Reports |
substitution |
cSNPs | 2 |
Insertion | 39 |
Deletion | 56 |
SNPs |
-1kb
19098402(c.-4854G>A),
19100052(c.-3204A>T),
19100073(c.-3183A>G),
19100228(c.-3028C>T),
19100810(c.-2446G>A),
19100836(c.-2420G>A),
19101618(c.-1638A>G),
19101687(c.-1569T>C),
19101703(c.-1553G>A),
19102246(c.-1010A>C),
19102250(c.-1006A>C),
19102438(c.-818G>C),
19102550(c.-706A>T),
5'UTR
CDS
3'UTR
INTRON
19103934(c.40-430A>G),
19105171(c.537+310G>A),
19105519(c.537+658G>A),
19105576(c.537+715C>T),
19105607(c.537+746G>A),
19105672(c.537+811G>T),
19105950(c.537+1089G>A),
19106973(c.538-1277C>A),
19108112(c.538-138G>C),
19108373(c.598+63T>C),
19108419(c.598+109G>A),
19108754(c.598+444C>G),
19109397(c.598+1087T>C),
19110590(c.598+2280C>A),
19110693(c.598+2383C>T),
19110901(c.598+2591A>C),
19111605(c.598+3295T>A),
19111649(c.598+3339T>G),
19112146(c.598+3836A>G),
19112457(c.598+4147T>C),
19112538(c.598+4228G>A),
19112682(c.598+4372G>T),
19112812(c.598+4502G>C),
19112909(c.598+4599G>A),
19112939(c.598+4629A>T),
19112983(c.598+4673C>A),
19113031(c.598+4721T>C),
19113143(c.598+4833T>C),
19113152(c.598+4842T>C),
19113437(c.598+5127C>T),
19113702(c.599-5128C>T),
19113712(c.599-5118T>C),
19113761(c.599-5069C>T),
19113831(c.599-4999G>A),
19113839(c.599-4991A>C),
19113926(c.599-4904G>A),
19113930(c.599-4900A>G),
19114010(c.599-4820T>G),
19114105(c.599-4725C>A),
19114207(c.599-4623T>C),
19114211(c.599-4619T>C),
19114215(c.599-4615T>C),
19114411(c.599-4419G>A),
19114466(c.599-4364G>T),
19114497(c.599-4333C>T),
19114565(c.599-4265G>A),
19114598(c.599-4232C>T),
19115101(c.599-3729A>C),
19115212(c.599-3618A>C),
19115213(c.599-3617G>C),
19116263(c.599-2567A>G),
19116373(c.599-2457T>A),
19116475(c.599-2355T>C),
19116535(c.599-2295T>G),
19116568(c.599-2262G>A),
19116631(c.599-2199T>C),
19116637(c.599-2193A>G),
19116665(c.599-2165G>A),
19116686(c.599-2144T>C),
19116690(c.599-2140C>A),
19116801(c.599-2029T>C),
19116809(c.599-2021T>C),
19116907(c.599-1923C>T),
19117059(c.599-1771C>T),
19117184(c.599-1646G>A),
19117207(c.599-1623A>C),
19117302(c.599-1528G>A),
19117312(c.599-1518C>G),
19117320(c.599-1510A>G),
19117321(c.599-1509G>T),
19117400(c.599-1430A>G),
19117650(c.599-1180T>C),
19118237(c.599-593G>C),
19118456(c.599-374A>G),
19118529(c.599-301G>C),
19118641(c.599-189C>G),
19118734(c.599-96T>A),
19119300(c.883+20C>T),
19119354(c.883+74G>T),
19119700(c.883+420C>T),
19119726(c.883+446C>T),
19119740(c.883+460T>C),
19120062(c.883+782G>C),
19120124(c.883+844A>G),
19120645(c.883+1365G>A),
19121550(c.883+2270T>C),
19121958(c.883+2678A>T),
19121990(c.883+2710A>G),
19122150(c.883+2870T>A),
19122605(c.883+3325G>A),
19122806(c.883+3526T>C),
19122849(c.883+3569C>A),
19122928(c.883+3648G>A),
19123018(c.883+3738G>C),
19123061(c.883+3781G>A),
19123202(c.883+3922T>G),
19123247(c.883+3967A>G),
19123373(c.883+4093T>C),
19123377(c.883+4097T>C),
19123384(c.883+4104C>G),
19123389(c.883+4109G>C),
19123541(c.883+4261A>C),
19123667(c.883+4387G>T),
19124189(c.883+4909T>G),
19124328(c.883+5048A>C),
19124550(c.883+5270A>G),
19124605(c.883+5325T>A),
19124822(c.883+5542G>A),
19124830(c.883+5550A>G),
19124852(c.883+5572T>A),
19124872(c.883+5592C>G),
19124902(c.883+5622C>T),
19124934(c.883+5654T>C),
19125017(c.883+5737A>G),
19125050(c.883+5770T>C),
19125077(c.883+5797A>G),
19125083(c.883+5803C>T),
19125096(c.883+5816T>C),
19125141(c.883+5861A>C),
19125291(c.883+6011A>C),
19132666(c.884-10171T>C),
19132717(c.884-10120A>G),
19132836(c.884-10001A>T),
19133396(c.884-9441T>C),
19133473(c.884-9364G>C),
19133722(c.884-9115A>T),
19133729(c.884-9108G>A),
19133786(c.884-9051G>A),
19133989(c.884-8848A>G),
19133990(c.884-8847C>T),
19133991(c.884-8846A>G),
19134119(c.884-8718A>G),
19134133(c.884-8704A>G),
19134161(c.884-8676C>T),
19134162(c.884-8675T>A),
19134205(c.884-8632C>A),
19134231(c.884-8606C>T),
19134258(c.884-8579T>A),
19134334(c.884-8503A>G),
19134500(c.884-8337G>A),
19134795(c.884-8042C>T),
19134900(c.884-7937C>T),
19135107(c.884-7730A>G),
19135215(c.884-7622A>G),
19135705(c.884-7132G>C),
19135855(c.884-6982G>A),
19136011(c.884-6826G>C),
19136687(c.884-6150C>T),
19136904(c.884-5933C>T),
19137029(c.884-5808A>C),
19137030(c.884-5807T>A),
19137031(c.884-5806T>A),
19137033(c.884-5804G>T),
19137129(c.884-5708C>T),
19137231(c.884-5606T>A),
19137378(c.884-5459G>A),
19138091(c.884-4746A>G),
19138190(c.884-4647A>C),
19138312(c.884-4525C>A),
19139234(c.884-3603T>C),
19139254(c.884-3583C>T),
19139280(c.884-3557G>T),
19139286(c.884-3551G>A),
19139383(c.884-3454A>C),
19139542(c.884-3295A>G),
19139586(c.884-3251C>G),
19139730(c.884-3107A>T),
19139757(c.884-3080A>G),
19139923(c.884-2914G>A),
19139966(c.884-2871T>A),
19140005(c.884-2832C>A),
19140039(c.884-2798G>A),
19140109(c.884-2728G>A),
19140114(c.884-2723T>A),
19140123(c.884-2714G>A),
19140195(c.884-2642G>A),
19140383(c.884-2454A>T),
19140417(c.884-2420C>A),
19140622(c.884-2215A>G),
19140692(c.884-2145T>C),
19140854(c.884-1983C>A),
19140916(c.884-1921T>C),
19141066(c.884-1771G>A),
19141213(c.884-1624A>G),
19141309(c.884-1528G>A),
19141313(c.884-1524G>A),
19141467(c.884-1370G>A),
19141488(c.884-1349C>A),
19141714(c.884-1123T>G),
19141866(c.884-971G>T),
19142113(c.884-724T>C),
19142289(c.884-548G>A),
19142316(c.884-521T>C),
19142753(c.884-84A>G),
19142986(c.1025+8A>C),
19143033(c.1025+55T>C),
19143200(c.1025+222T>G),
19143212(c.1025+234G>C),
19143307(c.1025+329C>T),
19143506(c.1025+528C>T),
19143647(c.1025+669A>T),
19143680(c.1025+702G>C),
19143698(c.1025+720G>A),
19143702(c.1025+724G>A),
19143724(c.1025+746T>G),
19143767(c.1025+789G>A),
19143841(c.1025+863C>A),
19144550(c.1025+1572G>A),
19145145(c.1025+2167A>G),
19145387(c.1025+2409T>C),
19145430(c.1025+2452A>G),
19145702(c.1026-2602A>T),
19146068(c.1026-2236T>C),
19146116(c.1026-2188A>G),
19146184(c.1026-2120A>G),
19146213(c.1026-2091T>C),
19146223(c.1026-2081T>C),
19146226(c.1026-2078G>T),
19146246(c.1026-2058T>A),
19146247(c.1026-2057C>T),
19146296(c.1026-2008T>C),
19146340(c.1026-1964A>T),
19146392(c.1026-1912G>A),
19146404(c.1026-1900C>T),
19146418(c.1026-1886T>C),
19146420(c.1026-1884T>A),
19146458(c.1026-1846C>G),
19146541(c.1026-1763T>C),
19146634(c.1026-1670G>A),
19146716(c.1026-1588A>G),
19146720(c.1026-1584C>A),
19146750(c.1026-1554A>G),
19148035(c.1026-269C>A),
19148114(c.1026-190A>G),
19148160(c.1026-144G>T),
19148240(c.1026-64A>G),
19148450(c.1139+33C>A),
19148521(c.1139+104T>C),
19148526(c.1139+109A>G),
19148532(c.1139+115T>C),
19148541(c.1139+124G>T),
19148557(c.1139+140A>G),
19148647(c.1139+230T>C),
19148707(c.1139+290T>G),
19148891(c.1139+474T>C),
19148896(c.1139+479A>G),
19148944(c.1139+527T>C),
19148945(c.1139+528G>A),
19149050(c.1139+633T>A),
19149071(c.1139+654G>C),
19149082(c.1139+665A>G),
19149183(c.1139+766G>A),
19149666(c.1139+1249A>C),
19149692(c.1139+1275C>T),
19149708(c.1139+1291A>G),
19149755(c.1139+1338C>G),
19149757(c.1139+1340A>G),
19149985(c.1139+1568G>C),
19150136(c.1139+1719C>T),
19150619(c.1139+2202T>A),
19150672(c.1139+2255C>T),
19150804(c.1139+2387A>G),
19151059(c.1139+2642C>T),
19151365(c.1139+2948C>A),
19151628(c.1139+3211T>A),
19151729(c.1139+3312A>G),
19151911(c.1139+3494T>C),
19152101(c.1139+3684C>T),
19154023(c.1139+5606G>T),
19154569(c.1139+6152C>T),
19155191(c.1139+6774T>C),
19155388(c.1139+6971T>C),
19155453(c.1139+7036C>T),
19156025(c.1139+7608G>A),
19156051(c.1139+7634C>T),
19156318(c.1139+7901A>G),
19156347(c.1139+7930A>C),
19156379(c.1139+7962G>A),
19156569(c.1139+8152A>G),
19157263(c.1140-8696G>A),
19157498(c.1140-8461C>T),
19157620(c.1140-8339C>T),
19158991(c.1140-6968C>G),
19159124(c.1140-6835A>G),
19159178(c.1140-6781A>T),
19159215(c.1140-6744A>G),
19159334(c.1140-6625A>G),
19159566(c.1140-6393A>G),
19160805(c.1140-5154T>A),
19161474(c.1140-4485T>A),
19161862(c.1140-4097T>A),
19162278(c.1140-3681G>A),
19162404(c.1140-3555A>G),
19162430(c.1140-3529C>T),
19162849(c.1140-3110T>C),
19163738(c.1140-2221A>G),
19163799(c.1140-2160T>C),
19164119(c.1140-1840G>A),
19164373(c.1140-1586G>A),
19164683(c.1140-1276G>T),
19165570(c.1140-389G>T),
19165766(c.1140-193T>G),
+1kb
|
Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
19108158 (c.538-88dupG),
19109988 (c.598+1678_598+1679insC),
19111843 (c.598+3542dupG),
19112405 (c.598+4097dupG),
19112745 (c.598+4441_598+4445dupCCCCA),
19113281 (c.598+4971dupG),
19113304 (c.598+5004dupT),
19113990 (c.599-4840_599-4839dupCC),
19114073 (c.599-4757_599-4756insCAGG),
19116867 (c.599-1954dupA),
19117680 (c.599-1149dupG),
19117853 (c.599-977dupT),
19117933 (c.599-887dupC),
19121582 (c.883+2302dupT),
19121627 (c.883+2356_883+2357dupTG),
19121638 (c.883+2358_883+2359dupGT),
19123058 (c.883+3778_883+3779insC),
19133430 (c.884-9404dupA),
19134080 (c.884-8750_884-8749dupAA),
19134423 (c.884-8414_884-8413insTTA),
19139715 (c.884-3122_884-3121insTA),
19139838 (c.884-3001_884-2999dupAAA),
19139862 (c.884-2975_884-2974insAAAAG),
19143394 (c.1025+417_1025+418insCTA),
19145837 (c.1026-2465dupT),
19146043 (c.1026-2261_1026-2260insAAT),
19148008 (c.1026-297_1026-296dupCA),
19148060 (c.1026-242_1026-241insGTGTTG),
19149173 (c.1139+757_1139+758dupTG),
19150323 (c.1139+1908dupA),
19161383 (c.1140-4569dupA),
19161631 (c.1140-4330_1140-4328dupGTT),
19161643 (c.1140-4307_1140-4305dupGTT),
19161657 (c.1140-4302_1140-4301insGTT),
+1kb
|
Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
19103309 (c.39+28_39+29delTG),
19107307 (c.538-931delT),
19108589 (c.598+280_598+281delTA),
19112066 (c.598+3764_598+3765delGG),
19113933 (c.599-4896delA),
19114181 (c.599-4619_599-4612delTATTTATT),
19114523 (c.599-4298_599-4296delGGG),
19114717 (c.599-4103_599-4102delTT),
19115566 (c.599-3257delT),
19116512 (c.599-2317delT),
19117030 (c.599-1787_599-1786delTT),
19117246 (c.599-1579delA),
19121203 (c.883+1945_883+1948delTTAT),
19124905 (c.883+5626_883+5627delGT),
19125469 (c.883+6198delT),
19134396 (c.884-8440delT),
19134485 (c.884-8348delA),
19134488 (c.884-8348delA),
19134995 (c.884-7841_884-7837delTTTTT),
19135006 (c.884-7829_884-7825delTGTTT),
19137033 (c.884-5802_884-5797delGTAGAC),
19137961 (c.884-4871delG),
19138233 (c.884-4595delG),
19138952 (c.884-3883_884-3882delAC),
19139555 (c.884-3281_884-3280delAA),
19140071 (c.884-2765_884-2762delAACG),
19140394 (c.884-2441delA),
19144413 (c.1025+1444_1025+1447delGGGG),
19146082 (c.1026-2221_1026-2220delTT),
19146594 (c.1026-1703delT),
19148044 (c.1026-259delT),
19148586 (c.1139+170_1139+174delACGTA),
19148596 (c.1139+180_1139+183delGATG),
19149549 (c.1139+1141delT),
19149829 (c.1139+1413_1139+1416delGTTC),
19150539 (c.1139+2123_1139+2126delTTTT),
19151503 (c.1139+3094delG),
19152798 (c.1139+4390delT),
19152806 (c.1139+4390delT),
19152873 (c.1139+4457_1139+4462delTTTTTT),
19152996 (c.1139+4580_1139+4582delAAC),
19153656 (c.1139+5240_1139+5242delAAG),
19153717 (c.1139+5301_1139+5305delTGGGG),
19153726 (c.1139+5310_1139+5313delGGGG),
19154257 (c.1139+5841_1139+5843delGTT),
19156256 (c.1139+7846delT),
19157129 (c.1139+8713_1139+8714delTT),
19157197 (c.1140-8753delA),
19157593 (c.1140-8359delT),
19159869 (c.1140-6088delT),
19162777 (c.1140-3175_1140-3170delCCCCCC),
19163751 (c.1140-2198_1140-2197delAA),
+1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 2 |
non-synonymous num | 0 |
synonymous substitutions |
19142949 (p.Thr332Thr),
19148388 (p.Leu370Leu),
|
non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000037294)
|
MSTTFPGLVHDAEIRHDGSNSYRLMQLGCLESVANSTVAYSSSSPLTYSTTGTEFASPYF
STNHQYTPLHHQSFHYEFQHSHPAVTPDAYSLNSLHHSQQYYQQIHHGEPTDFINLHNAR
ALKSSCLDEQRRELGCLDAYRRHDLSLMSHGSQYGMHPDQRLLPGPSLGLAAAGADDLQG
SVEAQCGIVLNGQGGVIRRGGTCVVNPTDLFCSVPGRLSLLSSTSKYKVTIAEVKRRLSP
PECLNASLLGGILRRAKSKNGGRCLREKLDRLGLNLPAGRRKAANVTLLTSLVEGEALHL
ARDFGYTCETEFPAKAVGEHLARQHMEQKEQTARKKMILATKQICKEFQDLLSQDRSPLG
SSRPTPILDLDIQRHLTHFSLITHGFGTPAICAALSTFQTVLSEMLNYLEKHTTHKNGGA
ADSGQGHANSEKAPLRKASEAAVKEGKTEKTD*
|
MSMv4 transcript
|
MSTTFPGLVHDAEIRHDGSNSYRLMQLGCLESVANSTVAYSSSSPLTYSTTGTEFASPYF
STNHQYTPLHHQSFHYEFQHSHPAVTPDAYSLNSLHHSQQYYQQIHHGEPTDFINLHNAR
ALKSSCLDEQRRELGCLDAYRRHDLSLMSHGSQYGMHPDQRLLPGPSLGLAAAGADDLQG
SVEAQCGIVLNGQGGVIRRGGTCVVNPTDLFCSVPGRLSLLSSTSKYKVTIAEVKRRLSP
PECLNASLLGGILRRAKSKNGGRCLREKLDRLGLNLPAGRRKAANVTLLTSLVEGEALHL
ARDFGYTCETEFPAKAVGEHLARQHMEQKEQTARKKMILATKQICKEFQDLLSQDRSPLG
SSRPTPILDLDIQRHLTHFSLITHGFGTPAICAALSTFQTVLSEMLNYLEKHTTHKNGGA
ADSGQGHANSEKAPLRKASEAAVKEGKTEKTD*
|
homology | 100.00 (453 / 453) |
|