| 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.203-4461T>A),
16696364(c.203-4431A>G),
16696519(c.203-4276G>A),
16696548(c.203-4247C>T),
16696607(c.203-4188A>G),
16696631(c.203-4164G>A),
16696672(c.203-4123G>T),
16696771(c.203-4024A>G),
16696879(c.203-3916T>C),
16696880(c.203-3915A>T),
16696915(c.203-3880A>C),
16696936(c.203-3859C>T),
16696944(c.203-3851A>G),
16696948(c.203-3847C>G),
16696950(c.203-3845A>C),
16696951(c.203-3844C>G),
16696953(c.203-3842A>C),
16696974(c.203-3821T>C),
16696996(c.203-3799T>A),
16697076(c.203-3719G>C),
16697082(c.203-3713A>T),
16697089(c.203-3706T>C),
16697301(c.203-3494G>A),
16697364(c.203-3431T>C),
16697459(c.203-3336A>G),
16698337(c.203-2458A>G),
16698795(c.203-2000A>C),
16698797(c.203-1998C>G),
16698972(c.203-1823G>T),
16699503(c.203-1292G>C),
16699623(c.203-1172A>G),
16699873(c.203-922A>T),
16700542(c.203-253C>T),
16700669(c.203-126A>G),
16701414(c.331+491C>G),
16701683(c.331+760A>G),
16701697(c.331+774C>T),
16701748(c.331+825C>T),
16701780(c.331+857G>T),
16701807(c.331+884T>C),
16702987(c.331+2064T>C),
16702996(c.331+2073G>A),
16703091(c.331+2168G>T),
16703123(c.331+2200G>C),
16703144(c.331+2221G>A),
16703231(c.331+2308A>C),
16703255(c.331+2332C>A),
16703326(c.331+2403A>C),
16703362(c.331+2439G>A),
16703376(c.331+2453G>A),
16703414(c.331+2491C>A),
16703419(c.331+2496A>C),
16703424(c.331+2501G>A),
16703501(c.331+2578C>T),
16703509(c.331+2586A>G),
16703539(c.331+2616G>A),
16703542(c.331+2619T>C),
16703665(c.332-2508C>T),
16703770(c.332-2403G>A),
16703854(c.332-2319C>T),
16703924(c.332-2249A>G),
16703972(c.332-2201T>C),
16704000(c.332-2173C>A),
16704093(c.332-2080A>C),
16704111(c.332-2062T>G),
16704117(c.332-2056A>G),
16704192(c.332-1981T>G),
16704209(c.332-1964C>T),
16704261(c.332-1912T>C),
16704289(c.332-1884A>G),
16704321(c.332-1852C>G),
16704349(c.332-1824T>G),
16704442(c.332-1731C>G),
16704519(c.332-1654T>G),
16704537(c.332-1636G>A),
16704601(c.332-1572A>C),
16704860(c.332-1313C>T),
16704864(c.332-1309C>T),
16704893(c.332-1280C>T),
16704915(c.332-1258T>C),
16705010(c.332-1163A>G),
16705024(c.332-1149T>C),
16705031(c.332-1142T>C),
16705032(c.332-1141T>C),
16705068(c.332-1105C>T),
16705076(c.332-1097G>A),
16705086(c.332-1087G>A),
16705113(c.332-1060A>T),
16705257(c.332-916T>C),
16705262(c.332-911G>C),
16705273(c.332-900C>T),
16705287(c.332-886A>C),
16705312(c.332-861C>T),
16705457(c.332-716T>C),
16705529(c.332-644T>C),
16705617(c.332-556T>C),
16705623(c.332-550T>A),
16705637(c.332-536G>T),
16706071(c.332-102T>C),
16706079(c.332-94C>T),
16706425(c.384+200A>G),
16706552(c.384+327T>C),
16706711(c.384+486A>G),
16706714(c.384+489T>C),
16706826(c.384+601G>C),
16706836(c.384+611G>A),
16706935(c.384+710T>G),
16707253(c.384+1028G>A),
16707379(c.384+1154A>G),
16707554(c.384+1329A>G),
16707654(c.384+1429A>G),
16708034(c.385-1405G>C),
16709048(c.385-391A>T),
16709327(c.385-112T>G),
16709333(c.385-106T>C),
16709350(c.385-89A>G),
16709374(c.385-65C>A),
16709420(c.385-19C>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.203-4447dupG),
16697236 (c.203-3551_203-3549dupAAA),
16697811 (c.203-2976dupT),
16699655 (c.203-1134_203-1132dupGGG),
16700966 (c.331+54_331+56dupTTT),
16703461 (c.331+2542dupT),
16703464 (c.331+2542dupT),
16703797 (c.332-2376_332-2375dupCA),
16707057 (c.384+838dupA),
16708317 (c.385-1123_385-1122dupGT),
+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.331+1831_331+1833delTGT),
16703009 (c.331+2088delT),
16703279 (c.331+2359_331+2363delGGGCT),
16703416 (c.331+2494delG),
16703623 (c.332-2548_332-2545delAGTG),
16705120 (c.332-1046_332-1044delACC),
16705445 (c.332-721_332-720delCA),
16706813 (c.384+589_384+594delATTTTA),
16707298 (c.384+1082delA),
16708338 (c.385-1097_385-1096delCT),
16708341 (c.385-1097_385-1096delCT),
16708683 (c.385-755delT),
+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
(ENSMUST00000026881)
|
MLPFILFSTLLSPILTESEKQQWFCNSSDAIISYSYCDHLKFPISISSEPCIRLRGTNGF
VHVEFIPRGNLKYLYFNLFISVNSIELPKRKEVLCHGHDDDYSFCRALKGETVNTSIPFS
FEGILFPKGHYRCVAEAIAGDTEEKLFCLNFTIIHRRDVN*
|
|
MSMv4 transcript
|
MLPFILFSTLLSPILTESEKQQWFCNSSDAIISYSYCDHLKFPISISSEPCIRLRGTNGF
VHVEFIPRGNLKYLYFNLFISVNSIELPKRKEVLCHGHDDDYSFCRALKGETVNTSIPFS
FEGILFPKGHYRCVAEAIAGDTEEKLFCLNFTIIHRRDVN*
|
| homology | 100.00 (161 / 161) |
|