A-G c.397-4303A>G - IntronicSNV - 3/6 1
3-12429983-G-A c.397-4130G>A - IntronicSNV - 3/6 1
3-12430075-T-A c.397-4038T>A - IntronicSNV - 3/6 2
3-12430075-T-C c.397-4038T>C - IntronicSNV - 3/6 2
3-12430216-A-G c.397-3897A>G - IntronicSNV - 3/6 1
3-12431550-A-T c.397-2563A>T - IntronicSNV - 3/6 1
3-12431568-G-A c.397-2545G>A - IntronicSNV - 3/6 2
3-12432068-C-A c.397-2045C>A - IntronicSNV - 3/6 1
3-12432068-C-T c.397-2045C>T - IntronicSNV - 3/6 1
3-12433298-A-C c.397-815A>C - IntronicSNV - 3/6 1
3-12433298-A-G c.397-815A>G - IntronicSNV - 3/6 1
3-12434091-C-A c.397-22C>A - IntronicSNV - 3/6 2
3-12434115-T-C c.399T>C p.Gly133Gly Synonymous 4/7 - 1
3-12434134-AGA-CAT c.418_420delinsCAT p.Arg140His Missense 4/7 - 1
3-12434168-A-G c.452A>G p.Asn151Ser Missense 4/7 - 1
3-12434170-T-C c.454T>C p.Cys152Arg Missense 4/7 - 1
3-12434173-C-T c.457C>T p.Arg153Trp Missense 4/7 - 1
3-12434181-AC-A c.465del p.His155Glnfs*50 Frameshift 4/7 - 1
3-12434195-A-G c.479A>G p.Asn160Ser Missense 4/7 - 1
3-12434200-T-A c.484T>A p.Cys162Ser Missense 4/7 - 1
3-12434202-T-G c.486T>G p.Cys162Trp Missense 4/7 - 3
3-12434212-C-T c.496C>T p.Arg166Trp Missense 4/7 - 3
3-12434236-GGG-TGT c.520_522delinsTGT p.Gly174Cys Missense 4/7 - 3
3-12434239-A-G c.523A>G p.Met175Val Missense 4/7 - 1
3-12434245-C-T c.529C>T p.His177Tyr Missense 4/7 - 1
3-12434272-A-G c.535+21A>G - IntronicSNV - 4/6 3
3-12434272-A-T c.535+21A>T - IntronicSNV - 4/6 3
3-12434608-G-A c.535+357G>A - IntronicSNV - 4/6 15
3-12434608-G-T c.535+357G>T - IntronicSNV - 4/6 15
3-12434725-T-C c.535+474T>C - IntronicSNV - 4/6 1
3-12434733-C-T c.535+482C>T - IntronicSNV - 4/6 1
3-12434741-C-G c.535+490C>G - IntronicSNV - 4/6 1
3-12434901-C-T c.535+650C>T - IntronicSNV - 4/6 9
3-12436157-T-G c.535+1906T>G - IntronicSNV - 4/6 1
3-12437237-C-G c.535+2986C>G - IntronicSNV - 4/6 17
3-12437396-G-A c.535+3145G>A - IntronicSNV - 4/6 4
3-12437396-G-T c.535+3145G>T - IntronicSNV - 4/6 4
3-12437533-G-C c.535+3282G>C - IntronicSNV - 4/6 1
3-12438448-G-T c.535+4197G>T - IntronicSNV - 4/6 1
3-12439314-A-G c.535+5063A>G - IntronicSNV - 4/6 1
3-12439329-G-A c.535+5078G>A - IntronicSNV - 4/6 1
3-12439348-C-G c.535+5097C>G - IntronicSNV - 4/6 1
3-12439348-C-T c.535+5097C>T - IntronicSNV - 4/6 1
3-12439387-C-T c.535+5136C>T - IntronicSNV - 4/6 2
3-12439687-A-T c.535+5436A>T - IntronicSNV - 4/6 1
3-12441367-T-A c.536-6014T>A - IntronicSNV - 4/6 1
3-12441367-T-G c.536-6014T>G - IntronicSNV - 4/6 1
3-12441553-G-A c.536-5828G>A - IntronicSNV - 4/6 1
3-12441553-G-T c.536-5828G>T - IntronicSNV - 4/6 1
3-12442578-T-A c.536-4803T>A - IntronicSNV - 4/6 2
3-12442578-T-G c.536-4803T>G - IntronicSNV - 4/6 2
3-12442731-A-G c.536-4650A>G - IntronicSNV - 4/6 9
3-12442833-T-G c.536-4548T>G - IntronicSNV - 4/6 12
3-12443657-C-T c.536-3724C>T - IntronicSNV - 4/6 6
3-12443844-A-G c.536-3537A>G - IntronicSNV - 4/6 24
3-12443877-C-G c.536-3504C>G - IntronicSNV - 4/6 4
3-12444275-C-G c.536-3106C>G - IntronicSNV - 4/6 1
3-12445807-C-A c.536-1574C>A - IntronicSNV - 4/6 13
3-12445830-C-T c.536-1551C>T - IntronicSNV - 4/6 1
3-12445846-G-A c.536-1535G>A - IntronicSNV - 4/6 1
3-12445846-G-C c.536-1535G>C - IntronicSNV - 4/6 1
3-12446004-A-G c.536-1377A>G - IntronicSNV - 4/6 2
3-12446468-G-A c.536-913G>A - IntronicSNV - 4/6 1
3-12446481-G-C c.536-900G>C - IntronicSNV - 4/6 1
3-12446481-G-T c.536-900G>T - IntronicSNV - 4/6 1
3-12446492-A-G c.536-889A>G - IntronicSNV - 4/6 1
3-12447153-G-T c.536-228G>T - IntronicSNV - 4/6 9
3-12447268-G-A c.536-113G>A - IntronicSNV - 4/6 1
3-12447348-A-G c.536-33A>G - IntronicSNV - 4/6 1
3-12447386-A-G c.541A>G p.Arg181Gly Missense 5/7 - 1
3-12447386-AGG-GAC c.541_543delinsGAC p.Arg181Asp Missense 5/7 - 1
3-12447395-C-T c.550C>T p.Arg184Trp Missense 5/7 - 1
3-12447397-G-C c.552G>C p.Arg184Arg Synonymous 5/7 - 1
3-12447471-C-T c.626C>T p.Ala209Val Missense 5/7 - 1
3-12447479-C-T c.634C>T p.Arg212Trp Missense 5/7 - 1
3-12447521-T-G c.676T>G p.Phe226Val Missense 5/7 - 1
3-12447539-AA-GC c.694_695delinsGC p.Lys232Ala Missense 5/7 - 2
3-12447541-G-GC c.696_697insC p.Ala233Argfs*19 Frameshift 5/7 - 1
3-12447548-G-A c.703G>A p.Ala235Thr Missense 5/7 - 1
3-12447557-A-T c.712A>T p.Thr238Ser Missense 5/7 - 1
3-12447814-C-G c.735+234C>G - IntronicSNV - 5/6 1
3-12447895-C-T c.735+315C>T - IntronicSNV - 5/6 1
3-12447950-T-C c.735+370T>C - IntronicSNV - 5/6 1
3-12447964-G-A c.735+384G>A - IntronicSNV - 5/6 2
3-12448142-G-A c.735+562G>A - IntronicSNV - 5/6 1
3-12448299-G-A c.735+719G>A - IntronicSNV - 5/6 1
3-12448299-G-C c.735+719G>C - IntronicSNV - 5/6 1
3-12448498-T-C c.735+918T>C - IntronicSNV - 5/6 1
3-12448994-T-C c.735+1414T>C - IntronicSNV - 5/6 8
3-12449013-A-G c.735+1433A>G - IntronicSNV - 5/6 1
3-12449026-T-C c.735+1446T>C - IntronicSNV - 5/6 1
3-12449453-C-T c.735+1873C>T - IntronicSNV - 5/6 1
3-12449528-G-T c.735+1948G>T - IntronicSNV - 5/6 8
3-12449559-T-C c.735+1979T>C - IntronicSNV - 5/6 1
3-12449651-C-A c.735+2071C>A - IntronicSNV - 5/6 1
3-12449683-G-C c.735+2103G>C - IntronicSNV - 5/6 3
3-12449793-C-A c.735+2213C>A - IntronicSNV - 5/6 5
3-12449866-G-A c.735+2286G>A - IntronicSNV - 5/6 3
3-12449963-G-A c.735+2383G>A - IntronicSNV - 5/6 8
3-12450093-G-A c.735+2513G>A - IntronicSNV - 5/6 5
3-12450093-G-T c.735+2513G>T - IntronicSNV - 5/6 5
3-12450354-G-A c.735+2774G>A - IntronicSNV - 5/6 10
3-12450354-G-T c.735+2774G>T - IntronicSNV - 5/6 10
3-12451337-C-G c.735+3757C>G - IntronicSNV - 5/6 7
3-12451337-C-T c.735+3757C>T - IntronicSNV - 5/6 7
3-12451593-G-A c.735+4013G>A - IntronicSNV - 5/6 1
3-12452388-T-A c.735+4808T>A - IntronicSNV - 5/6 1
3-12454505-T-G c.736-3698T>G - IntronicSNV - 5/6 1
3-12454621-A-T c.736-3582A>T - IntronicSNV - 5/6 1
3-12454999-C-T c.736-3204C>T - IntronicSNV - 5/6 6
3-12456456-T-G c.736-1747T>G - IntronicSNV - 5/6 1
3-12456834-A-T c.736-1369A>T - IntronicSNV - 5/6 6
3-12457119-G-A c.736-1084G>A - IntronicSNV - 5/6 1
3-12457324-A-G c.736-879A>G - IntronicSNV - 5/6 1
3-12457461-G-A c.736-742G>A - IntronicSNV - 5/6 1
3-12458208-C-G c.741C>G p.Phe247Leu Missense 6/7 - 3
3-12458208-C-T c.741C>T p.Phe247Phe Synonymous 6/7 - 3
3-12458209-G-A c.742G>A p.Val248Ile Missense 6/7 - 2
3-12458239-GGA-AGC c.772_774delinsAGC p.Gly258Ser Missense 6/7 - 1
3-12458274-C-A c.807C>A p.Pro269Pro Synonymous 6/7 - 8
3-12458274-C-G c.807C>G p.Pro269Pro Synonymous 6/7 - 8
3-12458274-C-T c.807C>T p.Pro269Pro Synonymous 6/7 - 8
3-12458293-G-A c.826G>A p.Glu276Lys Missense 6/7 - 1
3-12458293-G-C c.826G>C p.Glu276Gln Missense 6/7 - 1
3-12458305-C-T c.838C>T p.Arg280Cys Missense 6/7 - 2
3-12458306-G-A c.839G>A p.Arg280His Missense 6/7 - 1
3-12458320-T-A c.853T>A p.Cys285Ser Missense 6/7 - 1
3-12458320-TG-GC c.853_854delinsGC p.Cys285Ala Missense 6/7 - 1
3-12458321-G-C c.854G>C p.Cys285Ser Missense 6/7 - 1
3-12458321-G-A c.854G>A p.Cys285Tyr Missense 6/7 - 1
3-12458323-C-G c.856C>G p.Gln286Glu Missense 6/7 - 1
3-12458324-A-C c.857A>C p.Gln286Pro Missense 6/7 - 9
3-12458327-T-A c.860T>A p.Phe287Tyr Missense 6/7 - 1
3-12458329-CGC-AAG c.862_864delinsAAG p.Arg288Lys Missense 6/7 - 1
3-12458329-CGC-ATG c.862_864delinsATG p.Arg288Met Missense 6/7 - 1
3-12458329-CG-GC c.862_863delinsGC p.Arg288Ala Missense 6/7 - 3
3-12458329-C-T c.862C>T p.Arg288Cys Missense 6/7 - 1
3-12458330-G-A c.863G>A p.Arg288His Missense 6/7 - 7
3-12458333-C-G c.866C>G p.Ser289Cys Missense 6/7 - 3
3-12458334-C-T c.867C>T p.Ser289Ser Synonymous 6/7 - 2
3-12458335-G-A c.868G>A p.Val290Met Missense 6/7 - 21
3-12458361-G-T c.894G>T p.Glu298Asp Missense 6/7 - 11
3-12458367-C-A c.900C>A p.Ala300Ala Synonymous 6/7 - 1
3-12458386-G-C c.919G>C p.Val307Leu Missense 6/7 - 1
3-12458408-A-C c.941A>C p.Gln314Pro Missense 6/7 - 1
3-12458422-A-T c.955A>T p.Lys319* Nonsense 6/7 - 4
3-12458434-C-T c.967C>T p.His323Tyr Missense 6/7 - 1
3-12458476-GA-AC c.1009_1010delinsAC p.Asp337Thr Missense 6/7 - 1
3-12458493-C-T c.1026C>T p.Ser342Ser Synonymous 6/7 - 1
3-12458494-G-A c.1027G>A p.Glu343Lys Missense 6/7 - 2
3-12458506-TT-GC c.1039_1040delinsGC p.Phe347Ala Missense 6/7 - 1
3-12458536-C-T c.1069C>T p.Arg357* Nonsense 6/7 - 4
3-12458547-T-A c.1080T>A p.Phe360Leu Missense 6/7 - 4
3-12458578-G-A c.1111G>A p.Ala371Thr Missense 6/7 - 1
3-12458641-A-C c.1174A>C p.Ile392Leu Missense 6/7 - 1
3-12461368-C-T c.1186+2715C>T - IntronicSNV - 6/6 1
3-12461548-A-G c.1186+2895A>G - IntronicSNV - 6/6 1
3-12461615-G-A c.1186+2962G>A - IntronicSNV - 6/6 4
3-12461640-C-T c.1186+2987C>T - IntronicSNV - 6/6 1
3-12461932-T-G c.1186+3279T>G - IntronicSNV - 6/6 1
3-12462024-G-A c.1186+3371G>A - IntronicSNV - 6/6 15
3-12463176-A-G c.1186+4523A>G - IntronicSNV - 6/6 20
3-12463717-G-A c.1186+5064G>A - IntronicSNV - 6/6 1
3-12463826-A-T c.1186+5173A>T - IntronicSNV - 6/6 4
3-12463970-T-C c.1186+5317T>C - IntronicSNV - 6/6 1
3-12465243-C-A c.1186+6590C>A - IntronicSNV - 6/6 15
3-12465488-C-A c.1186+6835C>A - IntronicSNV - 6/6 6
3-12465488-C-T c.1186+6835C>T - IntronicSNV - 6/6 6
3-12465956-G-A c.1186+7303G>A - IntronicSNV - 6/6 1
3-12466214-G-A c.1186+7561G>A - IntronicSNV - 6/6 10
3-12466433-A-G c.1186+7780A>G - IntronicSNV - 6/6 15
3-12466490-A-G c.1186+7837A>G - IntronicSNV - 6/6 6
3-12466596-T-C c.1186+7943T>C - IntronicSNV - 6/6 1
3-12466783-G-A c.1186+8130G>A - IntronicSNV - 6/6 1
3-12466939-C-G c.1186+8286C>G - IntronicSNV - 6/6 1
3-12466939-C-T c.1186+8286C>T - IntronicSNV - 6/6 1
3-12467044-C-T c.1187-8353C>T - IntronicSNV - 6/6 18
3-12467543-T-C c.1187-7854T>C - IntronicSNV - 6/6 1
3-12467613-A-G c.1187-7784A>G - IntronicSNV - 6/6 2
3-12467827-G-A c.1187-7570G>A - IntronicSNV - 6/6 1
3-12468118-G-A c.1187-7279G>A - IntronicSNV - 6/6 1
3-12468273-G-A c.1187-7124G>A - IntronicSNV - 6/6 1
3-12468286-A-G c.1187-7111A>G - IntronicSNV - 6/6 1
3-12468299-C-G c.1187-7098C>G - IntronicSNV - 6/6 1
3-12468463-C-T c.1187-6934C>T - IntronicSNV - 6/6 3
3-12468589-C-G c.1187-6808C>G - IntronicSNV - 6/6 5
3-12468627-G-T c.1187-6770G>T - IntronicSNV - 6/6 1
3-12468690-A-G c.1187-6707A>G - IntronicSNV - 6/6 1
3-12468690-A-T c.1187-6707A>T - IntronicSNV - 6/6 1
3-12469449-G-A c.1187-5948G>A - IntronicSNV - 6/6 1
3-12469667-G-A c.1187-5730G>A - IntronicSNV - 6/6 2
3-12469718-G-A c.1187-5679G>A - IntronicSNV - 6/6 1
3-12470019-C-G c.1187-5378C>G - IntronicSNV - 6/6 1
3-12470043-G-A c.1187-5354G>A - IntronicSNV - 6/6 1
3-12470239-A-C c.1187-5158A>C - IntronicSNV - 6/6 25
3-12470314-A-G c.1187-5083A>G - IntronicSNV - 6/6 2
3-12470441-C-A c.1187-4956C>A - IntronicSNV - 6/6 1
3-12470441-C-T c.1187-4956C>T - IntronicSNV - 6/6 1
3-12470663-G-A c.1187-4734G>A - IntronicSNV - 6/6 1
3-12471070-A-G c.1187-4327A>G - IntronicSNV - 6/6 1
3-12471330-T-G c.1187-4067T>G - IntronicSNV - 6/6 1
3-12471362-A-G c.1187-4035A>G - IntronicSNV - 6/6 1
3-12471862-G-A c.1187-3535G>A - IntronicSNV - 6/6 3
3-12471871-C-T c.1187-3526C>T - IntronicSNV - 6/6 4
3-12472095-G-A c.1187-3302G>A - IntronicSNV - 6/6 1
3-12473971-G-T c.1187-1426G>T - IntronicSNV - 6/6 1
3-12475088-C-A c.1187-309C>A - IntronicSNV - 6/6 9
3-12475088-C-T c.1187-309C>T - IntronicSNV - 6/6 9
3-12475162-A-C c.1187-235A>C - IntronicSNV - 6/6 3
3-12475399-C-T c.1189C>T p.Arg397Cys Missense 7/7 - 9
3-12475418-T-C c.1208T>C p.Val403Ala Missense 7/7 - 1
3-12475440-A-G c.1230A>G p.Gln410Gln Synonymous 7/7 - 2
3-12475445-A-G c.1235A>G p.Asn412Ser Missense 7/7 - 1
3-12475452-A-G c.1242A>G p.Leu414Leu Synonymous 7/7 - 1
3-12475474-A-C c.1264A>C p.Lys422Gln Missense 7/7 - 4
3-12475478-T-C c.1268T>C p.Leu423Pro Missense 7/7 - 1
3-12475483-C-T c.1273C>T p.His425Tyr Missense 7/7 - 1
3-12475487-C-T c.1277C>T p.Pro426Leu Missense 7/7 - 1
3-12475490-A-C c.1280A>C p.Glu427Ala Missense 7/7 - 1
3-12475490-A-G c.1280A>G p.Glu427Gly Missense 7/7 - 1
3-12475497-A-G c.1287A>G p.Ser429Ser Synonymous 7/7 - 2
3-12475523-A-C c.1313A>C p.Lys438Thr Missense 7/7 - 1
3-12475550-C-T c.1340C>T p.Thr447Met Missense 7/7 - 2
3-12475552-GAA-CAT c.1342_1344delinsCAT p.Glu448His Missense 7/7 - 1
3-12475555-C-T c.1345C>T p.His449Tyr Missense 7/7 - 1
3-12475557-C-T c.1347C>T p.His449His Synonymous 7/7 - 167
3-12475592-CA-AC c.1382_1383delinsAC p.Thr461Asn Missense 7/7 - 1
3-12475610-C-A c.1400C>A p.Pro467Gln Missense 7/7 - 3
3-12475610-C-T c.1400C>T p.Pro467Leu Missense 7/7 - 37
3-12475612-CT-GC c.1402_1403delinsGC p.Leu468Ala Missense 7/7 - 5
3-12475622-A-C c.1412A>C p.Glu471Ala Missense 7/7 - 4
3-12475641-C-T c.1431C>T p.Tyr477Tyr Synonymous 7/7 - 1