+1kb

53351341(c.-2875G>T), 53351395(c.-2929A>G), 53351539(c.-3073G>A), 53351582(c.-3116G>C), 53352115(c.-3649T>G), 53352779(c.-4313C>T), 53352824(c.-4358T>G), 53353448(c.-4982A>G), 53353504(c.-5038A>C), 53353526(c.-5060A>G), 53353651(c.-5185C>T), 53353654(c.-5188C>T), 53353672(c.-5206C>G), 53353673(c.-5207A>G), 53353692(c.-5226G>T), 53353804(c.-5338A>G), 53353952(c.-5486C>T), 53354057(c.-5591A>G), 53354098(c.-5632A>G), 53354099(c.-5633C>G), 53354174(c.-5708T>G), 53354280(c.-5814A>G), 53354304(c.-5838G>A), 53354307(c.-5841C>T), 53354385(c.-5919A>G), 53354489(c.-6023T>G), 53354604(c.-6138C>T), 53354674(c.-6208T>C), 53354730(c.-6264A>T), 53354973(c.-6507G>C), 53354990(c.-6524A>G), 53355262(c.-6796A>T), 53355268(c.-6802A>G), 53355317(c.-6851G>A), 53355429(c.-6963A>G), 53355611(c.-7145C>T), 53355619(c.-7153A>G), 53355668(c.-7202G>C), 53355799(c.-7333C>T), 53355885(c.-7419C>A), 53355906(c.-7440A>G), 53355982(c.-7516G>T), 53356075(c.-7609A>G), 53356101(c.-7635T>C), 53356111(c.-7645G>T), 53356144(c.-7678G>T),

5'UTR

53350039(c.-145C>T), 53350061(c.-167G>A), 53350892(c.-181A>G), 53350980(c.-269C>T), 53351032(c.-321C>T), 53351084(c.-373T>C), 53351139(c.-428A>G),

CDS

53348332(c.135T>C), 53348353(c.114G>A), 53348360(c.107G>A), 53348368(c.99C>T), 53348401(c.66T>C), 53348433(c.34A>G),

3'UTR

INTRON

53348846(c.-92-288T>C), 53348947(c.-92-389A>G), 53349008(c.-92-450T>C), 53349265(c.-92-707A>G), 53349307(c.-93+680C>T), 53349416(c.-93+571C>G), 53349494(c.-93+493G>A), 53349559(c.-93+428A>G), 53349658(c.-93+329G>T), 53349734(c.-93+253A>G), 53349964(c.-93+23T>G), 53350185(c.-168-123G>A), 53350198(c.-168-136G>A), 53350220(c.-168-158T>C), 53350231(c.-168-169T>C), 53350238(c.-168-176A>G), 53350278(c.-168-216T>C), 53350364(c.-168-302T>C), 53350414(c.-168-352T>C), 53350543(c.-169+337A>T), 53350593(c.-169+287C>T), 53350611(c.-169+269A>G), 53350653(c.-169+227C>A), 53350703(c.-169+177A>C), 53350758(c.-169+122A>G), 53350762(c.-169+118T>C), 53350824(c.-169+56T>C), 53350830(c.-169+50T>C), 53350834(c.-169+46C>A),

-1kb

53343485(c.*4753G>A), 53343610(c.*4628T>G), 53343650(c.*4588A>T), 53343726(c.*4512A>G), 53343813(c.*4425A>C), 53343820(c.*4418T>C), 53343822(c.*4416T>C), 53344012(c.*4226C>T), 53344208(c.*4030A>G), 53344266(c.*3972C>G), 53344320(c.*3918G>T), 53344402(c.*3836A>C), 53344445(c.*3793C>T), 53344502(c.*3736T>G), 53344521(c.*3717C>T), 53344643(c.*3595A>T), 53345068(c.*3170C>A), 53345096(c.*3142A>G), 53345135(c.*3103T>G), 53345261(c.*2977T>C), 53345381(c.*2857A>T), 53345444(c.*2794G>T), 53345458(c.*2780G>A), 53345459(c.*2779T>G), 53345476(c.*2762A>G), 53345509(c.*2729C>G), 53345562(c.*2676G>A), 53345563(c.*2675T>C), 53345569(c.*2669T>G), 53345591(c.*2647C>T), 53345723(c.*2515T>A), 53345727(c.*2511C>T), 53345776(c.*2462A>G), 53345817(c.*2421T>A), 53345835(c.*2403A>G), 53345901(c.*2337G>A), 53345975(c.*2263G>A), 53345988(c.*2250T>C), 53346046(c.*2192G>T), 53346320(c.*1918A>G), 53346352(c.*1886G>A), 53346364(c.*1874G>T), 53346370(c.*1868T>G), 53346398(c.*1840T>C), 53346669(c.*1569C>T), 53346674(c.*1564C>T), 53346956(c.*1282T>A), 53346986(c.*1252C>T), 53347220(c.*1018A>C), 53347297(c.*941A>G), 53347305(c.*933C>A), 53347522(c.*716T>C), 53347851(c.*387G>A), 53347976(c.*262A>C), 53347986(c.*252A>G), 53348211(c.*27G>A),

+1kb

53351358 (c.-2896_-2893dupGTTG), 53353716 (c.-5251_-5250insTT), 53355291 (c.-6826_-6825insTC), 53355345 (c.-6880_-6879insAA), 53355353 (c.-6888_-6887insAA),

5'UTR

CDS

3'UTR

INTRON

53349175 (c.-92-618_-92-617insTAAACA), 53350849 (c.-169+30_-169+31insAGTACA),

-1kb

53343544 (c.*4692_*4693dupCT), 53345093 (c.*3144_*3145insT), 53345097 (c.*3140dupT), 53346149 (c.*2088_*2089insTTT),

+1kb

53352099 (c.-3634delT), 53353538 (c.-5076_-5073delGTTT), 53355056 (c.-6592_-6591delAA), 53356176 (c.-7711delG),

5'UTR

CDS

3'UTR

INTRON

53349402 (c.-93+582_-93+584delTGT),

-1kb

53344109 (c.*4126_*4128delTCA), 53345014 (c.*3220_*3223delAAAA), 53345083 (c.*3154delT), 53345292 (c.*2940_*2945delGATGAT), 53346357 (c.*1876_*1880delACCAC), 53346501 (c.*1736delT),

MCGICCSVSFSIEHFSKELKEDLLHNLRRRGPNSSRQLLKSAVNYQCLFSGHVLHLRGVL
TIQPVEDEHGNVFLWN

MCGICCSVSFSVEHFSKELKEDLLHNLRRRGPNSSKQLLKSAVNYQCLFSGHVLHLRGVL
TIQPVEDEHGNVFLWN

..........GTTTAGAAGTCTGTACCTGTTCTTCCAGACTCAGGCAAAAGCTTCTTAGC
CGATTTTCTCAGCTGCCTGTTACCTTAAAATATATTCTCAACTTTAAGTGATCCTAAAAA
CATCTGTTTGGTCATCTCTTTATTATTCAACAAGAGAAAGGAGCACCCTAGCAAATTAAT
TTTTTTCTATACCTTTAGGATAGGATTTCATAAATAACTCAGGCCAGCCTCAGATATTAT
TGCTTAGGCATTACTTGAATAATTCTCTTGCCTAATAGCCAGGATTTCAGGGAGGCAACC
CCATACCGGAACTAGTCCTAACTTCCAGTTACAGACGAAAATCTTTAAACGTGTAGAGTG
GAAGGGTGTGGGTATAGTCTTTTCAGATATTAAACATTCCTAAATTCTGTATTTTTTCTG
TCCTATATGATATCTTCAGTACATTGCCTAATTCCCGCTGTACCACAGTGTACTGTGGTG
TCACCTAAAGTGACACCTGTCATTCCTGTAATGAGCATAAAAACACTGTACAAGCAGACT
TGAATCTCAAGGAAAGCGTACTCAATATGGCTTTGTAGGTTATTAGTACAGCTCTCAGGA
CTTAATAGACTATTTGCCTAGCTTAACGATACCAGCAATATGCAGTCCTTAATACTTGAA
ATAGAATGATACAGTGGTGGAAAATCATGTTGGATCAGTGCAGCTAGGGCATTCAGTACC
ATAGTACCATTTCATTTGTTTTATCCAAATGTCTGGCTGTCATCTAGTGCATACATCATA
AAACCATTGGTTGTTGGTAAAGAGGAGAACCCACATTCATTTTATTTCTCTCTTTTTGTC
TACAGCAAGACCTTATAAAACTAAAAGATTGGGTTTTTGTTGTTTTCGGGGGAGGTTTTG
TTTGTTTTTGGTTCTTTTGTTTGGTTGTTTTTTGTTTTTTTCAATACAGGGTTTCTCTGT
GTAGCTCTGGCTGTCACAGAACTCAGTCTGTAGACCAGGCTGGCCTCGAA

CTCAGAAATCTGCCTGCCTCTGCCTCTCAAGTGCTGAGATTAAAGGCGTGCGCCACCACT
GCCTGGCTTAAAAGATTGGTATTAATTTGGGTAGGCAGTGGCTCACCCTGGTTAAAGATG
TGAGCTGTGGTAACTGGCCCCTGGCAAGCCTATGCTTCTCCTTCTCAAGCTGTCTTCTAC
TGATTCCAGACCGAGTGCTGTTGATTTGTTCAGTGTCCATTTAGACAGGCAGTCCATTAT
AGCTCCCAACCCCATCTTTAGTTTTAAAGCAGTGACTTAAAATGTTCTCGCTAAATATAC
TTTGAAATCTTCCACTTTAGATTTTTTTCTTTACTTTAATAGATTAAAGAACAGAAAATT
ATTGTGGATGAACTTTCTAATCTGAAGAAGAATCGG

GTGAGTTGCTGTGGAAATCTGAATA..........CTGATCTTGTCAATTTCGTTTGCAG

AAAGTATACAAGCAGCAACAGAATAGCAACATATTCTTTCTTGAAGATCGAACAAAAATC
TTTTCTGAAAGCAAAA

GTGAGTGGTGGTCGTCTTGGTTGTT..........ATTTTTTCTCACTTCCTCCTAACAG

ATACATTAGACGAACTAAAAAAAGAATACCAAGCATTAGAAACCTCCGAGACAACCAAAG
TCAAGACACAGTCAACCTGACTTCACATAACCATGTGTGGCATTTGCTGTTCTGTAAGCT
TCTCTGTTGAACACTTCAGTAAAGAGTTAAAAGAGGACTTGCTGCATAATCTTAGACGGC
GGGGCCCCAATAGCAGCAAGCAGTTATTAAAATCTGCTGTTAACTACCAGTGTTTATTTT
CTGGTCATGTTCTTCATTTAAGAGGTGTTTTGACTATCCAACCTGTAGAAGATGAACATG
GCAATGTGTTCTTATGGAATG

GAGAAGTTTTTAATGGAGTAAAGGTTAAAGCAGAAGATAATGACACCCAGGTTATGTTCA
ATAGCCTTTCTGCCTGTAAGAATGAGTCTGAAATTTTGCTGCTCTTCTCTAAAGTGCAAG
GTCCATGGTCGTTTATCTATTATCAGGCCTCTAGCCATCACTTATGGTTTGGTAGGGACT
TTTTTGGTCGGCGTAGCTTGCTTTGGCAGTTTAGTAATCTGGGCAAGAGTTTCTGCCTTT
CGTCAGTTGGTGCCCAGGTATCTGGAGTTGCAGACCAGTGGCAAGAAGTTCCAGCATCTG
GAATTTTCCAGATTGATCTCAATTCTGCTGCTGTTTCCAGATCTGTGATCTTAAAATTAT
ATCCTTGGAGATACATTTCTAAGGAGAATATTGCCGAAGAATGTGGTAATGACCTGACTC
AGACTCCAGCAGGATTGCCAGAGTTTGTATCAGTGGTAATAAATGAAGCCAACCTGTACC
TCTCAAAACCTGTCGTTCCCTTAAATAAGAAGCTGCCTGAGAGTCCATTGGAAATCCAAT
GTAGAAACAGTTCTAGCACTTCAGGTACAAGAGAGACACTTGAGGTATTTCTTACAGATG
AACACACAAAAAAAATAGTTCAGCAGTTCATTGCCATCCTCAATGTTTCAGTCAAGAGAC
GCATCTTATGTTTAGCTAGGGAAGAAAACCTGGCATCAAAGGAAGTTTTAAAAACCTGCA
GTTCGAAAGCAAACATTGCGATCCTGTTTTCTGGAGGTGTTGATTCTATGGTGATTGCAG
CCCTTGCTGATCGTCATATTCCTTTAGATGAGCCAATTGATCTTCTGAATGTGGCTTTTG
TGCCTAAACAAAAAACAGGGCTACCTATTCCTAACATAGAAAGAAAACAGCAGAACCACC
ATGAGATCCCTTCTGAAGAGTCCTCTCAGAGTACTGCTGCGGATGAGGGGCCAGGTGAGG
CTGAGGTACCAGACCGAGTCACAGGAAAAGCAGGACTAAA..........