ClinVar Miner

List of variants in gene ALK studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 408
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HGVS dbSNP gnomAD frequency
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) rs1670283 0.99030
NM_004304.5(ALK):c.4164+223A>G rs1728826 0.98574
NM_004304.5(ALK):c.1648-162C>T rs4666194 0.90000
NM_004304.5(ALK):c.1912+58T>C rs4589708 0.89116
NM_004304.5(ALK):c.27C>G (p.Leu9=) rs4358080 0.88526
NM_004304.5(ALK):c.1500A>G (p.Gln500=) rs2293564 0.79300
NM_004304.5(ALK):c.3938+149C>T rs4666178 0.78604
NM_004304.5(ALK):c.1817+132G>A rs2272409 0.73067
NM_004304.5(ALK):c.1155-8718A>C rs4322800 0.65911
NM_004304.5(ALK):c.2535T>C (p.Gly845=) rs2256740 0.63034
NM_004304.5(ALK):c.2632+154G>A rs12714270 0.62454
NM_004304.5(ALK):c.668-257G>A rs2270353 0.61654
NM_004304.5(ALK):c.2815+239G>C rs11687789 0.61198
NM_004304.5(ALK):c.1647+66G>A rs2276549 0.57921
NM_004304.5(ALK):c.4164+45C>A rs1670284 0.50947
NM_004304.5(ALK):c.3646-235A>G rs1630306 0.50801
NM_004304.5(ALK):c.3743+217C>A rs1625283 0.48924
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) rs1881421 0.47503
NM_004304.5(ALK):c.3173-307A>G rs12619049 0.40467
NM_004304.5(ALK):c.3938+295_3938+296insAA rs10623528 0.39946
NM_004304.5(ALK):c.3744-238G>A rs6748797 0.39736
NM_004304.5(ALK):c.3359+226C>G rs11689436 0.37353
NM_004304.5(ALK):c.1155-8502A>C rs55731984 0.30910
NM_004304.5(ALK):c.3067+262G>A rs1881419 0.28413
NM_004304.5(ALK):c.3375C>A (p.Gly1125=) rs3795850 0.27292
NM_004304.5(ALK):c.3359+24G>C rs2276550 0.26990
NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg) rs1881420 0.26767
NM_004304.5(ALK):c.3645+199C>T rs4665446 0.26644
NM_004304.5(ALK):c.1155-8508A>G rs4322799 0.25712
NM_004304.5(ALK):c.4073+93G>A rs3738870 0.25522
NM_004304.5(ALK):c.*61_*64dup rs397706189 0.25265
NM_004304.5(ALK):c.3359+6C>T rs4622670 0.24182
NM_004304.5(ALK):c.3068-329G>A rs34935102 0.22235
NM_004304.5(ALK):c.4165-6C>T rs17007646 0.20768
NM_004304.5(ALK):c.2355+141T>C rs13397113 0.19336
NM_004304.5(ALK):c.3036G>A (p.Thr1012=) rs2293563 0.17851
NM_004304.5(ALK):c.1414+55C>T rs62130643 0.17057
NM_004304.5(ALK):c.2816-146C>T rs35787487 0.15742
NM_004304.5(ALK):c.1283-146C>G rs4549035 0.13129
NM_004304.5(ALK):c.1154+60A>G rs11689790 0.12819
NM_004304.5(ALK):c.952+192C>A rs13419205 0.11700
NM_004304.5(ALK):c.3359+80T>C rs12989497 0.11538
NM_004304.5(ALK):c.4338C>T (p.Thr1446=) rs56132472 0.10831
NM_004304.5(ALK):c.1282+296T>G rs6755127 0.10701
NM_004304.5(ALK):c.3744-32A>G rs3738867 0.09608
NM_004304.5(ALK):c.2633-54G>A rs62130588 0.09531
NM_004304.5(ALK):c.2355+26C>T rs77855517 0.08361
NM_004304.5(ALK):c.1155-99C>T rs4499385 0.07878
NM_004304.5(ALK):c.2355+248A>T rs78743580 0.07710
NM_004304.5(ALK):c.1647+178A>G rs10189673 0.07231
NM_004304.5(ALK):c.1647+336C>T rs10197663 0.07229
NM_004304.5(ALK):c.2487+47A>G rs77684724 0.06696
NM_004304.5(ALK):c.1546+103G>A rs12151564 0.06571
NM_004304.5(ALK):c.2356-320A>G rs78287501 0.06424
NM_004304.5(ALK):c.2356-304_2356-303insC rs147039589 0.06410
NM_004304.5(ALK):c.2487+46C>T rs76630156 0.06267
NM_004304.5(ALK):c.4164+163T>C rs17007666 0.06161
NM_004304.5(ALK):c.1155-8694G>T rs4525647 0.05730
NM_004304.5(ALK):c.2487+251A>T rs79309332 0.05363
NM_004304.5(ALK):c.1817+123G>A rs78817793 0.05333
NM_004304.5(ALK):c.2204+212A>G rs7581939 0.05307
NM_004304.5(ALK):c.2204+120C>A rs78124972 0.05001
NM_004304.5(ALK):c.3515+97G>A rs72852030 0.03970
NM_004304.5(ALK):c.1283-47T>A rs11901987 0.02987
NM_004304.5(ALK):c.1283-49C>T rs11885503 0.02986
NM_004304.5(ALK):c.3173-147T>A rs76146270 0.02943
NM_004304.5(ALK):c.3645+188G>A rs77835003 0.02922
NM_004304.5(ALK):c.3836+248C>T rs113989944 0.02786
NM_004304.5(ALK):c.3408C>T (p.Ser1136=) rs56146053 0.02769
NM_004304.5(ALK):c.*53G>C rs80088378 0.02692
NM_004304.5(ALK):c.1427T>C (p.Val476Ala) rs35093491 0.02566
NM_004304.5(ALK):c.3837-327T>C rs6754837 0.02528
NM_004304.5(ALK):c.4164+198A>G rs10202491 0.02519
NM_004304.5(ALK):c.788-193A>G rs75549758 0.01970
NM_004304.5(ALK):c.3837-293A>G rs80098307 0.01953
NM_004304.5(ALK):c.4165-112C>A rs76728108 0.01903
NM_004304.5(ALK):c.1282+164G>A rs13428230 0.01893
NM_004304.5(ALK):c.4596C>T (p.Asn1532=) rs1881422 0.01874
NM_004304.5(ALK):c.1282+121G>A rs114485452 0.01819
NM_004304.5(ALK):c.*111C>T rs74669215 0.01748
NM_004304.5(ALK):c.*63A>G rs182561050 0.01679
NM_004304.5(ALK):c.4165-237C>G rs76119545 0.01622
NM_004304.5(ALK):c.953-21G>A rs62131079 0.01601
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_004304.5(ALK):c.1817+39A>G rs78066015 0.01538
NM_004304.5(ALK):c.667+99C>T rs140542591 0.01538
NM_004304.5(ALK):c.667+119C>T rs114330016 0.01537
NM_004304.5(ALK):c.3939-197G>C rs62130563 0.01525
NM_004304.5(ALK):c.3359+165G>T rs78365742 0.01498
NM_004304.5(ALK):c.1547-29G>A rs144545604 0.01472
NM_004304.5(ALK):c.2632+179C>T rs115666889 0.01417
NM_004304.5(ALK):c.-5G>A rs56270786 0.01336
NM_004304.5(ALK):c.2914+67A>T rs77289834 0.01306
NM_004304.5(ALK):c.2816-67C>T rs80250630 0.01259
NM_004304.5(ALK):c.3836+175G>A rs75750780 0.01197
NM_004304.5(ALK):c.-273G>C rs72857538 0.01192
NM_004304.5(ALK):c.3938+273A>G rs79349452 0.01107
NM_004304.5(ALK):c.1818-206G>A rs114523409 0.01101
NM_004304.5(ALK):c.787+112T>C rs116369425 0.01046
NM_004304.5(ALK):c.2204+135G>T rs116695535 0.00924
NM_004304.5(ALK):c.2042-35C>T rs13413612 0.00844
NM_004304.5(ALK):c.3646-148A>G rs115332650 0.00822
NM_004304.5(ALK):c.2633-83G>A rs73920741 0.00797
NM_004304.5(ALK):c.1647+95T>A rs73920775 0.00722
NM_004304.5(ALK):c.3172+300C>G rs73920736 0.00710
NM_004304.5(ALK):c.1818-193G>A rs73920766 0.00672
NM_004304.5(ALK):c.1415-26A>G rs115117646 0.00657
NM_004304.5(ALK):c.2133C>T (p.Ser711=) rs77102810 0.00647
NM_004304.5(ALK):c.4164+171T>C rs10199947 0.00638
NM_004304.5(ALK):c.3646-126C>T rs114194052 0.00623
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_004304.5(ALK):c.667+236T>A rs151284880 0.00602
NM_004304.5(ALK):c.1282+250T>C rs115557048 0.00600
NM_004304.5(ALK):c.2041+110T>A rs115762671 0.00594
NM_004304.5(ALK):c.267C>A (p.Gly89=) rs192127241 0.00557
NM_004304.5(ALK):c.2204+125G>A rs80031559 0.00520
NM_004304.5(ALK):c.3068-228A>T rs114110162 0.00443
NM_004304.5(ALK):c.3068-225C>A rs184052100 0.00441
NM_004304.5(ALK):c.2915-242C>T rs10166470 0.00436
NM_004304.5(ALK):c.788-105A>G rs144342287 0.00426
NM_004304.5(ALK):c.1414+62C>T rs111236214 0.00404
NM_004304.5(ALK):c.3938+57C>T rs111505977 0.00378
NM_004304.5(ALK):c.3516-25G>C rs146360301 0.00377
NM_004304.5(ALK):c.2268C>T (p.Gly756=) rs149853746 0.00304
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155 0.00279
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) rs116202066 0.00232
NM_004304.5(ALK):c.1110G>A (p.Glu370=) rs138784554 0.00195
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_004304.5(ALK):c.2676C>T (p.Ala892=) rs138668699 0.00164
NM_004304.5(ALK):c.3516-48C>A rs80152976 0.00158
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405 0.00104
NM_004304.5(ALK):c.776G>A (p.Arg259His) rs138686378 0.00096
NM_004304.5(ALK):c.2613C>T (p.Asn871=) rs150557024 0.00093
NM_004304.5(ALK):c.4796C>A (p.Pro1599His) rs1881423 0.00091
NM_004304.5(ALK):c.2430C>T (p.Ser810=) rs150292405 0.00086
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_004304.5(ALK):c.-415T>C rs755231246 0.00057
NM_004304.5(ALK):c.469C>T (p.Pro157Ser) rs74774946 0.00055
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu) rs140733978 0.00054
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys) rs56181542 0.00046
NM_004304.5(ALK):c.106C>T (p.Pro36Ser) rs201490095 0.00045
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_004304.5(ALK):c.1755C>T (p.Ala585=) rs373605278 0.00032
NM_004304.5(ALK):c.2526C>T (p.Ala842=) rs145271283 0.00029
NM_004304.5(ALK):c.3102G>A (p.Ser1034=) rs138771319 0.00029
NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr) rs201768549 0.00028
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile) rs199646095 0.00027
NM_004304.5(ALK):c.310C>T (p.Pro104Ser) rs576431612 0.00026
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp) rs771475772 0.00024
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg) rs144030155 0.00023
NM_004304.5(ALK):c.3291C>T (p.Cys1097=) rs370170353 0.00022
NM_004304.5(ALK):c.3035C>T (p.Thr1012Met) rs35073634 0.00021
NM_004304.5(ALK):c.3633C>A (p.Thr1211=) rs144437923 0.00021
NM_004304.5(ALK):c.1148A>T (p.Lys383Met) rs140928266 0.00020
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) rs147858673 0.00016
NM_004304.5(ALK):c.2478C>T (p.Tyr826=) rs142126984 0.00016
NM_004304.5(ALK):c.2554A>G (p.Lys852Glu) rs371441614 0.00016
NM_004304.5(ALK):c.2229C>T (p.Gly743=) rs111253753 0.00015
NM_004304.5(ALK):c.4275G>A (p.Leu1425=) rs749418931 0.00015
NM_004304.5(ALK):c.4193C>T (p.Pro1398Leu) rs531490912 0.00014
NM_004304.5(ALK):c.470C>T (p.Pro157Leu) rs775385954 0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_004304.5(ALK):c.1283-5T>C rs377214413 0.00012
NM_004304.5(ALK):c.1918G>A (p.Gly640Arg) rs144453491 0.00012
NM_004304.5(ALK):c.597C>T (p.Gly199=) rs200868013 0.00012
NM_004304.5(ALK):c.692C>G (p.Thr231Arg) rs142120301 0.00012
NM_004304.5(ALK):c.1648-10G>A rs375646347 0.00011
NM_004304.5(ALK):c.3599C>T (p.Ala1200Val) rs200585833 0.00011
NM_004304.5(ALK):c.808T>C (p.Phe270Leu) rs143229596 0.00011
NM_004304.5(ALK):c.3692G>A (p.Arg1231Gln) rs200110351 0.00010
NM_004304.5(ALK):c.1128C>T (p.Leu376=) rs200396075 0.00009
NM_004304.5(ALK):c.1390G>A (p.Gly464Arg) rs55706535 0.00009
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546 0.00008
NM_004304.5(ALK):c.2275G>A (p.Val759Met) rs199691702 0.00008
NM_004304.5(ALK):c.2504C>T (p.Pro835Leu) rs376091121 0.00008
NM_004304.5(ALK):c.3133G>A (p.Val1045Met) rs200641396 0.00008
NM_004304.5(ALK):c.3179G>A (p.Arg1060His) rs769322016 0.00008
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp) rs55760835 0.00008
NM_004304.5(ALK):c.2623G>A (p.Gly875Arg) rs148001139 0.00007
NM_004304.5(ALK):c.3115G>A (p.Val1039Met) rs200080181 0.00007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser) rs375889530 0.00007
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln) rs72852032 0.00007
NM_004304.5(ALK):c.4473G>A (p.Lys1491=) rs148987382 0.00007
NM_004304.5(ALK):c.1184G>A (p.Arg395His) rs769910087 0.00006
NM_004304.5(ALK):c.1235G>A (p.Arg412His) rs1388736375 0.00006
NM_004304.5(ALK):c.3409G>A (p.Gly1137Arg) rs762571775 0.00006
NM_004304.5(ALK):c.760C>T (p.Pro254Ser) rs774815140 0.00006
NM_004304.5(ALK):c.1107C>T (p.Asn369=) rs114429299 0.00005
NM_004304.5(ALK):c.1689C>T (p.Asn563=) rs565743321 0.00005
NM_004304.5(ALK):c.206G>A (p.Arg69Gln) rs769061878 0.00005
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln) rs199987354 0.00005
NM_004304.5(ALK):c.3453G>A (p.Thr1151=) rs145061595 0.00005
NM_004304.5(ALK):c.350C>G (p.Pro117Arg) rs201290745 0.00005
NM_004304.5(ALK):c.1045G>A (p.Val349Ile) rs370848188 0.00004
NM_004304.5(ALK):c.1270A>G (p.Asn424Asp) rs771340984 0.00004
NM_004304.5(ALK):c.1670G>A (p.Arg557His) rs200468507 0.00004
NM_004304.5(ALK):c.1787T>C (p.Met596Thr) rs754810505 0.00004
NM_004304.5(ALK):c.2258G>A (p.Arg753Gln) rs187200776 0.00004
NM_004304.5(ALK):c.32C>T (p.Pro11Leu) rs767822322 0.00004
NM_004304.5(ALK):c.3645G>A (p.Pro1215=) rs775768862 0.00004
NM_004304.5(ALK):c.4238T>G (p.Val1413Gly) rs779318085 0.00004
NM_004304.5(ALK):c.4433T>C (p.Met1478Thr) rs141010693 0.00004
NM_004304.5(ALK):c.4656G>A (p.Gly1552=) rs952457982 0.00004
NM_004304.5(ALK):c.4738G>A (p.Gly1580Arg) rs370947313 0.00004
NM_004304.5(ALK):c.640C>T (p.Arg214Cys) rs370297427 0.00004
NM_004304.5(ALK):c.119C>T (p.Pro40Leu) rs200212200 0.00003
NM_004304.5(ALK):c.2548G>A (p.Gly850Arg) rs200563480 0.00003
NM_004304.5(ALK):c.255C>T (p.Pro85=) rs372277804 0.00003
NM_004304.5(ALK):c.298A>G (p.Arg100Gly) rs764559656 0.00003
NM_004304.5(ALK):c.3210G>A (p.Gln1070=) rs138178848 0.00003
NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter) rs145028315 0.00003
NM_004304.5(ALK):c.3849T>C (p.Tyr1283=) rs960416635 0.00003
NM_004304.5(ALK):c.4425C>T (p.His1475=) rs139039449 0.00003
NM_004304.5(ALK):c.4481G>A (p.Gly1494Glu) rs368484630 0.00003
NM_004304.5(ALK):c.4537G>A (p.Glu1513Lys) rs374733353 0.00003
NM_004304.5(ALK):c.2654A>G (p.Asp885Gly) rs745406091 0.00002
NM_004304.5(ALK):c.2770G>C (p.Gly924Arg) rs78086548 0.00002
NM_004304.5(ALK):c.4211T>C (p.Leu1404Pro) rs377129811 0.00002
NM_004304.5(ALK):c.4406C>T (p.Pro1469Leu) rs758625575 0.00002
NM_004304.5(ALK):c.4480G>A (p.Gly1494Arg) rs199940609 0.00002
NM_004304.5(ALK):c.4723C>T (p.Arg1575Cys) rs148351049 0.00002
NM_004304.5(ALK):c.4748A>G (p.Asn1583Ser) rs751677905 0.00002
NM_004304.5(ALK):c.871C>T (p.Arg291Cys) rs748854412 0.00002
NM_004304.5(ALK):c.924G>A (p.Gly308=) rs878854660 0.00002
NM_004304.5(ALK):c.1007C>T (p.Pro336Leu) rs1450440625 0.00001
NM_004304.5(ALK):c.1043C>A (p.Ala348Asp) rs760596486 0.00001
NM_004304.5(ALK):c.1114G>A (p.Ala372Thr) rs753549939 0.00001
NM_004304.5(ALK):c.1180G>A (p.Gly394Arg) rs775514690 0.00001
NM_004304.5(ALK):c.1215A>T (p.Glu405Asp) rs370235133 0.00001
NM_004304.5(ALK):c.1311G>A (p.Leu437=) rs757241673 0.00001
NM_004304.5(ALK):c.131T>G (p.Leu44Arg) rs1304641292 0.00001
NM_004304.5(ALK):c.140C>T (p.Ser47Leu) rs541315214 0.00001
NM_004304.5(ALK):c.149A>G (p.Gln50Arg) rs1060500222 0.00001
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg) rs762358335 0.00001
NM_004304.5(ALK):c.1725G>C (p.Lys575Asn) rs1010580453 0.00001
NM_004304.5(ALK):c.1753G>A (p.Ala585Thr) rs772496459 0.00001
NM_004304.5(ALK):c.1756G>A (p.Ala586Thr) rs75158395 0.00001
NM_004304.5(ALK):c.1803del (p.Asp602fs) rs926903893 0.00001
NM_004304.5(ALK):c.202G>T (p.Ala68Ser) rs1414978905 0.00001
NM_004304.5(ALK):c.2041+4A>G rs1172214438 0.00001
NM_004304.5(ALK):c.2110G>A (p.Ala704Thr) rs34829159 0.00001
NM_004304.5(ALK):c.2269G>A (p.Val757Met) rs371005946 0.00001
NM_004304.5(ALK):c.2457A>G (p.Gly819=) rs147842434 0.00001
NM_004304.5(ALK):c.2597C>T (p.Ser866Leu) rs528844155 0.00001
NM_004304.5(ALK):c.2710C>T (p.His904Tyr) rs1474942302 0.00001
NM_004304.5(ALK):c.2736G>A (p.Lys912=) rs1489025810 0.00001
NM_004304.5(ALK):c.2822A>G (p.Asn941Ser) rs368654781 0.00001
NM_004304.5(ALK):c.3095C>T (p.Pro1032Leu) rs752256731 0.00001
NM_004304.5(ALK):c.3135G>A (p.Val1045=) rs371735276 0.00001
NM_004304.5(ALK):c.3173T>C (p.Val1058Ala) rs772708400 0.00001
NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr) rs754163075 0.00001
NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile) rs113994090 0.00001
NM_004304.5(ALK):c.3313A>G (p.Ile1105Val) rs1426033956 0.00001
NM_004304.5(ALK):c.3459T>A (p.Pro1153=) rs1402836708 0.00001
NM_004304.5(ALK):c.3548T>C (p.Ile1183Thr) rs1002995598 0.00001
NM_004304.5(ALK):c.3626G>A (p.Arg1209Gln) rs747643140 0.00001
NM_004304.5(ALK):c.3839C>T (p.Ala1280Val) rs74716434 0.00001
NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn) rs761459938 0.00001
NM_004304.5(ALK):c.3958T>C (p.Trp1320Arg) rs779796155 0.00001
NM_004304.5(ALK):c.4015C>G (p.Leu1339Val) rs1416439647 0.00001
NM_004304.5(ALK):c.4226A>G (p.Glu1409Gly) rs1286165795 0.00001
NM_004304.5(ALK):c.4248G>T (p.Lys1416Asn) rs55782189 0.00001
NM_004304.5(ALK):c.434T>C (p.Leu145Pro) rs1305698643 0.00001
NM_004304.5(ALK):c.4632C>A (p.Asn1544Lys) rs763403897 0.00001
NM_004304.5(ALK):c.4658C>G (p.Ala1553Gly) rs1553386898 0.00001
NM_004304.5(ALK):c.4685T>G (p.Leu1562Arg) rs974930400 0.00001
NM_004304.5(ALK):c.4752C>T (p.Tyr1584=) rs758556216 0.00001
NM_004304.5(ALK):c.522C>A (p.Phe174Leu) rs587778020 0.00001
NM_004304.5(ALK):c.630C>G (p.Ala210=) rs1337002578 0.00001
NM_004304.5(ALK):c.655A>G (p.Ile219Val) rs886055932 0.00001
NM_004304.5(ALK):c.775C>T (p.Arg259Cys) rs771593278 0.00001
NM_004304.5(ALK):c.846C>T (p.Asp282=) rs56116528 0.00001
NM_004304.5(ALK):c.94C>G (p.Pro32Ala) rs573276657 0.00001
GRCh37/hg19 2p23.1(chr2:30063188-30290288)x3
GRCh37/hg19 2p23.2(chr2:29428149-29486280)x1
GRCh37/hg19 2p23.2(chr2:29958097-29961205)x1
GRCh37/hg19 2p23.2(chr2:29958097-29962732)x1
NM_004304.5(ALK):c.-151G>A rs73922108
NM_004304.5(ALK):c.-156G>T rs141444957
NM_004304.5(ALK):c.107C>A (p.Pro36Gln) rs773691688
NM_004304.5(ALK):c.1154+1G>A rs766100418
NM_004304.5(ALK):c.1155-8708C>A rs13415294
NM_004304.5(ALK):c.1223C>G (p.Ser408Cys) rs1348960950
NM_004304.5(ALK):c.1229G>A (p.Gly410Glu) rs760717114
NM_004304.5(ALK):c.1361C>T (p.Ala454Val) rs766818130
NM_004304.5(ALK):c.1414+2T>G
NM_004304.5(ALK):c.1432T>A (p.Phe478Ile) rs1667016994
NM_004304.5(ALK):c.1489C>T (p.His497Tyr) rs2148250941
NM_004304.5(ALK):c.1507G>A (p.Val503Ile) rs1229156257
NM_004304.5(ALK):c.151A>G (p.Arg51Gly) rs904831964
NM_004304.5(ALK):c.1547-166del rs71403658
NM_004304.5(ALK):c.1547-167_1547-166del rs71403658
NM_004304.5(ALK):c.1574A>G (p.Asp525Gly) rs1666896402
NM_004304.5(ALK):c.1614G>A (p.Thr538=) rs374205057
NM_004304.5(ALK):c.1635C>G (p.Ser545Arg) rs1666893501
NM_004304.5(ALK):c.1719C>A (p.Thr573=) rs74830770
NM_004304.5(ALK):c.1766G>C (p.Gly589Ala) rs769505453
NM_004304.5(ALK):c.1817+148AC[10] rs3054024
NM_004304.5(ALK):c.1817+148AC[11] rs3054024
NM_004304.5(ALK):c.1817+148AC[12] rs3054024
NM_004304.5(ALK):c.1817+279G>T rs13406263
NM_004304.5(ALK):c.1834G>A (p.Val612Ile) rs1431784023
NM_004304.5(ALK):c.1842G>C (p.Trp614Cys)
NM_004304.5(ALK):c.1867G>T (p.Val623Leu)
NM_004304.5(ALK):c.1912+83_1912+86del rs113955793
NM_004304.5(ALK):c.2073C>G (p.Ser691Arg) rs370435082
NM_004304.5(ALK):c.2122T>G (p.Ser708Ala)
NM_004304.5(ALK):c.2155C>T (p.Pro719Ser) rs759652463
NM_004304.5(ALK):c.2204+45G>A rs13405107
NM_004304.5(ALK):c.2355+275C>T rs74535085
NM_004304.5(ALK):c.2355+276C>T rs76788680
NM_004304.5(ALK):c.2453G>A (p.Gly818Glu)
NM_004304.5(ALK):c.2487+240dup rs576884153
NM_004304.5(ALK):c.2488-165A>G rs76337448
NM_004304.5(ALK):c.2488-2A>G
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) rs61754865
NM_004304.5(ALK):c.2632+268_2632+269insTGGGTTTTACCAACT rs6146693
NM_004304.5(ALK):c.2633-306G>C rs62130589
NM_004304.5(ALK):c.2762T>G (p.Phe921Cys) rs1170626086
NM_004304.5(ALK):c.2763C>G (p.Phe921Leu) rs201042802
NM_004304.5(ALK):c.2769G>A (p.Gly923=) rs75434768
NM_004304.5(ALK):c.2815+74_2815+75insGCCCC rs141563891
NM_004304.5(ALK):c.2816-7T>C rs755251438
NM_004304.5(ALK):c.2824G>A (p.Ala942Thr) rs1664046731
NM_004304.5(ALK):c.2841C>G (p.Asp947Glu)
NM_004304.5(ALK):c.2901C>A (p.Thr967=) rs886055930
NM_004304.5(ALK):c.2914+140_2914+149del rs11278557
NM_004304.5(ALK):c.2914+57C>T rs114991822
NM_004304.5(ALK):c.2979C>A (p.Asp993Glu) rs761999849
NM_004304.5(ALK):c.3067+26A>G
NM_004304.5(ALK):c.3067+514C>A
NM_004304.5(ALK):c.3067+89C>G
NM_004304.5(ALK):c.3067+91G>A
NM_004304.5(ALK):c.3068-241G>T rs72852040
NM_004304.5(ALK):c.3068-360_3068-357del
NM_004304.5(ALK):c.3068-43A>G
NM_004304.5(ALK):c.3068-504C>T
NM_004304.5(ALK):c.3089A>C (p.His1030Pro) rs200992945
NM_004304.5(ALK):c.3115G>C (p.Val1039Leu) rs200080181
NM_004304.5(ALK):c.3137C>T (p.Ala1046Val)
NM_004304.5(ALK):c.3172+347G>A
NM_004304.5(ALK):c.3172+549T>C
NM_004304.5(ALK):c.3172+678C>T
NM_004304.5(ALK):c.3172+722A>G
NM_004304.5(ALK):c.3173-662del
NM_004304.5(ALK):c.3173-791C>A
NM_004304.5(ALK):c.3240G>A (p.Leu1080=) rs760768939
NM_004304.5(ALK):c.3380T>C (p.Phe1127Ser)
NM_004304.5(ALK):c.3420C>T (p.Asn1140=) rs150785816
NM_004304.5(ALK):c.3458C>G (p.Pro1153Arg) rs917295547
NM_004304.5(ALK):c.3479A>G (p.Asp1160Gly)
NM_004304.5(ALK):c.3515+53C>G rs76002034
NM_004304.5(ALK):c.3530A>C (p.Gln1177Pro) rs1060500229
NM_004304.5(ALK):c.355G>A (p.Glu119Lys) rs1572503350
NM_004304.5(ALK):c.3600G>A (p.Ala1200=) rs56247462
NM_004304.5(ALK):c.3600G>C (p.Ala1200=) rs56247462
NM_004304.5(ALK):c.3646-3C>T rs1060500208
NM_004304.5(ALK):c.3654C>T (p.Pro1218=)
NM_004304.5(ALK):c.3684C>G (p.His1228Gln) rs763332339
NM_004304.5(ALK):c.3704G>A (p.Cys1235Tyr) rs2148159392
NM_004304.5(ALK):c.3744-2A>G rs2148155402
NM_004304.5(ALK):c.3766C>T (p.Leu1256Phe)
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004304.5(ALK):c.3836+223dup rs76343130
NM_004304.5(ALK):c.3836+234_3836+243del rs76343130
NM_004304.5(ALK):c.3836+235_3836+243del rs76343130
NM_004304.5(ALK):c.3836+242_3836+243del rs76343130
NM_004304.5(ALK):c.3836+243del rs76343130
NM_004304.5(ALK):c.3836+27G>T rs3738868
NM_004304.5(ALK):c.3855G>T (p.Lys1285Asn)
NM_004304.5(ALK):c.385G>A (p.Gly129Ser) rs1553380334
NM_004304.5(ALK):c.3938G>A (p.Trp1313Ter) rs1573098889
NM_004304.5(ALK):c.3947G>A (p.Gly1316Glu) rs1285677926
NM_004304.5(ALK):c.4073+112del rs66469942
NM_004304.5(ALK):c.4073+260C>T rs139848273
NM_004304.5(ALK):c.4074-13CTT[2] rs2148141994
NM_004304.5(ALK):c.4074-279G>T rs145976429
NM_004304.5(ALK):c.4165-158A>G rs12619135
NM_004304.5(ALK):c.4165-89_4165-88del rs113703903
NM_004304.5(ALK):c.4210C>T (p.Leu1404Phe) rs757615099
NM_004304.5(ALK):c.4221G>A (p.Glu1407=) rs552187705
NM_004304.5(ALK):c.4262T>G (p.Val1421Gly) rs1472924406
NM_004304.5(ALK):c.4288G>T (p.Ala1430Ser)
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004304.5(ALK):c.4350C>T (p.Gly1450=)
NM_004304.5(ALK):c.4390C>T (p.Arg1464Ter)
NM_004304.5(ALK):c.4393G>C (p.Val1465Leu) rs769128867
NM_004304.5(ALK):c.44_49delinsACACGA (p.Ser15_Ala17delinsTyrThrThr)
NM_004304.5(ALK):c.4570AAG[1] (p.Lys1525del) rs755556501
NM_004304.5(ALK):c.4810T>C (p.Tyr1604His)
NM_004304.5(ALK):c.4836G>C (p.Lys1612Asn) rs78174819
NM_004304.5(ALK):c.4860_*12del (p.Ter1621LeuextTer?) rs1456617295
NM_004304.5(ALK):c.592G>C (p.Val198Leu)
NM_004304.5(ALK):c.616G>A (p.Ala206Thr) rs141093002
NM_004304.5(ALK):c.66G>C (p.Gly22=) rs778418435
NM_004304.5(ALK):c.702T>A (p.Pro234=) rs2246745
NM_004304.5(ALK):c.702T>G (p.Pro234=) rs2246745
NM_004304.5(ALK):c.782G>A (p.Arg261Gln) rs375097381
NM_004304.5(ALK):c.782G>T (p.Arg261Leu) rs375097381
NM_004304.5(ALK):c.788-60G>C rs2256376
NM_004304.5(ALK):c.788G>A (p.Gly263Asp)
NM_004304.5(ALK):c.858G>C (p.Gln286His)
NM_004304.5(ALK):c.874C>T (p.Arg292Cys) rs201750304
NM_004304.5(ALK):c.926C>T (p.Ala309Val) rs748017801
NM_004304.5(ALK):c.952+1G>A rs1678504706
NM_004304.5(ALK):c.952+3A>G rs1200110360
NM_004304.5(ALK):c.953-112T>A rs11899073
NM_004304.5(ALK):c.954C>G (p.Gly318=)

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