NC_000023.10:g.(?_53407004)_(53449569_?)dup
|
|
NC_000023.10:g.(?_53430478)_(53432101_?)del
|
|
NC_000023.10:g.(?_53448825)_(53449569_?)del
|
|
NM_001281463.1(SMC1A):c.*1028C>T
|
rs1057515967 |
NM_001281463.1(SMC1A):c.*1239T>C
|
rs782502306 |
NM_001281463.1(SMC1A):c.*1240A>G
|
rs1057515966 |
NM_001281463.1(SMC1A):c.*1559G>A
|
rs782736361 |
NM_001281463.1(SMC1A):c.*1961C>T
|
rs986586627 |
NM_001281463.1(SMC1A):c.*2050T>C
|
rs1057515964 |
NM_001281463.1(SMC1A):c.*2225G>A
|
rs1047323522 |
NM_001281463.1(SMC1A):c.*2423G>A
|
rs147324052 |
NM_001281463.1(SMC1A):c.*2435T>G
|
rs782650092 |
NM_001281463.1(SMC1A):c.*2490T>C
|
rs1057515962 |
NM_001281463.1(SMC1A):c.*2609A>C
|
rs192734396 |
NM_001281463.1(SMC1A):c.*2663C>T
|
rs1057515961 |
NM_001281463.1(SMC1A):c.*2856A>T
|
rs148128199 |
NM_001281463.1(SMC1A):c.*2948G>T
|
rs183355603 |
NM_001281463.1(SMC1A):c.*3305A>G
|
rs1057515960 |
NM_001281463.1(SMC1A):c.*3421G>T
|
rs41304780 |
NM_001281463.1(SMC1A):c.*3671C>T
|
rs1057515959 |
NM_001281463.1(SMC1A):c.*3777C>G
|
rs41315082 |
NM_001281463.1(SMC1A):c.*3807G>A
|
rs1057515958 |
NM_001281463.1(SMC1A):c.*381A>G
|
rs184957599 |
NM_001281463.1(SMC1A):c.*3851A>T
|
rs782817464 |
NM_001281463.1(SMC1A):c.*4087G>A
|
rs1057515957 |
NM_001281463.1(SMC1A):c.*41G>A
|
rs782548345 |
NM_001281463.1(SMC1A):c.*4382A>G
|
rs906340789 |
NM_001281463.1(SMC1A):c.*4443G>A
|
rs782630117 |
NM_001281463.1(SMC1A):c.*4581T>C
|
rs1057515955 |
NM_001281463.1(SMC1A):c.*5016T>C
|
rs17002602 |
NM_001281463.1(SMC1A):c.*5197T>C
|
rs782050365 |
NM_001281463.1(SMC1A):c.*5352C>T
|
rs1057515953 |
NM_001281463.1(SMC1A):c.*5355G>A
|
rs782143840 |
NM_001281463.1(SMC1A):c.*5444G>A
|
rs181871602 |
NM_001281463.1(SMC1A):c.*5481G>A
|
rs147896900 |
NM_001281463.1(SMC1A):c.*5692G>A
|
rs1057515952 |
NM_001281463.1(SMC1A):c.*5915T>C
|
rs1057515951 |
NM_001281463.1(SMC1A):c.*626A>G
|
rs1057515970 |
NM_001281463.1(SMC1A):c.*665A>G
|
rs1057515969 |
NM_001281463.1(SMC1A):c.*703G>T
|
rs189126241 |
NM_001281463.1(SMC1A):c.-118G>A
|
rs1556892359 |
NM_001281463.1(SMC1A):c.-150C>T
|
rs781999328 |
NM_001281463.1(SMC1A):c.-213C>T
|
rs797044618 |
NM_001281463.1(SMC1A):c.-275G>T
|
|
NM_001281463.1(SMC1A):c.1032G>A (p.Thr344=)
|
rs140585416 |
NM_001281463.1(SMC1A):c.1048-2A>G
|
rs1569358628 |
NM_001281463.1(SMC1A):c.1070_1072AAG[2] (p.Glu359del)
|
rs797045991 |
NM_001281463.1(SMC1A):c.1107G>A (p.Gln369=)
|
rs147952638 |
NM_001281463.1(SMC1A):c.1124A>G (p.Asn375Ser)
|
rs782697006 |
NM_001281463.1(SMC1A):c.1127G>A (p.Arg376Gln)
|
rs587784403 |
NM_001281463.1(SMC1A):c.1188+11G>C
|
rs144354524 |
NM_001281463.1(SMC1A):c.1188+5G>A
|
rs1569358589 |
NM_001281463.1(SMC1A):c.1201C>A (p.Gln401Lys)
|
rs587784404 |
NM_001281463.1(SMC1A):c.1257C>T (p.Tyr419=)
|
rs144850468 |
NM_001281463.1(SMC1A):c.1322_1323insC (p.Glu442fs)
|
rs1057519398 |
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly)
|
rs587784405 |
NM_001281463.1(SMC1A):c.1412A>C (p.Glu471Ala)
|
rs122454122 |
NM_001281463.1(SMC1A):c.1421G>A (p.Arg474His)
|
rs122454123 |
NM_001281463.1(SMC1A):c.1479+4A>C
|
rs377270943 |
NM_001281463.1(SMC1A):c.161A>G (p.Asn54Ser)
|
rs200243549 |
NM_001281463.1(SMC1A):c.1632G>A (p.Glu544=)
|
rs7052858 |
NM_001281463.1(SMC1A):c.1688T>C (p.Leu563Pro)
|
rs587784406 |
NM_001281463.1(SMC1A):c.1781C>T (p.Ala594Val)
|
rs782196047 |
NM_001281463.1(SMC1A):c.1806T>G (p.Asp602Glu)
|
rs1369059288 |
NM_001281463.1(SMC1A):c.1810C>T (p.Arg604Cys)
|
rs1556889577 |
NM_001281463.1(SMC1A):c.1811G>A (p.Arg604His)
|
rs587784407 |
NM_001281463.1(SMC1A):c.195_206del (p.Glu65_Glu68del)
|
rs1569359505 |
NM_001281463.1(SMC1A):c.1969G>T (p.Glu657Ter)
|
rs1569356968 |
NM_001281463.1(SMC1A):c.1980_1982del (p.Glu662del)
|
rs797045992 |
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln)
|
rs587784408 |
NM_001281463.1(SMC1A):c.2065C>T (p.Arg689Trp)
|
rs587784409 |
NM_001281463.1(SMC1A):c.2131-5T>C
|
rs2297104 |
NM_001281463.1(SMC1A):c.219C>G (p.Ala73=)
|
rs587784414 |
NM_001281463.1(SMC1A):c.2248-2A>G
|
rs1602409271 |
NM_001281463.1(SMC1A):c.2261T>A (p.Val754Glu)
|
rs587784410 |
NM_001281463.1(SMC1A):c.2284A>G (p.Ile762Val)
|
rs587784411 |
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr)
|
rs387906702 |
NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp)
|
rs587784412 |
NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln)
|
rs797045993 |
NM_001281463.1(SMC1A):c.2328dup (p.Arg777fs)
|
rs1569356555 |
NM_001281463.1(SMC1A):c.232G>C (p.Gly78Arg)
|
rs1569359487 |
NM_001281463.1(SMC1A):c.2354+5G>A
|
rs1556889217 |
NM_001281463.1(SMC1A):c.2354G>A (p.Arg785His)
|
rs1569356550 |
NM_001281463.1(SMC1A):c.2380C>T (p.Arg794Cys)
|
rs1556888586 |
NM_001281463.1(SMC1A):c.2381G>A (p.Arg794His)
|
rs886044819 |
NM_001281463.1(SMC1A):c.2481del (p.Ile827fs)
|
rs797045069 |
NM_001281463.1(SMC1A):c.2642A>G (p.Lys881Arg)
|
rs1569355072 |
NM_001281463.1(SMC1A):c.2643-4T>A
|
rs1602405648 |
NM_001281463.1(SMC1A):c.2672C>T (p.Thr891Ile)
|
rs1569355048 |
NM_001281463.1(SMC1A):c.2726A>G (p.Gln909Arg)
|
rs782728089 |
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=)
|
rs139654605 |
NM_001281463.1(SMC1A):c.2884G>A (p.Gly962Ser)
|
rs782381563 |
NM_001281463.1(SMC1A):c.2911G>T (p.Ala971Ser)
|
rs782127256 |
NM_001281463.1(SMC1A):c.2990_3016delinsTGCAG (p.Arg997fs)
|
rs1556886127 |
NM_001281463.1(SMC1A):c.3004A>T (p.Asn1002Tyr)
|
rs587784415 |
NM_001281463.1(SMC1A):c.3037C>T (p.Arg1013Ter)
|
rs1556886124 |
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln)
|
rs587784416 |
NM_001281463.1(SMC1A):c.3085C>T (p.Arg1029Ter)
|
rs1569351907 |
NM_001281463.1(SMC1A):c.3112G>A (p.Glu1038Lys)
|
rs1057521921 |
NM_001281463.1(SMC1A):c.3120C>G (p.Ile1040Met)
|
rs372307204 |
NM_001281463.1(SMC1A):c.3131G>A (p.Arg1044His)
|
rs1556886034 |
NM_001281463.1(SMC1A):c.3169A>G (p.Thr1057Ala)
|
rs1602398590 |
NM_001281463.1(SMC1A):c.3186C>T (p.Ile1062=)
|
rs587784417 |
NM_001281463.1(SMC1A):c.3188A>G (p.Tyr1063Cys)
|
rs587784418 |
NM_001281463.1(SMC1A):c.3224T>A (p.Phe1075Tyr)
|
rs1131692271 |
NM_001281463.1(SMC1A):c.3307A>G (p.Met1103Val)
|
rs1057519499 |
NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=)
|
rs374246357 |
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=)
|
rs142611198 |
NM_001281463.1(SMC1A):c.3395T>A (p.Val1132Asp)
|
rs1569351534 |
NM_001281463.1(SMC1A):c.3441+3G>A
|
rs1556885809 |
NM_001281463.1(SMC1A):c.346-10C>T
|
rs149219651 |
NM_001281463.1(SMC1A):c.3491T>C (p.Val1164Ala)
|
rs587784419 |
NM_001281463.1(SMC1A):c.3525C>T (p.Ala1175=)
|
rs146216425 |
NM_001281463.1(SMC1A):c.3526G>C (p.Glu1176Gln)
|
rs782175064 |
NM_001281463.1(SMC1A):c.3545A>T (p.Tyr1182Phe)
|
rs781998306 |
NM_001281463.1(SMC1A):c.3552+7C>T
|
rs782267492 |
NM_001281463.1(SMC1A):c.355G>A (p.Glu119Lys)
|
rs587784420 |
NM_001281463.1(SMC1A):c.3586_3597del (p.Phe1196_Thr1199del)
|
rs1569351341 |
NM_001281463.1(SMC1A):c.3597C>T (p.Thr1199=)
|
rs28997583 |
NM_001281463.1(SMC1A):c.428C>T (p.Ala143Val)
|
rs1556890833 |
NM_001281463.1(SMC1A):c.44G>T (p.Gly15Val)
|
rs1569359540 |
NM_001281463.1(SMC1A):c.481C>T (p.Gln161Ter)
|
rs587784421 |
NM_001281463.1(SMC1A):c.50C>G (p.Ser17Ter)
|
rs1057518670 |
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys)
|
rs587784422 |
NM_001281463.1(SMC1A):c.521G>A (p.Arg174His)
|
rs1556890815 |
NM_001281463.1(SMC1A):c.550-2A>G
|
rs587784423 |
NM_001281463.1(SMC1A):c.550-6G>A
|
rs587784424 |
NM_001281463.1(SMC1A):c.589del (p.Ala197fs)
|
rs1569359048 |
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val)
|
rs1556891104 |
NM_001281463.1(SMC1A):c.62A>T (p.Asp21Val)
|
rs1569359535 |
NM_001281463.1(SMC1A):c.633G>A (p.Val211=)
|
rs145319852 |
NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del)
|
rs727503773 |
NM_001281463.1(SMC1A):c.74T>G (p.Phe25Cys)
|
rs1569359530 |
NM_001281463.1(SMC1A):c.789-15C>T
|
rs147791932 |
NM_001281463.1(SMC1A):c.793_795del (p.Lys265del)
|
rs1556890626 |
NM_001281463.1(SMC1A):c.854A>G (p.His285Arg)
|
rs1556890616 |
NM_006306.4(SMC1A):c.*1040G>A
|
|
NM_006306.4(SMC1A):c.*1542T>C
|
|
NM_006306.4(SMC1A):c.*1914A>G
|
|
NM_006306.4(SMC1A):c.*1934T>C
|
|
NM_006306.4(SMC1A):c.*1967C>T
|
|
NM_006306.4(SMC1A):c.*2086T>C
|
|
NM_006306.4(SMC1A):c.*2389G>T
|
|
NM_006306.4(SMC1A):c.*2936C>T
|
|
NM_006306.4(SMC1A):c.*3025C>T
|
|
NM_006306.4(SMC1A):c.*3087G>A
|
|
NM_006306.4(SMC1A):c.*3392T>C
|
|
NM_006306.4(SMC1A):c.*3484G>A
|
|
NM_006306.4(SMC1A):c.*3596C>T
|
|
NM_006306.4(SMC1A):c.*4156A>G
|
|
NM_006306.4(SMC1A):c.*4367T>C
|
|
NM_006306.4(SMC1A):c.*4887T>C
|
|
NM_006306.4(SMC1A):c.*488A>G
|
|
NM_006306.4(SMC1A):c.*4998T>C
|
|
NM_006306.4(SMC1A):c.*5051G>T
|
|
NM_006306.4(SMC1A):c.*5251G>T
|
|
NM_006306.4(SMC1A):c.*5443C>G
|
|
NM_006306.4(SMC1A):c.*5451A>G
|
|
NM_006306.4(SMC1A):c.*5489G>T
|
|
NM_006306.4(SMC1A):c.*5506A>T
|
|
NM_006306.4(SMC1A):c.*5722A>T
|
|
NM_006306.4(SMC1A):c.*578C>T
|
|
NM_006306.4(SMC1A):c.*5853A>G
|
|
NM_006306.4(SMC1A):c.*5855G>T
|
|
NM_006306.4(SMC1A):c.*5946C>T
|
|
NM_006306.4(SMC1A):c.*675A>G
|
|
NM_006306.4(SMC1A):c.*931A>G
|
|
NM_006306.4(SMC1A):c.-7G>A
|
|
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn)
|
|
NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln)
|
|
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)
|
|
NM_006306.4(SMC1A):c.1299del (p.Lys433fs)
|
rs1602411858 |
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro)
|
|
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)
|
|
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln)
|
|
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg)
|
|
NM_006306.4(SMC1A):c.1781_1784TGAT[1] (p.Ile595fs)
|
rs1602410239 |
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=)
|
rs782665597 |
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)
|
|
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
|
|
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu)
|
rs1602410098 |
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His)
|
rs1556889522 |
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=)
|
|
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val)
|
|
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys)
|
|
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter)
|
|
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu)
|
|
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn)
|
|
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr)
|
|
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu)
|
rs1602407457 |
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=)
|
rs1602407405 |
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)
|
|
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)
|
|
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
|
|
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del)
|
|
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter)
|
rs1602405588 |
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)
|
rs863225458 |
NM_006306.4(SMC1A):c.2862+4A>G
|
|
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs)
|
rs1602404847 |
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
|
|
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)
|
|
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter)
|
rs1602398950 |
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg)
|
|
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=)
|
rs202083908 |
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs)
|
|
NM_006306.4(SMC1A):c.3131-13T>G
|
|
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=)
|
rs375312256 |
NM_006306.4(SMC1A):c.3205C>T (p.Arg1069Cys)
|
|
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs)
|
|
NM_006306.4(SMC1A):c.3286-4C>T
|
rs1556885985 |
NM_006306.4(SMC1A):c.3438-7C>T
|
rs782796392 |
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)
|
|
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.3534G>C (p.Ser1178=)
|
|
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs)
|
rs863225459 |
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
|
|
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln)
|
|
NM_006306.4(SMC1A):c.392G>A (p.Arg131His)
|
|
NM_006306.4(SMC1A):c.392del (p.Arg131fs)
|
|
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val)
|
|
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys)
|
|
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)
|
|
NM_006306.4(SMC1A):c.579G>A (p.Ala193=)
|
rs199571320 |
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter)
|
rs1602413582 |
NM_006306.4(SMC1A):c.615+2T>C
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rs868985177 |
NM_006306.4(SMC1A):c.764G>A (p.Arg255His)
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NM_006306.4(SMC1A):c.854+6_854+7del
|
|
SMC1A, 15-BP DEL, NT173
|
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SMC1A, 8.152-KB DEL
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