| Reports |
| substitution |
| cSNPs | 1 |
| Insertion | 26 |
| Deletion | 14 |
| SNPs |
-1kb
24740203(c.-4672G>A),
24740211(c.-4664C>A),
24740253(c.-4622G>C),
24740476(c.-4399C>T),
24740483(c.-4392T>G),
24740541(c.-4334T>C),
24740544(c.-4331T>C),
24740622(c.-4253T>C),
24741071(c.-3804T>A),
24741426(c.-3449G>T),
24741511(c.-3364C>T),
24743106(c.-1769A>G),
24743609(c.-1266A>G),
24743964(c.-911T>C),
24744268(c.-607T>C),
24744280(c.-595A>G),
24744292(c.-583G>C),
24744307(c.-568C>T),
24744374(c.-501G>A),
24744423(c.-452T>C),
24744520(c.-355A>G),
24744569(c.-306C>T),
24744587(c.-288A>T),
24744759(c.-116G>C),
5'UTR
CDS
3'UTR
INTRON
24744998(c.96+28A>G),
24745015(c.96+45C>T),
24745016(c.96+46C>G),
24745089(c.96+119G>T),
24745097(c.96+127G>A),
24745147(c.96+177A>G),
24745336(c.96+366G>A),
24745340(c.96+370C>G),
24745540(c.96+570T>G),
24745585(c.96+615A>G),
24745589(c.96+619A>G),
24745656(c.96+686C>T),
24745690(c.96+720A>C),
24745701(c.96+731A>G),
24745791(c.96+821C>G),
24745844(c.96+874A>G),
24745877(c.96+907T>C),
24745885(c.96+915A>G),
24745949(c.97-856G>T),
24746055(c.97-750C>T),
24746114(c.97-691C>T),
24746166(c.97-639G>A),
24746528(c.97-277C>T),
24746535(c.97-270G>A),
24746590(c.97-215T>G),
24746609(c.97-196A>C),
24746762(c.97-43C>A),
24746798(c.97-7T>C),
24746963(c.246+9G>A),
24746972(c.246+18C>A),
24746987(c.246+33A>G),
24747041(c.246+87C>T),
24747258(c.246+304A>G),
24747287(c.246+333A>T),
24747314(c.246+360T>C),
24747569(c.246+615A>G),
24747636(c.246+682T>G),
24747664(c.246+710A>T),
24747771(c.246+817G>T),
24747799(c.246+845G>C),
24747861(c.246+907C>T),
24747904(c.247-896T>G),
24747955(c.247-845A>C),
24747977(c.247-823T>C),
24747989(c.247-811T>C),
24748073(c.247-727C>T),
24748215(c.247-585C>T),
24748354(c.247-446C>T),
24748390(c.247-410A>G),
24748626(c.247-174T>C),
24748629(c.247-171T>C),
24748672(c.247-128A>T),
24748965(c.325+87C>A),
24748977(c.325+99G>A),
24749018(c.325+140A>G),
24749085(c.325+207A>G),
24749107(c.325+229C>T),
24749117(c.325+239A>G),
24749133(c.325+255A>C),
24749137(c.325+259A>T),
24749267(c.325+389C>A),
24749272(c.325+394G>A),
24749274(c.325+396G>A),
24749379(c.325+501A>T),
24749407(c.325+529C>T),
24749432(c.325+554G>A),
24750077(c.325+1199C>T),
24750144(c.325+1266G>A),
24750402(c.325+1524T>C),
24750425(c.325+1547C>T),
24750430(c.325+1552C>A),
24750777(c.325+1899G>T),
24750840(c.325+1962C>G),
24750858(c.325+1980T>C),
24750915(c.325+2037T>C),
24750928(c.325+2050T>C),
24751352(c.325+2474A>G),
24751355(c.325+2477C>A),
24751444(c.325+2566T>C),
24751726(c.325+2848G>A),
24751792(c.325+2914C>A),
24751793(c.325+2915A>G),
24751806(c.325+2928G>A),
24751811(c.325+2933C>A),
24751833(c.325+2955A>G),
24751871(c.325+2993C>T),
24752009(c.325+3131G>T),
24752036(c.325+3158G>A),
24752054(c.325+3176T>G),
24752074(c.325+3196A>G),
24752096(c.325+3218C>A),
24752101(c.325+3223C>T),
24752131(c.325+3253G>C),
24752154(c.325+3276C>T),
24752163(c.325+3285C>T),
24752260(c.325+3382T>C),
24752361(c.325+3483A>G),
24752398(c.325+3520C>A),
24753157(c.325+4279G>C),
24753175(c.325+4297C>A),
24753516(c.325+4638T>C),
24753718(c.325+4840G>A),
24753848(c.325+4970C>T),
24754023(c.325+5145G>A),
24755079(c.325+6201T>C),
24755214(c.325+6336C>T),
24755506(c.325+6628T>G),
24755586(c.326-6606A>G),
24755702(c.326-6490C>T),
24755992(c.326-6200C>G),
24756562(c.326-5630T>C),
24756637(c.326-5555T>G),
24756786(c.326-5406C>A),
24756834(c.326-5358A>G),
24756906(c.326-5286T>C),
24757050(c.326-5142C>T),
24757130(c.326-5062T>A),
24757295(c.326-4897G>T),
24757663(c.326-4529C>A),
24757706(c.326-4486T>C),
24758046(c.326-4146T>G),
24758103(c.326-4089T>A),
24758153(c.326-4039A>G),
24758159(c.326-4033T>C),
24758294(c.326-3898C>G),
24758430(c.326-3762T>C),
24758583(c.326-3609G>A),
24758598(c.326-3594C>T),
24758714(c.326-3478G>A),
24758765(c.326-3427C>T),
24758778(c.326-3414C>T),
24758862(c.326-3330G>A),
24759163(c.326-3029A>C),
24759204(c.326-2988A>G),
24759241(c.326-2951C>T),
24759283(c.326-2909C>T),
24759300(c.326-2892T>C),
24759831(c.326-2361C>A),
24760088(c.326-2104A>T),
24760089(c.326-2103A>T),
24760090(c.326-2102G>A),
24760100(c.326-2092C>T),
24760136(c.326-2056G>A),
24760188(c.326-2004A>T),
24760262(c.326-1930A>G),
24760365(c.326-1827G>T),
24760390(c.326-1802G>T),
24760425(c.326-1767C>T),
24760457(c.326-1735C>T),
24760463(c.326-1729A>G),
24760466(c.326-1726C>T),
24760472(c.326-1720C>A),
24760499(c.326-1693C>T),
24760504(c.326-1688G>T),
24760528(c.326-1664G>T),
24760546(c.326-1646G>T),
24760855(c.326-1337T>C),
24760881(c.326-1311C>T),
24760890(c.326-1302G>T),
24760961(c.326-1231C>T),
24761002(c.326-1190G>A),
24761039(c.326-1153C>T),
24761051(c.326-1141A>G),
24761077(c.326-1115T>C),
24761277(c.326-915G>A),
24761460(c.326-732G>A),
24761461(c.326-731G>C),
24761526(c.326-666G>T),
24761583(c.326-609G>T),
24761675(c.326-517C>T),
24761792(c.326-400C>A),
24761878(c.326-314C>T),
24762061(c.326-131C>T),
24762120(c.326-72A>G),
+1kb
24762551(c.*256C>T),
24762580(c.*285A>G),
24762892(c.*597G>A),
24763373(c.*1078A>T),
24763390(c.*1095G>A),
24763562(c.*1267G>T),
24763566(c.*1271A>G),
24763774(c.*1479T>C),
24763793(c.*1498G>C),
24763891(c.*1596G>A),
24764352(c.*2057C>T),
24764544(c.*2249A>G),
24764588(c.*2293C>G),
24764596(c.*2301T>G),
24764619(c.*2324T>C),
24764680(c.*2385A>T),
24764681(c.*2386C>T),
24765173(c.*2878T>A),
24765709(c.*3414A>G),
24765750(c.*3455T>C),
24766006(c.*3711T>C),
24766066(c.*3771A>G),
24766079(c.*3784G>T),
24766116(c.*3821C>T),
24766120(c.*3825A>T),
24766302(c.*4007G>A),
24766416(c.*4121T>C),
24766477(c.*4182C>T),
24766482(c.*4187A>G),
24766494(c.*4199A>G),
24766497(c.*4202G>A),
24766524(c.*4229G>A),
24766676(c.*4381G>T),
24766682(c.*4387G>C),
24766683(c.*4388G>T),
24767222(c.*4927G>A),
24767278(c.*4983T>C),
24767290(c.*4995A>T),
24767297(c.*5002T>C),
24767307(c.*5012G>A),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
24745235 (c.96+266_96+272dupCAAAAGT),
24745321 (c.96+348_96+351dupAGAG),
24747005 (c.246+56dupA),
24747549 (c.246+596dupA),
24747813 (c.246+860_246+863dupGCTG),
24748102 (c.247-697_247-696insTA),
24748370 (c.247-426dupC),
24749909 (c.325+1034_325+1038dupCTTTT),
24750747 (c.325+1871_325+1872insCAC),
24754282 (c.325+5411dupT),
24757142 (c.326-5050_326-5049insTTA),
24760700 (c.326-1496_326-1491dupAAAAAA),
24761739 (c.326-452_326-449dupAGAA),
24762125 (c.326-65_326-64insACTA),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 1 |
| non-synonymous num | 0 |
| synonymous substitutions |
24746867 (p.Leu53Leu),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000190195)
|
LDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLIVLHT
SYMIYSLAPQYVMYGSQNYLIESNITSDAHKGNSTLAVPKRCDADAPKDQCTVTRTYIFL
HKFWFFSAAYYFGNWAFLVVSL*
|
|
MSMv4 transcript
|
LDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLIVLHT
SYMIYSLAPQYVMYGSQNYLIESNITSDAHKGNSTLAVPKRCDADAPKDQCTVTRTYIFL
HKFWFFSAAYYFGNWAFLVVSL*
|
| homology | 100.00 (143 / 143) |
|