SLCO1B1 solute carrier organic anion transporter family member 1B1

Canonical transcript: NM_006446

458 unique variant annotations were identified in 613 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-21291358-A-G c.-61-3090A>G - IntronicSNV - 1/14 1
12-21291561-T-G c.-61-2887T>G - IntronicSNV - 1/14 3
12-21292056-G-A c.-61-2392G>A - IntronicSNV - 1/14 2
12-21292206-A-C c.-61-2242A>C - IntronicSNV - 1/14 1
12-21292206-A-T c.-61-2242A>T - IntronicSNV - 1/14 1
12-21292280-C-T c.-61-2168C>T - IntronicSNV - 1/14 2
12-21294291-G-C c.-61-157G>C - IntronicSNV - 1/14 1
12-21294293-T-G c.-61-155T>G - IntronicSNV - 1/14 5
12-21294329-T-C c.-61-119T>C - IntronicSNV - 1/14 2
12-21294329-T-G c.-61-119T>G - IntronicSNV - 1/14 2
12-21294536-A-G c.28A>G p.Thr10Ala Missense 2/15 - 1
12-21294547-A-C c.39A>C p.Ala13Ala Synonymous 2/15 - 1
12-21294547-A-G c.39A>G p.Ala13Ala Synonymous 2/15 - 1
12-21294547-A-T c.39A>T p.Ala13Ala Synonymous 2/15 - 1
12-21294551-C-A c.43C>A p.Pro15Thr Missense 2/15 - 1
12-21294558-A-G c.50A>G p.Glu17Gly Missense 2/15 - 1
12-21294569-A-G c.61A>G p.Thr21Ala Missense 2/15 - 1
12-21294575-T-G c.67T>G p.Tyr23Asp Missense 2/15 - 1
12-21294578-TG-AC c.70_71delinsAC p.Cys24Thr Missense 2/15 - 2
12-21294578-TG-CA c.70_71inv p.Cys24His Missense 2/15 - 6
12-21294582-A-T c.74A>T p.Asn25Ile Missense 2/15 - 1
12-21294655-A-G c.84+63A>G - IntronicSNV - 2/14 1
12-21294760-T-C c.84+168T>C - IntronicSNV - 2/14 1
12-21294784-C-T c.84+192C>T - IntronicSNV - 2/14 1
12-21294785-G-A c.84+193G>A - IntronicSNV - 2/14 3
12-21294795-A-G c.84+203A>G - IntronicSNV - 2/14 4
12-21294795-A-T c.84+203A>T - IntronicSNV - 2/14 4
12-21294813-A-G c.84+221A>G - IntronicSNV - 2/14 1
12-21294840-A-G c.84+248A>G - IntronicSNV - 2/14 3
12-21295612-G-A c.84+1020G>A - IntronicSNV - 2/14 1
12-21296475-T-A c.84+1883T>A - IntronicSNV - 2/14 4
12-21296707-C-G c.84+2115C>G - IntronicSNV - 2/14 1
12-21296806-C-G c.84+2214C>G - IntronicSNV - 2/14 1
12-21300002-T-G c.84+5410T>G - IntronicSNV - 2/14 3
12-21304369-A-G c.84+9777A>G - IntronicSNV - 2/14 1
12-21305298-C-A c.84+10706C>A - IntronicSNV - 2/14 4
12-21310009-A-T c.84+15417A>T - IntronicSNV - 2/14 1
12-21311718-A-C c.85-13866A>C - IntronicSNV - 2/14 4
12-21311718-A-G c.85-13866A>G - IntronicSNV - 2/14 4
12-21312463-G-A c.85-13121G>A - IntronicSNV - 2/14 1
12-21312924-A-G c.85-12660A>G - IntronicSNV - 2/14 2
12-21314196-A-G c.85-11388A>G - IntronicSNV - 2/14 1
12-21315415-A-C c.85-10169A>C - IntronicSNV - 2/14 4
12-21315522-A-G c.85-10062A>G - IntronicSNV - 2/14 4
12-21315952-T-C c.85-9632T>C - IntronicSNV - 2/14 1
12-21316213-A-G c.85-9371A>G - IntronicSNV - 2/14 1
12-21316920-A-G c.85-8664A>G - IntronicSNV - 2/14 1
12-21317668-T-C c.85-7916T>C - IntronicSNV - 2/14 2
12-21317791-C-T c.85-7793C>T - IntronicSNV - 2/14 38
12-21317801-G-A c.85-7783G>A - IntronicSNV - 2/14 1
12-21317801-G-C c.85-7783G>C - IntronicSNV - 2/14 1
12-21317810-A-G c.85-7774A>G - IntronicSNV - 2/14 12
12-21317922-G-A c.85-7662G>A - IntronicSNV - 2/14 4
12-21317922-G-C c.85-7662G>C - IntronicSNV - 2/14 4
12-21318265-T-A c.85-7319T>A - IntronicSNV - 2/14 3
12-21318265-T-C c.85-7319T>C - IntronicSNV - 2/14 3
12-21320686-A-G c.85-4898A>G - IntronicSNV - 2/14 1
12-21321270-C-T c.85-4314C>T - IntronicSNV - 2/14 1
12-21321370-T-C c.85-4214T>C - IntronicSNV - 2/14 9
12-21321429-T-C c.85-4155T>C - IntronicSNV - 2/14 2
12-21322056-G-A c.85-3528G>A - IntronicSNV - 2/14 5
12-21322972-G-C c.85-2612G>C - IntronicSNV - 2/14 1
12-21323272-A-G c.85-2312A>G - IntronicSNV - 2/14 1
12-21323556-C-T c.85-2028C>T - IntronicSNV - 2/14 1
12-21323611-C-T c.85-1973C>T - IntronicSNV - 2/14 1
12-21324748-A-G c.85-836A>G - IntronicSNV - 2/14 1
12-21324748-A-T c.85-836A>T - IntronicSNV - 2/14 1
12-21325347-G-A c.85-237G>A - IntronicSNV - 2/14 1
12-21325590-T-A c.91T>A p.Leu31Met Missense 3/15 - 5
12-21325605-C-T c.106C>T p.Leu36Phe Missense 3/15 - 1
12-21325612-T-A c.113T>A p.Phe38Tyr Missense 3/15 - 1
12-21325620-AA-GC c.121_122delinsGC p.Lys41Ala Missense 3/15 - 1
12-21325621-A-G c.122A>G p.Lys41Arg Missense 3/15 - 1
12-21325623-A-G c.124A>G p.Thr42Ala Missense 3/15 - 1
12-21325633-C-G c.134C>G p.Ala45Gly Missense 3/15 - 2
12-21325638-A-G c.139A>G p.Ile47Val Missense 3/15 - 1
12-21325644-AA-GC c.145_146delinsGC p.Lys49Ala Missense 3/15 - 1
12-21325648-G-T c.149G>T p.Ser50Ile Missense 3/15 - 1
12-21325661-T-A c.162T>A p.His54Gln Missense 3/15 - 1
12-21325661-T-G c.162T>G p.His54Gln Missense 3/15 - 1
12-21325668-C-T c.169C>T p.Arg57Trp Missense 3/15 - 2
12-21325669-G-A c.170G>A p.Arg57Gln Missense 3/15 - 2
12-21325683-T-A c.184T>A p.Ser62Thr Missense 3/15 - 1
12-21325683-T-C c.184T>C p.Ser62Pro Missense 3/15 - 1
12-21325707-G-A c.208G>A p.Asp70Asn Missense 3/15 - 1
12-21325708-A-C c.209A>C p.Asp70Ala Missense 3/15 - 1
12-21325708-A-G c.209A>G p.Asp70Gly Missense 3/15 - 2
12-21325709-C-A c.210C>A p.Asp70Glu Missense 3/15 - 1
12-21325709-C-G c.210C>G p.Asp70Glu Missense 3/15 - 1
12-21325710-G-A c.211G>A p.Gly71Arg Missense 3/15 - 2
12-21325714-G-A c.215G>A p.Ser72Asn Missense 3/15 - 1
12-21325716-T-C c.217T>C p.Phe73Leu Missense 3/15 - 23
12-21325716-TT-GC c.217_218delinsGC p.Phe73Ala Missense 3/15 - 1
12-21325717-T-A c.218T>A p.Phe73Tyr Missense 3/15 - 1
12-21325719-G-C c.220G>C p.Glu74Gln Missense 3/15 - 1
12-21325720-A-C c.221A>C p.Glu74Ala Missense 3/15 - 1
12-21325721-A-C c.222A>C p.Glu74Asp Missense 3/15 - 1
12-21325721-A-T c.222A>T p.Glu74Asp Missense 3/15 - 1
12-21325814-T-G c.226+89T>G - IntronicSNV - 3/14 7
12-21325949-A-G c.226+224A>G - IntronicSNV - 3/14 3
12-21326094-T-C c.226+369T>C - IntronicSNV - 3/14 1
12-21326728-A-G c.227-783A>G - IntronicSNV - 3/14 1
12-21326756-T-G c.227-755T>G - IntronicSNV - 3/14 1
12-21326810-T-C c.227-701T>C - IntronicSNV - 3/14 1
12-21326810-T-G c.227-701T>G - IntronicSNV - 3/14 1
12-21326957-C-G c.227-554C>G - IntronicSNV - 3/14 1
12-21327104-T-G c.227-407T>G - IntronicSNV - 3/14 1
12-21327511-G-C c.227G>C p.Gly76Ala Missense 4/15 - 1
12-21327529-T-C c.245T>C p.Val82Ala Missense 4/15 - 18
12-21327552-AA-GC c.268_269delinsGC p.Lys90Ala Missense 4/15 - 1
12-21327553-A-G c.269A>G p.Lys90Arg Missense 4/15 - 1
12-21327558-CA-GC c.274_275delinsGC p.His92Ala Missense 4/15 - 1
12-21327558-CAT-AAG c.274_276delinsAAG p.His92Lys Missense 4/15 - 1
12-21327559-A-G c.275A>G p.His92Arg Missense 4/15 - 1
12-21327561-AG-GC c.277_278delinsGC p.Arg93Ala Missense 4/15 - 1
12-21327562-G-A c.278G>A p.Arg93Lys Missense 4/15 - 1
12-21327574-T-C c.290T>C p.Ile97Thr Missense 4/15 - 1
12-21327595-T-A c.311T>A p.Met104Lys Missense 4/15 - 1
12-21327618-G-T c.334G>T p.Ala112Ser Missense 4/15 - 6
12-21327740-C-A c.359+97C>A - IntronicSNV - 4/14 5
12-21327798-A-G c.359+155A>G - IntronicSNV - 4/14 1
12-21327842-A-G c.359+199A>G - IntronicSNV - 4/14 1
12-21327906-G-A c.359+263G>A - IntronicSNV - 4/14 1
12-21328211-A-G c.359+568A>G - IntronicSNV - 4/14 1
12-21328242-A-G c.359+599A>G - IntronicSNV - 4/14 2
12-21328424-G-C c.359+781G>C - IntronicSNV - 4/14 3
12-21328462-G-T c.359+819G>T - IntronicSNV - 4/14 1
12-21328565-T-C c.359+922T>C - IntronicSNV - 4/14 6
12-21329390-C-T c.360-320C>T - IntronicSNV - 4/14 1
12-21329424-T-A c.360-286T>A - IntronicSNV - 4/14 1
12-21329424-T-C c.360-286T>C - IntronicSNV - 4/14 1
12-21329730-C-T c.380C>T p.Thr127Ile Missense 5/15 - 1
12-21329738-A-G c.388A>G p.Asn130Asp Missense 5/15 - 270
12-21329738-A-T c.388A>T p.Asn130Tyr Missense 5/15 - 136
12-21329740-T-C c.390T>C p.Asn130Asn Synonymous 5/15 - 1
12-21329750-AAT-CAA c.400_402delinsCAA p.Asn134Gln Missense 5/15 - 1
12-21329761-G-A c.411G>A p.Ser137Ser Synonymous 5/15 - 16
12-21329761-G-C c.411G>C p.Ser137Ser Synonymous 5/15 - 2
12-21329761-G-T c.411G>T p.Ser137Ser Synonymous 5/15 - 2
12-21329771-A-C c.421A>C p.Thr141Pro Missense 5/15 - 1
12-21329774-T-C c.424T>C p.Cys142Arg Missense 5/15 - 1
12-21329801-A-G c.451A>G p.Asn151Asp Missense 5/15 - 1
12-21329802-A-G c.452A>G p.Asn151Ser Missense 5/15 - 7
12-21329805-G-A c.455G>A p.Arg152Lys Missense 5/15 - 2
12-21329808-C-G c.458C>G p.Ala153Gly Missense 5/15 - 1
12-21329813-C-A c.463C>A p.Pro155Thr Missense 5/15 - 105
12-21329813-C-T c.463C>T p.Pro155Ser Missense 5/15 - 59
12-21329816-G-A c.466G>A p.Glu156Lys Missense 5/15 - 1
12-21329817-A-G c.467A>G p.Glu156Gly Missense 5/15 - 16
12-21329832-G-T c.481+1G>T - IntronicSNV - 5/14 4
12-21329991-C-G c.481+160C>G - IntronicSNV - 5/14 2
12-21329991-C-T c.481+160C>T - IntronicSNV - 5/14 2
12-21329996-A-T c.481+165A>T - IntronicSNV - 5/14 4
12-21330020-G-A c.481+189G>A - IntronicSNV - 5/14 4
12-21330022-G-A c.481+191G>A - IntronicSNV - 5/14 6
12-21330022-G-C c.481+191G>C - IntronicSNV - 5/14 6
12-21330338-C-T c.481+507C>T - IntronicSNV - 5/14 1
12-21330351-A-G c.481+520A>G - IntronicSNV - 5/14 2
12-21330687-A-G c.482-823A>G - IntronicSNV - 5/14 1
12-21330988-T-C c.482-522T>C - IntronicSNV - 5/14 3
12-21331057-A-G c.482-453A>G - IntronicSNV - 5/14 1
12-21331059-A-G c.482-451A>G - IntronicSNV - 5/14 1
12-21331135-G-T c.482-375G>T - IntronicSNV - 5/14 1
12-21331179-G-A c.482-331G>A - IntronicSNV - 5/14 4
12-21331238-G-A c.482-272G>A - IntronicSNV - 5/14 1
12-21331238-G-T c.482-272G>T - IntronicSNV - 5/14 1
12-21331499-T-C c.482-11T>C - IntronicSNV - 5/14 2
12-21331535-C-T c.507C>T p.Tyr169Tyr Synonymous 6/15 - 1
12-21331537-T-C c.509T>C p.Met170Thr Missense 6/15 - 1
12-21331549-T-C c.521T>C p.Val174Ala Missense 6/15 - 670
12-21331554-A-G c.526A>G p.Met176Val Missense 6/15 - 1
12-21331569-CG-GC c.541_542delinsGC p.Arg181Ala Missense 6/15 - 1
12-21331569-CGT-AAG c.541_543delinsAAG p.Arg181Lys Missense 6/15 - 2
12-21331570-G-A c.542G>A p.Arg181His Missense 6/15 - 2
12-21331599-T-C c.571T>C p.Leu191Leu Synonymous 6/15 - 30
12-21331601-G-A c.573G>A p.Leu191Leu Synonymous 6/15 - 10
12-21331604-G-A c.576G>A p.Gly192Gly Synonymous 6/15 - 1
12-21331604-G-C c.576G>C p.Gly192Gly Synonymous 6/15 - 1
12-21331604-G-T c.576G>T p.Gly192Gly Synonymous 6/15 - 1
12-21331606-T-G c.578T>G p.Leu193Arg Missense 6/15 - 12
12-21331625-C-T c.597C>T p.Phe199Phe Synonymous 6/15 - 35
12-21331629-A-G c.601A>G p.Lys201Glu Missense 6/15 - 1
12-21331636-G-A c.608G>A p.Gly203Glu Missense 6/15 - 1
12-21331809-A-C c.629-47A>C - IntronicSNV - 6/14 1
12-21331856-G-C c.629G>C p.Gly210Ala Missense 7/15 - 1
12-21331860-A-G c.633A>G p.Ile211Met Missense 7/15 - 2
12-21331883-G-C c.656G>C p.Gly219Ala Missense 7/15 - 1
12-21331891-A-G c.664A>G p.Ile222Val Missense 7/15 - 5
12-21331907-G-C c.680G>C p.Gly227Ala Missense 7/15 - 1
12-21331926-G-A c.699G>A p.Met233Ile Missense 7/15 - 4
12-21331939-GGA-TGT c.712_714delinsTGT p.Gly238Cys Missense 7/15 - 1
12-21331948-G-A c.721G>A p.Asp241Asn Missense 7/15 - 2
12-21331963-A-C c.727+9A>C - IntronicSNV - 7/14 1
12-21331963-A-G c.727+9A>G - IntronicSNV - 7/14 1
12-21331987-C-A c.727+33C>A - IntronicSNV - 7/14 6
12-21331987-C-T c.727+33C>T - IntronicSNV - 7/14 6
12-21332147-T-A c.727+193T>A - IntronicSNV - 7/14 1
12-21332221-T-A c.727+267T>A - IntronicSNV - 7/14 4
12-21332423-G-A c.727+469G>A - IntronicSNV - 7/14 6
12-21333040-A-G c.727+1086A>G - IntronicSNV - 7/14 1
12-21333214-A-G c.727+1260A>G - IntronicSNV - 7/14 6
12-21333266-C-T c.727+1312C>T - IntronicSNV - 7/14 2
12-21333651-C-A c.727+1697C>A - IntronicSNV - 7/14 1
12-21333745-G-A c.727+1791G>A - IntronicSNV - 7/14 2
12-21333912-G-T c.727+1958G>T - IntronicSNV - 7/14 1
12-21334010-T-C c.727+2056T>C - IntronicSNV - 7/14 4
12-21334214-G-A c.727+2260G>A - IntronicSNV - 7/14 2
12-21334369-G-C c.727+2415G>C - IntronicSNV - 7/14 1
12-21334387-T-C c.727+2433T>C - IntronicSNV - 7/14 1
12-21334461-T-A c.727+2507T>A - IntronicSNV - 7/14 1
12-21334599-T-C c.727+2645T>C - IntronicSNV - 7/14 1
12-21334599-T-G c.727+2645T>G - IntronicSNV - 7/14 1
12-21334970-C-A c.727+3016C>A - IntronicSNV - 7/14 1
12-21334970-C-T c.727+3016C>T - IntronicSNV - 7/14 1
12-21335190-C-G c.727+3236C>G - IntronicSNV - 7/14 2
12-21335381-G-C c.727+3427G>C - IntronicSNV - 7/14 1
12-21335381-G-T c.727+3427G>T - IntronicSNV - 7/14 1
12-21335454-T-C c.727+3500T>C - IntronicSNV - 7/14 1
12-21336063-C-T c.727+4109C>T - IntronicSNV - 7/14 3
12-21336112-A-T c.727+4158A>T - IntronicSNV - 7/14 1
12-21338197-A-C c.727+6243A>C - IntronicSNV - 7/14 2
12-21338197-A-G c.727+6243A>G - IntronicSNV - 7/14 2
12-21338231-T-A c.727+6277T>A - IntronicSNV - 7/14 1
12-21338889-G-A c.727+6935G>A - IntronicSNV - 7/14 1
12-21340507-G-A c.727+8553G>A - IntronicSNV - 7/14 1
12-21340507-G-T c.727+8553G>T - IntronicSNV - 7/14 1
12-21341096-C-T c.728-8784C>T - IntronicSNV - 7/14 7
12-21343833-A-C c.728-6047A>C - IntronicSNV - 7/14 3
12-21343886-A-G c.728-5994A>G - IntronicSNV - 7/14 1
12-21343886-A-T c.728-5994A>T - IntronicSNV - 7/14 1
12-21345935-A-T c.728-3945A>T - IntronicSNV - 7/14 1
12-21347021-G-A c.728-2859G>A - IntronicSNV - 7/14 2
12-21347021-G-T c.728-2859G>T - IntronicSNV - 7/14 2
12-21349611-C-G c.728-269C>G - IntronicSNV - 7/14 1
12-21349611-C-T c.728-269C>T - IntronicSNV - 7/14 1
12-21349657-A-C c.728-223A>C - IntronicSNV - 7/14 1
12-21349863-A-G c.728-17A>G - IntronicSNV - 7/14 1
12-21349885-A-G c.733A>G p.Ile245Val Missense 8/15 - 9
12-21349905-T-A c.753T>A p.Asp251Glu Missense 8/15 - 1
12-21349905-T-G c.753T>G p.Asp251Glu Missense 8/15 - 1
12-21349909-C-T c.757C>T p.Arg253* Nonsense 8/15 - 3
12-21349910-G-A c.758G>A p.Arg253Gln Missense 8/15 - 5
12-21349913-GG-TT c.761_762delinsTT p.Trp254Phe Missense 8/15 - 1
12-21349924-TG-GC c.772_773delinsGC p.Trp258Ala Missense 8/15 - 1
12-21349927-TG-GC c.775_776delinsGC p.Trp259Ala Missense 8/15 - 1
12-21349933-AA-GC c.781_782delinsGC p.Asn261Ala Missense 8/15 - 1
12-21349939-C-T c.787C>T p.Leu263Phe Missense 8/15 - 1
12-21350000-C-T c.848C>T p.Pro283Leu Missense 8/15 - 1
12-21350034-G-A c.882G>A p.Leu294Leu Synonymous 8/15 - 3
12-21350083-T-G c.931T>G p.Leu311Val Missense 8/15 - 1
12-21350396-T-C c.970+274T>C - IntronicSNV - 8/14 2
12-21350401-A-T c.970+279A>T - IntronicSNV - 8/14 1
12-21350547-G-A c.970+425G>A - IntronicSNV - 8/14 1
12-21350668-T-A c.970+546T>A - IntronicSNV - 8/14 1
12-21350668-T-C c.970+546T>C - IntronicSNV - 8/14 1
12-21350790-G-A c.970+668G>A - IntronicSNV - 8/14 2
12-21350790-G-T c.970+668G>T - IntronicSNV - 8/14 2
12-21350861-A-G c.970+739A>G - IntronicSNV - 8/14 3
12-21352315-A-G c.971-1127A>G - IntronicSNV - 8/14 5
12-21352541-A-G c.971-901A>G - IntronicSNV - 8/14 7
12-21353317-T-G c.971-125T>G - IntronicSNV - 8/14 2
12-21353330-G-A c.971-112G>A - IntronicSNV - 8/14 1
12-21353471-A-T c.1000A>T p.Thr334Ser Missense 9/15 - 1
12-21353478-C-G c.1007C>G p.Pro336Arg Missense 9/15 - 8
12-21353482-GT-GTGT c.1011_1012dup p.Tyr338Cysfs*8 Frameshift 9/15 - 1
12-21353505-C-T c.1034C>T p.Thr345Met Missense 9/15 - 3
12-21353529-T-A c.1058T>A p.Ile353Asn Missense 9/15 - 9
12-21353529-T-C c.1058T>C p.Ile353Thr Missense 9/15 - 20
12-21353552-AA-GC c.1081_1082delinsGC p.Lys361Ala Missense 9/15 - 1
12-21353553-A-G c.1082A>G p.Lys361Arg Missense 9/15 - 1
12-21353556-A-T c.1085A>T p.Tyr362Phe Missense 9/15 - 1
12-21353557-C-T c.1086C>T p.Tyr362Tyr Synonymous 9/15 - 4
12-21353597-A-G c.1126A>G p.Ile376Val Missense 9/15 - 1
12-21353629-G-A c.1135+23G>A - IntronicSNV - 9/14 1
12-21353648-A-C c.1135+42A>C - IntronicSNV - 9/14 2
12-21353672-G-A c.1135+66G>A - IntronicSNV - 9/14 2
12-21353718-G-C c.1135+112G>C - IntronicSNV - 9/14 2
12-21353788-C-T c.1135+182C>T - IntronicSNV - 9/14 1
12-21353826-A-G c.1135+220A>G - IntronicSNV - 9/14 1
12-21353872-A-G c.1135+266A>G - IntronicSNV - 9/14 2
12-21353911-C-A c.1135+305C>A - IntronicSNV - 9/14 1
12-21353911-C-G c.1135+305C>G - IntronicSNV - 9/14 1
12-21354340-C-A c.1135+734C>A - IntronicSNV - 9/14 1
12-21354340-C-T c.1135+734C>T - IntronicSNV - 9/14 1
12-21354368-C-T c.1135+762C>T - IntronicSNV - 9/14 1
12-21354399-T-C c.1135+793T>C - IntronicSNV - 9/14 1
12-21354419-G-A c.1135+813G>A - IntronicSNV - 9/14 1
12-21354470-G-A c.1135+864G>A - IntronicSNV - 9/14 1
12-21354494-T-C c.1135+888T>C - IntronicSNV - 9/14 1
12-21354797-T-A c.1136-628T>A - IntronicSNV - 9/14 1
12-21354938-G-A c.1136-487G>A - IntronicSNV - 9/14 1
12-21355085-T-C c.1136-340T>C - IntronicSNV - 9/14 2
12-21355167-G-T c.1136-258G>T - IntronicSNV - 9/14 1
12-21355290-T-C c.1136-135T>C - IntronicSNV - 9/14 1
12-21355454-G-C c.1165G>C p.Gly389Arg Missense 10/15 - 1
12-21355467-G-C c.1178G>C p.Gly393Ala Missense 10/15 - 1
12-21355470-G-C c.1181G>C p.Gly394Ala Missense 10/15 - 1
12-21355487-T-G c.1198T>G p.Phe400Val Missense 10/15 - 1
12-21355489-C-G c.1200C>G p.Phe400Leu Missense 10/15 - 9
12-21355502-G-A c.1213G>A p.Val405Ile Missense 10/15 - 1
12-21355502-G-T c.1213G>T p.Val405Phe Missense 10/15 - 1
12-21355537-G-A c.1248G>A p.Val416Val Synonymous 10/15 - 3
12-21355574-C-A c.1285C>A p.Leu429Ile Missense 10/15 - 1
12-21355577-TG-AC c.1288_1289delinsAC p.Cys430Thr Missense 10/15 - 3
12-21355583-A-G c.1294A>G p.Asn432Asp Missense 10/15 - 14
12-21355583-A-T c.1294A>T p.Asn432Tyr Missense 10/15 - 6
12-21355597-C-T c.1308C>T p.Ala436Ala Synonymous 10/15 - 1
12-21355598-G-A c.1309G>A p.Gly437Arg Missense 10/15 - 2
12-21355938-C-G c.1331+318C>G - IntronicSNV - 10/14 1
12-21357711-C-T c.1332-1091C>T - IntronicSNV - 10/14 5
12-21357731-C-T c.1332-1071C>T - IntronicSNV - 10/14 1
12-21357753-G-C c.1332-1049G>C - IntronicSNV - 10/14 2
12-21357948-T-C c.1332-854T>C - IntronicSNV - 10/14 2
12-21358697-T-TC c.1332-105_1332-104insC - IntronicInsertion - 10/14 1
12-21358783-G-A c.1332-19G>A - IntronicSNV - 10/14 2
12-21358783-G-C c.1332-19G>C - IntronicSNV - 10/14 2
12-21358783-G-T c.1332-19G>T - IntronicSNV - 10/14 2
12-21358855-A-C c.1385A>C p.Asp462Ala Missense 11/15 - 3
12-21358855-A-G c.1385A>G p.Asp462Gly Missense 11/15 - 10
12-21358857-TG-GC c.1387_1388delinsGC p.Cys463Ala Missense 11/15 - 7
12-21358890-TG-AC c.1420_1421delinsAC p.Cys474Thr Missense 11/15 - 1
12-21358921-C-A c.1451C>A p.Pro484His Missense 11/15 - 1
12-21358924-G-T c.1454G>T p.Cys485Phe Missense 11/15 - 1
12-21358933-G-C c.1463G>C p.Gly488Ala Missense 11/15 - 34
12-21358965-A-G c.1495A>G p.Ile499Val Missense 11/15 - 3
12-21360735-G-A c.1497+1768G>A - IntronicSNV - 11/14 1
12-21360761-G-A c.1497+1794G>A - IntronicSNV - 11/14 1
12-21361213-A-C c.1497+2246A>C - IntronicSNV - 11/14 2
12-21361213-A-T c.1497+2246A>T - IntronicSNV - 11/14 2
12-21361587-T-G c.1497+2620T>G - IntronicSNV - 11/14 1
12-21361868-C-T c.1497+2901C>T - IntronicSNV - 11/14 1
12-21362392-C-A c.1497+3425C>A - IntronicSNV - 11/14 1
12-21362392-C-T c.1497+3425C>T - IntronicSNV - 11/14 1
12-21362562-C-T c.1497+3595C>T - IntronicSNV - 11/14 1
12-21362819-C-T c.1497+3852C>T - IntronicSNV - 11/14 1
12-21367633-G-A c.1498-2420G>A - IntronicSNV - 11/14 2
12-21368015-C-T c.1498-2038C>T - IntronicSNV - 11/14 1
12-21368722-T-C c.1498-1331T>C - IntronicSNV - 11/14 79
12-21368797-T-A c.1498-1256T>A - IntronicSNV - 11/14 10
12-21369191-T-C c.1498-862T>C - IntronicSNV - 11/14 1
12-21369785-G-A c.1498-268G>A - IntronicSNV - 11/14 1
12-21369883-C-G c.1498-170C>G - IntronicSNV - 11/14 3
12-21369964-T-C c.1498-89T>C - IntronicSNV - 11/14 3
12-21369985-G-A c.1498-68G>A - IntronicSNV - 11/14 2
12-21370065-T-G c.1510T>G p.Cys504Gly Missense 12/15 - 1
12-21370101-AAT-CAA c.1546_1548delinsCAA p.Asn516Gln Missense 12/15 - 1
12-21370103-T-C c.1548T>C p.Asn516Asn Synonymous 12/15 - 1
12-21370108-C-T c.1553C>T p.Ser518Leu Missense 12/15 - 1
12-21370137-G-A c.1582G>A p.Asp528Asn Missense 12/15 - 1
12-21370140-G-A c.1585G>A p.Ala529Thr Missense 12/15 - 1
12-21370149-AGG-TGT c.1594_1596delinsTGT p.Arg532Cys Missense 12/15 - 1
12-21370156-T-G c.1601T>G p.Phe534Cys Missense 12/15 - 1
12-21370159-A-T c.1604A>T p.Tyr535Phe Missense 12/15 - 2
12-21370161-T-A c.1606T>A p.Phe536Ile Missense 12/15 - 2
12-21370165-T-A c.1610T>A p.Phe537Tyr Missense 12/15 - 2
12-21370165-T-G c.1610T>G p.Phe537Cys Missense 12/15 - 1
12-21370170-G-A c.1615G>A p.Ala539Thr Missense 12/15 - 1
12-21370176-CAA-TGT c.1621_1623delinsTGT p.Gln541Cys Missense 12/15 - 1
12-21370177-A-G c.1622A>G p.Gln541Arg Missense 12/15 - 1
12-21370177-A-T c.1622A>T p.Gln541Leu Missense 12/15 - 1
12-21370179-GT-TG c.1624_1625delinsTG p.Val542Cys Missense 12/15 - 1
12-21370182-TTG-ATC c.1627_1629delinsATC p.Leu543Ile Missense 12/15 - 2
12-21370183-T-G c.1628T>G p.Leu543Trp Missense 12/15 - 9
12-21370185-AA-TG c.1630_1631delinsTG p.Asn544Cys Missense 12/15 - 1
12-21370189-TA-GT c.1634_1635delinsGT p.Leu545Cys Missense 12/15 - 1
12-21370189-T-C c.1634T>C p.Leu545Ser Missense 12/15 - 2
12-21370191-T-C c.1636T>C p.Phe546Leu Missense 12/15 - 2
12-21370193-T-A c.1638T>A p.Phe546Leu Missense 12/15 - 2
12-21370193-T-G c.1638T>G p.Phe546Leu Missense 12/15 - 2
12-21370198-C-G c.1643C>G p.Ser548Cys Missense 12/15 - 1
12-21370200-GCA-TGT c.1645_1647delinsTGT p.Ala549Cys Missense 12/15 - 1
12-21370203-CT-AC c.1648_1649delinsAC p.Leu550Thr Missense 12/15 - 2
12-21370206-GGA-TGT c.1651_1653delinsTGT p.Gly551Cys Missense 12/15 - 1
12-21370209-G-T c.1654G>T p.Gly552Cys Missense 12/15 - 1
12-21370212-AC-TG c.1657_1658delinsTG p.Thr553Cys Missense 12/15 - 1
12-21370215-T-A c.1660T>A p.Ser554Thr Missense 12/15 - 2
12-21370218-CA-TG c.1663_1664inv p.His555Cys Missense 12/15 - 1
12-21370218-CA-TT c.1663_1664delinsTT p.His555Phe Missense 12/15 - 2
12-21370221-G-A c.1666G>A p.Val556Ile Missense 12/15 - 2
12-21370221-GT-TG c.1666_1667delinsTG p.Val556Cys Missense 12/15 - 1
12-21370224-A-C c.1669A>C p.Met557Leu Missense 12/15 - 2
12-21370224-A-T c.1669A>T p.Met557Leu Missense 12/15 - 2
12-21370227-C-T c.1672C>T p.Leu558Leu Synonymous 12/15 - 1
12-21370231-T-C c.1676T>C p.Ile559Thr Missense 12/15 - 1
12-21370275-G-C c.1682+38G>C - IntronicSNV - 12/14 1
12-21371075-G-A c.1682+838G>A - IntronicSNV - 12/14 3
12-21371144-T-C c.1682+907T>C - IntronicSNV - 12/14 2
12-21372224-A-G c.1682+1987A>G - IntronicSNV - 12/14 2
12-21372344-A-G c.1682+2107A>G - IntronicSNV - 12/14 4
12-21372344-A-T c.1682+2107A>T - IntronicSNV - 12/14 4
12-21374838-A-G c.1683-396A>G - IntronicSNV - 12/14 4
12-21375275-A-T c.1724A>T p.His575Leu Missense 13/15 - 1
12-21375289-C-A c.1738C>A p.Arg580Arg Synonymous 13/15 - 1
12-21375289-CG-AA c.1738_1739delinsAA p.Arg580Lys Missense 13/15 - 1
12-21375289-CGA-AGC c.1738_1740delinsAGC p.Arg580Ser Missense 13/15 - 1
12-21375289-CG-GC c.1738_1739delinsGC p.Arg580Ala Missense 13/15 - 2
12-21375289-C-T c.1738C>T p.Arg580* Nonsense 13/15 - 8
12-21375290-GA-AT c.1739_1740delinsAT p.Arg580His Missense 13/15 - 1
12-21375299-G-A c.1747+1G>A - IntronicSNV - 13/14 1
12-21375307-A-G c.1747+9A>G - IntronicSNV - 13/14 1
12-21377497-C-A c.1748-159C>A - IntronicSNV - 13/14 1
12-21377559-G-C c.1748-97G>C - IntronicSNV - 13/14 11
12-21377733-A-G c.1825A>G p.Thr609Ala Missense 14/15 - 1
12-21377737-GT-AA c.1829_1830delinsAA p.Arg610Gln Missense 14/15 - 1
12-21377742-T-G c.1834T>G p.Ser612Ala Missense 14/15 - 1
12-21377752-C-T c.1844C>T p.Thr615Ile Missense 14/15 - 1
12-21377763-AC-GT c.1855_1856inv p.Thr619Val Missense 14/15 - 1
12-21377767-CA-TT c.1859_1860delinsTT p.Ser620Phe Missense 14/15 - 1
12-21377772-TC-GG c.1864_1865delinsGG p.Ser622Gly Missense 14/15 - 1
12-21377774-G-A c.1865+1G>A - IntronicSNV - 14/14 1
12-21377806-T-C c.1865+33T>C - IntronicSNV - 14/14 1
12-21377823-T-G c.1865+50T>G - IntronicSNV - 14/14 1
12-21378021-G-A c.1865+248G>A - IntronicSNV - 14/14 30
12-21379632-A-G c.1865+1859A>G - IntronicSNV - 14/14 3
12-21379980-G-A c.1865+2207G>A - IntronicSNV - 14/14 1
12-21380630-A-T c.1865+2857A>T - IntronicSNV - 14/14 1
12-21382342-T-C c.1865+4569T>C - IntronicSNV - 14/14 2
12-21382619-T-C c.1865+4846T>C - IntronicSNV - 14/14 51
12-21382730-T-G c.1865+4957T>G - IntronicSNV - 14/14 1
12-21384382-G-A c.1865+6609G>A - IntronicSNV - 14/14 4
12-21384382-G-C c.1865+6609G>C - IntronicSNV - 14/14 4
12-21385604-A-G c.1866-6309A>G - IntronicSNV - 14/14 4
12-21386018-A-G c.1866-5895A>G - IntronicSNV - 14/14 1
12-21386061-A-G c.1866-5852A>G - IntronicSNV - 14/14 4
12-21386493-A-C c.1866-5420A>C - IntronicSNV - 14/14 1
12-21386493-A-G c.1866-5420A>G - IntronicSNV - 14/14 1
12-21386509-A-C c.1866-5404A>C - IntronicSNV - 14/14 1
12-21388621-G-A c.1866-3292G>A - IntronicSNV - 14/14 3
12-21388771-ATTATTATT-ATTATTATTATTATTATT c.1866-3142_1866-3134dup - IntronicInsertion - 14/14 1
12-21388777-ATT-ATTATT c.1866-3136_1866-3134dup - IntronicInsertion - 14/14 1
12-21389037-A-T c.1866-2876A>T - IntronicSNV - 14/14 2
12-21389970-T-C c.1866-1943T>C - IntronicSNV - 14/14 1
12-21391336-T-C c.1866-577T>C - IntronicSNV - 14/14 5
12-21391352-G-A c.1866-561G>A - IntronicSNV - 14/14 2
12-21391608-A-G c.1866-305A>G - IntronicSNV - 14/14 4
12-21391818-T-C c.1866-95T>C - IntronicSNV - 14/14 1
12-21391924-T-A c.1877T>A p.Leu626* Nonsense 15/15 - 1
12-21391925-G-C c.1878G>C p.Leu626Phe Missense 15/15 - 1
12-21391959-GT-AG c.1912_1913delinsAG p.Val638Ser Missense 15/15 - 1
12-21391976-A-C c.1929A>C p.Leu643Phe Missense 15/15 - 20
12-21392011-A-G c.1964A>G p.Asp655Gly Missense 15/15 - 15
12-21392011-A-T c.1964A>T p.Asp655Val Missense 15/15 - 7
12-21392030-T-C c.1983T>C p.Asn661Asn Synonymous 15/15 - 1
12-21392031-G-A c.1984G>A p.Gly662Arg Missense 15/15 - 1
12-21392031-G-C c.1984G>C p.Gly662Arg Missense 15/15 - 1
12-21392047-A-G c.2000A>G p.Glu667Gly Missense 15/15 - 16
12-21392079-C-T c.2032C>T p.His678Tyr Missense 15/15 - 2
12-21392092-C-T c.2045C>T p.Ser682Phe Missense 15/15 - 2
12-21392205-C-T c.*82C>T - 3-UTRSNV 15/15 - 2
12-21392244-G-C c.*121G>C - 3-UTRSNV 15/15 - 1
12-21392290-T-C c.*167T>C - 3-UTRSNV 15/15 - 5
12-21392451-A-G c.*328A>G - 3-UTRSNV 15/15 - 1
12-21392562-T-G c.*439T>G - 3-UTRSNV 15/15 - 7
12-21392572-A-C c.*449A>C - 3-UTRSNV 15/15 - 4
12-21392572-A-G c.*449A>G - 3-UTRSNV 15/15 - 4
12-21392586-A-G c.*463A>G - 3-UTRSNV 15/15 - 5
12-21392698-G-A c.*575G>A - 3-UTRSNV 15/15 - 1
12-21392698-G-T c.*575G>T - 3-UTRSNV 15/15 - 1