| Reports |
| substitution |
| cSNPs | 4 |
| Insertion | 27 |
| Deletion | 35 |
| SNPs |
-1kb
40319717(c.-6778C>T),
40319723(c.-6772G>C),
40319741(c.-6754G>A),
40319893(c.-6602T>C),
40319902(c.-6593T>C),
40319958(c.-6537T>C),
40319980(c.-6515A>C),
40319983(c.-6512A>C),
40320020(c.-6475C>T),
40320087(c.-6408A>G),
40320272(c.-6223T>C),
40320313(c.-6182T>C),
40320384(c.-6111G>A),
40320420(c.-6075C>G),
40320472(c.-6023A>G),
40320550(c.-5945A>G),
40320611(c.-5884G>C),
40320767(c.-5728C>T),
40320783(c.-5712A>T),
40321009(c.-5486T>C),
40321767(c.-4728C>G),
40321784(c.-4711T>C),
40321857(c.-4638T>C),
40322012(c.-4483G>A),
40322056(c.-4439T>C),
40322217(c.-4278G>A),
40322356(c.-4139C>G),
40322403(c.-4092A>C),
40322426(c.-4069G>A),
40322439(c.-4056G>T),
40322573(c.-3922T>C),
40322898(c.-3597A>G),
40323132(c.-3363G>A),
40323293(c.-3202T>C),
40323352(c.-3143A>G),
40323390(c.-3105A>C),
40323392(c.-3103C>T),
40323443(c.-3052C>T),
40323471(c.-3024C>T),
40323485(c.-3010C>T),
40323639(c.-2856C>G),
40323643(c.-2852G>C),
40323667(c.-2828A>G),
40323676(c.-2819C>A),
40323768(c.-2727C>T),
40323797(c.-2698G>T),
40323950(c.-2545C>T),
40323954(c.-2541T>A),
40324090(c.-2405C>T),
40324091(c.-2404A>G),
40324092(c.-2403G>A),
40324154(c.-2341G>A),
40324241(c.-2254T>A),
40324295(c.-2200G>A),
40324458(c.-2037T>A),
40324496(c.-1999T>A),
40324571(c.-1924A>C),
40324642(c.-1853C>T),
40324644(c.-1851C>T),
5'UTR
CDS
3'UTR
40365686(c.*241T>C),
40366150(c.*705T>C),
40366373(c.*928C>T),
40366978(c.*1533C>T),
40367137(c.*1692G>A),
40367223(c.*1778C>T),
40367225(c.*1780T>A),
40367327(c.*1882A>G),
40367378(c.*1933C>T),
40367432(c.*1987C>T),
40367562(c.*2117A>C),
INTRON
40324806(c.-7+57T>C),
40324936(c.-7+187T>A),
40324999(c.-7+250C>T),
40325023(c.-7+274G>A),
40325148(c.-7+399G>T),
40325218(c.-7+469A>G),
40325242(c.-7+493A>C),
40325284(c.-7+535A>G),
40325476(c.-7+727A>T),
40325528(c.-7+779A>G),
40325558(c.-7+809G>A),
40325582(c.-7+833G>C),
40325612(c.-7+863A>G),
40325811(c.-6-678G>A),
40325843(c.-6-646G>A),
40325856(c.-6-633A>G),
40325864(c.-6-625T>C),
40326051(c.-6-438T>G),
40326084(c.-6-405C>T),
40326102(c.-6-387A>G),
40326110(c.-6-379A>T),
40326125(c.-6-364C>T),
40326181(c.-6-308G>T),
40326228(c.-6-261C>T),
40326272(c.-6-217C>A),
40326277(c.-6-212A>C),
40326408(c.-6-81A>G),
40326426(c.-6-63C>G),
40326451(c.-6-38C>T),
40326587(c.64+29T>C),
40326665(c.64+107G>A),
40326883(c.64+325C>T),
40326962(c.64+404C>T),
40327104(c.65-268A>G),
40327115(c.65-257A>G),
40327218(c.65-154G>A),
40327790(c.299+184A>G),
40327825(c.299+219A>G),
40327848(c.299+242C>T),
40327879(c.299+273C>T),
40328381(c.300-590G>C),
40328394(c.300-577C>T),
40328422(c.300-549T>C),
40328432(c.300-539C>G),
40328445(c.300-526T>C),
40328522(c.300-449T>C),
40328533(c.300-438A>T),
40328783(c.300-188G>A),
40329399(c.498+230G>A),
40329602(c.498+433A>T),
40329930(c.498+761T>G),
40329992(c.498+823A>C),
40330048(c.498+879T>C),
40330063(c.498+894C>T),
40330064(c.498+895T>C),
40330157(c.498+988T>G),
40330305(c.498+1136A>C),
40330394(c.498+1225C>G),
40330402(c.498+1233C>T),
40330429(c.498+1260T>G),
40330491(c.498+1322C>A),
40330542(c.498+1373C>T),
40330658(c.498+1489C>G),
40331354(c.498+2185T>G),
40331655(c.498+2486A>G),
40332056(c.498+2887T>G),
40332064(c.498+2895G>T),
40332171(c.498+3002C>T),
40332226(c.498+3057T>A),
40332233(c.498+3064A>T),
40332234(c.498+3065A>T),
40332346(c.498+3177A>C),
40333272(c.498+4103A>G),
40333513(c.498+4344T>C),
40333543(c.498+4374T>C),
40333546(c.498+4377G>T),
40333550(c.498+4381G>A),
40333575(c.498+4406A>C),
40333598(c.498+4429G>T),
40333896(c.498+4727T>C),
40333899(c.498+4730T>C),
40334292(c.498+5123T>G),
40334293(c.498+5124T>C),
40335102(c.498+5933T>C),
40335127(c.498+5958T>C),
40335463(c.498+6294T>G),
40335763(c.498+6594C>T),
40335830(c.498+6661C>T),
40335850(c.498+6681A>G),
40335867(c.498+6698G>C),
40337171(c.499-5857G>C),
40337441(c.499-5587T>C),
40337442(c.499-5586G>A),
40337483(c.499-5545T>C),
40337484(c.499-5544G>A),
40339649(c.499-3379C>T),
40339650(c.499-3378T>C),
40339737(c.499-3291G>A),
40339759(c.499-3269C>A),
40339760(c.499-3268T>C),
40339827(c.499-3201A>C),
40339836(c.499-3192G>A),
40340422(c.499-2606G>T),
40340719(c.499-2309T>C),
40340779(c.499-2249A>G),
40340793(c.499-2235T>G),
40340863(c.499-2165G>A),
40341254(c.499-1774T>C),
40341353(c.499-1675C>T),
40341675(c.499-1353C>A),
40341683(c.499-1345G>T),
40342088(c.499-940A>G),
40342273(c.499-755G>A),
40342699(c.499-329C>T),
40342729(c.499-299C>A),
40342743(c.499-285C>G),
40342789(c.499-239G>C),
40342949(c.499-79C>T),
40342993(c.499-35T>C),
40343004(c.499-24C>T),
40343259(c.661+69C>T),
40343267(c.661+77A>G),
40343269(c.661+79T>C),
40343886(c.661+696A>C),
40345114(c.662-692T>C),
40345225(c.662-581G>A),
40346453(c.733+576T>C),
40346497(c.733+620A>C),
40346558(c.733+681A>C),
40346726(c.733+849C>T),
40346755(c.733+878T>C),
40346764(c.733+887G>A),
40346765(c.733+888C>T),
40346777(c.733+900G>A),
40346844(c.733+967C>T),
40346926(c.733+1049C>T),
40347232(c.733+1355C>T),
40347508(c.733+1631A>G),
40347515(c.733+1638C>T),
40347559(c.733+1682C>G),
40348238(c.733+2361A>C),
40349004(c.734-1932G>A),
40349033(c.734-1903A>G),
40349162(c.734-1774A>G),
40349470(c.734-1466T>C),
40349600(c.734-1336A>G),
40349794(c.734-1142A>G),
40349849(c.734-1087C>T),
40350166(c.734-770T>C),
40350279(c.734-657C>T),
40350610(c.734-326G>A),
40351085(c.863+20C>T),
40351275(c.863+210G>A),
40351286(c.863+221C>T),
40351964(c.1000+66C>T),
40351995(c.1000+97C>T),
40352044(c.1000+146C>T),
40352090(c.1000+192C>G),
40352340(c.1000+442T>C),
40352374(c.1000+476C>T),
40352421(c.1000+523C>T),
40352431(c.1000+533C>T),
40352443(c.1000+545T>G),
40352455(c.1000+557G>A),
40352579(c.1000+681A>C),
40352600(c.1000+702C>T),
40352614(c.1000+716C>T),
40352623(c.1000+725C>T),
40352624(c.1000+726T>C),
40352823(c.1000+925G>A),
40353412(c.1000+1514A>T),
40353530(c.1000+1632G>A),
40353609(c.1000+1711T>C),
40353740(c.1000+1842C>G),
40353748(c.1000+1850C>G),
40353975(c.1000+2077C>T),
40354095(c.1000+2197G>A),
40354100(c.1000+2202T>C),
40354147(c.1000+2249T>G),
40354331(c.1000+2433A>G),
40354360(c.1001-2459A>G),
40354485(c.1001-2334A>G),
40354509(c.1001-2310G>A),
40354519(c.1001-2300A>T),
40355247(c.1001-1572G>A),
40355551(c.1001-1268C>G),
40355590(c.1001-1229T>C),
40355989(c.1001-830C>T),
40356100(c.1001-719T>C),
40356204(c.1001-615C>T),
40356235(c.1001-584G>A),
40356415(c.1001-404A>G),
40356454(c.1001-365C>T),
40356460(c.1001-359T>G),
40356461(c.1001-358C>T),
40356489(c.1001-330T>C),
40356811(c.1001-8G>A),
40357046(c.1144+84T>C),
40357143(c.1144+181T>C),
40357543(c.1144+581A>G),
40357677(c.1144+715G>A),
40357808(c.1144+846T>A),
40357813(c.1144+851T>G),
40357965(c.1144+1003C>T),
40358449(c.1144+1487A>G),
40358665(c.1144+1703C>T),
40358883(c.1144+1921A>G),
40358936(c.1144+1974G>T),
40359062(c.1144+2100G>A),
40359176(c.1144+2214T>G),
40359186(c.1144+2224G>A),
40359388(c.1144+2426A>G),
40359575(c.1144+2613A>G),
40359646(c.1144+2684C>G),
40359675(c.1144+2713A>G),
40359681(c.1144+2719T>C),
40359706(c.1144+2744C>G),
40359710(c.1144+2748C>T),
40359723(c.1144+2761C>T),
40359763(c.1144+2801G>A),
40359851(c.1144+2889T>C),
40359891(c.1144+2929A>G),
40360212(c.1145-2980G>A),
40360246(c.1145-2946G>A),
40360473(c.1145-2719C>A),
40360475(c.1145-2717G>A),
40361050(c.1145-2142A>G),
40361053(c.1145-2139T>C),
40361059(c.1145-2133G>A),
40361063(c.1145-2129T>G),
40361224(c.1145-1968A>G),
40361245(c.1145-1947C>G),
40361260(c.1145-1932A>C),
40361312(c.1145-1880T>C),
40361424(c.1145-1768C>T),
40362488(c.1145-704T>C),
40362672(c.1145-520A>G),
40362852(c.1145-340A>G),
40362942(c.1145-250T>G),
40362990(c.1145-202T>G),
40363026(c.1145-166T>C),
40363367(c.1306+14A>G),
40363398(c.1306+45A>C),
40363403(c.1306+50A>G),
40363597(c.1306+244T>A),
40363727(c.1306+374A>C),
40364479(c.1307-548G>A),
40364675(c.1307-352T>C),
40364940(c.1307-87C>T),
+1kb
40367612(c.*2167A>G),
40367621(c.*2176G>A),
40367629(c.*2184G>A),
40367646(c.*2201T>C),
40367677(c.*2232T>C),
40367704(c.*2259A>G),
40367770(c.*2325T>C),
40367799(c.*2354A>G),
40368098(c.*2653A>G),
40368103(c.*2658G>C),
40368180(c.*2735G>T),
40368238(c.*2793G>C),
40368274(c.*2829A>G),
40368280(c.*2835G>T),
40368299(c.*2854T>C),
40368330(c.*2885C>T),
40368339(c.*2894A>G),
40368361(c.*2916C>G),
40368458(c.*3013T>C),
40368607(c.*3162A>G),
40368622(c.*3177T>C),
40368691(c.*3246A>G),
40368807(c.*3362A>G),
40368810(c.*3365T>C),
40368831(c.*3386A>T),
40368862(c.*3417G>A),
40368888(c.*3443G>T),
40368928(c.*3483G>A),
40368936(c.*3491C>T),
40368970(c.*3525A>G),
40369033(c.*3588T>C),
40369044(c.*3599C>T),
40369146(c.*3701T>A),
40369203(c.*3758T>C),
40369243(c.*3798G>A),
40369299(c.*3854G>A),
40369314(c.*3869G>C),
40369351(c.*3906A>G),
40369374(c.*3929G>C),
40369412(c.*3967T>G),
40369573(c.*4128A>G),
40369610(c.*4165C>T),
40369740(c.*4295G>A),
40369778(c.*4333T>C),
40369846(c.*4401G>A),
40369853(c.*4408A>G),
40369899(c.*4454A>G),
40369939(c.*4494A>G),
40369965(c.*4520A>C),
40370050(c.*4605A>G),
40370053(c.*4608C>T),
40370056(c.*4611T>C),
40370057(c.*4612C>T),
40370072(c.*4627C>A),
40370127(c.*4682G>C),
40370146(c.*4701T>C),
40370234(c.*4789T>G),
40370292(c.*4847G>A),
40370347(c.*4902C>T),
40370474(c.*5029T>C),
40370567(c.*5122G>A),
40370602(c.*5157T>C),
40370714(c.*5269C>A),
40370717(c.*5272A>G),
40370725(c.*5280G>A),
40370758(c.*5313G>T),
40370769(c.*5324T>C),
40370848(c.*5403T>C),
40371050(c.*5605C>T),
40371077(c.*5632A>G),
40371109(c.*5664T>G),
40371156(c.*5711T>G),
40371177(c.*5732C>T),
40371411(c.*5966A>G),
40371483(c.*6038G>C),
40371484(c.*6039C>T),
40371537(c.*6092T>A),
40371556(c.*6111G>T),
40372528(c.*7083C>A),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
40331852 (c.498+2685_498+2686insTTT),
40332077 (c.498+2916dupT),
40336135 (c.499-6891_499-6890dupTT),
40341701 (c.499-1325dupG),
40342566 (c.499-452_499-449dupCTCT),
40343309 (c.661+118_661+119dupCC),
40345574 (c.662-221_662-220dupTG),
40349335 (c.734-1601_734-1600insTA),
40350496 (c.734-439_734-438dupCT),
40351667 (c.864-81_864-78dupAACA),
40352866 (c.1000+972dupA),
40353169 (c.1000+1285_1000+1286dupGT),
40356228 (c.1001-587dupC),
40363509 (c.1306+170_1306+172dupCAA),
40364814 (c.1307-207dupA),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
40325482 (c.-7+739_-7+742delACTG),
40328069 (c.299+465delA),
40328266 (c.299+680_300-682delGTCT),
40329416 (c.498+254_498+256delTGT),
40329422 (c.498+254_498+256delTGT),
40331586 (c.498+2424delT),
40336338 (c.499-6683delT),
40337720 (c.499-5301delT),
40340592 (c.499-2435_499-2432delAGAA),
40341316 (c.499-1708_499-1702delTATAACA),
40342974 (c.499-48_499-47delGA),
40343515 (c.661+327_661+329delTCT),
40348153 (c.733+2310_733+2311delCA),
40349819 (c.734-1110_734-1105delGTATGT),
40353543 (c.1000+1653delA),
40353950 (c.1000+2055_1000+2058delGTTT),
40354271 (c.1000+2377_1000+2383delTGGCCAG),
40354991 (c.1001-1819_1001-1818delTT),
40357813 (c.1144+852delT),
40357871 (c.1144+913delT),
40357874 (c.1144+913delT),
40358149 (c.1144+1202_1144+1205delAAAA),
40359973 (c.1144+3013_1144+3014delCA),
40360466 (c.1145-2724delG),
40361699 (c.1145-1482delA),
40362057 (c.1145-1132_1145-1126delACAAAAA),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 2 |
| non-synonymous num | 2 |
| synonymous substitutions |
40327448 (p.Pro47Pro),
40363319 (p.Leu424Leu),
|
| non-synonymous substitutions |
40326534 (p.Leu14Val),
40327446 (p.Pro47Ser),
|
B6 transcript
(ENSMUST00000194296)
|
MGVTSLLFCGVFFLLLLFVAADTCEDIFMHNVIISEGQPFPFNCTYPPETNGAVNLTWYK
TPSKSPVSNNRHLRVHQDQTWILFLPLTLEDSGIYQCVIRNAHNCYQIAVNLTVLKNHWC
DSSMEGSPVNSPDVYQQILPIGKSGSLNCHLYFPESCALDSIKWYKGCEEIKAGKKYSPS
GAKLLVNNVAVEDGGSYACSARLTHLGRHFTIRNYIAVNTKEVEYGRRIPNITYPKNNSI
EVPLGSTLIVNCNITDTKENTNLRCWRVNNTLVDDYYKDSKRIQEGIETNVSLRDQIRYT
VNITFLKVKMEDYGRPFTCHAGVSAAYIILIYPVPDFRAYLLGGLMAFLLLVVSVLFIYN
SFKIDIMLWYRSAFHTAQAPDDEKLYDAYVLYPKYPRGSQGHDVDTLVLKILPEVLEKQC
GYKLFIFGRDEFPGQAVASVIDENIKLCRRLMVFVAPESSSFGFLKNLSEEQIAVYNALI
QHGMKVILIELEKVKDYSTMPESIQYIRQKHGAIQWDGDFTEQSQCAKTKFWKKVRYHMP
PRRYPASSPVQLLGHIPCNCKAGKCNAATGLITP*
|
|
MSMv4 transcript
|
MGVTSLLFCGVFFVLLLFVAADTCEDIFMHNVIISEGQPFPFNCTYSPETNGAVNLTWYK
TPSKSPVSNNRHLRVHQDQTWILFLPLTLEDSGIYQCVIRNAHNCYQIAVNLTVLKNHWC
DSSMEGSPVNSPDVYQQILPIGKSGSLNCHLYFPESCALDSIKWYKGCEEIKAGKKYSPS
GAKLLVNNVAVEDGGSYACSARLTHLGRHFTIRNYIAVNTKEVEYGRRIPNITYPKNNSI
EVPLGSTLIVNCNITDTKENTNLRCWRVNNTLVDDYYKDSKRIQEGIETNVSLRDQIRYT
VNITFLKVKMEDYGRPFTCHAGVSAAYIILIYPVPDFRAYLLGGLMAFLLLVVSVLFIYN
SFKIDIMLWYRSAFHTAQAPDDEKLYDAYVLYPKYPRGSQGHDVDTLVLKILPEVLEKQC
GYKLFIFGRDEFPGQAVASVIDENIKLCRRLMVFVAPESSSFGFLKNLSEEQIAVYNALI
QHGMKVILIELEKVKDYSTMPESIQYIRQKHGAIQWDGDFTEQSQCAKTKFWKKVRYHMP
PRRYPASSPVQLLGHIPCNCKAGKCNAATGLITP*
|
| homology | 99.65 (575 / 575) |
|