NM_001271208.1(NEB):c.7651_7656del6 (p.Tyr2551_Lys2552del)
|
rs1553983947 |
NM_001271208.2(NEB):c.107_109CAA[1] (p.Thr37del)
|
rs1553698850 |
NM_001271208.2(NEB):c.10817_10819del (p.Leu3606del)
|
rs1553911586 |
NM_001271208.2(NEB):c.10833_10835CAT[1] (p.Ile3613del)
|
rs773748212 |
NM_001271208.2(NEB):c.11215A>C (p.Lys3739Gln)
|
rs267598922 |
NM_001271208.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn)
|
rs1553898232 |
NM_001271208.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156 |
NM_001271208.2(NEB):c.1152+5G>A
|
rs111404077 |
NM_001271208.2(NEB):c.11954A>G (p.Tyr3985Cys)
|
rs745504838 |
NM_001271208.2(NEB):c.1470+2dup
|
rs1477702016 |
NM_001271208.2(NEB):c.153_167del (p.52_56LAQPA[1])
|
rs757726895 |
NM_001271208.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle)
|
rs746163908 |
NM_001271208.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del)
|
rs1553767010 |
NM_001271208.2(NEB):c.18694-6_18694-2del
|
rs1377029367 |
NM_001271208.2(NEB):c.18809_18811del (p.Arg6270del)
|
rs1553762776 |
NM_001271208.2(NEB):c.18953C>T (p.Pro6318Leu)
|
rs267598920 |
NM_001271208.2(NEB):c.19101+5G>A
|
rs374929094 |
NM_001271208.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006 |
NM_001271208.2(NEB):c.19518_19520GAA[1] (p.Lys6508del)
|
rs1553736221 |
NM_001271208.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215 |
NM_001271208.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup)
|
rs760783104 |
NM_001271208.2(NEB):c.20721_20723TCA[1] (p.His6909del)
|
rs1553696713 |
NM_001271208.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn)
|
rs1553696371 |
NM_001271208.2(NEB):c.21010_21012del (p.Glu7004del)
|
rs770208836 |
NM_001271208.2(NEB):c.2106+3A>C
|
rs1553589058 |
NM_001271208.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del)
|
rs1553683478 |
NM_001271208.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151 |
NM_001271208.2(NEB):c.21648_21650CAA[1] (p.Asn7217del)
|
rs758160111 |
NM_001271208.2(NEB):c.22051-2del
|
rs1553647715 |
NM_001271208.2(NEB):c.2211+5G>A
|
rs797045736 |
NM_001271208.2(NEB):c.2211+5G>T
|
rs797045736 |
NM_001271208.2(NEB):c.22204_22206ACA[1] (p.Thr7403del)
|
rs1553646403 |
NM_001271208.2(NEB):c.22378-6_22378-2dup
|
rs758609054 |
NM_001271208.2(NEB):c.22444_22446AAG[1] (p.Lys7483del)
|
rs1553641943 |
NM_001271208.2(NEB):c.22479+13_22479+33dup
|
rs1553641788 |
NM_001271208.2(NEB):c.22537C>T (p.Arg7513Cys)
|
rs202050860 |
NM_001271208.2(NEB):c.22747_22749del (p.Lys7583del)
|
rs1553629857 |
NM_001271208.2(NEB):c.22810_22812AAG[2] (p.Lys7606del)
|
rs760161843 |
NM_001271208.2(NEB):c.23010+2dup
|
rs1553623381 |
NM_001271208.2(NEB):c.23011-6_23011-2del
|
rs1014710501 |
NM_001271208.2(NEB):c.23384A>G (p.Asn7795Ser)
|
rs1232744915 |
NM_001271208.2(NEB):c.23425_23427CAA[1] (p.Gln7810del)
|
rs1553614214 |
NM_001271208.2(NEB):c.23483_23485del (p.Met7828_Ser7829delinsThr)
|
rs1553603652 |
NM_001271208.2(NEB):c.23602_23604GTT[1] (p.Val7869del)
|
rs1553601408 |
NM_001271208.2(NEB):c.23743_23745del (p.His7915del)
|
rs1553598770 |
NM_001271208.2(NEB):c.23953_23955del (p.Glu7985del)
|
rs1553576655 |
NM_001271208.2(NEB):c.23977_23979dup (p.Thr7993dup)
|
rs764993333 |
NM_001271208.2(NEB):c.23_25AGG[1] (p.Glu9del)
|
rs1553711235 |
NM_001271208.2(NEB):c.24015_24018dup (p.Glu8007fs)
|
rs761694639 |
NM_001271208.2(NEB):c.24034-1_24035dup
|
rs1427250696 |
NM_001271208.2(NEB):c.24034-2A>C
|
rs1553569122 |
NM_001271208.2(NEB):c.24034-7CA[2]
|
rs1217738625 |
NM_001271208.2(NEB):c.24042C>G (p.Tyr8014Ter)
|
rs779173742 |
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs)
|
rs756384471 |
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter)
|
rs549794342 |
NM_001271208.2(NEB):c.24104_24107TCAA[1] (p.Asn8036fs)
|
rs1553568447 |
NM_001271208.2(NEB):c.24117_24119dup (p.Phe8040dup)
|
rs1553568381 |
NM_001271208.2(NEB):c.24119_24120dup (p.Ser8041fs)
|
rs1553568357 |
NM_001271208.2(NEB):c.2415+2dup
|
rs1553567814 |
NM_001271208.2(NEB):c.24315_24317dup (p.Leu8106dup)
|
rs781667543 |
NM_001271208.2(NEB):c.24367_24369dup (p.Met8123dup)
|
rs769252768 |
NM_001271208.2(NEB):c.24398_24400dup (p.Ile8133dup)
|
rs780724946 |
NM_001271208.2(NEB):c.24408_24410dup (p.Leu8137dup)
|
rs1344099907 |
NM_001271208.2(NEB):c.24460_24462dup (p.Met8154dup)
|
rs942843328 |
NM_001271208.2(NEB):c.24480_24482dup (p.Gln8161_Glu8162insHis)
|
rs1372551649 |
NM_001271208.2(NEB):c.24491_24493dup (p.Ile8164dup)
|
rs767474018 |
NM_001271208.2(NEB):c.244A>G (p.Met82Val)
|
rs587780398 |
NM_001271208.2(NEB):c.24577_24579del (p.Glu8193del)
|
rs1553544463 |
NM_001271208.2(NEB):c.2459T>G (p.Phe820Cys)
|
rs200664592 |
NM_001271208.2(NEB):c.24614G>A (p.Gly8205Glu)
|
rs398124169 |
NM_001271208.2(NEB):c.24988_24990del (p.His8330del)
|
rs1553527955 |
NM_001271208.2(NEB):c.25059_25061GAA[1] (p.Lys8354del)
|
rs755822172 |
NM_001271208.2(NEB):c.25287_25292del (p.Arg8430_Ser8431del)
|
rs1553520388 |
NM_001271208.2(NEB):c.25319del (p.Gly8440fs)
|
rs1553520266 |
NM_001271208.2(NEB):c.25450_25452del (p.Ser8484del)
|
rs1553519071 |
NM_001271208.2(NEB):c.25510-1G>C
|
rs1553508368 |
NM_001271208.2(NEB):c.25534_25535insG (p.Tyr8512Ter)
|
rs1242654062 |
NM_001271208.2(NEB):c.25606G>T (p.Glu8536Ter)
|
rs1304300842 |
NM_001271208.2(NEB):c.25613G>A (p.Trp8538Ter)
|
rs1206080778 |
NM_001271208.2(NEB):c.25639_25640insTATGCACTGTGCAGAGGACTG (p.Gly8547_Arg8548insValCysThrValGlnArgThr)
|
rs1211056097 |
NM_001271208.2(NEB):c.25648G>T (p.Gly8550Ter)
|
rs776932788 |
NM_001271208.2(NEB):c.25649del (p.Gly8550fs)
|
rs1205824305 |
NM_001271208.2(NEB):c.2875_2877del (p.Cys959del)
|
rs766232587 |
NM_001271208.2(NEB):c.3218_3226dup (p.Ala1076_Lys1077insValArgAla)
|
rs1553539039 |
NM_001271208.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup)
|
rs1553539015 |
NM_001271208.2(NEB):c.3255+2dup
|
rs1276026682 |
NM_001271208.2(NEB):c.3352G>T (p.Ala1118Ser)
|
rs1225381477 |
NM_001271208.2(NEB):c.3545_3547del (p.Asn1182del)
|
rs1553534580 |
NM_001271208.2(NEB):c.3567+3_3567+6del
|
rs1553534336 |
NM_001271208.2(NEB):c.3676_3678AAG[1] (p.Lys1227del)
|
rs1553532187 |
NM_001271208.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del)
|
rs1553531184 |
NM_001271208.2(NEB):c.3795_3797AGA[1] (p.Glu1266del)
|
rs1553522046 |
NM_001271208.2(NEB):c.3874A>G (p.Ser1292Gly)
|
rs1553521537 |
NM_001271208.2(NEB):c.4337G>T (p.Gly1446Val)
|
rs541803470 |
NM_001271208.2(NEB):c.4471G>T (p.Val1491Leu)
|
rs7426114 |
NM_001271208.2(NEB):c.4664G>A (p.Arg1555Lys)
|
rs183333679 |
NM_001271208.2(NEB):c.47_49AAG[1] (p.Glu17del)
|
rs760256873 |
NM_001271208.2(NEB):c.5140_5142AAG[1] (p.Lys1715del)
|
rs1553492424 |
NM_001271208.2(NEB):c.5170_5172del (p.Lys1724del)
|
rs1553492107 |
NM_001271208.2(NEB):c.54_56dup (p.Val19dup)
|
rs1553702754 |
NM_001271208.2(NEB):c.5763+5G>A
|
rs776167256 |
NM_001271208.2(NEB):c.5939T>C (p.Leu1980Ser)
|
rs375412223 |
NM_001271208.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys)
|
rs1553687045 |
NM_001271208.2(NEB):c.6195_6200del (p.2063_2064KY[1])
|
rs767681176 |
NM_001271208.2(NEB):c.6598A>G (p.Ser2200Gly)
|
rs1553462412 |
NM_001271208.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del)
|
rs1209177139 |
NM_001271208.2(NEB):c.6956_6967del (p.His2319_Phe2322del)
|
rs1553449735 |
NM_001271208.2(NEB):c.7120_7122dup (p.Glu2374dup)
|
rs1553449134 |
NM_001271208.2(NEB):c.7135_7140del (p.Val2379_Asp2380del)
|
rs1326831435 |
NM_001271208.2(NEB):c.7549_7551del (p.Met2517del)
|
rs1553985641 |
NM_001271208.2(NEB):c.772G>A (p.Asp258Asn)
|
rs267598926 |
NM_001271208.2(NEB):c.7761G>C (p.Arg2587Ser)
|
rs869312958 |
NM_001271208.2(NEB):c.834_836AGA[1] (p.Glu279del)
|
rs1553642771 |
NM_001271208.2(NEB):c.8497_8499AAG[1] (p.Lys2834del)
|
rs764523437 |
NM_001271208.2(NEB):c.8880_8882del (p.Met2961del)
|
rs1553964000 |
NM_001271208.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del)
|
rs1165631470 |
NM_001271208.2(NEB):c.9819_9820insAGG (p.Val3274_Ile3275insArg)
|
rs1553934027 |
NM_004543.5(NEB):c.18826-1350_18826-1348dup
|
rs1553552449 |