| Reports |
| substitution |
| cSNPs | 2 |
| Insertion | 13 |
| Deletion | 15 |
| SNPs |
+1kb
39577408(c.-12099C>T),
39577517(c.-12208C>T),
39577565(c.-12256G>T),
39577907(c.-12598C>T),
39577942(c.-12633T>C),
39578727(c.-13418T>G),
39578728(c.-13419C>A),
39578848(c.-13539A>G),
39579049(c.-13740A>C),
39579055(c.-13746A>G),
39579183(c.-13874A>G),
39579242(c.-13933G>A),
39579276(c.-13967C>G),
39579289(c.-13980C>T),
39579298(c.-13989G>A),
39579315(c.-14006A>C),
39579334(c.-14025C>T),
39579402(c.-14093C>T),
39579406(c.-14097C>T),
39579444(c.-14135T>C),
39579490(c.-14181T>C),
39579632(c.-14323T>C),
39579724(c.-14415A>G),
39580344(c.-15035C>A),
39580837(c.-15528A>G),
39580876(c.-15567A>G),
39580908(c.-15599T>G),
39581048(c.-15739A>G),
39581062(c.-15753A>G),
39581102(c.-15793T>C),
39581942(c.-16633C>T),
39581947(c.-16638A>G),
39582231(c.-16922C>A),
39582316(c.-17007C>T),
5'UTR
CDS
3'UTR
INTRON
39552660(c.*121-145T>C),
39552797(c.*121-282C>T),
39552847(c.*121-332G>T),
39552920(c.*121-405T>C),
39553046(c.*121-531G>A),
39553529(c.*121-1014A>T),
39553676(c.*121-1161C>T),
39553775(c.*121-1260G>A),
39554936(c.*120+542A>G),
39555403(c.*120+75T>C),
39556048(c.381-378T>A),
39556064(c.381-394A>G),
39556360(c.381-690A>G),
39556567(c.381-897C>A),
39557379(c.381-1709C>T),
39558032(c.381-2362G>T),
39558065(c.381-2395C>T),
39558538(c.380+2155A>G),
39558826(c.380+1867G>T),
39559627(c.380+1066A>T),
39559811(c.380+882C>T),
39559851(c.380+842A>T),
39560472(c.380+221C>T),
39561036(c.298-261A>C),
39561597(c.298-822T>C),
39562044(c.298-1269C>T),
39562653(c.297+1395A>C),
39562812(c.297+1236T>G),
39562855(c.297+1193G>A),
39562958(c.297+1090A>G),
39562979(c.297+1069A>G),
39562982(c.297+1066C>T),
39562987(c.297+1061A>G),
39563195(c.297+853A>T),
39563206(c.297+842T>A),
39563439(c.297+609C>A),
39563513(c.297+535T>C),
39563817(c.297+231T>C),
39563874(c.297+174C>T),
39563889(c.297+159T>C),
39563937(c.297+111T>C),
39564026(c.297+22T>G),
39564124(c.229-8T>C),
39564131(c.229-15T>G),
39566366(c.-23-1034A>T),
39566796(c.-23-1464G>A),
39566938(c.-23-1606T>A),
39567824(c.-23-2492G>T),
39568304(c.-23-2972T>G),
39568328(c.-23-2996A>C),
39568367(c.-23-3035C>G),
39568587(c.-23-3255T>C),
39568751(c.-23-3419A>T),
39569581(c.-23-4249A>G),
39570056(c.-23-4724G>C),
39570091(c.-23-4759G>T),
39570092(c.-23-4760G>C),
39570277(c.-23-4945C>G),
39570667(c.-23-5335T>G),
39570668(c.-23-5336A>T),
39570768(c.-23-5436T>C),
39570822(c.-23-5490C>T),
39571428(c.-24+5904G>A),
39572270(c.-24+5062G>C),
39572395(c.-24+4937G>A),
39572587(c.-24+4745A>G),
39572804(c.-24+4528C>T),
39572879(c.-24+4453T>C),
39572889(c.-24+4443A>G),
39573080(c.-24+4252G>T),
39573210(c.-24+4122T>C),
39574077(c.-24+3255G>T),
39575356(c.-24+1976G>A),
39575488(c.-24+1844C>T),
39575753(c.-24+1579T>C),
39576065(c.-24+1267T>A),
39576497(c.-24+835T>C),
39576564(c.-24+768A>G),
39576984(c.-24+348C>G),
39577080(c.-24+252A>C),
39577221(c.-24+111G>A),
39577326(c.-24+6T>C),
-1kb
39547471(c.*8127C>T),
39547499(c.*8099C>T),
39548284(c.*7314C>T),
39548529(c.*7069T>C),
39548627(c.*6971T>G),
39549401(c.*6197G>T),
39549775(c.*5823G>A),
39549908(c.*5690T>C),
39550018(c.*5580C>T),
39550021(c.*5577C>T),
39550646(c.*4952G>A),
39550706(c.*4892G>A),
39550769(c.*4829C>T),
39550775(c.*4823C>G),
39550844(c.*4754C>A),
39550983(c.*4615C>T),
39551161(c.*4437G>T),
39551545(c.*4053G>C),
39551956(c.*3642A>G),
39552026(c.*3572T>C),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
39553640 (c.*121-1129_*121-1126dupCATA),
39559383 (c.380+1309dupT),
39559634 (c.380+1057_380+1058dupGG),
39559913 (c.380+779_380+780insT),
39564478 (c.229-364_229-363dupCA),
39567232 (c.-23-1902_-23-1901dupTT),
39570353 (c.-23-5030_-23-5022dupCACACACAC),
39571162 (c.-23-5831dupT),
39571478 (c.-24+5853dupG),
39576342 (c.-24+989_-24+990insTTT),
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 2 |
| non-synonymous num | 0 |
| synonymous substitutions |
39564087 (p.Ile86Ile),
39565138 (p.Leu58Leu),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000195136)
|
MISYPKGREIFDLVQKGIPVKMRIEIGTRHMQEFISGQSVVFVAIAFITMMIISLAWLIF
YYIQRFLYTGSQFGSQNHRKETKKVIGQLPLHTVKHGEKGIDVDAENCAVCIENFKVKDV
IRILPCKGTLRIRRSYPPQKLPQEGFLLGI*
|
|
MSMv4 transcript
|
MISYPKGREIFDLVQKGIPVKMRIEIGTRHMQEFISGQSVVFVAIAFITMMIISLAWLIF
YYIQRFLYTGSQFGSQNHRKETKKVIGQLPLHTVKHGEKGIDVDAENCAVCIENFKVKDV
IRILPCKGTLRIRRSYPPQKLPQEGFLLGI*
|
| homology | 100.00 (151 / 151) |
|