U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 608

1.

rs1488341541 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    17:48789932 (GRCh38)
    17:46867294 (GRCh37)
    Canonical SPDI:
    NC_000017.11:48789931:T:A
    Gene:
    TTLL6 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000017.11:g.48789932T>A, NC_000017.10:g.46867294T>A, NM_173623.4:c.478A>T, NM_173623.3:c.478A>T, NM_001130918.3:c.1399A>T, NM_001130918.2:c.1399A>T, NM_001130918.1:c.1399A>T, XM_017024493.3:c.940A>T, XM_017024493.2:c.940A>T, XM_017024493.1:c.940A>T, XM_017024491.3:c.1396A>T, XM_017024491.2:c.1396A>T, XM_017024491.1:c.1396A>T, XM_017024495.3:c.658A>T, XM_017024495.2:c.658A>T, XM_017024495.1:c.658A>T, NM_001366314.2:c.940A>T, NM_001366314.1:c.940A>T, XM_017024492.2:c.940A>T, XM_017024492.1:c.940A>T, XM_047435803.1:c.940A>T, XM_047435804.1:c.940A>T, XM_047435805.1:c.475A>T, NP_775894.2:p.Arg160Trp, NP_001124390.1:p.Arg467Trp, XP_016879982.1:p.Arg314Trp, XP_016879980.1:p.Arg466Trp, XP_016879984.1:p.Arg220Trp, NP_001353243.1:p.Arg314Trp, XP_016879981.1:p.Arg314Trp, XP_047291759.1:p.Arg314Trp, XP_047291760.1:p.Arg314Trp, XP_047291761.1:p.Arg159Trp

    2.

    rs1487408551 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:48786331 (GRCh38)
      17:46863693 (GRCh37)
      Canonical SPDI:
      NC_000017.11:48786330:G:A
      Gene:
      TTLL6 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000012/3 (GnomAD_exomes)
      HGVS:

      3.

      rs1487276248 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:48769767 (GRCh38)
        17:46847129 (GRCh37)
        Canonical SPDI:
        NC_000017.11:48769766:C:T
        Gene:
        TTLL6 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1486185683 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          17:48786171 (GRCh38)
          17:46863533 (GRCh37)
          Canonical SPDI:
          NC_000017.11:48786170:G:T
          Gene:
          TTLL6 (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)
          T=0.000015/4 (TOPMED)
          HGVS:
          NC_000017.11:g.48786171G>T, NC_000017.10:g.46863533G>T, NM_173623.4:c.833C>A, NM_173623.3:c.833C>A, NM_001130918.3:c.1754C>A, NM_001130918.2:c.1754C>A, NM_001130918.1:c.1754C>A, XM_017024493.3:c.1295C>A, XM_017024493.2:c.1295C>A, XM_017024493.1:c.1295C>A, XM_017024491.3:c.1751C>A, XM_017024491.2:c.1751C>A, XM_017024491.1:c.1751C>A, XM_017024495.3:c.1013C>A, XM_017024495.2:c.1013C>A, XM_017024495.1:c.1013C>A, NM_001366314.2:c.1295C>A, NM_001366314.1:c.1295C>A, XM_017024492.2:c.1295C>A, XM_017024492.1:c.1295C>A, XM_047435803.1:c.1295C>A, XM_047435804.1:c.1295C>A, XM_047435805.1:c.830C>A, NP_775894.2:p.Ser278Tyr, NP_001124390.1:p.Ser585Tyr, XP_016879982.1:p.Ser432Tyr, XP_016879980.1:p.Ser584Tyr, XP_016879984.1:p.Ser338Tyr, NP_001353243.1:p.Ser432Tyr, XP_016879981.1:p.Ser432Tyr, XP_047291759.1:p.Ser432Tyr, XP_047291760.1:p.Ser432Tyr, XP_047291761.1:p.Ser277Tyr

          5.

          rs1483002627 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            17:48769905 (GRCh38)
            17:46847267 (GRCh37)
            Canonical SPDI:
            NC_000017.11:48769904:G:T
            Gene:
            TTLL6 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,intron_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1481687582 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:48789946 (GRCh38)
              17:46867308 (GRCh37)
              Canonical SPDI:
              NC_000017.11:48789945:C:T
              Gene:
              TTLL6 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000023/6 (TOPMED)
              T=0.000036/5 (GnomAD)
              HGVS:
              NC_000017.11:g.48789946C>T, NC_000017.10:g.46867308C>T, NM_173623.4:c.464G>A, NM_173623.3:c.464G>A, NM_001130918.3:c.1385G>A, NM_001130918.2:c.1385G>A, NM_001130918.1:c.1385G>A, XM_017024493.3:c.926G>A, XM_017024493.2:c.926G>A, XM_017024493.1:c.926G>A, XM_017024491.3:c.1382G>A, XM_017024491.2:c.1382G>A, XM_017024491.1:c.1382G>A, XM_017024495.3:c.644G>A, XM_017024495.2:c.644G>A, XM_017024495.1:c.644G>A, NM_001366314.2:c.926G>A, NM_001366314.1:c.926G>A, XM_017024492.2:c.926G>A, XM_017024492.1:c.926G>A, XM_047435803.1:c.926G>A, XM_047435804.1:c.926G>A, XM_047435805.1:c.461G>A, NP_775894.2:p.Cys155Tyr, NP_001124390.1:p.Cys462Tyr, XP_016879982.1:p.Cys309Tyr, XP_016879980.1:p.Cys461Tyr, XP_016879984.1:p.Cys215Tyr, NP_001353243.1:p.Cys309Tyr, XP_016879981.1:p.Cys309Tyr, XP_047291759.1:p.Cys309Tyr, XP_047291760.1:p.Cys309Tyr, XP_047291761.1:p.Cys154Tyr

              7.

              rs1480791369 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GGT>- [Show Flanks]
                Chromosome:
                17:48791476 (GRCh38)
                17:46868838 (GRCh37)
                Canonical SPDI:
                NC_000017.11:48791473:GTGGT:GT
                Gene:
                TTLL6 (Varview)
                Functional Consequence:
                inframe_deletion,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                GT=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                NC_000017.11:g.48791476_48791478del, NC_000017.10:g.46868838_46868840del, NM_173623.4:c.205_207del, NM_173623.3:c.205_207del, NM_001130918.3:c.1126_1128del, NM_001130918.2:c.1126_1128del, NM_001130918.1:c.1126_1128del, XM_017024493.3:c.667_669del, XM_017024493.2:c.667_669del, XM_017024493.1:c.667_669del, XM_017024491.3:c.1123_1125del, XM_017024491.2:c.1123_1125del, XM_017024491.1:c.1123_1125del, XM_017024495.3:c.385_387del, XM_017024495.2:c.385_387del, XM_017024495.1:c.385_387del, NM_001366314.2:c.667_669del, NM_001366314.1:c.667_669del, XM_017024492.2:c.667_669del, XM_017024492.1:c.667_669del, XM_047435803.1:c.667_669del, XM_047435804.1:c.667_669del, XM_047435805.1:c.202_204del, NP_775894.2:p.His69del, NP_001124390.1:p.His376del, XP_016879982.1:p.His223del, XP_016879980.1:p.His375del, XP_016879984.1:p.His129del, NP_001353243.1:p.His223del, XP_016879981.1:p.His223del, XP_047291759.1:p.His223del, XP_047291760.1:p.His223del, XP_047291761.1:p.His68del

                8.

                rs1477920677 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:48785046 (GRCh38)
                  17:46862408 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:48785045:G:A
                  Gene:
                  TTLL6 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1477394593 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:48785103 (GRCh38)
                    17:46862465 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:48785102:C:T
                    Gene:
                    TTLL6 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000008/2 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1477076099 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      17:48786267 (GRCh38)
                      17:46863629 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:48786266:A:G
                      Gene:
                      TTLL6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.48786267A>G, NC_000017.10:g.46863629A>G, NM_173623.4:c.737T>C, NM_173623.3:c.737T>C, NM_001130918.3:c.1658T>C, NM_001130918.2:c.1658T>C, NM_001130918.1:c.1658T>C, XM_017024493.3:c.1199T>C, XM_017024493.2:c.1199T>C, XM_017024493.1:c.1199T>C, XM_017024491.3:c.1655T>C, XM_017024491.2:c.1655T>C, XM_017024491.1:c.1655T>C, XM_017024495.3:c.917T>C, XM_017024495.2:c.917T>C, XM_017024495.1:c.917T>C, NM_001366314.2:c.1199T>C, NM_001366314.1:c.1199T>C, XM_017024492.2:c.1199T>C, XM_017024492.1:c.1199T>C, XM_047435803.1:c.1199T>C, XM_047435804.1:c.1199T>C, XM_047435805.1:c.734T>C, NP_775894.2:p.Met246Thr, NP_001124390.1:p.Met553Thr, XP_016879982.1:p.Met400Thr, XP_016879980.1:p.Met552Thr, XP_016879984.1:p.Met306Thr, NP_001353243.1:p.Met400Thr, XP_016879981.1:p.Met400Thr, XP_047291759.1:p.Met400Thr, XP_047291760.1:p.Met400Thr, XP_047291761.1:p.Met245Thr

                      11.

                      rs1476934484 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:48769931 (GRCh38)
                        17:46847293 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:48769930:G:A
                        Gene:
                        TTLL6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1475136406 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          17:48791583 (GRCh38)
                          17:46868945 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:48791582:G:C
                          Gene:
                          TTLL6 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.48791583G>C, NC_000017.10:g.46868945G>C, NM_173623.4:c.98C>G, NM_173623.3:c.98C>G, NM_001130918.3:c.1019C>G, NM_001130918.2:c.1019C>G, NM_001130918.1:c.1019C>G, XM_017024493.3:c.560C>G, XM_017024493.2:c.560C>G, XM_017024493.1:c.560C>G, XM_017024491.3:c.1016C>G, XM_017024491.2:c.1016C>G, XM_017024491.1:c.1016C>G, XM_017024495.3:c.278C>G, XM_017024495.2:c.278C>G, XM_017024495.1:c.278C>G, NM_001366314.2:c.560C>G, NM_001366314.1:c.560C>G, XM_017024492.2:c.560C>G, XM_017024492.1:c.560C>G, XM_047435803.1:c.560C>G, XM_047435804.1:c.560C>G, XM_047435805.1:c.95C>G, NP_775894.2:p.Ala33Gly, NP_001124390.1:p.Ala340Gly, XP_016879982.1:p.Ala187Gly, XP_016879980.1:p.Ala339Gly, XP_016879984.1:p.Ala93Gly, NP_001353243.1:p.Ala187Gly, XP_016879981.1:p.Ala187Gly, XP_047291759.1:p.Ala187Gly, XP_047291760.1:p.Ala187Gly, XP_047291761.1:p.Ala32Gly

                          13.

                          rs1475111466 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            17:48789996 (GRCh38)
                            17:46867359 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:48789996:TT:TTT
                            Gene:
                            TTLL6 (Varview)
                            Functional Consequence:
                            frameshift_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.48789998dup, NC_000017.10:g.46867360dup, NM_173623.4:c.413dup, NM_173623.3:c.413dup, NM_001130918.3:c.1334dup, NM_001130918.2:c.1334dup, NM_001130918.1:c.1334dup, XM_017024493.3:c.875dup, XM_017024493.2:c.875dup, XM_017024493.1:c.875dup, XM_017024491.3:c.1331dup, XM_017024491.2:c.1331dup, XM_017024491.1:c.1331dup, XM_017024495.3:c.593dup, XM_017024495.2:c.593dup, XM_017024495.1:c.593dup, NM_001366314.2:c.875dup, NM_001366314.1:c.875dup, XM_017024492.2:c.875dup, XM_017024492.1:c.875dup, XM_047435803.1:c.875dup, XM_047435804.1:c.875dup, XM_047435805.1:c.410dup, NP_775894.2:p.Lys139fs, NP_001124390.1:p.Lys446fs, XP_016879982.1:p.Lys293fs, XP_016879980.1:p.Lys445fs, XP_016879984.1:p.Lys199fs, NP_001353243.1:p.Lys293fs, XP_016879981.1:p.Lys293fs, XP_047291759.1:p.Lys293fs, XP_047291760.1:p.Lys293fs, XP_047291761.1:p.Lys138fs

                            14.

                            rs1474979074 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              17:48786219 (GRCh38)
                              17:46863581 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:48786218:C:G
                              Gene:
                              TTLL6 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.48786219C>G, NC_000017.10:g.46863581C>G, NM_173623.4:c.785G>C, NM_173623.3:c.785G>C, NM_001130918.3:c.1706G>C, NM_001130918.2:c.1706G>C, NM_001130918.1:c.1706G>C, XM_017024493.3:c.1247G>C, XM_017024493.2:c.1247G>C, XM_017024493.1:c.1247G>C, XM_017024491.3:c.1703G>C, XM_017024491.2:c.1703G>C, XM_017024491.1:c.1703G>C, XM_017024495.3:c.965G>C, XM_017024495.2:c.965G>C, XM_017024495.1:c.965G>C, NM_001366314.2:c.1247G>C, NM_001366314.1:c.1247G>C, XM_017024492.2:c.1247G>C, XM_017024492.1:c.1247G>C, XM_047435803.1:c.1247G>C, XM_047435804.1:c.1247G>C, XM_047435805.1:c.782G>C, NP_775894.2:p.Gly262Ala, NP_001124390.1:p.Gly569Ala, XP_016879982.1:p.Gly416Ala, XP_016879980.1:p.Gly568Ala, XP_016879984.1:p.Gly322Ala, NP_001353243.1:p.Gly416Ala, XP_016879981.1:p.Gly416Ala, XP_047291759.1:p.Gly416Ala, XP_047291760.1:p.Gly416Ala, XP_047291761.1:p.Gly261Ala

                              15.

                              rs1471138389 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:48791580 (GRCh38)
                                17:46868942 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:48791579:T:C
                                Gene:
                                TTLL6 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000017.11:g.48791580T>C, NC_000017.10:g.46868942T>C, NM_173623.4:c.101A>G, NM_173623.3:c.101A>G, NM_001130918.3:c.1022A>G, NM_001130918.2:c.1022A>G, NM_001130918.1:c.1022A>G, XM_017024493.3:c.563A>G, XM_017024493.2:c.563A>G, XM_017024493.1:c.563A>G, XM_017024491.3:c.1019A>G, XM_017024491.2:c.1019A>G, XM_017024491.1:c.1019A>G, XM_017024495.3:c.281A>G, XM_017024495.2:c.281A>G, XM_017024495.1:c.281A>G, NM_001366314.2:c.563A>G, NM_001366314.1:c.563A>G, XM_017024492.2:c.563A>G, XM_017024492.1:c.563A>G, XM_047435803.1:c.563A>G, XM_047435804.1:c.563A>G, XM_047435805.1:c.98A>G, NP_775894.2:p.Tyr34Cys, NP_001124390.1:p.Tyr341Cys, XP_016879982.1:p.Tyr188Cys, XP_016879980.1:p.Tyr340Cys, XP_016879984.1:p.Tyr94Cys, NP_001353243.1:p.Tyr188Cys, XP_016879981.1:p.Tyr188Cys, XP_047291759.1:p.Tyr188Cys, XP_047291760.1:p.Tyr188Cys, XP_047291761.1:p.Tyr33Cys

                                16.

                                rs1469859193 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  17:48794260 (GRCh38)
                                  17:46871622 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:48794259:T:A
                                  Gene:
                                  TTLL6 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1469304213 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    17:48785001 (GRCh38)
                                    17:46862363 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:48785000:C:G,NC_000017.11:48785000:C:T
                                    Gene:
                                    TTLL6 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    T=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000017.11:g.48785001C>G, NC_000017.11:g.48785001C>T, NC_000017.10:g.46862363C>G, NC_000017.10:g.46862363C>T, NM_173623.4:c.1041G>C, NM_173623.4:c.1041G>A, NM_173623.3:c.1041G>C, NM_173623.3:c.1041G>A, NM_001130918.3:c.1962G>C, NM_001130918.3:c.1962G>A, NM_001130918.2:c.1962G>C, NM_001130918.2:c.1962G>A, NM_001130918.1:c.1962G>C, NM_001130918.1:c.1962G>A, XM_017024493.3:c.1503G>C, XM_017024493.3:c.1503G>A, XM_017024493.2:c.1503G>C, XM_017024493.2:c.1503G>A, XM_017024493.1:c.1503G>C, XM_017024493.1:c.1503G>A, XM_017024491.3:c.1959G>C, XM_017024491.3:c.1959G>A, XM_017024491.2:c.1959G>C, XM_017024491.2:c.1959G>A, XM_017024491.1:c.1959G>C, XM_017024491.1:c.1959G>A, XM_017024495.3:c.1221G>C, XM_017024495.3:c.1221G>A, XM_017024495.2:c.1221G>C, XM_017024495.2:c.1221G>A, XM_017024495.1:c.1221G>C, XM_017024495.1:c.1221G>A, NM_001366314.2:c.1503G>C, NM_001366314.2:c.1503G>A, NM_001366314.1:c.1503G>C, NM_001366314.1:c.1503G>A, XM_017024492.2:c.1503G>C, XM_017024492.2:c.1503G>A, XM_017024492.1:c.1503G>C, XM_017024492.1:c.1503G>A, XM_047435803.1:c.1503G>C, XM_047435803.1:c.1503G>A, XM_047435804.1:c.1503G>C, XM_047435804.1:c.1503G>A, XM_047435805.1:c.1038G>C, XM_047435805.1:c.1038G>A, NP_775894.2:p.Lys347Asn, NP_001124390.1:p.Lys654Asn, XP_016879982.1:p.Lys501Asn, XP_016879980.1:p.Lys653Asn, XP_016879984.1:p.Lys407Asn, NP_001353243.1:p.Lys501Asn, XP_016879981.1:p.Lys501Asn, XP_047291759.1:p.Lys501Asn, XP_047291760.1:p.Lys501Asn, XP_047291761.1:p.Lys346Asn

                                    18.

                                    rs1468221709 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      17:48791390 (GRCh38)
                                      17:46868752 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:48791389:G:T
                                      Gene:
                                      TTLL6 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000047/1 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1468069533 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:48784975 (GRCh38)
                                        17:46862337 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:48784974:C:T
                                        Gene:
                                        TTLL6 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000017.11:g.48784975C>T, NC_000017.10:g.46862337C>T, NM_173623.4:c.1067G>A, NM_173623.3:c.1067G>A, NM_001130918.3:c.1988G>A, NM_001130918.2:c.1988G>A, NM_001130918.1:c.1988G>A, XM_017024493.3:c.1529G>A, XM_017024493.2:c.1529G>A, XM_017024493.1:c.1529G>A, XM_017024491.3:c.1985G>A, XM_017024491.2:c.1985G>A, XM_017024491.1:c.1985G>A, XM_017024495.3:c.1247G>A, XM_017024495.2:c.1247G>A, XM_017024495.1:c.1247G>A, NM_001366314.2:c.1529G>A, NM_001366314.1:c.1529G>A, XM_017024492.2:c.1529G>A, XM_017024492.1:c.1529G>A, XM_047435803.1:c.1529G>A, XM_047435804.1:c.1529G>A, XM_047435805.1:c.1064G>A, NP_775894.2:p.Ser356Asn, NP_001124390.1:p.Ser663Asn, XP_016879982.1:p.Ser510Asn, XP_016879980.1:p.Ser662Asn, XP_016879984.1:p.Ser416Asn, NP_001353243.1:p.Ser510Asn, XP_016879981.1:p.Ser510Asn, XP_047291759.1:p.Ser510Asn, XP_047291760.1:p.Ser510Asn, XP_047291761.1:p.Ser355Asn

                                        20.

                                        rs1466613667 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:48769746 (GRCh38)
                                          17:46847108 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:48769745:C:T
                                          Gene:
                                          TTLL6 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...