| Reports |
|---|
| substitution |
|---|
| cSNPs | 1 |
|---|
| Insertion | 23 |
|---|
| Deletion | 21 |
|---|
| SNPs |
+1kb
127011866(c.-64G>A),
127011961(c.-159G>A),
127012045(c.-243A>C),
127012055(c.-253A>G),
127012101(c.-299C>G),
127012108(c.-306G>A),
127012145(c.-343C>A),
127012149(c.-347A>G),
127012308(c.-506C>T),
127012402(c.-600T>C),
127012483(c.-681T>C),
127012519(c.-717G>A),
127012607(c.-805T>C),
127012695(c.-893A>G),
127012724(c.-922C>T),
127012733(c.-931A>C),
127012838(c.-1036G>A),
127012892(c.-1090C>T),
127012903(c.-1101A>G),
127013023(c.-1221C>G),
127013198(c.-1396T>A),
127013199(c.-1397T>G),
127013337(c.-1535C>T),
127013346(c.-1544G>A),
127013348(c.-1546T>G),
127013353(c.-1551T>C),
127013467(c.-1665T>G),
127013470(c.-1668A>G),
127013485(c.-1683G>T),
127013486(c.-1684A>C),
127013515(c.-1713T>C),
127013596(c.-1794C>G),
127013666(c.-1864T>C),
127013762(c.-1960G>A),
127014085(c.-2283G>T),
127014432(c.-2630A>C),
127014433(c.-2631G>T),
127014770(c.-2968A>C),
127014860(c.-3058A>G),
127014903(c.-3101G>A),
127015111(c.-3309G>A),
127015160(c.-3358C>T),
127015168(c.-3366G>A),
127015173(c.-3371C>T),
127015438(c.-3636G>A),
127015476(c.-3674A>G),
127015511(c.-3709A>G),
127015950(c.-4148A>C),
127015968(c.-4166T>C),
127016115(c.-4313G>A),
127016322(c.-4520T>A),
127016592(c.-4790G>A),
127016732(c.-4930C>G),
127016835(c.-5033A>G),
- 5'UTR
- CDS
- 3'UTR
- INTRON
126998741(c.349-145A>G),
126998887(c.349-291G>T),
126999028(c.349-432G>A),
126999099(c.349-503T>C),
126999131(c.349-535A>T),
126999138(c.349-542T>C),
126999185(c.349-589C>A),
126999202(c.349-606C>A),
126999277(c.349-681A>G),
126999315(c.349-719C>T),
126999330(c.349-734T>G),
126999433(c.349-837T>G),
126999539(c.349-943T>G),
126999728(c.349-1132G>A),
126999729(c.349-1133T>C),
126999745(c.349-1149A>G),
127000640(c.348+840A>G),
127000641(c.348+839C>T),
127000661(c.348+819T>C),
127000711(c.348+769A>G),
127000809(c.348+671C>T),
127000824(c.348+656T>C),
127001012(c.348+468G>A),
127001097(c.348+383G>T),
127001105(c.348+375G>A),
127001171(c.348+309C>T),
127001194(c.348+286A>G),
127001196(c.348+284C>A),
127001265(c.348+215T>C),
127001287(c.348+193T>C),
127001293(c.348+187T>G),
127001393(c.348+87T>C),
127001751(c.152+58G>A),
127001773(c.152+36A>G),
127001778(c.152+31T>C),
127001782(c.152+27C>T),
127001987(c.3-29C>G),
127002231(c.3-273G>A),
127002235(c.3-277G>A),
127002237(c.3-279G>A),
127002239(c.3-281G>A),
127002241(c.3-283G>A),
127002321(c.3-363C>T),
127002843(c.3-885G>A),
127002847(c.3-889G>C),
127003064(c.3-1106C>T),
127003821(c.3-1863G>T),
127004306(c.3-2348C>A),
127004631(c.3-2673A>G),
127004679(c.3-2721G>A),
127005006(c.3-3048T>C),
127005010(c.3-3052T>G),
127005060(c.3-3102A>G),
127005112(c.3-3154G>A),
127005113(c.3-3155T>C),
127005223(c.3-3265C>T),
127005267(c.3-3309A>G),
127005321(c.3-3363T>C),
127005377(c.3-3419T>C),
127005452(c.3-3494A>C),
127005796(c.3-3838T>G),
127006211(c.3-4253T>G),
127007160(c.2+4641T>C),
127007300(c.2+4501C>A),
127007773(c.2+4028C>T),
127008167(c.2+3634G>A),
127008207(c.2+3594A>G),
127008655(c.2+3146T>C),
127008733(c.2+3068T>G),
127009123(c.2+2678G>C),
127009161(c.2+2640T>C),
127009192(c.2+2609C>T),
127009662(c.2+2139T>C),
127009678(c.2+2123A>G),
127009702(c.2+2099T>A),
127009793(c.2+2008A>G),
127010025(c.2+1776C>T),
127010126(c.2+1675A>G),
127010243(c.2+1558T>A),
127010244(c.2+1557C>T),
127010376(c.2+1425C>T),
127010535(c.2+1266C>T),
127010575(c.2+1226A>G),
127011032(c.2+769T>C),
127011124(c.2+677C>T),
127011161(c.2+640A>T),
127011405(c.2+396T>G),
127011407(c.2+394A>G),
127011556(c.2+245A>G),
127011570(c.2+231T>C),
127011707(c.2+94T>C),
127011715(c.2+86C>G),
127011787(c.2+14T>A),
127011791(c.2+10C>T),
-
-1kb
126993586(c.*4956A>G),
126993703(c.*4839G>A),
126993917(c.*4625A>C),
126993969(c.*4573C>A),
126994018(c.*4524G>A),
126994186(c.*4356T>C),
126994317(c.*4225G>C),
126994328(c.*4214A>C),
126994339(c.*4203C>T),
126994368(c.*4174C>T),
126994553(c.*3989G>A),
126994557(c.*3985G>A),
126994774(c.*3768G>A),
126994792(c.*3750T>C),
126995111(c.*3431G>T),
126995129(c.*3413G>T),
126995274(c.*3268A>G),
126995316(c.*3226A>G),
126995520(c.*3022T>G),
126995521(c.*3021A>T),
126995993(c.*2549A>G),
126996164(c.*2378T>G),
126996437(c.*2105A>G),
126996571(c.*1971A>G),
126996587(c.*1955C>T),
126996613(c.*1929T>G),
126996627(c.*1915A>G),
126996663(c.*1879C>T),
126996681(c.*1861A>G),
126996682(c.*1860T>A),
126996720(c.*1822T>G),
126997025(c.*1517A>G),
126997344(c.*1198T>A),
126998080(c.*462A>G),
126998470(c.*72G>A),
|
|---|
| Insertions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
127001233 (c.348+246_348+247insG),
127004109 (c.3-2155_3-2152dupAACA),
127005144 (c.3-3189_3-3187dupAAA),
127005442 (c.3-3485dupC),
127005450 (c.3-3493dupC),
127006242 (c.3-4286_3-4285dupAC),
127007001 (c.2+4799_2+4800insAAC),
127007015 (c.2+4785_2+4786insAC),
127010780 (c.2+1020_2+1021insAAAGAA),
127010827 (c.2+973_2+974insAC),
127010947 (c.2+853_2+854insCA),
127011161 (c.2+639_2+640insTT),
127011496 (c.2+304_2+305insTAATAG),
127011698 (c.2+102_2+103insAG),
-
-1kb
|
|---|
| Deletions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
127000888 (c.348+591delT),
127001043 (c.348+436delC),
127002886 (c.3-929delT),
127004770 (c.3-2815_3-2813delTCT),
127005380 (c.3-3423delT),
127005610 (c.3-3656_3-3653delAAAA),
127005808 (c.3-3852_3-3851delTA),
127006737 (c.3-4781_3-4780delAA),
127006992 (c.2+4804_2+4808delAAAAA),
127008058 (c.2+3742delA),
127010390 (c.2+1410delT),
127011003 (c.2+797delT),
127011006 (c.2+793_2+794delGT),
127011765 (c.2+30_2+35delAGGCAG),
-
-1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 1 |
|---|
| non-synonymous num | 0 |
|---|
| synonymous substitutions |
127001856 (p.Ser35Ser),
|
|---|
| non-synonymous substitutions |
|
|---|
B6 transcript
(ENSMUST00000133172)
|
MLGRGLGFTMATEEAIIRIPPYHYIHVLDQNSNVSRVEVGPKTYIRQDNERVLFAPVRMV
TVPPRHYCIVANPVSRDAQSSVLFDVTGQVRLRHADQEIRLAQDPFPLYPGELLEKDITP
LQVVLPNTALHLKA
|
|
MSMv4 transcript
|
MLGRGLGFTMATEEAIIRIPPYHYIHVLDQNSNVSRVEVGPKTYIRQDNERVLFAPVRMV
TVPPRHYCIVANPVSRDAQSSVLFDVTGQVRLRHADQEIRLAQDPFPLYPGELLEKDITP
LQVVLPNTALHLKA
|
| homology | 100.00 (134 / 134) |
|---|
|
