| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178602425_178602428del | CA2580064781 | TTN,TTN-AS1 | c.47272_47275del (p.Asp15758AsnfsTer3) c.28357_28360del (p.Asp9453AsnfsTer3) c.28156_28159del (p.Asp9386AsnfsTer3) c.27781_27784del (p.Asp9261AsnfsTer3) c.54976_54979del (p.Asp18326AsnfsTer3) c.50053_50056del (p.Asp16685AsnfsTer3) n.682+4744_682+4747del n.3917+1758_3917+1761del c.54073_54076del (p.Asp18025AsnfsTer3) c.27967_27970del (p.Asp9323AsnfsTer3) c.27826_27829del (p.Asp9276AsnfsTer3) c.53869_53872del (p.Asp17957AsnfsTer3) c.49267_49270del (p.Asp16423AsnfsTer3) c.49264_49267del (p.Asp16422AsnfsTer3) c.46306_46309del (p.Asp15436AsnfsTer3) c.27922_27925del (p.Asp9308AsnfsTer3) c.49417_49420del (p.Asp16473AsnfsTer3) c.49414_49417del (p.Asp16472AsnfsTer3) c.48847_48850del (p.Asp16283AsnfsTer3) c.46189_46192del (p.Asp15397AsnfsTer3) c.46108_46111del (p.Asp15370AsnfsTer3) c.27871_27874del (p.Asp9291AsnfsTer3) c.17725_17728del (p.Asp5909AsnfsTer3) | ClinVar |
| 2 | g.178602428G>A | CA349546148 | TTN,TTN-AS1 | c.47270C>T (p.Pro15757Leu) c.28355C>T (p.Pro9452Leu) c.28154C>T (p.Pro9385Leu) c.27779C>T (p.Pro9260Leu) c.54974C>T (p.Pro18325Leu) c.50051C>T (p.Pro16684Leu) n.682+4747G>A n.3917+1761G>A c.54071C>T (p.Pro18024Leu) c.27965C>T (p.Pro9322Leu) c.27824C>T (p.Pro9275Leu) c.53867C>T (p.Pro17956Leu) c.49265C>T (p.Pro16422Leu) c.49262C>T (p.Pro16421Leu) c.46304C>T (p.Pro15435Leu) c.27920C>T (p.Pro9307Leu) c.49415C>T (p.Pro16472Leu) c.49412C>T (p.Pro16471Leu) c.48845C>T (p.Pro16282Leu) c.46187C>T (p.Pro15396Leu) c.46106C>T (p.Pro15369Leu) c.27869C>T (p.Pro9290Leu) c.17723C>T (p.Pro5908Leu) | |
| 2 | g.178602428G>C | CA60978488 | TTN,TTN-AS1 | c.47270C>G (p.Pro15757Arg) c.28355C>G (p.Pro9452Arg) c.28154C>G (p.Pro9385Arg) c.27779C>G (p.Pro9260Arg) c.54974C>G (p.Pro18325Arg) c.50051C>G (p.Pro16684Arg) n.682+4747G>C n.3917+1761G>C c.54071C>G (p.Pro18024Arg) c.27965C>G (p.Pro9322Arg) c.27824C>G (p.Pro9275Arg) c.53867C>G (p.Pro17956Arg) c.49265C>G (p.Pro16422Arg) c.49262C>G (p.Pro16421Arg) c.46304C>G (p.Pro15435Arg) c.27920C>G (p.Pro9307Arg) c.49415C>G (p.Pro16472Arg) c.49412C>G (p.Pro16471Arg) c.48845C>G (p.Pro16282Arg) c.46187C>G (p.Pro15396Arg) c.46106C>G (p.Pro15369Arg) c.27869C>G (p.Pro9290Arg) c.17723C>G (p.Pro5908Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178602428G= | CA1310544521 | TTN,TTN-AS1 | c.47270C= (p.Pro15757=) c.28355C= (p.Pro9452=) c.28154C= (p.Pro9385=) c.27779C= (p.Pro9260=) c.54974C= (p.Pro18325=) c.50051C= (p.Pro16684=) n.682+4747G= n.3917+1761G= c.54071C= (p.Pro18024=) c.27965C= (p.Pro9322=) c.27824C= (p.Pro9275=) c.53867C= (p.Pro17956=) c.49265C= (p.Pro16422=) c.49262C= (p.Pro16421=) c.46304C= (p.Pro15435=) c.27920C= (p.Pro9307=) c.49415C= (p.Pro16472=) c.49412C= (p.Pro16471=) c.48845C= (p.Pro16282=) c.46187C= (p.Pro15396=) c.46106C= (p.Pro15369=) c.27869C= (p.Pro9290=) c.17723C= (p.Pro5908=) | |
| 2 | g.178602428G>T | CA349546149 | TTN,TTN-AS1 | c.47270C>A (p.Pro15757Gln) c.28355C>A (p.Pro9452Gln) c.28154C>A (p.Pro9385Gln) c.27779C>A (p.Pro9260Gln) c.54974C>A (p.Pro18325Gln) c.50051C>A (p.Pro16684Gln) n.682+4747G>T n.3917+1761G>T c.54071C>A (p.Pro18024Gln) c.27965C>A (p.Pro9322Gln) c.27824C>A (p.Pro9275Gln) c.53867C>A (p.Pro17956Gln) c.49265C>A (p.Pro16422Gln) c.49262C>A (p.Pro16421Gln) c.46304C>A (p.Pro15435Gln) c.27920C>A (p.Pro9307Gln) c.49415C>A (p.Pro16472Gln) c.49412C>A (p.Pro16471Gln) c.48845C>A (p.Pro16282Gln) c.46187C>A (p.Pro15396Gln) c.46106C>A (p.Pro15369Gln) c.27869C>A (p.Pro9290Gln) c.17723C>A (p.Pro5908Gln) | |
| 2 | g.178602429G>A | CA349546152 | TTN,TTN-AS1 | c.47269C>T (p.Pro15757Ser) c.28354C>T (p.Pro9452Ser) c.28153C>T (p.Pro9385Ser) c.27778C>T (p.Pro9260Ser) c.54973C>T (p.Pro18325Ser) c.50050C>T (p.Pro16684Ser) n.682+4748G>A n.3917+1762G>A c.54070C>T (p.Pro18024Ser) c.27964C>T (p.Pro9322Ser) c.27823C>T (p.Pro9275Ser) c.53866C>T (p.Pro17956Ser) c.49264C>T (p.Pro16422Ser) c.49261C>T (p.Pro16421Ser) c.46303C>T (p.Pro15435Ser) c.27919C>T (p.Pro9307Ser) c.49414C>T (p.Pro16472Ser) c.49411C>T (p.Pro16471Ser) c.48844C>T (p.Pro16282Ser) c.46186C>T (p.Pro15396Ser) c.46105C>T (p.Pro15369Ser) c.27868C>T (p.Pro9290Ser) c.17722C>T (p.Pro5908Ser) | gnomAD v4 |
| 2 | g.178602429G>C | CA1993549 | TTN,TTN-AS1 | c.47269C>G (p.Pro15757Ala) c.28354C>G (p.Pro9452Ala) c.28153C>G (p.Pro9385Ala) c.27778C>G (p.Pro9260Ala) c.54973C>G (p.Pro18325Ala) c.50050C>G (p.Pro16684Ala) n.682+4748G>C n.3917+1762G>C c.54070C>G (p.Pro18024Ala) c.27964C>G (p.Pro9322Ala) c.27823C>G (p.Pro9275Ala) c.53866C>G (p.Pro17956Ala) c.49264C>G (p.Pro16422Ala) c.49261C>G (p.Pro16421Ala) c.46303C>G (p.Pro15435Ala) c.27919C>G (p.Pro9307Ala) c.49414C>G (p.Pro16472Ala) c.49411C>G (p.Pro16471Ala) c.48844C>G (p.Pro16282Ala) c.46186C>G (p.Pro15396Ala) c.46105C>G (p.Pro15369Ala) c.27868C>G (p.Pro9290Ala) c.17722C>G (p.Pro5908Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178602429G= | CA1310544522 | TTN,TTN-AS1 | c.47269C= (p.Pro15757=) c.28354C= (p.Pro9452=) c.28153C= (p.Pro9385=) c.27778C= (p.Pro9260=) c.54973C= (p.Pro18325=) c.50050C= (p.Pro16684=) n.682+4748G= n.3917+1762G= c.54070C= (p.Pro18024=) c.27964C= (p.Pro9322=) c.27823C= (p.Pro9275=) c.53866C= (p.Pro17956=) c.49264C= (p.Pro16422=) c.49261C= (p.Pro16421=) c.46303C= (p.Pro15435=) c.27919C= (p.Pro9307=) c.49414C= (p.Pro16472=) c.49411C= (p.Pro16471=) c.48844C= (p.Pro16282=) c.46186C= (p.Pro15396=) c.46105C= (p.Pro15369=) c.27868C= (p.Pro9290=) c.17722C= (p.Pro5908=) | |
| 2 | g.178602429G>T | CA349546158 | TTN,TTN-AS1 | c.47269C>A (p.Pro15757Thr) c.28354C>A (p.Pro9452Thr) c.28153C>A (p.Pro9385Thr) c.27778C>A (p.Pro9260Thr) c.54973C>A (p.Pro18325Thr) c.50050C>A (p.Pro16684Thr) n.682+4748G>T n.3917+1762G>T c.54070C>A (p.Pro18024Thr) c.27964C>A (p.Pro9322Thr) c.27823C>A (p.Pro9275Thr) c.53866C>A (p.Pro17956Thr) c.49264C>A (p.Pro16422Thr) c.49261C>A (p.Pro16421Thr) c.46303C>A (p.Pro15435Thr) c.27919C>A (p.Pro9307Thr) c.49414C>A (p.Pro16472Thr) c.49411C>A (p.Pro16471Thr) c.48844C>A (p.Pro16282Thr) c.46186C>A (p.Pro15396Thr) c.46105C>A (p.Pro15369Thr) c.27868C>A (p.Pro9290Thr) c.17722C>A (p.Pro5908Thr) | gnomAD v4 |
| 2 | g.178602430T>A | CA349546162 | TTN,TTN-AS1 | c.47268A>T (p.Glu15756Asp) c.28353A>T (p.Glu9451Asp) c.28152A>T (p.Glu9384Asp) c.27777A>T (p.Glu9259Asp) c.54972A>T (p.Glu18324Asp) c.50049A>T (p.Glu16683Asp) n.682+4749T>A n.3917+1763T>A c.54069A>T (p.Glu18023Asp) c.27963A>T (p.Glu9321Asp) c.27822A>T (p.Glu9274Asp) c.53865A>T (p.Glu17955Asp) c.49263A>T (p.Glu16421Asp) c.49260A>T (p.Glu16420Asp) c.46302A>T (p.Glu15434Asp) c.27918A>T (p.Glu9306Asp) c.49413A>T (p.Glu16471Asp) c.49410A>T (p.Glu16470Asp) c.48843A>T (p.Glu16281Asp) c.46185A>T (p.Glu15395Asp) c.46104A>T (p.Glu15368Asp) c.27867A>T (p.Glu9289Asp) c.17721A>T (p.Glu5907Asp) | |
| 2 | g.178602430T>C | CA430101524 | TTN,TTN-AS1 | c.47268A>G (p.Glu15756=) c.28353A>G (p.Glu9451=) c.28152A>G (p.Glu9384=) c.27777A>G (p.Glu9259=) c.54972A>G (p.Glu18324=) c.50049A>G (p.Glu16683=) n.682+4749T>C n.3917+1763T>C c.54069A>G (p.Glu18023=) c.27963A>G (p.Glu9321=) c.27822A>G (p.Glu9274=) c.53865A>G (p.Glu17955=) c.49263A>G (p.Glu16421=) c.49260A>G (p.Glu16420=) c.46302A>G (p.Glu15434=) c.27918A>G (p.Glu9306=) c.49413A>G (p.Glu16471=) c.49410A>G (p.Glu16470=) c.48843A>G (p.Glu16281=) c.46185A>G (p.Glu15395=) c.46104A>G (p.Glu15368=) c.27867A>G (p.Glu9289=) c.17721A>G (p.Glu5907=) | |
| 2 | g.178602430T>G | CA349546170 | TTN,TTN-AS1 | c.47268A>C (p.Glu15756Asp) c.28353A>C (p.Glu9451Asp) c.28152A>C (p.Glu9384Asp) c.27777A>C (p.Glu9259Asp) c.54972A>C (p.Glu18324Asp) c.50049A>C (p.Glu16683Asp) n.682+4749T>G n.3917+1763T>G c.54069A>C (p.Glu18023Asp) c.27963A>C (p.Glu9321Asp) c.27822A>C (p.Glu9274Asp) c.53865A>C (p.Glu17955Asp) c.49263A>C (p.Glu16421Asp) c.49260A>C (p.Glu16420Asp) c.46302A>C (p.Glu15434Asp) c.27918A>C (p.Glu9306Asp) c.49413A>C (p.Glu16471Asp) c.49410A>C (p.Glu16470Asp) c.48843A>C (p.Glu16281Asp) c.46185A>C (p.Glu15395Asp) c.46104A>C (p.Glu15368Asp) c.27867A>C (p.Glu9289Asp) c.17721A>C (p.Glu5907Asp) | |
| 2 | g.178602431_178602436del | CA2662133847 | TTN,TTN-AS1 | c.47263_47268del (p.Asn15755_Glu15756del) c.28348_28353del (p.Asn9450_Glu9451del) c.28147_28152del (p.Asn9383_Glu9384del) c.27772_27777del (p.Asn9258_Glu9259del) c.54967_54972del (p.Asn18323_Glu18324del) c.50044_50049del (p.Asn16682_Glu16683del) n.682+4750_682+4755del n.3917+1764_3917+1769del c.54064_54069del (p.Asn18022_Glu18023del) c.27958_27963del (p.Asn9320_Glu9321del) c.27817_27822del (p.Asn9273_Glu9274del) c.53860_53865del (p.Asn17954_Glu17955del) c.49258_49263del (p.Asn16420_Glu16421del) c.49255_49260del (p.Asn16419_Glu16420del) c.46297_46302del (p.Asn15433_Glu15434del) c.27913_27918del (p.Asn9305_Glu9306del) c.49408_49413del (p.Asn16470_Glu16471del) c.49405_49410del (p.Asn16469_Glu16470del) c.48838_48843del (p.Asn16280_Glu16281del) c.46180_46185del (p.Asn15394_Glu15395del) c.46099_46104del (p.Asn15367_Glu15368del) c.27862_27867del (p.Asn9288_Glu9289del) c.17716_17721del (p.Asn5906_Glu5907del) | dbSNP gnomAD v4 |
| 2 | g.178602431T>A | CA349546174 | TTN,TTN-AS1 | c.47267A>T (p.Glu15756Val) c.28352A>T (p.Glu9451Val) c.28151A>T (p.Glu9384Val) c.27776A>T (p.Glu9259Val) c.54971A>T (p.Glu18324Val) c.50048A>T (p.Glu16683Val) n.682+4750T>A n.3917+1764T>A c.54068A>T (p.Glu18023Val) c.27962A>T (p.Glu9321Val) c.27821A>T (p.Glu9274Val) c.53864A>T (p.Glu17955Val) c.49262A>T (p.Glu16421Val) c.49259A>T (p.Glu16420Val) c.46301A>T (p.Glu15434Val) c.27917A>T (p.Glu9306Val) c.49412A>T (p.Glu16471Val) c.49409A>T (p.Glu16470Val) c.48842A>T (p.Glu16281Val) c.46184A>T (p.Glu15395Val) c.46103A>T (p.Glu15368Val) c.27866A>T (p.Glu9289Val) c.17720A>T (p.Glu5907Val) | |
| 2 | g.178602431T>C | CA349546175 | TTN,TTN-AS1 | c.47267A>G (p.Glu15756Gly) c.28352A>G (p.Glu9451Gly) c.28151A>G (p.Glu9384Gly) c.27776A>G (p.Glu9259Gly) c.54971A>G (p.Glu18324Gly) c.50048A>G (p.Glu16683Gly) n.682+4750T>C n.3917+1764T>C c.54068A>G (p.Glu18023Gly) c.27962A>G (p.Glu9321Gly) c.27821A>G (p.Glu9274Gly) c.53864A>G (p.Glu17955Gly) c.49262A>G (p.Glu16421Gly) c.49259A>G (p.Glu16420Gly) c.46301A>G (p.Glu15434Gly) c.27917A>G (p.Glu9306Gly) c.49412A>G (p.Glu16471Gly) c.49409A>G (p.Glu16470Gly) c.48842A>G (p.Glu16281Gly) c.46184A>G (p.Glu15395Gly) c.46103A>G (p.Glu15368Gly) c.27866A>G (p.Glu9289Gly) c.17720A>G (p.Glu5907Gly) | |
| 2 | g.178602431T>G | CA349546178 | TTN,TTN-AS1 | c.47267A>C (p.Glu15756Ala) c.28352A>C (p.Glu9451Ala) c.28151A>C (p.Glu9384Ala) c.27776A>C (p.Glu9259Ala) c.54971A>C (p.Glu18324Ala) c.50048A>C (p.Glu16683Ala) n.682+4750T>G n.3917+1764T>G c.54068A>C (p.Glu18023Ala) c.27962A>C (p.Glu9321Ala) c.27821A>C (p.Glu9274Ala) c.53864A>C (p.Glu17955Ala) c.49262A>C (p.Glu16421Ala) c.49259A>C (p.Glu16420Ala) c.46301A>C (p.Glu15434Ala) c.27917A>C (p.Glu9306Ala) c.49412A>C (p.Glu16471Ala) c.49409A>C (p.Glu16470Ala) c.48842A>C (p.Glu16281Ala) c.46184A>C (p.Glu15395Ala) c.46103A>C (p.Glu15368Ala) c.27866A>C (p.Glu9289Ala) c.17720A>C (p.Glu5907Ala) | |
| 2 | g.178602432C>A | CA349546181 | TTN,TTN-AS1 | c.47266G>T (p.Glu15756Ter) c.28351G>T (p.Glu9451Ter) c.28150G>T (p.Glu9384Ter) c.27775G>T (p.Glu9259Ter) c.54970G>T (p.Glu18324Ter) c.50047G>T (p.Glu16683Ter) n.682+4751C>A n.3917+1765C>A c.54067G>T (p.Glu18023Ter) c.27961G>T (p.Glu9321Ter) c.27820G>T (p.Glu9274Ter) c.53863G>T (p.Glu17955Ter) c.49261G>T (p.Glu16421Ter) c.49258G>T (p.Glu16420Ter) c.46300G>T (p.Glu15434Ter) c.27916G>T (p.Glu9306Ter) c.49411G>T (p.Glu16471Ter) c.49408G>T (p.Glu16470Ter) c.48841G>T (p.Glu16281Ter) c.46183G>T (p.Glu15395Ter) c.46102G>T (p.Glu15368Ter) c.27865G>T (p.Glu9289Ter) c.17719G>T (p.Glu5907Ter) | |
| 2 | g.178602432C>G | CA349546182 | TTN,TTN-AS1 | c.47266G>C (p.Glu15756Gln) c.28351G>C (p.Glu9451Gln) c.28150G>C (p.Glu9384Gln) c.27775G>C (p.Glu9259Gln) c.54970G>C (p.Glu18324Gln) c.50047G>C (p.Glu16683Gln) n.682+4751C>G n.3917+1765C>G c.54067G>C (p.Glu18023Gln) c.27961G>C (p.Glu9321Gln) c.27820G>C (p.Glu9274Gln) c.53863G>C (p.Glu17955Gln) c.49261G>C (p.Glu16421Gln) c.49258G>C (p.Glu16420Gln) c.46300G>C (p.Glu15434Gln) c.27916G>C (p.Glu9306Gln) c.49411G>C (p.Glu16471Gln) c.49408G>C (p.Glu16470Gln) c.48841G>C (p.Glu16281Gln) c.46183G>C (p.Glu15395Gln) c.46102G>C (p.Glu15368Gln) c.27865G>C (p.Glu9289Gln) c.17719G>C (p.Glu5907Gln) | gnomAD v4 |
| 2 | g.178602432C>T | CA349546185 | TTN,TTN-AS1 | c.47266G>A (p.Glu15756Lys) c.28351G>A (p.Glu9451Lys) c.28150G>A (p.Glu9384Lys) c.27775G>A (p.Glu9259Lys) c.54970G>A (p.Glu18324Lys) c.50047G>A (p.Glu16683Lys) n.682+4751C>T n.3917+1765C>T c.54067G>A (p.Glu18023Lys) c.27961G>A (p.Glu9321Lys) c.27820G>A (p.Glu9274Lys) c.53863G>A (p.Glu17955Lys) c.49261G>A (p.Glu16421Lys) c.49258G>A (p.Glu16420Lys) c.46300G>A (p.Glu15434Lys) c.27916G>A (p.Glu9306Lys) c.49411G>A (p.Glu16471Lys) c.49408G>A (p.Glu16470Lys) c.48841G>A (p.Glu16281Lys) c.46183G>A (p.Glu15395Lys) c.46102G>A (p.Glu15368Lys) c.27865G>A (p.Glu9289Lys) c.17719G>A (p.Glu5907Lys) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178602433A= | CA1310544523 | TTN,TTN-AS1 | c.47265T= (p.Asn15755=) c.28350T= (p.Asn9450=) c.28149T= (p.Asn9383=) c.27774T= (p.Asn9258=) c.54969T= (p.Asn18323=) c.50046T= (p.Asn16682=) n.682+4752A= n.3917+1766A= c.54066T= (p.Asn18022=) c.27960T= (p.Asn9320=) c.27819T= (p.Asn9273=) c.53862T= (p.Asn17954=) c.49260T= (p.Asn16420=) c.49257T= (p.Asn16419=) c.46299T= (p.Asn15433=) c.27915T= (p.Asn9305=) c.49410T= (p.Asn16470=) c.49407T= (p.Asn16469=) c.48840T= (p.Asn16280=) c.46182T= (p.Asn15394=) c.46101T= (p.Asn15367=) c.27864T= (p.Asn9288=) c.17718T= (p.Asn5906=) | |
| 2 | g.178602433A>C | CA349546193 | TTN,TTN-AS1 | c.47265T>G (p.Asn15755Lys) c.28350T>G (p.Asn9450Lys) c.28149T>G (p.Asn9383Lys) c.27774T>G (p.Asn9258Lys) c.54969T>G (p.Asn18323Lys) c.50046T>G (p.Asn16682Lys) n.682+4752A>C n.3917+1766A>C c.54066T>G (p.Asn18022Lys) c.27960T>G (p.Asn9320Lys) c.27819T>G (p.Asn9273Lys) c.53862T>G (p.Asn17954Lys) c.49260T>G (p.Asn16420Lys) c.49257T>G (p.Asn16419Lys) c.46299T>G (p.Asn15433Lys) c.27915T>G (p.Asn9305Lys) c.49410T>G (p.Asn16470Lys) c.49407T>G (p.Asn16469Lys) c.48840T>G (p.Asn16280Lys) c.46182T>G (p.Asn15394Lys) c.46101T>G (p.Asn15367Lys) c.27864T>G (p.Asn9288Lys) c.17718T>G (p.Asn5906Lys) | |
| 2 | g.178602433A>G | CA430101526 | TTN,TTN-AS1 | c.47265T>C (p.Asn15755=) c.28350T>C (p.Asn9450=) c.28149T>C (p.Asn9383=) c.27774T>C (p.Asn9258=) c.54969T>C (p.Asn18323=) c.50046T>C (p.Asn16682=) n.682+4752A>G n.3917+1766A>G c.54066T>C (p.Asn18022=) c.27960T>C (p.Asn9320=) c.27819T>C (p.Asn9273=) c.53862T>C (p.Asn17954=) c.49260T>C (p.Asn16420=) c.49257T>C (p.Asn16419=) c.46299T>C (p.Asn15433=) c.27915T>C (p.Asn9305=) c.49410T>C (p.Asn16470=) c.49407T>C (p.Asn16469=) c.48840T>C (p.Asn16280=) c.46182T>C (p.Asn15394=) c.46101T>C (p.Asn15367=) c.27864T>C (p.Asn9288=) c.17718T>C (p.Asn5906=) | |
| 2 | g.178602433A>T | CA1993550 | TTN,TTN-AS1 | c.47265T>A (p.Asn15755Lys) c.28350T>A (p.Asn9450Lys) c.28149T>A (p.Asn9383Lys) c.27774T>A (p.Asn9258Lys) c.54969T>A (p.Asn18323Lys) c.50046T>A (p.Asn16682Lys) n.682+4752A>T n.3917+1766A>T c.54066T>A (p.Asn18022Lys) c.27960T>A (p.Asn9320Lys) c.27819T>A (p.Asn9273Lys) c.53862T>A (p.Asn17954Lys) c.49260T>A (p.Asn16420Lys) c.49257T>A (p.Asn16419Lys) c.46299T>A (p.Asn15433Lys) c.27915T>A (p.Asn9305Lys) c.49410T>A (p.Asn16470Lys) c.49407T>A (p.Asn16469Lys) c.48840T>A (p.Asn16280Lys) c.46182T>A (p.Asn15394Lys) c.46101T>A (p.Asn15367Lys) c.27864T>A (p.Asn9288Lys) c.17718T>A (p.Asn5906Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178602434T>A | CA349546204 | TTN,TTN-AS1 | c.47264A>T (p.Asn15755Ile) c.28349A>T (p.Asn9450Ile) c.28148A>T (p.Asn9383Ile) c.27773A>T (p.Asn9258Ile) c.54968A>T (p.Asn18323Ile) c.50045A>T (p.Asn16682Ile) n.682+4753T>A n.3917+1767T>A c.54065A>T (p.Asn18022Ile) c.27959A>T (p.Asn9320Ile) c.27818A>T (p.Asn9273Ile) c.53861A>T (p.Asn17954Ile) c.49259A>T (p.Asn16420Ile) c.49256A>T (p.Asn16419Ile) c.46298A>T (p.Asn15433Ile) c.27914A>T (p.Asn9305Ile) c.49409A>T (p.Asn16470Ile) c.49406A>T (p.Asn16469Ile) c.48839A>T (p.Asn16280Ile) c.46181A>T (p.Asn15394Ile) c.46100A>T (p.Asn15367Ile) c.27863A>T (p.Asn9288Ile) c.17717A>T (p.Asn5906Ile) | |
| 2 | g.178602434T>C | CA349546215 | TTN,TTN-AS1 | c.47264A>G (p.Asn15755Ser) c.28349A>G (p.Asn9450Ser) c.28148A>G (p.Asn9383Ser) c.27773A>G (p.Asn9258Ser) c.54968A>G (p.Asn18323Ser) c.50045A>G (p.Asn16682Ser) n.682+4753T>C n.3917+1767T>C c.54065A>G (p.Asn18022Ser) c.27959A>G (p.Asn9320Ser) c.27818A>G (p.Asn9273Ser) c.53861A>G (p.Asn17954Ser) c.49259A>G (p.Asn16420Ser) c.49256A>G (p.Asn16419Ser) c.46298A>G (p.Asn15433Ser) c.27914A>G (p.Asn9305Ser) c.49409A>G (p.Asn16470Ser) c.49406A>G (p.Asn16469Ser) c.48839A>G (p.Asn16280Ser) c.46181A>G (p.Asn15394Ser) c.46100A>G (p.Asn15367Ser) c.27863A>G (p.Asn9288Ser) c.17717A>G (p.Asn5906Ser) | |
| 2 | g.178602434T>G | CA349546218 | TTN,TTN-AS1 | c.47264A>C (p.Asn15755Thr) c.28349A>C (p.Asn9450Thr) c.28148A>C (p.Asn9383Thr) c.27773A>C (p.Asn9258Thr) c.54968A>C (p.Asn18323Thr) c.50045A>C (p.Asn16682Thr) n.682+4753T>G n.3917+1767T>G c.54065A>C (p.Asn18022Thr) c.27959A>C (p.Asn9320Thr) c.27818A>C (p.Asn9273Thr) c.53861A>C (p.Asn17954Thr) c.49259A>C (p.Asn16420Thr) c.49256A>C (p.Asn16419Thr) c.46298A>C (p.Asn15433Thr) c.27914A>C (p.Asn9305Thr) c.49409A>C (p.Asn16470Thr) c.49406A>C (p.Asn16469Thr) c.48839A>C (p.Asn16280Thr) c.46181A>C (p.Asn15394Thr) c.46100A>C (p.Asn15367Thr) c.27863A>C (p.Asn9288Thr) c.17717A>C (p.Asn5906Thr) | |
| 2 | g.178602435T>A | CA349546225 | TTN,TTN-AS1 | c.47263A>T (p.Asn15755Tyr) c.28348A>T (p.Asn9450Tyr) c.28147A>T (p.Asn9383Tyr) c.27772A>T (p.Asn9258Tyr) c.54967A>T (p.Asn18323Tyr) c.50044A>T (p.Asn16682Tyr) n.682+4754T>A n.3917+1768T>A c.54064A>T (p.Asn18022Tyr) c.27958A>T (p.Asn9320Tyr) c.27817A>T (p.Asn9273Tyr) c.53860A>T (p.Asn17954Tyr) c.49258A>T (p.Asn16420Tyr) c.49255A>T (p.Asn16419Tyr) c.46297A>T (p.Asn15433Tyr) c.27913A>T (p.Asn9305Tyr) c.49408A>T (p.Asn16470Tyr) c.49405A>T (p.Asn16469Tyr) c.48838A>T (p.Asn16280Tyr) c.46180A>T (p.Asn15394Tyr) c.46099A>T (p.Asn15367Tyr) c.27862A>T (p.Asn9288Tyr) c.17716A>T (p.Asn5906Tyr) | |
| 2 | g.178602435T>C | CA349546227 | TTN,TTN-AS1 | c.47263A>G (p.Asn15755Asp) c.28348A>G (p.Asn9450Asp) c.28147A>G (p.Asn9383Asp) c.27772A>G (p.Asn9258Asp) c.54967A>G (p.Asn18323Asp) c.50044A>G (p.Asn16682Asp) n.682+4754T>C n.3917+1768T>C c.54064A>G (p.Asn18022Asp) c.27958A>G (p.Asn9320Asp) c.27817A>G (p.Asn9273Asp) c.53860A>G (p.Asn17954Asp) c.49258A>G (p.Asn16420Asp) c.49255A>G (p.Asn16419Asp) c.46297A>G (p.Asn15433Asp) c.27913A>G (p.Asn9305Asp) c.49408A>G (p.Asn16470Asp) c.49405A>G (p.Asn16469Asp) c.48838A>G (p.Asn16280Asp) c.46180A>G (p.Asn15394Asp) c.46099A>G (p.Asn15367Asp) c.27862A>G (p.Asn9288Asp) c.17716A>G (p.Asn5906Asp) | |
| 2 | g.178602435T>G | CA349546230 | TTN,TTN-AS1 | c.47263A>C (p.Asn15755His) c.28348A>C (p.Asn9450His) c.28147A>C (p.Asn9383His) c.27772A>C (p.Asn9258His) c.54967A>C (p.Asn18323His) c.50044A>C (p.Asn16682His) n.682+4754T>G n.3917+1768T>G c.54064A>C (p.Asn18022His) c.27958A>C (p.Asn9320His) c.27817A>C (p.Asn9273His) c.53860A>C (p.Asn17954His) c.49258A>C (p.Asn16420His) c.49255A>C (p.Asn16419His) c.46297A>C (p.Asn15433His) c.27913A>C (p.Asn9305His) c.49408A>C (p.Asn16470His) c.49405A>C (p.Asn16469His) c.48838A>C (p.Asn16280His) c.46180A>C (p.Asn15394His) c.46099A>C (p.Asn15367His) c.27862A>C (p.Asn9288His) c.17716A>C (p.Asn5906His) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178602436T>A | CA430101528 | TTN,TTN-AS1 | c.47262A>T (p.Val15754=) c.28347A>T (p.Val9449=) c.28146A>T (p.Val9382=) c.27771A>T (p.Val9257=) c.54966A>T (p.Val18322=) c.50043A>T (p.Val16681=) n.682+4755T>A n.3917+1769T>A c.54063A>T (p.Val18021=) c.27957A>T (p.Val9319=) c.27816A>T (p.Val9272=) c.53859A>T (p.Val17953=) c.49257A>T (p.Val16419=) c.49254A>T (p.Val16418=) c.46296A>T (p.Val15432=) c.27912A>T (p.Val9304=) c.49407A>T (p.Val16469=) c.49404A>T (p.Val16468=) c.48837A>T (p.Val16279=) c.46179A>T (p.Val15393=) c.46098A>T (p.Val15366=) c.27861A>T (p.Val9287=) c.17715A>T (p.Val5905=) | |
| 2 | g.178602436T>C | CA430101529 | TTN,TTN-AS1 | c.47262A>G (p.Val15754=) c.28347A>G (p.Val9449=) c.28146A>G (p.Val9382=) c.27771A>G (p.Val9257=) c.54966A>G (p.Val18322=) c.50043A>G (p.Val16681=) n.682+4755T>C n.3917+1769T>C c.54063A>G (p.Val18021=) c.27957A>G (p.Val9319=) c.27816A>G (p.Val9272=) c.53859A>G (p.Val17953=) c.49257A>G (p.Val16419=) c.49254A>G (p.Val16418=) c.46296A>G (p.Val15432=) c.27912A>G (p.Val9304=) c.49407A>G (p.Val16469=) c.49404A>G (p.Val16468=) c.48837A>G (p.Val16279=) c.46179A>G (p.Val15393=) c.46098A>G (p.Val15366=) c.27861A>G (p.Val9287=) c.17715A>G (p.Val5905=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178602436T>G | CA430101530 | TTN,TTN-AS1 | c.47262A>C (p.Val15754=) c.28347A>C (p.Val9449=) c.28146A>C (p.Val9382=) c.27771A>C (p.Val9257=) c.54966A>C (p.Val18322=) c.50043A>C (p.Val16681=) n.682+4755T>G n.3917+1769T>G c.54063A>C (p.Val18021=) c.27957A>C (p.Val9319=) c.27816A>C (p.Val9272=) c.53859A>C (p.Val17953=) c.49257A>C (p.Val16419=) c.49254A>C (p.Val16418=) c.46296A>C (p.Val15432=) c.27912A>C (p.Val9304=) c.49407A>C (p.Val16469=) c.49404A>C (p.Val16468=) c.48837A>C (p.Val16279=) c.46179A>C (p.Val15393=) c.46098A>C (p.Val15366=) c.27861A>C (p.Val9287=) c.17715A>C (p.Val5905=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178602436T= | CA1310544524 | TTN,TTN-AS1 | c.47262A= (p.Val15754=) c.28347A= (p.Val9449=) c.28146A= (p.Val9382=) c.27771A= (p.Val9257=) c.54966A= (p.Val18322=) c.50043A= (p.Val16681=) n.682+4755T= n.3917+1769T= c.54063A= (p.Val18021=) c.27957A= (p.Val9319=) c.27816A= (p.Val9272=) c.53859A= (p.Val17953=) c.49257A= (p.Val16419=) c.49254A= (p.Val16418=) c.46296A= (p.Val15432=) c.27912A= (p.Val9304=) c.49407A= (p.Val16469=) c.49404A= (p.Val16468=) c.48837A= (p.Val16279=) c.46179A= (p.Val15393=) c.46098A= (p.Val15366=) c.27861A= (p.Val9287=) c.17715A= (p.Val5905=) | |
| 2 | g.178602437A>C | CA349546245 | TTN,TTN-AS1 | c.47261T>G (p.Val15754Gly) c.28346T>G (p.Val9449Gly) c.28145T>G (p.Val9382Gly) c.27770T>G (p.Val9257Gly) c.54965T>G (p.Val18322Gly) c.50042T>G (p.Val16681Gly) n.682+4756A>C n.3917+1770A>C c.54062T>G (p.Val18021Gly) c.27956T>G (p.Val9319Gly) c.27815T>G (p.Val9272Gly) c.53858T>G (p.Val17953Gly) c.49256T>G (p.Val16419Gly) c.49253T>G (p.Val16418Gly) c.46295T>G (p.Val15432Gly) c.27911T>G (p.Val9304Gly) c.49406T>G (p.Val16469Gly) c.49403T>G (p.Val16468Gly) c.48836T>G (p.Val16279Gly) c.46178T>G (p.Val15393Gly) c.46097T>G (p.Val15366Gly) c.27860T>G (p.Val9287Gly) c.17714T>G (p.Val5905Gly) | |
| 2 | g.178602437A>G | CA349546234 | TTN,TTN-AS1 | c.47261T>C (p.Val15754Ala) c.28346T>C (p.Val9449Ala) c.28145T>C (p.Val9382Ala) c.27770T>C (p.Val9257Ala) c.54965T>C (p.Val18322Ala) c.50042T>C (p.Val16681Ala) n.682+4756A>G n.3917+1770A>G c.54062T>C (p.Val18021Ala) c.27956T>C (p.Val9319Ala) c.27815T>C (p.Val9272Ala) c.53858T>C (p.Val17953Ala) c.49256T>C (p.Val16419Ala) c.49253T>C (p.Val16418Ala) c.46295T>C (p.Val15432Ala) c.27911T>C (p.Val9304Ala) c.49406T>C (p.Val16469Ala) c.49403T>C (p.Val16468Ala) c.48836T>C (p.Val16279Ala) c.46178T>C (p.Val15393Ala) c.46097T>C (p.Val15366Ala) c.27860T>C (p.Val9287Ala) c.17714T>C (p.Val5905Ala) | |
| 2 | g.178602437A>T | CA349546237 | TTN,TTN-AS1 | c.47261T>A (p.Val15754Glu) c.28346T>A (p.Val9449Glu) c.28145T>A (p.Val9382Glu) c.27770T>A (p.Val9257Glu) c.54965T>A (p.Val18322Glu) c.50042T>A (p.Val16681Glu) n.682+4756A>T n.3917+1770A>T c.54062T>A (p.Val18021Glu) c.27956T>A (p.Val9319Glu) c.27815T>A (p.Val9272Glu) c.53858T>A (p.Val17953Glu) c.49256T>A (p.Val16419Glu) c.49253T>A (p.Val16418Glu) c.46295T>A (p.Val15432Glu) c.27911T>A (p.Val9304Glu) c.49406T>A (p.Val16469Glu) c.49403T>A (p.Val16468Glu) c.48836T>A (p.Val16279Glu) c.46178T>A (p.Val15393Glu) c.46097T>A (p.Val15366Glu) c.27860T>A (p.Val9287Glu) c.17714T>A (p.Val5905Glu) | |
| 2 | g.178602438C>A | CA349546251 | TTN,TTN-AS1 | c.47260G>T (p.Val15754Leu) c.28345G>T (p.Val9449Leu) c.28144G>T (p.Val9382Leu) c.27769G>T (p.Val9257Leu) c.54964G>T (p.Val18322Leu) c.50041G>T (p.Val16681Leu) n.682+4757C>A n.3917+1771C>A c.54061G>T (p.Val18021Leu) c.27955G>T (p.Val9319Leu) c.27814G>T (p.Val9272Leu) c.53857G>T (p.Val17953Leu) c.49255G>T (p.Val16419Leu) c.49252G>T (p.Val16418Leu) c.46294G>T (p.Val15432Leu) c.27910G>T (p.Val9304Leu) c.49405G>T (p.Val16469Leu) c.49402G>T (p.Val16468Leu) c.48835G>T (p.Val16279Leu) c.46177G>T (p.Val15393Leu) c.46096G>T (p.Val15366Leu) c.27859G>T (p.Val9287Leu) c.17713G>T (p.Val5905Leu) | |
| 2 | g.178602438C>G | CA349546254 | TTN,TTN-AS1 | c.47260G>C (p.Val15754Leu) c.28345G>C (p.Val9449Leu) c.28144G>C (p.Val9382Leu) c.27769G>C (p.Val9257Leu) c.54964G>C (p.Val18322Leu) c.50041G>C (p.Val16681Leu) n.682+4757C>G n.3917+1771C>G c.54061G>C (p.Val18021Leu) c.27955G>C (p.Val9319Leu) c.27814G>C (p.Val9272Leu) c.53857G>C (p.Val17953Leu) c.49255G>C (p.Val16419Leu) c.49252G>C (p.Val16418Leu) c.46294G>C (p.Val15432Leu) c.27910G>C (p.Val9304Leu) c.49405G>C (p.Val16469Leu) c.49402G>C (p.Val16468Leu) c.48835G>C (p.Val16279Leu) c.46177G>C (p.Val15393Leu) c.46096G>C (p.Val15366Leu) c.27859G>C (p.Val9287Leu) c.17713G>C (p.Val5905Leu) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178602438C>T | CA349546255 | TTN,TTN-AS1 | c.47260G>A (p.Val15754Ile) c.28345G>A (p.Val9449Ile) c.28144G>A (p.Val9382Ile) c.27769G>A (p.Val9257Ile) c.54964G>A (p.Val18322Ile) c.50041G>A (p.Val16681Ile) n.682+4757C>T n.3917+1771C>T c.54061G>A (p.Val18021Ile) c.27955G>A (p.Val9319Ile) c.27814G>A (p.Val9272Ile) c.53857G>A (p.Val17953Ile) c.49255G>A (p.Val16419Ile) c.49252G>A (p.Val16418Ile) c.46294G>A (p.Val15432Ile) c.27910G>A (p.Val9304Ile) c.49405G>A (p.Val16469Ile) c.49402G>A (p.Val16468Ile) c.48835G>A (p.Val16279Ile) c.46177G>A (p.Val15393Ile) c.46096G>A (p.Val15366Ile) c.27859G>A (p.Val9287Ile) c.17713G>A (p.Val5905Ile) | gnomAD v4 |
| 2 | g.178602439T>A | CA349546260 | TTN,TTN-AS1 | c.47259A>T (p.Arg15753Ser) c.28344A>T (p.Arg9448Ser) c.28143A>T (p.Arg9381Ser) c.27768A>T (p.Arg9256Ser) c.54963A>T (p.Arg18321Ser) c.50040A>T (p.Arg16680Ser) n.682+4758T>A n.3917+1772T>A c.54060A>T (p.Arg18020Ser) c.27954A>T (p.Arg9318Ser) c.27813A>T (p.Arg9271Ser) c.53856A>T (p.Arg17952Ser) c.49254A>T (p.Arg16418Ser) c.49251A>T (p.Arg16417Ser) c.46293A>T (p.Arg15431Ser) c.27909A>T (p.Arg9303Ser) c.49404A>T (p.Arg16468Ser) c.49401A>T (p.Arg16467Ser) c.48834A>T (p.Arg16278Ser) c.46176A>T (p.Arg15392Ser) c.46095A>T (p.Arg15365Ser) c.27858A>T (p.Arg9286Ser) c.17712A>T (p.Arg5904Ser) | |
| 2 | g.178602439T>C | CA430101533 | TTN,TTN-AS1 | c.47259A>G (p.Arg15753=) c.28344A>G (p.Arg9448=) c.28143A>G (p.Arg9381=) c.27768A>G (p.Arg9256=) c.54963A>G (p.Arg18321=) c.50040A>G (p.Arg16680=) n.682+4758T>C n.3917+1772T>C c.54060A>G (p.Arg18020=) c.27954A>G (p.Arg9318=) c.27813A>G (p.Arg9271=) c.53856A>G (p.Arg17952=) c.49254A>G (p.Arg16418=) c.49251A>G (p.Arg16417=) c.46293A>G (p.Arg15431=) c.27909A>G (p.Arg9303=) c.49404A>G (p.Arg16468=) c.49401A>G (p.Arg16467=) c.48834A>G (p.Arg16278=) c.46176A>G (p.Arg15392=) c.46095A>G (p.Arg15365=) c.27858A>G (p.Arg9286=) c.17712A>G (p.Arg5904=) | gnomAD v4 |
| 2 | g.178602439T>G | CA349546266 | TTN,TTN-AS1 | c.47259A>C (p.Arg15753Ser) c.28344A>C (p.Arg9448Ser) c.28143A>C (p.Arg9381Ser) c.27768A>C (p.Arg9256Ser) c.54963A>C (p.Arg18321Ser) c.50040A>C (p.Arg16680Ser) n.682+4758T>G n.3917+1772T>G c.54060A>C (p.Arg18020Ser) c.27954A>C (p.Arg9318Ser) c.27813A>C (p.Arg9271Ser) c.53856A>C (p.Arg17952Ser) c.49254A>C (p.Arg16418Ser) c.49251A>C (p.Arg16417Ser) c.46293A>C (p.Arg15431Ser) c.27909A>C (p.Arg9303Ser) c.49404A>C (p.Arg16468Ser) c.49401A>C (p.Arg16467Ser) c.48834A>C (p.Arg16278Ser) c.46176A>C (p.Arg15392Ser) c.46095A>C (p.Arg15365Ser) c.27858A>C (p.Arg9286Ser) c.17712A>C (p.Arg5904Ser) | |
| 2 | g.178602440C>A | CA349546273 | TTN,TTN-AS1 | c.47258G>T (p.Arg15753Ile) c.28343G>T (p.Arg9448Ile) c.28142G>T (p.Arg9381Ile) c.27767G>T (p.Arg9256Ile) c.54962G>T (p.Arg18321Ile) c.50039G>T (p.Arg16680Ile) n.682+4759C>A n.3917+1773C>A c.54059G>T (p.Arg18020Ile) c.27953G>T (p.Arg9318Ile) c.27812G>T (p.Arg9271Ile) c.53855G>T (p.Arg17952Ile) c.49253G>T (p.Arg16418Ile) c.49250G>T (p.Arg16417Ile) c.46292G>T (p.Arg15431Ile) c.27908G>T (p.Arg9303Ile) c.49403G>T (p.Arg16468Ile) c.49400G>T (p.Arg16467Ile) c.48833G>T (p.Arg16278Ile) c.46175G>T (p.Arg15392Ile) c.46094G>T (p.Arg15365Ile) c.27857G>T (p.Arg9286Ile) c.17711G>T (p.Arg5904Ile) | |
| 2 | g.178602440C= | CA1310544525 | TTN,TTN-AS1 | c.47258G= (p.Arg15753=) c.28343G= (p.Arg9448=) c.28142G= (p.Arg9381=) c.27767G= (p.Arg9256=) c.54962G= (p.Arg18321=) c.50039G= (p.Arg16680=) n.682+4759C= n.3917+1773C= c.54059G= (p.Arg18020=) c.27953G= (p.Arg9318=) c.27812G= (p.Arg9271=) c.53855G= (p.Arg17952=) c.49253G= (p.Arg16418=) c.49250G= (p.Arg16417=) c.46292G= (p.Arg15431=) c.27908G= (p.Arg9303=) c.49403G= (p.Arg16468=) c.49400G= (p.Arg16467=) c.48833G= (p.Arg16278=) c.46175G= (p.Arg15392=) c.46094G= (p.Arg15365=) c.27857G= (p.Arg9286=) c.17711G= (p.Arg5904=) | |
| 2 | g.178602440C>G | CA349546276 | TTN,TTN-AS1 | c.47258G>C (p.Arg15753Thr) c.28343G>C (p.Arg9448Thr) c.28142G>C (p.Arg9381Thr) c.27767G>C (p.Arg9256Thr) c.54962G>C (p.Arg18321Thr) c.50039G>C (p.Arg16680Thr) n.682+4759C>G n.3917+1773C>G c.54059G>C (p.Arg18020Thr) c.27953G>C (p.Arg9318Thr) c.27812G>C (p.Arg9271Thr) c.53855G>C (p.Arg17952Thr) c.49253G>C (p.Arg16418Thr) c.49250G>C (p.Arg16417Thr) c.46292G>C (p.Arg15431Thr) c.27908G>C (p.Arg9303Thr) c.49403G>C (p.Arg16468Thr) c.49400G>C (p.Arg16467Thr) c.48833G>C (p.Arg16278Thr) c.46175G>C (p.Arg15392Thr) c.46094G>C (p.Arg15365Thr) c.27857G>C (p.Arg9286Thr) c.17711G>C (p.Arg5904Thr) | gnomAD v4 |
| 2 | g.178602440C>T | CA1993551 | TTN,TTN-AS1 | c.47258G>A (p.Arg15753Lys) c.28343G>A (p.Arg9448Lys) c.28142G>A (p.Arg9381Lys) c.27767G>A (p.Arg9256Lys) c.54962G>A (p.Arg18321Lys) c.50039G>A (p.Arg16680Lys) n.682+4759C>T n.3917+1773C>T c.54059G>A (p.Arg18020Lys) c.27953G>A (p.Arg9318Lys) c.27812G>A (p.Arg9271Lys) c.53855G>A (p.Arg17952Lys) c.49253G>A (p.Arg16418Lys) c.49250G>A (p.Arg16417Lys) c.46292G>A (p.Arg15431Lys) c.27908G>A (p.Arg9303Lys) c.49403G>A (p.Arg16468Lys) c.49400G>A (p.Arg16467Lys) c.48833G>A (p.Arg16278Lys) c.46175G>A (p.Arg15392Lys) c.46094G>A (p.Arg15365Lys) c.27857G>A (p.Arg9286Lys) c.17711G>A (p.Arg5904Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178602441T>A | CA349546277 | TTN,TTN-AS1 | c.47257A>T (p.Arg15753Ter) c.28342A>T (p.Arg9448Ter) c.28141A>T (p.Arg9381Ter) c.27766A>T (p.Arg9256Ter) c.54961A>T (p.Arg18321Ter) c.50038A>T (p.Arg16680Ter) n.682+4760T>A n.3917+1774T>A c.54058A>T (p.Arg18020Ter) c.27952A>T (p.Arg9318Ter) c.27811A>T (p.Arg9271Ter) c.53854A>T (p.Arg17952Ter) c.49252A>T (p.Arg16418Ter) c.49249A>T (p.Arg16417Ter) c.46291A>T (p.Arg15431Ter) c.27907A>T (p.Arg9303Ter) c.49402A>T (p.Arg16468Ter) c.49399A>T (p.Arg16467Ter) c.48832A>T (p.Arg16278Ter) c.46174A>T (p.Arg15392Ter) c.46093A>T (p.Arg15365Ter) c.27856A>T (p.Arg9286Ter) c.17710A>T (p.Arg5904Ter) | |
| 2 | g.178602441T>C | CA349546279 | TTN,TTN-AS1 | c.47257A>G (p.Arg15753Gly) c.28342A>G (p.Arg9448Gly) c.28141A>G (p.Arg9381Gly) c.27766A>G (p.Arg9256Gly) c.54961A>G (p.Arg18321Gly) c.50038A>G (p.Arg16680Gly) n.682+4760T>C n.3917+1774T>C c.54058A>G (p.Arg18020Gly) c.27952A>G (p.Arg9318Gly) c.27811A>G (p.Arg9271Gly) c.53854A>G (p.Arg17952Gly) c.49252A>G (p.Arg16418Gly) c.49249A>G (p.Arg16417Gly) c.46291A>G (p.Arg15431Gly) c.27907A>G (p.Arg9303Gly) c.49402A>G (p.Arg16468Gly) c.49399A>G (p.Arg16467Gly) c.48832A>G (p.Arg16278Gly) c.46174A>G (p.Arg15392Gly) c.46093A>G (p.Arg15365Gly) c.27856A>G (p.Arg9286Gly) c.17710A>G (p.Arg5904Gly) | gnomAD v4 |
| 2 | g.178602441T>G | CA430101535 | TTN,TTN-AS1 | c.47257A>C (p.Arg15753=) c.28342A>C (p.Arg9448=) c.28141A>C (p.Arg9381=) c.27766A>C (p.Arg9256=) c.54961A>C (p.Arg18321=) c.50038A>C (p.Arg16680=) n.682+4760T>G n.3917+1774T>G c.54058A>C (p.Arg18020=) c.27952A>C (p.Arg9318=) c.27811A>C (p.Arg9271=) c.53854A>C (p.Arg17952=) c.49252A>C (p.Arg16418=) c.49249A>C (p.Arg16417=) c.46291A>C (p.Arg15431=) c.27907A>C (p.Arg9303=) c.49402A>C (p.Arg16468=) c.49399A>C (p.Arg16467=) c.48832A>C (p.Arg16278=) c.46174A>C (p.Arg15392=) c.46093A>C (p.Arg15365=) c.27856A>C (p.Arg9286=) c.17710A>C (p.Arg5904=) | |
| 2 | g.178602443_178602444del | CA2586965458 | TTN,TTN-AS1 | c.47256_47257del (p.Arg15753SerfsTer3) c.28341_28342del (p.Arg9448SerfsTer3) c.28140_28141del (p.Arg9381SerfsTer3) c.27765_27766del (p.Arg9256SerfsTer3) c.54960_54961del (p.Arg18321SerfsTer3) c.50037_50038del (p.Arg16680SerfsTer3) n.682+4762_682+4763del n.3917+1776_3917+1777del c.54057_54058del (p.Arg18020SerfsTer3) c.27951_27952del (p.Arg9318SerfsTer3) c.27810_27811del (p.Arg9271SerfsTer3) c.53853_53854del (p.Arg17952SerfsTer3) c.49251_49252del (p.Arg16418SerfsTer3) c.49248_49249del (p.Arg16417SerfsTer3) c.46290_46291del (p.Arg15431SerfsTer3) c.27906_27907del (p.Arg9303SerfsTer3) c.49401_49402del (p.Arg16468SerfsTer3) c.49398_49399del (p.Arg16467SerfsTer3) c.48831_48832del (p.Arg16278SerfsTer3) c.46173_46174del (p.Arg15392SerfsTer3) c.46092_46093del (p.Arg15365SerfsTer3) c.27855_27856del (p.Arg9286SerfsTer3) c.17709_17710del (p.Arg5904SerfsTer3) | gnomAD v4 |