| Reports |
| substitution |
| cSNPs | 4 |
| Insertion | 22 |
| Deletion | 33 |
| SNPs |
-1kb
96099731(c.-36809G>A),
96099876(c.-36664A>G),
96099882(c.-36658G>A),
96100014(c.-36526C>T),
96100109(c.-36431G>T),
96100140(c.-36400C>T),
96100166(c.-36374C>T),
96100170(c.-36370C>T),
96100376(c.-36164C>T),
96100505(c.-36035C>G),
96100982(c.-35558A>G),
96100999(c.-35541T>C),
96101439(c.-35101G>A),
96101776(c.-34764G>A),
96102395(c.-34145A>G),
96104370(c.-32170G>A),
5'UTR
CDS
3'UTR
96156450(c.*482A>G),
96156757(c.*789A>C),
96156760(c.*792A>G),
96156773(c.*805G>T),
96157404(c.*1436C>A),
96157528(c.*1560G>A),
96157602(c.*1634G>A),
96157711(c.*1743A>T),
96158523(c.*2555A>G),
96158781(c.*2813G>A),
96159330(c.*3362C>T),
96159461(c.*3493C>G),
96159839(c.*3871G>A),
96160101(c.*4133G>A),
96160617(c.*4649T>C),
96160618(c.*4650G>A),
96160917(c.*4949A>G),
96160933(c.*4965C>T),
INTRON
96104927(c.-67+108C>T),
96105032(c.-67+213T>C),
96106983(c.-67+2164C>T),
96107581(c.-67+2762C>T),
96108892(c.-67+4073C>A),
96108895(c.-67+4076T>C),
96109381(c.-67+4562G>A),
96109964(c.-67+5145G>A),
96110755(c.-67+5936T>C),
96111047(c.-67+6228C>T),
96111146(c.-67+6327T>C),
96111309(c.-67+6490T>G),
96111881(c.-67+7062C>T),
96111943(c.-67+7124G>T),
96111965(c.-67+7146G>A),
96112226(c.-67+7407A>G),
96112303(c.-67+7484T>G),
96112309(c.-67+7490A>G),
96112314(c.-67+7495A>G),
96112746(c.-67+7927C>T),
96113190(c.-67+8371T>A),
96113254(c.-67+8435G>T),
96113353(c.-67+8534C>T),
96113612(c.-67+8793A>G),
96113818(c.-67+8999T>C),
96113876(c.-67+9057C>T),
96113926(c.-67+9107A>G),
96114196(c.-67+9377T>C),
96114200(c.-67+9381G>A),
96114250(c.-67+9431T>C),
96114597(c.-67+9778C>A),
96114886(c.-67+10067G>T),
96115010(c.-67+10191A>G),
96115189(c.-67+10370T>A),
96115831(c.-67+11012G>A),
96116159(c.-67+11340T>G),
96116186(c.-67+11367T>A),
96116188(c.-67+11369C>A),
96116554(c.-67+11735T>C),
96116903(c.-67+12084C>G),
96117011(c.-67+12192G>A),
96117219(c.-67+12400G>A),
96117281(c.-67+12462C>T),
96117297(c.-67+12478A>G),
96117366(c.-67+12547T>C),
96118147(c.-67+13328T>C),
96118286(c.-67+13467T>G),
96118290(c.-67+13471C>T),
96118298(c.-67+13479C>T),
96118303(c.-67+13484C>T),
96118478(c.-67+13659C>T),
96118522(c.-67+13703C>G),
96118813(c.-67+13994C>A),
96119064(c.-67+14245G>T),
96119352(c.-67+14533A>T),
96119363(c.-67+14544T>A),
96119825(c.-67+15006A>T),
96119987(c.-67+15168T>C),
96120765(c.-66-15709A>G),
96120838(c.-66-15636C>T),
96120878(c.-66-15596C>T),
96121156(c.-66-15318T>C),
96121543(c.-66-14931C>T),
96122451(c.-66-14023G>A),
96122893(c.-66-13581T>C),
96122934(c.-66-13540T>C),
96123046(c.-66-13428A>G),
96123442(c.-66-13032G>T),
96123489(c.-66-12985G>T),
96123633(c.-66-12841T>C),
96123784(c.-66-12690C>T),
96123944(c.-66-12530A>T),
96124007(c.-66-12467T>C),
96124042(c.-66-12432T>C),
96124061(c.-66-12413G>A),
96124547(c.-66-11927C>T),
96125108(c.-66-11366T>A),
96125634(c.-66-10840A>G),
96125702(c.-66-10772A>G),
96126054(c.-66-10420C>T),
96126075(c.-66-10399G>A),
96126576(c.-66-9898T>C),
96126918(c.-66-9556T>C),
96127348(c.-66-9126A>G),
96127898(c.-66-8576C>T),
96128186(c.-66-8288A>G),
96128550(c.-66-7924A>T),
96128714(c.-66-7760A>T),
96129013(c.-66-7461A>G),
96129628(c.-66-6846G>A),
96129714(c.-66-6760A>G),
96129716(c.-66-6758A>G),
96129732(c.-66-6742T>C),
96129747(c.-66-6727G>A),
96130027(c.-66-6447C>T),
96131201(c.-66-5273C>A),
96131277(c.-66-5197G>T),
96131318(c.-66-5156C>G),
96131911(c.-66-4563T>C),
96132091(c.-66-4383C>T),
96132139(c.-66-4335T>G),
96132222(c.-66-4252T>A),
96132555(c.-66-3919C>T),
96132840(c.-66-3634G>T),
96132992(c.-66-3482C>T),
96133425(c.-66-3049G>A),
96133669(c.-66-2805T>C),
96134421(c.-66-2053C>G),
96134465(c.-66-2009C>T),
96134900(c.-66-1574T>C),
96135320(c.-66-1154G>A),
96135335(c.-66-1139C>A),
96136346(c.-66-128T>G),
96136395(c.-66-79G>T),
96136444(c.-66-30G>C),
96136634(c.85+10A>G),
96136951(c.85+327A>G),
96137624(c.85+1000G>A),
96138818(c.86-1599T>C),
96138883(c.86-1534A>G),
96139129(c.86-1288T>C),
96139178(c.86-1239G>A),
96139452(c.86-965G>A),
96139705(c.86-712G>A),
96139747(c.86-670C>T),
96139965(c.86-452C>A),
96140184(c.86-233T>C),
96140373(c.86-44A>G),
96140382(c.86-35G>C),
96140405(c.86-12T>C),
96140880(c.274+275A>G),
96141980(c.502+265T>C),
96142708(c.502+993A>T),
96143027(c.503-1214G>A),
96143561(c.503-680C>A),
96143720(c.503-521T>C),
96144817(c.605-151C>T),
96145208(c.732+113T>G),
96145225(c.732+130A>G),
96145869(c.732+774A>G),
96146344(c.732+1249T>C),
96146451(c.732+1356C>T),
96146552(c.732+1457A>G),
96146825(c.732+1730C>T),
96146872(c.732+1777T>G),
96147323(c.732+2228G>A),
96147486(c.732+2391G>A),
96147607(c.732+2512C>T),
96147671(c.732+2576G>A),
96147782(c.732+2687G>A),
96147906(c.732+2811G>A),
96148189(c.733-2673C>A),
96148589(c.733-2273G>A),
96148773(c.733-2089T>G),
96148778(c.733-2084T>C),
96149112(c.733-1750G>A),
96149129(c.733-1733A>G),
96149375(c.733-1487G>T),
96151018(c.845+44G>A),
96151106(c.845+132A>G),
96151313(c.846-25C>T),
96151552(c.973+87C>T),
96152087(c.1123+43G>A),
96152806(c.1238+179G>A),
96152978(c.1238+351C>G),
96153552(c.1323+60A>C),
96153619(c.1323+127A>G),
96153727(c.1323+235A>G),
96154665(c.1324-104T>G),
96154668(c.1324-101G>T),
96154697(c.1324-72A>T),
+1kb
96161388(c.*5420T>G),
96161531(c.*5563A>T),
96161707(c.*5739T>G),
96162286(c.*6318A>T),
96163222(c.*7254A>G),
96163242(c.*7274T>G),
96163345(c.*7377A>C),
96163392(c.*7424G>A),
96163649(c.*7681C>T),
96163902(c.*7934T>C),
96164332(c.*8364C>T),
96164921(c.*8953T>C),
96165069(c.*9101A>C),
96165294(c.*9326T>C),
96165305(c.*9337A>G),
96165523(c.*9555A>G),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
96105285 (c.-67+469dupG),
96105956 (c.-67+1143dupT),
96107267 (c.-67+2448_-67+2449insCA),
96108668 (c.-67+3849_-67+3850insT),
96109783 (c.-67+4965dupT),
96114827 (c.-67+10010dupG),
96117709 (c.-67+12891dupA),
96117972 (c.-67+13157_-67+13158insCTTGTCT),
96119110 (c.-67+14293_-67+14294dupGT),
96119113 (c.-67+14293_-67+14294dupGT),
96123444 (c.-66-13029_-66-13027dupTAG),
96128745 (c.-66-7729_-66-7728insG),
96134344 (c.-66-2117_-66-2115dupTTG),
96148358 (c.733-2495dupA),
96150088 (c.733-774_733-773insGC),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
96104949 (c.-67+135delC),
96105294 (c.-67+476delG),
96105703 (c.-67+888delC),
96107330 (c.-67+2512_-67+2513delGG),
96107546 (c.-67+2736delT),
96111766 (c.-67+6949delT),
96115633 (c.-67+10815_-67+10816delCC),
96115798 (c.-67+10980_-67+10981delTT),
96116132 (c.-67+11314delC),
96116635 (c.-67+11817_-67+11823delATAGGAT),
96117228 (c.-67+12411delT),
96117923 (c.-67+13105delT),
96119208 (c.-67+14390_-67+14394delGGTTG),
96121744 (c.-66-14725_-66-14723delTCT),
96123582 (c.-66-12891_-66-12889delCCT),
96125310 (c.-66-11153_-66-11146delGTTTTTTT),
96126275 (c.-66-10198_-66-10197delTG),
96127148 (c.-66-9324_-66-9319delCAAACA),
96128363 (c.-66-8110delC),
96128476 (c.-66-7997_-66-7993delTGTAG),
96131228 (c.-66-5245_-66-5243delGAA),
96134792 (c.-66-1671delA),
96136439 (c.-66-33delT),
96138357 (c.85+1736_85+1741delCTTACT),
96141276 (c.275-200delA),
96146317 (c.732+1225_732+1226delAT),
96147022 (c.732+1972_732+1975delACAC),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 2 |
| non-synonymous num | 2 |
| synonymous substitutions |
96140451 (p.Asp40Asp),
96145011 (p.Ala216Ala),
|
| non-synonymous substitutions |
96140483 (p.Asn51Ser),
96155495 (p.Pro684Ser),
|
B6 transcript
(ENSMUST00000035519)
|
MTLDMDAVLSDFVRSTGAEPGLARDLLEGKNWDVSAALSDFEQLRQVHAGNLSPPFSGGS
TCPKTPEKGGSDREPTRPSRPILQRQDDVIQEKRLSRGISHASSSIVSLARSHVSSNGGG
GGSSEHPLEMPICAFQLPDLTVYKEDFRSFIERDLIEQSMLVALEQAGRLNWWVSMDSTC
QRLLPLATTGDGNCLLHAASLGMWGFHDRDLVLRKALYALMEKGVEKEALRRRWRWQQTQ
QNKESGLVYTEDEWQKEWNELIKLASSEPRMHLGSNGASGGGVESSEEPVYESLEEFHVF
VLAHVLKRPIVVVADTMLRDSGGEAFAPIPFGGIYLPLEVPASQCHRSPLVLAYDQAHFS
ALVSMEQKESAKEQAVIPLTDSEHKLLPLHFAVDPGKGWEWGKDDNDNVRLASIILSLEV
KLHLLHSYMNVKWIPLSSDSQAPLAQPESPTASAGDEPRSTPESGESDKESVGSSSLGNE
GSRRKEKSKRDREKDKKRADSVANKLGSFGKTLGSKLKKNMGGLMHSKGPKPGGLGSGSG
ISSGTETLEKKKKNNTLKSWKGGKEEAAGDGPVSEKPPSESVGNGGSKYSQEVMQSLSTM
RIAMQGEGKYIFVGTLKMGHRHQYQEEMIQRYLADAEERFLAEQKQKEVERKIMNGGLVS
GPPPAKKPEPDGGEDQPSDSPAEPKAMAFSTAYPGGFTIPRPSGGGVHCQEPRRQLAGGP
CVGGLPSYATFPRQYPGRPYPHQDNIPALEPGKDGVHRGALLPPQFRVADSYSNGYREPP
EPDGWAGAPRGLPPTQTKCKQPNCSFYGHPETNNLCSCCYREELRRREREPGGELLAHRF
*
|
|
MSMv4 transcript
|
MTLDMDAVLSDFVRSTGAEPGLARDLLEGKNWDVSAALSDFEQLRQVHAGSLSPPFSGGS
TCPKTPEKGGSDREPTRPSRPILQRQDDVIQEKRLSRGISHASSSIVSLARSHVSSNGGG
GGSSEHPLEMPICAFQLPDLTVYKEDFRSFIERDLIEQSMLVALEQAGRLNWWVSMDSTC
QRLLPLATTGDGNCLLHAASLGMWGFHDRDLVLRKALYALMEKGVEKEALRRRWRWQQTQ
QNKESGLVYTEDEWQKEWNELIKLASSEPRMHLGSNGASGGGVESSEEPVYESLEEFHVF
VLAHVLKRPIVVVADTMLRDSGGEAFAPIPFGGIYLPLEVPASQCHRSPLVLAYDQAHFS
ALVSMEQKESAKEQAVIPLTDSEHKLLPLHFAVDPGKGWEWGKDDNDNVRLASIILSLEV
KLHLLHSYMNVKWIPLSSDSQAPLAQPESPTASAGDEPRSTPESGESDKESVGSSSLGNE
GSRRKEKSKRDREKDKKRADSVANKLGSFGKTLGSKLKKNMGGLMHSKGPKPGGLGSGSG
ISSGTETLEKKKKNNTLKSWKGGKEEAAGDGPVSEKPPSESVGNGGSKYSQEVMQSLSTM
RIAMQGEGKYIFVGTLKMGHRHQYQEEMIQRYLADAEERFLAEQKQKEVERKIMNGGLVS
GPPPAKKPEPDGGEDQPSDSPAESKAMAFSTAYPGGFTIPRPSGGGVHCQEPRRQLAGGP
CVGGLPSYATFPRQYPGRPYPHQDNIPALEPGKDGVHRGALLPPQFRVADSYSNGYREPP
EPDGWAGAPRGLPPTQTKCKQPNCSFYGHPETNNLCSCCYREELRRREREPGGELLAHRF
*
|
| homology | 99.76 (841 / 841) |
|