Reports |
substitution |
cSNPs | 2 |
Insertion | 36 |
Deletion | 39 |
SNPs |
+1kb
134644265(c.-260C>T),
134644451(c.-446A>C),
134644518(c.-513A>C),
134644563(c.-558A>T),
134644751(c.-746G>A),
134644884(c.-879G>C),
134644958(c.-953A>G),
134645043(c.-1038T>C),
134645097(c.-1092A>T),
134645371(c.-1366T>G),
134645373(c.-1368C>T),
134645466(c.-1461G>A),
134645503(c.-1498C>T),
134645506(c.-1501G>C),
134645509(c.-1504A>T),
134645542(c.-1537T>G),
134645578(c.-1573A>G),
134645679(c.-1674A>G),
134645765(c.-1760A>G),
134645832(c.-1827G>A),
134645864(c.-1859C>G),
134645865(c.-1860C>A),
134645903(c.-1898G>A),
134645955(c.-1950G>A),
134646071(c.-2066C>T),
134646158(c.-2153T>C),
134646174(c.-2169A>T),
134646178(c.-2173G>A),
134646189(c.-2184T>C),
134646198(c.-2193A>G),
134646387(c.-2382A>G),
134646440(c.-2435C>T),
134646807(c.-2802T>A),
134646845(c.-2840C>T),
134646874(c.-2869C>T),
134646903(c.-2898T>C),
134646913(c.-2908C>T),
134646979(c.-2974A>C),
134647038(c.-3033A>G),
134647309(c.-3304T>C),
134647336(c.-3331G>C),
134647413(c.-3408A>G),
134647518(c.-3513A>G),
134647632(c.-3627G>A),
134647661(c.-3656A>G),
134647734(c.-3729G>A),
134648001(c.-3996A>C),
134648012(c.-4007T>C),
134648032(c.-4027G>A),
134648033(c.-4028T>C),
134648191(c.-4186G>A),
134648362(c.-4357G>A),
134648396(c.-4391G>A),
134648411(c.-4406T>C),
134648413(c.-4408A>G),
134648439(c.-4434A>G),
134648493(c.-4488T>G),
134648494(c.-4489A>T),
134648683(c.-4678C>T),
134648892(c.-4887T>C),
134649055(c.-5050C>T),
134649057(c.-5052C>T),
134649072(c.-5067A>T),
5'UTR
CDS
3'UTR
134594375(c.*4150A>G),
134595453(c.*3072G>A),
134595572(c.*2953C>T),
134595586(c.*2939T>C),
134595681(c.*2844A>C),
134595694(c.*2831A>G),
134595824(c.*2701C>T),
134596170(c.*2355T>A),
134596716(c.*1809C>G),
134597016(c.*1509C>G),
134597027(c.*1498G>A),
134597193(c.*1332G>A),
134597553(c.*972G>A),
134597554(c.*971C>T),
134597706(c.*819C>T),
134597749(c.*776T>G),
134597847(c.*678G>A),
134597911(c.*614C>A),
134598002(c.*523G>A),
134598150(c.*375C>T),
134598152(c.*373G>T),
134598168(c.*357G>A),
134598173(c.*352A>G),
134598194(c.*331C>G),
134598204(c.*321G>A),
134598314(c.*211C>A),
134598383(c.*142C>T),
INTRON
134598981(c.668-116T>A),
134599180(c.668-315A>G),
134599194(c.668-329T>C),
134599298(c.668-433T>C),
134599416(c.668-551C>A),
134599478(c.667+532A>G),
134599874(c.667+136G>A),
134600408(c.604-335C>T),
134600462(c.604-389T>A),
134601366(c.502-377C>T),
134601693(c.502-704C>T),
134601932(c.502-943A>G),
134602409(c.502-1420A>G),
134604556(c.502-3567C>T),
134604679(c.502-3690T>G),
134604760(c.502-3771A>G),
134604857(c.502-3868T>C),
134604985(c.502-3996G>A),
134605030(c.502-4041C>T),
134605062(c.502-4073A>G),
134605265(c.501+4266G>A),
134605266(c.501+4265T>C),
134605660(c.501+3871A>G),
134606278(c.501+3253A>T),
134606305(c.501+3226A>T),
134606745(c.501+2786C>T),
134607096(c.501+2435T>A),
134607100(c.501+2431T>C),
134607343(c.501+2188G>T),
134607451(c.501+2080A>C),
134607452(c.501+2079A>C),
134607529(c.501+2002A>G),
134607635(c.501+1896G>A),
134607658(c.501+1873C>T),
134607793(c.501+1738T>C),
134608077(c.501+1454A>C),
134608148(c.501+1383T>A),
134608316(c.501+1215T>C),
134608368(c.501+1163T>A),
134608432(c.501+1099A>T),
134608455(c.501+1076T>G),
134608470(c.501+1061A>C),
134608528(c.501+1003A>G),
134608904(c.501+627A>G),
134609597(c.456-21A>G),
134609668(c.456-92A>G),
134609731(c.456-155A>G),
134609818(c.456-242A>G),
134610033(c.456-457A>G),
134610042(c.456-466T>C),
134610099(c.456-523T>C),
134610156(c.456-580C>A),
134610163(c.456-587A>G),
134610194(c.456-618T>C),
134610648(c.456-1072T>C),
134610820(c.456-1244A>G),
134610897(c.456-1321T>A),
134611110(c.456-1534C>A),
134611174(c.456-1598T>G),
134611319(c.456-1743T>G),
134611606(c.456-2030T>A),
134611841(c.456-2265G>A),
134611987(c.456-2411T>C),
134612848(c.456-3272C>A),
134613074(c.456-3498C>T),
134613075(c.456-3499A>G),
134613082(c.456-3506T>G),
134613142(c.456-3566C>T),
134620735(c.327-52C>T),
134621185(c.326+203G>A),
134621576(c.281-143G>A),
134621858(c.281-425T>C),
134621859(c.281-426T>C),
134621864(c.281-431A>G),
134621869(c.281-436T>C),
134621919(c.281-486C>A),
134621953(c.281-520C>G),
134622222(c.281-789C>T),
134622309(c.281-876T>C),
134622312(c.281-879A>C),
134622339(c.281-906A>C),
134622499(c.281-1066A>G),
134622564(c.281-1131A>G),
134622680(c.281-1247T>G),
134622870(c.281-1437C>G),
134623167(c.281-1734T>C),
134623472(c.281-2039A>G),
134623562(c.281-2129A>C),
134623630(c.281-2197T>C),
134623735(c.281-2302C>T),
134624108(c.281-2675G>A),
134624264(c.281-2831T>G),
134624417(c.281-2984A>G),
134624453(c.281-3020T>C),
134624496(c.281-3063C>T),
134624523(c.281-3090C>T),
134624731(c.281-3298T>G),
134625523(c.281-4090T>A),
134625682(c.281-4249C>G),
134625721(c.281-4288G>T),
134625813(c.281-4380T>C),
134625920(c.281-4487T>G),
134626022(c.281-4589G>T),
134626371(c.281-4938A>G),
134626441(c.281-5008G>A),
134626473(c.281-5040A>G),
134626756(c.281-5323G>T),
134626764(c.281-5331G>T),
134627159(c.281-5726A>C),
134627213(c.281-5780C>T),
134627453(c.281-6020T>C),
134627698(c.281-6265A>G),
134627786(c.281-6353T>C),
134628045(c.281-6612G>A),
134628685(c.281-7252G>A),
134628703(c.281-7270C>T),
134629160(c.281-7727T>C),
134629212(c.281-7779G>T),
134629354(c.281-7921T>C),
134629372(c.281-7939G>A),
134629626(c.281-8193A>G),
134629967(c.281-8534G>A),
134630208(c.281-8775T>A),
134630285(c.281-8852A>G),
134631237(c.280+8485T>C),
134631399(c.280+8323C>A),
134631455(c.280+8267G>A),
134631517(c.280+8205A>C),
134631599(c.280+8123A>G),
134631613(c.280+8109G>C),
134631862(c.280+7860T>C),
134632167(c.280+7555T>C),
134632268(c.280+7454C>A),
134632683(c.280+7039C>T),
134632833(c.280+6889C>T),
134633313(c.280+6409G>T),
134633621(c.280+6101T>C),
134633678(c.280+6044A>T),
134633722(c.280+6000A>G),
134633828(c.280+5894T>C),
134633847(c.280+5875T>A),
134634878(c.280+4844A>T),
134635094(c.280+4628G>T),
134636324(c.280+3398T>C),
134636505(c.280+3217C>T),
134636780(c.280+2942T>C),
134636784(c.280+2938T>C),
134636790(c.280+2932C>T),
134637321(c.280+2401G>A),
134637582(c.280+2140T>G),
134637632(c.280+2090G>A),
134637736(c.280+1986A>G),
134637994(c.280+1728C>T),
134638085(c.280+1637G>A),
134638258(c.280+1464A>T),
134638638(c.280+1084C>T),
134638682(c.280+1040T>A),
134638857(c.280+865A>T),
134639128(c.280+594C>T),
134639300(c.280+422G>A),
134639428(c.280+294G>T),
134639494(c.280+228A>G),
134639525(c.280+197A>G),
134639715(c.280+7T>C),
134640097(c.165-260T>C),
134640438(c.165-601C>T),
134640631(c.165-794G>A),
134641039(c.165-1202A>G),
134641533(c.165-1696C>T),
134641710(c.165-1873T>C),
134641810(c.165-1973T>G),
134641884(c.164+1958A>T),
134641928(c.164+1914G>A),
134642103(c.164+1739A>T),
134642204(c.164+1638T>C),
134642828(c.164+1014C>A),
134643223(c.164+619G>A),
134643226(c.164+616G>A),
134643369(c.164+473T>A),
-1kb
134589366(c.*9159T>G),
134589428(c.*9097T>G),
134589429(c.*9096T>G),
134589495(c.*9030C>A),
134589537(c.*8988G>A),
134589575(c.*8950C>T),
134589680(c.*8845T>C),
134590053(c.*8472C>T),
134590316(c.*8209G>A),
134590417(c.*8108T>C),
134590441(c.*8084C>T),
134591112(c.*7413T>G),
134591246(c.*7279T>C),
134591313(c.*7212G>A),
134591447(c.*7078C>A),
134591558(c.*6967C>T),
134591593(c.*6932G>A),
134592117(c.*6408C>G),
134592259(c.*6266A>G),
134592305(c.*6220G>A),
134592568(c.*5957A>T),
134592629(c.*5896G>A),
134592687(c.*5838G>A),
134592706(c.*5819C>A),
134592741(c.*5784T>G),
134593051(c.*5474G>C),
134593184(c.*5341C>T),
134593310(c.*5215T>C),
134593426(c.*5099C>G),
134593498(c.*5027C>T),
134593516(c.*5009G>A),
134593605(c.*4920G>C),
134593613(c.*4912G>A),
134593631(c.*4894A>C),
134593868(c.*4657G>A),
134593996(c.*4529A>G),
|
Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
134602033 (c.502-1045_502-1044insTTGGT),
134610623 (c.456-1048dupT),
134611303 (c.456-1728dupA),
134611903 (c.456-2330_456-2328dupGGA),
134612378 (c.456-2803dupA),
134623340 (c.281-1908dupA),
134629385 (c.281-7953_281-7952insTCTC),
134629422 (c.281-7990_281-7989insT),
134629424 (c.281-7992dupT),
134636639 (c.280+3078_280+3082dupAGAAA),
134636825 (c.280+2896_280+2897insAC),
134636846 (c.280+2875dupA),
134636852 (c.280+2869_280+2870insA),
134637529 (c.280+2192dupT),
134640900 (c.165-1064dupT),
134641947 (c.164+1894_164+1895insT),
134642114 (c.164+1727_164+1728insTCTC),
134642357 (c.164+1484_164+1485insTT),
134642384 (c.164+1457_164+1458insTCAGAGTCAG),
134642698 (c.164+1143_164+1144insTT),
134642875 (c.164+966dupA),
134643346 (c.164+495_164+496insATTATATGAAATT),
-1kb
|
Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
134598887 (c.668-23delT),
134600862 (c.603+25delT),
134601621 (c.502-634_502-633delTT),
134602017 (c.502-1029delT),
134602582 (c.502-1596_502-1594delACA),
134607437 (c.501+2093delA),
134611043 (c.456-1468delG),
134622419 (c.281-988_281-987delTT),
134623073 (c.281-1642_281-1641delAA),
134624957 (c.281-3525delT),
134625533 (c.281-4101delC),
134629254 (c.281-7823_281-7822delTT),
134629637 (c.281-8208_281-8205delATTA),
134631341 (c.280+8375_280+8380delTCTCCC),
134631965 (c.280+7756delA),
134632127 (c.280+7594delT),
134634856 (c.280+4857_280+4865delAAAAAAGAA),
134636719 (c.280+2997_280+3002delAGACAG),
134636766 (c.280+2954_280+2955delGA),
134639676 (c.280+45delT),
134640080 (c.165-244delA),
134641462 (c.165-1636_165-1626delCGCACGCACAC),
134641593 (c.165-1765_165-1757delAAAAAAAAA),
134641746 (c.165-1910delC),
134641963 (c.164+1878delT),
-1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 1 |
non-synonymous num | 1 |
synonymous substitutions |
134600029 (p.Arg216Arg),
|
non-synonymous substitutions |
134598569 (p.Ala322Ser),
|
B6 transcript
(ENSMUST00000038228)
|
MTGGFCVPVLLAAWLAAAAAEGLEQAALPAEESRVQPMTASNWTLVMEGEWMLKFYAPWC
PSCQQTDSEWETFAKNGETLQISVGKVDVIQEPGLSGRFFVTTLPAFFHAKDGIFRRYRG
PGIYEDLQNYILEKKWQSVEPLTGWKSPASLTMSGMAGLFSISGKIWHLHNYFTVTLGIP
AWCSYVFFVIATLVFGLFMGLILVVISECFCVPLPRASSERCEQEQSTGEAQGAEQLQDA
EEEKDDSNEEENKDSLVDDEEEKEDIGDEDEGEEDEEEDNLAGIMAEERSDTNERAVVKE
GSVSPKEDGAHPADTQDVVEDALRQRKSQNANKGS*
|
MSMv4 transcript
|
MTGGFCVPVLLAAWLAAAAAEGLEQAALPAEESRVQPMTASNWTLVMEGEWMLKFYAPWC
PSCQQTDSEWETFAKNGETLQISVGKVDVIQEPGLSGRFFVTTLPAFFHAKDGIFRRYRG
PGIYEDLQNYILEKKWQSVEPLTGWKSPASLTMSGMAGLFSISGKIWHLHNYFTVTLGIP
AWCSYVFFVIATLVFGLFMGLILVVISECFCVPLPRASSERCEQEQSTGEAQGAEQLQDA
EEEKDDSNEEENKDSLVDDEEEKEDIGDEDEGEEDEEEDNLAGIMAEERSDTNERAVVKE
GSVSPKEDGAHPADTQDVVEDSLRQRKSQNANKGS*
|
homology | 99.70 (336 / 336) |
|