| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.97343500C>A | CA374158816 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2435C>A (p.Ser812Tyr) n.2769C>A n.2638C>A n.531C>A c.2567C>A (p.Ser856Tyr) n.236-5611C>A n.3990C>A n.3550C>A c.2558C>A (p.Ser853Tyr) c.2426C>A (p.Ser809Tyr) | |
| 9 | g.97343500C= | CA1866473531 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2435C= (p.Ser812=) n.2769C= n.2638C= n.531C= c.2567C= (p.Ser856=) n.236-5611C= n.3990C= n.3550C= c.2558C= (p.Ser853=) c.2426C= (p.Ser809=) | |
| 9 | g.97343500C>G | CA5145576 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2435C>G (p.Ser812Cys) n.2769C>G n.2638C>G n.531C>G c.2567C>G (p.Ser856Cys) n.236-5611C>G n.3990C>G n.3550C>G c.2558C>G (p.Ser853Cys) c.2426C>G (p.Ser809Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.97343500C>T | CA374158817 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2435C>T (p.Ser812Phe) n.2769C>T n.2638C>T n.531C>T c.2567C>T (p.Ser856Phe) n.236-5611C>T n.3990C>T n.3550C>T c.2558C>T (p.Ser853Phe) c.2426C>T (p.Ser809Phe) | dbSNP |
| 9 | g.97343501C>A | CA466159144 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2436C>A (p.Ser812=) n.2770C>A n.2639C>A n.532C>A c.2568C>A (p.Ser856=) n.236-5610C>A n.3991C>A n.3551C>A c.2559C>A (p.Ser853=) c.2427C>A (p.Ser809=) | |
| 9 | g.97343501C= | CA1866473535 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2436C= (p.Ser812=) n.2770C= n.2639C= n.532C= c.2568C= (p.Ser856=) n.236-5610C= n.3991C= n.3551C= c.2559C= (p.Ser853=) c.2427C= (p.Ser809=) | |
| 9 | g.97343501C>G | CA466159146 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2436C>G (p.Ser812=) n.2770C>G n.2639C>G n.532C>G c.2568C>G (p.Ser856=) n.236-5610C>G n.3991C>G n.3551C>G c.2559C>G (p.Ser853=) c.2427C>G (p.Ser809=) | dbSNP gnomAD v4 |
| 9 | g.97343501C>T | CA466159148 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2436C>T (p.Ser812=) n.2770C>T n.2639C>T n.532C>T c.2568C>T (p.Ser856=) n.236-5610C>T n.3991C>T n.3551C>T c.2559C>T (p.Ser853=) c.2427C>T (p.Ser809=) | dbSNP gnomAD v4 |
| 9 | g.97343502A>C | CA374158818 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2437A>C (p.Ser813Arg) n.2771A>C n.2640A>C n.533A>C c.2569A>C (p.Ser857Arg) n.236-5609A>C n.3992A>C n.3552A>C c.2560A>C (p.Ser854Arg) c.2428A>C (p.Ser810Arg) | |
| 9 | g.97343502A>G | CA374158819 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2437A>G (p.Ser813Gly) n.2771A>G n.2640A>G n.533A>G c.2569A>G (p.Ser857Gly) n.236-5609A>G n.3992A>G n.3552A>G c.2560A>G (p.Ser854Gly) c.2428A>G (p.Ser810Gly) | |
| 9 | g.97343502A>T | CA374158820 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2437A>T (p.Ser813Cys) n.2771A>T n.2640A>T n.533A>T c.2569A>T (p.Ser857Cys) n.236-5609A>T n.3992A>T n.3552A>T c.2560A>T (p.Ser854Cys) c.2428A>T (p.Ser810Cys) | |
| 9 | g.97343503G>A | CA374158823 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2438G>A (p.Ser813Asn) n.2772G>A n.2641G>A n.534G>A c.2570G>A (p.Ser857Asn) n.236-5608G>A n.3993G>A n.3553G>A c.2561G>A (p.Ser854Asn) c.2429G>A (p.Ser810Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.97343503G>C | CA374158821 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2438G>C (p.Ser813Thr) n.2772G>C n.2641G>C n.534G>C c.2570G>C (p.Ser857Thr) n.236-5608G>C n.3993G>C n.3553G>C c.2561G>C (p.Ser854Thr) c.2429G>C (p.Ser810Thr) | |
| 9 | g.97343503G= | CA1866473537 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2438G= (p.Ser813=) n.2772G= n.2641G= n.534G= c.2570G= (p.Ser857=) n.236-5608G= n.3993G= n.3553G= c.2561G= (p.Ser854=) c.2429G= (p.Ser810=) | |
| 9 | g.97343503G>T | CA374158822 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2438G>T (p.Ser813Ile) n.2772G>T n.2641G>T n.534G>T c.2570G>T (p.Ser857Ile) n.236-5608G>T n.3993G>T n.3553G>T c.2561G>T (p.Ser854Ile) c.2429G>T (p.Ser810Ile) | |
| 9 | g.97343504T>A | CA374158824 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2439T>A (p.Ser813Arg) n.2773T>A n.2642T>A n.535T>A c.2571T>A (p.Ser857Arg) n.236-5607T>A n.3994T>A n.3554T>A c.2562T>A (p.Ser854Arg) c.2430T>A (p.Ser810Arg) | |
| 9 | g.97343504T>C | CA466159156 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2439T>C (p.Ser813=) n.2773T>C n.2642T>C n.535T>C c.2571T>C (p.Ser857=) n.236-5607T>C n.3994T>C n.3554T>C c.2562T>C (p.Ser854=) c.2430T>C (p.Ser810=) | gnomAD v4 |
| 9 | g.97343504T>G | CA374158825 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2439T>G (p.Ser813Arg) n.2773T>G n.2642T>G n.535T>G c.2571T>G (p.Ser857Arg) n.236-5607T>G n.3994T>G n.3554T>G c.2562T>G (p.Ser854Arg) c.2430T>G (p.Ser810Arg) | |
| 9 | g.97343505G>A | CA374158826 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2440G>A (p.Ala814Thr) n.2774G>A n.2643G>A n.536G>A c.2572G>A (p.Ala858Thr) n.236-5606G>A n.3995G>A n.3555G>A c.2563G>A (p.Ala855Thr) c.2431G>A (p.Ala811Thr) | |
| 9 | g.97343505G>C | CA374158827 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2440G>C (p.Ala814Pro) n.2774G>C n.2643G>C n.536G>C c.2572G>C (p.Ala858Pro) n.236-5606G>C n.3995G>C n.3555G>C c.2563G>C (p.Ala855Pro) c.2431G>C (p.Ala811Pro) | gnomAD v4 |
| 9 | g.97343505G>T | CA374158828 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2440G>T (p.Ala814Ser) n.2774G>T n.2643G>T n.536G>T c.2572G>T (p.Ala858Ser) n.236-5606G>T n.3995G>T n.3555G>T c.2563G>T (p.Ala855Ser) c.2431G>T (p.Ala811Ser) | |
| 9 | g.97343506C>A | CA374158829 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2441C>A (p.Ala814Asp) n.2775C>A n.2644C>A n.537C>A c.2573C>A (p.Ala858Asp) n.236-5605C>A n.3996C>A n.3556C>A c.2564C>A (p.Ala855Asp) c.2432C>A (p.Ala811Asp) | COSMIC COSMIC COSMIC |
| 9 | g.97343506C>G | CA374158831 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2441C>G (p.Ala814Gly) n.2775C>G n.2644C>G n.537C>G c.2573C>G (p.Ala858Gly) n.236-5605C>G n.3996C>G n.3556C>G c.2564C>G (p.Ala855Gly) c.2432C>G (p.Ala811Gly) | |
| 9 | g.97343506C>T | CA374158830 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2441C>T (p.Ala814Val) n.2775C>T n.2644C>T n.537C>T c.2573C>T (p.Ala858Val) n.236-5605C>T n.3996C>T n.3556C>T c.2564C>T (p.Ala855Val) c.2432C>T (p.Ala811Val) | |
| 9 | g.97343507C>A | CA466159162 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2442C>A (p.Ala814=) n.2776C>A n.2645C>A n.538C>A c.2574C>A (p.Ala858=) n.236-5604C>A n.3997C>A n.3557C>A c.2565C>A (p.Ala855=) c.2433C>A (p.Ala811=) | |
| 9 | g.97343507C= | CA1866473539 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2442C= (p.Ala814=) n.2776C= n.2645C= n.538C= c.2574C= (p.Ala858=) n.236-5604C= n.3997C= n.3557C= c.2565C= (p.Ala855=) c.2433C= (p.Ala811=) | |
| 9 | g.97343507C>G | CA466159164 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2442C>G (p.Ala814=) n.2776C>G n.2645C>G n.538C>G c.2574C>G (p.Ala858=) n.236-5604C>G n.3997C>G n.3557C>G c.2565C>G (p.Ala855=) c.2433C>G (p.Ala811=) | |
| 9 | g.97343507C>T | CA196691690 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2442C>T (p.Ala814=) n.2776C>T n.2645C>T n.538C>T c.2574C>T (p.Ala858=) n.236-5604C>T n.3997C>T n.3557C>T c.2565C>T (p.Ala855=) c.2433C>T (p.Ala811=) | dbSNP |
| 9 | g.97343508A= | CA1866473541 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2443A= (p.Lys815=) n.2777A= n.2646A= n.539A= c.2575A= (p.Lys859=) n.236-5603A= n.3998A= n.3558A= c.2566A= (p.Lys856=) c.2434A= (p.Lys812=) | |
| 9 | g.97343508A>C | CA374158832 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2443A>C (p.Lys815Gln) n.2777A>C n.2646A>C n.539A>C c.2575A>C (p.Lys859Gln) n.236-5603A>C n.3998A>C n.3558A>C c.2566A>C (p.Lys856Gln) c.2434A>C (p.Lys812Gln) | |
| 9 | g.97343508A>G | CA374158833 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2443A>G (p.Lys815Glu) n.2777A>G n.2646A>G n.539A>G c.2575A>G (p.Lys859Glu) n.236-5603A>G n.3998A>G n.3558A>G c.2566A>G (p.Lys856Glu) c.2434A>G (p.Lys812Glu) | dbSNP |
| 9 | g.97343508A>T | CA374158834 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2443A>T (p.Lys815Ter) n.2777A>T n.2646A>T n.539A>T c.2575A>T (p.Lys859Ter) n.236-5603A>T n.3998A>T n.3558A>T c.2566A>T (p.Lys856Ter) c.2434A>T (p.Lys812Ter) | |
| 9 | g.97343509A>C | CA374158835 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2444A>C (p.Lys815Thr) n.2778A>C n.2647A>C n.540A>C c.2576A>C (p.Lys859Thr) n.236-5602A>C n.3999A>C n.3559A>C c.2567A>C (p.Lys856Thr) c.2435A>C (p.Lys812Thr) | |
| 9 | g.97343509A>G | CA374158836 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2444A>G (p.Lys815Arg) n.2778A>G n.2647A>G n.540A>G c.2576A>G (p.Lys859Arg) n.236-5602A>G n.3999A>G n.3559A>G c.2567A>G (p.Lys856Arg) c.2435A>G (p.Lys812Arg) | gnomAD v4 |
| 9 | g.97343509A>T | CA374158837 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2444A>T (p.Lys815Met) n.2778A>T n.2647A>T n.540A>T c.2576A>T (p.Lys859Met) n.236-5602A>T n.3999A>T n.3559A>T c.2567A>T (p.Lys856Met) c.2435A>T (p.Lys812Met) | |
| 9 | g.97343510G>A | CA466159174 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2445G>A (p.Lys815=) n.2779G>A n.2648G>A n.541G>A c.2577G>A (p.Lys859=) n.236-5601G>A n.4000G>A n.3560G>A c.2568G>A (p.Lys856=) c.2436G>A (p.Lys812=) | |
| 9 | g.97343510G>C | CA374158838 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2445G>C (p.Lys815Asn) n.2779G>C n.2648G>C n.541G>C c.2577G>C (p.Lys859Asn) n.236-5601G>C n.4000G>C n.3560G>C c.2568G>C (p.Lys856Asn) c.2436G>C (p.Lys812Asn) | |
| 9 | g.97343510G>T | CA374158839 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2445G>T (p.Lys815Asn) n.2779G>T n.2648G>T n.541G>T c.2577G>T (p.Lys859Asn) n.236-5601G>T n.4000G>T n.3560G>T c.2568G>T (p.Lys856Asn) c.2436G>T (p.Lys812Asn) | |
| 9 | g.97343511T>A | CA374158840 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2446T>A (p.Phe816Ile) n.2780T>A n.2649T>A n.542T>A c.2578T>A (p.Phe860Ile) n.236-5600T>A n.4001T>A n.3561T>A c.2569T>A (p.Phe857Ile) c.2437T>A (p.Phe813Ile) | |
| 9 | g.97343511T>C | CA374158841 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2446T>C (p.Phe816Leu) n.2780T>C n.2649T>C n.542T>C c.2578T>C (p.Phe860Leu) n.236-5600T>C n.4001T>C n.3561T>C c.2569T>C (p.Phe857Leu) c.2437T>C (p.Phe813Leu) | |
| 9 | g.97343511T>G | CA374158842 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2446T>G (p.Phe816Val) n.2780T>G n.2649T>G n.542T>G c.2578T>G (p.Phe860Val) n.236-5600T>G n.4001T>G n.3561T>G c.2569T>G (p.Phe857Val) c.2437T>G (p.Phe813Val) | |
| 9 | g.97343512T>A | CA374158845 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2447T>A (p.Phe816Tyr) n.2781T>A n.2650T>A n.543T>A c.2579T>A (p.Phe860Tyr) n.236-5599T>A n.4002T>A n.3562T>A c.2570T>A (p.Phe857Tyr) c.2438T>A (p.Phe813Tyr) | |
| 9 | g.97343512T>C | CA374158844 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2447T>C (p.Phe816Ser) n.2781T>C n.2650T>C n.543T>C c.2579T>C (p.Phe860Ser) n.236-5599T>C n.4002T>C n.3562T>C c.2570T>C (p.Phe857Ser) c.2438T>C (p.Phe813Ser) | |
| 9 | g.97343512T>G | CA374158843 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2447T>G (p.Phe816Cys) n.2781T>G n.2650T>G n.543T>G c.2579T>G (p.Phe860Cys) n.236-5599T>G n.4002T>G n.3562T>G c.2570T>G (p.Phe857Cys) c.2438T>G (p.Phe813Cys) | |
| 9 | g.97343513C>A | CA374158846 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2448C>A (p.Phe816Leu) n.2782C>A n.2651C>A n.544C>A c.2580C>A (p.Phe860Leu) n.236-5598C>A n.4003C>A n.3563C>A c.2571C>A (p.Phe857Leu) c.2439C>A (p.Phe813Leu) | |
| 9 | g.97343513C>G | CA374158847 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2448C>G (p.Phe816Leu) n.2782C>G n.2651C>G n.544C>G c.2580C>G (p.Phe860Leu) n.236-5598C>G n.4003C>G n.3563C>G c.2571C>G (p.Phe857Leu) c.2439C>G (p.Phe813Leu) | |
| 9 | g.97343513C>T | CA466159186 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2448C>T (p.Phe816=) n.2782C>T n.2651C>T n.544C>T c.2580C>T (p.Phe860=) n.236-5598C>T n.4003C>T n.3563C>T c.2571C>T (p.Phe857=) c.2439C>T (p.Phe813=) | |
| 9 | g.97343514A= | CA1866473544 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2449A= (p.Ile817=) n.2783A= n.2652A= n.545A= c.2581A= (p.Ile861=) n.236-5597A= n.4004A= n.3564A= c.2572A= (p.Ile858=) c.2440A= (p.Ile814=) | |
| 9 | g.97343514A>C | CA374158848 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2449A>C (p.Ile817Leu) n.2783A>C n.2652A>C n.545A>C c.2581A>C (p.Ile861Leu) n.236-5597A>C n.4004A>C n.3564A>C c.2572A>C (p.Ile858Leu) c.2440A>C (p.Ile814Leu) | |
| 9 | g.97343514A>G | CA374158850 | CCDC180,SUGT1P4-STRA6LP-CCDC180 | c.2449A>G (p.Ile817Val) n.2783A>G n.2652A>G n.545A>G c.2581A>G (p.Ile861Val) n.236-5597A>G n.4004A>G n.3564A>G c.2572A>G (p.Ile858Val) c.2440A>G (p.Ile814Val) | dbSNP |