| Reports |
|---|
| substitution |
|---|
| cSNPs | 1 |
|---|
| Insertion | 33 |
|---|
| Deletion | 36 |
|---|
| SNPs |
+1kb
33814655(c.-297G>A),
33815024(c.-666A>T),
33815048(c.-690A>C),
33815293(c.-935T>C),
33815338(c.-980T>C),
33815419(c.-1061A>G),
33816558(c.-2200G>T),
33816605(c.-2247C>T),
33816654(c.-2296A>G),
33816677(c.-2319A>T),
33816712(c.-2354C>T),
33816718(c.-2360C>T),
33816795(c.-2437T>C),
33816808(c.-2450A>G),
33816814(c.-2456G>A),
33816835(c.-2477C>T),
33816836(c.-2478C>T),
33816866(c.-2508G>A),
33816923(c.-2565T>C),
33816925(c.-2567A>T),
33816977(c.-2619G>A),
33817310(c.-2952A>G),
33817747(c.-3389G>A),
- 5'UTR
- CDS
- 3'UTR
- INTRON
33779200(c.731-9A>C),
33779236(c.731-45T>G),
33779386(c.731-195G>A),
33779577(c.730+319T>A),
33779738(c.730+158A>G),
33780253(c.577-204A>G),
33780562(c.577-513C>A),
33780641(c.577-592A>G),
33780742(c.577-693A>G),
33780770(c.577-721A>G),
33780820(c.577-771G>A),
33781051(c.577-1002T>G),
33781213(c.576+855T>A),
33781320(c.576+748G>A),
33781361(c.576+707G>A),
33781404(c.576+664T>C),
33781821(c.576+247A>C),
33782281(c.450-87T>A),
33782584(c.450-390C>A),
33782653(c.449+388G>A),
33782992(c.449+49A>G),
33783464(c.299-273T>C),
33783627(c.298+226T>C),
33783786(c.298+67A>G),
33784256(c.187-292T>C),
33784788(c.187-824T>C),
33785029(c.187-1065C>A),
33785083(c.187-1119T>C),
33785592(c.187-1628C>T),
33785964(c.187-2000C>T),
33786038(c.187-2074T>C),
33786520(c.187-2556T>C),
33786836(c.187-2872T>A),
33787518(c.187-3554A>T),
33787540(c.187-3576T>C),
33787843(c.187-3879T>C),
33787847(c.187-3883G>A),
33787866(c.187-3902A>G),
33787889(c.187-3925A>G),
33788059(c.187-4095A>G),
33788074(c.187-4110G>C),
33788108(c.187-4144A>C),
33788176(c.187-4212C>A),
33788278(c.187-4314G>C),
33788282(c.187-4318C>T),
33788295(c.187-4331G>T),
33788306(c.187-4342C>T),
33788308(c.187-4344T>C),
33788388(c.187-4424G>T),
33788397(c.187-4433A>G),
33788430(c.187-4466C>T),
33788467(c.187-4503C>A),
33788487(c.187-4523T>C),
33788664(c.187-4700G>A),
33788730(c.187-4766C>T),
33788867(c.187-4903A>G),
33789100(c.187-5136G>C),
33789174(c.187-5210C>T),
33789201(c.187-5237C>G),
33789205(c.187-5241C>T),
33790254(c.187-6290C>T),
33790533(c.187-6569C>T),
33791023(c.187-7059C>G),
33791339(c.187-7375C>A),
33791586(c.187-7622T>C),
33791891(c.187-7927A>C),
33792379(c.187-8415G>A),
33792489(c.187-8525T>C),
33792551(c.187-8587C>T),
33792602(c.187-8638T>G),
33792710(c.187-8746A>G),
33792781(c.187-8817C>T),
33792992(c.187-9028T>C),
33793163(c.187-9199A>G),
33793226(c.187-9262A>G),
33793345(c.187-9381A>T),
33793347(c.187-9383A>G),
33793417(c.187-9453T>C),
33793503(c.187-9539G>A),
33793607(c.187-9643G>A),
33794087(c.187-10123A>G),
33794176(c.187-10212C>G),
33794300(c.187-10336C>G),
33794448(c.187-10484C>T),
33794570(c.187-10606G>T),
33794576(c.187-10612G>A),
33794609(c.187-10645A>G),
33794732(c.186+10607A>G),
33794892(c.186+10447A>G),
33794923(c.186+10416T>A),
33795048(c.186+10291C>T),
33795220(c.186+10119C>T),
33795420(c.186+9919A>C),
33795556(c.186+9783A>G),
33795639(c.186+9700T>C),
33795652(c.186+9687T>C),
33795686(c.186+9653T>C),
33795841(c.186+9498C>G),
33796184(c.186+9155C>T),
33796334(c.186+9005T>C),
33796340(c.186+8999C>T),
33796343(c.186+8996G>A),
33796352(c.186+8987G>A),
33796379(c.186+8960G>A),
33796380(c.186+8959T>C),
33797255(c.186+8084T>C),
33797284(c.186+8055G>A),
33797334(c.186+8005C>G),
33797496(c.186+7843A>G),
33797541(c.186+7798A>G),
33797796(c.186+7543C>T),
33798515(c.186+6824G>A),
33798702(c.186+6637T>A),
33799179(c.186+6160G>A),
33799331(c.186+6008C>A),
33799607(c.186+5732T>G),
33799662(c.186+5677T>C),
33800191(c.186+5148T>C),
33800711(c.186+4628G>A),
33801496(c.186+3843T>C),
33801519(c.186+3820C>T),
33801709(c.186+3630G>T),
33802046(c.186+3293G>T),
33803254(c.186+2085A>G),
33803367(c.186+1972C>T),
33803864(c.186+1475C>G),
33803998(c.186+1341C>A),
33804266(c.186+1073T>G),
33804267(c.186+1072C>T),
33804337(c.186+1002C>T),
33804501(c.186+838G>A),
33804535(c.186+804A>G),
33804537(c.186+802G>A),
33804538(c.186+801T>C),
33804621(c.186+718T>C),
33804872(c.186+467G>A),
33804906(c.186+433T>C),
33805001(c.186+338G>T),
33805080(c.186+259C>T),
33805081(c.186+258C>T),
33805115(c.186+224C>T),
33805305(c.186+34T>G),
33805311(c.186+28T>C),
33805318(c.186+21T>C),
33805507(c.106-88C>G),
33805735(c.106-316G>A),
33806208(c.106-789G>T),
33806242(c.106-823G>A),
33806516(c.106-1097T>G),
33806849(c.106-1430G>A),
33807188(c.106-1769T>A),
33807330(c.106-1911C>T),
33807525(c.106-2106C>T),
33807593(c.106-2174C>T),
33807658(c.106-2239A>G),
33807709(c.106-2290A>G),
33807872(c.106-2453A>G),
33807924(c.106-2505C>T),
33807929(c.106-2510C>T),
33808176(c.106-2757A>G),
33808277(c.106-2858C>T),
33808394(c.106-2975G>A),
33808451(c.106-3032T>C),
33808599(c.106-3180C>T),
33808787(c.106-3368C>T),
33808816(c.106-3397A>T),
33808948(c.106-3529A>G),
33808985(c.106-3566C>T),
33809037(c.106-3618C>T),
33809076(c.106-3657G>A),
33809104(c.106-3685A>G),
33809109(c.106-3690G>A),
33809143(c.106-3724T>G),
33809200(c.106-3781G>C),
33809321(c.106-3902A>G),
33809340(c.106-3921C>T),
33809413(c.106-3994G>T),
33809482(c.106-4063A>G),
33809545(c.106-4126T>C),
33809568(c.106-4149G>A),
33809887(c.105+3840G>A),
33809972(c.105+3755A>T),
33810039(c.105+3688C>T),
33810299(c.105+3428T>C),
33810400(c.105+3327G>A),
33810523(c.105+3204T>C),
33810710(c.105+3017T>C),
33810888(c.105+2839A>G),
33810920(c.105+2807C>A),
33811197(c.105+2530T>C),
33811588(c.105+2139T>G),
33811725(c.105+2002G>A),
33811895(c.105+1832A>G),
33812011(c.105+1716T>G),
33812184(c.105+1543C>T),
33812205(c.105+1522G>A),
33812356(c.105+1371C>T),
33812710(c.105+1017G>A),
33813127(c.105+600C>A),
33813490(c.105+237C>T),
33813584(c.105+143T>A),
33813915(c.22-105T>A),
33814038(c.22-228A>G),
33814121(c.21+217A>G),
33814140(c.21+198C>T),
-
-1kb
33774402(c.*4787C>G),
33774498(c.*4691G>T),
33775028(c.*4161A>G),
33775249(c.*3940G>C),
33775310(c.*3879G>C),
33775911(c.*3278G>T),
33775953(c.*3236G>C),
33776135(c.*3054T>C),
33776210(c.*2979T>C),
33776225(c.*2964A>G),
33776249(c.*2940G>A),
33776250(c.*2939G>A),
33776398(c.*2791A>G),
33776408(c.*2781A>G),
33776555(c.*2634C>T),
33776576(c.*2613C>T),
33776606(c.*2583C>T),
33777444(c.*1745A>G),
33777550(c.*1639G>A),
33777916(c.*1273C>T),
33778587(c.*602A>G),
33778880(c.*309A>G),
33779003(c.*186A>G),
33779029(c.*160A>G),
33779033(c.*156T>C),
|
|---|
| Insertions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
33781506 (c.576+561_576+562insCTCAAGCT),
33782484 (c.450-291dupA),
33783760 (c.298+91_298+92dupAG),
33789972 (c.187-6009_187-6008insTG),
33791435 (c.187-7472_187-7471insCAACCATCCAG),
33792923 (c.187-8960dupT),
33795364 (c.186+9974_186+9975insA),
33795995 (c.186+9343dupT),
33797195 (c.186+8143_186+8144insGT),
33801713 (c.186+3625dupA),
33805293 (c.186+45_186+46insAA),
33806171 (c.106-753dupT),
33806362 (c.106-944_106-943insG),
33806498 (c.106-1080dupT),
33806935 (c.106-1517_106-1516insAG),
33806938 (c.106-1520_106-1519insAA),
33807303 (c.106-1885dupG),
33807609 (c.106-2191_106-2190insAT),
33809302 (c.106-3884_106-3883insGT),
33809843 (c.105+3883_105+3884insG),
33810270 (c.105+3456_105+3457insT),
33810798 (c.105+2925_105+2928dupACAA),
33810939 (c.105+2787_105+2788insATAT),
33811375 (c.105+2351_105+2352insA),
33811424 (c.105+2302_105+2303insG),
33811552 (c.105+2174_105+2175insAT),
-
-1kb
|
|---|
| Deletions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
33781845 (c.576+220_576+222delTTA),
33784489 (c.187-526delT),
33785764 (c.187-1801delT),
33787156 (c.187-3195_187-3193delTTA),
33787225 (c.187-3264_187-3262delTTA),
33787236 (c.187-3274_187-3273delTT),
33787881 (c.187-3922_187-3918delGGGAT),
33788173 (c.187-4210delC),
33791612 (c.187-7649delC),
33792217 (c.187-8256_187-8254delATT),
33794324 (c.187-10363_187-10361delTTT),
33795158 (c.186+10180delA),
33796490 (c.186+8846_186+8848delGTT),
33796671 (c.186+8666_186+8667delAT),
33796926 (c.186+8411_186+8412delTC),
33798631 (c.186+6707delT),
33799999 (c.186+5338_186+5339delTT),
33800859 (c.186+4478_186+4479delCT),
33801349 (c.186+3987_186+3989delTGT),
33804267 (c.186+1070_186+1071delAT),
33805014 (c.186+321_186+324delTTTT),
33805745 (c.106-327delT),
33807018 (c.106-1601_106-1600delTT),
33807756 (c.106-2339_106-2338delTT),
33808612 (c.106-3195_106-3194delTG),
33808623 (c.106-3206_106-3205delGG),
33808996 (c.106-3580_106-3578delTGT),
33809398 (c.106-3983_106-3980delTCTT),
33809859 (c.105+3863_105+3867delGTGGT),
33810326 (c.105+3392_105+3400delCAACAAACA),
-
-1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 1 |
|---|
| non-synonymous num | 0 |
|---|
| synonymous substitutions |
33779975 (p.Phe217Phe),
|
|---|
| non-synonymous substitutions |
|
|---|
B6 transcript
(ENSMUST00000194656)
|
MGDPGPEIIESVPPAGPEASESTTDENEDDIQFVSEGPLRPVLEYIDLVSSDDEEPSTSH
SDEKIDFQHAHGLQELEFIQGHSETEAARQCVDQWLKMPGLRTNAANSGTKRSFQRGGRM
WRSEKPILCPIMHCNKEFDNGHLLLGHLKRFDHSPCDPTITLHGPLANSFACAVCYEHFV
TQQQYKDHLLSRTAAADGHSNSLLPQIIQCYACPQCFLLFSTKDECLKHMSTKNHFHQSF
KLSD
|
|
MSMv4 transcript
|
MGDPGPEIIESVPPAGPEASESTTDENEDDIQFVSEGPLRPVLEYIDLVSSDDEEPSTSH
SDEKIDFQHAHGLQELEFIQGHSETEAARQCVDQWLKMPGLRTNAANSGTKRSFQRGGRM
WRSEKPILCPIMHCNKEFDNGHLLLGHLKRFDHSPCDPTITLHGPLANSFACAVCYEHFV
TQQQYKDHLLSRTAAADGHSNSLLPQIIQCYACPQCFLLFSTKDECLKHMSTKNHFHQSF
KLSD
|
| homology | 100.00 (244 / 244) |
|---|
|
