GALNT2 polypeptide N-acetylgalactosaminyltransferase 2

Canonical transcript: NM_004481

325 unique variant annotations were identified in 329 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-230203031-C-A c.4C>A p.Arg2Arg Synonymous 1/16 - 2
1-230203033-G-A c.6G>A p.Arg2Arg Synonymous 1/16 - 2
1-230203033-G-C c.6G>C p.Arg2Arg Synonymous 1/16 - 2
1-230203033-G-T c.6G>T p.Arg2Arg Synonymous 1/16 - 2
1-230203058-TT-CG c.31_32delinsCG p.Phe11Arg Missense 1/16 - 1
1-230203100-TCG-AAC c.73_75delinsAAC p.Ser25Asn Missense 1/16 - 1
1-230203110-G-A c.83G>A p.Gly28Asp Missense 1/16 - 1
1-230207407-C-T c.126+4254C>T - IntronicSNV - 1/15 1
1-230207433-A-C c.126+4280A>C - IntronicSNV - 1/15 1
1-230207433-A-T c.126+4280A>T - IntronicSNV - 1/15 1
1-230209790-T-C c.126+6637T>C - IntronicSNV - 1/15 1
1-230210718-C-G c.126+7565C>G - IntronicSNV - 1/15 1
1-230214319-C-T c.126+11166C>T - IntronicSNV - 1/15 1
1-230219470-A-G c.126+16317A>G - IntronicSNV - 1/15 1
1-230221165-G-A c.126+18012G>A - IntronicSNV - 1/15 2
1-230221783-C-G c.126+18630C>G - IntronicSNV - 1/15 1
1-230226386-G-A c.126+23233G>A - IntronicSNV - 1/15 1
1-230227289-G-C c.126+24136G>C - IntronicSNV - 1/15 1
1-230231256-C-T c.126+28103C>T - IntronicSNV - 1/15 2
1-230232241-T-A c.126+29088T>A - IntronicSNV - 1/15 1
1-230232241-T-C c.126+29088T>C - IntronicSNV - 1/15 1
1-230232790-G-A c.126+29637G>A - IntronicSNV - 1/15 1
1-230232790-G-T c.126+29637G>T - IntronicSNV - 1/15 1
1-230235032-G-A c.126+31879G>A - IntronicSNV - 1/15 3
1-230235032-G-T c.126+31879G>T - IntronicSNV - 1/15 3
1-230235609-C-T c.126+32456C>T - IntronicSNV - 1/15 1
1-230236320-G-A c.126+33167G>A - IntronicSNV - 1/15 1
1-230236320-G-T c.126+33167G>T - IntronicSNV - 1/15 1
1-230237103-A-G c.126+33950A>G - IntronicSNV - 1/15 3
1-230238821-C-T c.126+35668C>T - IntronicSNV - 1/15 2
1-230241456-G-A c.126+38303G>A - IntronicSNV - 1/15 1
1-230241787-G-A c.126+38634G>A - IntronicSNV - 1/15 1
1-230242580-C-T c.126+39427C>T - IntronicSNV - 1/15 1
1-230244458-A-G c.126+41305A>G - IntronicSNV - 1/15 1
1-230244966-A-G c.126+41813A>G - IntronicSNV - 1/15 1
1-230245200-T-A c.126+42047T>A - IntronicSNV - 1/15 1
1-230245200-T-C c.126+42047T>C - IntronicSNV - 1/15 1
1-230245900-T-C c.126+42747T>C - IntronicSNV - 1/15 2
1-230247123-G-A c.126+43970G>A - IntronicSNV - 1/15 1
1-230257814-G-A c.126+54661G>A - IntronicSNV - 1/15 1
1-230259718-G-A c.127-54246G>A - IntronicSNV - 1/15 1
1-230262536-C-A c.127-51428C>A - IntronicSNV - 1/15 1
1-230262751-G-A c.127-51213G>A - IntronicSNV - 1/15 1
1-230263373-G-A c.127-50591G>A - IntronicSNV - 1/15 1
1-230263373-G-T c.127-50591G>T - IntronicSNV - 1/15 1
1-230263844-T-C c.127-50120T>C - IntronicSNV - 1/15 1
1-230263844-T-G c.127-50120T>G - IntronicSNV - 1/15 1
1-230264607-G-A c.127-49357G>A - IntronicSNV - 1/15 1
1-230264607-G-T c.127-49357G>T - IntronicSNV - 1/15 1
1-230265342-T-C c.127-48622T>C - IntronicSNV - 1/15 1
1-230265677-T-A c.127-48287T>A - IntronicSNV - 1/15 1
1-230265677-T-G c.127-48287T>G - IntronicSNV - 1/15 1
1-230278291-C-G c.127-35673C>G - IntronicSNV - 1/15 1
1-230278467-T-TCCAT c.127-35497_127-35496insCCAT - IntronicInsertion - 1/15 1
1-230278467-T-TCCGT c.127-35497_127-35496insCCGT - IntronicInsertion - 1/15 1
1-230278467-T-TCTGT c.127-35497_127-35496insCTGT - IntronicInsertion - 1/15 1
1-230278467-T-TTCCG c.127-35497_127-35496insTCCG - IntronicInsertion - 1/15 1
1-230278826-A-G c.127-35138A>G - IntronicSNV - 1/15 2
1-230278892-C-T c.127-35072C>T - IntronicSNV - 1/15 1
1-230278979-G-A c.127-34985G>A - IntronicSNV - 1/15 1
1-230279011-C-G c.127-34953C>G - IntronicSNV - 1/15 1
1-230279011-C-T c.127-34953C>T - IntronicSNV - 1/15 1
1-230279058-G-A c.127-34906G>A - IntronicSNV - 1/15 1
1-230279058-G-T c.127-34906G>T - IntronicSNV - 1/15 1
1-230279067-G-T c.127-34897G>T - IntronicSNV - 1/15 1
1-230279090-T-C c.127-34874T>C - IntronicSNV - 1/15 2
1-230279169-G-A c.127-34795G>A - IntronicSNV - 1/15 1
1-230279319-A-G c.127-34645A>G - IntronicSNV - 1/15 1
1-230279410-G-A c.127-34554G>A - IntronicSNV - 1/15 6
1-230279582-A-G c.127-34382A>G - IntronicSNV - 1/15 1
1-230280198-T-A c.127-33766T>A - IntronicSNV - 1/15 2
1-230280198-T-C c.127-33766T>C - IntronicSNV - 1/15 2
1-230280366-A-G c.127-33598A>G - IntronicSNV - 1/15 1
1-230280513-T-C c.127-33451T>C - IntronicSNV - 1/15 1
1-230280522-T-A c.127-33442T>A - IntronicSNV - 1/15 1
1-230280522-T-C c.127-33442T>C - IntronicSNV - 1/15 1
1-230281068-G-A c.127-32896G>A - IntronicSNV - 1/15 1
1-230281068-G-T c.127-32896G>T - IntronicSNV - 1/15 1
1-230281156-G-A c.127-32808G>A - IntronicSNV - 1/15 2
1-230281316-G-A c.127-32648G>A - IntronicSNV - 1/15 1
1-230281316-G-T c.127-32648G>T - IntronicSNV - 1/15 1
1-230281618-G-A c.127-32346G>A - IntronicSNV - 1/15 1
1-230281953-A-G c.127-32011A>G - IntronicSNV - 1/15 1
1-230281953-A-T c.127-32011A>T - IntronicSNV - 1/15 1
1-230282853-C-T c.127-31111C>T - IntronicSNV - 1/15 1
1-230282997-C-A c.127-30967C>A - IntronicSNV - 1/15 1
1-230283506-G-A c.127-30458G>A - IntronicSNV - 1/15 1
1-230283506-G-C c.127-30458G>C - IntronicSNV - 1/15 1
1-230283764-G-A c.127-30200G>A - IntronicSNV - 1/15 4
1-230284257-C-A c.127-29707C>A - IntronicSNV - 1/15 2
1-230284375-C-T c.127-29589C>T - IntronicSNV - 1/15 1
1-230284703-T-C c.127-29261T>C - IntronicSNV - 1/15 1
1-230284924-A-G c.127-29040A>G - IntronicSNV - 1/15 1
1-230285056-G-A c.127-28908G>A - IntronicSNV - 1/15 4
1-230285372-G-A c.127-28592G>A - IntronicSNV - 1/15 1
1-230286647-T-A c.127-27317T>A - IntronicSNV - 1/15 1
1-230286647-T-G c.127-27317T>G - IntronicSNV - 1/15 1
1-230287128-T-G c.127-26836T>G - IntronicSNV - 1/15 4
1-230287517-A-C c.127-26447A>C - IntronicSNV - 1/15 1
1-230287525-AAG-AAGAAG c.127-26439_127-26437dup - IntronicInsertion - 1/15 1
1-230288206-A-C c.127-25758A>C - IntronicSNV - 1/15 1
1-230288206-A-G c.127-25758A>G - IntronicSNV - 1/15 1
1-230288206-A-T c.127-25758A>T - IntronicSNV - 1/15 1
1-230290069-C-T c.127-23895C>T - IntronicSNV - 1/15 1
1-230290118-A-G c.127-23846A>G - IntronicSNV - 1/15 1
1-230290254-G-A c.127-23710G>A - IntronicSNV - 1/15 1
1-230291441-C-A c.127-22523C>A - IntronicSNV - 1/15 1
1-230291868-T-C c.127-22096T>C - IntronicSNV - 1/15 2
1-230291953-C-G c.127-22011C>G - IntronicSNV - 1/15 1
1-230292499-T-C c.127-21465T>C - IntronicSNV - 1/15 1
1-230293037-A-G c.127-20927A>G - IntronicSNV - 1/15 1
1-230293530-C-A c.127-20434C>A - IntronicSNV - 1/15 4
1-230293530-C-G c.127-20434C>G - IntronicSNV - 1/15 4
1-230293530-C-T c.127-20434C>T - IntronicSNV - 1/15 4
1-230294185-A-T c.127-19779A>T - IntronicSNV - 1/15 1
1-230294715-C-A c.127-19249C>A - IntronicSNV - 1/15 14
1-230294715-C-T c.127-19249C>T - IntronicSNV - 1/15 14
1-230294916-C-T c.127-19048C>T - IntronicSNV - 1/15 66
1-230294989-C-A c.127-18975C>A - IntronicSNV - 1/15 1
1-230295245-C-T c.127-18719C>T - IntronicSNV - 1/15 1
1-230295307-C-A c.127-18657C>A - IntronicSNV - 1/15 5
1-230295307-C-G c.127-18657C>G - IntronicSNV - 1/15 5
1-230295691-G-A c.127-18273G>A - IntronicSNV - 1/15 144
1-230295789-A-G c.127-18175A>G - IntronicSNV - 1/15 9
1-230295789-A-T c.127-18175A>T - IntronicSNV - 1/15 9
1-230296153-C-T c.127-17811C>T - IntronicSNV - 1/15 4
1-230296470-C-A c.127-17494C>A - IntronicSNV - 1/15 1
1-230296492-G-A c.127-17472G>A - IntronicSNV - 1/15 1
1-230296492-G-C c.127-17472G>C - IntronicSNV - 1/15 1
1-230297136-C-T c.127-16828C>T - IntronicSNV - 1/15 3
1-230297659-C-T c.127-16305C>T - IntronicSNV - 1/15 7
1-230297778-A-T c.127-16186A>T - IntronicSNV - 1/15 2
1-230297939-A-G c.127-16025A>G - IntronicSNV - 1/15 1
1-230298285-T-A c.127-15679T>A - IntronicSNV - 1/15 1
1-230299222-T-C c.127-14742T>C - IntronicSNV - 1/15 1
1-230299949-T-C c.127-14015T>C - IntronicSNV - 1/15 10
1-230300270-T-TG c.127-13694_127-13693insG - IntronicInsertion - 1/15 1
1-230300270-T-TGAT c.127-13694_127-13693insGAT - IntronicInsertion - 1/15 1
1-230300270-T-TGCC c.127-13694_127-13693insGCC - IntronicInsertion - 1/15 1
1-230300270-T-TGCG c.127-13694_127-13693insGCG - IntronicInsertion - 1/15 1
1-230300270-T-TGCT c.127-13694_127-13693insGCT - IntronicInsertion - 1/15 1
1-230300270-T-TGCTC c.127-13694_127-13693insGCTC - IntronicInsertion - 1/15 1
1-230300270-T-TTGC c.127-13694_127-13693insTGC - IntronicInsertion - 1/15 1
1-230300481-C-G c.127-13483C>G - IntronicSNV - 1/15 1
1-230300481-C-T c.127-13483C>T - IntronicSNV - 1/15 1
1-230300586-C-G c.127-13378C>G - IntronicSNV - 1/15 5
1-230300586-C-T c.127-13378C>T - IntronicSNV - 1/15 5
1-230301451-A-G c.127-12513A>G - IntronicSNV - 1/15 1
1-230301574-A-G c.127-12390A>G - IntronicSNV - 1/15 1
1-230301776-G-A c.127-12188G>A - IntronicSNV - 1/15 5
1-230301776-G-C c.127-12188G>C - IntronicSNV - 1/15 5
1-230301811-T-A c.127-12153T>A - IntronicSNV - 1/15 1
1-230301811-T-G c.127-12153T>G - IntronicSNV - 1/15 1
1-230302521-T-G c.127-11443T>G - IntronicSNV - 1/15 1
1-230302661-A-G c.127-11303A>G - IntronicSNV - 1/15 1
1-230303150-C-T c.127-10814C>T - IntronicSNV - 1/15 1
1-230303512-C-G c.127-10452C>G - IntronicSNV - 1/15 1
1-230303512-C-T c.127-10452C>T - IntronicSNV - 1/15 1
1-230303611-C-A c.127-10353C>A - IntronicSNV - 1/15 1
1-230303848-T-G c.127-10116T>G - IntronicSNV - 1/15 2
1-230304051-C-T c.127-9913C>T - IntronicSNV - 1/15 3
1-230304352-G-A c.127-9612G>A - IntronicSNV - 1/15 1
1-230304914-A-G c.127-9050A>G - IntronicSNV - 1/15 6
1-230304930-C-G c.127-9034C>G - IntronicSNV - 1/15 1
1-230304988-A-C c.127-8976A>C - IntronicSNV - 1/15 21
1-230304988-A-G c.127-8976A>G - IntronicSNV - 1/15 21
1-230305312-G-A c.127-8652G>A - IntronicSNV - 1/15 19
1-230305477-T-A c.127-8487T>A - IntronicSNV - 1/15 1
1-230305477-T-C c.127-8487T>C - IntronicSNV - 1/15 1
1-230305477-T-G c.127-8487T>G - IntronicSNV - 1/15 1
1-230305966-A-G c.127-7998A>G - IntronicSNV - 1/15 1
1-230307182-T-A c.127-6782T>A - IntronicSNV - 1/15 6
1-230307182-T-C c.127-6782T>C - IntronicSNV - 1/15 6
1-230307182-T-G c.127-6782T>G - IntronicSNV - 1/15 6
1-230307222-T-G c.127-6742T>G - IntronicSNV - 1/15 5
1-230308384-G-A c.127-5580G>A - IntronicSNV - 1/15 1
1-230308906-T-A c.127-5058T>A - IntronicSNV - 1/15 4
1-230309481-C-A c.127-4483C>A - IntronicSNV - 1/15 2
1-230309481-C-G c.127-4483C>G - IntronicSNV - 1/15 2
1-230309619-A-G c.127-4345A>G - IntronicSNV - 1/15 4
1-230309771-T-C c.127-4193T>C - IntronicSNV - 1/15 1
1-230310069-A-G c.127-3895A>G - IntronicSNV - 1/15 1
1-230310568-C-T c.127-3396C>T - IntronicSNV - 1/15 1
1-230310728-C-T c.127-3236C>T - IntronicSNV - 1/15 1
1-230310736-C-A c.127-3228C>A - IntronicSNV - 1/15 1
1-230310740-C-T c.127-3224C>T - IntronicSNV - 1/15 1
1-230310972-T-C c.127-2992T>C - IntronicSNV - 1/15 3
1-230311176-A-G c.127-2788A>G - IntronicSNV - 1/15 1
1-230311677-G-A c.127-2287G>A - IntronicSNV - 1/15 1
1-230311849-G-A c.127-2115G>A - IntronicSNV - 1/15 1
1-230311918-G-A c.127-2046G>A - IntronicSNV - 1/15 1
1-230313911-T-C c.127-53T>C - IntronicSNV - 1/15 6
1-230314009-CA-TT c.172_173delinsTT p.His58Phe Missense 2/16 - 1
1-230314291-A-G c.220+234A>G - IntronicSNV - 2/15 1
1-230317687-C-T c.220+3630C>T - IntronicSNV - 2/15 1
1-230320156-C-T c.220+6099C>T - IntronicSNV - 2/15 1
1-230320338-G-A c.220+6281G>A - IntronicSNV - 2/15 1
1-230321492-A-G c.220+7435A>G - IntronicSNV - 2/15 1
1-230323310-G-A c.220+9253G>A - IntronicSNV - 2/15 1
1-230324067-T-G c.220+10010T>G - IntronicSNV - 2/15 4
1-230324119-G-A c.220+10062G>A - IntronicSNV - 2/15 1
1-230324364-T-C c.220+10307T>C - IntronicSNV - 2/15 2
1-230325027-C-G c.220+10970C>G - IntronicSNV - 2/15 1
1-230325027-C-T c.220+10970C>T - IntronicSNV - 2/15 1
1-230326412-G-A c.220+12355G>A - IntronicSNV - 2/15 5
1-230327568-C-G c.221-11315C>G - IntronicSNV - 2/15 1
1-230327568-C-T c.221-11315C>T - IntronicSNV - 2/15 1
1-230337887-G-A c.221-996G>A - IntronicSNV - 2/15 1
1-230338973-T-C c.311T>C p.Phe104Ser Missense 3/16 - 3
1-230339047-C-A c.374+11C>A - IntronicSNV - 3/15 1
1-230339047-C-T c.374+11C>T - IntronicSNV - 3/15 1
1-230341905-C-T c.374+2869C>T - IntronicSNV - 3/15 1
1-230343120-G-T c.374+4084G>T - IntronicSNV - 3/15 1
1-230346829-C-G c.374+7793C>G - IntronicSNV - 3/15 3
1-230346829-C-T c.374+7793C>T - IntronicSNV - 3/15 3
1-230347952-C-T c.374+8916C>T - IntronicSNV - 3/15 1
1-230351357-A-G c.374+12321A>G - IntronicSNV - 3/15 2
1-230355248-C-G c.374+16212C>G - IntronicSNV - 3/15 1
1-230355248-C-T c.374+16212C>T - IntronicSNV - 3/15 1
1-230355441-G-A c.375-16319G>A - IntronicSNV - 3/15 1
1-230356817-A-G c.375-14943A>G - IntronicSNV - 3/15 1
1-230360733-A-C c.375-11027A>C - IntronicSNV - 3/15 1
1-230360733-A-G c.375-11027A>G - IntronicSNV - 3/15 1
1-230371779-C-T c.394C>T p.Arg132Trp Missense 4/16 - 1
1-230371850-C-T c.465C>T p.Thr155Thr Synonymous 4/16 - 1
1-230371883-G-A c.473+25G>A - IntronicSNV - 4/15 2
1-230372025-A-G c.474-74A>G - IntronicSNV - 4/15 1
1-230372061-A-G c.474-38A>G - IntronicSNV - 4/15 2
1-230372427-G-A c.563G>A p.Gly188Glu Missense 6/16 - 1
1-230379078-G-A c.634G>A p.Ala212Thr Missense 7/16 - 1
1-230379088-CC-AG c.644_645delinsAG p.Ala215Glu Missense 7/16 - 1
1-230379092-A-T c.648A>T p.Gln216His Missense 7/16 - 4
1-230379120-C-G c.676C>G p.His226Asp Missense 7/16 - 2
1-230379208-G-A c.729+35G>A - IntronicSNV - 7/15 1
1-230381836-AT-GC c.757_758delinsGC p.Ile253Ala Missense 8/16 - 3
1-230381854-GA-TG c.775_776delinsTG p.Asp259Cys Missense 8/16 - 1
1-230384937-T-C c.825T>C p.Asp275Asp Synonymous 9/16 - 1
1-230384956-TG-GC c.844_845delinsGC p.Trp282Ala Missense 9/16 - 1
1-230384970-G-A c.858G>A p.Thr286Thr Synonymous 9/16 - 2
1-230384970-G-T c.858G>T p.Thr286Thr Synonymous 9/16 - 2
1-230384977-C-T c.865C>T p.Gln289* Nonsense 9/16 - 1
1-230385052-G-T c.905+35G>T - IntronicSNV - 9/15 1
1-230386174-C-T c.906-29C>T - IntronicSNV - 9/15 1
1-230386225-CT-GC c.928_929delinsGC p.Leu310Ala Missense 10/16 - 1
1-230386238-A-C c.941A>C p.Asp314Ala Missense 10/16 - 8
1-230386252-G-C c.955G>C p.Glu319Gln Missense 10/16 - 1
1-230386283-A-C c.986A>C p.Asp329Ala Missense 10/16 - 1
1-230386297-G-C c.1000G>C p.Glu334Gln Missense 10/16 - 2
1-230386300-AA-GC c.1003_1004delinsGC p.Asn335Ala Missense 10/16 - 1
1-230386300-A-C c.1003A>C p.Asn335His Missense 10/16 - 1
1-230386300-A-G c.1003A>G p.Asn335Asp Missense 10/16 - 1
1-230386301-A-G c.1004A>G p.Asn335Ser Missense 10/16 - 1
1-230386341-T-A c.1009+35T>A - IntronicSNV - 10/15 2
1-230388989-G-C c.1010-1975G>C - IntronicSNV - 10/15 1
1-230389838-G-C c.1010-1126G>C - IntronicSNV - 10/15 1
1-230389838-G-T c.1010-1126G>T - IntronicSNV - 10/15 1
1-230390002-A-G c.1010-962A>G - IntronicSNV - 10/15 1
1-230390002-A-T c.1010-962A>T - IntronicSNV - 10/15 1
1-230390956-C-T c.1010-8C>T - IntronicSNV - 10/15 2
1-230391035-TT-GC c.1081_1082delinsGC p.Phe361Ala Missense 11/16 - 2
1-230391036-T-C c.1082T>C p.Phe361Ser Missense 11/16 - 1
1-230391038-CG-AA c.1084_1085delinsAA p.Arg362Lys Missense 11/16 - 1
1-230392725-G-A c.1136+1635G>A - IntronicSNV - 11/15 1
1-230398102-A-G c.1137-217A>G - IntronicSNV - 11/15 2
1-230398102-A-T c.1137-217A>T - IntronicSNV - 11/15 2
1-230398241-C-T c.1137-78C>T - IntronicSNV - 11/15 2
1-230398445-G-A c.1229+34G>A - IntronicSNV - 12/15 4
1-230398672-CAG-TGT c.1234_1236delinsTGT p.Gln412Cys Missense 13/16 - 1
1-230398750-AG-GC c.1312_1313delinsGC p.Arg438Ala Missense 13/16 - 1
1-230398939-G-C c.1313+188G>C - IntronicSNV - 13/15 1
1-230399307-A-C c.1313+556A>C - IntronicSNV - 13/15 1
1-230399307-A-G c.1313+556A>G - IntronicSNV - 13/15 1
1-230400355-T-C c.1314-632T>C - IntronicSNV - 13/15 1
1-230401012-TT-GC c.1339_1340delinsGC p.Phe447Ala Missense 14/16 - 1
1-230401045-G-C c.1372G>C p.Asp458His Missense 14/16 - 3
1-230401634-G-T c.1440+521G>T - IntronicSNV - 14/15 1
1-230402624-A-G c.1440+1511A>G - IntronicSNV - 14/15 2
1-230402926-G-A c.1440+1813G>A - IntronicSNV - 14/15 1
1-230402926-G-T c.1440+1813G>T - IntronicSNV - 14/15 1
1-230406460-G-T c.1441-3731G>T - IntronicSNV - 14/15 1
1-230410150-C-T c.1441-41C>T - IntronicSNV - 14/15 1
1-230410162-C-A c.1441-29C>A - IntronicSNV - 14/15 1
1-230410162-C-T c.1441-29C>T - IntronicSNV - 14/15 1
1-230410242-AC-CA c.1492_1493delinsCA p.Thr498His Missense 15/16 - 1
1-230410342-G-A c.1560+32G>A - IntronicSNV - 15/15 1
1-230410374-G-A c.1560+64G>A - IntronicSNV - 15/15 1
1-230415025-A-G c.1561-24A>G - IntronicSNV - 15/15 1
1-230415109-G-C c.1621G>C p.Asp541His Missense 16/16 - 1
1-230415110-A-C c.1622A>C p.Asp541Ala Missense 16/16 - 1
1-230415148-G-A c.1660G>A p.Val554Met Missense 16/16 - 6
1-230415212-C-T c.*8C>T - 3-UTRSNV 16/16 - 1
1-230415244-T-C c.*40T>C - 3-UTRSNV 16/16 - 1
1-230415293-C-T c.*89C>T - 3-UTRSNV 16/16 - 3
1-230415417-A-G c.*213A>G - 3-UTRSNV 16/16 - 1
1-230415810-G-A c.*606G>A - 3-UTRSNV 16/16 - 1
1-230415846-G-A c.*642G>A - 3-UTRSNV 16/16 - 1
1-230415846-G-C c.*642G>C - 3-UTRSNV 16/16 - 1
1-230415924-G-T c.*720G>T - 3-UTRSNV 16/16 - 1
1-230416038-G-A c.*834G>A - 3-UTRSNV 16/16 - 6
1-230416084-C-T c.*880C>T - 3-UTRSNV 16/16 - 1
1-230416130-G-A c.*926G>A - 3-UTRSNV 16/16 - 1
1-230416130-G-T c.*926G>T - 3-UTRSNV 16/16 - 1
1-230416218-T-C c.*1014T>C - 3-UTRSNV 16/16 - 2
1-230416319-A-C c.*1115A>C - 3-UTRSNV 16/16 - 1
1-230416320-C-G c.*1116C>G - 3-UTRSNV 16/16 - 1
1-230416320-C-T c.*1116C>T - 3-UTRSNV 16/16 - 1
1-230416399-G-T c.*1195G>T - 3-UTRSNV 16/16 - 1
1-230416744-G-A c.*1540G>A - 3-UTRSNV 16/16 - 2
1-230416744-G-C c.*1540G>C - 3-UTRSNV 16/16 - 2
1-230416760-A-C c.*1556A>C - 3-UTRSNV 16/16 - 1
1-230416760-A-G c.*1556A>G - 3-UTRSNV 16/16 - 1
1-230416832-T-A c.*1628T>A - 3-UTRSNV 16/16 - 2
1-230416950-C-T c.*1746C>T - 3-UTRSNV 16/16 - 1
1-230416953-A-G c.*1749A>G - 3-UTRSNV 16/16 - 1
1-230417056-G-C c.*1852G>C - 3-UTRSNV 16/16 - 1
1-230417294-A-G c.*2090A>G - 3-UTRSNV 16/16 - 2
1-230417329-A-G c.*2125A>G - 3-UTRSNV 16/16 - 1
1-230417371-C-T c.*2167C>T - 3-UTRSNV 16/16 - 3
1-230417394-T-C c.*2190T>C - 3-UTRSNV 16/16 - 2
1-230417408-T-C c.*2204T>C - 3-UTRSNV 16/16 - 2
1-230417557-T-A c.*2353T>A - 3-UTRSNV 16/16 - 1
1-230417557-T-C c.*2353T>C - 3-UTRSNV 16/16 - 1
1-230417560-A-G c.*2356A>G - 3-UTRSNV 16/16 - 1
1-230417664-C-G c.*2460C>G - 3-UTRSNV 16/16 - 1
1-230417664-C-T c.*2460C>T - 3-UTRSNV 16/16 - 1