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Links from Protein

Items: 1 to 20 of 444

1.

rs1490781599 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTCACTGAAC>- [Show Flanks]
    Chromosome:
    9:112224151 (GRCh38)
    9:114986431 (GRCh37)
    Canonical SPDI:
    NC_000009.12:112224149:CTTCACTGAAC:C
    Gene:
    PTBP3 (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.112224151_112224160del, NC_000009.11:g.114986431_114986440del, NM_005156.7:c.1500_1509del, NM_005156.6:c.1500_1509del, NM_001163788.4:c.1416_1425del, NM_001163788.3:c.1416_1425del, NM_001163788.2:c.1416_1425del, XM_011519265.2:c.1527_1536del, XM_011519265.1:c.1527_1536del, NM_001163790.2:c.1509_1518del, NM_001244896.2:c.1215_1224del, NM_001244896.1:c.1215_1224del, NM_001244897.2:c.1416_1425del, NM_001244897.1:c.1416_1425del, XM_047424271.1:c.1416_1425del, XM_047424272.1:c.1416_1425del, XM_047424273.1:c.1215_1224del, XM_047424274.1:c.1200_1209del, XM_047424267.1:c.1518_1527del, XM_047424268.1:c.1509_1518del, NM_001244898.1:c.1518_1527del, XM_047424270.1:c.1506_1515del, XM_047424265.1:c.1563_1572del, XM_047424266.1:c.1554_1563del, NM_001375918.1:c.1407_1416del, NM_001375920.1:c.1200_1209del, NP_005147.3:p.Cys500fs, NP_001157260.1:p.Cys472fs, XP_011517567.1:p.Cys509fs, NP_001157262.1:p.Cys503fs, NP_001231825.1:p.Cys405fs, NP_001231826.1:p.Cys472fs, XP_047280227.1:p.Cys472fs, XP_047280228.1:p.Cys472fs, XP_047280229.1:p.Cys405fs, XP_047280230.1:p.Cys400fs, XP_047280223.1:p.Cys506fs, XP_047280224.1:p.Cys503fs, NP_001231827.1:p.Cys506fs, XP_047280226.1:p.Cys502fs, XP_047280221.1:p.Cys521fs, XP_047280222.1:p.Cys518fs, NP_001362847.1:p.Cys469fs, NP_001362849.1:p.Cys400fs

    2.

    rs1489892574 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      9:112268150 (GRCh38)
      9:115030430 (GRCh37)
      Canonical SPDI:
      NC_000009.12:112268149:T:C
      Gene:
      PTBP3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.112268150T>C, NC_000009.11:g.115030430T>C, NM_005156.7:c.334A>G, NM_005156.6:c.334A>G, NM_001163788.4:c.250A>G, NM_001163788.3:c.250A>G, NM_001163788.2:c.250A>G, XM_011519265.2:c.361A>G, XM_011519265.1:c.361A>G, NM_001163790.2:c.343A>G, NM_001244896.2:c.49A>G, NM_001244896.1:c.49A>G, NM_001244897.2:c.250A>G, NM_001244897.1:c.250A>G, XM_047424271.1:c.250A>G, XM_047424272.1:c.250A>G, XM_047424273.1:c.49A>G, XM_047424274.1:c.34A>G, XM_047424267.1:c.352A>G, XM_047424268.1:c.343A>G, NM_001244898.1:c.352A>G, XM_047424270.1:c.340A>G, XM_047424265.1:c.397A>G, XM_047424266.1:c.388A>G, NM_001375918.1:c.241A>G, NM_001375920.1:c.34A>G, NP_005147.3:p.Asn112Asp, NP_001157260.1:p.Asn84Asp, XP_011517567.1:p.Asn121Asp, NP_001157262.1:p.Asn115Asp, NP_001231825.1:p.Asn17Asp, NP_001231826.1:p.Asn84Asp, XP_047280227.1:p.Asn84Asp, XP_047280228.1:p.Asn84Asp, XP_047280229.1:p.Asn17Asp, XP_047280230.1:p.Asn12Asp, XP_047280223.1:p.Asn118Asp, XP_047280224.1:p.Asn115Asp, NP_001231827.1:p.Asn118Asp, XP_047280226.1:p.Asn114Asp, XP_047280221.1:p.Asn133Asp, XP_047280222.1:p.Asn130Asp, NP_001362847.1:p.Asn81Asp, NP_001362849.1:p.Asn12Asp

      3.

      rs1489636808 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:112228461 (GRCh38)
        9:114990741 (GRCh37)
        Canonical SPDI:
        NC_000009.12:112228460:C:T
        Gene:
        PTBP3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000009.12:g.112228461C>T, NC_000009.11:g.114990741C>T, NM_005156.7:c.1150G>A, NM_005156.6:c.1150G>A, NM_001163788.4:c.1066G>A, NM_001163788.3:c.1066G>A, NM_001163788.2:c.1066G>A, XM_011519265.2:c.1177G>A, XM_011519265.1:c.1177G>A, NM_001163790.2:c.1159G>A, NM_001244896.2:c.865G>A, NM_001244896.1:c.865G>A, NM_001244897.2:c.1066G>A, NM_001244897.1:c.1066G>A, XM_047424271.1:c.1066G>A, XM_047424272.1:c.1066G>A, XM_047424273.1:c.865G>A, XM_047424274.1:c.850G>A, XM_047424267.1:c.1168G>A, XM_047424268.1:c.1159G>A, NM_001244898.1:c.1168G>A, XM_047424270.1:c.1156G>A, XM_047424265.1:c.1213G>A, XM_047424266.1:c.1204G>A, NM_001375918.1:c.1057G>A, NM_001375920.1:c.850G>A, NP_005147.3:p.Asp384Asn, NP_001157260.1:p.Asp356Asn, XP_011517567.1:p.Asp393Asn, NP_001157262.1:p.Asp387Asn, NP_001231825.1:p.Asp289Asn, NP_001231826.1:p.Asp356Asn, XP_047280227.1:p.Asp356Asn, XP_047280228.1:p.Asp356Asn, XP_047280229.1:p.Asp289Asn, XP_047280230.1:p.Asp284Asn, XP_047280223.1:p.Asp390Asn, XP_047280224.1:p.Asp387Asn, NP_001231827.1:p.Asp390Asn, XP_047280226.1:p.Asp386Asn, XP_047280221.1:p.Asp405Asn, XP_047280222.1:p.Asp402Asn, NP_001362847.1:p.Asp353Asn, NP_001362849.1:p.Asp284Asn

        4.

        rs1488440337 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          9:112223934 (GRCh38)
          9:114986214 (GRCh37)
          Canonical SPDI:
          NC_000009.12:112223933:T:C
          Gene:
          PTBP3 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.112223934T>C, NC_000009.11:g.114986214T>C, NM_005156.7:c.1576A>G, NM_005156.6:c.1576A>G, NM_001163788.4:c.1492A>G, NM_001163788.3:c.1492A>G, NM_001163788.2:c.1492A>G, XM_011519265.2:c.1603A>G, XM_011519265.1:c.1603A>G, NM_001163790.2:c.1585A>G, NM_001244896.2:c.1291A>G, NM_001244896.1:c.1291A>G, XM_047424271.1:c.1492A>G, XM_047424272.1:c.1492A>G, XM_047424273.1:c.1291A>G, XM_047424274.1:c.1276A>G, XM_047424267.1:c.1594A>G, XM_047424268.1:c.1585A>G, NM_001244898.1:c.1594A>G, XM_047424270.1:c.1582A>G, XM_047424265.1:c.1639A>G, XM_047424266.1:c.1630A>G, NM_001375918.1:c.1483A>G, NM_001375920.1:c.1276A>G, NP_005147.3:p.Ile526Val, NP_001157260.1:p.Ile498Val, XP_011517567.1:p.Ile535Val, NP_001157262.1:p.Ile529Val, NP_001231825.1:p.Ile431Val, XP_047280227.1:p.Ile498Val, XP_047280228.1:p.Ile498Val, XP_047280229.1:p.Ile431Val, XP_047280230.1:p.Ile426Val, XP_047280223.1:p.Ile532Val, XP_047280224.1:p.Ile529Val, NP_001231827.1:p.Ile532Val, XP_047280226.1:p.Ile528Val, XP_047280221.1:p.Ile547Val, XP_047280222.1:p.Ile544Val, NP_001362847.1:p.Ile495Val, NP_001362849.1:p.Ile426Val

          5.

          rs1486278364 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            9:112251067 (GRCh38)
            9:115013347 (GRCh37)
            Canonical SPDI:
            NC_000009.12:112251066:T:C
            Gene:
            PTBP3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.112251067T>C, NC_000009.11:g.115013347T>C, NM_005156.7:c.748A>G, NM_005156.6:c.748A>G, NM_001163788.4:c.664A>G, NM_001163788.3:c.664A>G, NM_001163788.2:c.664A>G, XM_011519265.2:c.775A>G, XM_011519265.1:c.775A>G, NM_001163790.2:c.757A>G, NM_001244896.2:c.463A>G, NM_001244896.1:c.463A>G, NM_001244897.2:c.664A>G, NM_001244897.1:c.664A>G, XM_047424271.1:c.664A>G, XM_047424272.1:c.664A>G, XM_047424273.1:c.463A>G, XM_047424274.1:c.448A>G, XM_047424267.1:c.766A>G, XM_047424268.1:c.757A>G, NM_001244898.1:c.766A>G, XM_047424270.1:c.754A>G, XM_047424265.1:c.811A>G, XM_047424266.1:c.802A>G, NM_001375918.1:c.655A>G, NM_001375920.1:c.448A>G, NP_005147.3:p.Thr250Ala, NP_001157260.1:p.Thr222Ala, XP_011517567.1:p.Thr259Ala, NP_001157262.1:p.Thr253Ala, NP_001231825.1:p.Thr155Ala, NP_001231826.1:p.Thr222Ala, XP_047280227.1:p.Thr222Ala, XP_047280228.1:p.Thr222Ala, XP_047280229.1:p.Thr155Ala, XP_047280230.1:p.Thr150Ala, XP_047280223.1:p.Thr256Ala, XP_047280224.1:p.Thr253Ala, NP_001231827.1:p.Thr256Ala, XP_047280226.1:p.Thr252Ala, XP_047280221.1:p.Thr271Ala, XP_047280222.1:p.Thr268Ala, NP_001362847.1:p.Thr219Ala, NP_001362849.1:p.Thr150Ala

            6.

            rs1486253730 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->CGTTAAG [Show Flanks]
              Chromosome:
              9:112228425 (GRCh38)
              9:114990706 (GRCh37)
              Canonical SPDI:
              NC_000009.12:112228425::CGTTAAG
              Gene:
              PTBP3 (Varview)
              Functional Consequence:
              coding_sequence_variant,frameshift_variant
              HGVS:
              NC_000009.12:g.112228425_112228426insCGTTAAG, NC_000009.11:g.114990705_114990706insCGTTAAG, NM_005156.7:c.1185_1186insCTTAACG, NM_005156.6:c.1185_1186insCTTAACG, NM_001163788.4:c.1101_1102insCTTAACG, NM_001163788.3:c.1101_1102insCTTAACG, NM_001163788.2:c.1101_1102insCTTAACG, XM_011519265.2:c.1212_1213insCTTAACG, XM_011519265.1:c.1212_1213insCTTAACG, NM_001163790.2:c.1194_1195insCTTAACG, NM_001244896.2:c.900_901insCTTAACG, NM_001244896.1:c.900_901insCTTAACG, NM_001244897.2:c.1101_1102insCTTAACG, NM_001244897.1:c.1101_1102insCTTAACG, XM_047424271.1:c.1101_1102insCTTAACG, XM_047424272.1:c.1101_1102insCTTAACG, XM_047424273.1:c.900_901insCTTAACG, XM_047424274.1:c.885_886insCTTAACG, XM_047424267.1:c.1203_1204insCTTAACG, XM_047424268.1:c.1194_1195insCTTAACG, NM_001244898.1:c.1203_1204insCTTAACG, XM_047424270.1:c.1191_1192insCTTAACG, XM_047424265.1:c.1248_1249insCTTAACG, XM_047424266.1:c.1239_1240insCTTAACG, NM_001375918.1:c.1092_1093insCTTAACG, NM_001375920.1:c.885_886insCTTAACG, NP_005147.3:p.Glu396fs, NP_001157260.1:p.Glu368fs, XP_011517567.1:p.Glu405fs, NP_001157262.1:p.Glu399fs, NP_001231825.1:p.Glu301fs, NP_001231826.1:p.Glu368fs, XP_047280227.1:p.Glu368fs, XP_047280228.1:p.Glu368fs, XP_047280229.1:p.Glu301fs, XP_047280230.1:p.Glu296fs, XP_047280223.1:p.Glu402fs, XP_047280224.1:p.Glu399fs, NP_001231827.1:p.Glu402fs, XP_047280226.1:p.Glu398fs, XP_047280221.1:p.Glu417fs, XP_047280222.1:p.Glu414fs, NP_001362847.1:p.Glu365fs, NP_001362849.1:p.Glu296fs

              7.

              rs1485603307 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:112250967 (GRCh38)
                9:115013247 (GRCh37)
                Canonical SPDI:
                NC_000009.12:112250966:C:T
                Gene:
                PTBP3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                HGVS:
                NC_000009.12:g.112250967C>T, NC_000009.11:g.115013247C>T, NM_005156.7:c.848G>A, NM_005156.6:c.848G>A, NM_001163788.4:c.764G>A, NM_001163788.3:c.764G>A, NM_001163788.2:c.764G>A, XM_011519265.2:c.875G>A, XM_011519265.1:c.875G>A, NM_001163790.2:c.857G>A, NM_001244896.2:c.563G>A, NM_001244896.1:c.563G>A, NM_001244897.2:c.764G>A, NM_001244897.1:c.764G>A, XM_047424271.1:c.764G>A, XM_047424272.1:c.764G>A, XM_047424273.1:c.563G>A, XM_047424274.1:c.548G>A, XM_047424267.1:c.866G>A, XM_047424268.1:c.857G>A, NM_001244898.1:c.866G>A, XM_047424270.1:c.854G>A, XM_047424265.1:c.911G>A, XM_047424266.1:c.902G>A, NM_001375918.1:c.755G>A, NM_001375920.1:c.548G>A, NP_005147.3:p.Gly283Asp, NP_001157260.1:p.Gly255Asp, XP_011517567.1:p.Gly292Asp, NP_001157262.1:p.Gly286Asp, NP_001231825.1:p.Gly188Asp, NP_001231826.1:p.Gly255Asp, XP_047280227.1:p.Gly255Asp, XP_047280228.1:p.Gly255Asp, XP_047280229.1:p.Gly188Asp, XP_047280230.1:p.Gly183Asp, XP_047280223.1:p.Gly289Asp, XP_047280224.1:p.Gly286Asp, NP_001231827.1:p.Gly289Asp, XP_047280226.1:p.Gly285Asp, XP_047280221.1:p.Gly304Asp, XP_047280222.1:p.Gly301Asp, NP_001362847.1:p.Gly252Asp, NP_001362849.1:p.Gly183Asp

                8.

                rs1485455995 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:112227520 (GRCh38)
                  9:114989800 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:112227519:G:A
                  Gene:
                  PTBP3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1482199506 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    9:112275874 (GRCh38)
                    9:115038154 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:112275873:A:C
                    Gene:
                    PTBP3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000031/1 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1481812599 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      9:112227605 (GRCh38)
                      9:114989885 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:112227604:C:A
                      Gene:
                      PTBP3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.0003/3 (ALFA)
                      HGVS:
                      NC_000009.12:g.112227605C>A, NC_000009.11:g.114989885C>A, NM_005156.7:c.1254G>T, NM_005156.6:c.1254G>T, NM_001163788.4:c.1170G>T, NM_001163788.3:c.1170G>T, NM_001163788.2:c.1170G>T, XM_011519265.2:c.1281G>T, XM_011519265.1:c.1281G>T, NM_001163790.2:c.1263G>T, NM_001244896.2:c.969G>T, NM_001244896.1:c.969G>T, NM_001244897.2:c.1170G>T, NM_001244897.1:c.1170G>T, XM_047424271.1:c.1170G>T, XM_047424272.1:c.1170G>T, XM_047424273.1:c.969G>T, XM_047424274.1:c.954G>T, XM_047424267.1:c.1272G>T, XM_047424268.1:c.1263G>T, NM_001244898.1:c.1272G>T, XM_047424270.1:c.1260G>T, XM_047424265.1:c.1317G>T, XM_047424266.1:c.1308G>T, NM_001375918.1:c.1161G>T, NM_001375920.1:c.954G>T, NP_005147.3:p.Gln418His, NP_001157260.1:p.Gln390His, XP_011517567.1:p.Gln427His, NP_001157262.1:p.Gln421His, NP_001231825.1:p.Gln323His, NP_001231826.1:p.Gln390His, XP_047280227.1:p.Gln390His, XP_047280228.1:p.Gln390His, XP_047280229.1:p.Gln323His, XP_047280230.1:p.Gln318His, XP_047280223.1:p.Gln424His, XP_047280224.1:p.Gln421His, NP_001231827.1:p.Gln424His, XP_047280226.1:p.Gln420His, XP_047280221.1:p.Gln439His, XP_047280222.1:p.Gln436His, NP_001362847.1:p.Gln387His, NP_001362849.1:p.Gln318His

                      11.

                      rs1477548096 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:112227615 (GRCh38)
                        9:114989895 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:112227614:A:G
                        Gene:
                        PTBP3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        HGVS:
                        NC_000009.12:g.112227615A>G, NC_000009.11:g.114989895A>G, NM_005156.7:c.1244T>C, NM_005156.6:c.1244T>C, NM_001163788.4:c.1160T>C, NM_001163788.3:c.1160T>C, NM_001163788.2:c.1160T>C, XM_011519265.2:c.1271T>C, XM_011519265.1:c.1271T>C, NM_001163790.2:c.1253T>C, NM_001244896.2:c.959T>C, NM_001244896.1:c.959T>C, NM_001244897.2:c.1160T>C, NM_001244897.1:c.1160T>C, XM_047424271.1:c.1160T>C, XM_047424272.1:c.1160T>C, XM_047424273.1:c.959T>C, XM_047424274.1:c.944T>C, XM_047424267.1:c.1262T>C, XM_047424268.1:c.1253T>C, NM_001244898.1:c.1262T>C, XM_047424270.1:c.1250T>C, XM_047424265.1:c.1307T>C, XM_047424266.1:c.1298T>C, NM_001375918.1:c.1151T>C, NM_001375920.1:c.944T>C, NP_005147.3:p.Leu415Pro, NP_001157260.1:p.Leu387Pro, XP_011517567.1:p.Leu424Pro, NP_001157262.1:p.Leu418Pro, NP_001231825.1:p.Leu320Pro, NP_001231826.1:p.Leu387Pro, XP_047280227.1:p.Leu387Pro, XP_047280228.1:p.Leu387Pro, XP_047280229.1:p.Leu320Pro, XP_047280230.1:p.Leu315Pro, XP_047280223.1:p.Leu421Pro, XP_047280224.1:p.Leu418Pro, NP_001231827.1:p.Leu421Pro, XP_047280226.1:p.Leu417Pro, XP_047280221.1:p.Leu436Pro, XP_047280222.1:p.Leu433Pro, NP_001362847.1:p.Leu384Pro, NP_001362849.1:p.Leu315Pro

                        12.

                        rs1474349861 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          9:112275996 (GRCh38)
                          9:115038276 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:112275995:T:G
                          Gene:
                          PTBP3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000009.12:g.112275996T>G, NC_000009.11:g.115038276T>G, NM_005156.7:c.136A>C, NM_005156.6:c.136A>C, NM_001163788.4:c.52A>C, NM_001163788.3:c.52A>C, NM_001163788.2:c.52A>C, XM_011519265.2:c.163A>C, XM_011519265.1:c.163A>C, NM_001163790.2:c.145A>C, NM_001244897.2:c.52A>C, NM_001244897.1:c.52A>C, XM_047424271.1:c.52A>C, XM_047424272.1:c.52A>C, XM_047424267.1:c.154A>C, XM_047424268.1:c.145A>C, NM_001244898.1:c.154A>C, XM_047424270.1:c.142A>C, XM_047424265.1:c.199A>C, XM_047424266.1:c.190A>C, NM_001375918.1:c.43A>C, NP_005147.3:p.Lys46Gln, NP_001157260.1:p.Lys18Gln, XP_011517567.1:p.Lys55Gln, NP_001157262.1:p.Lys49Gln, NP_001231826.1:p.Lys18Gln, XP_047280227.1:p.Lys18Gln, XP_047280228.1:p.Lys18Gln, XP_047280223.1:p.Lys52Gln, XP_047280224.1:p.Lys49Gln, NP_001231827.1:p.Lys52Gln, XP_047280226.1:p.Lys48Gln, XP_047280221.1:p.Lys67Gln, XP_047280222.1:p.Lys64Gln, NP_001362847.1:p.Lys15Gln

                          13.

                          rs1472225881 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            9:112224179 (GRCh38)
                            9:114986459 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:112224178:G:T
                            Gene:
                            PTBP3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000005/1 (GnomAD_exomes)
                            T=0.000015/4 (TOPMED)
                            HGVS:
                            NC_000009.12:g.112224179G>T, NC_000009.11:g.114986459G>T, NM_005156.7:c.1480C>A, NM_005156.6:c.1480C>A, NM_001163788.4:c.1396C>A, NM_001163788.3:c.1396C>A, NM_001163788.2:c.1396C>A, XM_011519265.2:c.1507C>A, XM_011519265.1:c.1507C>A, NM_001163790.2:c.1489C>A, NM_001244896.2:c.1195C>A, NM_001244896.1:c.1195C>A, NM_001244897.2:c.1396C>A, NM_001244897.1:c.1396C>A, XM_047424271.1:c.1396C>A, XM_047424272.1:c.1396C>A, XM_047424273.1:c.1195C>A, XM_047424274.1:c.1180C>A, XM_047424267.1:c.1498C>A, XM_047424268.1:c.1489C>A, NM_001244898.1:c.1498C>A, XM_047424270.1:c.1486C>A, XM_047424265.1:c.1543C>A, XM_047424266.1:c.1534C>A, NM_001375918.1:c.1387C>A, NM_001375920.1:c.1180C>A, NP_005147.3:p.Leu494Ile, NP_001157260.1:p.Leu466Ile, XP_011517567.1:p.Leu503Ile, NP_001157262.1:p.Leu497Ile, NP_001231825.1:p.Leu399Ile, NP_001231826.1:p.Leu466Ile, XP_047280227.1:p.Leu466Ile, XP_047280228.1:p.Leu466Ile, XP_047280229.1:p.Leu399Ile, XP_047280230.1:p.Leu394Ile, XP_047280223.1:p.Leu500Ile, XP_047280224.1:p.Leu497Ile, NP_001231827.1:p.Leu500Ile, XP_047280226.1:p.Leu496Ile, XP_047280221.1:p.Leu515Ile, XP_047280222.1:p.Leu512Ile, NP_001362847.1:p.Leu463Ile, NP_001362849.1:p.Leu394Ile

                            14.

                            rs1470407790 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              9:112223863 (GRCh38)
                              9:114986143 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:112223862:T:C,NC_000009.12:112223862:T:G
                              Gene:
                              PTBP3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,intron_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.00005/1 (ALFA)
                              HGVS:
                              NC_000009.12:g.112223863T>C, NC_000009.12:g.112223863T>G, NC_000009.11:g.114986143T>C, NC_000009.11:g.114986143T>G, NM_005156.7:c.1647A>G, NM_005156.7:c.1647A>C, NM_005156.6:c.1647A>G, NM_005156.6:c.1647A>C, NM_001163788.4:c.1563A>G, NM_001163788.4:c.1563A>C, NM_001163788.3:c.1563A>G, NM_001163788.3:c.1563A>C, NM_001163788.2:c.1563A>G, NM_001163788.2:c.1563A>C, XM_011519265.2:c.1674A>G, XM_011519265.2:c.1674A>C, XM_011519265.1:c.1674A>G, XM_011519265.1:c.1674A>C, NM_001163790.2:c.1656A>G, NM_001163790.2:c.1656A>C, NM_001244896.2:c.1362A>G, NM_001244896.2:c.1362A>C, NM_001244896.1:c.1362A>G, NM_001244896.1:c.1362A>C, XM_047424271.1:c.1563A>G, XM_047424271.1:c.1563A>C, XM_047424272.1:c.1563A>G, XM_047424272.1:c.1563A>C, XM_047424273.1:c.1362A>G, XM_047424273.1:c.1362A>C, XM_047424274.1:c.1347A>G, XM_047424274.1:c.1347A>C, XM_047424267.1:c.1665A>G, XM_047424267.1:c.1665A>C, XM_047424268.1:c.1656A>G, XM_047424268.1:c.1656A>C, NM_001244898.1:c.1665A>G, NM_001244898.1:c.1665A>C, XM_047424270.1:c.1653A>G, XM_047424270.1:c.1653A>C, XM_047424265.1:c.1710A>G, XM_047424265.1:c.1710A>C, XM_047424266.1:c.1701A>G, XM_047424266.1:c.1701A>C, NM_001375918.1:c.1554A>G, NM_001375918.1:c.1554A>C, NM_001375920.1:c.1347A>G, NM_001375920.1:c.1347A>C, NP_005147.3:p.Lys549Asn, NP_001157260.1:p.Lys521Asn, XP_011517567.1:p.Lys558Asn, NP_001157262.1:p.Lys552Asn, NP_001231825.1:p.Lys454Asn, XP_047280227.1:p.Lys521Asn, XP_047280228.1:p.Lys521Asn, XP_047280229.1:p.Lys454Asn, XP_047280230.1:p.Lys449Asn, XP_047280223.1:p.Lys555Asn, XP_047280224.1:p.Lys552Asn, NP_001231827.1:p.Lys555Asn, XP_047280226.1:p.Lys551Asn, XP_047280221.1:p.Lys570Asn, XP_047280222.1:p.Lys567Asn, NP_001362847.1:p.Lys518Asn, NP_001362849.1:p.Lys449Asn

                              15.

                              rs1466360081 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                9:112234883 (GRCh38)
                                9:114997163 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:112234882:T:C
                                Gene:
                                PTBP3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.112234883T>C, NC_000009.11:g.114997163T>C, NM_005156.7:c.901A>G, NM_005156.6:c.901A>G, NM_001163788.4:c.817A>G, NM_001163788.3:c.817A>G, NM_001163788.2:c.817A>G, XM_011519265.2:c.928A>G, XM_011519265.1:c.928A>G, NM_001163790.2:c.910A>G, NM_001244896.2:c.616A>G, NM_001244896.1:c.616A>G, NM_001244897.2:c.817A>G, NM_001244897.1:c.817A>G, XM_047424271.1:c.817A>G, XM_047424272.1:c.817A>G, XM_047424273.1:c.616A>G, XM_047424274.1:c.601A>G, XM_047424267.1:c.919A>G, XM_047424268.1:c.910A>G, NM_001244898.1:c.919A>G, XM_047424270.1:c.907A>G, XM_047424265.1:c.964A>G, XM_047424266.1:c.955A>G, NM_001375918.1:c.808A>G, NM_001375920.1:c.601A>G, NP_005147.3:p.Ile301Val, NP_001157260.1:p.Ile273Val, XP_011517567.1:p.Ile310Val, NP_001157262.1:p.Ile304Val, NP_001231825.1:p.Ile206Val, NP_001231826.1:p.Ile273Val, XP_047280227.1:p.Ile273Val, XP_047280228.1:p.Ile273Val, XP_047280229.1:p.Ile206Val, XP_047280230.1:p.Ile201Val, XP_047280223.1:p.Ile307Val, XP_047280224.1:p.Ile304Val, NP_001231827.1:p.Ile307Val, XP_047280226.1:p.Ile303Val, XP_047280221.1:p.Ile322Val, XP_047280222.1:p.Ile319Val, NP_001362847.1:p.Ile270Val, NP_001362849.1:p.Ile201Val

                                16.

                                rs1466076307 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CAACA>- [Show Flanks]
                                  Chromosome:
                                  9:112275859 (GRCh38)
                                  9:115038139 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:112275858:CAACA:
                                  Gene:
                                  PTBP3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant,intron_variant
                                  HGVS:
                                  NC_000009.12:g.112275859_112275863del, NC_000009.11:g.115038139_115038143del, NM_005156.7:c.269_273del, NM_005156.6:c.269_273del, NM_001163788.4:c.185_189del, NM_001163788.3:c.185_189del, NM_001163788.2:c.185_189del, XM_011519265.2:c.296_300del, XM_011519265.1:c.296_300del, NM_001163790.2:c.278_282del, NM_001244897.2:c.185_189del, NM_001244897.1:c.185_189del, XM_047424271.1:c.185_189del, XM_047424272.1:c.185_189del, XM_047424267.1:c.287_291del, XM_047424268.1:c.278_282del, NM_001244898.1:c.287_291del, XM_047424270.1:c.275_279del, XM_047424265.1:c.332_336del, XM_047424266.1:c.323_327del, NM_001375918.1:c.176_180del, NP_005147.3:p.Met90fs, NP_001157260.1:p.Met62fs, XP_011517567.1:p.Met99fs, NP_001157262.1:p.Met93fs, NP_001231826.1:p.Met62fs, XP_047280227.1:p.Met62fs, XP_047280228.1:p.Met62fs, XP_047280223.1:p.Met96fs, XP_047280224.1:p.Met93fs, NP_001231827.1:p.Met96fs, XP_047280226.1:p.Met92fs, XP_047280221.1:p.Met111fs, XP_047280222.1:p.Met108fs, NP_001362847.1:p.Met59fs

                                  17.

                                  rs1463327814 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    9:112227623 (GRCh38)
                                    9:114989903 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:112227622:C:A
                                    Gene:
                                    PTBP3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    HGVS:
                                    NC_000009.12:g.112227623C>A, NC_000009.11:g.114989903C>A, NM_005156.7:c.1236G>T, NM_005156.6:c.1236G>T, NM_001163788.4:c.1152G>T, NM_001163788.3:c.1152G>T, NM_001163788.2:c.1152G>T, XM_011519265.2:c.1263G>T, XM_011519265.1:c.1263G>T, NM_001163790.2:c.1245G>T, NM_001244896.2:c.951G>T, NM_001244896.1:c.951G>T, NM_001244897.2:c.1152G>T, NM_001244897.1:c.1152G>T, XM_047424271.1:c.1152G>T, XM_047424272.1:c.1152G>T, XM_047424273.1:c.951G>T, XM_047424274.1:c.936G>T, XM_047424267.1:c.1254G>T, XM_047424268.1:c.1245G>T, NM_001244898.1:c.1254G>T, XM_047424270.1:c.1242G>T, XM_047424265.1:c.1299G>T, XM_047424266.1:c.1290G>T, NM_001375918.1:c.1143G>T, NM_001375920.1:c.936G>T, NP_005147.3:p.Met412Ile, NP_001157260.1:p.Met384Ile, XP_011517567.1:p.Met421Ile, NP_001157262.1:p.Met415Ile, NP_001231825.1:p.Met317Ile, NP_001231826.1:p.Met384Ile, XP_047280227.1:p.Met384Ile, XP_047280228.1:p.Met384Ile, XP_047280229.1:p.Met317Ile, XP_047280230.1:p.Met312Ile, XP_047280223.1:p.Met418Ile, XP_047280224.1:p.Met415Ile, NP_001231827.1:p.Met418Ile, XP_047280226.1:p.Met414Ile, XP_047280221.1:p.Met433Ile, XP_047280222.1:p.Met430Ile, NP_001362847.1:p.Met381Ile, NP_001362849.1:p.Met312Ile

                                    18.

                                    rs1462028643 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      9:112234855 (GRCh38)
                                      9:114997135 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:112234854:C:T
                                      Gene:
                                      PTBP3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.00005/1 (ALFA)
                                      HGVS:
                                      NC_000009.12:g.112234855C>T, NC_000009.11:g.114997135C>T, NM_005156.7:c.929G>A, NM_005156.6:c.929G>A, NM_001163788.4:c.845G>A, NM_001163788.3:c.845G>A, NM_001163788.2:c.845G>A, XM_011519265.2:c.956G>A, XM_011519265.1:c.956G>A, NM_001163790.2:c.938G>A, NM_001244896.2:c.644G>A, NM_001244896.1:c.644G>A, NM_001244897.2:c.845G>A, NM_001244897.1:c.845G>A, XM_047424271.1:c.845G>A, XM_047424272.1:c.845G>A, XM_047424273.1:c.644G>A, XM_047424274.1:c.629G>A, XM_047424267.1:c.947G>A, XM_047424268.1:c.938G>A, NM_001244898.1:c.947G>A, XM_047424270.1:c.935G>A, XM_047424265.1:c.992G>A, XM_047424266.1:c.983G>A, NM_001375918.1:c.836G>A, NM_001375920.1:c.629G>A, NP_005147.3:p.Gly310Glu, NP_001157260.1:p.Gly282Glu, XP_011517567.1:p.Gly319Glu, NP_001157262.1:p.Gly313Glu, NP_001231825.1:p.Gly215Glu, NP_001231826.1:p.Gly282Glu, XP_047280227.1:p.Gly282Glu, XP_047280228.1:p.Gly282Glu, XP_047280229.1:p.Gly215Glu, XP_047280230.1:p.Gly210Glu, XP_047280223.1:p.Gly316Glu, XP_047280224.1:p.Gly313Glu, NP_001231827.1:p.Gly316Glu, XP_047280226.1:p.Gly312Glu, XP_047280221.1:p.Gly331Glu, XP_047280222.1:p.Gly328Glu, NP_001362847.1:p.Gly279Glu, NP_001362849.1:p.Gly210Glu

                                      19.

                                      rs1461478188 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        9:112251097 (GRCh38)
                                        9:115013377 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:112251096:C:G,NC_000009.12:112251096:C:T
                                        Gene:
                                        PTBP3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000009.12:g.112251097C>G, NC_000009.12:g.112251097C>T, NC_000009.11:g.115013377C>G, NC_000009.11:g.115013377C>T, NM_005156.7:c.718G>C, NM_005156.7:c.718G>A, NM_005156.6:c.718G>C, NM_005156.6:c.718G>A, NM_001163788.4:c.634G>C, NM_001163788.4:c.634G>A, NM_001163788.3:c.634G>C, NM_001163788.3:c.634G>A, NM_001163788.2:c.634G>C, NM_001163788.2:c.634G>A, XM_011519265.2:c.745G>C, XM_011519265.2:c.745G>A, XM_011519265.1:c.745G>C, XM_011519265.1:c.745G>A, NM_001163790.2:c.727G>C, NM_001163790.2:c.727G>A, NM_001244896.2:c.433G>C, NM_001244896.2:c.433G>A, NM_001244896.1:c.433G>C, NM_001244896.1:c.433G>A, NM_001244897.2:c.634G>C, NM_001244897.2:c.634G>A, NM_001244897.1:c.634G>C, NM_001244897.1:c.634G>A, XM_047424271.1:c.634G>C, XM_047424271.1:c.634G>A, XM_047424272.1:c.634G>C, XM_047424272.1:c.634G>A, XM_047424273.1:c.433G>C, XM_047424273.1:c.433G>A, XM_047424274.1:c.418G>C, XM_047424274.1:c.418G>A, XM_047424267.1:c.736G>C, XM_047424267.1:c.736G>A, XM_047424268.1:c.727G>C, XM_047424268.1:c.727G>A, NM_001244898.1:c.736G>C, NM_001244898.1:c.736G>A, XM_047424270.1:c.724G>C, XM_047424270.1:c.724G>A, XM_047424265.1:c.781G>C, XM_047424265.1:c.781G>A, XM_047424266.1:c.772G>C, XM_047424266.1:c.772G>A, NM_001375918.1:c.625G>C, NM_001375918.1:c.625G>A, NM_001375920.1:c.418G>C, NM_001375920.1:c.418G>A, NP_005147.3:p.Asp240His, NP_005147.3:p.Asp240Asn, NP_001157260.1:p.Asp212His, NP_001157260.1:p.Asp212Asn, XP_011517567.1:p.Asp249His, XP_011517567.1:p.Asp249Asn, NP_001157262.1:p.Asp243His, NP_001157262.1:p.Asp243Asn, NP_001231825.1:p.Asp145His, NP_001231825.1:p.Asp145Asn, NP_001231826.1:p.Asp212His, NP_001231826.1:p.Asp212Asn, XP_047280227.1:p.Asp212His, XP_047280227.1:p.Asp212Asn, XP_047280228.1:p.Asp212His, XP_047280228.1:p.Asp212Asn, XP_047280229.1:p.Asp145His, XP_047280229.1:p.Asp145Asn, XP_047280230.1:p.Asp140His, XP_047280230.1:p.Asp140Asn, XP_047280223.1:p.Asp246His, XP_047280223.1:p.Asp246Asn, XP_047280224.1:p.Asp243His, XP_047280224.1:p.Asp243Asn, NP_001231827.1:p.Asp246His, NP_001231827.1:p.Asp246Asn, XP_047280226.1:p.Asp242His, XP_047280226.1:p.Asp242Asn, XP_047280221.1:p.Asp261His, XP_047280221.1:p.Asp261Asn, XP_047280222.1:p.Asp258His, XP_047280222.1:p.Asp258Asn, NP_001362847.1:p.Asp209His, NP_001362847.1:p.Asp209Asn, NP_001362849.1:p.Asp140His, NP_001362849.1:p.Asp140Asn

                                        20.

                                        rs1460517229 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->T [Show Flanks]
                                          Chromosome:
                                          9:112224199 (GRCh38)
                                          9:114986480 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:112224199:T:TT
                                          Gene:
                                          PTBP3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,frameshift_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          TT=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.112224200dup, NC_000009.11:g.114986480dup, NM_005156.7:c.1459dup, NM_005156.6:c.1459dup, NM_001163788.4:c.1375dup, NM_001163788.3:c.1375dup, NM_001163788.2:c.1375dup, XM_011519265.2:c.1486dup, XM_011519265.1:c.1486dup, NM_001163790.2:c.1468dup, NM_001244896.2:c.1174dup, NM_001244896.1:c.1174dup, NM_001244897.2:c.1375dup, NM_001244897.1:c.1375dup, XM_047424271.1:c.1375dup, XM_047424272.1:c.1375dup, XM_047424273.1:c.1174dup, XM_047424274.1:c.1159dup, XM_047424267.1:c.1477dup, XM_047424268.1:c.1468dup, NM_001244898.1:c.1477dup, XM_047424270.1:c.1465dup, XM_047424265.1:c.1522dup, XM_047424266.1:c.1513dup, NM_001375918.1:c.1366dup, NM_001375920.1:c.1159dup, NP_005147.3:p.Thr487fs, NP_001157260.1:p.Thr459fs, XP_011517567.1:p.Thr496fs, NP_001157262.1:p.Thr490fs, NP_001231825.1:p.Thr392fs, NP_001231826.1:p.Thr459fs, XP_047280227.1:p.Thr459fs, XP_047280228.1:p.Thr459fs, XP_047280229.1:p.Thr392fs, XP_047280230.1:p.Thr387fs, XP_047280223.1:p.Thr493fs, XP_047280224.1:p.Thr490fs, NP_001231827.1:p.Thr493fs, XP_047280226.1:p.Thr489fs, XP_047280221.1:p.Thr508fs, XP_047280222.1:p.Thr505fs, NP_001362847.1:p.Thr456fs, NP_001362849.1:p.Thr387fs

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