Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.97343386_97343413delCA2690872682CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343409G>ACA374158608CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343409G>CCA374158610CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343409G>TCA374158609CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343410G>ACA374158611CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343410G>CCA374158612CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343410G>TCA374158613CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343411A=CA1866473455CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343411A>CCA466158288CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343411A>GCA466158291CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343411A>TCA196691564CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343412A>CCA374158614CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343412A>GCA374158615CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343412A>TCA374158616CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343413A>CCA374158619CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343413A>GCA374158617CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343413A>TCA374158618CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343414C>ACA374158620CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343414C>GCA374158621CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343414C>TCA466158310CCDC180,SUGT1P4-STRA6LP-CCDC180c.2349C>T (p.Asn783=)
n.2683C>T
n.2552C>T
n.445C>T
c.2481C>T (p.Asn827=)
n.236-5697C>T
n.3904C>T
n.3464C>T
c.2472C>T (p.Asn824=)
c.2340C>T (p.Asn780=)
 gnomAD v4
9g.97343415A=CA1866473458CCDC180,SUGT1P4-STRA6LP-CCDC180c.2350A= (p.Thr784=)
n.2684A=
n.2553A=
n.446A=
c.2482A= (p.Thr828=)
n.236-5696A=
n.3905A=
n.3465A=
c.2473A= (p.Thr825=)
c.2341A= (p.Thr781=)
9g.97343415A>CCA374158622CCDC180,SUGT1P4-STRA6LP-CCDC180c.2350A>C (p.Thr784Pro)
n.2684A>C
n.2553A>C
n.446A>C
c.2482A>C (p.Thr828Pro)
n.236-5696A>C
n.3905A>C
n.3465A>C
c.2473A>C (p.Thr825Pro)
c.2341A>C (p.Thr781Pro)
 dbSNP gnomAD v3 gnomAD v4
9g.97343415A>GCA374158623CCDC180,SUGT1P4-STRA6LP-CCDC180c.2350A>G (p.Thr784Ala)
n.2684A>G
n.2553A>G
n.446A>G
c.2482A>G (p.Thr828Ala)
n.236-5696A>G
n.3905A>G
n.3465A>G
c.2473A>G (p.Thr825Ala)
c.2341A>G (p.Thr781Ala)
 gnomAD v4
9g.97343415A>TCA374158624CCDC180,SUGT1P4-STRA6LP-CCDC180c.2350A>T (p.Thr784Ser)
n.2684A>T
n.2553A>T
n.446A>T
c.2482A>T (p.Thr828Ser)
n.236-5696A>T
n.3905A>T
n.3465A>T
c.2473A>T (p.Thr825Ser)
c.2341A>T (p.Thr781Ser)
 dbSNP
9g.97343416C>ACA374158627CCDC180,SUGT1P4-STRA6LP-CCDC180c.2351C>A (p.Thr784Asn)
n.2685C>A
n.2554C>A
n.447C>A
c.2483C>A (p.Thr828Asn)
n.236-5695C>A
n.3906C>A
n.3466C>A
c.2474C>A (p.Thr825Asn)
c.2342C>A (p.Thr781Asn)
9g.97343416C>GCA374158625CCDC180,SUGT1P4-STRA6LP-CCDC180c.2351C>G (p.Thr784Ser)
n.2685C>G
n.2554C>G
n.447C>G
c.2483C>G (p.Thr828Ser)
n.236-5695C>G
n.3906C>G
n.3466C>G
c.2474C>G (p.Thr825Ser)
c.2342C>G (p.Thr781Ser)
9g.97343416C>TCA374158626CCDC180,SUGT1P4-STRA6LP-CCDC180c.2351C>T (p.Thr784Ile)
n.2685C>T
n.2554C>T
n.447C>T
c.2483C>T (p.Thr828Ile)
n.236-5695C>T
n.3906C>T
n.3466C>T
c.2474C>T (p.Thr825Ile)
c.2342C>T (p.Thr781Ile)
9g.97343417T>ACA466158339CCDC180,SUGT1P4-STRA6LP-CCDC180c.2352T>A (p.Thr784=)
n.2686T>A
n.2555T>A
n.448T>A
c.2484T>A (p.Thr828=)
n.236-5694T>A
n.3907T>A
n.3467T>A
c.2475T>A (p.Thr825=)
c.2343T>A (p.Thr781=)
9g.97343417T>CCA466158341CCDC180,SUGT1P4-STRA6LP-CCDC180c.2352T>C (p.Thr784=)
n.2686T>C
n.2555T>C
n.448T>C
c.2484T>C (p.Thr828=)
n.236-5694T>C
n.3907T>C
n.3467T>C
c.2475T>C (p.Thr825=)
c.2343T>C (p.Thr781=)
9g.97343417T>GCA196691569CCDC180,SUGT1P4-STRA6LP-CCDC180c.2352T>G (p.Thr784=)
n.2686T>G
n.2555T>G
n.448T>G
c.2484T>G (p.Thr828=)
n.236-5694T>G
n.3907T>G
n.3467T>G
c.2475T>G (p.Thr825=)
c.2343T>G (p.Thr781=)
 dbSNP gnomAD v3 gnomAD v4
9g.97343417T=CA1866473461CCDC180,SUGT1P4-STRA6LP-CCDC180c.2352T= (p.Thr784=)
n.2686T=
n.2555T=
n.448T=
c.2484T= (p.Thr828=)
n.236-5694T=
n.3907T=
n.3467T=
c.2475T= (p.Thr825=)
c.2343T= (p.Thr781=)
9g.97343418T>ACA374158628CCDC180,SUGT1P4-STRA6LP-CCDC180c.2353T>A (p.Tyr785Asn)
n.2687T>A
n.2556T>A
n.449T>A
c.2485T>A (p.Tyr829Asn)
n.236-5693T>A
n.3908T>A
n.3468T>A
c.2476T>A (p.Tyr826Asn)
c.2344T>A (p.Tyr782Asn)
9g.97343418T>CCA374158629CCDC180,SUGT1P4-STRA6LP-CCDC180c.2353T>C (p.Tyr785His)
n.2687T>C
n.2556T>C
n.449T>C
c.2485T>C (p.Tyr829His)
n.236-5693T>C
n.3908T>C
n.3468T>C
c.2476T>C (p.Tyr826His)
c.2344T>C (p.Tyr782His)
9g.97343418T>GCA374158630CCDC180,SUGT1P4-STRA6LP-CCDC180c.2353T>G (p.Tyr785Asp)
n.2687T>G
n.2556T>G
n.449T>G
c.2485T>G (p.Tyr829Asp)
n.236-5693T>G
n.3908T>G
n.3468T>G
c.2476T>G (p.Tyr826Asp)
c.2344T>G (p.Tyr782Asp)
9g.97343419A=CA1866473463CCDC180,SUGT1P4-STRA6LP-CCDC180c.2354A= (p.Tyr785=)
n.2688A=
n.2557A=
n.450A=
c.2486A= (p.Tyr829=)
n.236-5692A=
n.3909A=
n.3469A=
c.2477A= (p.Tyr826=)
c.2345A= (p.Tyr782=)
9g.97343419A>CCA5145561CCDC180,SUGT1P4-STRA6LP-CCDC180c.2354A>C (p.Tyr785Ser)
n.2688A>C
n.2557A>C
n.450A>C
c.2486A>C (p.Tyr829Ser)
n.236-5692A>C
n.3909A>C
n.3469A>C
c.2477A>C (p.Tyr826Ser)
c.2345A>C (p.Tyr782Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.97343419A>GCA374158631CCDC180,SUGT1P4-STRA6LP-CCDC180c.2354A>G (p.Tyr785Cys)
n.2688A>G
n.2557A>G
n.450A>G
c.2486A>G (p.Tyr829Cys)
n.236-5692A>G
n.3909A>G
n.3469A>G
c.2477A>G (p.Tyr826Cys)
c.2345A>G (p.Tyr782Cys)
9g.97343419A>TCA374158632CCDC180,SUGT1P4-STRA6LP-CCDC180c.2354A>T (p.Tyr785Phe)
n.2688A>T
n.2557A>T
n.450A>T
c.2486A>T (p.Tyr829Phe)
n.236-5692A>T
n.3909A>T
n.3469A>T
c.2477A>T (p.Tyr826Phe)
c.2345A>T (p.Tyr782Phe)
9g.97343420T>ACA374158633CCDC180,SUGT1P4-STRA6LP-CCDC180c.2355T>A (p.Tyr785Ter)
n.2689T>A
n.2558T>A
n.451T>A
c.2487T>A (p.Tyr829Ter)
n.236-5691T>A
n.3910T>A
n.3470T>A
c.2478T>A (p.Tyr826Ter)
c.2346T>A (p.Tyr782Ter)
9g.97343420T>CCA5145562CCDC180,SUGT1P4-STRA6LP-CCDC180c.2355T>C (p.Tyr785=)
n.2689T>C
n.2558T>C
n.451T>C
c.2487T>C (p.Tyr829=)
n.236-5691T>C
n.3910T>C
n.3470T>C
c.2478T>C (p.Tyr826=)
c.2346T>C (p.Tyr782=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.97343420T>GCA374158634CCDC180,SUGT1P4-STRA6LP-CCDC180c.2355T>G (p.Tyr785Ter)
n.2689T>G
n.2558T>G
n.451T>G
c.2487T>G (p.Tyr829Ter)
n.236-5691T>G
n.3910T>G
n.3470T>G
c.2478T>G (p.Tyr826Ter)
c.2346T>G (p.Tyr782Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.97343420T=CA1866473465CCDC180,SUGT1P4-STRA6LP-CCDC180c.2355T= (p.Tyr785=)
n.2689T=
n.2558T=
n.451T=
c.2487T= (p.Tyr829=)
n.236-5691T=
n.3910T=
n.3470T=
c.2478T= (p.Tyr826=)
c.2346T= (p.Tyr782=)
9g.97343421T>ACA374158635CCDC180,SUGT1P4-STRA6LP-CCDC180c.2356T>A (p.Phe786Ile)
n.2690T>A
n.2559T>A
n.452T>A
c.2488T>A (p.Phe830Ile)
n.236-5690T>A
n.3911T>A
n.3471T>A
c.2479T>A (p.Phe827Ile)
c.2347T>A (p.Phe783Ile)
9g.97343421T>CCA374158636CCDC180,SUGT1P4-STRA6LP-CCDC180c.2356T>C (p.Phe786Leu)
n.2690T>C
n.2559T>C
n.452T>C
c.2488T>C (p.Phe830Leu)
n.236-5690T>C
n.3911T>C
n.3471T>C
c.2479T>C (p.Phe827Leu)
c.2347T>C (p.Phe783Leu)
9g.97343421T>GCA374158637CCDC180,SUGT1P4-STRA6LP-CCDC180c.2356T>G (p.Phe786Val)
n.2690T>G
n.2559T>G
n.452T>G
c.2488T>G (p.Phe830Val)
n.236-5690T>G
n.3911T>G
n.3471T>G
c.2479T>G (p.Phe827Val)
c.2347T>G (p.Phe783Val)
9g.97343422T>ACA374158638CCDC180,SUGT1P4-STRA6LP-CCDC180c.2357T>A (p.Phe786Tyr)
n.2691T>A
n.2560T>A
n.453T>A
c.2489T>A (p.Phe830Tyr)
n.236-5689T>A
n.3912T>A
n.3472T>A
c.2480T>A (p.Phe827Tyr)
c.2348T>A (p.Phe783Tyr)
9g.97343422T>CCA5145563CCDC180,SUGT1P4-STRA6LP-CCDC180c.2357T>C (p.Phe786Ser)
n.2691T>C
n.2560T>C
n.453T>C
c.2489T>C (p.Phe830Ser)
n.236-5689T>C
n.3912T>C
n.3472T>C
c.2480T>C (p.Phe827Ser)
c.2348T>C (p.Phe783Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.97343422T>GCA374158639CCDC180,SUGT1P4-STRA6LP-CCDC180c.2357T>G (p.Phe786Cys)
n.2691T>G
n.2560T>G
n.453T>G
c.2489T>G (p.Phe830Cys)
n.236-5689T>G
n.3912T>G
n.3472T>G
c.2480T>G (p.Phe827Cys)
c.2348T>G (p.Phe783Cys)
9g.97343422T=CA1866473468CCDC180,SUGT1P4-STRA6LP-CCDC180c.2357T= (p.Phe786=)
n.2691T=
n.2560T=
n.453T=
c.2489T= (p.Phe830=)
n.236-5689T=
n.3912T=
n.3472T=
c.2480T= (p.Phe827=)
c.2348T= (p.Phe783=)
9g.97343423T>ACA374158640CCDC180,SUGT1P4-STRA6LP-CCDC180c.2358T>A (p.Phe786Leu)
n.2692T>A
n.2561T>A
n.454T>A
c.2490T>A (p.Phe830Leu)
n.236-5688T>A
n.3913T>A
n.3473T>A
c.2481T>A (p.Phe827Leu)
c.2349T>A (p.Phe783Leu)

Number of alleles fetched