| Reports |
|---|
| substitution |
|---|
| cSNPs | 0 |
|---|
| Insertion | 31 |
|---|
| Deletion | 22 |
|---|
| SNPs |
-1kb
55100363(c.-4981T>C),
55100381(c.-4963G>C),
55100468(c.-4876G>A),
55100489(c.-4855A>C),
55100544(c.-4800A>G),
55100675(c.-4669T>G),
55100676(c.-4668T>A),
55100979(c.-4365G>A),
55100998(c.-4346A>G),
55101640(c.-3704A>G),
55101731(c.-3613T>C),
55101733(c.-3611C>T),
55101803(c.-3541C>T),
55101866(c.-3478G>A),
55101934(c.-3410A>G),
55101936(c.-3408T>C),
55101993(c.-3351G>T),
55102008(c.-3336G>A),
55102494(c.-2850A>G),
55102629(c.-2715G>T),
55102961(c.-2383T>C),
55102963(c.-2381C>A),
55103401(c.-1943A>G),
55103626(c.-1718T>C),
55104001(c.-1343A>G),
55104295(c.-1049C>A),
55104370(c.-974T>C),
55104372(c.-972C>A),
55104943(c.-401T>G),
55105113(c.-231A>C),
- 5'UTR
- CDS
- 3'UTR
- INTRON
55105714(c.175+196C>A),
55106166(c.175+648G>A),
55106378(c.175+860G>A),
55106611(c.175+1093A>C),
55106778(c.175+1260T>C),
55106812(c.175+1294C>T),
55107018(c.175+1500A>G),
55107640(c.175+2122C>T),
55107860(c.175+2342A>G),
55107881(c.175+2363T>C),
55108139(c.175+2621A>G),
55108785(c.175+3267T>C),
55108851(c.175+3333T>G),
55109083(c.175+3565G>T),
55109220(c.175+3702G>T),
55109353(c.176-3683C>A),
55109522(c.176-3514C>T),
55109825(c.176-3211A>T),
55111032(c.176-2004G>A),
55111065(c.176-1971G>A),
55111472(c.176-1564A>G),
55111560(c.176-1476G>A),
55111760(c.176-1276A>G),
55111940(c.176-1096C>T),
55112046(c.176-990T>C),
55113206(c.279+67G>A),
55113409(c.280-269C>T),
55113420(c.280-258G>T),
55113467(c.280-211C>A),
55113492(c.280-186T>C),
55114155(c.372+385T>C),
55114215(c.372+445G>A),
55114275(c.372+505A>G),
55114408(c.372+638A>G),
55114496(c.372+726A>G),
55114504(c.372+734G>A),
55114734(c.373-746A>G),
55115241(c.373-239C>T),
55115373(c.373-107G>A),
55115379(c.373-101G>A),
55115666(c.517+42T>C),
55116401(c.517+777C>T),
55116437(c.517+813C>T),
55116461(c.517+837T>C),
55116747(c.517+1123G>T),
55117235(c.517+1611A>G),
55117242(c.517+1618C>T),
55118119(c.517+2495T>G),
55118140(c.517+2516T>C),
55118233(c.517+2609A>G),
55118425(c.517+2801A>C),
55118478(c.517+2854A>G),
55118496(c.517+2872T>C),
55118549(c.517+2925G>A),
55118958(c.517+3334A>G),
55118965(c.517+3341A>G),
55118978(c.518-3352T>A),
55119194(c.518-3136A>G),
55119829(c.518-2501C>T),
55119847(c.518-2483A>G),
55120061(c.518-2269G>T),
55121939(c.518-391T>C),
55122156(c.518-174T>C),
55122956(c.703+441C>T),
55123207(c.703+692A>G),
55123614(c.703+1099A>G),
55123758(c.703+1243C>T),
55123760(c.703+1245A>G),
55123775(c.703+1260C>T),
55124003(c.703+1488A>G),
55124318(c.703+1803C>T),
55124655(c.703+2140T>C),
55125223(c.703+2708T>C),
55125425(c.703+2910G>T),
55126365(c.703+3850A>C),
55126521(c.703+4006G>A),
55126615(c.704-3919T>C),
55126847(c.704-3687G>A),
55127875(c.704-2659G>A),
55128445(c.704-2089C>T),
55128878(c.704-1656A>G),
55128888(c.704-1646C>T),
55129374(c.704-1160A>G),
55129413(c.704-1121A>G),
55129748(c.704-786C>G),
55129795(c.704-739C>T),
55131617(c.798-690A>T),
55131629(c.798-678G>A),
55132172(c.798-135C>T),
-
+1kb
55134963(c.*2569C>T),
55135158(c.*2764T>C),
55135356(c.*2962C>G),
55135357(c.*2963A>G),
55135667(c.*3273T>G),
55135737(c.*3343C>T),
55136267(c.*3873A>G),
55136326(c.*3932A>T),
55136343(c.*3949C>T),
55136400(c.*4006A>G),
55136485(c.*4091T>C),
55136563(c.*4169A>T),
55136870(c.*4476C>T),
55136876(c.*4482G>C),
55136918(c.*4524A>G),
55137147(c.*4753A>G),
55137197(c.*4803A>G),
55137340(c.*4946A>G),
55137487(c.*5093C>T),
55137696(c.*5302C>T),
55137801(c.*5407A>T),
55138341(c.*5947C>T),
55138444(c.*6050A>G),
55139162(c.*6768C>T),
55139603(c.*7209C>T),
55139613(c.*7219T>A),
|
|---|
| Insertions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
55105723 (c.175+211dupC),
55108607 (c.175+3101dupT),
55110432 (c.176-2601_176-2600insTCTAA),
55117099 (c.517+1477_517+1479dupACA),
55119135 (c.518-3196_518-3195dupAC),
55119371 (c.518-2960_518-2959dupAA),
55120032 (c.518-2291_518-2287dupGTTTT),
55120911 (c.518-1416dupT),
55120914 (c.518-1416dupT),
55120926 (c.518-1402dupT),
55120929 (c.518-1401_518-1400insT),
55120936 (c.518-1393dupT),
55120939 (c.518-1390dupT),
55123009 (c.703+492_703+494dupAAA),
55123104 (c.703+590_703+591insTT),
55124170 (c.703+1662_703+1663dupAA),
55126635 (c.704-3888_704-3887dupAA),
55127778 (c.704-2756_704-2755insAC),
55128254 (c.704-2272_704-2271dupTT),
55130815 (c.797+188_797+189insTAGT),
55131141 (c.797+515dupG),
55131798 (c.798-509dupA),
55131802 (c.798-505dupA),
-
+1kb
|
|---|
| Deletions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
55106587 (c.175+1083_175+1084delTT),
55111217 (c.176-1818_176-1813delAGGAGA),
55112340 (c.176-685_176-684delAA),
55114534 (c.372+766_372+767delTA),
55116863 (c.517+1242delC),
55118825 (c.517+3203delA),
55119139 (c.518-3180_518-3178delATA),
55119149 (c.518-3180_518-3178delATA),
55120839 (c.518-1490_518-1485delAGAAGA),
55127611 (c.704-2922delT),
55127626 (c.704-2907_704-2902delCATATA),
55127799 (c.704-2734_704-2731delCTCT),
55129287 (c.704-1244_704-1243delCT),
55130031 (c.704-491_704-488delGAGA),
55131701 (c.798-595_798-592delGCGC),
55131711 (c.798-595_798-592delGCGC),
55131850 (c.798-456_798-455delCT),
-
+1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 0 |
|---|
| non-synonymous num | 0 |
|---|
| synonymous substitutions |
|
|---|
| non-synonymous substitutions |
|
|---|
B6 transcript
(ENSMUST00000021937)
|
MECPAPDATDAADPGEAGPYKGSEEPEGREPDGVRFDRERARRLWEAVSGAQPAGREEVE
HMIQKNQCLFTSTQCKVCCAMLISESQKLAHYQSKKHANKVKRYLAIHGMETIKGDVKRL
DSDQKSSRSKDKNHCCPICNMTFSSPAVAQSHYLGKTHAKSLKLKQQSTKGAALQQNREM
LDPDKFCSLCHSTFNDPAMAQQHYMGKRHRKQETKLKLMAHYGRLADPAVSDLPAGKGYP
CKTCKIVLNSIEQYQAHVSGFKHKNQSPKTLVTLGSQTPVQTQPTPKDSSTVQD*
|
|
MSMv4 transcript
|
MECPAPDATDAADPGEAGPYKGSEEPEGREPDGVRFDRERARRLWEAVSGAQPAGREEVE
HMIQKNQCLFTSTQCKVCCAMLISESQKLAHYQSKKHANKVKRYLAIHGMETIKGDVKRL
DSDQKSSRSKDKNHCCPICNMTFSSPAVAQSHYLGKTHAKSLKLKQQSTKGAALQQNREM
LDPDKFCSLCHSTFNDPAMAQQHYMGKRHRKQETKLKLMAHYGRLADPAVSDLPAGKGYP
CKTCKIVLNSIEQYQAHVSGFKHKNQSPKTLVTLGSQTPVQTQPTPKDSSTVQD*
|
| homology | 100.00 (295 / 295) |
|---|
|
