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Items: 1 to 20 of 751

1.

rs1490839954 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:82985591 (GRCh38)
    10:84745347 (GRCh37)
    Canonical SPDI:
    NC_000010.11:82985590:G:A
    Gene:
    NRG3 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.82985591G>A, NC_000010.10:g.84745347G>A, NG_013373.1:g.1115278G>A, NM_001010848.4:c.2077G>A, NM_001010848.3:c.2077G>A, NM_001165973.2:c.1486G>A, NM_001165973.1:c.1486G>A, NR_163251.1:n.2425G>A, NM_001370082.1:c.1510G>A, NM_001370084.1:c.2149G>A, NM_001370081.1:c.2077G>A, NR_163253.1:n.2152G>A, NM_001165972.1:c.2074G>A, NR_163252.1:n.1663G>A, XM_011539172.4:c.2152G>A, XM_011539172.3:c.2152G>A, XM_011539172.2:c.2152G>A, XM_011539172.1:c.2152G>A, XM_011539173.4:c.2149G>A, XM_011539173.3:c.2149G>A, XM_011539173.2:c.2149G>A, XM_011539173.1:c.2149G>A, XM_011539175.4:c.2080G>A, XM_011539175.3:c.2080G>A, XM_011539175.2:c.2080G>A, XM_011539175.1:c.2080G>A, XM_017015573.3:c.2230G>A, XM_017015573.2:c.2230G>A, XM_017015573.1:c.2230G>A, XM_017015575.3:c.2227G>A, XM_017015575.2:c.2227G>A, XM_017015575.1:c.2227G>A, XM_017015574.3:c.2227G>A, XM_017015574.2:c.2227G>A, XM_017015574.1:c.2227G>A, XM_017015576.3:c.2224G>A, XM_017015576.2:c.2224G>A, XM_017015576.1:c.2224G>A, XM_017015577.3:c.2158G>A, XM_017015577.2:c.2158G>A, XM_017015577.1:c.2158G>A, XM_017015579.3:c.2155G>A, XM_017015579.2:c.2155G>A, XM_017015579.1:c.2155G>A, XM_017015578.3:c.2155G>A, XM_017015578.2:c.2155G>A, XM_017015578.1:c.2155G>A, XM_017015580.3:c.2152G>A, XM_017015580.2:c.2152G>A, XM_017015580.1:c.2152G>A, XM_011539178.3:c.1123G>A, XM_011539178.2:c.1123G>A, XM_011539178.1:c.1123G>A, XM_017015582.2:c.1372G>A, XM_017015582.1:c.1372G>A, XM_024447781.2:c.1099G>A, XM_024447781.1:c.1099G>A, XM_047424512.1:c.2122G>A, XM_047424513.1:c.1120G>A, NP_001010848.2:p.Ala693Thr, NP_001159445.1:p.Ala496Thr, NP_001357011.1:p.Ala504Thr, NP_001357013.1:p.Ala717Thr, NP_001357010.1:p.Ala693Thr, NP_001159444.1:p.Ala692Thr, XP_011537474.1:p.Ala718Thr, XP_011537475.1:p.Ala717Thr, XP_011537477.1:p.Ala694Thr, XP_016871062.1:p.Ala744Thr, XP_016871064.1:p.Ala743Thr, XP_016871063.1:p.Ala743Thr, XP_016871065.1:p.Ala742Thr, XP_016871066.1:p.Ala720Thr, XP_016871068.1:p.Ala719Thr, XP_016871067.1:p.Ala719Thr, XP_016871069.1:p.Ala718Thr, XP_011537480.1:p.Ala375Thr, XP_016871071.1:p.Ala458Thr, XP_024303549.1:p.Ala367Thr, XP_047280468.1:p.Ala708Thr, XP_047280469.1:p.Ala374Thr

    2.

    rs1490298485 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:82973911 (GRCh38)
      10:84733667 (GRCh37)
      Canonical SPDI:
      NC_000010.11:82973910:C:T
      Gene:
      NRG3 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.82973911C>T, NC_000010.10:g.84733667C>T, NG_013373.1:g.1103598C>T, NM_001010848.4:c.1408C>T, NM_001010848.3:c.1408C>T, NM_001165973.2:c.745C>T, NM_001165973.1:c.745C>T, NR_163251.1:n.1756C>T, NM_001370082.1:c.841C>T, NM_001370084.1:c.1408C>T, NM_001370081.1:c.1405C>T, NR_163253.1:n.1483C>T, NM_001165972.1:c.1405C>T, NR_163252.1:n.991C>T, XM_011539172.4:c.1408C>T, XM_011539172.3:c.1408C>T, XM_011539172.2:c.1408C>T, XM_011539172.1:c.1408C>T, XM_011539173.4:c.1405C>T, XM_011539173.3:c.1405C>T, XM_011539173.2:c.1405C>T, XM_011539173.1:c.1405C>T, XM_011539175.4:c.1408C>T, XM_011539175.3:c.1408C>T, XM_011539175.2:c.1408C>T, XM_011539175.1:c.1408C>T, XM_017015573.3:c.1486C>T, XM_017015573.2:c.1486C>T, XM_017015573.1:c.1486C>T, XM_017015575.3:c.1483C>T, XM_017015575.2:c.1483C>T, XM_017015575.1:c.1483C>T, XM_017015574.3:c.1486C>T, XM_017015574.2:c.1486C>T, XM_017015574.1:c.1486C>T, XM_017015576.3:c.1483C>T, XM_017015576.2:c.1483C>T, XM_017015576.1:c.1483C>T, XM_017015577.3:c.1486C>T, XM_017015577.2:c.1486C>T, XM_017015577.1:c.1486C>T, XM_017015579.3:c.1483C>T, XM_017015579.2:c.1483C>T, XM_017015579.1:c.1483C>T, XM_017015578.3:c.1486C>T, XM_017015578.2:c.1486C>T, XM_017015578.1:c.1486C>T, XM_017015580.3:c.1483C>T, XM_017015580.2:c.1483C>T, XM_017015580.1:c.1483C>T, XM_011539178.3:c.379C>T, XM_011539178.2:c.379C>T, XM_011539178.1:c.379C>T, XR_001747009.3:n.1633C>T, XR_001747009.2:n.1637C>T, XR_001747009.1:n.1523C>T, XM_017015582.2:c.628C>T, XM_017015582.1:c.628C>T, XM_024447781.2:c.358C>T, XM_024447781.1:c.358C>T, XM_047424512.1:c.1381C>T, XM_047424513.1:c.379C>T, NP_001010848.2:p.His470Tyr, NP_001159445.1:p.His249Tyr, NP_001357011.1:p.His281Tyr, NP_001357013.1:p.His470Tyr, NP_001357010.1:p.His469Tyr, NP_001159444.1:p.His469Tyr, XP_011537474.1:p.His470Tyr, XP_011537475.1:p.His469Tyr, XP_011537477.1:p.His470Tyr, XP_016871062.1:p.His496Tyr, XP_016871064.1:p.His495Tyr, XP_016871063.1:p.His496Tyr, XP_016871065.1:p.His495Tyr, XP_016871066.1:p.His496Tyr, XP_016871068.1:p.His495Tyr, XP_016871067.1:p.His496Tyr, XP_016871069.1:p.His495Tyr, XP_011537480.1:p.His127Tyr, XP_016871071.1:p.His210Tyr, XP_024303549.1:p.His120Tyr, XP_047280468.1:p.His461Tyr, XP_047280469.1:p.His127Tyr

      3.

      rs1489407654 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        10:81875399 (GRCh38)
        10:83635155 (GRCh37)
        Canonical SPDI:
        NC_000010.11:81875398:C:G,NC_000010.11:81875398:C:T
        Gene:
        NRG3 (Varview), LOC124902549 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000022/3 (GnomAD)
        HGVS:
        NC_000010.11:g.81875399C>G, NC_000010.11:g.81875399C>T, NC_000010.10:g.83635155C>G, NC_000010.10:g.83635155C>T, NG_013373.1:g.5086C>G, NG_013373.1:g.5086C>T, NM_001010848.4:c.59C>G, NM_001010848.4:c.59C>T, NM_001010848.3:c.59C>G, NM_001010848.3:c.59C>T, NR_163251.1:n.206C>G, NR_163251.1:n.206C>T, NM_001370082.1:c.-687C>G, NM_001370082.1:c.-687C>T, NM_001370084.1:c.59C>G, NM_001370084.1:c.59C>T, NM_001370081.1:c.59C>G, NM_001370081.1:c.59C>T, NM_001165972.1:c.59C>G, NM_001165972.1:c.59C>T, NM_001370083.1:c.59C>G, NM_001370083.1:c.59C>T, XM_011539172.4:c.59C>G, XM_011539172.4:c.59C>T, XM_011539172.3:c.59C>G, XM_011539172.3:c.59C>T, XM_011539172.2:c.59C>G, XM_011539172.2:c.59C>T, XM_011539172.1:c.59C>G, XM_011539172.1:c.59C>T, XM_011539173.4:c.59C>G, XM_011539173.4:c.59C>T, XM_011539173.3:c.59C>G, XM_011539173.3:c.59C>T, XM_011539173.2:c.59C>G, XM_011539173.2:c.59C>T, XM_011539173.1:c.59C>G, XM_011539173.1:c.59C>T, XM_011539175.4:c.59C>G, XM_011539175.4:c.59C>T, XM_011539175.3:c.59C>G, XM_011539175.3:c.59C>T, XM_011539175.2:c.59C>G, XM_011539175.2:c.59C>T, XM_011539175.1:c.59C>G, XM_011539175.1:c.59C>T, XM_017015573.3:c.59C>G, XM_017015573.3:c.59C>T, XM_017015573.2:c.59C>G, XM_017015573.2:c.59C>T, XM_017015573.1:c.59C>G, XM_017015573.1:c.59C>T, XM_017015575.3:c.59C>G, XM_017015575.3:c.59C>T, XM_017015575.2:c.59C>G, XM_017015575.2:c.59C>T, XM_017015575.1:c.59C>G, XM_017015575.1:c.59C>T, XM_017015574.3:c.59C>G, XM_017015574.3:c.59C>T, XM_017015574.2:c.59C>G, XM_017015574.2:c.59C>T, XM_017015574.1:c.59C>G, XM_017015574.1:c.59C>T, XM_017015576.3:c.59C>G, XM_017015576.3:c.59C>T, XM_017015576.2:c.59C>G, XM_017015576.2:c.59C>T, XM_017015576.1:c.59C>G, XM_017015576.1:c.59C>T, XM_017015577.3:c.59C>G, XM_017015577.3:c.59C>T, XM_017015577.2:c.59C>G, XM_017015577.2:c.59C>T, XM_017015577.1:c.59C>G, XM_017015577.1:c.59C>T, XM_017015579.3:c.59C>G, XM_017015579.3:c.59C>T, XM_017015579.2:c.59C>G, XM_017015579.2:c.59C>T, XM_017015579.1:c.59C>G, XM_017015579.1:c.59C>T, XM_017015578.3:c.59C>G, XM_017015578.3:c.59C>T, XM_017015578.2:c.59C>G, XM_017015578.2:c.59C>T, XM_017015578.1:c.59C>G, XM_017015578.1:c.59C>T, XM_017015580.3:c.59C>G, XM_017015580.3:c.59C>T, XM_017015580.2:c.59C>G, XM_017015580.2:c.59C>T, XM_017015580.1:c.59C>G, XM_017015580.1:c.59C>T, XM_017015584.3:c.59C>G, XM_017015584.3:c.59C>T, XM_017015584.2:c.59C>G, XM_017015584.2:c.59C>T, XM_017015584.1:c.59C>G, XM_017015584.1:c.59C>T, XR_001747009.3:n.206C>G, XR_001747009.3:n.206C>T, XR_001747009.2:n.210C>G, XR_001747009.2:n.210C>T, XR_001747009.1:n.96C>G, XR_001747009.1:n.96C>T, XM_047424512.1:c.59C>G, XM_047424512.1:c.59C>T, NP_001010848.2:p.Ser20Trp, NP_001010848.2:p.Ser20Leu, NP_001357013.1:p.Ser20Trp, NP_001357013.1:p.Ser20Leu, NP_001357010.1:p.Ser20Trp, NP_001357010.1:p.Ser20Leu, NP_001159444.1:p.Ser20Trp, NP_001159444.1:p.Ser20Leu, NP_001357012.1:p.Ser20Trp, NP_001357012.1:p.Ser20Leu, XP_011537474.1:p.Ser20Trp, XP_011537474.1:p.Ser20Leu, XP_011537475.1:p.Ser20Trp, XP_011537475.1:p.Ser20Leu, XP_011537477.1:p.Ser20Trp, XP_011537477.1:p.Ser20Leu, XP_016871062.1:p.Ser20Trp, XP_016871062.1:p.Ser20Leu, XP_016871064.1:p.Ser20Trp, XP_016871064.1:p.Ser20Leu, XP_016871063.1:p.Ser20Trp, XP_016871063.1:p.Ser20Leu, XP_016871065.1:p.Ser20Trp, XP_016871065.1:p.Ser20Leu, XP_016871066.1:p.Ser20Trp, XP_016871066.1:p.Ser20Leu, XP_016871068.1:p.Ser20Trp, XP_016871068.1:p.Ser20Leu, XP_016871067.1:p.Ser20Trp, XP_016871067.1:p.Ser20Leu, XP_016871069.1:p.Ser20Trp, XP_016871069.1:p.Ser20Leu, XP_016871073.1:p.Ser20Trp, XP_016871073.1:p.Ser20Leu, XP_047280468.1:p.Ser20Trp, XP_047280468.1:p.Ser20Leu

        4.

        rs1487387795 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->AGCCGCCGCCTCGGC [Show Flanks]
          Chromosome:
          10:81875382 (GRCh38)
          10:83635139 (GRCh37)
          Canonical SPDI:
          NC_000010.11:81875382:TCGGCAGCCGCCGCCTCGGC:TCGGCAGCCGCCGCCTCGGCAGCCGCCGCCTCGGC
          Gene:
          NRG3 (Varview), LOC124902549 (Varview)
          Functional Consequence:
          inframe_insertion,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          TCGGCAGCCGCCGCCTCGGCAGCCGCCGCCTCGGC=0./0 (ALFA)
          TCGGCAGCCGCCGCC=0.000004/1 (TOPMED)
          HGVS:
          NC_000010.11:g.81875388_81875402dup, NC_000010.10:g.83635144_83635158dup, NG_013373.1:g.5075_5089dup, NM_001010848.4:c.48_62dup, NM_001010848.3:c.48_62dup, NR_163251.1:n.195_209dup, NM_001370082.1:c.-698_-684dup, NM_001370084.1:c.48_62dup, NM_001370081.1:c.48_62dup, NM_001165972.1:c.48_62dup, NM_001370083.1:c.48_62dup, XM_011539172.4:c.48_62dup, XM_011539172.3:c.48_62dup, XM_011539172.2:c.48_62dup, XM_011539172.1:c.48_62dup, XM_011539173.4:c.48_62dup, XM_011539173.3:c.48_62dup, XM_011539173.2:c.48_62dup, XM_011539173.1:c.48_62dup, XM_011539175.4:c.48_62dup, XM_011539175.3:c.48_62dup, XM_011539175.2:c.48_62dup, XM_011539175.1:c.48_62dup, XM_017015573.3:c.48_62dup, XM_017015573.2:c.48_62dup, XM_017015573.1:c.48_62dup, XM_017015575.3:c.48_62dup, XM_017015575.2:c.48_62dup, XM_017015575.1:c.48_62dup, XM_017015574.3:c.48_62dup, XM_017015574.2:c.48_62dup, XM_017015574.1:c.48_62dup, XM_017015576.3:c.48_62dup, XM_017015576.2:c.48_62dup, XM_017015576.1:c.48_62dup, XM_017015577.3:c.48_62dup, XM_017015577.2:c.48_62dup, XM_017015577.1:c.48_62dup, XM_017015579.3:c.48_62dup, XM_017015579.2:c.48_62dup, XM_017015579.1:c.48_62dup, XM_017015578.3:c.48_62dup, XM_017015578.2:c.48_62dup, XM_017015578.1:c.48_62dup, XM_017015580.3:c.48_62dup, XM_017015580.2:c.48_62dup, XM_017015580.1:c.48_62dup, XM_017015584.3:c.48_62dup, XM_017015584.2:c.48_62dup, XM_017015584.1:c.48_62dup, XR_001747009.3:n.195_209dup, XR_001747009.2:n.199_213dup, XR_001747009.1:n.85_99dup, XM_047424512.1:c.48_62dup, NP_001010848.2:p.Ala17_Ala21dup, NP_001357013.1:p.Ala17_Ala21dup, NP_001357010.1:p.Ala17_Ala21dup, NP_001159444.1:p.Ala17_Ala21dup, NP_001357012.1:p.Ala17_Ala21dup, XP_011537474.1:p.Ala17_Ala21dup, XP_011537475.1:p.Ala17_Ala21dup, XP_011537477.1:p.Ala17_Ala21dup, XP_016871062.1:p.Ala17_Ala21dup, XP_016871064.1:p.Ala17_Ala21dup, XP_016871063.1:p.Ala17_Ala21dup, XP_016871065.1:p.Ala17_Ala21dup, XP_016871066.1:p.Ala17_Ala21dup, XP_016871068.1:p.Ala17_Ala21dup, XP_016871067.1:p.Ala17_Ala21dup, XP_016871069.1:p.Ala17_Ala21dup, XP_016871073.1:p.Ala17_Ala21dup, XP_047280468.1:p.Ala17_Ala21dup

          5.

          rs1487264964 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            10:82979103 (GRCh38)
            10:84738859 (GRCh37)
            Canonical SPDI:
            NC_000010.11:82979102:T:C
            Gene:
            NRG3 (Varview)
            Functional Consequence:
            downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.00005/1 (ALFA)
            C=0.00022/1 (Estonian)
            HGVS:
            NC_000010.11:g.82979103T>C, NC_000010.10:g.84738859T>C, NG_013373.1:g.1108790T>C, NM_001010848.4:c.1566T>C, NM_001010848.3:c.1566T>C, NM_001165973.2:c.903T>C, NM_001165973.1:c.903T>C, NR_163251.1:n.1914T>C, NM_001370082.1:c.999T>C, NM_001370084.1:c.1566T>C, NM_001370081.1:c.1566T>C, NR_163253.1:n.1641T>C, NM_001165972.1:c.1563T>C, NR_163252.1:n.1152T>C, XM_011539172.4:c.1569T>C, XM_011539172.3:c.1569T>C, XM_011539172.2:c.1569T>C, XM_011539172.1:c.1569T>C, XM_011539173.4:c.1566T>C, XM_011539173.3:c.1566T>C, XM_011539173.2:c.1566T>C, XM_011539173.1:c.1566T>C, XM_011539175.4:c.1569T>C, XM_011539175.3:c.1569T>C, XM_011539175.2:c.1569T>C, XM_011539175.1:c.1569T>C, XM_017015573.3:c.1647T>C, XM_017015573.2:c.1647T>C, XM_017015573.1:c.1647T>C, XM_017015575.3:c.1644T>C, XM_017015575.2:c.1644T>C, XM_017015575.1:c.1644T>C, XM_017015574.3:c.1644T>C, XM_017015574.2:c.1644T>C, XM_017015574.1:c.1644T>C, XM_017015576.3:c.1641T>C, XM_017015576.2:c.1641T>C, XM_017015576.1:c.1641T>C, XM_017015577.3:c.1647T>C, XM_017015577.2:c.1647T>C, XM_017015577.1:c.1647T>C, XM_017015579.3:c.1644T>C, XM_017015579.2:c.1644T>C, XM_017015579.1:c.1644T>C, XM_017015578.3:c.1644T>C, XM_017015578.2:c.1644T>C, XM_017015578.1:c.1644T>C, XM_017015580.3:c.1641T>C, XM_017015580.2:c.1641T>C, XM_017015580.1:c.1641T>C, XM_011539178.3:c.540T>C, XM_011539178.2:c.540T>C, XM_011539178.1:c.540T>C, XM_017015582.2:c.789T>C, XM_017015582.1:c.789T>C, XM_024447781.2:c.516T>C, XM_024447781.1:c.516T>C, XM_047424512.1:c.1539T>C, XM_047424513.1:c.537T>C

            6.

            rs1487104358 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              10:82979110 (GRCh38)
              10:84738866 (GRCh37)
              Canonical SPDI:
              NC_000010.11:82979109:C:G
              Gene:
              NRG3 (Varview)
              Functional Consequence:
              downstream_transcript_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000010.11:g.82979110C>G, NC_000010.10:g.84738866C>G, NG_013373.1:g.1108797C>G, NM_001010848.4:c.1573C>G, NM_001010848.3:c.1573C>G, NM_001165973.2:c.910C>G, NM_001165973.1:c.910C>G, NR_163251.1:n.1921C>G, NM_001370082.1:c.1006C>G, NM_001370084.1:c.1573C>G, NM_001370081.1:c.1573C>G, NR_163253.1:n.1648C>G, NM_001165972.1:c.1570C>G, NR_163252.1:n.1159C>G, XM_011539172.4:c.1576C>G, XM_011539172.3:c.1576C>G, XM_011539172.2:c.1576C>G, XM_011539172.1:c.1576C>G, XM_011539173.4:c.1573C>G, XM_011539173.3:c.1573C>G, XM_011539173.2:c.1573C>G, XM_011539173.1:c.1573C>G, XM_011539175.4:c.1576C>G, XM_011539175.3:c.1576C>G, XM_011539175.2:c.1576C>G, XM_011539175.1:c.1576C>G, XM_017015573.3:c.1654C>G, XM_017015573.2:c.1654C>G, XM_017015573.1:c.1654C>G, XM_017015575.3:c.1651C>G, XM_017015575.2:c.1651C>G, XM_017015575.1:c.1651C>G, XM_017015574.3:c.1651C>G, XM_017015574.2:c.1651C>G, XM_017015574.1:c.1651C>G, XM_017015576.3:c.1648C>G, XM_017015576.2:c.1648C>G, XM_017015576.1:c.1648C>G, XM_017015577.3:c.1654C>G, XM_017015577.2:c.1654C>G, XM_017015577.1:c.1654C>G, XM_017015579.3:c.1651C>G, XM_017015579.2:c.1651C>G, XM_017015579.1:c.1651C>G, XM_017015578.3:c.1651C>G, XM_017015578.2:c.1651C>G, XM_017015578.1:c.1651C>G, XM_017015580.3:c.1648C>G, XM_017015580.2:c.1648C>G, XM_017015580.1:c.1648C>G, XM_011539178.3:c.547C>G, XM_011539178.2:c.547C>G, XM_011539178.1:c.547C>G, XM_017015582.2:c.796C>G, XM_017015582.1:c.796C>G, XM_024447781.2:c.523C>G, XM_024447781.1:c.523C>G, XM_047424512.1:c.1546C>G, XM_047424513.1:c.544C>G, NP_001010848.2:p.Pro525Ala, NP_001159445.1:p.Pro304Ala, NP_001357011.1:p.Pro336Ala, NP_001357013.1:p.Pro525Ala, NP_001357010.1:p.Pro525Ala, NP_001159444.1:p.Pro524Ala, XP_011537474.1:p.Pro526Ala, XP_011537475.1:p.Pro525Ala, XP_011537477.1:p.Pro526Ala, XP_016871062.1:p.Pro552Ala, XP_016871064.1:p.Pro551Ala, XP_016871063.1:p.Pro551Ala, XP_016871065.1:p.Pro550Ala, XP_016871066.1:p.Pro552Ala, XP_016871068.1:p.Pro551Ala, XP_016871067.1:p.Pro551Ala, XP_016871069.1:p.Pro550Ala, XP_011537480.1:p.Pro183Ala, XP_016871071.1:p.Pro266Ala, XP_024303549.1:p.Pro175Ala, XP_047280468.1:p.Pro516Ala, XP_047280469.1:p.Pro182Ala

              7.

              rs1486420744 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:81876021 (GRCh38)
                10:83635777 (GRCh37)
                Canonical SPDI:
                NC_000010.11:81876020:G:A
                Gene:
                NRG3 (Varview), LOC124902549 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.81876021G>A, NC_000010.10:g.83635777G>A, NG_013373.1:g.5708G>A, NM_001010848.4:c.681G>A, NM_001010848.3:c.681G>A, NR_163251.1:n.828G>A, NM_001370082.1:c.-65G>A, NM_001370084.1:c.681G>A, NM_001370081.1:c.681G>A, NM_001165972.1:c.681G>A, NM_001370083.1:c.681G>A, XM_011539172.4:c.681G>A, XM_011539172.3:c.681G>A, XM_011539172.2:c.681G>A, XM_011539172.1:c.681G>A, XM_011539173.4:c.681G>A, XM_011539173.3:c.681G>A, XM_011539173.2:c.681G>A, XM_011539173.1:c.681G>A, XM_011539175.4:c.681G>A, XM_011539175.3:c.681G>A, XM_011539175.2:c.681G>A, XM_011539175.1:c.681G>A, XM_017015573.3:c.681G>A, XM_017015573.2:c.681G>A, XM_017015573.1:c.681G>A, XM_017015575.3:c.681G>A, XM_017015575.2:c.681G>A, XM_017015575.1:c.681G>A, XM_017015574.3:c.681G>A, XM_017015574.2:c.681G>A, XM_017015574.1:c.681G>A, XM_017015576.3:c.681G>A, XM_017015576.2:c.681G>A, XM_017015576.1:c.681G>A, XM_017015577.3:c.681G>A, XM_017015577.2:c.681G>A, XM_017015577.1:c.681G>A, XM_017015579.3:c.681G>A, XM_017015579.2:c.681G>A, XM_017015579.1:c.681G>A, XM_017015578.3:c.681G>A, XM_017015578.2:c.681G>A, XM_017015578.1:c.681G>A, XM_017015580.3:c.681G>A, XM_017015580.2:c.681G>A, XM_017015580.1:c.681G>A, XM_017015584.3:c.681G>A, XM_017015584.2:c.681G>A, XM_017015584.1:c.681G>A, XR_001747009.3:n.828G>A, XR_001747009.2:n.832G>A, XR_001747009.1:n.718G>A, XM_047424512.1:c.681G>A

                8.

                rs1485022180 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  10:81875762 (GRCh38)
                  10:83635518 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:81875761:C:T
                  Gene:
                  NRG3 (Varview), LOC124902549 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                  Validated:
                  by cluster
                  HGVS:
                  NC_000010.11:g.81875762C>T, NC_000010.10:g.83635518C>T, NG_013373.1:g.5449C>T, NM_001010848.4:c.422C>T, NM_001010848.3:c.422C>T, NR_163251.1:n.569C>T, NM_001370082.1:c.-324C>T, NM_001370084.1:c.422C>T, NM_001370081.1:c.422C>T, NM_001165972.1:c.422C>T, NM_001370083.1:c.422C>T, XM_011539172.4:c.422C>T, XM_011539172.3:c.422C>T, XM_011539172.2:c.422C>T, XM_011539172.1:c.422C>T, XM_011539173.4:c.422C>T, XM_011539173.3:c.422C>T, XM_011539173.2:c.422C>T, XM_011539173.1:c.422C>T, XM_011539175.4:c.422C>T, XM_011539175.3:c.422C>T, XM_011539175.2:c.422C>T, XM_011539175.1:c.422C>T, XM_017015573.3:c.422C>T, XM_017015573.2:c.422C>T, XM_017015573.1:c.422C>T, XM_017015575.3:c.422C>T, XM_017015575.2:c.422C>T, XM_017015575.1:c.422C>T, XM_017015574.3:c.422C>T, XM_017015574.2:c.422C>T, XM_017015574.1:c.422C>T, XM_017015576.3:c.422C>T, XM_017015576.2:c.422C>T, XM_017015576.1:c.422C>T, XM_017015577.3:c.422C>T, XM_017015577.2:c.422C>T, XM_017015577.1:c.422C>T, XM_017015579.3:c.422C>T, XM_017015579.2:c.422C>T, XM_017015579.1:c.422C>T, XM_017015578.3:c.422C>T, XM_017015578.2:c.422C>T, XM_017015578.1:c.422C>T, XM_017015580.3:c.422C>T, XM_017015580.2:c.422C>T, XM_017015580.1:c.422C>T, XM_017015584.3:c.422C>T, XM_017015584.2:c.422C>T, XM_017015584.1:c.422C>T, XR_001747009.3:n.569C>T, XR_001747009.2:n.573C>T, XR_001747009.1:n.459C>T, XM_047424512.1:c.422C>T, NP_001010848.2:p.Ser141Phe, NP_001357013.1:p.Ser141Phe, NP_001357010.1:p.Ser141Phe, NP_001159444.1:p.Ser141Phe, NP_001357012.1:p.Ser141Phe, XP_011537474.1:p.Ser141Phe, XP_011537475.1:p.Ser141Phe, XP_011537477.1:p.Ser141Phe, XP_016871062.1:p.Ser141Phe, XP_016871064.1:p.Ser141Phe, XP_016871063.1:p.Ser141Phe, XP_016871065.1:p.Ser141Phe, XP_016871066.1:p.Ser141Phe, XP_016871068.1:p.Ser141Phe, XP_016871067.1:p.Ser141Phe, XP_016871069.1:p.Ser141Phe, XP_016871073.1:p.Ser141Phe, XP_047280468.1:p.Ser141Phe

                  9.

                  rs1483612687 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    10:81875937 (GRCh38)
                    10:83635693 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:81875936:G:A
                    Gene:
                    NRG3 (Varview), LOC124902549 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_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_000010.11:g.81875937G>A, NC_000010.10:g.83635693G>A, NG_013373.1:g.5624G>A, NM_001010848.4:c.597G>A, NM_001010848.3:c.597G>A, NR_163251.1:n.744G>A, NM_001370082.1:c.-149G>A, NM_001370084.1:c.597G>A, NM_001370081.1:c.597G>A, NM_001165972.1:c.597G>A, NM_001370083.1:c.597G>A, XM_011539172.4:c.597G>A, XM_011539172.3:c.597G>A, XM_011539172.2:c.597G>A, XM_011539172.1:c.597G>A, XM_011539173.4:c.597G>A, XM_011539173.3:c.597G>A, XM_011539173.2:c.597G>A, XM_011539173.1:c.597G>A, XM_011539175.4:c.597G>A, XM_011539175.3:c.597G>A, XM_011539175.2:c.597G>A, XM_011539175.1:c.597G>A, XM_017015573.3:c.597G>A, XM_017015573.2:c.597G>A, XM_017015573.1:c.597G>A, XM_017015575.3:c.597G>A, XM_017015575.2:c.597G>A, XM_017015575.1:c.597G>A, XM_017015574.3:c.597G>A, XM_017015574.2:c.597G>A, XM_017015574.1:c.597G>A, XM_017015576.3:c.597G>A, XM_017015576.2:c.597G>A, XM_017015576.1:c.597G>A, XM_017015577.3:c.597G>A, XM_017015577.2:c.597G>A, XM_017015577.1:c.597G>A, XM_017015579.3:c.597G>A, XM_017015579.2:c.597G>A, XM_017015579.1:c.597G>A, XM_017015578.3:c.597G>A, XM_017015578.2:c.597G>A, XM_017015578.1:c.597G>A, XM_017015580.3:c.597G>A, XM_017015580.2:c.597G>A, XM_017015580.1:c.597G>A, XM_017015584.3:c.597G>A, XM_017015584.2:c.597G>A, XM_017015584.1:c.597G>A, XR_001747009.3:n.744G>A, XR_001747009.2:n.748G>A, XR_001747009.1:n.634G>A, XM_047424512.1:c.597G>A

                    10.

                    rs1483513515 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:82973813 (GRCh38)
                      10:84733569 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:82973812:T:C
                      Gene:
                      NRG3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000015/4 (TOPMED)
                      C=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000010.11:g.82973813T>C, NC_000010.10:g.84733569T>C, NG_013373.1:g.1103500T>C, NM_001010848.4:c.1310T>C, NM_001010848.3:c.1310T>C, NM_001165973.2:c.647T>C, NM_001165973.1:c.647T>C, NR_163251.1:n.1658T>C, NM_001370082.1:c.743T>C, NM_001370084.1:c.1310T>C, NM_001370081.1:c.1307T>C, NR_163253.1:n.1385T>C, NM_001165972.1:c.1307T>C, NR_163252.1:n.893T>C, XM_011539172.4:c.1310T>C, XM_011539172.3:c.1310T>C, XM_011539172.2:c.1310T>C, XM_011539172.1:c.1310T>C, XM_011539173.4:c.1307T>C, XM_011539173.3:c.1307T>C, XM_011539173.2:c.1307T>C, XM_011539173.1:c.1307T>C, XM_011539175.4:c.1310T>C, XM_011539175.3:c.1310T>C, XM_011539175.2:c.1310T>C, XM_011539175.1:c.1310T>C, XM_017015573.3:c.1388T>C, XM_017015573.2:c.1388T>C, XM_017015573.1:c.1388T>C, XM_017015575.3:c.1385T>C, XM_017015575.2:c.1385T>C, XM_017015575.1:c.1385T>C, XM_017015574.3:c.1388T>C, XM_017015574.2:c.1388T>C, XM_017015574.1:c.1388T>C, XM_017015576.3:c.1385T>C, XM_017015576.2:c.1385T>C, XM_017015576.1:c.1385T>C, XM_017015577.3:c.1388T>C, XM_017015577.2:c.1388T>C, XM_017015577.1:c.1388T>C, XM_017015579.3:c.1385T>C, XM_017015579.2:c.1385T>C, XM_017015579.1:c.1385T>C, XM_017015578.3:c.1388T>C, XM_017015578.2:c.1388T>C, XM_017015578.1:c.1388T>C, XM_017015580.3:c.1385T>C, XM_017015580.2:c.1385T>C, XM_017015580.1:c.1385T>C, XM_011539178.3:c.281T>C, XM_011539178.2:c.281T>C, XM_011539178.1:c.281T>C, XR_001747009.3:n.1535T>C, XR_001747009.2:n.1539T>C, XR_001747009.1:n.1425T>C, XM_017015582.2:c.530T>C, XM_017015582.1:c.530T>C, XM_024447781.2:c.260T>C, XM_024447781.1:c.260T>C, XM_047424512.1:c.1283T>C, XM_047424513.1:c.281T>C, NP_001010848.2:p.Val437Ala, NP_001159445.1:p.Val216Ala, NP_001357011.1:p.Val248Ala, NP_001357013.1:p.Val437Ala, NP_001357010.1:p.Val436Ala, NP_001159444.1:p.Val436Ala, XP_011537474.1:p.Val437Ala, XP_011537475.1:p.Val436Ala, XP_011537477.1:p.Val437Ala, XP_016871062.1:p.Val463Ala, XP_016871064.1:p.Val462Ala, XP_016871063.1:p.Val463Ala, XP_016871065.1:p.Val462Ala, XP_016871066.1:p.Val463Ala, XP_016871068.1:p.Val462Ala, XP_016871067.1:p.Val463Ala, XP_016871069.1:p.Val462Ala, XP_011537480.1:p.Val94Ala, XP_016871071.1:p.Val177Ala, XP_024303549.1:p.Val87Ala, XP_047280468.1:p.Val428Ala, XP_047280469.1:p.Val94Ala

                      11.

                      rs1483271224 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:82958983 (GRCh38)
                        10:84718739 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:82958982:G:A
                        Gene:
                        NRG3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000023/6 (TOPMED)
                        HGVS:
                        NC_000010.11:g.82958983G>A, NC_000010.10:g.84718739G>A, NG_013373.1:g.1088670G>A, NM_001010848.4:c.1192G>A, NM_001010848.3:c.1192G>A, NM_001165973.2:c.529G>A, NM_001165973.1:c.529G>A, NR_163251.1:n.1540G>A, NM_001370082.1:c.625G>A, NM_001370084.1:c.1192G>A, NM_001370081.1:c.1189G>A, NR_163253.1:n.1267G>A, NM_001165972.1:c.1189G>A, NR_163252.1:n.775G>A, XM_011539172.4:c.1192G>A, XM_011539172.3:c.1192G>A, XM_011539172.2:c.1192G>A, XM_011539172.1:c.1192G>A, XM_011539173.4:c.1189G>A, XM_011539173.3:c.1189G>A, XM_011539173.2:c.1189G>A, XM_011539173.1:c.1189G>A, XM_011539175.4:c.1192G>A, XM_011539175.3:c.1192G>A, XM_011539175.2:c.1192G>A, XM_011539175.1:c.1192G>A, XM_017015573.3:c.1270G>A, XM_017015573.2:c.1270G>A, XM_017015573.1:c.1270G>A, XM_017015575.3:c.1267G>A, XM_017015575.2:c.1267G>A, XM_017015575.1:c.1267G>A, XM_017015574.3:c.1270G>A, XM_017015574.2:c.1270G>A, XM_017015574.1:c.1270G>A, XM_017015576.3:c.1267G>A, XM_017015576.2:c.1267G>A, XM_017015576.1:c.1267G>A, XM_017015577.3:c.1270G>A, XM_017015577.2:c.1270G>A, XM_017015577.1:c.1270G>A, XM_017015579.3:c.1267G>A, XM_017015579.2:c.1267G>A, XM_017015579.1:c.1267G>A, XM_017015578.3:c.1270G>A, XM_017015578.2:c.1270G>A, XM_017015578.1:c.1270G>A, XM_017015580.3:c.1267G>A, XM_017015580.2:c.1267G>A, XM_017015580.1:c.1267G>A, XM_011539178.3:c.163G>A, XM_011539178.2:c.163G>A, XM_011539178.1:c.163G>A, XR_001747009.3:n.1417G>A, XR_001747009.2:n.1421G>A, XR_001747009.1:n.1307G>A, XM_017015582.2:c.412G>A, XM_017015582.1:c.412G>A, XM_024447781.2:c.142G>A, XM_024447781.1:c.142G>A, XM_047424512.1:c.1165G>A, XM_047424513.1:c.163G>A, NP_001010848.2:p.Val398Met, NP_001159445.1:p.Val177Met, NP_001357011.1:p.Val209Met, NP_001357013.1:p.Val398Met, NP_001357010.1:p.Val397Met, NP_001159444.1:p.Val397Met, XP_011537474.1:p.Val398Met, XP_011537475.1:p.Val397Met, XP_011537477.1:p.Val398Met, XP_016871062.1:p.Val424Met, XP_016871064.1:p.Val423Met, XP_016871063.1:p.Val424Met, XP_016871065.1:p.Val423Met, XP_016871066.1:p.Val424Met, XP_016871068.1:p.Val423Met, XP_016871067.1:p.Val424Met, XP_016871069.1:p.Val423Met, XP_011537480.1:p.Val55Met, XP_016871071.1:p.Val138Met, XP_024303549.1:p.Val48Met, XP_047280468.1:p.Val389Met, XP_047280469.1:p.Val55Met

                        12.

                        rs1482291840 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          10:82865416 (GRCh38)
                          10:84625172 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:82865415:C:A
                          Gene:
                          NRG3 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.82865416C>A, NC_000010.10:g.84625172C>A, NG_013373.1:g.995103C>A, NM_001010848.4:c.1033C>A, NM_001010848.3:c.1033C>A, NM_001165973.2:c.370C>A, NM_001165973.1:c.370C>A, NR_163251.1:n.1381C>A, NM_001370082.1:c.466C>A, NM_001370084.1:c.1033C>A, NM_001370081.1:c.1030C>A, NR_163253.1:n.1108C>A, NM_001165972.1:c.1030C>A, NR_163252.1:n.616C>A, XM_011539172.4:c.1033C>A, XM_011539172.3:c.1033C>A, XM_011539172.2:c.1033C>A, XM_011539172.1:c.1033C>A, XM_011539173.4:c.1030C>A, XM_011539173.3:c.1030C>A, XM_011539173.2:c.1030C>A, XM_011539173.1:c.1030C>A, XM_011539175.4:c.1033C>A, XM_011539175.3:c.1033C>A, XM_011539175.2:c.1033C>A, XM_011539175.1:c.1033C>A, XM_017015573.3:c.1111C>A, XM_017015573.2:c.1111C>A, XM_017015573.1:c.1111C>A, XM_017015575.3:c.1108C>A, XM_017015575.2:c.1108C>A, XM_017015575.1:c.1108C>A, XM_017015574.3:c.1111C>A, XM_017015574.2:c.1111C>A, XM_017015574.1:c.1111C>A, XM_017015576.3:c.1108C>A, XM_017015576.2:c.1108C>A, XM_017015576.1:c.1108C>A, XM_017015577.3:c.1111C>A, XM_017015577.2:c.1111C>A, XM_017015577.1:c.1111C>A, XM_017015579.3:c.1108C>A, XM_017015579.2:c.1108C>A, XM_017015579.1:c.1108C>A, XM_017015578.3:c.1111C>A, XM_017015578.2:c.1111C>A, XM_017015578.1:c.1111C>A, XM_017015580.3:c.1108C>A, XM_017015580.2:c.1108C>A, XM_017015580.1:c.1108C>A, XR_001747009.3:n.1258C>A, XR_001747009.2:n.1262C>A, XR_001747009.1:n.1148C>A, XM_017015582.2:c.253C>A, XM_017015582.1:c.253C>A, XM_024447781.2:c.-18C>A, XM_024447781.1:c.-18C>A, NP_001010848.2:p.His345Asn, NP_001159445.1:p.His124Asn, NP_001357011.1:p.His156Asn, NP_001357013.1:p.His345Asn, NP_001357010.1:p.His344Asn, NP_001159444.1:p.His344Asn, XP_011537474.1:p.His345Asn, XP_011537475.1:p.His344Asn, XP_011537477.1:p.His345Asn, XP_016871062.1:p.His371Asn, XP_016871064.1:p.His370Asn, XP_016871063.1:p.His371Asn, XP_016871065.1:p.His370Asn, XP_016871066.1:p.His371Asn, XP_016871068.1:p.His370Asn, XP_016871067.1:p.His371Asn, XP_016871069.1:p.His370Asn, XP_016871071.1:p.His85Asn

                          13.

                          rs1482151759 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:82738622 (GRCh38)
                            10:84498378 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:82738621:G:A
                            Gene:
                            NRG3 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000012/3 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.82738622G>A, NC_000010.10:g.84498378G>A, NG_013373.1:g.868309G>A, NM_001010848.4:c.999G>A, NM_001010848.3:c.999G>A, NM_001165973.2:c.336G>A, NM_001165973.1:c.336G>A, NR_163251.1:n.1350G>A, NM_001370082.1:c.432G>A, NM_001370084.1:c.999G>A, NM_001370081.1:c.999G>A, NR_163253.1:n.986G>A, NM_001165972.1:c.999G>A, NR_163252.1:n.585G>A, XM_011539172.4:c.999G>A, XM_011539172.3:c.999G>A, XM_011539172.2:c.999G>A, XM_011539172.1:c.999G>A, XM_011539173.4:c.999G>A, XM_011539173.3:c.999G>A, XM_011539173.2:c.999G>A, XM_011539173.1:c.999G>A, XM_011539175.4:c.999G>A, XM_011539175.3:c.999G>A, XM_011539175.2:c.999G>A, XM_011539175.1:c.999G>A, XM_017015573.3:c.1077G>A, XM_017015573.2:c.1077G>A, XM_017015573.1:c.1077G>A, XM_017015575.3:c.1077G>A, XM_017015575.2:c.1077G>A, XM_017015575.1:c.1077G>A, XM_017015574.3:c.1077G>A, XM_017015574.2:c.1077G>A, XM_017015574.1:c.1077G>A, XM_017015576.3:c.1077G>A, XM_017015576.2:c.1077G>A, XM_017015576.1:c.1077G>A, XM_017015577.3:c.1077G>A, XM_017015577.2:c.1077G>A, XM_017015577.1:c.1077G>A, XM_017015579.3:c.1077G>A, XM_017015579.2:c.1077G>A, XM_017015579.1:c.1077G>A, XM_017015578.3:c.1077G>A, XM_017015578.2:c.1077G>A, XM_017015578.1:c.1077G>A, XM_017015580.3:c.1077G>A, XM_017015580.2:c.1077G>A, XM_017015580.1:c.1077G>A, XM_017015584.3:c.1077G>A, XM_017015584.2:c.1077G>A, XM_017015584.1:c.1077G>A, XR_001747009.3:n.1224G>A, XR_001747009.2:n.1228G>A, XR_001747009.1:n.1114G>A, XM_017015582.2:c.219G>A, XM_017015582.1:c.219G>A, XM_047424512.1:c.999G>A

                            14.

                            rs1481885480 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              10:81875713 (GRCh38)
                              10:83635469 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:81875712:A:G
                              Gene:
                              NRG3 (Varview), LOC124902549 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.81875713A>G, NC_000010.10:g.83635469A>G, NG_013373.1:g.5400A>G, NM_001010848.4:c.373A>G, NM_001010848.3:c.373A>G, NR_163251.1:n.520A>G, NM_001370082.1:c.-373A>G, NM_001370084.1:c.373A>G, NM_001370081.1:c.373A>G, NM_001165972.1:c.373A>G, NM_001370083.1:c.373A>G, XM_011539172.4:c.373A>G, XM_011539172.3:c.373A>G, XM_011539172.2:c.373A>G, XM_011539172.1:c.373A>G, XM_011539173.4:c.373A>G, XM_011539173.3:c.373A>G, XM_011539173.2:c.373A>G, XM_011539173.1:c.373A>G, XM_011539175.4:c.373A>G, XM_011539175.3:c.373A>G, XM_011539175.2:c.373A>G, XM_011539175.1:c.373A>G, XM_017015573.3:c.373A>G, XM_017015573.2:c.373A>G, XM_017015573.1:c.373A>G, XM_017015575.3:c.373A>G, XM_017015575.2:c.373A>G, XM_017015575.1:c.373A>G, XM_017015574.3:c.373A>G, XM_017015574.2:c.373A>G, XM_017015574.1:c.373A>G, XM_017015576.3:c.373A>G, XM_017015576.2:c.373A>G, XM_017015576.1:c.373A>G, XM_017015577.3:c.373A>G, XM_017015577.2:c.373A>G, XM_017015577.1:c.373A>G, XM_017015579.3:c.373A>G, XM_017015579.2:c.373A>G, XM_017015579.1:c.373A>G, XM_017015578.3:c.373A>G, XM_017015578.2:c.373A>G, XM_017015578.1:c.373A>G, XM_017015580.3:c.373A>G, XM_017015580.2:c.373A>G, XM_017015580.1:c.373A>G, XM_017015584.3:c.373A>G, XM_017015584.2:c.373A>G, XM_017015584.1:c.373A>G, XR_001747009.3:n.520A>G, XR_001747009.2:n.524A>G, XR_001747009.1:n.410A>G, XM_047424512.1:c.373A>G, NP_001010848.2:p.Met125Val, NP_001357013.1:p.Met125Val, NP_001357010.1:p.Met125Val, NP_001159444.1:p.Met125Val, NP_001357012.1:p.Met125Val, XP_011537474.1:p.Met125Val, XP_011537475.1:p.Met125Val, XP_011537477.1:p.Met125Val, XP_016871062.1:p.Met125Val, XP_016871064.1:p.Met125Val, XP_016871063.1:p.Met125Val, XP_016871065.1:p.Met125Val, XP_016871066.1:p.Met125Val, XP_016871068.1:p.Met125Val, XP_016871067.1:p.Met125Val, XP_016871069.1:p.Met125Val, XP_016871073.1:p.Met125Val, XP_047280468.1:p.Met125Val

                              15.

                              rs1481554656 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                10:81876065 (GRCh38)
                                10:83635821 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:81876064:G:C
                                Gene:
                                NRG3 (Varview), LOC124902549 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000010.11:g.81876065G>C, NC_000010.10:g.83635821G>C, NG_013373.1:g.5752G>C, NM_001010848.4:c.725G>C, NM_001010848.3:c.725G>C, NR_163251.1:n.872G>C, NM_001370082.1:c.-21G>C, NM_001370084.1:c.725G>C, NM_001370081.1:c.725G>C, NM_001165972.1:c.725G>C, NM_001370083.1:c.725G>C, XM_011539172.4:c.725G>C, XM_011539172.3:c.725G>C, XM_011539172.2:c.725G>C, XM_011539172.1:c.725G>C, XM_011539173.4:c.725G>C, XM_011539173.3:c.725G>C, XM_011539173.2:c.725G>C, XM_011539173.1:c.725G>C, XM_011539175.4:c.725G>C, XM_011539175.3:c.725G>C, XM_011539175.2:c.725G>C, XM_011539175.1:c.725G>C, XM_017015573.3:c.725G>C, XM_017015573.2:c.725G>C, XM_017015573.1:c.725G>C, XM_017015575.3:c.725G>C, XM_017015575.2:c.725G>C, XM_017015575.1:c.725G>C, XM_017015574.3:c.725G>C, XM_017015574.2:c.725G>C, XM_017015574.1:c.725G>C, XM_017015576.3:c.725G>C, XM_017015576.2:c.725G>C, XM_017015576.1:c.725G>C, XM_017015577.3:c.725G>C, XM_017015577.2:c.725G>C, XM_017015577.1:c.725G>C, XM_017015579.3:c.725G>C, XM_017015579.2:c.725G>C, XM_017015579.1:c.725G>C, XM_017015578.3:c.725G>C, XM_017015578.2:c.725G>C, XM_017015578.1:c.725G>C, XM_017015580.3:c.725G>C, XM_017015580.2:c.725G>C, XM_017015580.1:c.725G>C, XM_017015584.3:c.725G>C, XM_017015584.2:c.725G>C, XM_017015584.1:c.725G>C, XR_001747009.3:n.872G>C, XR_001747009.2:n.876G>C, XR_001747009.1:n.762G>C, XM_047424512.1:c.725G>C, NP_001010848.2:p.Trp242Ser, NP_001357013.1:p.Trp242Ser, NP_001357010.1:p.Trp242Ser, NP_001159444.1:p.Trp242Ser, NP_001357012.1:p.Trp242Ser, XP_011537474.1:p.Trp242Ser, XP_011537475.1:p.Trp242Ser, XP_011537477.1:p.Trp242Ser, XP_016871062.1:p.Trp242Ser, XP_016871064.1:p.Trp242Ser, XP_016871063.1:p.Trp242Ser, XP_016871065.1:p.Trp242Ser, XP_016871066.1:p.Trp242Ser, XP_016871068.1:p.Trp242Ser, XP_016871067.1:p.Trp242Ser, XP_016871069.1:p.Trp242Ser, XP_016871073.1:p.Trp242Ser, XP_047280468.1:p.Trp242Ser

                                16.

                                rs1481284542 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  10:82979083 (GRCh38)
                                  10:84738839 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:82979082:T:
                                  Gene:
                                  NRG3 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.82979083del, NC_000010.10:g.84738839del, NG_013373.1:g.1108770del, NM_001010848.4:c.1546del, NM_001010848.3:c.1546del, NM_001165973.2:c.883del, NM_001165973.1:c.883del, NR_163251.1:n.1894del, NM_001370082.1:c.979del, NM_001370084.1:c.1546del, NM_001370081.1:c.1546del, NR_163253.1:n.1621del, NM_001165972.1:c.1543del, NR_163252.1:n.1132del, XM_011539172.4:c.1549del, XM_011539172.3:c.1549del, XM_011539172.2:c.1549del, XM_011539172.1:c.1549del, XM_011539173.4:c.1546del, XM_011539173.3:c.1546del, XM_011539173.2:c.1546del, XM_011539173.1:c.1546del, XM_011539175.4:c.1549del, XM_011539175.3:c.1549del, XM_011539175.2:c.1549del, XM_011539175.1:c.1549del, XM_017015573.3:c.1627del, XM_017015573.2:c.1627del, XM_017015573.1:c.1627del, XM_017015575.3:c.1624del, XM_017015575.2:c.1624del, XM_017015575.1:c.1624del, XM_017015574.3:c.1624del, XM_017015574.2:c.1624del, XM_017015574.1:c.1624del, XM_017015576.3:c.1621del, XM_017015576.2:c.1621del, XM_017015576.1:c.1621del, XM_017015577.3:c.1627del, XM_017015577.2:c.1627del, XM_017015577.1:c.1627del, XM_017015579.3:c.1624del, XM_017015579.2:c.1624del, XM_017015579.1:c.1624del, XM_017015578.3:c.1624del, XM_017015578.2:c.1624del, XM_017015578.1:c.1624del, XM_017015580.3:c.1621del, XM_017015580.2:c.1621del, XM_017015580.1:c.1621del, XM_011539178.3:c.520del, XM_011539178.2:c.520del, XM_011539178.1:c.520del, XM_017015582.2:c.769del, XM_017015582.1:c.769del, XM_024447781.2:c.496del, XM_024447781.1:c.496del, XM_047424512.1:c.1519del, XM_047424513.1:c.517del, NP_001010848.2:p.Ser516fs, NP_001159445.1:p.Ser295fs, NP_001357011.1:p.Ser327fs, NP_001357013.1:p.Ser516fs, NP_001357010.1:p.Ser516fs, NP_001159444.1:p.Ser515fs, XP_011537474.1:p.Ser517fs, XP_011537475.1:p.Ser516fs, XP_011537477.1:p.Ser517fs, XP_016871062.1:p.Ser543fs, XP_016871064.1:p.Ser542fs, XP_016871063.1:p.Ser542fs, XP_016871065.1:p.Ser541fs, XP_016871066.1:p.Ser543fs, XP_016871068.1:p.Ser542fs, XP_016871067.1:p.Ser542fs, XP_016871069.1:p.Ser541fs, XP_011537480.1:p.Ser174fs, XP_016871071.1:p.Ser257fs, XP_024303549.1:p.Ser166fs, XP_047280468.1:p.Ser507fs, XP_047280469.1:p.Ser173fs

                                  17.

                                  rs1480953443 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    10:82985199 (GRCh38)
                                    10:84744955 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:82985198:A:C,NC_000010.11:82985198:A:G
                                    Gene:
                                    NRG3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                    HGVS:
                                    NC_000010.11:g.82985199A>C, NC_000010.11:g.82985199A>G, NC_000010.10:g.84744955A>C, NC_000010.10:g.84744955A>G, NG_013373.1:g.1114886A>C, NG_013373.1:g.1114886A>G, NM_001010848.4:c.1685A>C, NM_001010848.4:c.1685A>G, NM_001010848.3:c.1685A>C, NM_001010848.3:c.1685A>G, NM_001165973.2:c.1094A>C, NM_001165973.2:c.1094A>G, NM_001165973.1:c.1094A>C, NM_001165973.1:c.1094A>G, NR_163251.1:n.2033A>C, NR_163251.1:n.2033A>G, NM_001370082.1:c.1118A>C, NM_001370082.1:c.1118A>G, NM_001370084.1:c.1757A>C, NM_001370084.1:c.1757A>G, NM_001370081.1:c.1685A>C, NM_001370081.1:c.1685A>G, NR_163253.1:n.1760A>C, NR_163253.1:n.1760A>G, NM_001165972.1:c.1682A>C, NM_001165972.1:c.1682A>G, NR_163252.1:n.1271A>C, NR_163252.1:n.1271A>G, XM_011539172.4:c.1760A>C, XM_011539172.4:c.1760A>G, XM_011539172.3:c.1760A>C, XM_011539172.3:c.1760A>G, XM_011539172.2:c.1760A>C, XM_011539172.2:c.1760A>G, XM_011539172.1:c.1760A>C, XM_011539172.1:c.1760A>G, XM_011539173.4:c.1757A>C, XM_011539173.4:c.1757A>G, XM_011539173.3:c.1757A>C, XM_011539173.3:c.1757A>G, XM_011539173.2:c.1757A>C, XM_011539173.2:c.1757A>G, XM_011539173.1:c.1757A>C, XM_011539173.1:c.1757A>G, XM_011539175.4:c.1688A>C, XM_011539175.4:c.1688A>G, XM_011539175.3:c.1688A>C, XM_011539175.3:c.1688A>G, XM_011539175.2:c.1688A>C, XM_011539175.2:c.1688A>G, XM_011539175.1:c.1688A>C, XM_011539175.1:c.1688A>G, XM_017015573.3:c.1838A>C, XM_017015573.3:c.1838A>G, XM_017015573.2:c.1838A>C, XM_017015573.2:c.1838A>G, XM_017015573.1:c.1838A>C, XM_017015573.1:c.1838A>G, XM_017015575.3:c.1835A>C, XM_017015575.3:c.1835A>G, XM_017015575.2:c.1835A>C, XM_017015575.2:c.1835A>G, XM_017015575.1:c.1835A>C, XM_017015575.1:c.1835A>G, XM_017015574.3:c.1835A>C, XM_017015574.3:c.1835A>G, XM_017015574.2:c.1835A>C, XM_017015574.2:c.1835A>G, XM_017015574.1:c.1835A>C, XM_017015574.1:c.1835A>G, XM_017015576.3:c.1832A>C, XM_017015576.3:c.1832A>G, XM_017015576.2:c.1832A>C, XM_017015576.2:c.1832A>G, XM_017015576.1:c.1832A>C, XM_017015576.1:c.1832A>G, XM_017015577.3:c.1766A>C, XM_017015577.3:c.1766A>G, XM_017015577.2:c.1766A>C, XM_017015577.2:c.1766A>G, XM_017015577.1:c.1766A>C, XM_017015577.1:c.1766A>G, XM_017015579.3:c.1763A>C, XM_017015579.3:c.1763A>G, XM_017015579.2:c.1763A>C, XM_017015579.2:c.1763A>G, XM_017015579.1:c.1763A>C, XM_017015579.1:c.1763A>G, XM_017015578.3:c.1763A>C, XM_017015578.3:c.1763A>G, XM_017015578.2:c.1763A>C, XM_017015578.2:c.1763A>G, XM_017015578.1:c.1763A>C, XM_017015578.1:c.1763A>G, XM_017015580.3:c.1760A>C, XM_017015580.3:c.1760A>G, XM_017015580.2:c.1760A>C, XM_017015580.2:c.1760A>G, XM_017015580.1:c.1760A>C, XM_017015580.1:c.1760A>G, XM_011539178.3:c.731A>C, XM_011539178.3:c.731A>G, XM_011539178.2:c.731A>C, XM_011539178.2:c.731A>G, XM_011539178.1:c.731A>C, XM_011539178.1:c.731A>G, XM_017015582.2:c.980A>C, XM_017015582.2:c.980A>G, XM_017015582.1:c.980A>C, XM_017015582.1:c.980A>G, XM_024447781.2:c.707A>C, XM_024447781.2:c.707A>G, XM_024447781.1:c.707A>C, XM_024447781.1:c.707A>G, XM_047424512.1:c.1730A>C, XM_047424512.1:c.1730A>G, XM_047424513.1:c.728A>C, XM_047424513.1:c.728A>G, NP_001010848.2:p.Asp562Ala, NP_001010848.2:p.Asp562Gly, NP_001159445.1:p.Asp365Ala, NP_001159445.1:p.Asp365Gly, NP_001357011.1:p.Asp373Ala, NP_001357011.1:p.Asp373Gly, NP_001357013.1:p.Asp586Ala, NP_001357013.1:p.Asp586Gly, NP_001357010.1:p.Asp562Ala, NP_001357010.1:p.Asp562Gly, NP_001159444.1:p.Asp561Ala, NP_001159444.1:p.Asp561Gly, XP_011537474.1:p.Asp587Ala, XP_011537474.1:p.Asp587Gly, XP_011537475.1:p.Asp586Ala, XP_011537475.1:p.Asp586Gly, XP_011537477.1:p.Asp563Ala, XP_011537477.1:p.Asp563Gly, XP_016871062.1:p.Asp613Ala, XP_016871062.1:p.Asp613Gly, XP_016871064.1:p.Asp612Ala, XP_016871064.1:p.Asp612Gly, XP_016871063.1:p.Asp612Ala, XP_016871063.1:p.Asp612Gly, XP_016871065.1:p.Asp611Ala, XP_016871065.1:p.Asp611Gly, XP_016871066.1:p.Asp589Ala, XP_016871066.1:p.Asp589Gly, XP_016871068.1:p.Asp588Ala, XP_016871068.1:p.Asp588Gly, XP_016871067.1:p.Asp588Ala, XP_016871067.1:p.Asp588Gly, XP_016871069.1:p.Asp587Ala, XP_016871069.1:p.Asp587Gly, XP_011537480.1:p.Asp244Ala, XP_011537480.1:p.Asp244Gly, XP_016871071.1:p.Asp327Ala, XP_016871071.1:p.Asp327Gly, XP_024303549.1:p.Asp236Ala, XP_024303549.1:p.Asp236Gly, XP_047280468.1:p.Asp577Ala, XP_047280468.1:p.Asp577Gly, XP_047280469.1:p.Asp243Ala, XP_047280469.1:p.Asp243Gly

                                    18.

                                    rs1480072214 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      10:82978961 (GRCh38)
                                      10:84738717 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:82978960:C:T
                                      Gene:
                                      NRG3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000010.11:g.82978961C>T, NC_000010.10:g.84738717C>T, NG_013373.1:g.1108648C>T, NM_001010848.4:c.1424C>T, NM_001010848.3:c.1424C>T, NM_001165973.2:c.761C>T, NM_001165973.1:c.761C>T, NR_163251.1:n.1772C>T, NM_001370082.1:c.857C>T, NM_001370084.1:c.1424C>T, NM_001370081.1:c.1424C>T, NR_163253.1:n.1499C>T, NM_001165972.1:c.1421C>T, NR_163252.1:n.1010C>T, XM_011539172.4:c.1427C>T, XM_011539172.3:c.1427C>T, XM_011539172.2:c.1427C>T, XM_011539172.1:c.1427C>T, XM_011539173.4:c.1424C>T, XM_011539173.3:c.1424C>T, XM_011539173.2:c.1424C>T, XM_011539173.1:c.1424C>T, XM_011539175.4:c.1427C>T, XM_011539175.3:c.1427C>T, XM_011539175.2:c.1427C>T, XM_011539175.1:c.1427C>T, XM_017015573.3:c.1505C>T, XM_017015573.2:c.1505C>T, XM_017015573.1:c.1505C>T, XM_017015575.3:c.1502C>T, XM_017015575.2:c.1502C>T, XM_017015575.1:c.1502C>T, XM_017015574.3:c.1502C>T, XM_017015574.2:c.1502C>T, XM_017015574.1:c.1502C>T, XM_017015576.3:c.1499C>T, XM_017015576.2:c.1499C>T, XM_017015576.1:c.1499C>T, XM_017015577.3:c.1505C>T, XM_017015577.2:c.1505C>T, XM_017015577.1:c.1505C>T, XM_017015579.3:c.1502C>T, XM_017015579.2:c.1502C>T, XM_017015579.1:c.1502C>T, XM_017015578.3:c.1502C>T, XM_017015578.2:c.1502C>T, XM_017015578.1:c.1502C>T, XM_017015580.3:c.1499C>T, XM_017015580.2:c.1499C>T, XM_017015580.1:c.1499C>T, XM_011539178.3:c.398C>T, XM_011539178.2:c.398C>T, XM_011539178.1:c.398C>T, XR_001747009.3:n.1826C>T, XR_001747009.2:n.1830C>T, XR_001747009.1:n.1716C>T, XM_017015582.2:c.647C>T, XM_017015582.1:c.647C>T, XM_024447781.2:c.374C>T, XM_024447781.1:c.374C>T, XM_047424512.1:c.1397C>T, XM_047424513.1:c.395C>T, NP_001010848.2:p.Ser475Phe, NP_001159445.1:p.Ser254Phe, NP_001357011.1:p.Ser286Phe, NP_001357013.1:p.Ser475Phe, NP_001357010.1:p.Ser475Phe, NP_001159444.1:p.Ser474Phe, XP_011537474.1:p.Ser476Phe, XP_011537475.1:p.Ser475Phe, XP_011537477.1:p.Ser476Phe, XP_016871062.1:p.Ser502Phe, XP_016871064.1:p.Ser501Phe, XP_016871063.1:p.Ser501Phe, XP_016871065.1:p.Ser500Phe, XP_016871066.1:p.Ser502Phe, XP_016871068.1:p.Ser501Phe, XP_016871067.1:p.Ser501Phe, XP_016871069.1:p.Ser500Phe, XP_011537480.1:p.Ser133Phe, XP_016871071.1:p.Ser216Phe, XP_024303549.1:p.Ser125Phe, XP_047280468.1:p.Ser466Phe, XP_047280469.1:p.Ser132Phe

                                      19.

                                      rs1479702984 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        10:82985384 (GRCh38)
                                        10:84745140 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:82985383:C:G
                                        Gene:
                                        NRG3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.82985384C>G, NC_000010.10:g.84745140C>G, NG_013373.1:g.1115071C>G, NM_001010848.4:c.1870C>G, NM_001010848.3:c.1870C>G, NM_001165973.2:c.1279C>G, NM_001165973.1:c.1279C>G, NR_163251.1:n.2218C>G, NM_001370082.1:c.1303C>G, NM_001370084.1:c.1942C>G, NM_001370081.1:c.1870C>G, NR_163253.1:n.1945C>G, NM_001165972.1:c.1867C>G, NR_163252.1:n.1456C>G, XM_011539172.4:c.1945C>G, XM_011539172.3:c.1945C>G, XM_011539172.2:c.1945C>G, XM_011539172.1:c.1945C>G, XM_011539173.4:c.1942C>G, XM_011539173.3:c.1942C>G, XM_011539173.2:c.1942C>G, XM_011539173.1:c.1942C>G, XM_011539175.4:c.1873C>G, XM_011539175.3:c.1873C>G, XM_011539175.2:c.1873C>G, XM_011539175.1:c.1873C>G, XM_017015573.3:c.2023C>G, XM_017015573.2:c.2023C>G, XM_017015573.1:c.2023C>G, XM_017015575.3:c.2020C>G, XM_017015575.2:c.2020C>G, XM_017015575.1:c.2020C>G, XM_017015574.3:c.2020C>G, XM_017015574.2:c.2020C>G, XM_017015574.1:c.2020C>G, XM_017015576.3:c.2017C>G, XM_017015576.2:c.2017C>G, XM_017015576.1:c.2017C>G, XM_017015577.3:c.1951C>G, XM_017015577.2:c.1951C>G, XM_017015577.1:c.1951C>G, XM_017015579.3:c.1948C>G, XM_017015579.2:c.1948C>G, XM_017015579.1:c.1948C>G, XM_017015578.3:c.1948C>G, XM_017015578.2:c.1948C>G, XM_017015578.1:c.1948C>G, XM_017015580.3:c.1945C>G, XM_017015580.2:c.1945C>G, XM_017015580.1:c.1945C>G, XM_011539178.3:c.916C>G, XM_011539178.2:c.916C>G, XM_011539178.1:c.916C>G, XM_017015582.2:c.1165C>G, XM_017015582.1:c.1165C>G, XM_024447781.2:c.892C>G, XM_024447781.1:c.892C>G, XM_047424512.1:c.1915C>G, XM_047424513.1:c.913C>G, NP_001010848.2:p.Gln624Glu, NP_001159445.1:p.Gln427Glu, NP_001357011.1:p.Gln435Glu, NP_001357013.1:p.Gln648Glu, NP_001357010.1:p.Gln624Glu, NP_001159444.1:p.Gln623Glu, XP_011537474.1:p.Gln649Glu, XP_011537475.1:p.Gln648Glu, XP_011537477.1:p.Gln625Glu, XP_016871062.1:p.Gln675Glu, XP_016871064.1:p.Gln674Glu, XP_016871063.1:p.Gln674Glu, XP_016871065.1:p.Gln673Glu, XP_016871066.1:p.Gln651Glu, XP_016871068.1:p.Gln650Glu, XP_016871067.1:p.Gln650Glu, XP_016871069.1:p.Gln649Glu, XP_011537480.1:p.Gln306Glu, XP_016871071.1:p.Gln389Glu, XP_024303549.1:p.Gln298Glu, XP_047280468.1:p.Gln639Glu, XP_047280469.1:p.Gln305Glu

                                        20.

                                        rs1479205019 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:82985307 (GRCh38)
                                          10:84745063 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:82985306:T:C
                                          Gene:
                                          NRG3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.82985307T>C, NC_000010.10:g.84745063T>C, NG_013373.1:g.1114994T>C, NM_001010848.4:c.1793T>C, NM_001010848.3:c.1793T>C, NM_001165973.2:c.1202T>C, NM_001165973.1:c.1202T>C, NR_163251.1:n.2141T>C, NM_001370082.1:c.1226T>C, NM_001370084.1:c.1865T>C, NM_001370081.1:c.1793T>C, NR_163253.1:n.1868T>C, NM_001165972.1:c.1790T>C, NR_163252.1:n.1379T>C, XM_011539172.4:c.1868T>C, XM_011539172.3:c.1868T>C, XM_011539172.2:c.1868T>C, XM_011539172.1:c.1868T>C, XM_011539173.4:c.1865T>C, XM_011539173.3:c.1865T>C, XM_011539173.2:c.1865T>C, XM_011539173.1:c.1865T>C, XM_011539175.4:c.1796T>C, XM_011539175.3:c.1796T>C, XM_011539175.2:c.1796T>C, XM_011539175.1:c.1796T>C, XM_017015573.3:c.1946T>C, XM_017015573.2:c.1946T>C, XM_017015573.1:c.1946T>C, XM_017015575.3:c.1943T>C, XM_017015575.2:c.1943T>C, XM_017015575.1:c.1943T>C, XM_017015574.3:c.1943T>C, XM_017015574.2:c.1943T>C, XM_017015574.1:c.1943T>C, XM_017015576.3:c.1940T>C, XM_017015576.2:c.1940T>C, XM_017015576.1:c.1940T>C, XM_017015577.3:c.1874T>C, XM_017015577.2:c.1874T>C, XM_017015577.1:c.1874T>C, XM_017015579.3:c.1871T>C, XM_017015579.2:c.1871T>C, XM_017015579.1:c.1871T>C, XM_017015578.3:c.1871T>C, XM_017015578.2:c.1871T>C, XM_017015578.1:c.1871T>C, XM_017015580.3:c.1868T>C, XM_017015580.2:c.1868T>C, XM_017015580.1:c.1868T>C, XM_011539178.3:c.839T>C, XM_011539178.2:c.839T>C, XM_011539178.1:c.839T>C, XM_017015582.2:c.1088T>C, XM_017015582.1:c.1088T>C, XM_024447781.2:c.815T>C, XM_024447781.1:c.815T>C, XM_047424512.1:c.1838T>C, XM_047424513.1:c.836T>C, NP_001010848.2:p.Ile598Thr, NP_001159445.1:p.Ile401Thr, NP_001357011.1:p.Ile409Thr, NP_001357013.1:p.Ile622Thr, NP_001357010.1:p.Ile598Thr, NP_001159444.1:p.Ile597Thr, XP_011537474.1:p.Ile623Thr, XP_011537475.1:p.Ile622Thr, XP_011537477.1:p.Ile599Thr, XP_016871062.1:p.Ile649Thr, XP_016871064.1:p.Ile648Thr, XP_016871063.1:p.Ile648Thr, XP_016871065.1:p.Ile647Thr, XP_016871066.1:p.Ile625Thr, XP_016871068.1:p.Ile624Thr, XP_016871067.1:p.Ile624Thr, XP_016871069.1:p.Ile623Thr, XP_011537480.1:p.Ile280Thr, XP_016871071.1:p.Ile363Thr, XP_024303549.1:p.Ile272Thr, XP_047280468.1:p.Ile613Thr, XP_047280469.1:p.Ile279Thr

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