LIPC lipase C, hepatic type

Canonical transcript: NM_000236

307 unique variant annotations were identified in 349 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
15-58724371-C-T c.88+52C>T - IntronicSNV - 1/8 7
15-58724383-A-G c.88+64A>G - IntronicSNV - 1/8 3
15-58724524-A-G c.88+205A>G - IntronicSNV - 1/8 14
15-58724609-G-A c.88+290G>A - IntronicSNV - 1/8 1
15-58724706-G-A c.88+387G>A - IntronicSNV - 1/8 5
15-58724706-G-T c.88+387G>T - IntronicSNV - 1/8 5
15-58724792-T-A c.88+473T>A - IntronicSNV - 1/8 22
15-58724842-G-A c.88+523G>A - IntronicSNV - 1/8 11
15-58725239-T-C c.88+920T>C - IntronicSNV - 1/8 1
15-58725839-A-G c.88+1520A>G - IntronicSNV - 1/8 10
15-58726463-G-A c.88+2144G>A - IntronicSNV - 1/8 3
15-58726463-G-C c.88+2144G>C - IntronicSNV - 1/8 3
15-58726744-G-C c.88+2425G>C - IntronicSNV - 1/8 24
15-58727279-T-C c.88+2960T>C - IntronicSNV - 1/8 5
15-58727325-A-G c.88+3006A>G - IntronicSNV - 1/8 43
15-58727501-C-T c.88+3182C>T - IntronicSNV - 1/8 1
15-58727687-T-C c.88+3368T>C - IntronicSNV - 1/8 3
15-58727687-T-G c.88+3368T>G - IntronicSNV - 1/8 3
15-58729144-C-T c.88+4825C>T - IntronicSNV - 1/8 7
15-58730498-C-G c.88+6179C>G - IntronicSNV - 1/8 21
15-58730498-C-T c.88+6179C>T - IntronicSNV - 1/8 21
15-58730571-T-C c.88+6252T>C - IntronicSNV - 1/8 2
15-58730639-C-G c.88+6320C>G - IntronicSNV - 1/8 3
15-58730889-A-G c.88+6570A>G - IntronicSNV - 1/8 7
15-58731153-G-A c.88+6834G>A - IntronicSNV - 1/8 35
15-58731153-G-C c.88+6834G>C - IntronicSNV - 1/8 35
15-58731153-G-T c.88+6834G>T - IntronicSNV - 1/8 35
15-58731455-T-C c.88+7136T>C - IntronicSNV - 1/8 4
15-58731567-A-G c.88+7248A>G - IntronicSNV - 1/8 15
15-58731707-G-A c.88+7388G>A - IntronicSNV - 1/8 1
15-58731939-C-G c.88+7620C>G - IntronicSNV - 1/8 1
15-58732221-C-T c.88+7902C>T - IntronicSNV - 1/8 2
15-58732468-G-A c.88+8149G>A - IntronicSNV - 1/8 3
15-58733512-G-A c.88+9193G>A - IntronicSNV - 1/8 1
15-58733730-C-T c.88+9411C>T - IntronicSNV - 1/8 1
15-58733752-C-G c.88+9433C>G - IntronicSNV - 1/8 2
15-58734397-G-C c.88+10078G>C - IntronicSNV - 1/8 1
15-58734645-C-T c.88+10326C>T - IntronicSNV - 1/8 2
15-58735005-A-G c.88+10686A>G - IntronicSNV - 1/8 11
15-58735222-A-C c.88+10903A>C - IntronicSNV - 1/8 3
15-58735449-T-C c.88+11130T>C - IntronicSNV - 1/8 3
15-58736099-G-A c.88+11780G>A - IntronicSNV - 1/8 1
15-58736623-G-A c.88+12304G>A - IntronicSNV - 1/8 2
15-58736623-G-C c.88+12304G>C - IntronicSNV - 1/8 2
15-58736733-T-C c.88+12414T>C - IntronicSNV - 1/8 1
15-58736778-C-T c.88+12459C>T - IntronicSNV - 1/8 6
15-58737135-G-C c.88+12816G>C - IntronicSNV - 1/8 2
15-58737341-T-A c.88+13022T>A - IntronicSNV - 1/8 15
15-58737341-T-G c.88+13022T>G - IntronicSNV - 1/8 15
15-58737382-G-A c.88+13063G>A - IntronicSNV - 1/8 3
15-58737383-C-A c.88+13064C>A - IntronicSNV - 1/8 1
15-58737661-C-A c.88+13342C>A - IntronicSNV - 1/8 7
15-58738070-C-T c.88+13751C>T - IntronicSNV - 1/8 2
15-58738423-C-T c.88+14104C>T - IntronicSNV - 1/8 3
15-58738760-G-A c.88+14441G>A - IntronicSNV - 1/8 9
15-58739115-G-A c.88+14796G>A - IntronicSNV - 1/8 1
15-58739646-T-C c.88+15327T>C - IntronicSNV - 1/8 1
15-58739761-G-C c.88+15442G>C - IntronicSNV - 1/8 5
15-58740094-C-G c.88+15775C>G - IntronicSNV - 1/8 11
15-58740094-C-T c.88+15775C>T - IntronicSNV - 1/8 11
15-58740152-T-C c.88+15833T>C - IntronicSNV - 1/8 1
15-58740588-C-A c.88+16269C>A - IntronicSNV - 1/8 4
15-58740588-C-T c.88+16269C>T - IntronicSNV - 1/8 4
15-58740753-G-T c.88+16434G>T - IntronicSNV - 1/8 1
15-58740874-A-G c.88+16555A>G - IntronicSNV - 1/8 1
15-58741134-A-C c.88+16815A>C - IntronicSNV - 1/8 9
15-58741134-A-T c.88+16815A>T - IntronicSNV - 1/8 9
15-58741177-C-G c.88+16858C>G - IntronicSNV - 1/8 9
15-58741177-C-T c.88+16858C>T - IntronicSNV - 1/8 9
15-58741246-T-G c.88+16927T>G - IntronicSNV - 1/8 1
15-58741384-C-G c.88+17065C>G - IntronicSNV - 1/8 10
15-58741384-C-T c.88+17065C>T - IntronicSNV - 1/8 10
15-58741843-C-G c.88+17524C>G - IntronicSNV - 1/8 1
15-58741848-C-T c.88+17529C>T - IntronicSNV - 1/8 1
15-58741884-T-A c.88+17565T>A - IntronicSNV - 1/8 8
15-58741884-T-C c.88+17565T>C - IntronicSNV - 1/8 8
15-58741891-A-G c.88+17572A>G - IntronicSNV - 1/8 6
15-58742196-T-C c.88+17877T>C - IntronicSNV - 1/8 2
15-58742418-G-A c.88+18099G>A - IntronicSNV - 1/8 24
15-58742731-T-G c.88+18412T>G - IntronicSNV - 1/8 8
15-58743022-G-T c.88+18703G>T - IntronicSNV - 1/8 1
15-58743709-C-T c.88+19390C>T - IntronicSNV - 1/8 7
15-58743787-C-A c.88+19468C>A - IntronicSNV - 1/8 1
15-58743787-C-T c.88+19468C>T - IntronicSNV - 1/8 1
15-58744348-T-G c.88+20029T>G - IntronicSNV - 1/8 2
15-58746667-T-C c.88+22348T>C - IntronicSNV - 1/8 1
15-58746830-T-C c.88+22511T>C - IntronicSNV - 1/8 9
15-58747784-T-A c.88+23465T>A - IntronicSNV - 1/8 1
15-58747784-T-C c.88+23465T>C - IntronicSNV - 1/8 1
15-58748517-A-C c.88+24198A>C - IntronicSNV - 1/8 2
15-58748906-G-T c.88+24587G>T - IntronicSNV - 1/8 3
15-58749155-T-A c.88+24836T>A - IntronicSNV - 1/8 2
15-58749155-T-C c.88+24836T>C - IntronicSNV - 1/8 2
15-58749647-G-A c.88+25328G>A - IntronicSNV - 1/8 1
15-58749675-C-T c.88+25356C>T - IntronicSNV - 1/8 2
15-58750118-T-C c.88+25799T>C - IntronicSNV - 1/8 1
15-58750132-G-A c.88+25813G>A - IntronicSNV - 1/8 2
15-58751018-G-A c.88+26699G>A - IntronicSNV - 1/8 1
15-58751201-T-A c.88+26882T>A - IntronicSNV - 1/8 5
15-58751587-G-A c.88+27268G>A - IntronicSNV - 1/8 1
15-58751877-T-A c.88+27558T>A - IntronicSNV - 1/8 1
15-58751877-T-G c.88+27558T>G - IntronicSNV - 1/8 1
15-58752607-C-G c.88+28288C>G - IntronicSNV - 1/8 1
15-58752607-C-T c.88+28288C>T - IntronicSNV - 1/8 1
15-58752734-C-A c.88+28415C>A - IntronicSNV - 1/8 2
15-58752890-C-A c.88+28571C>A - IntronicSNV - 1/8 5
15-58754497-G-T c.88+30178G>T - IntronicSNV - 1/8 3
15-58754502-G-C c.88+30183G>C - IntronicSNV - 1/8 1
15-58754632-C-G c.88+30313C>G - IntronicSNV - 1/8 1
15-58754632-C-T c.88+30313C>T - IntronicSNV - 1/8 1
15-58754876-G-A c.88+30557G>A - IntronicSNV - 1/8 2
15-58755364-T-A c.88+31045T>A - IntronicSNV - 1/8 1
15-58756173-C-T c.88+31854C>T - IntronicSNV - 1/8 1
15-58756315-A-T c.88+31996A>T - IntronicSNV - 1/8 1
15-58756554-T-A c.88+32235T>A - IntronicSNV - 1/8 1
15-58756554-T-C c.88+32235T>C - IntronicSNV - 1/8 1
15-58756571-A-G c.88+32252A>G - IntronicSNV - 1/8 1
15-58757367-C-G c.88+33048C>G - IntronicSNV - 1/8 1
15-58757426-T-C c.88+33107T>C - IntronicSNV - 1/8 1
15-58757588-A-G c.88+33269A>G - IntronicSNV - 1/8 1
15-58757770-A-G c.88+33451A>G - IntronicSNV - 1/8 1
15-58757770-A-T c.88+33451A>T - IntronicSNV - 1/8 1
15-58757927-C-G c.88+33608C>G - IntronicSNV - 1/8 4
15-58758548-G-A c.88+34229G>A - IntronicSNV - 1/8 3
15-58759266-G-C c.88+34947G>C - IntronicSNV - 1/8 1
15-58759459-G-A c.88+35140G>A - IntronicSNV - 1/8 3
15-58759459-G-C c.88+35140G>C - IntronicSNV - 1/8 3
15-58759537-T-C c.88+35218T>C - IntronicSNV - 1/8 1
15-58759940-A-T c.88+35621A>T - IntronicSNV - 1/8 2
15-58759963-G-A c.88+35644G>A - IntronicSNV - 1/8 1
15-58759963-G-C c.88+35644G>C - IntronicSNV - 1/8 1
15-58759963-G-T c.88+35644G>T - IntronicSNV - 1/8 1
15-58760509-C-T c.88+36190C>T - IntronicSNV - 1/8 1
15-58760588-C-A c.88+36269C>A - IntronicSNV - 1/8 1
15-58760644-C-G c.88+36325C>G - IntronicSNV - 1/8 1
15-58760975-C-A c.88+36656C>A - IntronicSNV - 1/8 3
15-58761538-C-T c.88+37219C>T - IntronicSNV - 1/8 1
15-58763678-T-C c.88+39359T>C - IntronicSNV - 1/8 1
15-58765183-T-A c.88+40864T>A - IntronicSNV - 1/8 4
15-58765183-T-C c.88+40864T>C - IntronicSNV - 1/8 4
15-58765183-T-G c.88+40864T>G - IntronicSNV - 1/8 4
15-58765897-C-T c.88+41578C>T - IntronicSNV - 1/8 1
15-58767425-C-T c.88+43106C>T - IntronicSNV - 1/8 1
15-58767754-C-A c.88+43435C>A - IntronicSNV - 1/8 8
15-58767754-C-G c.88+43435C>G - IntronicSNV - 1/8 8
15-58768822-G-A c.88+44503G>A - IntronicSNV - 1/8 1
15-58769461-G-C c.88+45142G>C - IntronicSNV - 1/8 1
15-58769583-C-T c.88+45264C>T - IntronicSNV - 1/8 4
15-58769762-A-G c.88+45443A>G - IntronicSNV - 1/8 1
15-58771084-A-T c.88+46765A>T - IntronicSNV - 1/8 1
15-58774109-T-A c.88+49790T>A - IntronicSNV - 1/8 2
15-58774109-T-C c.88+49790T>C - IntronicSNV - 1/8 3
15-58777278-G-A c.88+52959G>A - IntronicSNV - 1/8 1
15-58777278-G-T c.88+52959G>T - IntronicSNV - 1/8 1
15-58778412-G-C c.89-52120G>C - IntronicSNV - 1/8 4
15-58779039-T-C c.89-51493T>C - IntronicSNV - 1/8 6
15-58779641-C-A c.89-50891C>A - IntronicSNV - 1/8 6
15-58780013-G-A c.89-50519G>A - IntronicSNV - 1/8 2
15-58782595-A-G c.89-47937A>G - IntronicSNV - 1/8 2
15-58783051-G-T c.89-47481G>T - IntronicSNV - 1/8 1
15-58789035-C-A c.89-41497C>A - IntronicSNV - 1/8 1
15-58789035-C-T c.89-41497C>T - IntronicSNV - 1/8 1
15-58791354-T-C c.89-39178T>C - IntronicSNV - 1/8 8
15-58792456-C-G c.89-38076C>G - IntronicSNV - 1/8 1
15-58792456-C-T c.89-38076C>T - IntronicSNV - 1/8 1
15-58793567-G-A c.89-36965G>A - IntronicSNV - 1/8 2
15-58793567-G-C c.89-36965G>C - IntronicSNV - 1/8 2
15-58793567-G-T c.89-36965G>T - IntronicSNV - 1/8 2
15-58795513-A-G c.89-35019A>G - IntronicSNV - 1/8 3
15-58796245-C-G c.89-34287C>G - IntronicSNV - 1/8 2
15-58797300-G-A c.89-33232G>A - IntronicSNV - 1/8 3
15-58797499-C-T c.89-33033C>T - IntronicSNV - 1/8 4
15-58798307-G-A c.89-32225G>A - IntronicSNV - 1/8 1
15-58798554-A-G c.89-31978A>G - IntronicSNV - 1/8 2
15-58798554-A-T c.89-31978A>T - IntronicSNV - 1/8 2
15-58798706-A-G c.89-31826A>G - IntronicSNV - 1/8 1
15-58798813-T-A c.89-31719T>A - IntronicSNV - 1/8 1
15-58798813-T-C c.89-31719T>C - IntronicSNV - 1/8 1
15-58800141-G-A c.89-30391G>A - IntronicSNV - 1/8 1
15-58800766-T-C c.89-29766T>C - IntronicSNV - 1/8 4
15-58801234-G-A c.89-29298G>A - IntronicSNV - 1/8 2
15-58801541-T-A c.89-28991T>A - IntronicSNV - 1/8 1
15-58801541-T-C c.89-28991T>C - IntronicSNV - 1/8 1
15-58801943-A-G c.89-28589A>G - IntronicSNV - 1/8 6
15-58801943-A-T c.89-28589A>T - IntronicSNV - 1/8 6
15-58802026-A-C c.89-28506A>C - IntronicSNV - 1/8 2
15-58802026-A-T c.89-28506A>T - IntronicSNV - 1/8 2
15-58802085-G-C c.89-28447G>C - IntronicSNV - 1/8 1
15-58804663-T-C c.89-25869T>C - IntronicSNV - 1/8 2
15-58804778-C-T c.89-25754C>T - IntronicSNV - 1/8 1
15-58808079-T-G c.89-22453T>G - IntronicSNV - 1/8 4
15-58808174-G-A c.89-22358G>A - IntronicSNV - 1/8 3
15-58808174-G-C c.89-22358G>C - IntronicSNV - 1/8 3
15-58808578-C-T c.89-21954C>T - IntronicSNV - 1/8 4
15-58808883-A-G c.89-21649A>G - IntronicSNV - 1/8 1
15-58809493-G-C c.89-21039G>C - IntronicSNV - 1/8 3
15-58809493-G-T c.89-21039G>T - IntronicSNV - 1/8 3
15-58811869-A-G c.89-18663A>G - IntronicSNV - 1/8 5
15-58812199-C-T c.89-18333C>T - IntronicSNV - 1/8 5
15-58813566-A-C c.89-16966A>C - IntronicSNV - 1/8 2
15-58813566-A-T c.89-16966A>T - IntronicSNV - 1/8 2
15-58815320-G-A c.89-15212G>A - IntronicSNV - 1/8 1
15-58818783-G-A c.89-11749G>A - IntronicSNV - 1/8 6
15-58820978-A-G c.89-9554A>G - IntronicSNV - 1/8 1
15-58820978-A-T c.89-9554A>T - IntronicSNV - 1/8 1
15-58822697-G-A c.89-7835G>A - IntronicSNV - 1/8 4
15-58822697-G-T c.89-7835G>T - IntronicSNV - 1/8 4
15-58822785-T-A c.89-7747T>A - IntronicSNV - 1/8 3
15-58822785-T-C c.89-7747T>C - IntronicSNV - 1/8 3
15-58823416-T-C c.89-7116T>C - IntronicSNV - 1/8 1
15-58824641-A-G c.89-5891A>G - IntronicSNV - 1/8 3
15-58825713-T-A c.89-4819T>A - IntronicSNV - 1/8 4
15-58825713-T-C c.89-4819T>C - IntronicSNV - 1/8 4
15-58826632-T-A c.89-3900T>A - IntronicSNV - 1/8 2
15-58826632-T-C c.89-3900T>C - IntronicSNV - 1/8 2
15-58827623-G-A c.89-2909G>A - IntronicSNV - 1/8 1
15-58828584-A-T c.89-1948A>T - IntronicSNV - 1/8 2
15-58829215-A-T c.89-1317A>T - IntronicSNV - 1/8 8
15-58829451-G-C c.89-1081G>C - IntronicSNV - 1/8 1
15-58829535-A-G c.89-997A>G - IntronicSNV - 1/8 1
15-58829894-A-G c.89-638A>G - IntronicSNV - 1/8 3
15-58830561-G-A c.118G>A p.Glu40Lys Missense 2/9 - 1
15-58830639-A-G c.196A>G p.Ile66Val Missense 2/9 - 1
15-58830655-CG-TC c.212_213delinsTC p.Thr71Ile Missense 2/9 - 2
15-58830966-C-T c.273+250C>T - IntronicSNV - 2/8 1
15-58831363-A-G c.273+647A>G - IntronicSNV - 2/8 2
15-58831363-A-T c.273+647A>T - IntronicSNV - 2/8 2
15-58833703-G-A c.274-281G>A - IntronicSNV - 2/8 1
15-58833703-G-C c.274-281G>C - IntronicSNV - 2/8 1
15-58833938-G-A c.274-46G>A - IntronicSNV - 2/8 2
15-58833993-G-A c.283G>A p.Val95Met Missense 3/9 - 20
15-58833993-G-T c.283G>T p.Val95Leu Missense 3/9 - 15
15-58834042-C-T c.332C>T p.Pro111Leu Missense 3/9 - 1
15-58834122-C-T c.412C>T p.Arg138Cys Missense 3/9 - 1
15-58834143-G-A c.433G>A p.Ala145Thr Missense 3/9 - 1
15-58834153-T-C c.443T>C p.Leu148Pro Missense 3/9 - 1
15-58834155-CGG-AGC c.445_447delinsAGC p.Arg149Ser Missense 3/9 - 2
15-58834375-T-C c.456+209T>C - IntronicSNV - 3/8 1
15-58834391-A-G c.456+225A>G - IntronicSNV - 3/8 1
15-58834741-G-A c.465G>A p.Val155Val Synonymous 4/9 - 14
15-58834741-G-C c.465G>C p.Val155Val Synonymous 4/9 - 1
15-58834741-G-T c.465G>T p.Val155Val Synonymous 4/9 - 14
15-58834827-C-T c.551C>T p.Thr184Met Missense 4/9 - 1
15-58834839-G-A c.563G>A p.Gly188Glu Missense 4/9 - 1
15-58835317-C-A c.574+467C>A - IntronicSNV - 4/8 6
15-58835317-C-T c.574+467C>T - IntronicSNV - 4/8 6
15-58835639-T-C c.574+789T>C - IntronicSNV - 4/8 1
15-58836308-C-G c.574+1458C>G - IntronicSNV - 4/8 4
15-58836308-C-T c.574+1458C>T - IntronicSNV - 4/8 4
15-58837394-C-T c.575-547C>T - IntronicSNV - 4/8 1
15-58837722-G-A c.575-219G>A - IntronicSNV - 4/8 2
15-58837933-C-A c.575-8C>A - IntronicSNV - 4/8 1
15-58837949-G-A c.583G>A p.Ala195Thr Missense 5/9 - 1
15-58837957-A-G c.591A>G p.Gly197Gly Synonymous 5/9 - 4
15-58837957-A-T c.591A>T p.Gly197Gly Synonymous 5/9 - 4
15-58837989-G-A c.623G>A p.Arg208His Missense 5/9 - 4
15-58838010-A-C c.644A>C p.Asn215Thr Missense 5/9 - 27
15-58838010-A-G c.644A>G p.Asn215Ser Missense 5/9 - 31
15-58838038-C-A c.672C>A p.Thr224Thr Synonymous 5/9 - 11
15-58838038-C-G c.672C>G p.Thr224Thr Synonymous 5/9 - 11
15-58838038-C-T c.672C>T p.Thr224Thr Synonymous 5/9 - 3
15-58838081-G-A c.715G>A p.Gly239Arg Missense 5/9 - 1
15-58838104-CG-CGCG c.738_739dup p.Gly247Alafs*12 Frameshift 5/9 - 1
15-58838174-G-A c.808G>A p.Ala270Thr Missense 5/9 - 1
15-58838575-G-A c.808+401G>A - IntronicSNV - 5/8 1
15-58839272-T-G c.808+1098T>G - IntronicSNV - 5/8 4
15-58839298-C-T c.808+1124C>T - IntronicSNV - 5/8 2
15-58839337-G-A c.808+1163G>A - IntronicSNV - 5/8 3
15-58840039-A-G c.809-490A>G - IntronicSNV - 5/8 4
15-58840099-G-A c.809-430G>A - IntronicSNV - 5/8 2
15-58840562-G-A c.842G>A p.Arg281Gln Missense 6/9 - 2
15-58840586-C-T c.866C>T p.Ser289Phe Missense 6/9 - 2
15-58840706-G-A c.986G>A p.Arg329His Missense 6/9 - 1
15-58840751-G-A c.1031G>A p.Arg344Gln Missense 6/9 - 1
15-58841736-C-G c.1051+965C>G - IntronicSNV - 6/8 4
15-58842883-A-C c.1051+2112A>C - IntronicSNV - 6/8 2
15-58842883-A-G c.1051+2112A>G - IntronicSNV - 6/8 2
15-58844214-C-T c.1051+3443C>T - IntronicSNV - 6/8 3
15-58847263-T-C c.1052-5800T>C - IntronicSNV - 6/8 6
15-58847372-C-G c.1052-5691C>G - IntronicSNV - 6/8 2
15-58847807-T-C c.1052-5256T>C - IntronicSNV - 6/8 1
15-58847928-A-G c.1052-5135A>G - IntronicSNV - 6/8 1
15-58853079-C-A c.1068C>A p.Phe356Leu Missense 7/9 - 14
15-58853079-C-T c.1068C>T p.Phe356Phe Synonymous 7/9 - 13
15-58853096-A-G c.1085A>G p.Asn362Ser Missense 7/9 - 1
15-58853109-A-C c.1098A>C p.Thr366Thr Synonymous 7/9 - 2
15-58853109-A-G c.1098A>G p.Thr366Thr Synonymous 7/9 - 2
15-58853111-C-T c.1100C>T p.Pro367Leu Missense 7/9 - 1
15-58853143-G-A c.1132G>A p.Gly378Arg Missense 7/9 - 1
15-58853143-GGA-TGT c.1132_1134delinsTGT p.Gly378Cys Missense 7/9 - 1
15-58855748-C-T c.1214C>T p.Thr405Met Missense 8/9 - 15
15-58855756-G-A c.1222G>A p.Val408Met Missense 8/9 - 1
15-58855760-A-C c.1226A>C p.Asp409Ala Missense 8/9 - 1
15-58855778-T-C c.1244T>C p.Met415Thr Missense 8/9 - 1
15-58855805-GCAGTG-G c.1271_1275del p.Ala424Valfs*48 Frameshift 8/9 - 1
15-58855864-C-T c.1330C>T p.Arg444Cys Missense 8/9 - 1
15-58856033-T-C c.1388+111T>C - IntronicSNV - 8/8 5
15-58857378-A-G c.1388+1456A>G - IntronicSNV - 8/8 3
15-58857945-A-G c.1388+2023A>G - IntronicSNV - 8/8 2
15-58857945-A-T c.1388+2023A>T - IntronicSNV - 8/8 2
15-58859395-G-A c.1389-1520G>A - IntronicSNV - 8/8 1
15-58860927-T-A c.1401T>A p.Cys467* Nonsense 9/9 - 1
15-58860931-G-A c.1405G>A p.Glu469Lys Missense 9/9 - 1
15-58860937-ACA-TGT c.1411_1413inv p.Thr471Cys Missense 9/9 - 1
15-58860963-C-A c.1437C>A p.Thr479Thr Synonymous 9/9 - 11
15-58860963-C-G c.1437C>G p.Thr479Thr Synonymous 9/9 - 11
15-58860963-C-T c.1437C>T p.Thr479Thr Synonymous 9/9 - 2