| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.97343386_97343413del | CA2690872682 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2321_2348del (p.Met774ThrfsTer?) n.2655_2682del n.2524_2551del n.417_444del c.2453_2480del (p.Met818ThrfsTer?) n.236-5725_236-5698del n.3876_3903del n.3436_3463del c.2444_2471del (p.Met815ThrfsTer?) c.2312_2339del (p.Met771ThrfsTer?) | gnomAD v4 |
| 9 | g.97343400A= | CA1866473447 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2335A= (p.Ile779=) n.2669A= n.2538A= n.431A= c.2467A= (p.Ile823=) n.236-5711A= n.3890A= n.3450A= c.2458A= (p.Ile820=) c.2326A= (p.Ile776=) | |
| 9 | g.97343400A>C | CA374158588 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2335A>C (p.Ile779Leu) n.2669A>C n.2538A>C n.431A>C c.2467A>C (p.Ile823Leu) n.236-5711A>C n.3890A>C n.3450A>C c.2458A>C (p.Ile820Leu) c.2326A>C (p.Ile776Leu) | |
| 9 | g.97343400A>G | CA374158589 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2335A>G (p.Ile779Val) n.2669A>G n.2538A>G n.431A>G c.2467A>G (p.Ile823Val) n.236-5711A>G n.3890A>G n.3450A>G c.2458A>G (p.Ile820Val) c.2326A>G (p.Ile776Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.97343400A>T | CA374158590 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2335A>T (p.Ile779Phe) n.2669A>T n.2538A>T n.431A>T c.2467A>T (p.Ile823Phe) n.236-5711A>T n.3890A>T n.3450A>T c.2458A>T (p.Ile820Phe) c.2326A>T (p.Ile776Phe) | |
| 9 | g.97343401T>A | CA374158592 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2336T>A (p.Ile779Asn) n.2670T>A n.2539T>A n.432T>A c.2468T>A (p.Ile823Asn) n.236-5710T>A n.3891T>A n.3451T>A c.2459T>A (p.Ile820Asn) c.2327T>A (p.Ile776Asn) | |
| 9 | g.97343401T>C | CA374158593 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2336T>C (p.Ile779Thr) n.2670T>C n.2539T>C n.432T>C c.2468T>C (p.Ile823Thr) n.236-5710T>C n.3891T>C n.3451T>C c.2459T>C (p.Ile820Thr) c.2327T>C (p.Ile776Thr) | |
| 9 | g.97343401T>G | CA374158591 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2336T>G (p.Ile779Ser) n.2670T>G n.2539T>G n.432T>G c.2468T>G (p.Ile823Ser) n.236-5710T>G n.3891T>G n.3451T>G c.2459T>G (p.Ile820Ser) c.2327T>G (p.Ile776Ser) | |
| 9 | g.97343402C>A | CA466158246 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2337C>A (p.Ile779=) n.2671C>A n.2540C>A n.433C>A c.2469C>A (p.Ile823=) n.236-5709C>A n.3892C>A n.3452C>A c.2460C>A (p.Ile820=) c.2328C>A (p.Ile776=) | |
| 9 | g.97343402C= | CA1866473449 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2337C= (p.Ile779=) n.2671C= n.2540C= n.433C= c.2469C= (p.Ile823=) n.236-5709C= n.3892C= n.3452C= c.2460C= (p.Ile820=) c.2328C= (p.Ile776=) | |
| 9 | g.97343402C>G | CA374158594 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2337C>G (p.Ile779Met) n.2671C>G n.2540C>G n.433C>G c.2469C>G (p.Ile823Met) n.236-5709C>G n.3892C>G n.3452C>G c.2460C>G (p.Ile820Met) c.2328C>G (p.Ile776Met) | dbSNP gnomAD v4 |
| 9 | g.97343402C>T | CA5145559 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2337C>T (p.Ile779=) n.2671C>T n.2540C>T n.433C>T c.2469C>T (p.Ile823=) n.236-5709C>T n.3892C>T n.3452C>T c.2460C>T (p.Ile820=) c.2328C>T (p.Ile776=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.97343403T>A | CA374158595 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2338T>A (p.Ser780Thr) n.2672T>A n.2541T>A n.434T>A c.2470T>A (p.Ser824Thr) n.236-5708T>A n.3893T>A n.3453T>A c.2461T>A (p.Ser821Thr) c.2329T>A (p.Ser777Thr) | |
| 9 | g.97343403T>C | CA374158596 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2338T>C (p.Ser780Pro) n.2672T>C n.2541T>C n.434T>C c.2470T>C (p.Ser824Pro) n.236-5708T>C n.3893T>C n.3453T>C c.2461T>C (p.Ser821Pro) c.2329T>C (p.Ser777Pro) | |
| 9 | g.97343403T>G | CA374158597 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2338T>G (p.Ser780Ala) n.2672T>G n.2541T>G n.434T>G c.2470T>G (p.Ser824Ala) n.236-5708T>G n.3893T>G n.3453T>G c.2461T>G (p.Ser821Ala) c.2329T>G (p.Ser777Ala) | |
| 9 | g.97343404C>A | CA374158600 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2339C>A (p.Ser780Tyr) n.2673C>A n.2542C>A n.435C>A c.2471C>A (p.Ser824Tyr) n.236-5707C>A n.3894C>A n.3454C>A c.2462C>A (p.Ser821Tyr) c.2330C>A (p.Ser777Tyr) | |
| 9 | g.97343404C>G | CA374158598 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2339C>G (p.Ser780Cys) n.2673C>G n.2542C>G n.435C>G c.2471C>G (p.Ser824Cys) n.236-5707C>G n.3894C>G n.3454C>G c.2462C>G (p.Ser821Cys) c.2330C>G (p.Ser777Cys) | |
| 9 | g.97343404C>T | CA374158599 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2339C>T (p.Ser780Phe) n.2673C>T n.2542C>T n.435C>T c.2471C>T (p.Ser824Phe) n.236-5707C>T n.3894C>T n.3454C>T c.2462C>T (p.Ser821Phe) c.2330C>T (p.Ser777Phe) | |
| 9 | g.97343405C>A | CA466158262 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2340C>A (p.Ser780=) n.2674C>A n.2543C>A n.436C>A c.2472C>A (p.Ser824=) n.236-5706C>A n.3895C>A n.3455C>A c.2463C>A (p.Ser821=) c.2331C>A (p.Ser777=) | |
| 9 | g.97343405C= | CA1866473451 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2340C= (p.Ser780=) n.2674C= n.2543C= n.436C= c.2472C= (p.Ser824=) n.236-5706C= n.3895C= n.3455C= c.2463C= (p.Ser821=) c.2331C= (p.Ser777=) | |
| 9 | g.97343405C>G | CA466158266 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2340C>G (p.Ser780=) n.2674C>G n.2543C>G n.436C>G c.2472C>G (p.Ser824=) n.236-5706C>G n.3895C>G n.3455C>G c.2463C>G (p.Ser821=) c.2331C>G (p.Ser777=) | |
| 9 | g.97343405C>T | CA466158264 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2340C>T (p.Ser780=) n.2674C>T n.2543C>T n.436C>T c.2472C>T (p.Ser824=) n.236-5706C>T n.3895C>T n.3455C>T c.2463C>T (p.Ser821=) c.2331C>T (p.Ser777=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.97343406A= | CA1866473453 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2341A= (p.Ser781=) n.2675A= n.2544A= n.437A= c.2473A= (p.Ser825=) n.236-5705A= n.3896A= n.3456A= c.2464A= (p.Ser822=) c.2332A= (p.Ser778=) | |
| 9 | g.97343406A>C | CA374158601 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2341A>C (p.Ser781Arg) n.2675A>C n.2544A>C n.437A>C c.2473A>C (p.Ser825Arg) n.236-5705A>C n.3896A>C n.3456A>C c.2464A>C (p.Ser822Arg) c.2332A>C (p.Ser778Arg) | |
| 9 | g.97343406A>G | CA5145560 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2341A>G (p.Ser781Gly) n.2675A>G n.2544A>G n.437A>G c.2473A>G (p.Ser825Gly) n.236-5705A>G n.3896A>G n.3456A>G c.2464A>G (p.Ser822Gly) c.2332A>G (p.Ser778Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.97343406A>T | CA374158602 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2341A>T (p.Ser781Cys) n.2675A>T n.2544A>T n.437A>T c.2473A>T (p.Ser825Cys) n.236-5705A>T n.3896A>T n.3456A>T c.2464A>T (p.Ser822Cys) c.2332A>T (p.Ser778Cys) | |
| 9 | g.97343407G>A | CA374158603 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2342G>A (p.Ser781Asn) n.2676G>A n.2545G>A n.438G>A c.2474G>A (p.Ser825Asn) n.236-5704G>A n.3897G>A n.3457G>A c.2465G>A (p.Ser822Asn) c.2333G>A (p.Ser778Asn) | gnomAD v4 |
| 9 | g.97343407G>C | CA374158604 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2342G>C (p.Ser781Thr) n.2676G>C n.2545G>C n.438G>C c.2474G>C (p.Ser825Thr) n.236-5704G>C n.3897G>C n.3457G>C c.2465G>C (p.Ser822Thr) c.2333G>C (p.Ser778Thr) | |
| 9 | g.97343407G>T | CA374158605 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2342G>T (p.Ser781Ile) n.2676G>T n.2545G>T n.438G>T c.2474G>T (p.Ser825Ile) n.236-5704G>T n.3897G>T n.3457G>T c.2465G>T (p.Ser822Ile) c.2333G>T (p.Ser778Ile) | |
| 9 | g.97343408T>A | CA374158607 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2343T>A (p.Ser781Arg) n.2677T>A n.2546T>A n.439T>A c.2475T>A (p.Ser825Arg) n.236-5703T>A n.3898T>A n.3458T>A c.2466T>A (p.Ser822Arg) c.2334T>A (p.Ser778Arg) | |
| 9 | g.97343408T>C | CA466158278 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2343T>C (p.Ser781=) n.2677T>C n.2546T>C n.439T>C c.2475T>C (p.Ser825=) n.236-5703T>C n.3898T>C n.3458T>C c.2466T>C (p.Ser822=) c.2334T>C (p.Ser778=) | |
| 9 | g.97343408T>G | CA374158606 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2343T>G (p.Ser781Arg) n.2677T>G n.2546T>G n.439T>G c.2475T>G (p.Ser825Arg) n.236-5703T>G n.3898T>G n.3458T>G c.2466T>G (p.Ser822Arg) c.2334T>G (p.Ser778Arg) | |
| 9 | g.97343409G>A | CA374158608 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2344G>A (p.Gly782Arg) n.2678G>A n.2547G>A n.440G>A c.2476G>A (p.Gly826Arg) n.236-5702G>A n.3899G>A n.3459G>A c.2467G>A (p.Gly823Arg) c.2335G>A (p.Gly779Arg) | gnomAD v4 |
| 9 | g.97343409G>C | CA374158610 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2344G>C (p.Gly782Arg) n.2678G>C n.2547G>C n.440G>C c.2476G>C (p.Gly826Arg) n.236-5702G>C n.3899G>C n.3459G>C c.2467G>C (p.Gly823Arg) c.2335G>C (p.Gly779Arg) | |
| 9 | g.97343409G>T | CA374158609 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2344G>T (p.Gly782Ter) n.2678G>T n.2547G>T n.440G>T c.2476G>T (p.Gly826Ter) n.236-5702G>T n.3899G>T n.3459G>T c.2467G>T (p.Gly823Ter) c.2335G>T (p.Gly779Ter) | |
| 9 | g.97343410G>A | CA374158611 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2345G>A (p.Gly782Glu) n.2679G>A n.2548G>A n.441G>A c.2477G>A (p.Gly826Glu) n.236-5701G>A n.3900G>A n.3460G>A c.2468G>A (p.Gly823Glu) c.2336G>A (p.Gly779Glu) | |
| 9 | g.97343410G>C | CA374158612 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2345G>C (p.Gly782Ala) n.2679G>C n.2548G>C n.441G>C c.2477G>C (p.Gly826Ala) n.236-5701G>C n.3900G>C n.3460G>C c.2468G>C (p.Gly823Ala) c.2336G>C (p.Gly779Ala) | |
| 9 | g.97343410G>T | CA374158613 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2345G>T (p.Gly782Val) n.2679G>T n.2548G>T n.441G>T c.2477G>T (p.Gly826Val) n.236-5701G>T n.3900G>T n.3460G>T c.2468G>T (p.Gly823Val) c.2336G>T (p.Gly779Val) | |
| 9 | g.97343411A= | CA1866473455 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2346A= (p.Gly782=) n.2680A= n.2549A= n.442A= c.2478A= (p.Gly826=) n.236-5700A= n.3901A= n.3461A= c.2469A= (p.Gly823=) c.2337A= (p.Gly779=) | |
| 9 | g.97343411A>C | CA466158288 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2346A>C (p.Gly782=) n.2680A>C n.2549A>C n.442A>C c.2478A>C (p.Gly826=) n.236-5700A>C n.3901A>C n.3461A>C c.2469A>C (p.Gly823=) c.2337A>C (p.Gly779=) | |
| 9 | g.97343411A>G | CA466158291 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2346A>G (p.Gly782=) n.2680A>G n.2549A>G n.442A>G c.2478A>G (p.Gly826=) n.236-5700A>G n.3901A>G n.3461A>G c.2469A>G (p.Gly823=) c.2337A>G (p.Gly779=) | |
| 9 | g.97343411A>T | CA196691564 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2346A>T (p.Gly782=) n.2680A>T n.2549A>T n.442A>T c.2478A>T (p.Gly826=) n.236-5700A>T n.3901A>T n.3461A>T c.2469A>T (p.Gly823=) c.2337A>T (p.Gly779=) | dbSNP gnomAD v4 |
| 9 | g.97343412A>C | CA374158614 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2347A>C (p.Asn783His) n.2681A>C n.2550A>C n.443A>C c.2479A>C (p.Asn827His) n.236-5699A>C n.3902A>C n.3462A>C c.2470A>C (p.Asn824His) c.2338A>C (p.Asn780His) | |
| 9 | g.97343412A>G | CA374158615 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2347A>G (p.Asn783Asp) n.2681A>G n.2550A>G n.443A>G c.2479A>G (p.Asn827Asp) n.236-5699A>G n.3902A>G n.3462A>G c.2470A>G (p.Asn824Asp) c.2338A>G (p.Asn780Asp) | |
| 9 | g.97343412A>T | CA374158616 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2347A>T (p.Asn783Tyr) n.2681A>T n.2550A>T n.443A>T c.2479A>T (p.Asn827Tyr) n.236-5699A>T n.3902A>T n.3462A>T c.2470A>T (p.Asn824Tyr) c.2338A>T (p.Asn780Tyr) | |
| 9 | g.97343413A>C | CA374158619 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2348A>C (p.Asn783Thr) n.2682A>C n.2551A>C n.444A>C c.2480A>C (p.Asn827Thr) n.236-5698A>C n.3903A>C n.3463A>C c.2471A>C (p.Asn824Thr) c.2339A>C (p.Asn780Thr) | |
| 9 | g.97343413A>G | CA374158617 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2348A>G (p.Asn783Ser) n.2682A>G n.2551A>G n.444A>G c.2480A>G (p.Asn827Ser) n.236-5698A>G n.3903A>G n.3463A>G c.2471A>G (p.Asn824Ser) c.2339A>G (p.Asn780Ser) | |
| 9 | g.97343413A>T | CA374158618 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2348A>T (p.Asn783Ile) n.2682A>T n.2551A>T n.444A>T c.2480A>T (p.Asn827Ile) n.236-5698A>T n.3903A>T n.3463A>T c.2471A>T (p.Asn824Ile) c.2339A>T (p.Asn780Ile) | |
| 9 | g.97343414C>A | CA374158620 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2349C>A (p.Asn783Lys) n.2683C>A n.2552C>A n.445C>A c.2481C>A (p.Asn827Lys) n.236-5697C>A n.3904C>A n.3464C>A c.2472C>A (p.Asn824Lys) c.2340C>A (p.Asn780Lys) | |
| 9 | g.97343414C>G | CA374158621 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2349C>G (p.Asn783Lys) n.2683C>G n.2552C>G n.445C>G c.2481C>G (p.Asn827Lys) n.236-5697C>G n.3904C>G n.3464C>G c.2472C>G (p.Asn824Lys) c.2340C>G (p.Asn780Lys) |