ClinVar Miner

List of variants studied for Congenital muscular hypertrophy-cerebral syndrome

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ClinVar version:
Total variants: 793
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.-19C>T rs1264011 0.42752
NM_006306.4(SMC1A):c.*5481G>A rs147896900 0.01612
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01441
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00977
NM_006306.4(SMC1A):c.*5016T>C rs17002602 0.00919
NM_006306.4(SMC1A):c.*2423G>A rs147324052 0.00906
NM_006306.4(SMC1A):c.*2389G>T rs114329529 0.00727
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_006306.4(SMC1A):c.298+19A>G rs113817745 0.00432
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_006306.4(SMC1A):c.*4887T>C rs142173620 0.00318
NM_006306.4(SMC1A):c.*3421G>T rs41304780 0.00284
NM_006306.4(SMC1A):c.*1542T>C rs781783328 0.00263
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) rs144850468 0.00168
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_006306.4(SMC1A):c.*2609A>C rs192734396 0.00091
NM_006306.4(SMC1A):c.*2435T>G rs782650092 0.00062
NM_006306.4(SMC1A):c.*488A>G rs956422392 0.00061
NM_006306.4(SMC1A):c.*4382A>G rs906340789 0.00057
NM_006306.4(SMC1A):c.*5444G>A rs181871602 0.00055
NM_006306.4(SMC1A):c.*4443G>A rs782630117 0.00051
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_006306.4(SMC1A):c.*3851A>T rs782817464 0.00050
NM_006306.4(SMC1A):c.*2948G>T rs183355603 0.00048
NM_006306.4(SMC1A):c.1912-14C>T rs375109064 0.00046
NM_006306.4(SMC1A):c.*5355G>A rs782143840 0.00044
NM_006306.4(SMC1A):c.*5489G>T rs1007398058 0.00040
NM_006306.4(SMC1A):c.2862+14C>T rs180705944 0.00040
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_006306.4(SMC1A):c.*1961C>T rs986586627 0.00036
NM_006306.4(SMC1A):c.*578C>T rs782042924 0.00028
NM_006306.4(SMC1A):c.*1239T>C rs782502306 0.00023
NM_006306.4(SMC1A):c.*5946C>T rs972532010 0.00022
NM_006306.4(SMC1A):c.3438-7C>T rs782796392 0.00020
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006306.4(SMC1A):c.*2856A>T rs148128199 0.00018
NM_006306.4(SMC1A):c.2862+20G>A rs374473076 0.00017
NM_006306.4(SMC1A):c.*931A>G rs782237045 0.00016
NM_006306.4(SMC1A):c.1337+9C>T rs376455825 0.00014
NM_006306.4(SMC1A):c.*3777C>G rs41315082 0.00013
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=) rs140585416 0.00012
NM_006306.4(SMC1A):c.616-6G>A rs587784424 0.00012
NM_006306.4(SMC1A):c.861G>A (p.Lys287=) rs782543093 0.00012
NM_006306.4(SMC1A):c.*381A>G rs184957599 0.00011
NM_006306.4(SMC1A):c.*3025C>T rs782139355 0.00010
NM_006306.4(SMC1A):c.*1914A>G rs964056946 0.00009
NM_006306.4(SMC1A):c.1431G>C (p.Leu477=) rs1392864809 0.00008
NM_006306.4(SMC1A):c.3131-19C>T rs199844404 0.00008
NM_006306.4(SMC1A):c.*703G>T rs189126241 0.00007
NM_006306.4(SMC1A):c.1911+12C>G rs200324148 0.00007
NM_006306.4(SMC1A):c.2034G>A (p.Lys678=) rs782008528 0.00007
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=) rs375312256 0.00007
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205 0.00007
NM_006306.4(SMC1A):c.764G>A (p.Arg255His) rs782606119 0.00007
NM_006306.4(SMC1A):c.2562+17T>G rs782781158 0.00006
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=) rs782574044 0.00006
NM_006306.4(SMC1A):c.*1040G>A rs79382603 0.00005
NM_006306.4(SMC1A):c.*2050T>C rs1057515964 0.00005
NM_006306.4(SMC1A):c.*2225G>A rs1047323522 0.00005
NM_006306.4(SMC1A):c.*4998T>C rs899071356 0.00005
NM_006306.4(SMC1A):c.2059-9T>C rs782041729 0.00005
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=) rs1193658492 0.00005
NM_006306.4(SMC1A):c.2977G>T (p.Ala993Ser) rs782127256 0.00005
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=) rs202083908 0.00005
NM_006306.4(SMC1A):c.3246T>C (p.Asp1082=) rs1445642790 0.00005
NM_006306.4(SMC1A):c.756C>T (p.Asp252=) rs370671274 0.00005
NM_006306.4(SMC1A):c.825G>A (p.Arg275=) rs150488530 0.00005
NM_001281463.1(SMC1A):c.-275G>T rs1026058160 0.00004
NM_006306.4(SMC1A):c.*2663C>T rs1057515961 0.00004
NM_006306.4(SMC1A):c.*3087G>A rs782024964 0.00004
NM_006306.4(SMC1A):c.*4156A>G rs999754790 0.00004
NM_006306.4(SMC1A):c.*5251G>T rs188308804 0.00004
NM_006306.4(SMC1A):c.109+13T>G rs782668468 0.00004
NM_006306.4(SMC1A):c.1546-11A>G rs782038777 0.00004
NM_006306.4(SMC1A):c.1564C>T (p.Leu522=) rs782367851 0.00004
NM_006306.4(SMC1A):c.2421-16C>T rs782313664 0.00004
NM_006306.4(SMC1A):c.2563-3C>T rs372708074 0.00004
NM_006306.4(SMC1A):c.298+12T>C rs782781148 0.00004
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met) rs372307204 0.00004
NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=) rs374246357 0.00004
NM_006306.4(SMC1A):c.458C>T (p.Ala153Val) rs1171109209 0.00004
NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly) rs1001684337 0.00004
NM_006306.4(SMC1A):c.854+17G>A rs781860125 0.00004
NM_006306.4(SMC1A):c.*4087G>A rs1057515957 0.00003
NM_006306.4(SMC1A):c.*4581T>C rs1057515955 0.00003
NM_006306.4(SMC1A):c.*675A>G rs1415804526 0.00003
NM_006306.4(SMC1A):c.1023G>A (p.Leu341=) rs782132247 0.00003
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=) rs782695048 0.00003
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=) rs1210222346 0.00003
NM_006306.4(SMC1A):c.1933C>T (p.Leu645=) rs987473076 0.00003
NM_006306.4(SMC1A):c.1938C>T (p.Phe646=) rs370873072 0.00003
NM_006306.4(SMC1A):c.2058+9C>G rs1356800269 0.00003
NM_006306.4(SMC1A):c.227A>G (p.Asn76Ser) rs200243549 0.00003
NM_006306.4(SMC1A):c.2421-20C>T rs1282673050 0.00003
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr) rs1034852654 0.00003
NM_006306.4(SMC1A):c.2788C>T (p.Leu930=) rs781912370 0.00003
NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys) rs781980688 0.00003
NM_006306.4(SMC1A):c.2973+16_2973+17del rs782659050 0.00003
NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser) rs782010974 0.00003
NM_006306.4(SMC1A):c.3267C>G (p.Ser1089=) rs368345004 0.00003
NM_006306.4(SMC1A):c.3438-18C>T rs781873202 0.00003
NM_006306.4(SMC1A):c.3508-15C>T rs782581458 0.00003
NM_006306.4(SMC1A):c.3618+8G>A rs782319907 0.00003
NM_006306.4(SMC1A):c.3655G>A (p.Asp1219Asn) rs1259383708 0.00003
NM_006306.4(SMC1A):c.429T>C (p.Ile143=) rs782366028 0.00003
NM_006306.4(SMC1A):c.453G>A (p.Arg151=) rs782287101 0.00003
NM_006306.4(SMC1A):c.616-19C>T rs1556890792 0.00003
NM_006306.4(SMC1A):c.*1934T>C rs1311438037 0.00002
NM_006306.4(SMC1A):c.*3484G>A rs1215730078 0.00002
NM_006306.4(SMC1A):c.*3671C>T rs1057515959 0.00002
NM_006306.4(SMC1A):c.*4367T>C rs1003358509 0.00002
NM_006306.4(SMC1A):c.*5197T>C rs782050365 0.00002
NM_006306.4(SMC1A):c.*5451A>G rs782308559 0.00002
NM_006306.4(SMC1A):c.*5692G>A rs1057515952 0.00002
NM_006306.4(SMC1A):c.-1C>T rs797044618 0.00002
NM_006306.4(SMC1A):c.-7G>A rs1368401429 0.00002
NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn) rs893697991 0.00002
NM_006306.4(SMC1A):c.1080T>C (p.Ser360=) rs1299162510 0.00002
NM_006306.4(SMC1A):c.1254+4G>A rs781824288 0.00002
NM_006306.4(SMC1A):c.1290G>A (p.Glu430=) rs369057648 0.00002
NM_006306.4(SMC1A):c.1545+5G>A rs113714434 0.00002
NM_006306.4(SMC1A):c.1546-5C>T rs1556889651 0.00002
NM_006306.4(SMC1A):c.174A>G (p.Val58=) rs200428075 0.00002
NM_006306.4(SMC1A):c.1923G>A (p.Leu641=) rs782123095 0.00002
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=) rs1309209851 0.00002
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln) rs782176647 0.00002
NM_006306.4(SMC1A):c.2205C>A (p.Ser735=) rs1388876894 0.00002
NM_006306.4(SMC1A):c.2454C>T (p.Gly818=) rs2075664345 0.00002
NM_006306.4(SMC1A):c.2461T>C (p.Leu821=) rs1198625423 0.00002
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=) rs781991944 0.00002
NM_006306.4(SMC1A):c.2635G>A (p.Ala879Thr) rs369412105 0.00002
NM_006306.4(SMC1A):c.2640G>A (p.Lys880=) rs2075651961 0.00002
NM_006306.4(SMC1A):c.270G>C (p.Glu90Asp) rs781811085 0.00002
NM_006306.4(SMC1A):c.2718C>G (p.Thr906=) rs1556888013 0.00002
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg) rs782728089 0.00002
NM_006306.4(SMC1A):c.27T>C (p.Ile9=) rs1396001151 0.00002
NM_006306.4(SMC1A):c.2838C>T (p.Thr946=) rs782146571 0.00002
NM_006306.4(SMC1A):c.2886A>C (p.Ser962=) rs782788248 0.00002
NM_006306.4(SMC1A):c.2949C>T (p.Tyr983=) rs1390804289 0.00002
NM_006306.4(SMC1A):c.299-15T>G rs782364230 0.00002
NM_006306.4(SMC1A):c.3003A>G (p.Gln1001=) rs782049998 0.00002
NM_006306.4(SMC1A):c.3131-13T>G rs1273874101 0.00002
NM_006306.4(SMC1A):c.3215C>G (p.Ala1072Gly) rs782241632 0.00002
NM_006306.4(SMC1A):c.3438-3C>T rs782161734 0.00002
NM_006306.4(SMC1A):c.3618+7C>T rs782267492 0.00002
NM_006306.4(SMC1A):c.579G>A (p.Ala193=) rs199571320 0.00002
NM_006306.4(SMC1A):c.594A>G (p.Glu198=) rs1556890814 0.00002
NM_006306.4(SMC1A):c.652C>T (p.Arg218Trp) rs782811561 0.00002
NM_006306.4(SMC1A):c.813C>A (p.Gly271=) rs1556890754 0.00002
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248 0.00002
NM_006306.4(SMC1A):c.*2086T>C rs1173339282 0.00001
NM_006306.4(SMC1A):c.*3392T>C rs2075561045 0.00001
NM_006306.4(SMC1A):c.*3596C>T rs2075560234 0.00001
NM_006306.4(SMC1A):c.*41G>A rs782548345 0.00001
NM_006306.4(SMC1A):c.*5855G>T rs1289923605 0.00001
NM_006306.4(SMC1A):c.102T>C (p.Asn34=) rs782100278 0.00001
NM_006306.4(SMC1A):c.1057C>T (p.Arg353Trp) rs781862992 0.00001
NM_006306.4(SMC1A):c.1099T>C (p.Leu367=) rs2075714965 0.00001
NM_006306.4(SMC1A):c.110-17C>T rs1556891111 0.00001
NM_006306.4(SMC1A):c.1114-15C>T rs1489497654 0.00001
NM_006306.4(SMC1A):c.1130G>A (p.Arg377Gln) rs782541938 0.00001
NM_006306.4(SMC1A):c.1254+5G>A rs1569358589 0.00001
NM_006306.4(SMC1A):c.1337+15A>C rs1556890201 0.00001
NM_006306.4(SMC1A):c.1347A>C (p.Leu449=) rs142531536 0.00001
NM_006306.4(SMC1A):c.1403G>A (p.Arg468Gln) rs1556890153 0.00001
NM_006306.4(SMC1A):c.1408A>G (p.Ile470Val) rs782521146 0.00001
NM_006306.4(SMC1A):c.1410T>C (p.Ile470=) rs782223677 0.00001
NM_006306.4(SMC1A):c.1419C>T (p.Ile473=) rs1052684238 0.00001
NM_006306.4(SMC1A):c.1536T>C (p.Pro512=) rs200645744 0.00001
NM_006306.4(SMC1A):c.1546-17C>T rs782676701 0.00001
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=) rs782547781 0.00001
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=) rs781957759 0.00001
NM_006306.4(SMC1A):c.1566A>G (p.Leu522=) rs782191187 0.00001
NM_006306.4(SMC1A):c.15A>G (p.Lys5=) rs782396631 0.00001
NM_006306.4(SMC1A):c.1726C>T (p.Leu576=) rs781835493 0.00001
NM_006306.4(SMC1A):c.1758G>T (p.Arg586=) rs782379340 0.00001
NM_006306.4(SMC1A):c.1808C>T (p.Pro603Leu) rs1368119738 0.00001
NM_006306.4(SMC1A):c.184C>A (p.Arg62=) rs1205734166 0.00001
NM_006306.4(SMC1A):c.1860C>T (p.Asp620=) rs1458553359 0.00001
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=) rs782665597 0.00001
NM_006306.4(SMC1A):c.1872T>G (p.Asp624Glu) rs1369059288 0.00001
NM_006306.4(SMC1A):c.1879C>T (p.Arg627Cys) rs1429718803 0.00001
NM_006306.4(SMC1A):c.1911+7A>G rs2075687773 0.00001
NM_006306.4(SMC1A):c.1917G>A (p.Val639=) rs782292864 0.00001
NM_006306.4(SMC1A):c.1935A>G (p.Leu645=) rs1198815162 0.00001
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) rs1556889522 0.00001
NM_006306.4(SMC1A):c.2040C>T (p.Arg680=) rs782816467 0.00001
NM_006306.4(SMC1A):c.2046A>G (p.Thr682=) rs1388761806 0.00001
NM_006306.4(SMC1A):c.2313+14G>T rs1556889255 0.00001
NM_006306.4(SMC1A):c.2345G>A (p.Arg782Gln) rs782733394 0.00001
NM_006306.4(SMC1A):c.2421-14A>C rs782199751 0.00001
NM_006306.4(SMC1A):c.2421-15C>A rs1002384123 0.00001
NM_006306.4(SMC1A):c.2421-4A>G rs782673405 0.00001
NM_006306.4(SMC1A):c.2505A>G (p.Val835=) rs782491758 0.00001
NM_006306.4(SMC1A):c.2508C>A (p.His836Gln) rs904926146 0.00001
NM_006306.4(SMC1A):c.2526G>A (p.Val842=) rs1366369809 0.00001
NM_006306.4(SMC1A):c.2563-7G>A rs782741430 0.00001
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu) rs376589639 0.00001
NM_006306.4(SMC1A):c.2694C>T (p.Leu898=) rs886362301 0.00001
NM_006306.4(SMC1A):c.2708+13A>G rs782266644 0.00001
NM_006306.4(SMC1A):c.2708+16C>T rs1391014307 0.00001
NM_006306.4(SMC1A):c.2708+7G>A rs1474313110 0.00001
NM_006306.4(SMC1A):c.2709-10C>A rs2083250975 0.00001
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile) rs1569355048 0.00001
NM_006306.4(SMC1A):c.285C>G (p.Ala95=) rs587784414 0.00001
NM_006306.4(SMC1A):c.2862+4A>C rs1445281439 0.00001
NM_006306.4(SMC1A):c.2863-14C>T rs1342267967 0.00001
NM_006306.4(SMC1A):c.2863-17C>G rs782519232 0.00001
NM_006306.4(SMC1A):c.2863-19C>T rs201312024 0.00001
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr) rs1239033094 0.00001
NM_006306.4(SMC1A):c.2950G>A (p.Gly984Ser) rs782381563 0.00001
NM_006306.4(SMC1A):c.2956C>T (p.Leu986=) rs1556887757 0.00001
NM_006306.4(SMC1A):c.2973+11A>G rs782580506 0.00001
NM_006306.4(SMC1A):c.2974-20G>C rs1556886144 0.00001
NM_006306.4(SMC1A):c.3056G>A (p.Arg1019His) rs1475862879 0.00001
NM_006306.4(SMC1A):c.3219T>C (p.Cys1073=) rs781994078 0.00001
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=) rs587784417 0.00001
NM_006306.4(SMC1A):c.3285+4G>A rs1459975526 0.00001
NM_006306.4(SMC1A):c.3286-4C>T rs1556885985 0.00001
NM_006306.4(SMC1A):c.3286-7C>T rs782657390 0.00001
NM_006306.4(SMC1A):c.3437+10A>T rs782079503 0.00001
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile) rs782084021 0.00001
NM_006306.4(SMC1A):c.3463C>T (p.Leu1155=) rs781977704 0.00001
NM_006306.4(SMC1A):c.3508-18T>C rs1400670141 0.00001
NM_006306.4(SMC1A):c.3508-20C>T rs781785288 0.00001
NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=) rs138015913 0.00001
NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe) rs781998306 0.00001
NM_006306.4(SMC1A):c.3619-14C>T rs782732704 0.00001
NM_006306.4(SMC1A):c.3627C>T (p.Asp1209=) rs1313105752 0.00001
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu) rs782063495 0.00001
NM_006306.4(SMC1A):c.3687C>T (p.Asn1229=) rs1268124406 0.00001
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser) rs782012594 0.00001
NM_006306.4(SMC1A):c.386A>G (p.Lys129Arg) rs1223252947 0.00001
NM_006306.4(SMC1A):c.402C>T (p.Leu134=) rs1211706449 0.00001
NM_006306.4(SMC1A):c.411+6C>T rs782515915 0.00001
NM_006306.4(SMC1A):c.412-14T>G rs782106342 0.00001
NM_006306.4(SMC1A):c.42G>C (p.Ser14=) rs1463770411 0.00001
NM_006306.4(SMC1A):c.479G>A (p.Arg160His) rs2075720699 0.00001
NM_006306.4(SMC1A):c.480T>A (p.Arg160=) rs782369322 0.00001
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val) rs1556890833 0.00001
NM_006306.4(SMC1A):c.495G>A (p.Ala165=) rs782260918 0.00001
NM_006306.4(SMC1A):c.552T>C (p.Phe184=) rs1556890821 0.00001
NM_006306.4(SMC1A):c.615+14C>T rs1340091096 0.00001
NM_006306.4(SMC1A):c.616-4A>G rs782075201 0.00001
NM_006306.4(SMC1A):c.63C>T (p.Ile21=) rs781999328 0.00001
NM_006306.4(SMC1A):c.675C>T (p.Leu225=) rs782182228 0.00001
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser) rs782172948 0.00001
NM_006306.4(SMC1A):c.753G>A (p.Lys251=) rs782297601 0.00001
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys) rs782209409 0.00001
NM_006306.4(SMC1A):c.773A>G (p.Lys258Arg) rs897112776 0.00001
NM_006306.4(SMC1A):c.816A>G (p.Lys272=) rs782455775 0.00001
NM_006306.4(SMC1A):c.81C>T (p.Phe27=) rs2075764568 0.00001
NM_006306.4(SMC1A):c.823C>T (p.Arg275Trp) rs781812690 0.00001
NM_006306.4(SMC1A):c.855-13C>T rs1556890636 0.00001
NM_006306.4(SMC1A):c.855-14C>T rs900972156 0.00001
NM_006306.4(SMC1A):c.947A>G (p.Lys316Arg) rs1377540307 0.00001
NM_006306.4(SMC1A):c.986G>A (p.Arg329His) rs782449052 0.00001
NC_000023.10:g.(?_53222149)_(53560392_?)dup
NC_000023.10:g.(?_53222149)_(55057617_?)del
NC_000023.10:g.(?_53276131)_(53449569_?)dup
NC_000023.10:g.(?_53349595)_(53410194_?)dup
NC_000023.10:g.(?_53349605)_(53410184_?)dup
NC_000023.10:g.(?_53349615)_(53410174_?)dup
NC_000023.10:g.(?_53407004)_(53449569_?)dup
NC_000023.10:g.(?_53421678)_(53449569_?)dup
NC_000023.10:g.(?_53421698)_(53421808_?)del
NC_000023.10:g.(?_53423127)_(53572142_?)dup
NC_000023.10:g.(?_53430478)_(53432101_?)del
NC_000023.10:g.(?_53430478)_(53442138_?)del
NC_000023.10:g.(?_53435973)_(53442138_?)del
NC_000023.10:g.(?_53448825)_(53449569_?)del
NC_000023.10:g.(?_53449431)_(53449549_?)del
NM_006306.4(SMC1A):c.*1028C>T rs1057515967
NM_006306.4(SMC1A):c.*1240A>G rs1057515966
NM_006306.4(SMC1A):c.*1559G>A rs782736361
NM_006306.4(SMC1A):c.*1967C>T rs2075567451
NM_006306.4(SMC1A):c.*2490T>C rs1057515962
NM_006306.4(SMC1A):c.*2936C>T rs782494133
NM_006306.4(SMC1A):c.*3305A>G rs1057515960
NM_006306.4(SMC1A):c.*3807G>A rs1057515958
NM_006306.4(SMC1A):c.*5051G>T rs2075555081
NM_006306.4(SMC1A):c.*5352C>T rs1057515953
NM_006306.4(SMC1A):c.*5443C>G rs375348750
NM_006306.4(SMC1A):c.*5506A>T rs2075553176
NM_006306.4(SMC1A):c.*5722A>T rs2075552232
NM_006306.4(SMC1A):c.*5853A>G rs2075551728
NM_006306.4(SMC1A):c.*5915T>C rs1057515951
NM_006306.4(SMC1A):c.*626A>G rs1057515970
NM_006306.4(SMC1A):c.*665A>G rs1057515969
NM_006306.4(SMC1A):c.1005G>T (p.Glu335Asp) rs2520957574
NM_006306.4(SMC1A):c.1050T>C (p.Phe350=) rs2146604747
NM_006306.4(SMC1A):c.1056A>G (p.Glu352=) rs2520957246
NM_006306.4(SMC1A):c.1059G>A (p.Arg353=) rs2520957187
NM_006306.4(SMC1A):c.109+16C>T
NM_006306.4(SMC1A):c.109+19C>A rs933977903
NM_006306.4(SMC1A):c.109+19C>T rs933977903
NM_006306.4(SMC1A):c.109+575dup rs2075758478
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer) rs2146614137
NM_006306.4(SMC1A):c.110-12C>T rs2520971227
NM_006306.4(SMC1A):c.110-16G>A rs929835697
NM_006306.4(SMC1A):c.110-19C>T rs782216018
NM_006306.4(SMC1A):c.1102G>A (p.Glu368Lys) rs2146604722
NM_006306.4(SMC1A):c.110G>T (p.Gly37Val) rs1569359540
NM_006306.4(SMC1A):c.1113+16G>C rs2520956875
NM_006306.4(SMC1A):c.1113+17del rs782576450
NM_006306.4(SMC1A):c.1114-20C>T
NM_006306.4(SMC1A):c.1114-21_1114-19del rs2520956498
NM_006306.4(SMC1A):c.1114-2A>G rs1569358628
NM_006306.4(SMC1A):c.1114-3C>T rs1556890570
NM_006306.4(SMC1A):c.1125C>T (p.Tyr375=) rs782665492
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.1149C>G (p.Ser383Arg) rs2520956183
NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu) rs2075714342
NM_006306.4(SMC1A):c.1152G>A (p.Lys384=) rs782641900
NM_006306.4(SMC1A):c.1158A>G (p.Ala386=) rs2075714290
NM_006306.4(SMC1A):c.1169C>T (p.Ala390Val)
NM_006306.4(SMC1A):c.116C>G (p.Ser39Ter) rs1057518670
NM_006306.4(SMC1A):c.1171C>T (p.Gln391Ter) rs2146604602
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.4(SMC1A):c.1191T>C (p.Asn397=) rs2520955972
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn) rs2075714119
NM_006306.4(SMC1A):c.1212G>A (p.Gln404=) rs2146604588
NM_006306.4(SMC1A):c.1213G>A (p.Asp405Asn) rs2520955896
NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val) rs2520955837
NM_006306.4(SMC1A):c.1221G>A (p.Leu407=)
NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln) rs781890390
NM_006306.4(SMC1A):c.1239G>A (p.Lys413=) rs2520955796
NM_006306.4(SMC1A):c.123C>G (p.Leu41=)
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.1254+17A>G rs2146604554
NM_006306.4(SMC1A):c.1254+8A>G rs2075713975
NM_006306.4(SMC1A):c.1255-19T>G rs782430751
NM_006306.4(SMC1A):c.125T>C (p.Met42Thr)
NM_006306.4(SMC1A):c.1267C>A (p.Gln423Lys) rs587784404
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=) rs2075703211
NM_006306.4(SMC1A):c.1274T>C (p.Leu425Pro)
NM_006306.4(SMC1A):c.1276_1282del (p.Arg426fs) rs2520945062
NM_006306.4(SMC1A):c.127G>A (p.Asp43Asn) rs2520971102
NM_006306.4(SMC1A):c.128A>T (p.Asp43Val) rs1569359535
NM_006306.4(SMC1A):c.1299del (p.Lys433fs) rs1602411858
NM_006306.4(SMC1A):c.12G>C (p.Leu4=) rs2146614125
NM_006306.4(SMC1A):c.1335C>T (p.Ser445=) rs2520944818
NM_006306.4(SMC1A):c.1337+17C>T rs2075702882
NM_006306.4(SMC1A):c.1338-12C>G rs2075702375
NM_006306.4(SMC1A):c.1338-12del rs781839765
NM_006306.4(SMC1A):c.1338-4G>A rs2146602390
NM_006306.4(SMC1A):c.1338-4G>C rs2146602390
NM_006306.4(SMC1A):c.1338-9A>G
NM_006306.4(SMC1A):c.1369G>C (p.Gly457Arg) rs2520943336
NM_006306.4(SMC1A):c.1370G>C (p.Gly457Ala) rs2075702239
NM_006306.4(SMC1A):c.1388_1389insC (p.Glu464fs) rs1057519398
NM_006306.4(SMC1A):c.1389G>A (p.Val463=)
NM_006306.4(SMC1A):c.1396G>T (p.Ala466Ser) rs2520943156
NM_006306.4(SMC1A):c.1402C>A (p.Arg468=) rs1556890154
NM_006306.4(SMC1A):c.1404G>A (p.Arg468=) rs2520943131
NM_006306.4(SMC1A):c.1405C>T (p.Arg469Cys)
NM_006306.4(SMC1A):c.140T>G (p.Phe47Cys) rs1569359530
NM_006306.4(SMC1A):c.1412A>G (p.Asp471Gly) rs2146602338
NM_006306.4(SMC1A):c.1425G>A (p.Lys475=) rs2075702025
NM_006306.4(SMC1A):c.1428G>A (p.Glu476=) rs2146602309
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro) rs2075701962
NM_006306.4(SMC1A):c.1447del (p.Gln483fs) rs2520942867
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.1465A>G (p.Ile489Val)
NM_006306.4(SMC1A):c.1467C>T (p.Ile489=) rs782437338
NM_006306.4(SMC1A):c.1478A>C (p.Glu493Ala) rs122454122
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys) rs2075701790
NM_006306.4(SMC1A):c.1486dup (p.Arg496fs)
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.4(SMC1A):c.1488C>A (p.Arg496=) rs2520942696
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.4(SMC1A):c.1497A>C (p.Arg499=) rs2146602244
NM_006306.4(SMC1A):c.1545+18A>G rs1602411642
NM_006306.4(SMC1A):c.1545+19C>T
NM_006306.4(SMC1A):c.1546-10C>G rs2146600160
NM_006306.4(SMC1A):c.1546-13C>G rs1556889657
NM_006306.4(SMC1A):c.1546-2A>C rs2520930904
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His) rs2146600129
NM_006306.4(SMC1A):c.157dup (p.Thr53fs) rs2075726992
NM_006306.4(SMC1A):c.1607A>G (p.Lys536Arg) rs2146600076
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly) rs2520930497
NM_006306.4(SMC1A):c.1647G>A (p.Ser549=)
NM_006306.4(SMC1A):c.1647G>C (p.Ser549=) rs782582676
NM_006306.4(SMC1A):c.1653G>A (p.Lys551=) rs2520930431
NM_006306.4(SMC1A):c.1665C>G (p.Asp555Glu) rs2520930403
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln) rs2075689185
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg) rs2075689167
NM_006306.4(SMC1A):c.1694G>A (p.Gly565Glu) rs2146600012
NM_006306.4(SMC1A):c.1695G>T (p.Gly565=) rs2520930201
NM_006306.4(SMC1A):c.1696G>A (p.Glu566Lys) rs2146600005
NM_006306.4(SMC1A):c.1707C>G (p.Thr569=)
NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser) rs2520930073
NM_006306.4(SMC1A):c.1715C>T (p.Pro572Leu) rs2520930054
NM_006306.4(SMC1A):c.1717del (p.Asp574fs) rs2520930037
NM_006306.4(SMC1A):c.1731+3G>T rs2075688980
NM_006306.4(SMC1A):c.1732-19A>G rs2146599868
NM_006306.4(SMC1A):c.1732-6C>T rs1556889600
NM_006306.4(SMC1A):c.1732-7C>A rs2520929500
NM_006306.4(SMC1A):c.173_187del (p.Val58_Arg62del) rs2520970863
NM_006306.4(SMC1A):c.1754T>C (p.Leu585Pro) rs587784406
NM_006306.4(SMC1A):c.1756C>T (p.Arg586Trp) rs2146599836
NM_006306.4(SMC1A):c.1782G>A (p.Val594=) rs1556889593
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs) rs1602410239
NM_006306.4(SMC1A):c.1799A>T (p.Tyr600Phe) rs2520929186
NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg) rs2520929027
NM_006306.4(SMC1A):c.1842C>T (p.Gly614=)
NM_006306.4(SMC1A):c.1844A>G (p.Asn615Ser) rs2146599772
NM_006306.4(SMC1A):c.1847C>T (p.Ala616Val) rs782196047
NM_006306.4(SMC1A):c.1876C>T (p.Arg626Cys) rs1556889577
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.4(SMC1A):c.1899C>T (p.His633=) rs1309154280
NM_006306.4(SMC1A):c.1904G>A (p.Arg635His) rs2146599709
NM_006306.4(SMC1A):c.1906C>T (p.His636Tyr) rs2520928669
NM_006306.4(SMC1A):c.1911+11C>T rs2520928595
NM_006306.4(SMC1A):c.1911+16C>T
NM_006306.4(SMC1A):c.1911+18C>T rs2520928553
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=) rs2075687850
NM_006306.4(SMC1A):c.1912-10C>G rs2520928095
NM_006306.4(SMC1A):c.1912-15C>G
NM_006306.4(SMC1A):c.1912-4G>T rs2075687357
NM_006306.4(SMC1A):c.1920A>T (p.Ala640=) rs1556889545
NM_006306.4(SMC1A):c.1927G>T (p.Gly643Ter) rs2520927961
NM_006306.4(SMC1A):c.192G>C (p.Leu64=) rs2146606701
NM_006306.4(SMC1A):c.1932C>T (p.Thr644=)
NM_006306.4(SMC1A):c.1935A>C (p.Leu645=) rs1198815162
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe) rs2075687166
NM_006306.4(SMC1A):c.1961G>T (p.Gly654Val) rs2520927817
NM_006306.4(SMC1A):c.1962T>G (p.Gly654=) rs2520927803
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu) rs1602410098
NM_006306.4(SMC1A):c.1977G>A (p.Leu659=) rs2146599598
NM_006306.4(SMC1A):c.1986G>A (p.Lys662=)
NM_006306.4(SMC1A):c.1989_1995del (p.Arg664fs) rs2520927640
NM_006306.4(SMC1A):c.1992G>A (p.Arg664=)
NM_006306.4(SMC1A):c.1994G>A (p.Arg665His) rs2520927651
NM_006306.4(SMC1A):c.2028G>A (p.Glu676=)
NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del) rs2146599562
NM_006306.4(SMC1A):c.2035G>T (p.Glu679Ter) rs1569356968
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del) rs797045992
NM_006306.4(SMC1A):c.2049G>A (p.Glu683=) rs1449231560
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=) rs2075686281
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val) rs2075686262
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.4(SMC1A):c.2088A>G (p.Ala696=) rs1602409921
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys) rs2075686139
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.4(SMC1A):c.2132_2139del (p.Arg711fs) rs2146599324
NM_006306.4(SMC1A):c.2146C>T (p.Gln716Ter) rs2520926208
NM_006306.4(SMC1A):c.2156T>C (p.Leu719Pro) rs2520926178
NM_006306.4(SMC1A):c.2157A>G (p.Leu719=) rs1255531738
NM_006306.4(SMC1A):c.2160A>G (p.Glu720=) rs2146599315
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter) rs2075685944
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile) rs2520926054
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter) rs2146599304
NM_006306.4(SMC1A):c.2182G>T (p.Ala728Ser)
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=) rs968499171
NM_006306.4(SMC1A):c.2226C>T (p.Ala742=) rs2520921089
NM_006306.4(SMC1A):c.2229C>T (p.Asn743=) rs2520921058
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter) rs1556889269
NM_006306.4(SMC1A):c.2278A>C (p.Arg760=) rs2520920881
NM_006306.4(SMC1A):c.2291A>G (p.Asp764Gly) rs2520920832
NM_006306.4(SMC1A):c.2299_2301del (p.Glu767del) rs2520920739
NM_006306.4(SMC1A):c.2313+3T>G rs782384493
NM_006306.4(SMC1A):c.2314-12T>C rs2520920088
NM_006306.4(SMC1A):c.2314-15G>A rs2146598343
NM_006306.4(SMC1A):c.2314-2A>G rs1602409271
NM_006306.4(SMC1A):c.2314-2A>T rs1602409271
NM_006306.4(SMC1A):c.2314-5C>T rs2520920071
NM_006306.4(SMC1A):c.2314-7T>C
NM_006306.4(SMC1A):c.2314-7_2314-3del rs2146598341
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu) rs2075680361
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn) rs2075680329
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr) rs2075680329
NM_006306.4(SMC1A):c.2327T>A (p.Val776Glu) rs587784410
NM_006306.4(SMC1A):c.2328G>A (p.Val776=) rs2146598325
NM_006306.4(SMC1A):c.2329T>C (p.Phe777Leu) rs1556889236
NM_006306.4(SMC1A):c.2341T>C (p.Cys781Arg) rs2146598316
NM_006306.4(SMC1A):c.2343T>A (p.Cys781Ter) rs2520919876
NM_006306.4(SMC1A):c.2346G>C (p.Arg782=) rs782047870
NM_006306.4(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2353G>T (p.Gly785Cys) rs1226562040
NM_006306.4(SMC1A):c.2360G>A (p.Arg787His) rs782402477
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln) rs797045993
NM_006306.4(SMC1A):c.2382A>G (p.Glu794=) rs2146598260
NM_006306.4(SMC1A):c.2394dup (p.Arg799fs) rs1569356555
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter) rs2146598241
NM_006306.4(SMC1A):c.2414A>G (p.Lys805Arg)
NM_006306.4(SMC1A):c.241A>G (p.Ser81Gly)
NM_006306.4(SMC1A):c.2420+5G>A rs1556889217
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006306.4(SMC1A):c.2421-15del rs781926382
NM_006306.4(SMC1A):c.2421-15dup rs781926382
NM_006306.4(SMC1A):c.2421-16C>G rs782313664
NM_006306.4(SMC1A):c.2421-3_2421-2del rs2075664421
NM_006306.4(SMC1A):c.2434A>G (p.Asn812Asp)
NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter) rs2146595540
NM_006306.4(SMC1A):c.243C>T (p.Ser81=) rs2520970673
NM_006306.4(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
NM_006306.4(SMC1A):c.2447G>A (p.Arg816His) rs886044819
NM_006306.4(SMC1A):c.2451G>A (p.Leu817=)
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser) rs587784413
NM_006306.4(SMC1A):c.2487G>A (p.Lys829=) rs2520904790
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu) rs1602407457
NM_006306.4(SMC1A):c.2498A>G (p.Asp833Gly) rs2520904717
NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu) rs1556888569
NM_006306.4(SMC1A):c.2514G>A (p.Trp838Ter) rs2520904563
NM_006306.4(SMC1A):c.2523A>G (p.Thr841=) rs2520904525
NM_006306.4(SMC1A):c.2524G>A (p.Val842Met)
NM_006306.4(SMC1A):c.2547del (p.Ile849fs) rs797045069
NM_006306.4(SMC1A):c.2555T>C (p.Leu852Pro) rs2520904353
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=) rs1602407405
NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln) rs2520904318
NM_006306.4(SMC1A):c.2562+11A>G
NM_006306.4(SMC1A):c.2562+13A>G rs2520904266
NM_006306.4(SMC1A):c.2563-13C>T rs2520893149
NM_006306.4(SMC1A):c.2563-3C>G rs372708074
NM_006306.4(SMC1A):c.2563-4C>T
NM_006306.4(SMC1A):c.2568A>G (p.Glu856=) rs2146593670
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=) rs1602405816
NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr) rs782302182
NM_006306.4(SMC1A):c.2592T>C (p.Asp864=) rs2075652167
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006306.4(SMC1A):c.2614G>A (p.Asp872Asn) rs2146593635
NM_006306.4(SMC1A):c.261_272del (p.Glu87_Glu90del) rs1569359505
NM_006306.4(SMC1A):c.2658C>T (p.Asp886=)
NM_006306.4(SMC1A):c.2671A>G (p.Met891Val) rs2146593592
NM_006306.4(SMC1A):c.2683C>T (p.Arg895Cys)
NM_006306.4(SMC1A):c.2700C>G (p.Gly900=) rs186510389
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=) rs186510389
NM_006306.4(SMC1A):c.2708+12C>G rs1602405700
NM_006306.4(SMC1A):c.2708A>G (p.Lys903Arg) rs1569355072
NM_006306.4(SMC1A):c.2709-16C>G rs2520891796
NM_006306.4(SMC1A):c.2709-4T>A rs1602405648
NM_006306.4(SMC1A):c.2717C>T (p.Thr906Ile) rs2146593520
NM_006306.4(SMC1A):c.2727G>T (p.Gln909His) rs2520891639
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del) rs2075651266
NM_006306.4(SMC1A):c.2739A>G (p.Thr913=) rs2146593498
NM_006306.4(SMC1A):c.2742C>T (p.Ala914=) rs2520891550
NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr) rs2520891453
NM_006306.4(SMC1A):c.2767C>T (p.Arg923Cys) rs2520891400
NM_006306.4(SMC1A):c.2777G>A (p.Arg926His) rs2520891351
NM_006306.4(SMC1A):c.277_288del (p.Thr93_Arg96del) rs2520970438
NM_006306.4(SMC1A):c.2785T>C (p.Leu929=) rs2520891263
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro) rs2146593453
NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr) rs369625058
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter) rs1602405588
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer) rs2146593421
NM_006306.4(SMC1A):c.2851del (p.Ser951fs)
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.2862+15T>C rs2520890680
NM_006306.4(SMC1A):c.2862+3G>C rs2075650901
NM_006306.4(SMC1A):c.2862+4A>G rs1445281439
NM_006306.4(SMC1A):c.2863-13G>A rs1556887784
NM_006306.4(SMC1A):c.2863-6T>C rs2520885381
NM_006306.4(SMC1A):c.2863-9C>G rs371102918
NM_006306.4(SMC1A):c.2867G>T (p.Ser956Ile) rs1556887779
NM_006306.4(SMC1A):c.286C>T (p.Arg96Cys) rs2146606642
NM_006306.4(SMC1A):c.286del (p.Arg96fs)
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs) rs1602404847
NM_006306.4(SMC1A):c.2873A>G (p.Gln958Arg) rs1253991330
NM_006306.4(SMC1A):c.2882A>T (p.Asp961Val) rs2146592435
NM_006306.4(SMC1A):c.2887G>C (p.Val963Leu) rs2146592426
NM_006306.4(SMC1A):c.2890A>G (p.Ser964Gly) rs2520885081
NM_006306.4(SMC1A):c.2890_2893del (p.Ser964fs) rs2520885035
NM_006306.4(SMC1A):c.2895T>C (p.Gly965=) rs2075645097
NM_006306.4(SMC1A):c.2899C>T (p.Gln967Ter) rs2146592415
NM_006306.4(SMC1A):c.2902A>C (p.Arg968=)
NM_006306.4(SMC1A):c.2904A>G (p.Arg968=)
NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile) rs2520884876
NM_006306.4(SMC1A):c.2919T>C (p.Tyr973=) rs2520884815
NM_006306.4(SMC1A):c.2922A>G (p.Ala974=) rs2520884787
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter) rs2146592407
NM_006306.4(SMC1A):c.2928G>A (p.Glu976=) rs2520884735
NM_006306.4(SMC1A):c.2943T>C (p.Ile981=) rs2520884678
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys) rs1556887759
NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val) rs2520884521
NM_006306.4(SMC1A):c.2973+12C>T rs2520884384
NM_006306.4(SMC1A):c.2973+14A>C
NM_006306.4(SMC1A):c.2973+16A>G rs1556887749
NM_006306.4(SMC1A):c.2973+16A>T rs1556887749
NM_006306.4(SMC1A):c.2973+18G>A rs782310979
NM_006306.4(SMC1A):c.2973+18G>C rs782310979
NM_006306.4(SMC1A):c.2973+1G>A rs2520884503
NM_006306.4(SMC1A):c.2973+20G>A rs1363493677
NM_006306.4(SMC1A):c.2973+5G>A
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=) rs2075644860
NM_006306.4(SMC1A):c.2974-8G>T
NM_006306.4(SMC1A):c.2974-9G>A rs2146583272
NM_006306.4(SMC1A):c.2977G>A (p.Ala993Thr)
NM_006306.4(SMC1A):c.2979C>T (p.Ala993=) rs2146583246
NM_006306.4(SMC1A):c.298+9G>A rs1556891082
NM_006306.4(SMC1A):c.2988G>A (p.Glu996=)
NM_006306.4(SMC1A):c.298G>C (p.Gly100Arg) rs1569359487
NM_006306.4(SMC1A):c.299-12A>G rs2520969842
NM_006306.4(SMC1A):c.299-14G>A rs2146606574
NM_006306.4(SMC1A):c.299-19C>T rs2520969884
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter) rs1602398950
NM_006306.4(SMC1A):c.3024G>A (p.Gln1008=) rs2146583203
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg) rs2520828709
NM_006306.4(SMC1A):c.302del (p.Gly101fs) rs2146606566
NM_006306.4(SMC1A):c.3039G>C (p.Gln1013His) rs2520828638
NM_006306.4(SMC1A):c.3043_3044del (p.Ser1015fs)
NM_006306.4(SMC1A):c.304T>G (p.Ser102Ala) rs2146606564
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg) rs2075591743
NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006306.4(SMC1A):c.3070A>T (p.Asn1024Tyr) rs587784415
NM_006306.4(SMC1A):c.3098del (p.Ser1033fs) rs2520828155
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs) rs2075591559
NM_006306.4(SMC1A):c.3126A>G (p.Ser1042=) rs1556886121
NM_006306.4(SMC1A):c.3130+11C>G rs1556886120
NM_006306.4(SMC1A):c.3131-15C>T rs1556886052
NM_006306.4(SMC1A):c.3131-17_3131-16inv
NM_006306.4(SMC1A):c.3131-4del rs781881228
NM_006306.4(SMC1A):c.3131-5G>C rs782136727
NM_006306.4(SMC1A):c.3131-7C>T rs2520824894
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter) rs2146582701
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.4(SMC1A):c.3151C>T (p.Arg1051Ter) rs1569351907
NM_006306.4(SMC1A):c.3174A>G (p.Ala1058=) rs1432130956
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys) rs1057521921
NM_006306.4(SMC1A):c.3187AAG[1] (p.Lys1064del) rs2075588362
NM_006306.4(SMC1A):c.3196C>A (p.Arg1066Ser) rs797044896
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys) rs797044896
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.4(SMC1A):c.3198C>T (p.Arg1066=) rs2520824368
NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly) rs2075588188
NM_006306.4(SMC1A):c.3205C>T (p.Arg1069Cys) rs2075588188
NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe) rs2146582586
NM_006306.4(SMC1A):c.3235A>G (p.Thr1079Ala) rs1602398590
NM_006306.4(SMC1A):c.3249G>A (p.Glu1083=) rs2520823972
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs) rs2075587887
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met) rs587784417
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter) rs2520823863
NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr) rs2520823721
NM_006306.4(SMC1A):c.3283C>T (p.Gln1095Ter) rs2520823699
NM_006306.4(SMC1A):c.3285+10A>G
NM_006306.4(SMC1A):c.3285+12C>T
NM_006306.4(SMC1A):c.3286-4del rs782700135
NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr) rs1131692271
NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser) rs2146582465
NM_006306.4(SMC1A):c.3306C>T (p.Asn1102=) rs797045994
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr) rs2146582443
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe) rs2146582443
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) rs2075586377
NM_006306.4(SMC1A):c.3367C>T (p.Arg1123Trp) rs2146582432
NM_006306.4(SMC1A):c.336C>G (p.Val112=) rs2520969538
NM_006306.4(SMC1A):c.3373A>G (p.Met1125Val) rs1057519499
NM_006306.4(SMC1A):c.3422T>C (p.Leu1141Pro) rs2520822018
NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg) rs2520821973
NM_006306.4(SMC1A):c.3437+12C>A rs2146582406
NM_006306.4(SMC1A):c.3437+19G>A
NM_006306.4(SMC1A):c.3437+1G>A rs2146582412
NM_006306.4(SMC1A):c.3438-12G>T rs2146581650
NM_006306.4(SMC1A):c.3438-8C>T rs2520815815
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=) rs142611198
NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp) rs1569351534
NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu) rs1556885815
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp) rs868961188
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr) rs1556885810
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006306.4(SMC1A):c.34T>G (p.Phe12Val) rs2146614101
NM_006306.4(SMC1A):c.3507+3G>A rs1556885809
NM_006306.4(SMC1A):c.3507+5G>A rs2520815275
NM_006306.4(SMC1A):c.3508-13G>T rs2520813470
NM_006306.4(SMC1A):c.3508-2A>G rs2146581345
NM_006306.4(SMC1A):c.3508-5C>T
NM_006306.4(SMC1A):c.3508-6C>T rs2520813403
NM_006306.4(SMC1A):c.3508-7C>T
NM_006306.4(SMC1A):c.351C>T (p.Tyr117=) rs2520969461
NM_006306.4(SMC1A):c.3529C>G (p.Gln1177Glu)
NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg) rs1556885770
NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu) rs2520813308
NM_006306.4(SMC1A):c.3534G>A (p.Ser1178=)
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.3549G>A (p.Gln1183=) rs2146581326
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) rs863225459
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=) rs2146581314
NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala) rs587784419
NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val) rs2146581303
NM_006306.4(SMC1A):c.3568A>C (p.Lys1190Gln) rs1057524798
NM_006306.4(SMC1A):c.357G>A (p.Glu119=) rs1029414749
NM_006306.4(SMC1A):c.3591C>G (p.Ala1197=) rs146216425
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) rs782175064
NM_006306.4(SMC1A):c.3592G>C (p.Glu1198Gln) rs782175064
NM_006306.4(SMC1A):c.3612T>C (p.Tyr1204=)
NM_006306.4(SMC1A):c.3619-16C>T rs1556885717
NM_006306.4(SMC1A):c.3621A>G (p.Gln1207=) rs2146581022
NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn) rs2520810087
NM_006306.4(SMC1A):c.3638G>A (p.Ser1213Asn) rs1569351352
NM_006306.4(SMC1A):c.3651C>T (p.Thr1217=) rs2146581010
NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del) rs1569351341
NM_006306.4(SMC1A):c.3655_3656insCCG (p.Phe1218_Asp1219insAla) rs2075576498
NM_006306.4(SMC1A):c.3660C>T (p.Leu1220=) rs1348100944
NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala) rs2146580992
NM_006306.4(SMC1A):c.3663C>G (p.Thr1221=) rs28997583
NM_006306.4(SMC1A):c.3663C>T (p.Thr1221=) rs28997583
NM_006306.4(SMC1A):c.3671C>A (p.Pro1224Gln) rs2520809740
NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter) rs1556891045
NM_006306.4(SMC1A):c.374del (p.Gly125fs) rs2520969372
NM_006306.4(SMC1A):c.378T>A (p.Ile126=) rs2520969349
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln) rs2075764777
NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys) rs2520969249
NM_006306.4(SMC1A):c.392G>A (p.Arg131His) rs781903928
NM_006306.4(SMC1A):c.392del (p.Arg131fs) rs2075725850
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val) rs2075725792
NM_006306.4(SMC1A):c.399C>T (p.Phe133=) rs1463042305
NM_006306.4(SMC1A):c.411+1G>C rs2146606502
NM_006306.4(SMC1A):c.412-12G>A
NM_006306.4(SMC1A):c.412-12G>T rs372791352
NM_006306.4(SMC1A):c.412-7T>C rs2520963926
NM_006306.4(SMC1A):c.412-9C>T rs2075720879
NM_006306.4(SMC1A):c.421G>A (p.Glu141Lys) rs587784420
NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser) rs2146605688
NM_006306.4(SMC1A):c.441C>T (p.Asn147=) rs2520963756
NM_006306.4(SMC1A):c.444C>G (p.Pro148=) rs2520963731
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys) rs2075720794
NM_006306.4(SMC1A):c.462A>G (p.Leu154=) rs2146605662
NM_006306.4(SMC1A):c.474T>C (p.Ile158=) rs2520963555
NM_006306.4(SMC1A):c.481del (p.Ser161fs) rs2146605644
NM_006306.4(SMC1A):c.483T>C (p.Ser161=) rs782286610
NM_006306.4(SMC1A):c.489G>A (p.Glu163=) rs2520963350
NM_006306.4(SMC1A):c.497A>G (p.Gln166Arg) rs2146605622
NM_006306.4(SMC1A):c.4G>C (p.Gly2Arg) rs2075764895
NM_006306.4(SMC1A):c.511C>T (p.Arg171Ter) rs2520963220
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln) rs2075720519
NM_006306.4(SMC1A):c.526G>A (p.Val176Met) rs2520963158
NM_006306.4(SMC1A):c.528G>A (p.Val176=) rs1359837999
NM_006306.4(SMC1A):c.52C>T (p.Arg18Ter) rs2521010322
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter) rs587784421
NM_006306.4(SMC1A):c.547_548del (p.Gln183fs) rs2146605568
NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys) rs2146605558
NM_006306.4(SMC1A):c.578C>T (p.Ala193Val) rs2520962974
NM_006306.4(SMC1A):c.582T>C (p.Ala194=) rs2520962939
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter) rs1602413582
NM_006306.4(SMC1A):c.586C>G (p.Arg196Gly) rs587784422
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.587G>A (p.Arg196His) rs1556890815
NM_006306.4(SMC1A):c.615+2T>C rs868985177
NM_006306.4(SMC1A):c.615+8G>A rs2520962778
NM_006306.4(SMC1A):c.616-2A>G rs587784423
NM_006306.4(SMC1A):c.616-7del rs1312306004
NM_006306.4(SMC1A):c.622C>T (p.Arg208Trp)
NM_006306.4(SMC1A):c.628C>T (p.Gln210Ter) rs2146605443
NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln) rs2075719827
NM_006306.4(SMC1A):c.655del (p.Ala219fs) rs1569359048
NM_006306.4(SMC1A):c.666G>A (p.Gln222=) rs2146605417
NM_006306.4(SMC1A):c.669G>C (p.Leu223=) rs1556890780
NM_006306.4(SMC1A):c.678T>C (p.Phe226=) rs2146605400
NM_006306.4(SMC1A):c.732A>G (p.Ser244=) rs1193851590
NM_006306.4(SMC1A):c.733_734del (p.Lys245fs) rs2146605369
NM_006306.4(SMC1A):c.738C>A (p.Asn246Lys) rs2520961607
NM_006306.4(SMC1A):c.739A>G (p.Lys247Glu) rs2075719463
NM_006306.4(SMC1A):c.744_755del (p.Glu248_Lys251del) rs2146605357
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu) rs370671274
NM_006306.4(SMC1A):c.761del (p.Lys254fs) rs2146605339
NM_006306.4(SMC1A):c.764G>C (p.Arg255Pro) rs782606119
NM_006306.4(SMC1A):c.792G>A (p.Lys264=)
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773
NM_006306.4(SMC1A):c.800A>G (p.Lys267Arg) rs2520961160
NM_006306.4(SMC1A):c.812G>A (p.Gly271Asp) rs2146605306
NM_006306.4(SMC1A):c.813C>T (p.Gly271=) rs1556890754
NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln) rs2520960966
NM_006306.4(SMC1A):c.82A>G (p.Thr28Ala)
NM_006306.4(SMC1A):c.854+6_854+7del rs1569358983
NM_006306.4(SMC1A):c.855-12C>T rs1556890634
NM_006306.4(SMC1A):c.855-13C>G
NM_006306.4(SMC1A):c.855-17C>T rs2520958334
NM_006306.4(SMC1A):c.855-1G>A rs2520958208
NM_006306.4(SMC1A):c.855-6C>T
NM_006306.4(SMC1A):c.859_861del (p.Lys287del) rs1556890626
NM_006306.4(SMC1A):c.867A>G (p.Ser289=) rs2146604827
NM_006306.4(SMC1A):c.887C>G (p.Pro296Arg)
NM_006306.4(SMC1A):c.907G>T (p.Glu303Ter)
NM_006306.4(SMC1A):c.909G>C (p.Glu303Asp) rs2520958047
NM_006306.4(SMC1A):c.917C>A (p.Ser306Tyr) rs2146604807
NM_006306.4(SMC1A):c.920A>G (p.His307Arg) rs1556890616
NM_006306.4(SMC1A):c.937G>A (p.Glu313Lys) rs2520957938
NM_006306.4(SMC1A):c.951G>A (p.Lys317=) rs2146604793
NM_006306.4(SMC1A):c.955_956del (p.Leu319fs) rs2520957861
NM_006306.4(SMC1A):c.95G>A (p.Gly32Glu) rs1556892359
NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu) rs2520957778
NM_006306.4(SMC1A):c.972G>A (p.Lys324=) rs2520957759
NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe) rs2520957741
NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro) rs782449052
NM_006306.4(SMC1A):c.987T>C (p.Arg329=)
SMC1A, 8.152-KB DEL

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