| Reports |
| substitution |
| cSNPs | 1 |
| Insertion | 17 |
| Deletion | 25 |
| SNPs |
-1kb
16683554(c.-4954T>C),
16683889(c.-4619T>A),
16684079(c.-4429C>T),
16684093(c.-4415T>C),
16684241(c.-4267G>C),
16684259(c.-4249C>A),
16684281(c.-4227T>C),
16685530(c.-2978C>A),
16686421(c.-2087C>G),
16686439(c.-2069G>A),
16686801(c.-1707A>T),
16686890(c.-1618C>A),
16687090(c.-1418T>C),
16687091(c.-1417G>A),
16687118(c.-1390G>A),
16687142(c.-1366G>T),
16687237(c.-1271A>G),
16687300(c.-1208A>T),
16687414(c.-1094G>A),
16687581(c.-927C>T),
16687741(c.-767C>A),
16687761(c.-747C>T),
16687771(c.-737C>A),
16687827(c.-681C>T),
16688115(c.-393A>G),
16688331(c.-177T>G),
16688373(c.-135C>T),
16688393(c.-115G>A),
16688404(c.-104G>A),
16688412(c.-96C>T),
5'UTR
CDS
3'UTR
INTRON
16689392(c.112+773A>T),
16689624(c.112+1005C>T),
16689693(c.112+1074A>T),
16689718(c.112+1099C>G),
16689741(c.112+1122C>A),
16689769(c.112+1150T>G),
16689797(c.112+1178A>C),
16689831(c.112+1212G>A),
16690020(c.112+1401T>C),
16690154(c.113-1530A>G),
16690204(c.113-1480A>T),
16690311(c.113-1373T>C),
16690329(c.113-1355C>T),
16690402(c.113-1282T>C),
16690533(c.113-1151T>C),
16690554(c.113-1130C>T),
16690792(c.113-892A>G),
16690807(c.113-877A>G),
16690837(c.113-847A>G),
16691279(c.113-405T>G),
16691372(c.113-312C>T),
16691402(c.113-282C>T),
16691404(c.113-280A>G),
16691429(c.113-255C>T),
16691452(c.113-232A>G),
16691520(c.113-164G>T),
16691547(c.113-137T>C),
16691555(c.113-129G>A),
16691561(c.113-123A>G),
16691620(c.113-64G>A),
16691817(c.202+44T>C),
16691823(c.202+50T>C),
16691836(c.202+63G>T),
16692338(c.202+565A>C),
16692547(c.202+774T>G),
16692583(c.202+810T>C),
16692682(c.202+909C>T),
16692893(c.202+1120G>A),
16693251(c.202+1478T>C),
16693398(c.202+1625T>C),
16693466(c.202+1693G>A),
16694045(c.202+2272G>A),
16694201(c.202+2428A>G),
16694282(c.202+2509A>G),
16694333(c.202+2560A>G),
16694516(c.202+2743C>T),
16694521(c.202+2748T>C),
16694603(c.202+2830A>C),
16694710(c.202+2937A>G),
16694785(c.202+3012T>A),
16694821(c.202+3048C>T),
16694826(c.202+3053C>A),
16694855(c.202+3082C>T),
16694884(c.202+3111C>T),
16694910(c.202+3137A>T),
16694970(c.202+3197T>G),
16694972(c.202+3199C>T),
16694974(c.202+3201A>G),
16695051(c.202+3278A>G),
16695070(c.202+3297A>C),
16695095(c.202+3322T>C),
16695125(c.202+3352C>G),
16695171(c.202+3398G>T),
16695187(c.202+3414A>C),
16695247(c.202+3474T>C),
16695270(c.202+3497G>A),
16695288(c.202+3515G>A),
16695295(c.202+3522A>G),
16695484(c.202+3711C>T),
16695493(c.202+3720G>A),
16695561(c.202+3788C>T),
16695632(c.202+3859T>C),
16695681(c.202+3908G>A),
16695749(c.202+3976A>G),
16695777(c.202+4004T>C),
16695866(c.202+4093C>G),
16695871(c.202+4098A>T),
16696113(c.202+4340A>G),
16696125(c.202+4352T>A),
16696334(c.203-4515T>A),
16696364(c.203-4485A>G),
16696519(c.203-4330G>A),
16696548(c.203-4301C>T),
16696607(c.203-4242A>G),
16696631(c.203-4218G>A),
16696672(c.203-4177G>T),
16696771(c.203-4078A>G),
16696879(c.203-3970T>C),
16696880(c.203-3969A>T),
16696915(c.203-3934A>C),
16696936(c.203-3913C>T),
16696944(c.203-3905A>G),
16696948(c.203-3901C>G),
16696950(c.203-3899A>C),
16696951(c.203-3898C>G),
16696953(c.203-3896A>C),
16696974(c.203-3875T>C),
16696996(c.203-3853T>A),
16697076(c.203-3773G>C),
16697082(c.203-3767A>T),
16697089(c.203-3760T>C),
16697301(c.203-3548G>A),
16697364(c.203-3485T>C),
16697459(c.203-3390A>G),
16698337(c.203-2512A>G),
16698795(c.203-2054A>C),
16698797(c.203-2052C>G),
16698972(c.203-1877G>T),
16699503(c.203-1346G>C),
16699623(c.203-1226A>G),
16699873(c.203-976A>T),
16700542(c.203-307C>T),
16700669(c.203-180A>G),
16701414(c.277+491C>G),
16701683(c.277+760A>G),
16701697(c.277+774C>T),
16701748(c.277+825C>T),
16701780(c.277+857G>T),
16701807(c.277+884T>C),
16702987(c.277+2064T>C),
16702996(c.277+2073G>A),
16703091(c.277+2168G>T),
16703123(c.277+2200G>C),
16703144(c.277+2221G>A),
16703231(c.277+2308A>C),
16703255(c.277+2332C>A),
16703326(c.277+2403A>C),
16703362(c.277+2439G>A),
16703376(c.277+2453G>A),
16703414(c.277+2491C>A),
16703419(c.277+2496A>C),
16703424(c.277+2501G>A),
16703501(c.277+2578C>T),
16703509(c.277+2586A>G),
16703539(c.277+2616G>A),
16703542(c.277+2619T>C),
16703665(c.278-2508C>T),
16703770(c.278-2403G>A),
16703854(c.278-2319C>T),
16703924(c.278-2249A>G),
16703972(c.278-2201T>C),
16704000(c.278-2173C>A),
16704093(c.278-2080A>C),
16704111(c.278-2062T>G),
16704117(c.278-2056A>G),
16704192(c.278-1981T>G),
16704209(c.278-1964C>T),
16704261(c.278-1912T>C),
16704289(c.278-1884A>G),
16704321(c.278-1852C>G),
16704349(c.278-1824T>G),
16704442(c.278-1731C>G),
16704519(c.278-1654T>G),
16704537(c.278-1636G>A),
16704601(c.278-1572A>C),
16704860(c.278-1313C>T),
16704864(c.278-1309C>T),
16704893(c.278-1280C>T),
16704915(c.278-1258T>C),
16705010(c.278-1163A>G),
16705024(c.278-1149T>C),
16705031(c.278-1142T>C),
16705032(c.278-1141T>C),
16705068(c.278-1105C>T),
16705076(c.278-1097G>A),
16705086(c.278-1087G>A),
16705113(c.278-1060A>T),
16705257(c.278-916T>C),
16705262(c.278-911G>C),
16705273(c.278-900C>T),
16705287(c.278-886A>C),
16705312(c.278-861C>T),
16705457(c.278-716T>C),
16705529(c.278-644T>C),
16705617(c.278-556T>C),
16705623(c.278-550T>A),
16705637(c.278-536G>T),
16706071(c.278-102T>C),
16706079(c.278-94C>T),
16706425(c.330+200A>G),
16706552(c.330+327T>C),
16706711(c.330+486A>G),
16706714(c.330+489T>C),
16706826(c.330+601G>C),
16706836(c.330+611G>A),
16706935(c.330+710T>G),
16707253(c.330+1028G>A),
16707379(c.330+1154A>G),
16707554(c.330+1329A>G),
16707654(c.330+1429A>G),
16708034(c.331-1405G>C),
16709048(c.331-391A>T),
16709327(c.331-112T>G),
16709333(c.331-106T>C),
16709350(c.331-89A>G),
16709374(c.331-65C>A),
16709420(c.331-19C>T),
+1kb
16709662(c.*125G>A),
16709694(c.*157C>G),
16709738(c.*201A>G),
16713457(c.*3920T>C),
16713494(c.*3957G>A),
16713648(c.*4111T>G),
16713660(c.*4123A>G),
16713670(c.*4133C>G),
16714349(c.*4812G>A),
16714449(c.*4912G>T),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
16689457 (c.112+845dupT),
16692165 (c.202+392_202+393insT),
16692524 (c.202+766_202+768dupATT),
16695875 (c.202+4102_202+4103insA),
16696347 (c.203-4501dupG),
16697236 (c.203-3605_203-3603dupAAA),
16697811 (c.203-3030dupT),
16699655 (c.203-1188_203-1186dupGGG),
16700966 (c.277+54_277+56dupTTT),
16703461 (c.277+2542dupT),
16703464 (c.277+2542dupT),
16703797 (c.278-2376_278-2375dupCA),
16707057 (c.330+838dupA),
16708317 (c.331-1123_331-1122dupGT),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
16689100 (c.112+482delT),
16689183 (c.112+569delT),
16689187 (c.112+569delT),
16691196 (c.113-483_113-480delTCTG),
16691645 (c.113-32_113-31delTT),
16693811 (c.202+2049delA),
16694539 (c.202+2767_202+2778delATCTTTTGGAGA),
16695011 (c.202+3240delG),
16696273 (c.202+4504delG),
16696276 (c.202+4504delG),
16702751 (c.277+1831_277+1833delTGT),
16703009 (c.277+2088delT),
16703279 (c.277+2359_277+2363delGGGCT),
16703416 (c.277+2494delG),
16703623 (c.278-2548_278-2545delAGTG),
16705120 (c.278-1046_278-1044delACC),
16705445 (c.278-721_278-720delCA),
16706813 (c.330+589_330+594delATTTTA),
16707298 (c.330+1082delA),
16708338 (c.331-1097_331-1096delCT),
16708341 (c.331-1097_331-1096delCT),
16708683 (c.331-755delT),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 1 |
| non-synonymous num | 0 |
| synonymous substitutions |
16691724 (p.Cys51Cys),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000190366)
|
MLPFILFSTLLSPILTESEKQQWFCNSSDAIISYSYCDHLKFPISISSEPCIRLRGTNGF
VHVEFIPKLPKRKEVLCHGHDDDYSFCRALKGETVNTSIPFSFEGILFPKGHYRCVAEAI
AGDTEEKLFCLNFTIIHRRDVN*
|
|
MSMv4 transcript
|
MLPFILFSTLLSPILTESEKQQWFCNSSDAIISYSYCDHLKFPISISSEPCIRLRGTNGF
VHVEFIPKLPKRKEVLCHGHDDDYSFCRALKGETVNTSIPFSFEGILFPKGHYRCVAEAI
AGDTEEKLFCLNFTIIHRRDVN*
|
| homology | 100.00 (143 / 143) |
|