NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)
|
rs374144275
|
0.00019
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter)
|
rs749421099
|
0.00007
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)
|
rs530569572
|
0.00006
|
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter)
|
rs776886962
|
0.00006
|
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)
|
rs139675596
|
0.00006
|
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)
|
rs755097302
|
0.00004
|
NM_001384732.1(CPLANE1):c.1A>G (p.Met1Val)
|
rs891693382
|
0.00004
|
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)
|
rs863225163
|
0.00004
|
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)
|
rs141507441
|
0.00004
|
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)
|
rs150242262
|
0.00004
|
NM_001384732.1(CPLANE1):c.2923C>T (p.Gln975Ter)
|
rs863225166
|
0.00003
|
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)
|
rs375009168
|
0.00003
|
NM_001384732.1(CPLANE1):c.8792+1G>T
|
rs886041757
|
0.00003
|
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys)
|
rs149170427
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)
|
rs367543063
|
0.00002
|
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)
|
rs200444162
|
0.00002
|
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)
|
rs766699868
|
0.00002
|
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)
|
rs147416429
|
0.00002
|
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs)
|
rs1327245073
|
0.00001
|
NM_001384732.1(CPLANE1):c.2422_2423del (p.Leu808fs)
|
rs1242532564
|
0.00001
|
NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter)
|
rs1285358729
|
0.00001
|
NM_001384732.1(CPLANE1):c.2932C>T (p.Arg978Ter)
|
rs1359437084
|
0.00001
|
NM_001384732.1(CPLANE1):c.3673-1G>C
|
rs886041688
|
0.00001
|
NM_001384732.1(CPLANE1):c.3805G>C (p.Ala1269Pro)
|
rs775914551
|
0.00001
|
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs)
|
rs1398880084
|
0.00001
|
NM_001384732.1(CPLANE1):c.6700C>T (p.Gln2234Ter)
|
rs1381740657
|
0.00001
|
NM_001384732.1(CPLANE1):c.709C>T (p.Gln237Ter)
|
rs957588958
|
0.00001
|
NM_001384732.1(CPLANE1):c.7588+7A>G
|
rs773662834
|
0.00001
|
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)
|
rs749523755
|
0.00001
|
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs)
|
rs1554064102
|
0.00001
|
NM_001384732.1(CPLANE1):c.8770G>T (p.Glu2924Ter)
|
rs863225155
|
0.00001
|
NM_001384732.1(CPLANE1):c.9017+1G>A
|
rs863225154
|
0.00001
|
NM_001384732.1(CPLANE1):c.9466C>T (p.Gln3156Ter)
|
rs774297305
|
0.00001
|
GRCh37/hg19 5p13.2(chr5:37142412-37148370)x1
|
|
|
GRCh37/hg19 5p13.2(chr5:37196421-37219882)x1
|
|
|
NC_000005.9:g.(?_37148263)_(37148390_?)del
|
|
|
NC_000005.9:g.(?_37187496)_(37187964_?)del
|
|
|
NC_000005.9:g.(?_37201673)_(37231171_?)dup
|
|
|
NM_001384732.1(CPLANE1):c.1041_1044dup (p.Thr349fs)
|
rs2150517916
|
|
NM_001384732.1(CPLANE1):c.1199_1200del (p.Arg400fs)
|
rs1432383285
|
|
NM_001384732.1(CPLANE1):c.1303_1304del (p.Met435fs)
|
|
|
NM_001384732.1(CPLANE1):c.1327del (p.Thr443fs)
|
|
|
NM_001384732.1(CPLANE1):c.1372-2A>G
|
rs886043786
|
|
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs)
|
rs1280425167
|
|
NM_001384732.1(CPLANE1):c.1396C>T (p.Arg466Ter)
|
|
|
NM_001384732.1(CPLANE1):c.1419_1420insTC (p.Leu475fs)
|
rs2150448548
|
|
NM_001384732.1(CPLANE1):c.1689_1690dup (p.Arg564fs)
|
|
|
NM_001384732.1(CPLANE1):c.1739G>A (p.Trp580Ter)
|
|
|
NM_001384732.1(CPLANE1):c.1780del (p.Met594fs)
|
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.1880C>G (p.Ser627Ter)
|
|
|
NM_001384732.1(CPLANE1):c.2045C>G (p.Ser682Ter)
|
rs1796506869
|
|
NM_001384732.1(CPLANE1):c.2243del (p.Phe748fs)
|
rs755887339
|
|
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter)
|
rs863225158
|
|
NM_001384732.1(CPLANE1):c.2291+2T>C
|
rs1051234664
|
|
NM_001384732.1(CPLANE1):c.2334G>A (p.Trp778Ter)
|
|
|
NM_001384732.1(CPLANE1):c.233G>T (p.Gly78Val)
|
rs1554117507
|
|
NM_001384732.1(CPLANE1):c.2426T>A (p.Leu809Ter)
|
rs2150399759
|
|
NM_001384732.1(CPLANE1):c.2528_2529del (p.Ser842_Tyr843insTer)
|
|
|
NM_001384732.1(CPLANE1):c.2556dup (p.Ala853fs)
|
rs1561655920
|
|
NM_001384732.1(CPLANE1):c.2616T>A (p.Tyr872Ter)
|
rs2150361736
|
|
NM_001384732.1(CPLANE1):c.2743dup (p.Ser915fs)
|
rs1795316019
|
|
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs)
|
rs1305821156
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
NM_001384732.1(CPLANE1):c.3012T>A (p.Tyr1004Ter)
|
|
|
NM_001384732.1(CPLANE1):c.3030_3033del (p.Phe1010fs)
|
rs2150128983
|
|
NM_001384732.1(CPLANE1):c.3074_3077dup (p.Asp1027fs)
|
|
|
NM_001384732.1(CPLANE1):c.3094_3095del (p.Val1032fs)
|
|
|
NM_001384732.1(CPLANE1):c.3115C>T (p.Gln1039Ter)
|
|
|
NM_001384732.1(CPLANE1):c.3150-1G>T
|
rs606231258
|
|
NM_001384732.1(CPLANE1):c.3204dup (p.Gln1069fs)
|
rs2150117334
|
|
NM_001384732.1(CPLANE1):c.3380C>A (p.Ser1127Ter)
|
rs375009168
|
|
NM_001384732.1(CPLANE1):c.3407_3408del (p.Ser1136fs)
|
rs1228082731
|
|
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs)
|
rs1561584225
|
|
NM_001384732.1(CPLANE1):c.3545del (p.Asn1182fs)
|
rs769153428
|
|
NM_001384732.1(CPLANE1):c.3550C>T (p.Arg1184Cys)
|
|
|
NM_001384732.1(CPLANE1):c.3551G>A (p.Arg1184His)
|
|
|
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu)
|
rs141153181
|
|
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val)
|
rs141153181
|
|
NM_001384732.1(CPLANE1):c.3604C>T (p.Gln1202Ter)
|
rs750256343
|
|
NM_001384732.1(CPLANE1):c.3630_3631del (p.Trp1210_Tyr1211delinsTer)
|
|
|
NM_001384732.1(CPLANE1):c.3640C>T (p.Gln1214Ter)
|
|
|
NM_001384732.1(CPLANE1):c.3829dup (p.Cys1277fs)
|
rs1784470848
|
|
NM_001384732.1(CPLANE1):c.3895del (p.Ala1299fs)
|
|
|
NM_001384732.1(CPLANE1):c.3906_3912del (p.Asn1302fs)
|
rs1291258464
|
|
NM_001384732.1(CPLANE1):c.3928G>T (p.Glu1310Ter)
|
rs1408467437
|
|
NM_001384732.1(CPLANE1):c.4258A>T (p.Lys1420Ter)
|
|
|
NM_001384732.1(CPLANE1):c.4803del (p.Lys1601fs)
|
|
|
NM_001384732.1(CPLANE1):c.4890dup (p.Ser1631fs)
|
rs1554083251
|
|
NM_001384732.1(CPLANE1):c.4976del (p.Pro1659fs)
|
|
|
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs)
|
rs779680371
|
|
NM_001384732.1(CPLANE1):c.5259G>A (p.Trp1753Ter)
|
|
|
NM_001384732.1(CPLANE1):c.5266del (p.Arg1756fs)
|
rs2151146681
|
|
NM_001384732.1(CPLANE1):c.5366G>A (p.Trp1789Ter)
|
|
|
NM_001384732.1(CPLANE1):c.5594dup (p.Asn1865fs)
|
rs990257446
|
|
NM_001384732.1(CPLANE1):c.5629del (p.Ser1877fs)
|
rs2151099353
|
|
NM_001384732.1(CPLANE1):c.57G>A (p.Trp19Ter)
|
rs886041966
|
|
NM_001384732.1(CPLANE1):c.5833G>T (p.Glu1945Ter)
|
rs761502897
|
|
NM_001384732.1(CPLANE1):c.5872dup (p.Met1958fs)
|
|
|
NM_001384732.1(CPLANE1):c.5885C>A (p.Ser1962Ter)
|
|
|
NM_001384732.1(CPLANE1):c.5893del (p.Gln1965fs)
|
|
|
NM_001384732.1(CPLANE1):c.6094G>T (p.Glu2032Ter)
|
|
|
NM_001384732.1(CPLANE1):c.6269_6270del (p.Val2090fs)
|
rs768675259
|
|
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs)
|
rs1188561908
|
|
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs)
|
rs747815682
|
|
NM_001384732.1(CPLANE1):c.6519dup (p.Gly2174fs)
|
|
|
NM_001384732.1(CPLANE1):c.651G>A (p.Trp217Ter)
|
|
|
NM_001384732.1(CPLANE1):c.6556del (p.Ser2186fs)
|
rs2150940890
|
|
NM_001384732.1(CPLANE1):c.6557C>A (p.Ser2186Ter)
|
|
|
NM_001384732.1(CPLANE1):c.677+2T>C
|
rs886041870
|
|
NM_001384732.1(CPLANE1):c.6955C>T (p.Gln2319Ter)
|
|
|
NM_001384732.1(CPLANE1):c.6998_7005del (p.Ser2333fs)
|
|
|
NM_001384732.1(CPLANE1):c.702G>A (p.Trp234Ter)
|
rs1554114025
|
|
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs)
|
rs1779035528
|
|
NM_001384732.1(CPLANE1):c.7079del (p.Pro2360fs)
|
rs1085307795
|
|
NM_001384732.1(CPLANE1):c.7320del (p.Gly2441fs)
|
rs2150897800
|
|
NM_001384732.1(CPLANE1):c.7399del (p.Arg2467fs)
|
rs779025515
|
|
NM_001384732.1(CPLANE1):c.7402C>T (p.Gln2468Ter)
|
rs2150870227
|
|
NM_001384732.1(CPLANE1):c.7466del (p.Asn2489fs)
|
rs2150869096
|
|
NM_001384732.1(CPLANE1):c.7662_7666del (p.Ser2554fs)
|
|
|
NM_001384732.1(CPLANE1):c.7738_7739del (p.Leu2580fs)
|
|
|
NM_001384732.1(CPLANE1):c.7747A>T (p.Lys2583Ter)
|
|
|
NM_001384732.1(CPLANE1):c.7990_7991del (p.Pro2664fs)
|
rs1554068790
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
NM_001384732.1(CPLANE1):c.8402_8406del (p.Ser2801fs)
|
|
|
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs)
|
rs775263897
|
|
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs)
|
rs775263897
|
|
NM_001384732.1(CPLANE1):c.8491dup (p.Asp2831fs)
|
rs2150407470
|
|
NM_001384732.1(CPLANE1):c.8568_8569del (p.Phe2857fs)
|
rs753008073
|
|
NM_001384732.1(CPLANE1):c.8633-1G>C
|
rs1561376123
|
|
NM_001384732.1(CPLANE1):c.8672_8678delinsAT (p.Val2891fs)
|
rs1064796131
|
|
NM_001384732.1(CPLANE1):c.8692G>T (p.Gly2898Ter)
|
|
|
NM_001384732.1(CPLANE1):c.88G>T (p.Glu30Ter)
|
rs932952740
|
|
NM_001384732.1(CPLANE1):c.8959-2A>G
|
|
|
NM_001384732.1(CPLANE1):c.8992C>T (p.Gln2998Ter)
|
rs1234849009
|
|
NM_001384732.1(CPLANE1):c.8996del (p.Lys2999fs)
|
rs1554050342
|
|
NM_001384732.1(CPLANE1):c.9012_9015delAGAC (p.Arg3006fs)
|
|
|
NM_001384732.1(CPLANE1):c.907_908del (p.Lys303fs)
|
rs1187142382
|
|
NM_001384732.1(CPLANE1):c.9085del (p.Ser3029fs)
|
rs794727691
|
|
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
|
|
|
NM_001384732.1(CPLANE1):c.9339dup (p.Ala3114fs)
|
rs1760511597
|
|
NM_001384732.1(CPLANE1):c.9376C>T (p.Gln3126Ter)
|
rs759580516
|
|
NM_001384732.1(CPLANE1):c.9560del (p.Ser3187fs)
|
rs2149857098
|
|