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1.

rs1491521488 has merged into rs67693134 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
    Chromosome:
    2:202986879 (GRCh38)
    2:203851602 (GRCh37)
    Canonical SPDI:
    NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:202986868:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA
    Gene:
    CARF (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATATATATA=0./0 (ALFA)
    HGVS:
    NC_000002.12:g.202986869TA[5], NC_000002.12:g.202986869TA[6], NC_000002.12:g.202986869TA[7], NC_000002.12:g.202986869TA[8], NC_000002.12:g.202986869TA[9], NC_000002.12:g.202986869TA[10], NC_000002.12:g.202986869TA[11], NC_000002.12:g.202986869TA[12], NC_000002.12:g.202986869TA[13], NC_000002.12:g.202986869TA[14], NC_000002.12:g.202986869TA[15], NC_000002.12:g.202986869TA[16], NC_000002.12:g.202986869TA[17], NC_000002.12:g.202986869TA[18], NC_000002.12:g.202986869TA[19], NC_000002.12:g.202986869TA[21], NC_000002.12:g.202986869TA[22], NC_000002.12:g.202986869TA[23], NC_000002.12:g.202986869TA[24], NC_000002.12:g.202986869TA[25], NC_000002.12:g.202986869TA[26], NC_000002.12:g.202986869TA[27], NC_000002.11:g.203851592TA[5], NC_000002.11:g.203851592TA[6], NC_000002.11:g.203851592TA[7], NC_000002.11:g.203851592TA[8], NC_000002.11:g.203851592TA[9], NC_000002.11:g.203851592TA[10], NC_000002.11:g.203851592TA[11], NC_000002.11:g.203851592TA[12], NC_000002.11:g.203851592TA[13], NC_000002.11:g.203851592TA[14], NC_000002.11:g.203851592TA[15], NC_000002.11:g.203851592TA[16], NC_000002.11:g.203851592TA[17], NC_000002.11:g.203851592TA[18], NC_000002.11:g.203851592TA[19], NC_000002.11:g.203851592TA[21], NC_000002.11:g.203851592TA[22], NC_000002.11:g.203851592TA[23], NC_000002.11:g.203851592TA[24], NC_000002.11:g.203851592TA[25], NC_000002.11:g.203851592TA[26], NC_000002.11:g.203851592TA[27], NM_024744.17:c.*3245TA[5], NM_024744.17:c.*3245TA[6], NM_024744.17:c.*3245TA[7], NM_024744.17:c.*3245TA[8], NM_024744.17:c.*3245TA[9], NM_024744.17:c.*3245TA[10], NM_024744.17:c.*3245TA[11], NM_024744.17:c.*3245TA[12], NM_024744.17:c.*3245TA[13], NM_024744.17:c.*3245TA[14], NM_024744.17:c.*3245TA[15], NM_024744.17:c.*3245TA[16], NM_024744.17:c.*3245TA[17], NM_024744.17:c.*3245TA[18], NM_024744.17:c.*3245TA[19], NM_024744.17:c.*3245TA[21], NM_024744.17:c.*3245TA[22], NM_024744.17:c.*3245TA[23], NM_024744.17:c.*3245TA[24], NM_024744.17:c.*3245TA[25], NM_024744.17:c.*3245TA[26], NM_024744.17:c.*3245TA[27], NM_024744.16:c.*3245TA[5], NM_024744.16:c.*3245TA[6], NM_024744.16:c.*3245TA[7], NM_024744.16:c.*3245TA[8], NM_024744.16:c.*3245TA[9], NM_024744.16:c.*3245TA[10], NM_024744.16:c.*3245TA[11], NM_024744.16:c.*3245TA[12], NM_024744.16:c.*3245TA[13], NM_024744.16:c.*3245TA[14], NM_024744.16:c.*3245TA[15], NM_024744.16:c.*3245TA[16], NM_024744.16:c.*3245TA[17], NM_024744.16:c.*3245TA[18], NM_024744.16:c.*3245TA[19], NM_024744.16:c.*3245TA[21], NM_024744.16:c.*3245TA[22], NM_024744.16:c.*3245TA[23], NM_024744.16:c.*3245TA[24], NM_024744.16:c.*3245TA[25], NM_024744.16:c.*3245TA[26], NM_024744.16:c.*3245TA[27], NM_001104586.4:c.*3245TA[5], NM_001104586.4:c.*3245TA[6], NM_001104586.4:c.*3245TA[7], NM_001104586.4:c.*3245TA[8], NM_001104586.4:c.*3245TA[9], NM_001104586.4:c.*3245TA[10], NM_001104586.4:c.*3245TA[11], NM_001104586.4:c.*3245TA[12], NM_001104586.4:c.*3245TA[13], NM_001104586.4:c.*3245TA[14], NM_001104586.4:c.*3245TA[15], NM_001104586.4:c.*3245TA[16], NM_001104586.4:c.*3245TA[17], NM_001104586.4:c.*3245TA[18], NM_001104586.4:c.*3245TA[19], NM_001104586.4:c.*3245TA[21], NM_001104586.4:c.*3245TA[22], NM_001104586.4:c.*3245TA[23], NM_001104586.4:c.*3245TA[24], NM_001104586.4:c.*3245TA[25], NM_001104586.4:c.*3245TA[26], NM_001104586.4:c.*3245TA[27], NM_001104586.3:c.*3245TA[5], NM_001104586.3:c.*3245TA[6], NM_001104586.3:c.*3245TA[7], NM_001104586.3:c.*3245TA[8], NM_001104586.3:c.*3245TA[9], NM_001104586.3:c.*3245TA[10], NM_001104586.3:c.*3245TA[11], NM_001104586.3:c.*3245TA[12], NM_001104586.3:c.*3245TA[13], NM_001104586.3:c.*3245TA[14], NM_001104586.3:c.*3245TA[15], NM_001104586.3:c.*3245TA[16], NM_001104586.3:c.*3245TA[17], NM_001104586.3:c.*3245TA[18], NM_001104586.3:c.*3245TA[19], NM_001104586.3:c.*3245TA[21], NM_001104586.3:c.*3245TA[22], NM_001104586.3:c.*3245TA[23], NM_001104586.3:c.*3245TA[24], NM_001104586.3:c.*3245TA[25], NM_001104586.3:c.*3245TA[26], NM_001104586.3:c.*3245TA[27], NM_001322428.3:c.*3245TA[5], NM_001322428.3:c.*3245TA[6], NM_001322428.3:c.*3245TA[7], NM_001322428.3:c.*3245TA[8], NM_001322428.3:c.*3245TA[9], NM_001322428.3:c.*3245TA[10], NM_001322428.3:c.*3245TA[11], NM_001322428.3:c.*3245TA[12], NM_001322428.3:c.*3245TA[13], NM_001322428.3:c.*3245TA[14], NM_001322428.3:c.*3245TA[15], NM_001322428.3:c.*3245TA[16], NM_001322428.3:c.*3245TA[17], NM_001322428.3:c.*3245TA[18], NM_001322428.3:c.*3245TA[19], NM_001322428.3:c.*3245TA[21], NM_001322428.3:c.*3245TA[22], NM_001322428.3:c.*3245TA[23], NM_001322428.3:c.*3245TA[24], NM_001322428.3:c.*3245TA[25], NM_001322428.3:c.*3245TA[26], NM_001322428.3:c.*3245TA[27], NM_001322428.2:c.*3245TA[5], NM_001322428.2:c.*3245TA[6], NM_001322428.2:c.*3245TA[7], NM_001322428.2:c.*3245TA[8], NM_001322428.2:c.*3245TA[9], NM_001322428.2:c.*3245TA[10], NM_001322428.2:c.*3245TA[11], NM_001322428.2:c.*3245TA[12], NM_001322428.2:c.*3245TA[13], NM_001322428.2:c.*3245TA[14], NM_001322428.2:c.*3245TA[15], NM_001322428.2:c.*3245TA[16], NM_001322428.2:c.*3245TA[17], NM_001322428.2:c.*3245TA[18], NM_001322428.2:c.*3245TA[19], NM_001322428.2:c.*3245TA[21], NM_001322428.2:c.*3245TA[22], NM_001322428.2:c.*3245TA[23], NM_001322428.2:c.*3245TA[24], NM_001322428.2:c.*3245TA[25], NM_001322428.2:c.*3245TA[26], NM_001322428.2:c.*3245TA[27], NM_001322427.3:c.*3245TA[5], NM_001322427.3:c.*3245TA[6], NM_001322427.3:c.*3245TA[7], NM_001322427.3:c.*3245TA[8], NM_001322427.3:c.*3245TA[9], NM_001322427.3:c.*3245TA[10], NM_001322427.3:c.*3245TA[11], NM_001322427.3:c.*3245TA[12], NM_001322427.3:c.*3245TA[13], NM_001322427.3:c.*3245TA[14], NM_001322427.3:c.*3245TA[15], NM_001322427.3:c.*3245TA[16], NM_001322427.3:c.*3245TA[17], NM_001322427.3:c.*3245TA[18], NM_001322427.3:c.*3245TA[19], NM_001322427.3:c.*3245TA[21], NM_001322427.3:c.*3245TA[22], NM_001322427.3:c.*3245TA[23], NM_001322427.3:c.*3245TA[24], NM_001322427.3:c.*3245TA[25], NM_001322427.3:c.*3245TA[26], NM_001322427.3:c.*3245TA[27], NM_001322427.2:c.*3245TA[5], NM_001322427.2:c.*3245TA[6], NM_001322427.2:c.*3245TA[7], NM_001322427.2:c.*3245TA[8], NM_001322427.2:c.*3245TA[9], NM_001322427.2:c.*3245TA[10], NM_001322427.2:c.*3245TA[11], NM_001322427.2:c.*3245TA[12], NM_001322427.2:c.*3245TA[13], NM_001322427.2:c.*3245TA[14], NM_001322427.2:c.*3245TA[15], NM_001322427.2:c.*3245TA[16], NM_001322427.2:c.*3245TA[17], NM_001322427.2:c.*3245TA[18], NM_001322427.2:c.*3245TA[19], NM_001322427.2:c.*3245TA[21], NM_001322427.2:c.*3245TA[22], NM_001322427.2:c.*3245TA[23], NM_001322427.2:c.*3245TA[24], NM_001322427.2:c.*3245TA[25], NM_001322427.2:c.*3245TA[26], NM_001322427.2:c.*3245TA[27], NM_001322427.1:c.*3245TA[5], NM_001322427.1:c.*3245TA[6], NM_001322427.1:c.*3245TA[7], NM_001322427.1:c.*3245TA[8], NM_001322427.1:c.*3245TA[9], NM_001322427.1:c.*3245TA[10], NM_001322427.1:c.*3245TA[11], NM_001322427.1:c.*3245TA[12], NM_001322427.1:c.*3245TA[13], NM_001322427.1:c.*3245TA[14], NM_001322427.1:c.*3245TA[15], NM_001322427.1:c.*3245TA[16], NM_001322427.1:c.*3245TA[17], NM_001322427.1:c.*3245TA[18], NM_001322427.1:c.*3245TA[19], NM_001322427.1:c.*3245TA[21], NM_001322427.1:c.*3245TA[22], NM_001322427.1:c.*3245TA[23], NM_001322427.1:c.*3245TA[24], NM_001322427.1:c.*3245TA[25], NM_001322427.1:c.*3245TA[26], NM_001322427.1:c.*3245TA[27], NR_136330.3:n.5562TA[5], NR_136330.3:n.5562TA[6], NR_136330.3:n.5562TA[7], NR_136330.3:n.5562TA[8], NR_136330.3:n.5562TA[9], NR_136330.3:n.5562TA[10], NR_136330.3:n.5562TA[11], NR_136330.3:n.5562TA[12], NR_136330.3:n.5562TA[13], NR_136330.3:n.5562TA[14], NR_136330.3:n.5562TA[15], NR_136330.3:n.5562TA[16], NR_136330.3:n.5562TA[17], NR_136330.3:n.5562TA[18], NR_136330.3:n.5562TA[19], NR_136330.3:n.5562TA[21], NR_136330.3:n.5562TA[22], NR_136330.3:n.5562TA[23], NR_136330.3:n.5562TA[24], NR_136330.3:n.5562TA[25], NR_136330.3:n.5562TA[26], NR_136330.3:n.5562TA[27], NR_136330.2:n.5619TA[5], NR_136330.2:n.5619TA[6], NR_136330.2:n.5619TA[7], NR_136330.2:n.5619TA[8], NR_136330.2:n.5619TA[9], NR_136330.2:n.5619TA[10], NR_136330.2:n.5619TA[11], NR_136330.2:n.5619TA[12], NR_136330.2:n.5619TA[13], NR_136330.2:n.5619TA[14], NR_136330.2:n.5619TA[15], NR_136330.2:n.5619TA[16], NR_136330.2:n.5619TA[17], NR_136330.2:n.5619TA[18], NR_136330.2:n.5619TA[19], NR_136330.2:n.5619TA[21], NR_136330.2:n.5619TA[22], NR_136330.2:n.5619TA[23], NR_136330.2:n.5619TA[24], NR_136330.2:n.5619TA[25], NR_136330.2:n.5619TA[26], NR_136330.2:n.5619TA[27], NM_001322429.3:c.*3245TA[5], NM_001322429.3:c.*3245TA[6], NM_001322429.3:c.*3245TA[7], NM_001322429.3:c.*3245TA[8], NM_001322429.3:c.*3245TA[9], NM_001322429.3:c.*3245TA[10], NM_001322429.3:c.*3245TA[11], NM_001322429.3:c.*3245TA[12], NM_001322429.3:c.*3245TA[13], NM_001322429.3:c.*3245TA[14], NM_001322429.3:c.*3245TA[15], NM_001322429.3:c.*3245TA[16], NM_001322429.3:c.*3245TA[17], NM_001322429.3:c.*3245TA[18], NM_001322429.3:c.*3245TA[19], NM_001322429.3:c.*3245TA[21], NM_001322429.3:c.*3245TA[22], NM_001322429.3:c.*3245TA[23], NM_001322429.3:c.*3245TA[24], NM_001322429.3:c.*3245TA[25], NM_001322429.3:c.*3245TA[26], NM_001322429.3:c.*3245TA[27], NM_001322429.2:c.*3245TA[5], NM_001322429.2:c.*3245TA[6], NM_001322429.2:c.*3245TA[7], NM_001322429.2:c.*3245TA[8], NM_001322429.2:c.*3245TA[9], NM_001322429.2:c.*3245TA[10], NM_001322429.2:c.*3245TA[11], NM_001322429.2:c.*3245TA[12], NM_001322429.2:c.*3245TA[13], NM_001322429.2:c.*3245TA[14], NM_001322429.2:c.*3245TA[15], NM_001322429.2:c.*3245TA[16], NM_001322429.2:c.*3245TA[17], NM_001322429.2:c.*3245TA[18], NM_001322429.2:c.*3245TA[19], NM_001322429.2:c.*3245TA[21], NM_001322429.2:c.*3245TA[22], NM_001322429.2:c.*3245TA[23], NM_001322429.2:c.*3245TA[24], NM_001322429.2:c.*3245TA[25], NM_001322429.2:c.*3245TA[26], NM_001322429.2:c.*3245TA[27], NM_001282911.3:c.*3245TA[5], NM_001282911.3:c.*3245TA[6], NM_001282911.3:c.*3245TA[7], NM_001282911.3:c.*3245TA[8], NM_001282911.3:c.*3245TA[9], NM_001282911.3:c.*3245TA[10], NM_001282911.3:c.*3245TA[11], NM_001282911.3:c.*3245TA[12], NM_001282911.3:c.*3245TA[13], NM_001282911.3:c.*3245TA[14], NM_001282911.3:c.*3245TA[15], NM_001282911.3:c.*3245TA[16], NM_001282911.3:c.*3245TA[17], NM_001282911.3:c.*3245TA[18], NM_001282911.3:c.*3245TA[19], NM_001282911.3:c.*3245TA[21], NM_001282911.3:c.*3245TA[22], NM_001282911.3:c.*3245TA[23], NM_001282911.3:c.*3245TA[24], NM_001282911.3:c.*3245TA[25], NM_001282911.3:c.*3245TA[26], NM_001282911.3:c.*3245TA[27], NM_001282911.2:c.*3245TA[5], NM_001282911.2:c.*3245TA[6], NM_001282911.2:c.*3245TA[7], NM_001282911.2:c.*3245TA[8], NM_001282911.2:c.*3245TA[9], NM_001282911.2:c.*3245TA[10], NM_001282911.2:c.*3245TA[11], NM_001282911.2:c.*3245TA[12], NM_001282911.2:c.*3245TA[13], NM_001282911.2:c.*3245TA[14], NM_001282911.2:c.*3245TA[15], NM_001282911.2:c.*3245TA[16], NM_001282911.2:c.*3245TA[17], NM_001282911.2:c.*3245TA[18], NM_001282911.2:c.*3245TA[19], NM_001282911.2:c.*3245TA[21], NM_001282911.2:c.*3245TA[22], NM_001282911.2:c.*3245TA[23], 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NM_001282910.2:c.*3245TA[12], NM_001282910.2:c.*3245TA[13], NM_001282910.2:c.*3245TA[14], NM_001282910.2:c.*3245TA[15], NM_001282910.2:c.*3245TA[16], NM_001282910.2:c.*3245TA[17], NM_001282910.2:c.*3245TA[18], NM_001282910.2:c.*3245TA[19], NM_001282910.2:c.*3245TA[21], NM_001282910.2:c.*3245TA[22], NM_001282910.2:c.*3245TA[23], NM_001282910.2:c.*3245TA[24], NM_001282910.2:c.*3245TA[25], NM_001282910.2:c.*3245TA[26], NM_001282910.2:c.*3245TA[27], NM_001282912.3:c.*3245TA[5], NM_001282912.3:c.*3245TA[6], NM_001282912.3:c.*3245TA[7], NM_001282912.3:c.*3245TA[8], NM_001282912.3:c.*3245TA[9], NM_001282912.3:c.*3245TA[10], NM_001282912.3:c.*3245TA[11], NM_001282912.3:c.*3245TA[12], NM_001282912.3:c.*3245TA[13], NM_001282912.3:c.*3245TA[14], NM_001282912.3:c.*3245TA[15], NM_001282912.3:c.*3245TA[16], NM_001282912.3:c.*3245TA[17], NM_001282912.3:c.*3245TA[18], NM_001282912.3:c.*3245TA[19], NM_001282912.3:c.*3245TA[21], NM_001282912.3:c.*3245TA[22], NM_001282912.3:c.*3245TA[23], 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NR_136331.3:n.5123TA[13], NR_136331.3:n.5123TA[14], NR_136331.3:n.5123TA[15], NR_136331.3:n.5123TA[16], NR_136331.3:n.5123TA[17], NR_136331.3:n.5123TA[18], NR_136331.3:n.5123TA[19], NR_136331.3:n.5123TA[21], NR_136331.3:n.5123TA[22], NR_136331.3:n.5123TA[23], NR_136331.3:n.5123TA[24], NR_136331.3:n.5123TA[25], NR_136331.3:n.5123TA[26], NR_136331.3:n.5123TA[27], NR_136331.2:n.5180TA[5], NR_136331.2:n.5180TA[6], NR_136331.2:n.5180TA[7], NR_136331.2:n.5180TA[8], NR_136331.2:n.5180TA[9], NR_136331.2:n.5180TA[10], NR_136331.2:n.5180TA[11], NR_136331.2:n.5180TA[12], NR_136331.2:n.5180TA[13], NR_136331.2:n.5180TA[14], NR_136331.2:n.5180TA[15], NR_136331.2:n.5180TA[16], NR_136331.2:n.5180TA[17], NR_136331.2:n.5180TA[18], NR_136331.2:n.5180TA[19], NR_136331.2:n.5180TA[21], NR_136331.2:n.5180TA[22], NR_136331.2:n.5180TA[23], NR_136331.2:n.5180TA[24], NR_136331.2:n.5180TA[25], NR_136331.2:n.5180TA[26], NR_136331.2:n.5180TA[27], NR_148033.2:n.5520TA[5], NR_148033.2:n.5520TA[6], NR_148033.2:n.5520TA[7], NR_148033.2:n.5520TA[8], NR_148033.2:n.5520TA[9], NR_148033.2:n.5520TA[10], NR_148033.2:n.5520TA[11], NR_148033.2:n.5520TA[12], NR_148033.2:n.5520TA[13], NR_148033.2:n.5520TA[14], NR_148033.2:n.5520TA[15], NR_148033.2:n.5520TA[16], NR_148033.2:n.5520TA[17], NR_148033.2:n.5520TA[18], NR_148033.2:n.5520TA[19], NR_148033.2:n.5520TA[21], NR_148033.2:n.5520TA[22], NR_148033.2:n.5520TA[23], NR_148033.2:n.5520TA[24], NR_148033.2:n.5520TA[25], NR_148033.2:n.5520TA[26], NR_148033.2:n.5520TA[27], NR_148033.1:n.5577TA[5], NR_148033.1:n.5577TA[6], NR_148033.1:n.5577TA[7], NR_148033.1:n.5577TA[8], NR_148033.1:n.5577TA[9], NR_148033.1:n.5577TA[10], NR_148033.1:n.5577TA[11], NR_148033.1:n.5577TA[12], NR_148033.1:n.5577TA[13], NR_148033.1:n.5577TA[14], NR_148033.1:n.5577TA[15], NR_148033.1:n.5577TA[16], NR_148033.1:n.5577TA[17], NR_148033.1:n.5577TA[18], NR_148033.1:n.5577TA[19], NR_148033.1:n.5577TA[21], NR_148033.1:n.5577TA[22], NR_148033.1:n.5577TA[23], NR_148033.1:n.5577TA[24], NR_148033.1:n.5577TA[25], NR_148033.1:n.5577TA[26], NR_148033.1:n.5577TA[27], NM_001352676.2:c.*3245TA[5], NM_001352676.2:c.*3245TA[6], NM_001352676.2:c.*3245TA[7], NM_001352676.2:c.*3245TA[8], NM_001352676.2:c.*3245TA[9], NM_001352676.2:c.*3245TA[10], NM_001352676.2:c.*3245TA[11], NM_001352676.2:c.*3245TA[12], NM_001352676.2:c.*3245TA[13], NM_001352676.2:c.*3245TA[14], NM_001352676.2:c.*3245TA[15], NM_001352676.2:c.*3245TA[16], NM_001352676.2:c.*3245TA[17], NM_001352676.2:c.*3245TA[18], NM_001352676.2:c.*3245TA[19], NM_001352676.2:c.*3245TA[21], NM_001352676.2:c.*3245TA[22], NM_001352676.2:c.*3245TA[23], NM_001352676.2:c.*3245TA[24], NM_001352676.2:c.*3245TA[25], NM_001352676.2:c.*3245TA[26], NM_001352676.2:c.*3245TA[27], NM_001352676.1:c.*3245TA[5], NM_001352676.1:c.*3245TA[6], NM_001352676.1:c.*3245TA[7], NM_001352676.1:c.*3245TA[8], NM_001352676.1:c.*3245TA[9], NM_001352676.1:c.*3245TA[10], NM_001352676.1:c.*3245TA[11], NM_001352676.1:c.*3245TA[12], NM_001352676.1:c.*3245TA[13], NM_001352676.1:c.*3245TA[14], NM_001352676.1:c.*3245TA[15], NM_001352676.1:c.*3245TA[16], NM_001352676.1:c.*3245TA[17], NM_001352676.1:c.*3245TA[18], NM_001352676.1:c.*3245TA[19], NM_001352676.1:c.*3245TA[21], NM_001352676.1:c.*3245TA[22], NM_001352676.1:c.*3245TA[23], NM_001352676.1:c.*3245TA[24], NM_001352676.1:c.*3245TA[25], NM_001352676.1:c.*3245TA[26], NM_001352676.1:c.*3245TA[27], NM_001352678.2:c.*3245TA[5], NM_001352678.2:c.*3245TA[6], NM_001352678.2:c.*3245TA[7], NM_001352678.2:c.*3245TA[8], NM_001352678.2:c.*3245TA[9], NM_001352678.2:c.*3245TA[10], NM_001352678.2:c.*3245TA[11], NM_001352678.2:c.*3245TA[12], NM_001352678.2:c.*3245TA[13], NM_001352678.2:c.*3245TA[14], NM_001352678.2:c.*3245TA[15], NM_001352678.2:c.*3245TA[16], NM_001352678.2:c.*3245TA[17], NM_001352678.2:c.*3245TA[18], NM_001352678.2:c.*3245TA[19], NM_001352678.2:c.*3245TA[21], NM_001352678.2:c.*3245TA[22], NM_001352678.2:c.*3245TA[23], NM_001352678.2:c.*3245TA[24], NM_001352678.2:c.*3245TA[25], NM_001352678.2:c.*3245TA[26], NM_001352678.2:c.*3245TA[27], NM_001352678.1:c.*3245TA[5], NM_001352678.1:c.*3245TA[6], NM_001352678.1:c.*3245TA[7], NM_001352678.1:c.*3245TA[8], NM_001352678.1:c.*3245TA[9], NM_001352678.1:c.*3245TA[10], NM_001352678.1:c.*3245TA[11], NM_001352678.1:c.*3245TA[12], NM_001352678.1:c.*3245TA[13], NM_001352678.1:c.*3245TA[14], NM_001352678.1:c.*3245TA[15], NM_001352678.1:c.*3245TA[16], NM_001352678.1:c.*3245TA[17], NM_001352678.1:c.*3245TA[18], NM_001352678.1:c.*3245TA[19], NM_001352678.1:c.*3245TA[21], NM_001352678.1:c.*3245TA[22], NM_001352678.1:c.*3245TA[23], NM_001352678.1:c.*3245TA[24], NM_001352678.1:c.*3245TA[25], NM_001352678.1:c.*3245TA[26], NM_001352678.1:c.*3245TA[27], NM_001352679.2:c.*3245TA[5], NM_001352679.2:c.*3245TA[6], NM_001352679.2:c.*3245TA[7], NM_001352679.2:c.*3245TA[8], NM_001352679.2:c.*3245TA[9], NM_001352679.2:c.*3245TA[10], NM_001352679.2:c.*3245TA[11], NM_001352679.2:c.*3245TA[12], NM_001352679.2:c.*3245TA[13], NM_001352679.2:c.*3245TA[14], NM_001352679.2:c.*3245TA[15], NM_001352679.2:c.*3245TA[16], NM_001352679.2:c.*3245TA[17], NM_001352679.2:c.*3245TA[18], NM_001352679.2:c.*3245TA[19], NM_001352679.2:c.*3245TA[21], NM_001352679.2:c.*3245TA[22], NM_001352679.2:c.*3245TA[23], NM_001352679.2:c.*3245TA[24], NM_001352679.2:c.*3245TA[25], NM_001352679.2:c.*3245TA[26], NM_001352679.2:c.*3245TA[27], NM_001352679.1:c.*3245TA[5], NM_001352679.1:c.*3245TA[6], NM_001352679.1:c.*3245TA[7], NM_001352679.1:c.*3245TA[8], NM_001352679.1:c.*3245TA[9], NM_001352679.1:c.*3245TA[10], NM_001352679.1:c.*3245TA[11], NM_001352679.1:c.*3245TA[12], NM_001352679.1:c.*3245TA[13], NM_001352679.1:c.*3245TA[14], NM_001352679.1:c.*3245TA[15], NM_001352679.1:c.*3245TA[16], NM_001352679.1:c.*3245TA[17], NM_001352679.1:c.*3245TA[18], NM_001352679.1:c.*3245TA[19], NM_001352679.1:c.*3245TA[21], NM_001352679.1:c.*3245TA[22], NM_001352679.1:c.*3245TA[23], NM_001352679.1:c.*3245TA[24], NM_001352679.1:c.*3245TA[25], NM_001352679.1:c.*3245TA[26], NM_001352679.1:c.*3245TA[27], NR_148034.2:n.5148TA[5], NR_148034.2:n.5148TA[6], NR_148034.2:n.5148TA[7], NR_148034.2:n.5148TA[8], NR_148034.2:n.5148TA[9], NR_148034.2:n.5148TA[10], NR_148034.2:n.5148TA[11], NR_148034.2:n.5148TA[12], NR_148034.2:n.5148TA[13], NR_148034.2:n.5148TA[14], NR_148034.2:n.5148TA[15], NR_148034.2:n.5148TA[16], NR_148034.2:n.5148TA[17], NR_148034.2:n.5148TA[18], NR_148034.2:n.5148TA[19], NR_148034.2:n.5148TA[21], NR_148034.2:n.5148TA[22], NR_148034.2:n.5148TA[23], NR_148034.2:n.5148TA[24], NR_148034.2:n.5148TA[25], NR_148034.2:n.5148TA[26], NR_148034.2:n.5148TA[27], NR_148034.1:n.5205TA[5], NR_148034.1:n.5205TA[6], NR_148034.1:n.5205TA[7], NR_148034.1:n.5205TA[8], NR_148034.1:n.5205TA[9], NR_148034.1:n.5205TA[10], NR_148034.1:n.5205TA[11], NR_148034.1:n.5205TA[12], NR_148034.1:n.5205TA[13], NR_148034.1:n.5205TA[14], NR_148034.1:n.5205TA[15], NR_148034.1:n.5205TA[16], NR_148034.1:n.5205TA[17], NR_148034.1:n.5205TA[18], NR_148034.1:n.5205TA[19], NR_148034.1:n.5205TA[21], NR_148034.1:n.5205TA[22], NR_148034.1:n.5205TA[23], NR_148034.1:n.5205TA[24], NR_148034.1:n.5205TA[25], NR_148034.1:n.5205TA[26], NR_148034.1:n.5205TA[27], NM_001352677.2:c.*3331TA[5], NM_001352677.2:c.*3331TA[6], NM_001352677.2:c.*3331TA[7], NM_001352677.2:c.*3331TA[8], NM_001352677.2:c.*3331TA[9], NM_001352677.2:c.*3331TA[10], NM_001352677.2:c.*3331TA[11], NM_001352677.2:c.*3331TA[12], NM_001352677.2:c.*3331TA[13], NM_001352677.2:c.*3331TA[14], NM_001352677.2:c.*3331TA[15], NM_001352677.2:c.*3331TA[16], NM_001352677.2:c.*3331TA[17], NM_001352677.2:c.*3331TA[18], NM_001352677.2:c.*3331TA[19], NM_001352677.2:c.*3331TA[21], NM_001352677.2:c.*3331TA[22], NM_001352677.2:c.*3331TA[23], NM_001352677.2:c.*3331TA[24], NM_001352677.2:c.*3331TA[25], NM_001352677.2:c.*3331TA[26], NM_001352677.2:c.*3331TA[27], NM_001352677.1:c.*3331TA[5], NM_001352677.1:c.*3331TA[6], NM_001352677.1:c.*3331TA[7], NM_001352677.1:c.*3331TA[8], NM_001352677.1:c.*3331TA[9], NM_001352677.1:c.*3331TA[10], NM_001352677.1:c.*3331TA[11], NM_001352677.1:c.*3331TA[12], NM_001352677.1:c.*3331TA[13], NM_001352677.1:c.*3331TA[14], NM_001352677.1:c.*3331TA[15], NM_001352677.1:c.*3331TA[16], NM_001352677.1:c.*3331TA[17], NM_001352677.1:c.*3331TA[18], NM_001352677.1:c.*3331TA[19], NM_001352677.1:c.*3331TA[21], NM_001352677.1:c.*3331TA[22], NM_001352677.1:c.*3331TA[23], NM_001352677.1:c.*3331TA[24], NM_001352677.1:c.*3331TA[25], NM_001352677.1:c.*3331TA[26], NM_001352677.1:c.*3331TA[27]

    2.

    rs1491491672 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->GCACAC
      Chromosome:
      no mapping
      Canonical SPDI:

      3.

      rs1491378270 has merged into rs754214990 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CACACACACACACACACACACACACA>-,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
        Chromosome:
        2:202943605 (GRCh38)
        2:203808328 (GRCh37)
        Canonical SPDI:
        NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:202943587:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
        Gene:
        CARF (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACACACACACACACACACACA=0./0 (ALFA)
        HGVS:
        NC_000002.12:g.202943589CA[8], NC_000002.12:g.202943589CA[10], NC_000002.12:g.202943589CA[12], NC_000002.12:g.202943589CA[13], NC_000002.12:g.202943589CA[14], NC_000002.12:g.202943589CA[15], NC_000002.12:g.202943589CA[16], NC_000002.12:g.202943589CA[17], NC_000002.12:g.202943589CA[18], NC_000002.12:g.202943589CA[19], NC_000002.12:g.202943589CA[20], NC_000002.12:g.202943589CA[22], NC_000002.12:g.202943589CA[23], NC_000002.12:g.202943589CA[24], NC_000002.12:g.202943589CA[25], NC_000002.12:g.202943589CA[26], NC_000002.12:g.202943589CA[27], NC_000002.12:g.202943589CA[28], NC_000002.12:g.202943589CA[29], NC_000002.12:g.202943589CA[30], NC_000002.12:g.202943589CA[31], NC_000002.12:g.202943589CA[32], NC_000002.12:g.202943589CA[33], NC_000002.12:g.202943589CA[34], NC_000002.12:g.202943589CA[35], NC_000002.12:g.202943589CA[37], NC_000002.11:g.203808312CA[8], NC_000002.11:g.203808312CA[10], NC_000002.11:g.203808312CA[12], NC_000002.11:g.203808312CA[13], NC_000002.11:g.203808312CA[14], NC_000002.11:g.203808312CA[15], NC_000002.11:g.203808312CA[16], NC_000002.11:g.203808312CA[17], NC_000002.11:g.203808312CA[18], NC_000002.11:g.203808312CA[19], NC_000002.11:g.203808312CA[20], NC_000002.11:g.203808312CA[22], NC_000002.11:g.203808312CA[23], NC_000002.11:g.203808312CA[24], NC_000002.11:g.203808312CA[25], NC_000002.11:g.203808312CA[26], NC_000002.11:g.203808312CA[27], NC_000002.11:g.203808312CA[28], NC_000002.11:g.203808312CA[29], NC_000002.11:g.203808312CA[30], NC_000002.11:g.203808312CA[31], NC_000002.11:g.203808312CA[32], NC_000002.11:g.203808312CA[33], NC_000002.11:g.203808312CA[34], NC_000002.11:g.203808312CA[35], NC_000002.11:g.203808312CA[37]

        4.

        rs1491343479 has merged into rs138662921 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>-,T,TTT [Show Flanks]
          Chromosome:
          2:202938668 (GRCh38)
          2:203803391 (GRCh37)
          Canonical SPDI:
          NC_000002.12:202938659:TTTTTTTTTT:TTTTTTTT,NC_000002.12:202938659:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:202938659:TTTTTTTTTT:TTTTTTTTTTT
          Gene:
          CARF (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0./0 (ALFA)
          T=0.3293/1269 (ALSPAC)
          T=0.3341/1239 (TWINSUK)
          T=0.3657/365 (GoNL)
          T=0.375/15 (GENOME_DK)
          T=0.453/270 (NorthernSweden)
          -=0.4659/2333 (1000Genomes)
          HGVS:

          5.

          rs1491268077 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GTTTTTTTT [Show Flanks]
            Chromosome:
            2:202938660 (GRCh38)
            2:203803384 (GRCh37)
            Canonical SPDI:
            NC_000002.12:202938660:TTTTTTTT:TTTTTTTTGTTTTTTTT
            Gene:
            CARF (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            TTTTTTTTGTTTTTTTT=0./0 (ALFA)
            TTTTTTTTG=0.00006/2 (GnomAD)
            HGVS:

            6.

            rs1491243659 has merged into rs1461086429 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CT>-,CTCT [Show Flanks]
              Chromosome:
              2:202976211 (GRCh38)
              2:203840934 (GRCh37)
              Canonical SPDI:
              NC_000002.12:202976199:TCTCTCTCTCTCT:TCTCTCTCTCT,NC_000002.12:202976199:TCTCTCTCTCTCT:TCTCTCTCTCTCTCT
              Gene:
              CARF (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TCTCTCTCTCT=0.00005/1 (ALFA)
              -=0.00022/1 (Estonian)
              -=0.00218/4 (Korea1K)
              HGVS:

              7.

              rs1491238237 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CATATATATATATATATA [Show Flanks]
                Chromosome:
                2:202986869 (GRCh38)
                2:203851593 (GRCh37)
                Canonical SPDI:
                NC_000002.12:202986869:ATATATATATATATATA:ATATATATATATATATACATATATATATATATATA
                Gene:
                CARF (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                ATATATATATATATATACATATATATATATATATA=0./0 (ALFA)
                ATATATATATATATATAC=0.00267/40 (GnomAD)
                HGVS:
                NC_000002.12:g.202986870_202986886AT[8]ACATATATATATATATATA[1], NC_000002.11:g.203851593_203851609AT[8]ACATATATATATATATATA[1], NM_024744.17:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_024744.16:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001104586.4:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001104586.3:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001322428.3:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001322428.2:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001322427.3:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001322427.2:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001322427.1:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NR_136330.3:n.5563_5579AT[8]ACATATATATATATATATA[1], NR_136330.2:n.5620_5636AT[8]ACATATATATATATATATA[1], NM_001322429.3:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001322429.2:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001282911.3:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001282911.2:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001282910.3:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001282910.2:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001282912.3:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001282912.2:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NR_136331.3:n.5124_5140AT[8]ACATATATATATATATATA[1], NR_136331.2:n.5181_5197AT[8]ACATATATATATATATATA[1], NR_148033.2:n.5521_5537AT[8]ACATATATATATATATATA[1], NR_148033.1:n.5578_5594AT[8]ACATATATATATATATATA[1], NM_001352676.2:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001352676.1:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001352678.2:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001352678.1:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001352679.2:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NM_001352679.1:c.*3246_*3262AT[8]ACATATATATATATATATA[1], NR_148034.2:n.5149_5165AT[8]ACATATATATATATATATA[1], NR_148034.1:n.5206_5222AT[8]ACATATATATATATATATA[1], NM_001352677.2:c.*3332_*3348AT[8]ACATATATATATATATATA[1], NM_001352677.1:c.*3332_*3348AT[8]ACATATATATATATATATA[1]

                8.

                rs1491191771 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->GTACC [Show Flanks]
                  Chromosome:
                  2:202948209 (GRCh38)
                  2:203812933 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:202948209::GTACC
                  Gene:
                  CARF (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency
                  MAF:
                  GTACC=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1491167595 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->AC [Show Flanks]
                    Chromosome:
                    2:202976200 (GRCh38)
                    2:203840924 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:202976200:C:CAC
                    Gene:
                    CARF (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CAC=0./0 (ALFA)
                    CA=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1491130803 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      GT>- [Show Flanks]
                      Chromosome:
                      2:202986868 (GRCh38)
                      2:203851591 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:202986867:GT:
                      Gene:
                      CARF (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0.00299/33 (ALFA)
                      -=0.05114/27 (NorthernSweden)
                      -=0.07245/3740 (GnomAD)
                      -=0.10746/1727 (TOMMO)
                      HGVS:
                      NC_000002.12:g.202986868_202986869del, NC_000002.11:g.203851591_203851592del, NM_024744.17:c.*3244_*3245del, NM_024744.16:c.*3244_*3245del, NM_001104586.4:c.*3244_*3245del, NM_001104586.3:c.*3244_*3245del, NM_001322428.3:c.*3244_*3245del, NM_001322428.2:c.*3244_*3245del, NM_001322427.3:c.*3244_*3245del, NM_001322427.2:c.*3244_*3245del, NM_001322427.1:c.*3244_*3245del, NR_136330.3:n.5561_5562del, NR_136330.2:n.5618_5619del, NM_001322429.3:c.*3244_*3245del, NM_001322429.2:c.*3244_*3245del, NM_001282911.3:c.*3244_*3245del, NM_001282911.2:c.*3244_*3245del, NM_001282910.3:c.*3244_*3245del, NM_001282910.2:c.*3244_*3245del, NM_001282912.3:c.*3244_*3245del, NM_001282912.2:c.*3244_*3245del, NR_136331.3:n.5122_5123del, NR_136331.2:n.5179_5180del, NR_148033.2:n.5519_5520del, NR_148033.1:n.5576_5577del, NM_001352676.2:c.*3244_*3245del, NM_001352676.1:c.*3244_*3245del, NM_001352678.2:c.*3244_*3245del, NM_001352678.1:c.*3244_*3245del, NM_001352679.2:c.*3244_*3245del, NM_001352679.1:c.*3244_*3245del, NR_148034.2:n.5147_5148del, NR_148034.1:n.5204_5205del, NM_001352677.2:c.*3330_*3331del, NM_001352677.1:c.*3330_*3331del

                      11.

                      rs1491098285 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->GTATAT,GTATATAT,GTATATATAT,GTATATATATAT,GTATATATATATAT,GTATATATATATATAT,GTATATATATATATATAT,GTATATATATATATATATAT,GTATATATATATATATATATAT,GTATATATATATATATATATATAT [Show Flanks]
                        Chromosome:
                        2:202986868 (GRCh38)
                        2:203851592 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:202986868:TAT:TATGTATAT,NC_000002.12:202986868:TAT:TATGTATATAT,NC_000002.12:202986868:TAT:TATGTATATATAT,NC_000002.12:202986868:TAT:TATGTATATATATAT,NC_000002.12:202986868:TAT:TATGTATATATATATAT,NC_000002.12:202986868:TAT:TATGTATATATATATATAT,NC_000002.12:202986868:TAT:TATGTATATATATATATATAT,NC_000002.12:202986868:TAT:TATGTATATATATATATATATAT,NC_000002.12:202986868:TAT:TATGTATATATATATATATATATAT,NC_000002.12:202986868:TAT:TATGTATATATATATATATATATATAT
                        Gene:
                        CARF (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TATGTATATAT=0./0 (ALFA)
                        HGVS:
                        NC_000002.12:g.202986871_202986872insGTATAT, NC_000002.12:g.202986871_202986872insGTATATAT, NC_000002.12:g.202986871_202986872insGTATATATAT, NC_000002.12:g.202986871_202986872insGTATATATATAT, NC_000002.12:g.202986871_202986872insGTATATATATATAT, NC_000002.12:g.202986871_202986872insGTATATATATATATAT, NC_000002.12:g.202986871_202986872insGTATATATATATATATAT, NC_000002.12:g.202986871_202986872insGTATATATATATATATATAT, NC_000002.12:g.202986871_202986872insGTATATATATATATATATATAT, NC_000002.12:g.202986871_202986872insGTATATATATATATATATATATAT, NC_000002.11:g.203851594_203851595insGTATAT, NC_000002.11:g.203851594_203851595insGTATATAT, NC_000002.11:g.203851594_203851595insGTATATATAT, NC_000002.11:g.203851594_203851595insGTATATATATAT, NC_000002.11:g.203851594_203851595insGTATATATATATAT, NC_000002.11:g.203851594_203851595insGTATATATATATATAT, NC_000002.11:g.203851594_203851595insGTATATATATATATATAT, NC_000002.11:g.203851594_203851595insGTATATATATATATATATAT, NC_000002.11:g.203851594_203851595insGTATATATATATATATATATAT, NC_000002.11:g.203851594_203851595insGTATATATATATATATATATATAT, NM_024744.17:c.*3247_*3248insGTATAT, NM_024744.17:c.*3247_*3248insGTATATAT, NM_024744.17:c.*3247_*3248insGTATATATAT, NM_024744.17:c.*3247_*3248insGTATATATATAT, NM_024744.17:c.*3247_*3248insGTATATATATATAT, NM_024744.17:c.*3247_*3248insGTATATATATATATAT, NM_024744.17:c.*3247_*3248insGTATATATATATATATAT, NM_024744.17:c.*3247_*3248insGTATATATATATATATATAT, NM_024744.17:c.*3247_*3248insGTATATATATATATATATATAT, NM_024744.17:c.*3247_*3248insGTATATATATATATATATATATAT, NM_024744.16:c.*3247_*3248insGTATAT, NM_024744.16:c.*3247_*3248insGTATATAT, NM_024744.16:c.*3247_*3248insGTATATATAT, NM_024744.16:c.*3247_*3248insGTATATATATAT, NM_024744.16:c.*3247_*3248insGTATATATATATAT, NM_024744.16:c.*3247_*3248insGTATATATATATATAT, NM_024744.16:c.*3247_*3248insGTATATATATATATATAT, NM_024744.16:c.*3247_*3248insGTATATATATATATATATAT, NM_024744.16:c.*3247_*3248insGTATATATATATATATATATAT, NM_024744.16:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001104586.4:c.*3247_*3248insGTATAT, NM_001104586.4:c.*3247_*3248insGTATATAT, NM_001104586.4:c.*3247_*3248insGTATATATAT, NM_001104586.4:c.*3247_*3248insGTATATATATAT, NM_001104586.4:c.*3247_*3248insGTATATATATATAT, NM_001104586.4:c.*3247_*3248insGTATATATATATATAT, NM_001104586.4:c.*3247_*3248insGTATATATATATATATAT, NM_001104586.4:c.*3247_*3248insGTATATATATATATATATAT, NM_001104586.4:c.*3247_*3248insGTATATATATATATATATATAT, NM_001104586.4:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001104586.3:c.*3247_*3248insGTATAT, NM_001104586.3:c.*3247_*3248insGTATATAT, NM_001104586.3:c.*3247_*3248insGTATATATAT, NM_001104586.3:c.*3247_*3248insGTATATATATAT, NM_001104586.3:c.*3247_*3248insGTATATATATATAT, NM_001104586.3:c.*3247_*3248insGTATATATATATATAT, NM_001104586.3:c.*3247_*3248insGTATATATATATATATAT, NM_001104586.3:c.*3247_*3248insGTATATATATATATATATAT, NM_001104586.3:c.*3247_*3248insGTATATATATATATATATATAT, NM_001104586.3:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001322428.3:c.*3247_*3248insGTATAT, NM_001322428.3:c.*3247_*3248insGTATATAT, NM_001322428.3:c.*3247_*3248insGTATATATAT, NM_001322428.3:c.*3247_*3248insGTATATATATAT, NM_001322428.3:c.*3247_*3248insGTATATATATATAT, NM_001322428.3:c.*3247_*3248insGTATATATATATATAT, NM_001322428.3:c.*3247_*3248insGTATATATATATATATAT, NM_001322428.3:c.*3247_*3248insGTATATATATATATATATAT, NM_001322428.3:c.*3247_*3248insGTATATATATATATATATATAT, NM_001322428.3:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001322428.2:c.*3247_*3248insGTATAT, NM_001322428.2:c.*3247_*3248insGTATATAT, NM_001322428.2:c.*3247_*3248insGTATATATAT, NM_001322428.2:c.*3247_*3248insGTATATATATAT, NM_001322428.2:c.*3247_*3248insGTATATATATATAT, NM_001322428.2:c.*3247_*3248insGTATATATATATATAT, NM_001322428.2:c.*3247_*3248insGTATATATATATATATAT, NM_001322428.2:c.*3247_*3248insGTATATATATATATATATAT, NM_001322428.2:c.*3247_*3248insGTATATATATATATATATATAT, NM_001322428.2:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001322427.3:c.*3247_*3248insGTATAT, NM_001322427.3:c.*3247_*3248insGTATATAT, NM_001322427.3:c.*3247_*3248insGTATATATAT, NM_001322427.3:c.*3247_*3248insGTATATATATAT, NM_001322427.3:c.*3247_*3248insGTATATATATATAT, NM_001322427.3:c.*3247_*3248insGTATATATATATATAT, NM_001322427.3:c.*3247_*3248insGTATATATATATATATAT, NM_001322427.3:c.*3247_*3248insGTATATATATATATATATAT, NM_001322427.3:c.*3247_*3248insGTATATATATATATATATATAT, NM_001322427.3:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001322427.2:c.*3247_*3248insGTATAT, NM_001322427.2:c.*3247_*3248insGTATATAT, NM_001322427.2:c.*3247_*3248insGTATATATAT, NM_001322427.2:c.*3247_*3248insGTATATATATAT, NM_001322427.2:c.*3247_*3248insGTATATATATATAT, NM_001322427.2:c.*3247_*3248insGTATATATATATATAT, NM_001322427.2:c.*3247_*3248insGTATATATATATATATAT, NM_001322427.2:c.*3247_*3248insGTATATATATATATATATAT, NM_001322427.2:c.*3247_*3248insGTATATATATATATATATATAT, NM_001322427.2:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001322427.1:c.*3247_*3248insGTATAT, NM_001322427.1:c.*3247_*3248insGTATATAT, NM_001322427.1:c.*3247_*3248insGTATATATAT, NM_001322427.1:c.*3247_*3248insGTATATATATAT, NM_001322427.1:c.*3247_*3248insGTATATATATATAT, NM_001322427.1:c.*3247_*3248insGTATATATATATATAT, NM_001322427.1:c.*3247_*3248insGTATATATATATATATAT, NM_001322427.1:c.*3247_*3248insGTATATATATATATATATAT, NM_001322427.1:c.*3247_*3248insGTATATATATATATATATATAT, NM_001322427.1:c.*3247_*3248insGTATATATATATATATATATATAT, NR_136330.3:n.5564_5565insGTATAT, NR_136330.3:n.5564_5565insGTATATAT, NR_136330.3:n.5564_5565insGTATATATAT, NR_136330.3:n.5564_5565insGTATATATATAT, NR_136330.3:n.5564_5565insGTATATATATATAT, NR_136330.3:n.5564_5565insGTATATATATATATAT, NR_136330.3:n.5564_5565insGTATATATATATATATAT, NR_136330.3:n.5564_5565insGTATATATATATATATATAT, NR_136330.3:n.5564_5565insGTATATATATATATATATATAT, NR_136330.3:n.5564_5565insGTATATATATATATATATATATAT, NR_136330.2:n.5621_5622insGTATAT, NR_136330.2:n.5621_5622insGTATATAT, NR_136330.2:n.5621_5622insGTATATATAT, NR_136330.2:n.5621_5622insGTATATATATAT, NR_136330.2:n.5621_5622insGTATATATATATAT, NR_136330.2:n.5621_5622insGTATATATATATATAT, NR_136330.2:n.5621_5622insGTATATATATATATATAT, NR_136330.2:n.5621_5622insGTATATATATATATATATAT, NR_136330.2:n.5621_5622insGTATATATATATATATATATAT, NR_136330.2:n.5621_5622insGTATATATATATATATATATATAT, NM_001322429.3:c.*3247_*3248insGTATAT, NM_001322429.3:c.*3247_*3248insGTATATAT, NM_001322429.3:c.*3247_*3248insGTATATATAT, NM_001322429.3:c.*3247_*3248insGTATATATATAT, NM_001322429.3:c.*3247_*3248insGTATATATATATAT, NM_001322429.3:c.*3247_*3248insGTATATATATATATAT, NM_001322429.3:c.*3247_*3248insGTATATATATATATATAT, NM_001322429.3:c.*3247_*3248insGTATATATATATATATATAT, NM_001322429.3:c.*3247_*3248insGTATATATATATATATATATAT, NM_001322429.3:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001322429.2:c.*3247_*3248insGTATAT, NM_001322429.2:c.*3247_*3248insGTATATAT, NM_001322429.2:c.*3247_*3248insGTATATATAT, NM_001322429.2:c.*3247_*3248insGTATATATATAT, NM_001322429.2:c.*3247_*3248insGTATATATATATAT, NM_001322429.2:c.*3247_*3248insGTATATATATATATAT, NM_001322429.2:c.*3247_*3248insGTATATATATATATATAT, NM_001322429.2:c.*3247_*3248insGTATATATATATATATATAT, NM_001322429.2:c.*3247_*3248insGTATATATATATATATATATAT, NM_001322429.2:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001282911.3:c.*3247_*3248insGTATAT, NM_001282911.3:c.*3247_*3248insGTATATAT, NM_001282911.3:c.*3247_*3248insGTATATATAT, NM_001282911.3:c.*3247_*3248insGTATATATATAT, NM_001282911.3:c.*3247_*3248insGTATATATATATAT, NM_001282911.3:c.*3247_*3248insGTATATATATATATAT, NM_001282911.3:c.*3247_*3248insGTATATATATATATATAT, NM_001282911.3:c.*3247_*3248insGTATATATATATATATATAT, NM_001282911.3:c.*3247_*3248insGTATATATATATATATATATAT, NM_001282911.3:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001282911.2:c.*3247_*3248insGTATAT, NM_001282911.2:c.*3247_*3248insGTATATAT, NM_001282911.2:c.*3247_*3248insGTATATATAT, NM_001282911.2:c.*3247_*3248insGTATATATATAT, NM_001282911.2:c.*3247_*3248insGTATATATATATAT, NM_001282911.2:c.*3247_*3248insGTATATATATATATAT, NM_001282911.2:c.*3247_*3248insGTATATATATATATATAT, NM_001282911.2:c.*3247_*3248insGTATATATATATATATATAT, NM_001282911.2:c.*3247_*3248insGTATATATATATATATATATAT, NM_001282911.2:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001282910.3:c.*3247_*3248insGTATAT, NM_001282910.3:c.*3247_*3248insGTATATAT, NM_001282910.3:c.*3247_*3248insGTATATATAT, NM_001282910.3:c.*3247_*3248insGTATATATATAT, NM_001282910.3:c.*3247_*3248insGTATATATATATAT, NM_001282910.3:c.*3247_*3248insGTATATATATATATAT, NM_001282910.3:c.*3247_*3248insGTATATATATATATATAT, NM_001282910.3:c.*3247_*3248insGTATATATATATATATATAT, NM_001282910.3:c.*3247_*3248insGTATATATATATATATATATAT, NM_001282910.3:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001282910.2:c.*3247_*3248insGTATAT, NM_001282910.2:c.*3247_*3248insGTATATAT, NM_001282910.2:c.*3247_*3248insGTATATATAT, NM_001282910.2:c.*3247_*3248insGTATATATATAT, NM_001282910.2:c.*3247_*3248insGTATATATATATAT, NM_001282910.2:c.*3247_*3248insGTATATATATATATAT, NM_001282910.2:c.*3247_*3248insGTATATATATATATATAT, NM_001282910.2:c.*3247_*3248insGTATATATATATATATATAT, NM_001282910.2:c.*3247_*3248insGTATATATATATATATATATAT, NM_001282910.2:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001282912.3:c.*3247_*3248insGTATAT, NM_001282912.3:c.*3247_*3248insGTATATAT, NM_001282912.3:c.*3247_*3248insGTATATATAT, NM_001282912.3:c.*3247_*3248insGTATATATATAT, NM_001282912.3:c.*3247_*3248insGTATATATATATAT, NM_001282912.3:c.*3247_*3248insGTATATATATATATAT, NM_001282912.3:c.*3247_*3248insGTATATATATATATATAT, NM_001282912.3:c.*3247_*3248insGTATATATATATATATATAT, NM_001282912.3:c.*3247_*3248insGTATATATATATATATATATAT, NM_001282912.3:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001282912.2:c.*3247_*3248insGTATAT, NM_001282912.2:c.*3247_*3248insGTATATAT, NM_001282912.2:c.*3247_*3248insGTATATATAT, NM_001282912.2:c.*3247_*3248insGTATATATATAT, NM_001282912.2:c.*3247_*3248insGTATATATATATAT, NM_001282912.2:c.*3247_*3248insGTATATATATATATAT, NM_001282912.2:c.*3247_*3248insGTATATATATATATATAT, NM_001282912.2:c.*3247_*3248insGTATATATATATATATATAT, NM_001282912.2:c.*3247_*3248insGTATATATATATATATATATAT, NM_001282912.2:c.*3247_*3248insGTATATATATATATATATATATAT, NR_136331.3:n.5125_5126insGTATAT, NR_136331.3:n.5125_5126insGTATATAT, NR_136331.3:n.5125_5126insGTATATATAT, NR_136331.3:n.5125_5126insGTATATATATAT, NR_136331.3:n.5125_5126insGTATATATATATAT, NR_136331.3:n.5125_5126insGTATATATATATATAT, NR_136331.3:n.5125_5126insGTATATATATATATATAT, NR_136331.3:n.5125_5126insGTATATATATATATATATAT, NR_136331.3:n.5125_5126insGTATATATATATATATATATAT, NR_136331.3:n.5125_5126insGTATATATATATATATATATATAT, NR_136331.2:n.5182_5183insGTATAT, NR_136331.2:n.5182_5183insGTATATAT, NR_136331.2:n.5182_5183insGTATATATAT, NR_136331.2:n.5182_5183insGTATATATATAT, NR_136331.2:n.5182_5183insGTATATATATATAT, NR_136331.2:n.5182_5183insGTATATATATATATAT, NR_136331.2:n.5182_5183insGTATATATATATATATAT, NR_136331.2:n.5182_5183insGTATATATATATATATATAT, NR_136331.2:n.5182_5183insGTATATATATATATATATATAT, NR_136331.2:n.5182_5183insGTATATATATATATATATATATAT, NR_148033.2:n.5522_5523insGTATAT, NR_148033.2:n.5522_5523insGTATATAT, NR_148033.2:n.5522_5523insGTATATATAT, NR_148033.2:n.5522_5523insGTATATATATAT, NR_148033.2:n.5522_5523insGTATATATATATAT, NR_148033.2:n.5522_5523insGTATATATATATATAT, NR_148033.2:n.5522_5523insGTATATATATATATATAT, NR_148033.2:n.5522_5523insGTATATATATATATATATAT, NR_148033.2:n.5522_5523insGTATATATATATATATATATAT, NR_148033.2:n.5522_5523insGTATATATATATATATATATATAT, NR_148033.1:n.5579_5580insGTATAT, NR_148033.1:n.5579_5580insGTATATAT, NR_148033.1:n.5579_5580insGTATATATAT, NR_148033.1:n.5579_5580insGTATATATATAT, NR_148033.1:n.5579_5580insGTATATATATATAT, NR_148033.1:n.5579_5580insGTATATATATATATAT, NR_148033.1:n.5579_5580insGTATATATATATATATAT, NR_148033.1:n.5579_5580insGTATATATATATATATATAT, NR_148033.1:n.5579_5580insGTATATATATATATATATATAT, NR_148033.1:n.5579_5580insGTATATATATATATATATATATAT, NM_001352676.2:c.*3247_*3248insGTATAT, NM_001352676.2:c.*3247_*3248insGTATATAT, NM_001352676.2:c.*3247_*3248insGTATATATAT, NM_001352676.2:c.*3247_*3248insGTATATATATAT, NM_001352676.2:c.*3247_*3248insGTATATATATATAT, NM_001352676.2:c.*3247_*3248insGTATATATATATATAT, NM_001352676.2:c.*3247_*3248insGTATATATATATATATAT, NM_001352676.2:c.*3247_*3248insGTATATATATATATATATAT, NM_001352676.2:c.*3247_*3248insGTATATATATATATATATATAT, NM_001352676.2:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001352676.1:c.*3247_*3248insGTATAT, NM_001352676.1:c.*3247_*3248insGTATATAT, NM_001352676.1:c.*3247_*3248insGTATATATAT, NM_001352676.1:c.*3247_*3248insGTATATATATAT, NM_001352676.1:c.*3247_*3248insGTATATATATATAT, NM_001352676.1:c.*3247_*3248insGTATATATATATATAT, NM_001352676.1:c.*3247_*3248insGTATATATATATATATAT, NM_001352676.1:c.*3247_*3248insGTATATATATATATATATAT, NM_001352676.1:c.*3247_*3248insGTATATATATATATATATATAT, NM_001352676.1:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001352678.2:c.*3247_*3248insGTATAT, NM_001352678.2:c.*3247_*3248insGTATATAT, NM_001352678.2:c.*3247_*3248insGTATATATAT, NM_001352678.2:c.*3247_*3248insGTATATATATAT, NM_001352678.2:c.*3247_*3248insGTATATATATATAT, NM_001352678.2:c.*3247_*3248insGTATATATATATATAT, NM_001352678.2:c.*3247_*3248insGTATATATATATATATAT, NM_001352678.2:c.*3247_*3248insGTATATATATATATATATAT, NM_001352678.2:c.*3247_*3248insGTATATATATATATATATATAT, NM_001352678.2:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001352678.1:c.*3247_*3248insGTATAT, NM_001352678.1:c.*3247_*3248insGTATATAT, NM_001352678.1:c.*3247_*3248insGTATATATAT, NM_001352678.1:c.*3247_*3248insGTATATATATAT, NM_001352678.1:c.*3247_*3248insGTATATATATATAT, NM_001352678.1:c.*3247_*3248insGTATATATATATATAT, NM_001352678.1:c.*3247_*3248insGTATATATATATATATAT, NM_001352678.1:c.*3247_*3248insGTATATATATATATATATAT, NM_001352678.1:c.*3247_*3248insGTATATATATATATATATATAT, NM_001352678.1:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001352679.2:c.*3247_*3248insGTATAT, NM_001352679.2:c.*3247_*3248insGTATATAT, NM_001352679.2:c.*3247_*3248insGTATATATAT, NM_001352679.2:c.*3247_*3248insGTATATATATAT, NM_001352679.2:c.*3247_*3248insGTATATATATATAT, NM_001352679.2:c.*3247_*3248insGTATATATATATATAT, NM_001352679.2:c.*3247_*3248insGTATATATATATATATAT, NM_001352679.2:c.*3247_*3248insGTATATATATATATATATAT, NM_001352679.2:c.*3247_*3248insGTATATATATATATATATATAT, NM_001352679.2:c.*3247_*3248insGTATATATATATATATATATATAT, NM_001352679.1:c.*3247_*3248insGTATAT, NM_001352679.1:c.*3247_*3248insGTATATAT, NM_001352679.1:c.*3247_*3248insGTATATATAT, NM_001352679.1:c.*3247_*3248insGTATATATATAT, NM_001352679.1:c.*3247_*3248insGTATATATATATAT, NM_001352679.1:c.*3247_*3248insGTATATATATATATAT, NM_001352679.1:c.*3247_*3248insGTATATATATATATATAT, NM_001352679.1:c.*3247_*3248insGTATATATATATATATATAT, NM_001352679.1:c.*3247_*3248insGTATATATATATATATATATAT, NM_001352679.1:c.*3247_*3248insGTATATATATATATATATATATAT, NR_148034.2:n.5150_5151insGTATAT, NR_148034.2:n.5150_5151insGTATATAT, NR_148034.2:n.5150_5151insGTATATATAT, NR_148034.2:n.5150_5151insGTATATATATAT, NR_148034.2:n.5150_5151insGTATATATATATAT, NR_148034.2:n.5150_5151insGTATATATATATATAT, NR_148034.2:n.5150_5151insGTATATATATATATATAT, NR_148034.2:n.5150_5151insGTATATATATATATATATAT, NR_148034.2:n.5150_5151insGTATATATATATATATATATAT, NR_148034.2:n.5150_5151insGTATATATATATATATATATATAT, NR_148034.1:n.5207_5208insGTATAT, NR_148034.1:n.5207_5208insGTATATAT, NR_148034.1:n.5207_5208insGTATATATAT, NR_148034.1:n.5207_5208insGTATATATATAT, NR_148034.1:n.5207_5208insGTATATATATATAT, NR_148034.1:n.5207_5208insGTATATATATATATAT, NR_148034.1:n.5207_5208insGTATATATATATATATAT, NR_148034.1:n.5207_5208insGTATATATATATATATATAT, NR_148034.1:n.5207_5208insGTATATATATATATATATATAT, NR_148034.1:n.5207_5208insGTATATATATATATATATATATAT, NM_001352677.2:c.*3333_*3334insGTATAT, NM_001352677.2:c.*3333_*3334insGTATATAT, NM_001352677.2:c.*3333_*3334insGTATATATAT, NM_001352677.2:c.*3333_*3334insGTATATATATAT, NM_001352677.2:c.*3333_*3334insGTATATATATATAT, NM_001352677.2:c.*3333_*3334insGTATATATATATATAT, NM_001352677.2:c.*3333_*3334insGTATATATATATATATAT, NM_001352677.2:c.*3333_*3334insGTATATATATATATATATAT, NM_001352677.2:c.*3333_*3334insGTATATATATATATATATATAT, NM_001352677.2:c.*3333_*3334insGTATATATATATATATATATATAT, NM_001352677.1:c.*3333_*3334insGTATAT, NM_001352677.1:c.*3333_*3334insGTATATAT, NM_001352677.1:c.*3333_*3334insGTATATATAT, NM_001352677.1:c.*3333_*3334insGTATATATATAT, NM_001352677.1:c.*3333_*3334insGTATATATATATAT, NM_001352677.1:c.*3333_*3334insGTATATATATATATAT, NM_001352677.1:c.*3333_*3334insGTATATATATATATATAT, NM_001352677.1:c.*3333_*3334insGTATATATATATATATATAT, NM_001352677.1:c.*3333_*3334insGTATATATATATATATATATAT, NM_001352677.1:c.*3333_*3334insGTATATATATATATATATATATAT

                        12.

                        rs1491057033 has merged into rs1553568430 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CACA>-,CA,CACACA,CACACACA [Show Flanks]
                          Chromosome:
                          2:202964910 (GRCh38)
                          2:203829633 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:202964900:ACACACACACACA:ACACACACA,NC_000002.12:202964900:ACACACACACACA:ACACACACACA,NC_000002.12:202964900:ACACACACACACA:ACACACACACACACA,NC_000002.12:202964900:ACACACACACACA:ACACACACACACACACA
                          Gene:
                          CARF (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          ACACACACACA=0./0 (ALFA)
                          AC=0.00042/7 (TOMMO)
                          AC=0.00055/1 (Korea1K)
                          HGVS:

                          13.

                          rs1490855158 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->AAAA [Show Flanks]
                            Chromosome:
                            2:202976060 (GRCh38)
                            2:203840784 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:202976060:A:AAAAA
                            Gene:
                            CARF (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            AAAAA=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1490854348 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:202925521 (GRCh38)
                              2:203790244 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:202925520:A:G
                              Gene:
                              CARF (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000142/2 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1490827692 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:202916381 (GRCh38)
                                2:203781104 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:202916380:C:T
                                Gene:
                                CARF (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1490782017 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:202986010 (GRCh38)
                                  2:203850733 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:202986009:G:A
                                  Gene:
                                  CARF (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.202986010G>A, NC_000002.11:g.203850733G>A, NM_024744.17:c.*2386G>A, NM_024744.16:c.*2386G>A, NM_024744.15:c.*2386G>A, NM_024744.14:c.*2386G>A, NM_001104586.4:c.*2386G>A, NM_001104586.3:c.*2386G>A, NM_001104586.2:c.*2386G>A, NM_001104586.1:c.*2386G>A, NM_001322428.3:c.*2386G>A, NM_001322428.2:c.*2386G>A, NM_001322427.3:c.*2386G>A, NM_001322427.2:c.*2386G>A, NM_001322427.1:c.*2386G>A, NR_136330.3:n.4703G>A, NR_136330.2:n.4760G>A, NM_001322429.3:c.*2386G>A, NM_001322429.2:c.*2386G>A, NM_001282911.3:c.*2386G>A, NM_001282911.2:c.*2386G>A, NM_001282911.1:c.*2386G>A, NM_001282910.3:c.*2386G>A, NM_001282910.2:c.*2386G>A, NM_001282910.1:c.*2386G>A, NM_001282912.3:c.*2386G>A, NM_001282912.2:c.*2386G>A, NM_001282912.1:c.*2386G>A, NR_136331.3:n.4264G>A, NR_136331.2:n.4321G>A, NR_148033.2:n.4661G>A, NR_148033.1:n.4718G>A, NM_001352676.2:c.*2386G>A, NM_001352676.1:c.*2386G>A, NM_001352678.2:c.*2386G>A, NM_001352678.1:c.*2386G>A, NM_001352679.2:c.*2386G>A, NM_001352679.1:c.*2386G>A, NR_148034.2:n.4289G>A, NR_148034.1:n.4346G>A, NM_001352677.2:c.*2472G>A, NM_001352677.1:c.*2472G>A, XR_007081622.1:n.5733G>A

                                  17.

                                  rs1490766195 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:202984512 (GRCh38)
                                    2:203849235 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:202984511:G:A
                                    Gene:
                                    CARF (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.202984512G>A, NC_000002.11:g.203849235G>A, NM_024744.17:c.*888G>A, NM_024744.16:c.*888G>A, NM_024744.15:c.*888G>A, NM_024744.14:c.*888G>A, NM_001104586.4:c.*888G>A, NM_001104586.3:c.*888G>A, NM_001104586.2:c.*888G>A, NM_001104586.1:c.*888G>A, NM_001322428.3:c.*888G>A, NM_001322428.2:c.*888G>A, NM_001322427.3:c.*888G>A, NM_001322427.2:c.*888G>A, NM_001322427.1:c.*888G>A, NR_136330.3:n.3205G>A, NR_136330.2:n.3262G>A, NM_001322429.3:c.*888G>A, NM_001322429.2:c.*888G>A, NM_001282911.3:c.*888G>A, NM_001282911.2:c.*888G>A, NM_001282911.1:c.*888G>A, NM_001282910.3:c.*888G>A, NM_001282910.2:c.*888G>A, NM_001282910.1:c.*888G>A, NM_001282912.3:c.*888G>A, NM_001282912.2:c.*888G>A, NM_001282912.1:c.*888G>A, NR_136331.3:n.2766G>A, NR_136331.2:n.2823G>A, NR_148033.2:n.3163G>A, NR_148033.1:n.3220G>A, NM_001352676.2:c.*888G>A, NM_001352676.1:c.*888G>A, NM_001352678.2:c.*888G>A, NM_001352678.1:c.*888G>A, NM_001352679.2:c.*888G>A, NM_001352679.1:c.*888G>A, NR_148034.2:n.2791G>A, NR_148034.1:n.2848G>A, NM_001352677.2:c.*974G>A, NM_001352677.1:c.*974G>A, XR_007081622.1:n.4235G>A

                                    18.

                                    rs1490742269 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:202967466 (GRCh38)
                                      2:203832189 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:202967465:T:C
                                      Gene:
                                      CARF (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490732779 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:202933680 (GRCh38)
                                        2:203798403 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:202933679:A:G
                                        Gene:
                                        CARF (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490717559 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:202966362 (GRCh38)
                                          2:203831085 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:202966361:C:T
                                          Gene:
                                          CARF (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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