ClinVar Miner

Variants in gene ATM with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
7822 1745 0 407 339 2 55 738

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor other
pathogenic 0 252 18 1 1 1 0 1
likely pathogenic 252 0 41 1 0 0 0 0
uncertain significance 18 41 0 332 59 1 1 1
likely benign 0 1 331 0 155 0 1 0
benign 0 0 58 155 0 0 1 0
risk factor 0 0 1 1 1 0 0 0

All variants with conflicting interpretations #

Total variants: 738
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000051.4(ATM):c.2125-68T>C rs2235008 0.01573
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.3993+40G>A rs3218709 0.00933
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000051.4(ATM):c.5762+27G>A rs3218686 0.00428
NM_000051.4(ATM):c.2250+22A>C rs3218692 0.00419
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_000051.4(ATM):c.5005+21_5005+22insGC rs547799081 0.00378
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000051.4(ATM):c.3402+17T>C rs3092825 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.2467-31T>C rs141761716 0.00017
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
NM_000051.4(ATM):c.3403-16_3403-15insA rs569564716 0.00016
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00012
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239 0.00010
NM_000051.4(ATM):c.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.332-3T>C rs376116157 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.5583G>A (p.Leu1861=) rs781383087 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00008
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.1887C>T (p.Ser629=) rs143097772 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.3577-13T>C rs587780856 0.00006
NM_000051.4(ATM):c.3588A>G (p.Lys1196=) rs376524625 0.00006
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2376+20G>C rs140364468 0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.2967T>C (p.Thr989=) rs144145128 0.00005
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000051.4(ATM):c.861T>C (p.Ile287=) rs55849405 0.00005
NM_000051.4(ATM):c.-18G>A rs374303671 0.00004
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.1685A>G (p.Asn562Ser) rs368209025 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.1953A>G (p.Leu651=) rs730881283 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.3994-7C>T rs769346400 0.00004
NM_000051.4(ATM):c.4146A>G (p.Pro1382=) rs147738621 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu) rs587779841 0.00004
NM_000051.4(ATM):c.4777-13T>A rs371535082 0.00004
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.1608-3T>C rs774196176 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.1905C>T (p.His635=) rs1020808836 0.00003
NM_000051.4(ATM):c.1943T>C (p.Val648Ala) rs141175037 0.00003
NM_000051.4(ATM):c.2187C>T (p.Tyr729=) rs373430058 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.2638+9A>G rs761592414 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.2751C>T (p.Ser917=) rs876659611 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.2838+9C>G rs370160823 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 0.00003
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.3354A>G (p.Thr1118=) rs377316982 0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly) rs730881369 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00003
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg) rs752559455 0.00003
NM_000051.4(ATM):c.4674G>A (p.Thr1558=) rs876658474 0.00003
NM_000051.4(ATM):c.496+18T>A rs762171014 0.00003
NM_000051.4(ATM):c.496+20G>C rs751245102 0.00003
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215 0.00003
NM_000051.4(ATM):c.5550A>G (p.Leu1850=) rs35850088 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000051.4(ATM):c.1237C>T (p.Leu413=) rs1565381686 0.00002
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.1379C>T (p.Thr460Met) rs587781841 0.00002
NM_000051.4(ATM):c.1629T>G (p.Thr543=) rs760285673 0.00002
NM_000051.4(ATM):c.1792A>G (p.Ile598Val) rs730881343 0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.2124+14A>G rs772719886 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.2262A>G (p.Gln754=) rs778320952 0.00002
NM_000051.4(ATM):c.2638+6T>C rs768305533 0.00002
NM_000051.4(ATM):c.2741A>G (p.Asn914Ser) rs141947469 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3285-15C>T rs770928986 0.00002
NM_000051.4(ATM):c.3369A>G (p.Ala1123=) rs587780543 0.00002
NM_000051.4(ATM):c.3402+16A>G rs763382531 0.00002
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile) rs587778073 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 0.00002
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile) rs587779838 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.49C>A (p.His17Asn) rs876658161 0.00002
NM_000051.4(ATM):c.5002C>T (p.Leu1668=) rs747317946 0.00002
NM_000051.4(ATM):c.5005+8A>G rs1204604787 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.5319+8A>G rs375051697 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.660G>A (p.Ala220=) rs763669136 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.95G>A (p.Arg32His) rs368161489 0.00002
NM_000051.4(ATM):c.-14T>C rs766166610 0.00001
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn) rs34083085 0.00001
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter) rs747563556 0.00001
NM_000051.4(ATM):c.1303T>C (p.Leu435=) rs748469311 0.00001
NM_000051.4(ATM):c.1335A>G (p.Gln445=) rs1385656085 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.134G>A (p.Arg45Gln) rs762382111 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1494G>A (p.Glu498=) rs763108858 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.1634C>T (p.Ala545Val) rs878853485 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys) rs587780614 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.185+10T>C rs1555054317 0.00001
NM_000051.4(ATM):c.1898+3A>G rs200169643 0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys) rs528165789 0.00001
NM_000051.4(ATM):c.2019G>A (p.Lys673=) rs786203021 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.2075G>A (p.Arg692His) rs751515818 0.00001
NM_000051.4(ATM):c.2124+6A>T rs550998406 0.00001
NM_000051.4(ATM):c.2131A>G (p.Asn711Asp) rs587781654 0.00001
NM_000051.4(ATM):c.2141C>T (p.Thr714Ile) rs1555074846 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2376+3A>T rs758083563 0.00001
NM_000051.4(ATM):c.2377-19T>G rs775771700 0.00001
NM_000051.4(ATM):c.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.250G>T (p.Ala84Ser) rs1382256509 0.00001
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly) rs748203812 0.00001
NM_000051.4(ATM):c.2564T>C (p.Met855Thr) rs587779824 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 0.00001
NM_000051.4(ATM):c.2598T>G (p.Val866=) rs730881350 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.2638+3A>G rs876660552 0.00001
NM_000051.4(ATM):c.2639-3T>C rs1410247657 0.00001
NM_000051.4(ATM):c.2748G>T (p.Val916=) rs1050470790 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2839-10A>G rs770032309 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr) rs876660628 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3284+7G>C rs371629629 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=) rs1060501625 0.00001
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu) rs567344545 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile) rs144535256 0.00001
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro) rs786203306 0.00001
NM_000051.4(ATM):c.3982T>C (p.Leu1328=) rs876658204 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4109+4T>C rs754706599 0.00001
NM_000051.4(ATM):c.4110-4T>C rs777186156 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4237-8T>C rs750427647 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4492T>C (p.Leu1498=) rs748949478 0.00001
NM_000051.4(ATM):c.456G>T (p.Val152=) rs1555059433 0.00001
NM_000051.4(ATM):c.4611+9C>G rs760704159 0.00001
NM_000051.4(ATM):c.4612-4T>G rs569983068 0.00001
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His) rs587781320 0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg) rs368830730 0.00001
NM_000051.4(ATM):c.4779A>G (p.Glu1593=) rs587778076 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln) rs765759912 0.00001
NM_000051.4(ATM):c.4909+3G>A rs778685122 0.00001
NM_000051.4(ATM):c.4909+4C>T rs587782125 0.00001
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.4910-4C>T rs786202493 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.497-4T>A rs876659621 0.00001
NM_000051.4(ATM):c.4977A>T (p.Ile1659=) rs199888434 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5005+9C>T rs730881291 0.00001
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu) rs587782153 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 0.00001
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr) rs756197350 0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly) rs770882126 0.00001
NM_000051.4(ATM):c.5177+3G>A rs774216164 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs) rs878853518 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5319+3C>A rs371640963 0.00001
NM_000051.4(ATM):c.5320-10T>C rs864622731 0.00001
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs) rs1214541502 0.00001
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr) rs776309355 0.00001
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe) rs769872474 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe) rs956546711 0.00001
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser) rs202028401 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5674+6C>G rs780204400 0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln) rs370680798 0.00001
NM_000051.4(ATM):c.591A>T (p.Gly197=) rs587780630 0.00001
NM_000051.4(ATM):c.5G>A (p.Ser2Asn) rs730881360 0.00001
NM_000051.4(ATM):c.69A>G (p.Arg23=) rs876659304 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.713T>C (p.Ile238Thr) rs149116878 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.753G>A (p.Val251=) rs876658806 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.858A>G (p.Gln286=) rs145301478 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.-30-5dup rs745673370
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1007T>G (p.Phe336Cys) rs1018587967
NM_000051.4(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1045_1052del (p.Met349fs) rs1565375817
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1065+5A>T rs1204741025
NM_000051.4(ATM):c.1066-31dup rs35813860
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe) rs1555069560
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.118A>G (p.Ile40Val) rs1064796002
NM_000051.4(ATM):c.11T>C (p.Val4Ala) rs1555053873
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1227T>C (p.Leu409=) rs1060504273
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1236-1G>A rs1408719214
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1236-4_1236-3del rs34325032
NM_000051.4(ATM):c.1236-4_1236-3dup rs34325032
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser) rs769214234
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1434A>G (p.Ser478=) rs2135322636
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.154G>T (p.Gly52Ter) rs730881362
NM_000051.4(ATM):c.156A>C (p.Gly52=) rs876660725
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.1584T>C (p.Thr528=) rs864622408
NM_000051.4(ATM):c.15del (p.Asn6fs)
NM_000051.4(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.4(ATM):c.1607+20T>C rs1555071308
NM_000051.4(ATM):c.1608-2A>G rs2135338498
NM_000051.4(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.4(ATM):c.1677A>G (p.Ile559Met) rs1190611996
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser) rs786203230
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.4(ATM):c.1772dup (p.Asn591fs) rs1591528248
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn) rs776911505
NM_000051.4(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer) rs2080230745
NM_000051.4(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.1898+1G>T rs758325274
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1899-7C>A rs1060501584
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg) rs1565389611
NM_000051.4(ATM):c.1914dup (p.Asp639fs) rs2080292910
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1976A>G (p.Lys659Arg) rs1565390043
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2011A>G (p.Ile671Val) rs730881344
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter) rs769338089
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2112T>C (p.Asn704=) rs2080317012
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
NM_000051.4(ATM):c.2125-3A>C rs1565394396
NM_000051.4(ATM):c.2125-4T>C rs1064795623
NM_000051.4(ATM):c.2125-7_2125-3del rs1060504272
NM_000051.4(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.4(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser) rs565622131
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2194A>G (p.Met732Val) rs1415360560
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.4(ATM):c.2250+13A>G rs1290519111
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.2251-14T>A rs751677125
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.4(ATM):c.2321G>T (p.Gly774Val) rs1555075727
NM_000051.4(ATM):c.2376+3A>G rs758083563
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2377-6T>A rs876660963
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.2456del (p.Cys819fs) rs2135422280
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2467-8C>G rs1425701157
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer) rs2081303007
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter) rs2081303434
NM_000051.4(ATM):c.2524dup (p.Thr842fs) rs1555082160
NM_000051.4(ATM):c.2539A>T (p.Met847Leu) rs587779823
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu) rs1064793513
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser) rs1555082253
NM_000051.4(ATM):c.2569C>G (p.Leu857Val) rs876659486
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter) rs1565416901
NM_000051.4(ATM):c.2638+1G>T rs2135509713
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.2639-27_2639-22del rs4987971
NM_000051.4(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.2838+9C>T rs370160823
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2839-4T>C rs1057522619
NM_000051.4(ATM):c.2839-7A>G rs1445472389
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2845A>G (p.Met949Val) rs1348704826
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.2908C>T (p.Leu970=) rs1060504260
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2922-4A>G rs1555084924
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2922-9_2922-8del
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2952A>G (p.Gln984=) rs1476499901
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer) rs1060501600
NM_000051.4(ATM):c.2989G>A (p.Val997Ile) rs1487902875
NM_000051.4(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe) rs786202470
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser) rs730881355
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val) rs758708495
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3153+5G>C rs1591608756
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs) rs1060501587
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.3258C>T (p.Arg1086=) rs773277362
NM_000051.4(ATM):c.3281del (p.Asn1094fs) rs776516754
NM_000051.4(ATM):c.3284+8dup rs886047611
NM_000051.4(ATM):c.3285-5T>C rs876659715
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.4(ATM):c.332-7G>T rs1591474291
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3400A>G (p.Met1134Val) rs1591632583
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.3403-3A>C rs374866638
NM_000051.4(ATM):c.3403-4T>C rs1591636158
NM_000051.4(ATM):c.3403-8_3403-4del rs1555091114
NM_000051.4(ATM):c.340del (p.Arg114fs)
NM_000051.4(ATM):c.3447T>C (p.Asn1149=) rs763473729
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val) rs1222634243
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.4(ATM):c.3577-12del rs730881288
NM_000051.4(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3691T>C (p.Leu1231=) rs1210990672
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3746+4A>C rs1555092593
NM_000051.4(ATM):c.3747-10C>G rs775274473
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs) rs1555093289
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter) rs2082374257
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3841del (p.Ser1281fs) rs886039621
NM_000051.4(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3937G>T (p.Glu1313Ter)
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.4(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3993+4T>C rs2082390512
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.3994-12G>T rs1057520398
NM_000051.4(ATM):c.3994-160T>C rs2082548304
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.3994-9C>T rs767111803
NM_000051.4(ATM):c.4000_4006del (p.His1334fs) rs2135735093
NM_000051.4(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4020A>G (p.Leu1340=) rs1555095888
NM_000051.4(ATM):c.4081C>G (p.Gln1361Glu) rs121434222
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
NM_000051.4(ATM):c.4179C>A (p.Ile1393=) rs775688446
NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser) rs375396787
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.4(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=) rs886047612
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4436+3A>G rs2082686950
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu) rs786203352
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser) rs748898098
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4612-12A>T rs1326401118
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4776+2_4776+13del rs762838462
NM_000051.4(ATM):c.4777-10_4777-7delinsCTCTTTTAGTTACATTTACATTTTAGTTAA rs1555101600
NM_000051.4(ATM):c.4777-10dup rs1398289633
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4797A>C (p.Ser1599=) rs1371876868
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn) rs1555101921
NM_000051.4(ATM):c.4890C>T (p.Asp1630=) rs1591685165
NM_000051.4(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.4(ATM):c.4910-2A>T rs1555103156
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile) rs730881371
NM_000051.4(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+4T>G rs587781375
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2661A>G rs1591491477
NM_000051.4(ATM):c.497-4del rs768748099
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.5005+15T>A rs377355762
NM_000051.4(ATM):c.5005+17C>T rs200688912
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.4(ATM):c.5172dup (p.Asp1725fs) rs2135893222
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5178-11G>A rs200876654
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-2A>G rs2135911500
NM_000051.4(ATM):c.5178-4dup rs747750958
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5320-5T>C rs1555106308
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.4(ATM):c.5354C>A (p.Pro1785His) rs1555106368
NM_000051.4(ATM):c.5373T>C (p.Asp1791=) rs2135928197
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
NM_000051.4(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.4(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn) rs2083595502
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile) rs1468995507
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala) rs1555107562
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
NM_000051.4(ATM):c.56G>A (p.Arg19Lys) rs1064793029
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.720C>T (p.Leu240=) rs1254593530
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.75_78del rs1565344409
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.4(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.4(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901+2T>C rs1218815157
NM_000051.4(ATM):c.901+6A>C rs1555067357
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer) rs2135265742
NM_000051.4(ATM):c.975del (p.His325fs) rs2079883068
NM_000051.4(ATM):c.976A>G (p.Ile326Val) rs1555068422
NM_000051.4(ATM):c.977_978del (p.Ile326fs) rs876658832
Single allele

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