Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
9g.97343423T>CCA466158372CCDC180,SUGT1P4-STRA6LP-CCDC180c.2358T>C (p.Phe786=)
n.2692T>C
n.2561T>C
n.454T>C
c.2490T>C (p.Phe830=)
n.236-5688T>C
n.3913T>C
n.3473T>C
c.2481T>C (p.Phe827=)
c.2349T>C (p.Phe783=)
9g.97343423T>GCA374158641CCDC180,SUGT1P4-STRA6LP-CCDC180c.2358T>G (p.Phe786Leu)
n.2692T>G
n.2561T>G
n.454T>G
c.2490T>G (p.Phe830Leu)
n.236-5688T>G
n.3913T>G
n.3473T>G
c.2481T>G (p.Phe827Leu)
c.2349T>G (p.Phe783Leu)
9g.97343424G>ACA374158642CCDC180,SUGT1P4-STRA6LP-CCDC180c.2359G>A (p.Val787Ile)
n.2693G>A
n.2562G>A
n.455G>A
c.2491G>A (p.Val831Ile)
n.236-5687G>A
n.3914G>A
n.3474G>A
c.2482G>A (p.Val828Ile)
c.2350G>A (p.Val784Ile)
 gnomAD v4
9g.97343424G>CCA374158643CCDC180,SUGT1P4-STRA6LP-CCDC180c.2359G>C (p.Val787Leu)
n.2693G>C
n.2562G>C
n.455G>C
c.2491G>C (p.Val831Leu)
n.236-5687G>C
n.3914G>C
n.3474G>C
c.2482G>C (p.Val828Leu)
c.2350G>C (p.Val784Leu)
9g.97343424G>TCA374158644CCDC180,SUGT1P4-STRA6LP-CCDC180c.2359G>T (p.Val787Phe)
n.2693G>T
n.2562G>T
n.455G>T
c.2491G>T (p.Val831Phe)
n.236-5687G>T
n.3914G>T
n.3474G>T
c.2482G>T (p.Val828Phe)
c.2350G>T (p.Val784Phe)
9g.97343425T>ACA374158645CCDC180,SUGT1P4-STRA6LP-CCDC180c.2360T>A (p.Val787Asp)
n.2694T>A
n.2563T>A
n.456T>A
c.2492T>A (p.Val831Asp)
n.236-5686T>A
n.3915T>A
n.3475T>A
c.2483T>A (p.Val828Asp)
c.2351T>A (p.Val784Asp)
9g.97343425T>CCA374158646CCDC180,SUGT1P4-STRA6LP-CCDC180c.2360T>C (p.Val787Ala)
n.2694T>C
n.2563T>C
n.456T>C
c.2492T>C (p.Val831Ala)
n.236-5686T>C
n.3915T>C
n.3475T>C
c.2483T>C (p.Val828Ala)
c.2351T>C (p.Val784Ala)
 gnomAD v4
9g.97343425T>GCA374158647CCDC180,SUGT1P4-STRA6LP-CCDC180c.2360T>G (p.Val787Gly)
n.2694T>G
n.2563T>G
n.456T>G
c.2492T>G (p.Val831Gly)
n.236-5686T>G
n.3915T>G
n.3475T>G
c.2483T>G (p.Val828Gly)
c.2351T>G (p.Val784Gly)
 dbSNP gnomAD v4
9g.97343425T=CA1866473470CCDC180,SUGT1P4-STRA6LP-CCDC180c.2360T= (p.Val787=)
n.2694T=
n.2563T=
n.456T=
c.2492T= (p.Val831=)
n.236-5686T=
n.3915T=
n.3475T=
c.2483T= (p.Val828=)
c.2351T= (p.Val784=)
9g.97343426C>ACA466158383CCDC180,SUGT1P4-STRA6LP-CCDC180c.2361C>A (p.Val787=)
n.2695C>A
n.2564C>A
n.457C>A
c.2493C>A (p.Val831=)
n.236-5685C>A
n.3916C>A
n.3476C>A
c.2484C>A (p.Val828=)
c.2352C>A (p.Val784=)
 COSMIC COSMIC
9g.97343426C>GCA466158385CCDC180,SUGT1P4-STRA6LP-CCDC180c.2361C>G (p.Val787=)
n.2695C>G
n.2564C>G
n.457C>G
c.2493C>G (p.Val831=)
n.236-5685C>G
n.3916C>G
n.3476C>G
c.2484C>G (p.Val828=)
c.2352C>G (p.Val784=)
9g.97343426C>TCA466158386CCDC180,SUGT1P4-STRA6LP-CCDC180c.2361C>T (p.Val787=)
n.2695C>T
n.2564C>T
n.457C>T
c.2493C>T (p.Val831=)
n.236-5685C>T
n.3916C>T
n.3476C>T
c.2484C>T (p.Val828=)
c.2352C>T (p.Val784=)
9g.97343427T>ACA374158648CCDC180,SUGT1P4-STRA6LP-CCDC180c.2362T>A (p.Phe788Ile)
n.2696T>A
n.2565T>A
n.458T>A
c.2494T>A (p.Phe832Ile)
n.236-5684T>A
n.3917T>A
n.3477T>A
c.2485T>A (p.Phe829Ile)
c.2353T>A (p.Phe785Ile)
9g.97343427T>CCA374158649CCDC180,SUGT1P4-STRA6LP-CCDC180c.2362T>C (p.Phe788Leu)
n.2696T>C
n.2565T>C
n.458T>C
c.2494T>C (p.Phe832Leu)
n.236-5684T>C
n.3917T>C
n.3477T>C
c.2485T>C (p.Phe829Leu)
c.2353T>C (p.Phe785Leu)
9g.97343427T>GCA374158650CCDC180,SUGT1P4-STRA6LP-CCDC180c.2362T>G (p.Phe788Val)
n.2696T>G
n.2565T>G
n.458T>G
c.2494T>G (p.Phe832Val)
n.236-5684T>G
n.3917T>G
n.3477T>G
c.2485T>G (p.Phe829Val)
c.2353T>G (p.Phe785Val)
9g.97343428T>ACA374158653CCDC180,SUGT1P4-STRA6LP-CCDC180c.2363T>A (p.Phe788Tyr)
n.2697T>A
n.2566T>A
n.459T>A
c.2495T>A (p.Phe832Tyr)
n.236-5683T>A
n.3918T>A
n.3478T>A
c.2486T>A (p.Phe829Tyr)
c.2354T>A (p.Phe785Tyr)
9g.97343428T>CCA374158652CCDC180,SUGT1P4-STRA6LP-CCDC180c.2363T>C (p.Phe788Ser)
n.2697T>C
n.2566T>C
n.459T>C
c.2495T>C (p.Phe832Ser)
n.236-5683T>C
n.3918T>C
n.3478T>C
c.2486T>C (p.Phe829Ser)
c.2354T>C (p.Phe785Ser)
 dbSNP gnomAD v4
9g.97343428T>GCA374158651CCDC180,SUGT1P4-STRA6LP-CCDC180c.2363T>G (p.Phe788Cys)
n.2697T>G
n.2566T>G
n.459T>G
c.2495T>G (p.Phe832Cys)
n.236-5683T>G
n.3918T>G
n.3478T>G
c.2486T>G (p.Phe829Cys)
c.2354T>G (p.Phe785Cys)
 dbSNP
9g.97343428T=CA1866473472CCDC180,SUGT1P4-STRA6LP-CCDC180c.2363T= (p.Phe788=)
n.2697T=
n.2566T=
n.459T=
c.2495T= (p.Phe832=)
n.236-5683T=
n.3918T=
n.3478T=
c.2486T= (p.Phe829=)
c.2354T= (p.Phe785=)
9g.97343429T>ACA374158654CCDC180,SUGT1P4-STRA6LP-CCDC180c.2364T>A (p.Phe788Leu)
n.2698T>A
n.2567T>A
n.460T>A
c.2496T>A (p.Phe832Leu)
n.236-5682T>A
n.3919T>A
n.3479T>A
c.2487T>A (p.Phe829Leu)
c.2355T>A (p.Phe785Leu)
9g.97343429T>CCA5145564CCDC180,SUGT1P4-STRA6LP-CCDC180c.2364T>C (p.Phe788=)
n.2698T>C
n.2567T>C
n.460T>C
c.2496T>C (p.Phe832=)
n.236-5682T>C
n.3919T>C
n.3479T>C
c.2487T>C (p.Phe829=)
c.2355T>C (p.Phe785=)
 dbSNP ExAC gnomAD v2
9g.97343429T>GCA374158655CCDC180,SUGT1P4-STRA6LP-CCDC180c.2364T>G (p.Phe788Leu)
n.2698T>G
n.2567T>G
n.460T>G
c.2496T>G (p.Phe832Leu)
n.236-5682T>G
n.3919T>G
n.3479T>G
c.2487T>G (p.Phe829Leu)
c.2355T>G (p.Phe785Leu)
9g.97343429T=CA1866473474CCDC180,SUGT1P4-STRA6LP-CCDC180c.2364T= (p.Phe788=)
n.2698T=
n.2567T=
n.460T=
c.2496T= (p.Phe832=)
n.236-5682T=
n.3919T=
n.3479T=
c.2487T= (p.Phe829=)
c.2355T= (p.Phe785=)
9g.97343430G>ACA374158656CCDC180,SUGT1P4-STRA6LP-CCDC180c.2365G>A (p.Val789Ile)
n.2699G>A
n.2568G>A
n.461G>A
c.2497G>A (p.Val833Ile)
n.236-5681G>A
n.3920G>A
n.3480G>A
c.2488G>A (p.Val830Ile)
c.2356G>A (p.Val786Ile)
 dbSNP gnomAD v4
9g.97343430G>CCA374158657CCDC180,SUGT1P4-STRA6LP-CCDC180c.2365G>C (p.Val789Leu)
n.2699G>C
n.2568G>C
n.461G>C
c.2497G>C (p.Val833Leu)
n.236-5681G>C
n.3920G>C
n.3480G>C
c.2488G>C (p.Val830Leu)
c.2356G>C (p.Val786Leu)
9g.97343430G=CA1866473476CCDC180,SUGT1P4-STRA6LP-CCDC180c.2365G= (p.Val789=)
n.2699G=
n.2568G=
n.461G=
c.2497G= (p.Val833=)
n.236-5681G=
n.3920G=
n.3480G=
c.2488G= (p.Val830=)
c.2356G= (p.Val786=)
9g.97343430G>TCA374158658CCDC180,SUGT1P4-STRA6LP-CCDC180c.2365G>T (p.Val789Leu)
n.2699G>T
n.2568G>T
n.461G>T
c.2497G>T (p.Val833Leu)
n.236-5681G>T
n.3920G>T
n.3480G>T
c.2488G>T (p.Val830Leu)
c.2356G>T (p.Val786Leu)
9g.97343431T>ACA374158659CCDC180,SUGT1P4-STRA6LP-CCDC180c.2366T>A (p.Val789Glu)
n.2700T>A
n.2569T>A
n.462T>A
c.2498T>A (p.Val833Glu)
n.236-5680T>A
n.3921T>A
n.3481T>A
c.2489T>A (p.Val830Glu)
c.2357T>A (p.Val786Glu)
9g.97343431T>CCA374158660CCDC180,SUGT1P4-STRA6LP-CCDC180c.2366T>C (p.Val789Ala)
n.2700T>C
n.2569T>C
n.462T>C
c.2498T>C (p.Val833Ala)
n.236-5680T>C
n.3921T>C
n.3481T>C
c.2489T>C (p.Val830Ala)
c.2357T>C (p.Val786Ala)
9g.97343431T>GCA374158661CCDC180,SUGT1P4-STRA6LP-CCDC180c.2366T>G (p.Val789Gly)
n.2700T>G
n.2569T>G
n.462T>G
c.2498T>G (p.Val833Gly)
n.236-5680T>G
n.3921T>G
n.3481T>G
c.2489T>G (p.Val830Gly)
c.2357T>G (p.Val786Gly)
9g.97343432A=CA1866473478CCDC180,SUGT1P4-STRA6LP-CCDC180c.2367A= (p.Val789=)
n.2701A=
n.2570A=
n.463A=
c.2499A= (p.Val833=)
n.236-5679A=
n.3922A=
n.3482A=
c.2490A= (p.Val830=)
c.2358A= (p.Val786=)
9g.97343432A>CCA466158410CCDC180,SUGT1P4-STRA6LP-CCDC180c.2367A>C (p.Val789=)
n.2701A>C
n.2570A>C
n.463A>C
c.2499A>C (p.Val833=)
n.236-5679A>C
n.3922A>C
n.3482A>C
c.2490A>C (p.Val830=)
c.2358A>C (p.Val786=)
9g.97343432A>GCA466158413CCDC180,SUGT1P4-STRA6LP-CCDC180c.2367A>G (p.Val789=)
n.2701A>G
n.2570A>G
n.463A>G
c.2499A>G (p.Val833=)
n.236-5679A>G
n.3922A>G
n.3482A>G
c.2490A>G (p.Val830=)
c.2358A>G (p.Val786=)
 dbSNP gnomAD v3 gnomAD v4
9g.97343432A>TCA466158416CCDC180,SUGT1P4-STRA6LP-CCDC180c.2367A>T (p.Val789=)
n.2701A>T
n.2570A>T
n.463A>T
c.2499A>T (p.Val833=)
n.236-5679A>T
n.3922A>T
n.3482A>T
c.2490A>T (p.Val830=)
c.2358A>T (p.Val786=)
9g.97343433C>ACA374158662CCDC180,SUGT1P4-STRA6LP-CCDC180c.2368C>A (p.Pro790Thr)
n.2702C>A
n.2571C>A
n.464C>A
c.2500C>A (p.Pro834Thr)
n.236-5678C>A
n.3923C>A
n.3483C>A
c.2491C>A (p.Pro831Thr)
c.2359C>A (p.Pro787Thr)
 gnomAD v4
9g.97343433C>GCA374158663CCDC180,SUGT1P4-STRA6LP-CCDC180c.2368C>G (p.Pro790Ala)
n.2702C>G
n.2571C>G
n.464C>G
c.2500C>G (p.Pro834Ala)
n.236-5678C>G
n.3923C>G
n.3483C>G
c.2491C>G (p.Pro831Ala)
c.2359C>G (p.Pro787Ala)
9g.97343433C>TCA374158664CCDC180,SUGT1P4-STRA6LP-CCDC180c.2368C>T (p.Pro790Ser)
n.2702C>T
n.2571C>T
n.464C>T
c.2500C>T (p.Pro834Ser)
n.236-5678C>T
n.3923C>T
n.3483C>T
c.2491C>T (p.Pro831Ser)
c.2359C>T (p.Pro787Ser)
9g.97343436delCA2579393609CCDC180,SUGT1P4-STRA6LP-CCDC180c.2371del (p.Leu791TrpfsTer27)
n.2705del
n.2574del
n.467del
c.2503del (p.Leu835TrpfsTer27)
n.236-5675del
n.3926del
n.3486del
c.2494del (p.Leu832TrpfsTer27)
c.2362del (p.Leu788TrpfsTer27)
9g.97343434C>ACA374158666CCDC180,SUGT1P4-STRA6LP-CCDC180c.2369C>A (p.Pro790His)
n.2703C>A
n.2572C>A
n.465C>A
c.2501C>A (p.Pro834His)
n.236-5677C>A
n.3924C>A
n.3484C>A
c.2492C>A (p.Pro831His)
c.2360C>A (p.Pro787His)
 dbSNP gnomAD v2 gnomAD v4
9g.97343434C=CA1866473480CCDC180,SUGT1P4-STRA6LP-CCDC180c.2369C= (p.Pro790=)
n.2703C=
n.2572C=
n.465C=
c.2501C= (p.Pro834=)
n.236-5677C=
n.3924C=
n.3484C=
c.2492C= (p.Pro831=)
c.2360C= (p.Pro787=)
9g.97343434C>GCA5145565CCDC180,SUGT1P4-STRA6LP-CCDC180c.2369C>G (p.Pro790Arg)
n.2703C>G
n.2572C>G
n.465C>G
c.2501C>G (p.Pro834Arg)
n.236-5677C>G
n.3924C>G
n.3484C>G
c.2492C>G (p.Pro831Arg)
c.2360C>G (p.Pro787Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.97343434C>TCA374158665CCDC180,SUGT1P4-STRA6LP-CCDC180c.2369C>T (p.Pro790Leu)
n.2703C>T
n.2572C>T
n.465C>T
c.2501C>T (p.Pro834Leu)
n.236-5677C>T
n.3924C>T
n.3484C>T
c.2492C>T (p.Pro831Leu)
c.2360C>T (p.Pro787Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.97343435C>ACA466158428CCDC180,SUGT1P4-STRA6LP-CCDC180c.2370C>A (p.Pro790=)
n.2704C>A
n.2573C>A
n.466C>A
c.2502C>A (p.Pro834=)
n.236-5676C>A
n.3925C>A
n.3485C>A
c.2493C>A (p.Pro831=)
c.2361C>A (p.Pro787=)
9g.97343435C=CA1866473482CCDC180,SUGT1P4-STRA6LP-CCDC180c.2370C= (p.Pro790=)
n.2704C=
n.2573C=
n.466C=
c.2502C= (p.Pro834=)
n.236-5676C=
n.3925C=
n.3485C=
c.2493C= (p.Pro831=)
c.2361C= (p.Pro787=)
9g.97343435C>GCA466158429CCDC180,SUGT1P4-STRA6LP-CCDC180c.2370C>G (p.Pro790=)
n.2704C>G
n.2573C>G
n.466C>G
c.2502C>G (p.Pro834=)
n.236-5676C>G
n.3925C>G
n.3485C>G
c.2493C>G (p.Pro831=)
c.2361C>G (p.Pro787=)
 dbSNP gnomAD v2 gnomAD v4
9g.97343435C>TCA5145566CCDC180,SUGT1P4-STRA6LP-CCDC180c.2370C>T (p.Pro790=)
n.2704C>T
n.2573C>T
n.466C>T
c.2502C>T (p.Pro834=)
n.236-5676C>T
n.3925C>T
n.3485C>T
c.2493C>T (p.Pro831=)
c.2361C>T (p.Pro787=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.97343436C>ACA374158667CCDC180,SUGT1P4-STRA6LP-CCDC180c.2371C>A (p.Leu791Met)
n.2705C>A
n.2574C>A
n.467C>A
c.2503C>A (p.Leu835Met)
n.236-5675C>A
n.3926C>A
n.3486C>A
c.2494C>A (p.Leu832Met)
c.2362C>A (p.Leu788Met)
9g.97343436C>GCA374158668CCDC180,SUGT1P4-STRA6LP-CCDC180c.2371C>G (p.Leu791Val)
n.2705C>G
n.2574C>G
n.467C>G
c.2503C>G (p.Leu835Val)
n.236-5675C>G
n.3926C>G
n.3486C>G
c.2494C>G (p.Leu832Val)
c.2362C>G (p.Leu788Val)
9g.97343436C>TCA466158431CCDC180,SUGT1P4-STRA6LP-CCDC180c.2371C>T (p.Leu791=)
n.2705C>T
n.2574C>T
n.467C>T
c.2503C>T (p.Leu835=)
n.236-5675C>T
n.3926C>T
n.3486C>T
c.2494C>T (p.Leu832=)
c.2362C>T (p.Leu788=)
9g.97343437T>ACA374158669CCDC180,SUGT1P4-STRA6LP-CCDC180c.2372T>A (p.Leu791Gln)
n.2706T>A
n.2575T>A
n.468T>A
c.2504T>A (p.Leu835Gln)
n.236-5674T>A
n.3927T>A
n.3487T>A
c.2495T>A (p.Leu832Gln)
c.2363T>A (p.Leu788Gln)
9g.97343437T>CCA374158670CCDC180,SUGT1P4-STRA6LP-CCDC180c.2372T>C (p.Leu791Pro)
n.2706T>C
n.2575T>C
n.468T>C
c.2504T>C (p.Leu835Pro)
n.236-5674T>C
n.3927T>C
n.3487T>C
c.2495T>C (p.Leu832Pro)
c.2363T>C (p.Leu788Pro)
9g.97343437T>GCA374158671CCDC180,SUGT1P4-STRA6LP-CCDC180c.2372T>G (p.Leu791Arg)
n.2706T>G
n.2575T>G
n.468T>G
c.2504T>G (p.Leu835Arg)
n.236-5674T>G
n.3927T>G
n.3487T>G
c.2495T>G (p.Leu832Arg)
c.2363T>G (p.Leu788Arg)
9g.97343438G>ACA466158437CCDC180,SUGT1P4-STRA6LP-CCDC180c.2373G>A (p.Leu791=)
n.2707G>A
n.2576G>A
n.469G>A
c.2505G>A (p.Leu835=)
n.236-5673G>A
n.3928G>A
n.3488G>A
c.2496G>A (p.Leu832=)
c.2364G>A (p.Leu788=)
 gnomAD v4
9g.97343438G>CCA466158440CCDC180,SUGT1P4-STRA6LP-CCDC180c.2373G>C (p.Leu791=)
n.2707G>C
n.2576G>C
n.469G>C
c.2505G>C (p.Leu835=)
n.236-5673G>C
n.3928G>C
n.3488G>C
c.2496G>C (p.Leu832=)
c.2364G>C (p.Leu788=)
9g.97343438G>TCA466158442CCDC180,SUGT1P4-STRA6LP-CCDC180c.2373G>T (p.Leu791=)
n.2707G>T
n.2576G>T
n.469G>T
c.2505G>T (p.Leu835=)
n.236-5673G>T
n.3928G>T
n.3488G>T
c.2496G>T (p.Leu832=)
c.2364G>T (p.Leu788=)
9g.97343439G>ACA5145567CCDC180,SUGT1P4-STRA6LP-CCDC180c.2374G>A (p.Glu792Lys)
n.2708G>A
n.2577G>A
n.470G>A
c.2506G>A (p.Glu836Lys)
n.236-5672G>A
n.3929G>A
n.3489G>A
c.2497G>A (p.Glu833Lys)
c.2365G>A (p.Glu789Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.97343439G>CCA374158672CCDC180,SUGT1P4-STRA6LP-CCDC180c.2374G>C (p.Glu792Gln)
n.2708G>C
n.2577G>C
n.470G>C
c.2506G>C (p.Glu836Gln)
n.236-5672G>C
n.3929G>C
n.3489G>C
c.2497G>C (p.Glu833Gln)
c.2365G>C (p.Glu789Gln)
9g.97343439G=CA1866473484CCDC180,SUGT1P4-STRA6LP-CCDC180c.2374G= (p.Glu792=)
n.2708G=
n.2577G=
n.470G=
c.2506G= (p.Glu836=)
n.236-5672G=
n.3929G=
n.3489G=
c.2497G= (p.Glu833=)
c.2365G= (p.Glu789=)
9g.97343439G>TCA374158673CCDC180,SUGT1P4-STRA6LP-CCDC180c.2374G>T (p.Glu792Ter)
n.2708G>T
n.2577G>T
n.470G>T
c.2506G>T (p.Glu836Ter)
n.236-5672G>T
n.3929G>T
n.3489G>T
c.2497G>T (p.Glu833Ter)
c.2365G>T (p.Glu789Ter)
9g.97343440A>CCA374158676CCDC180,SUGT1P4-STRA6LP-CCDC180c.2375A>C (p.Glu792Ala)
n.2709A>C
n.2578A>C
n.471A>C
c.2507A>C (p.Glu836Ala)
n.236-5671A>C
n.3930A>C
n.3490A>C
c.2498A>C (p.Glu833Ala)
c.2366A>C (p.Glu789Ala)
9g.97343440A>GCA374158674CCDC180,SUGT1P4-STRA6LP-CCDC180c.2375A>G (p.Glu792Gly)
n.2709A>G
n.2578A>G
n.471A>G
c.2507A>G (p.Glu836Gly)
n.236-5671A>G
n.3930A>G
n.3490A>G
c.2498A>G (p.Glu833Gly)
c.2366A>G (p.Glu789Gly)
9g.97343440A>TCA374158675CCDC180,SUGT1P4-STRA6LP-CCDC180c.2375A>T (p.Glu792Val)
n.2709A>T
n.2578A>T
n.471A>T
c.2507A>T (p.Glu836Val)
n.236-5671A>T
n.3930A>T
n.3490A>T
c.2498A>T (p.Glu833Val)
c.2366A>T (p.Glu789Val)
9g.97343440_97343441insGCACA2566726821CCDC180,SUGT1P4-STRA6LP-CCDC180c.2375_2376insGCA (p.Glu792_Glu793insGln)
n.2709_2710insGCA
n.2578_2579insGCA
n.471_472insGCA
c.2507_2508insGCA (p.Glu836_Glu837insGln)
n.236-5671_236-5670insGCA
n.3930_3931insGCA
n.3490_3491insGCA
c.2498_2499insGCA (p.Glu833_Glu834insGln)
c.2366_2367insGCA (p.Glu789_Glu790insGln)
9g.97343441A=CA1866473486CCDC180,SUGT1P4-STRA6LP-CCDC180c.2376A= (p.Glu792=)
n.2710A=
n.2579A=
n.472A=
c.2508A= (p.Glu836=)
n.236-5670A=
n.3931A=
n.3491A=
c.2499A= (p.Glu833=)
c.2367A= (p.Glu789=)
9g.97343441A>CCA374158677CCDC180,SUGT1P4-STRA6LP-CCDC180c.2376A>C (p.Glu792Asp)
n.2710A>C
n.2579A>C
n.472A>C
c.2508A>C (p.Glu836Asp)
n.236-5670A>C
n.3931A>C
n.3491A>C
c.2499A>C (p.Glu833Asp)
c.2367A>C (p.Glu789Asp)
9g.97343441A>GCA466158464CCDC180,SUGT1P4-STRA6LP-CCDC180c.2376A>G (p.Glu792=)
n.2710A>G
n.2579A>G
n.472A>G
c.2508A>G (p.Glu836=)
n.236-5670A>G
n.3931A>G
n.3491A>G
c.2499A>G (p.Glu833=)
c.2367A>G (p.Glu789=)
 dbSNP
9g.97343441A>TCA374158678CCDC180,SUGT1P4-STRA6LP-CCDC180c.2376A>T (p.Glu792Asp)
n.2710A>T
n.2579A>T
n.472A>T
c.2508A>T (p.Glu836Asp)
n.236-5670A>T
n.3931A>T
n.3491A>T
c.2499A>T (p.Glu833Asp)
c.2367A>T (p.Glu789Asp)
9g.97343442G>ACA374158679CCDC180,SUGT1P4-STRA6LP-CCDC180c.2377G>A (p.Glu793Lys)
n.2711G>A
n.2580G>A
n.473G>A
c.2509G>A (p.Glu837Lys)
n.236-5669G>A
n.3932G>A
n.3492G>A
c.2500G>A (p.Glu834Lys)
c.2368G>A (p.Glu790Lys)
 gnomAD v4
9g.97343442G>CCA374158680CCDC180,SUGT1P4-STRA6LP-CCDC180c.2377G>C (p.Glu793Gln)
n.2711G>C
n.2580G>C
n.473G>C
c.2509G>C (p.Glu837Gln)
n.236-5669G>C
n.3932G>C
n.3492G>C
c.2500G>C (p.Glu834Gln)
c.2368G>C (p.Glu790Gln)
9g.97343442G>TCA374158681CCDC180,SUGT1P4-STRA6LP-CCDC180c.2377G>T (p.Glu793Ter)
n.2711G>T
n.2580G>T
n.473G>T
c.2509G>T (p.Glu837Ter)
n.236-5669G>T
n.3932G>T
n.3492G>T
c.2500G>T (p.Glu834Ter)
c.2368G>T (p.Glu790Ter)
9g.97343443A>CCA374158682CCDC180,SUGT1P4-STRA6LP-CCDC180c.2378A>C (p.Glu793Ala)
n.2712A>C
n.2581A>C
n.474A>C
c.2510A>C (p.Glu837Ala)
n.236-5668A>C
n.3933A>C
n.3493A>C
c.2501A>C (p.Glu834Ala)
c.2369A>C (p.Glu790Ala)
9g.97343443A>GCA374158684CCDC180,SUGT1P4-STRA6LP-CCDC180c.2378A>G (p.Glu793Gly)
n.2712A>G
n.2581A>G
n.474A>G
c.2510A>G (p.Glu837Gly)
n.236-5668A>G
n.3933A>G
n.3493A>G
c.2501A>G (p.Glu834Gly)
c.2369A>G (p.Glu790Gly)
9g.97343443A>TCA374158683CCDC180,SUGT1P4-STRA6LP-CCDC180c.2378A>T (p.Glu793Val)
n.2712A>T
n.2581A>T
n.474A>T
c.2510A>T (p.Glu837Val)
n.236-5668A>T
n.3933A>T
n.3493A>T
c.2501A>T (p.Glu834Val)
c.2369A>T (p.Glu790Val)
9g.97343444A=CA1866473488CCDC180,SUGT1P4-STRA6LP-CCDC180c.2379A= (p.Glu793=)
n.2713A=
n.2582A=
n.475A=
c.2511A= (p.Glu837=)
n.236-5667A=
n.3934A=
n.3494A=
c.2502A= (p.Glu834=)
c.2370A= (p.Glu790=)
9g.97343444A>CCA374158685CCDC180,SUGT1P4-STRA6LP-CCDC180c.2379A>C (p.Glu793Asp)
n.2713A>C
n.2582A>C
n.475A>C
c.2511A>C (p.Glu837Asp)
n.236-5667A>C
n.3934A>C
n.3494A>C
c.2502A>C (p.Glu834Asp)
c.2370A>C (p.Glu790Asp)
9g.97343444A>GCA196691617CCDC180,SUGT1P4-STRA6LP-CCDC180c.2379A>G (p.Glu793=)
n.2713A>G
n.2582A>G
n.475A>G
c.2511A>G (p.Glu837=)
n.236-5667A>G
n.3934A>G
n.3494A>G
c.2502A>G (p.Glu834=)
c.2370A>G (p.Glu790=)
 dbSNP gnomAD v3 gnomAD v4
9g.97343444A>TCA374158686CCDC180,SUGT1P4-STRA6LP-CCDC180c.2379A>T (p.Glu793Asp)
n.2713A>T
n.2582A>T
n.475A>T
c.2511A>T (p.Glu837Asp)
n.236-5667A>T
n.3934A>T
n.3494A>T
c.2502A>T (p.Glu834Asp)
c.2370A>T (p.Glu790Asp)
9g.97343445G>ACA374158687CCDC180,SUGT1P4-STRA6LP-CCDC180c.2380G>A (p.Glu794Lys)
n.2714G>A
n.2583G>A
n.476G>A
c.2512G>A (p.Glu838Lys)
n.236-5666G>A
n.3935G>A
n.3495G>A
c.2503G>A (p.Glu835Lys)
c.2371G>A (p.Glu791Lys)
 gnomAD v4
9g.97343445G>CCA374158688CCDC180,SUGT1P4-STRA6LP-CCDC180c.2380G>C (p.Glu794Gln)
n.2714G>C
n.2583G>C
n.476G>C
c.2512G>C (p.Glu838Gln)
n.236-5666G>C
n.3935G>C
n.3495G>C
c.2503G>C (p.Glu835Gln)
c.2371G>C (p.Glu791Gln)
9g.97343445G>TCA374158689CCDC180,SUGT1P4-STRA6LP-CCDC180c.2380G>T (p.Glu794Ter)
n.2714G>T
n.2583G>T
n.476G>T
c.2512G>T (p.Glu838Ter)
n.236-5666G>T
n.3935G>T
n.3495G>T
c.2503G>T (p.Glu835Ter)
c.2371G>T (p.Glu791Ter)
9g.97343446A>CCA374158690CCDC180,SUGT1P4-STRA6LP-CCDC180c.2381A>C (p.Glu794Ala)
n.2715A>C
n.2584A>C
n.477A>C
c.2513A>C (p.Glu838Ala)
n.236-5665A>C
n.3936A>C
n.3496A>C
c.2504A>C (p.Glu835Ala)
c.2372A>C (p.Glu791Ala)
9g.97343446A>GCA374158691CCDC180,SUGT1P4-STRA6LP-CCDC180c.2381A>G (p.Glu794Gly)
n.2715A>G
n.2584A>G
n.477A>G
c.2513A>G (p.Glu838Gly)
n.236-5665A>G
n.3936A>G
n.3496A>G
c.2504A>G (p.Glu835Gly)
c.2372A>G (p.Glu791Gly)
9g.97343446A>TCA374158692CCDC180,SUGT1P4-STRA6LP-CCDC180c.2381A>T (p.Glu794Val)
n.2715A>T
n.2584A>T
n.477A>T
c.2513A>T (p.Glu838Val)
n.236-5665A>T
n.3936A>T
n.3496A>T
c.2504A>T (p.Glu835Val)
c.2372A>T (p.Glu791Val)
9g.97343447G>ACA466158502CCDC180,SUGT1P4-STRA6LP-CCDC180c.2382G>A (p.Glu794=)
n.2716G>A
n.2585G>A
n.478G>A
c.2514G>A (p.Glu838=)
n.236-5664G>A
n.3937G>A
n.3497G>A
c.2505G>A (p.Glu835=)
c.2373G>A (p.Glu791=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.97343447G>CCA374158693CCDC180,SUGT1P4-STRA6LP-CCDC180c.2382G>C (p.Glu794Asp)
n.2716G>C
n.2585G>C
n.478G>C
c.2514G>C (p.Glu838Asp)
n.236-5664G>C
n.3937G>C
n.3497G>C
c.2505G>C (p.Glu835Asp)
c.2373G>C (p.Glu791Asp)
9g.97343447G=CA1866473490CCDC180,SUGT1P4-STRA6LP-CCDC180c.2382G= (p.Glu794=)
n.2716G=
n.2585G=
n.478G=
c.2514G= (p.Glu838=)
n.236-5664G=
n.3937G=
n.3497G=
c.2505G= (p.Glu835=)
c.2373G= (p.Glu791=)
9g.97343447G>TCA374158694CCDC180,SUGT1P4-STRA6LP-CCDC180c.2382G>T (p.Glu794Asp)
n.2716G>T
n.2585G>T
n.478G>T
c.2514G>T (p.Glu838Asp)
n.236-5664G>T
n.3937G>T
n.3497G>T
c.2505G>T (p.Glu835Asp)
c.2373G>T (p.Glu791Asp)
9g.97343447_97343448insAGTATCACA2534493310CCDC180,SUGT1P4-STRA6LP-CCDC180c.2382_2383insAGTATCA (p.His795SerfsTer5)
n.2716_2717insAGTATCA
n.2585_2586insAGTATCA
n.478_479insAGTATCA
c.2514_2515insAGTATCA (p.His839SerfsTer5)
n.236-5664_236-5663insAGTATCA
n.3937_3938insAGTATCA
n.3497_3498insAGTATCA
c.2505_2506insAGTATCA (p.His836SerfsTer5)
c.2373_2374insAGTATCA (p.His792SerfsTer5)
9g.97343448C>ACA374158697CCDC180,SUGT1P4-STRA6LP-CCDC180c.2383C>A (p.His795Asn)
n.2717C>A
n.2586C>A
n.479C>A
c.2515C>A (p.His839Asn)
n.236-5663C>A
n.3938C>A
n.3498C>A
c.2506C>A (p.His836Asn)
c.2374C>A (p.His792Asn)
9g.97343448C>GCA374158696CCDC180,SUGT1P4-STRA6LP-CCDC180c.2383C>G (p.His795Asp)
n.2717C>G
n.2586C>G
n.479C>G
c.2515C>G (p.His839Asp)
n.236-5663C>G
n.3938C>G
n.3498C>G
c.2506C>G (p.His836Asp)
c.2374C>G (p.His792Asp)
9g.97343448C>TCA374158695CCDC180,SUGT1P4-STRA6LP-CCDC180c.2383C>T (p.His795Tyr)
n.2717C>T
n.2586C>T
n.479C>T
c.2515C>T (p.His839Tyr)
n.236-5663C>T
n.3938C>T
n.3498C>T
c.2506C>T (p.His836Tyr)
c.2374C>T (p.His792Tyr)
9g.97343449A>CCA374158698CCDC180,SUGT1P4-STRA6LP-CCDC180c.2384A>C (p.His795Pro)
n.2718A>C
n.2587A>C
n.480A>C
c.2516A>C (p.His839Pro)
n.236-5662A>C
n.3939A>C
n.3499A>C
c.2507A>C (p.His836Pro)
c.2375A>C (p.His792Pro)
9g.97343449A>GCA374158699CCDC180,SUGT1P4-STRA6LP-CCDC180c.2384A>G (p.His795Arg)
n.2718A>G
n.2587A>G
n.480A>G
c.2516A>G (p.His839Arg)
n.236-5662A>G
n.3939A>G
n.3499A>G
c.2507A>G (p.His836Arg)
c.2375A>G (p.His792Arg)
 gnomAD v4 COSMIC COSMIC COSMIC
9g.97343449A>TCA374158700CCDC180,SUGT1P4-STRA6LP-CCDC180c.2384A>T (p.His795Leu)
n.2718A>T
n.2587A>T
n.480A>T
c.2516A>T (p.His839Leu)
n.236-5662A>T
n.3939A>T
n.3499A>T
c.2507A>T (p.His836Leu)
c.2375A>T (p.His792Leu)
9g.97343450T>ACA374158701CCDC180,SUGT1P4-STRA6LP-CCDC180c.2385T>A (p.His795Gln)
n.2719T>A
n.2588T>A
n.481T>A
c.2517T>A (p.His839Gln)
n.236-5661T>A
n.3940T>A
n.3500T>A
c.2508T>A (p.His836Gln)
c.2376T>A (p.His792Gln)
9g.97343450T>CCA466158521CCDC180,SUGT1P4-STRA6LP-CCDC180c.2385T>C (p.His795=)
n.2719T>C
n.2588T>C
n.481T>C
c.2517T>C (p.His839=)
n.236-5661T>C
n.3940T>C
n.3500T>C
c.2508T>C (p.His836=)
c.2376T>C (p.His792=)
 dbSNP gnomAD v3 gnomAD v4
9g.97343450T>GCA374158702CCDC180,SUGT1P4-STRA6LP-CCDC180c.2385T>G (p.His795Gln)
n.2719T>G
n.2588T>G
n.481T>G
c.2517T>G (p.His839Gln)
n.236-5661T>G
n.3940T>G
n.3500T>G
c.2508T>G (p.His836Gln)
c.2376T>G (p.His792Gln)
9g.97343450T=CA1866473492CCDC180,SUGT1P4-STRA6LP-CCDC180c.2385T= (p.His795=)
n.2719T=
n.2588T=
n.481T=
c.2517T= (p.His839=)
n.236-5661T=
n.3940T=
n.3500T=
c.2508T= (p.His836=)
c.2376T= (p.His792=)
9g.97343451T>ACA374158703CCDC180,SUGT1P4-STRA6LP-CCDC180c.2386T>A (p.Cys796Ser)
n.2720T>A
n.2589T>A
n.482T>A
c.2518T>A (p.Cys840Ser)
n.236-5660T>A
n.3941T>A
n.3501T>A
c.2509T>A (p.Cys837Ser)
c.2377T>A (p.Cys793Ser)
9g.97343451T>CCA374158704CCDC180,SUGT1P4-STRA6LP-CCDC180c.2386T>C (p.Cys796Arg)
n.2720T>C
n.2589T>C
n.482T>C
c.2518T>C (p.Cys840Arg)
n.236-5660T>C
n.3941T>C
n.3501T>C
c.2509T>C (p.Cys837Arg)
c.2377T>C (p.Cys793Arg)
9g.97343451T>GCA374158705CCDC180,SUGT1P4-STRA6LP-CCDC180c.2386T>G (p.Cys796Gly)
n.2720T>G
n.2589T>G
n.482T>G
c.2518T>G (p.Cys840Gly)
n.236-5660T>G
n.3941T>G
n.3501T>G
c.2509T>G (p.Cys837Gly)
c.2377T>G (p.Cys793Gly)
9g.97343452G>ACA374158706CCDC180,SUGT1P4-STRA6LP-CCDC180c.2387G>A (p.Cys796Tyr)
n.2721G>A
n.2590G>A
n.483G>A
c.2519G>A (p.Cys840Tyr)
n.236-5659G>A
n.3942G>A
n.3502G>A
c.2510G>A (p.Cys837Tyr)
c.2378G>A (p.Cys793Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.97343452G>CCA374158707CCDC180,SUGT1P4-STRA6LP-CCDC180c.2387G>C (p.Cys796Ser)
n.2721G>C
n.2590G>C
n.483G>C
c.2519G>C (p.Cys840Ser)
n.236-5659G>C
n.3942G>C
n.3502G>C
c.2510G>C (p.Cys837Ser)
c.2378G>C (p.Cys793Ser)
9g.97343452G=CA1866473494CCDC180,SUGT1P4-STRA6LP-CCDC180c.2387G= (p.Cys796=)
n.2721G=
n.2590G=
n.483G=
c.2519G= (p.Cys840=)
n.236-5659G=
n.3942G=
n.3502G=
c.2510G= (p.Cys837=)
c.2378G= (p.Cys793=)
9g.97343452G>TCA374158708CCDC180,SUGT1P4-STRA6LP-CCDC180c.2387G>T (p.Cys796Phe)
n.2721G>T
n.2590G>T
n.483G>T
c.2519G>T (p.Cys840Phe)
n.236-5659G>T
n.3942G>T
n.3502G>T
c.2510G>T (p.Cys837Phe)
c.2378G>T (p.Cys793Phe)
9g.97343453T>ACA374158709CCDC180,SUGT1P4-STRA6LP-CCDC180c.2388T>A (p.Cys796Ter)
n.2722T>A
n.2591T>A
n.484T>A
c.2520T>A (p.Cys840Ter)
n.236-5658T>A
n.3943T>A
n.3503T>A
c.2511T>A (p.Cys837Ter)
c.2379T>A (p.Cys793Ter)
 gnomAD v4
9g.97343453T>CCA5145568CCDC180,SUGT1P4-STRA6LP-CCDC180c.2388T>C (p.Cys796=)
n.2722T>C
n.2591T>C
n.484T>C
c.2520T>C (p.Cys840=)
n.236-5658T>C
n.3943T>C
n.3503T>C
c.2511T>C (p.Cys837=)
c.2379T>C (p.Cys793=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.97343453T>GCA374158710CCDC180,SUGT1P4-STRA6LP-CCDC180c.2388T>G (p.Cys796Trp)
n.2722T>G
n.2591T>G
n.484T>G
c.2520T>G (p.Cys840Trp)
n.236-5658T>G
n.3943T>G
n.3503T>G
c.2511T>G (p.Cys837Trp)
c.2379T>G (p.Cys793Trp)
9g.97343453T=CA1866473497CCDC180,SUGT1P4-STRA6LP-CCDC180c.2388T= (p.Cys796=)
n.2722T=
n.2591T=
n.484T=
c.2520T= (p.Cys840=)
n.236-5658T=
n.3943T=
n.3503T=
c.2511T= (p.Cys837=)
c.2379T= (p.Cys793=)
9g.97343453_97343454insGGAATGGGACTTCCTGCAATGCTCTTCTTCCCA2690872710CCDC180,SUGT1P4-STRA6LP-CCDC180c.2388_2389insGGAATGGGACTTCCTGCAATGCTCTTCTTCC (p.Arg797GlyfsTer?)
n.2722_2723insGGAATGGGACTTCCTGCAATGCTCTTCTTCC
n.2591_2592insGGAATGGGACTTCCTGCAATGCTCTTCTTCC
n.484_485insGGAATGGGACTTCCTGCAATGCTCTTCTTCC
c.2520_2521insGGAATGGGACTTCCTGCAATGCTCTTCTTCC (p.Arg841GlyfsTer?)
n.236-5658_236-5657insGGAATGGGACTTCCTGCAATGCTCTTCTTCC
n.3943_3944insGGAATGGGACTTCCTGCAATGCTCTTCTTCC
n.3503_3504insGGAATGGGACTTCCTGCAATGCTCTTCTTCC
c.2511_2512insGGAATGGGACTTCCTGCAATGCTCTTCTTCC (p.Arg838GlyfsTer?)
c.2379_2380insGGAATGGGACTTCCTGCAATGCTCTTCTTCC (p.Arg794GlyfsTer?)
 gnomAD v4
9g.97343454A=CA1866473500CCDC180,SUGT1P4-STRA6LP-CCDC180c.2389A= (p.Arg797=)
n.2723A=
n.2592A=
n.485A=
c.2521A= (p.Arg841=)
n.236-5657A=
n.3944A=
n.3504A=
c.2512A= (p.Arg838=)
c.2380A= (p.Arg794=)
9g.97343454A>CCA466158549CCDC180,SUGT1P4-STRA6LP-CCDC180c.2389A>C (p.Arg797=)
n.2723A>C
n.2592A>C
n.485A>C
c.2521A>C (p.Arg841=)
n.236-5657A>C
n.3944A>C
n.3504A>C
c.2512A>C (p.Arg838=)
c.2380A>C (p.Arg794=)
9g.97343454A>GCA5145569CCDC180,SUGT1P4-STRA6LP-CCDC180c.2389A>G (p.Arg797Gly)
n.2723A>G
n.2592A>G
n.485A>G
c.2521A>G (p.Arg841Gly)
n.236-5657A>G
n.3944A>G
n.3504A>G
c.2512A>G (p.Arg838Gly)
c.2380A>G (p.Arg794Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.97343454A>TCA374158711CCDC180,SUGT1P4-STRA6LP-CCDC180c.2389A>T (p.Arg797Trp)
n.2723A>T
n.2592A>T
n.485A>T
c.2521A>T (p.Arg841Trp)
n.236-5657A>T
n.3944A>T
n.3504A>T
c.2512A>T (p.Arg838Trp)
c.2380A>T (p.Arg794Trp)
9g.97343455G>ACA374158712CCDC180,SUGT1P4-STRA6LP-CCDC180c.2390G>A (p.Arg797Lys)
n.2724G>A
n.2593G>A
n.486G>A
c.2522G>A (p.Arg841Lys)
n.236-5656G>A
n.3945G>A
n.3505G>A
c.2513G>A (p.Arg838Lys)
c.2381G>A (p.Arg794Lys)
9g.97343455G>CCA374158713CCDC180,SUGT1P4-STRA6LP-CCDC180c.2390G>C (p.Arg797Thr)
n.2724G>C
n.2593G>C
n.486G>C
c.2522G>C (p.Arg841Thr)
n.236-5656G>C
n.3945G>C
n.3505G>C
c.2513G>C (p.Arg838Thr)
c.2381G>C (p.Arg794Thr)
9g.97343455G>TCA374158714CCDC180,SUGT1P4-STRA6LP-CCDC180c.2390G>T (p.Arg797Met)
n.2724G>T
n.2593G>T
n.486G>T
c.2522G>T (p.Arg841Met)
n.236-5656G>T
n.3945G>T
n.3505G>T
c.2513G>T (p.Arg838Met)
c.2381G>T (p.Arg794Met)
9g.97343456G>ACA466158568CCDC180,SUGT1P4-STRA6LP-CCDC180c.2391G>A (p.Arg797=)
n.2725G>A
n.2594G>A
n.487G>A
c.2523G>A (p.Arg841=)
n.236-5655G>A
n.3946G>A
n.3506G>A
c.2514G>A (p.Arg838=)
c.2382G>A (p.Arg794=)
 dbSNP gnomAD v2
9g.97343456G>CCA374158715CCDC180,SUGT1P4-STRA6LP-CCDC180c.2391G>C (p.Arg797Ser)
n.2725G>C
n.2594G>C
n.487G>C
c.2523G>C (p.Arg841Ser)
n.236-5655G>C
n.3946G>C
n.3506G>C
c.2514G>C (p.Arg838Ser)
c.2382G>C (p.Arg794Ser)
9g.97343456G=CA1866473502CCDC180,SUGT1P4-STRA6LP-CCDC180c.2391G= (p.Arg797=)
n.2725G=
n.2594G=
n.487G=
c.2523G= (p.Arg841=)
n.236-5655G=
n.3946G=
n.3506G=
c.2514G= (p.Arg838=)
c.2382G= (p.Arg794=)
9g.97343456G>TCA374158716CCDC180,SUGT1P4-STRA6LP-CCDC180c.2391G>T (p.Arg797Ser)
n.2725G>T
n.2594G>T
n.487G>T
c.2523G>T (p.Arg841Ser)
n.236-5655G>T
n.3946G>T
n.3506G>T
c.2514G>T (p.Arg838Ser)
c.2382G>T (p.Arg794Ser)
9g.97343457A>CCA374158717CCDC180,SUGT1P4-STRA6LP-CCDC180c.2392A>C (p.Lys798Gln)
n.2726A>C
n.2595A>C
n.488A>C
c.2524A>C (p.Lys842Gln)
n.236-5654A>C
n.3947A>C
n.3507A>C
c.2515A>C (p.Lys839Gln)
c.2383A>C (p.Lys795Gln)
9g.97343457A>GCA374158718CCDC180,SUGT1P4-STRA6LP-CCDC180c.2392A>G (p.Lys798Glu)
n.2726A>G
n.2595A>G
n.488A>G
c.2524A>G (p.Lys842Glu)
n.236-5654A>G
n.3947A>G
n.3507A>G
c.2515A>G (p.Lys839Glu)
c.2383A>G (p.Lys795Glu)
9g.97343457A>TCA374158719CCDC180,SUGT1P4-STRA6LP-CCDC180c.2392A>T (p.Lys798Ter)
n.2726A>T
n.2595A>T
n.488A>T
c.2524A>T (p.Lys842Ter)
n.236-5654A>T
n.3947A>T
n.3507A>T
c.2515A>T (p.Lys839Ter)
c.2383A>T (p.Lys795Ter)
 gnomAD v4
9g.97343458A>CCA374158720CCDC180,SUGT1P4-STRA6LP-CCDC180c.2393A>C (p.Lys798Thr)
n.2727A>C
n.2596A>C
n.489A>C
c.2525A>C (p.Lys842Thr)
n.236-5653A>C
n.3948A>C
n.3508A>C
c.2516A>C (p.Lys839Thr)
c.2384A>C (p.Lys795Thr)
9g.97343458A>GCA374158721CCDC180,SUGT1P4-STRA6LP-CCDC180c.2393A>G (p.Lys798Arg)
n.2727A>G
n.2596A>G
n.489A>G
c.2525A>G (p.Lys842Arg)
n.236-5653A>G
n.3948A>G
n.3508A>G
c.2516A>G (p.Lys839Arg)
c.2384A>G (p.Lys795Arg)
9g.97343458A>TCA374158722CCDC180,SUGT1P4-STRA6LP-CCDC180c.2393A>T (p.Lys798Met)
n.2727A>T
n.2596A>T
n.489A>T
c.2525A>T (p.Lys842Met)
n.236-5653A>T
n.3948A>T
n.3508A>T
c.2516A>T (p.Lys839Met)
c.2384A>T (p.Lys795Met)
9g.97343459G>ACA466158584CCDC180,SUGT1P4-STRA6LP-CCDC180c.2394G>A (p.Lys798=)
n.2728G>A
n.2597G>A
n.490G>A
c.2526G>A (p.Lys842=)
n.236-5652G>A
n.3949G>A
n.3509G>A
c.2517G>A (p.Lys839=)
c.2385G>A (p.Lys795=)
9g.97343459G>CCA374158723CCDC180,SUGT1P4-STRA6LP-CCDC180c.2394G>C (p.Lys798Asn)
n.2728G>C
n.2597G>C
n.490G>C
c.2526G>C (p.Lys842Asn)
n.236-5652G>C
n.3949G>C
n.3509G>C
c.2517G>C (p.Lys839Asn)
c.2385G>C (p.Lys795Asn)
 gnomAD v4
9g.97343459G>TCA374158724CCDC180,SUGT1P4-STRA6LP-CCDC180c.2394G>T (p.Lys798Asn)
n.2728G>T
n.2597G>T
n.490G>T
c.2526G>T (p.Lys842Asn)
n.236-5652G>T
n.3949G>T
n.3509G>T
c.2517G>T (p.Lys839Asn)
c.2385G>T (p.Lys795Asn)
9g.97343460T>ACA374158726CCDC180,SUGT1P4-STRA6LP-CCDC180c.2395T>A (p.Ser799Thr)
n.2729T>A
n.2598T>A
n.491T>A
c.2527T>A (p.Ser843Thr)
n.236-5651T>A
n.3950T>A
n.3510T>A
c.2518T>A (p.Ser840Thr)
c.2386T>A (p.Ser796Thr)
9g.97343460T>CCA374158727CCDC180,SUGT1P4-STRA6LP-CCDC180c.2395T>C (p.Ser799Pro)
n.2729T>C
n.2598T>C
n.491T>C
c.2527T>C (p.Ser843Pro)
n.236-5651T>C
n.3950T>C
n.3510T>C
c.2518T>C (p.Ser840Pro)
c.2386T>C (p.Ser796Pro)
9g.97343460T>GCA374158725CCDC180,SUGT1P4-STRA6LP-CCDC180c.2395T>G (p.Ser799Ala)
n.2729T>G
n.2598T>G
n.491T>G
c.2527T>G (p.Ser843Ala)
n.236-5651T>G
n.3950T>G
n.3510T>G
c.2518T>G (p.Ser840Ala)
c.2386T>G (p.Ser796Ala)
9g.97343461C>ACA374158728CCDC180,SUGT1P4-STRA6LP-CCDC180c.2396C>A (p.Ser799Tyr)
n.2730C>A
n.2599C>A
n.492C>A
c.2528C>A (p.Ser843Tyr)
n.236-5650C>A
n.3951C>A
n.3511C>A
c.2519C>A (p.Ser840Tyr)
c.2387C>A (p.Ser796Tyr)
9g.97343461C=CA1866473505CCDC180,SUGT1P4-STRA6LP-CCDC180c.2396C= (p.Ser799=)
n.2730C=
n.2599C=
n.492C=
c.2528C= (p.Ser843=)
n.236-5650C=
n.3951C=
n.3511C=
c.2519C= (p.Ser840=)
c.2387C= (p.Ser796=)
9g.97343461C>GCA374158730CCDC180,SUGT1P4-STRA6LP-CCDC180c.2396C>G (p.Ser799Cys)
n.2730C>G
n.2599C>G
n.492C>G
c.2528C>G (p.Ser843Cys)
n.236-5650C>G
n.3951C>G
n.3511C>G
c.2519C>G (p.Ser840Cys)
c.2387C>G (p.Ser796Cys)
 dbSNP gnomAD v2 gnomAD v4
9g.97343461C>TCA374158729CCDC180,SUGT1P4-STRA6LP-CCDC180c.2396C>T (p.Ser799Phe)
n.2730C>T
n.2599C>T
n.492C>T
c.2528C>T (p.Ser843Phe)
n.236-5650C>T
n.3951C>T
n.3511C>T
c.2519C>T (p.Ser840Phe)
c.2387C>T (p.Ser796Phe)
9g.97343462C>ACA466158606CCDC180,SUGT1P4-STRA6LP-CCDC180c.2397C>A (p.Ser799=)
n.2731C>A
n.2600C>A
n.493C>A
c.2529C>A (p.Ser843=)
n.236-5649C>A
n.3952C>A
n.3512C>A
c.2520C>A (p.Ser840=)
c.2388C>A (p.Ser796=)
 gnomAD v4
9g.97343462C=CA1866473507CCDC180,SUGT1P4-STRA6LP-CCDC180c.2397C= (p.Ser799=)
n.2731C=
n.2600C=
n.493C=
c.2529C= (p.Ser843=)
n.236-5649C=
n.3952C=
n.3512C=
c.2520C= (p.Ser840=)
c.2388C= (p.Ser796=)
9g.97343462C>GCA466158600CCDC180,SUGT1P4-STRA6LP-CCDC180c.2397C>G (p.Ser799=)
n.2731C>G
n.2600C>G
n.493C>G
c.2529C>G (p.Ser843=)
n.236-5649C>G
n.3952C>G
n.3512C>G
c.2520C>G (p.Ser840=)
c.2388C>G (p.Ser796=)
 dbSNP gnomAD v3 gnomAD v4
9g.97343462C>TCA466158603CCDC180,SUGT1P4-STRA6LP-CCDC180c.2397C>T (p.Ser799=)
n.2731C>T
n.2600C>T
n.493C>T
c.2529C>T (p.Ser843=)
n.236-5649C>T
n.3952C>T
n.3512C>T
c.2520C>T (p.Ser840=)
c.2388C>T (p.Ser796=)
 gnomAD v4
9g.97343463C>ACA374158731CCDC180,SUGT1P4-STRA6LP-CCDC180c.2398C>A (p.His800Asn)
n.2732C>A
n.2601C>A
n.494C>A
c.2530C>A (p.His844Asn)
n.236-5648C>A
n.3953C>A
n.3513C>A
c.2521C>A (p.His841Asn)
c.2389C>A (p.His797Asn)
9g.97343463C>GCA374158732CCDC180,SUGT1P4-STRA6LP-CCDC180c.2398C>G (p.His800Asp)
n.2732C>G
n.2601C>G
n.494C>G
c.2530C>G (p.His844Asp)
n.236-5648C>G
n.3953C>G
n.3513C>G
c.2521C>G (p.His841Asp)
c.2389C>G (p.His797Asp)
9g.97343463C>TCA374158733CCDC180,SUGT1P4-STRA6LP-CCDC180c.2398C>T (p.His800Tyr)
n.2732C>T
n.2601C>T
n.494C>T
c.2530C>T (p.His844Tyr)
n.236-5648C>T
n.3953C>T
n.3513C>T
c.2521C>T (p.His841Tyr)
c.2389C>T (p.His797Tyr)
9g.97343464A=CA1866473509CCDC180,SUGT1P4-STRA6LP-CCDC180c.2399A= (p.His800=)
n.2733A=
n.2602A=
n.495A=
c.2531A= (p.His844=)
n.236-5647A=
n.3954A=
n.3514A=
c.2522A= (p.His841=)
c.2390A= (p.His797=)
9g.97343464A>CCA374158734CCDC180,SUGT1P4-STRA6LP-CCDC180c.2399A>C (p.His800Pro)
n.2733A>C
n.2602A>C
n.495A>C
c.2531A>C (p.His844Pro)
n.236-5647A>C
n.3954A>C
n.3514A>C
c.2522A>C (p.His841Pro)
c.2390A>C (p.His797Pro)
9g.97343464A>GCA374158735CCDC180,SUGT1P4-STRA6LP-CCDC180c.2399A>G (p.His800Arg)
n.2733A>G
n.2602A>G
n.495A>G
c.2531A>G (p.His844Arg)
n.236-5647A>G
n.3954A>G
n.3514A>G
c.2522A>G (p.His841Arg)
c.2390A>G (p.His797Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.97343464A>TCA374158736CCDC180,SUGT1P4-STRA6LP-CCDC180c.2399A>T (p.His800Leu)
n.2733A>T
n.2602A>T
n.495A>T
c.2531A>T (p.His844Leu)
n.236-5647A>T
n.3954A>T
n.3514A>T
c.2522A>T (p.His841Leu)
c.2390A>T (p.His797Leu)
 dbSNP gnomAD v4
9g.97343465T>ACA374158737CCDC180,SUGT1P4-STRA6LP-CCDC180c.2400T>A (p.His800Gln)
n.2734T>A
n.2603T>A
n.496T>A
c.2532T>A (p.His844Gln)
n.236-5646T>A
n.3955T>A
n.3515T>A
c.2523T>A (p.His841Gln)
c.2391T>A (p.His797Gln)
9g.97343465T>CCA466158620CCDC180,SUGT1P4-STRA6LP-CCDC180c.2400T>C (p.His800=)
n.2734T>C
n.2603T>C
n.496T>C
c.2532T>C (p.His844=)
n.236-5646T>C
n.3955T>C
n.3515T>C
c.2523T>C (p.His841=)
c.2391T>C (p.His797=)
9g.97343465T>GCA374158738CCDC180,SUGT1P4-STRA6LP-CCDC180c.2400T>G (p.His800Gln)
n.2734T>G
n.2603T>G
n.496T>G
c.2532T>G (p.His844Gln)
n.236-5646T>G
n.3955T>G
n.3515T>G
c.2523T>G (p.His841Gln)
c.2391T>G (p.His797Gln)
9g.97343466T>ACA374158739CCDC180,SUGT1P4-STRA6LP-CCDC180c.2401T>A (p.Ser801Thr)
n.2735T>A
n.2604T>A
n.497T>A
c.2533T>A (p.Ser845Thr)
n.236-5645T>A
n.3956T>A
n.3516T>A
c.2524T>A (p.Ser842Thr)
c.2392T>A (p.Ser798Thr)
9g.97343466T>CCA374158740CCDC180,SUGT1P4-STRA6LP-CCDC180c.2401T>C (p.Ser801Pro)
n.2735T>C
n.2604T>C
n.497T>C
c.2533T>C (p.Ser845Pro)
n.236-5645T>C
n.3956T>C
n.3516T>C
c.2524T>C (p.Ser842Pro)
c.2392T>C (p.Ser798Pro)
9g.97343466T>GCA374158741CCDC180,SUGT1P4-STRA6LP-CCDC180c.2401T>G (p.Ser801Ala)
n.2735T>G
n.2604T>G
n.497T>G
c.2533T>G (p.Ser845Ala)
n.236-5645T>G
n.3956T>G
n.3516T>G
c.2524T>G (p.Ser842Ala)
c.2392T>G (p.Ser798Ala)
9g.97343467C>ACA374158744CCDC180,SUGT1P4-STRA6LP-CCDC180c.2402C>A (p.Ser801Tyr)
n.2736C>A
n.2605C>A
n.498C>A
c.2534C>A (p.Ser845Tyr)
n.236-5644C>A
n.3957C>A
n.3517C>A
c.2525C>A (p.Ser842Tyr)
c.2393C>A (p.Ser798Tyr)
9g.97343467C>GCA374158743CCDC180,SUGT1P4-STRA6LP-CCDC180c.2402C>G (p.Ser801Cys)
n.2736C>G
n.2605C>G
n.498C>G
c.2534C>G (p.Ser845Cys)
n.236-5644C>G
n.3957C>G
n.3517C>G
c.2525C>G (p.Ser842Cys)
c.2393C>G (p.Ser798Cys)
9g.97343467C>TCA374158742CCDC180,SUGT1P4-STRA6LP-CCDC180c.2402C>T (p.Ser801Phe)
n.2736C>T
n.2605C>T
n.498C>T
c.2534C>T (p.Ser845Phe)
n.236-5644C>T
n.3957C>T
n.3517C>T
c.2525C>T (p.Ser842Phe)
c.2393C>T (p.Ser798Phe)
9g.97343468C>ACA466158634CCDC180,SUGT1P4-STRA6LP-CCDC180c.2403C>A (p.Ser801=)
n.2737C>A
n.2606C>A
n.499C>A
c.2535C>A (p.Ser845=)
n.236-5643C>A
n.3958C>A
n.3518C>A
c.2526C>A (p.Ser842=)
c.2394C>A (p.Ser798=)
9g.97343468C>GCA466158636CCDC180,SUGT1P4-STRA6LP-CCDC180c.2403C>G (p.Ser801=)
n.2737C>G
n.2606C>G
n.499C>G
c.2535C>G (p.Ser845=)
n.236-5643C>G
n.3958C>G
n.3518C>G
c.2526C>G (p.Ser842=)
c.2394C>G (p.Ser798=)
9g.97343468C>TCA466158637CCDC180,SUGT1P4-STRA6LP-CCDC180c.2403C>T (p.Ser801=)
n.2737C>T
n.2606C>T
n.499C>T
c.2535C>T (p.Ser845=)
n.236-5643C>T
n.3958C>T
n.3518C>T
c.2526C>T (p.Ser842=)
c.2394C>T (p.Ser798=)
9g.97343469A>CCA374158745CCDC180,SUGT1P4-STRA6LP-CCDC180c.2404A>C (p.Thr802Pro)
n.2738A>C
n.2607A>C
n.500A>C
c.2536A>C (p.Thr846Pro)
n.236-5642A>C
n.3959A>C
n.3519A>C
c.2527A>C (p.Thr843Pro)
c.2395A>C (p.Thr799Pro)
 COSMIC COSMIC COSMIC
9g.97343469A>GCA374158746CCDC180,SUGT1P4-STRA6LP-CCDC180c.2404A>G (p.Thr802Ala)
n.2738A>G
n.2607A>G
n.500A>G
c.2536A>G (p.Thr846Ala)
n.236-5642A>G
n.3959A>G
n.3519A>G
c.2527A>G (p.Thr843Ala)
c.2395A>G (p.Thr799Ala)
9g.97343469A>TCA374158747CCDC180,SUGT1P4-STRA6LP-CCDC180c.2404A>T (p.Thr802Ser)
n.2738A>T
n.2607A>T
n.500A>T
c.2536A>T (p.Thr846Ser)
n.236-5642A>T
n.3959A>T
n.3519A>T
c.2527A>T (p.Thr843Ser)
c.2395A>T (p.Thr799Ser)
9g.97343470C>ACA374158748CCDC180,SUGT1P4-STRA6LP-CCDC180c.2405C>A (p.Thr802Asn)
n.2739C>A
n.2608C>A
n.501C>A
c.2537C>A (p.Thr846Asn)
n.236-5641C>A
n.3960C>A
n.3520C>A
c.2528C>A (p.Thr843Asn)
c.2396C>A (p.Thr799Asn)
9g.97343470C>GCA374158749CCDC180,SUGT1P4-STRA6LP-CCDC180c.2405C>G (p.Thr802Ser)
n.2739C>G
n.2608C>G
n.501C>G
c.2537C>G (p.Thr846Ser)
n.236-5641C>G
n.3960C>G
n.3520C>G
c.2528C>G (p.Thr843Ser)
c.2396C>G (p.Thr799Ser)
9g.97343470C>TCA374158750CCDC180,SUGT1P4-STRA6LP-CCDC180c.2405C>T (p.Thr802Ile)
n.2739C>T
n.2608C>T
n.501C>T
c.2537C>T (p.Thr846Ile)
n.236-5641C>T
n.3960C>T
n.3520C>T
c.2528C>T (p.Thr843Ile)
c.2396C>T (p.Thr799Ile)
9g.97343471C>ACA466158646CCDC180,SUGT1P4-STRA6LP-CCDC180c.2406C>A (p.Thr802=)
n.2740C>A
n.2609C>A
n.502C>A
c.2538C>A (p.Thr846=)
n.236-5640C>A
n.3961C>A
n.3521C>A
c.2529C>A (p.Thr843=)
c.2397C>A (p.Thr799=)
 dbSNP
9g.97343471C=CA1866473512CCDC180,SUGT1P4-STRA6LP-CCDC180c.2406C= (p.Thr802=)
n.2740C=
n.2609C=
n.502C=
c.2538C= (p.Thr846=)
n.236-5640C=
n.3961C=
n.3521C=
c.2529C= (p.Thr843=)
c.2397C= (p.Thr799=)
9g.97343471C>GCA5145570CCDC180,SUGT1P4-STRA6LP-CCDC180c.2406C>G (p.Thr802=)
n.2740C>G
n.2609C>G
n.502C>G
c.2538C>G (p.Thr846=)
n.236-5640C>G
n.3961C>G
n.3521C>G
c.2529C>G (p.Thr843=)
c.2397C>G (p.Thr799=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.97343471C>TCA466158648CCDC180,SUGT1P4-STRA6LP-CCDC180c.2406C>T (p.Thr802=)
n.2740C>T
n.2609C>T
n.502C>T
c.2538C>T (p.Thr846=)
n.236-5640C>T
n.3961C>T
n.3521C>T
c.2529C>T (p.Thr843=)
c.2397C>T (p.Thr799=)
 dbSNP gnomAD v4
9g.97343472T>ACA374158751CCDC180,SUGT1P4-STRA6LP-CCDC180c.2407T>A (p.Phe803Ile)
n.2741T>A
n.2610T>A
n.503T>A
c.2539T>A (p.Phe847Ile)
n.236-5639T>A
n.3962T>A
n.3522T>A
c.2530T>A (p.Phe844Ile)
c.2398T>A (p.Phe800Ile)
9g.97343472T>CCA374158752CCDC180,SUGT1P4-STRA6LP-CCDC180c.2407T>C (p.Phe803Leu)
n.2741T>C
n.2610T>C
n.503T>C
c.2539T>C (p.Phe847Leu)
n.236-5639T>C
n.3962T>C
n.3522T>C
c.2530T>C (p.Phe844Leu)
c.2398T>C (p.Phe800Leu)
9g.97343472T>GCA374158753CCDC180,SUGT1P4-STRA6LP-CCDC180c.2407T>G (p.Phe803Val)
n.2741T>G
n.2610T>G
n.503T>G
c.2539T>G (p.Phe847Val)
n.236-5639T>G
n.3962T>G
n.3522T>G
c.2530T>G (p.Phe844Val)
c.2398T>G (p.Phe800Val)
9g.97343473T>ACA374158754CCDC180,SUGT1P4-STRA6LP-CCDC180c.2408T>A (p.Phe803Tyr)
n.2742T>A
n.2611T>A
n.504T>A
c.2540T>A (p.Phe847Tyr)
n.236-5638T>A
n.3963T>A
n.3523T>A
c.2531T>A (p.Phe844Tyr)
c.2399T>A (p.Phe800Tyr)
9g.97343473T>CCA374158755CCDC180,SUGT1P4-STRA6LP-CCDC180c.2408T>C (p.Phe803Ser)
n.2742T>C
n.2611T>C
n.504T>C
c.2540T>C (p.Phe847Ser)
n.236-5638T>C
n.3963T>C
n.3523T>C
c.2531T>C (p.Phe844Ser)
c.2399T>C (p.Phe800Ser)
 gnomAD v4
9g.97343473T>GCA374158756CCDC180,SUGT1P4-STRA6LP-CCDC180c.2408T>G (p.Phe803Cys)
n.2742T>G
n.2611T>G
n.504T>G
c.2540T>G (p.Phe847Cys)
n.236-5638T>G
n.3963T>G
n.3523T>G
c.2531T>G (p.Phe844Cys)
c.2399T>G (p.Phe800Cys)
9g.97343474C>ACA374158758CCDC180,SUGT1P4-STRA6LP-CCDC180c.2409C>A (p.Phe803Leu)
n.2743C>A
n.2612C>A
n.505C>A
c.2541C>A (p.Phe847Leu)
n.236-5637C>A
n.3964C>A
n.3524C>A
c.2532C>A (p.Phe844Leu)
c.2400C>A (p.Phe800Leu)
9g.97343474C>GCA374158757CCDC180,SUGT1P4-STRA6LP-CCDC180c.2409C>G (p.Phe803Leu)
n.2743C>G
n.2612C>G
n.505C>G
c.2541C>G (p.Phe847Leu)
n.236-5637C>G
n.3964C>G
n.3524C>G
c.2532C>G (p.Phe844Leu)
c.2400C>G (p.Phe800Leu)
9g.97343474C>TCA466159055CCDC180,SUGT1P4-STRA6LP-CCDC180c.2409C>T (p.Phe803=)
n.2743C>T
n.2612C>T
n.505C>T
c.2541C>T (p.Phe847=)
n.236-5637C>T
n.3964C>T
n.3524C>T
c.2532C>T (p.Phe844=)
c.2400C>T (p.Phe800=)
9g.97343475T>ACA374158759CCDC180,SUGT1P4-STRA6LP-CCDC180c.2410T>A (p.Ser804Thr)
n.2744T>A
n.2613T>A
n.506T>A
c.2542T>A (p.Ser848Thr)
n.236-5636T>A
n.3965T>A
n.3525T>A
c.2533T>A (p.Ser845Thr)
c.2401T>A (p.Ser801Thr)
9g.97343475T>CCA374158760CCDC180,SUGT1P4-STRA6LP-CCDC180c.2410T>C (p.Ser804Pro)
n.2744T>C
n.2613T>C
n.506T>C
c.2542T>C (p.Ser848Pro)
n.236-5636T>C
n.3965T>C
n.3525T>C
c.2533T>C (p.Ser845Pro)
c.2401T>C (p.Ser801Pro)
9g.97343475T>GCA374158761CCDC180,SUGT1P4-STRA6LP-CCDC180c.2410T>G (p.Ser804Ala)
n.2744T>G
n.2613T>G
n.506T>G
c.2542T>G (p.Ser848Ala)
n.236-5636T>G
n.3965T>G
n.3525T>G
c.2533T>G (p.Ser845Ala)
c.2401T>G (p.Ser801Ala)
9g.97343476C>ACA374158762CCDC180,SUGT1P4-STRA6LP-CCDC180c.2411C>A (p.Ser804Ter)
n.2745C>A
n.2614C>A
n.507C>A
c.2543C>A (p.Ser848Ter)
n.236-5635C>A
n.3966C>A
n.3526C>A
c.2534C>A (p.Ser845Ter)
c.2402C>A (p.Ser801Ter)
9g.97343476C>GCA374158763CCDC180,SUGT1P4-STRA6LP-CCDC180c.2411C>G (p.Ser804Ter)
n.2745C>G
n.2614C>G
n.507C>G
c.2543C>G (p.Ser848Ter)
n.236-5635C>G
n.3966C>G
n.3526C>G
c.2534C>G (p.Ser845Ter)
c.2402C>G (p.Ser801Ter)
9g.97343476C>TCA374158764CCDC180,SUGT1P4-STRA6LP-CCDC180c.2411C>T (p.Ser804Leu)
n.2745C>T
n.2614C>T
n.507C>T
c.2543C>T (p.Ser848Leu)
n.236-5635C>T
n.3966C>T
n.3526C>T
c.2534C>T (p.Ser845Leu)
c.2402C>T (p.Ser801Leu)
 gnomAD v4
9g.97343477A>CCA466159061CCDC180,SUGT1P4-STRA6LP-CCDC180c.2412A>C (p.Ser804=)
n.2746A>C
n.2615A>C
n.508A>C
c.2544A>C (p.Ser848=)
n.236-5634A>C
n.3967A>C
n.3527A>C
c.2535A>C (p.Ser845=)
c.2403A>C (p.Ser801=)
 gnomAD v4
9g.97343477A>GCA466159063CCDC180,SUGT1P4-STRA6LP-CCDC180c.2412A>G (p.Ser804=)
n.2746A>G
n.2615A>G
n.508A>G
c.2544A>G (p.Ser848=)
n.236-5634A>G
n.3967A>G
n.3527A>G
c.2535A>G (p.Ser845=)
c.2403A>G (p.Ser801=)
9g.97343477A>TCA466159065CCDC180,SUGT1P4-STRA6LP-CCDC180c.2412A>T (p.Ser804=)
n.2746A>T
n.2615A>T
n.508A>T
c.2544A>T (p.Ser848=)
n.236-5634A>T
n.3967A>T
n.3527A>T
c.2535A>T (p.Ser845=)
c.2403A>T (p.Ser801=)
9g.97343478G>ACA374158767CCDC180,SUGT1P4-STRA6LP-CCDC180c.2413G>A (p.Ala805Thr)
n.2747G>A
n.2616G>A
n.509G>A
c.2545G>A (p.Ala849Thr)
n.236-5633G>A
n.3968G>A
n.3528G>A
c.2536G>A (p.Ala846Thr)
c.2404G>A (p.Ala802Thr)
9g.97343478G>CCA374158766CCDC180,SUGT1P4-STRA6LP-CCDC180c.2413G>C (p.Ala805Pro)
n.2747G>C
n.2616G>C
n.509G>C
c.2545G>C (p.Ala849Pro)
n.236-5633G>C
n.3968G>C
n.3528G>C
c.2536G>C (p.Ala846Pro)
c.2404G>C (p.Ala802Pro)
9g.97343478G>TCA374158765CCDC180,SUGT1P4-STRA6LP-CCDC180c.2413G>T (p.Ala805Ser)
n.2747G>T
n.2616G>T
n.509G>T
c.2545G>T (p.Ala849Ser)
n.236-5633G>T
n.3968G>T
n.3528G>T
c.2536G>T (p.Ala846Ser)
c.2404G>T (p.Ala802Ser)
 gnomAD v3 gnomAD v4
9g.97343479C>ACA374158768CCDC180,SUGT1P4-STRA6LP-CCDC180c.2414C>A (p.Ala805Asp)
n.2748C>A
n.2617C>A
n.510C>A
c.2546C>A (p.Ala849Asp)
n.236-5632C>A
n.3969C>A
n.3529C>A
c.2537C>A (p.Ala846Asp)
c.2405C>A (p.Ala802Asp)
 gnomAD v4
9g.97343479C=CA1866473514CCDC180,SUGT1P4-STRA6LP-CCDC180c.2414C= (p.Ala805=)
n.2748C=
n.2617C=
n.510C=
c.2546C= (p.Ala849=)
n.236-5632C=
n.3969C=
n.3529C=
c.2537C= (p.Ala846=)
c.2405C= (p.Ala802=)
9g.97343479C>GCA374158769CCDC180,SUGT1P4-STRA6LP-CCDC180c.2414C>G (p.Ala805Gly)
n.2748C>G
n.2617C>G
n.510C>G
c.2546C>G (p.Ala849Gly)
n.236-5632C>G
n.3969C>G
n.3529C>G
c.2537C>G (p.Ala846Gly)
c.2405C>G (p.Ala802Gly)
9g.97343479C>TCA196691636CCDC180,SUGT1P4-STRA6LP-CCDC180c.2414C>T (p.Ala805Val)
n.2748C>T
n.2617C>T
n.510C>T
c.2546C>T (p.Ala849Val)
n.236-5632C>T
n.3969C>T
n.3529C>T
c.2537C>T (p.Ala846Val)
c.2405C>T (p.Ala802Val)
 dbSNP gnomAD v2 gnomAD v4
9g.97343480C>ACA466159077CCDC180,SUGT1P4-STRA6LP-CCDC180c.2415C>A (p.Ala805=)
n.2749C>A
n.2618C>A
n.511C>A
c.2547C>A (p.Ala849=)
n.236-5631C>A
n.3970C>A
n.3530C>A
c.2538C>A (p.Ala846=)
c.2406C>A (p.Ala802=)
9g.97343480C>GCA466159079CCDC180,SUGT1P4-STRA6LP-CCDC180c.2415C>G (p.Ala805=)
n.2749C>G
n.2618C>G
n.511C>G
c.2547C>G (p.Ala849=)
n.236-5631C>G
n.3970C>G
n.3530C>G
c.2538C>G (p.Ala846=)
c.2406C>G (p.Ala802=)
9g.97343480C>TCA466159080CCDC180,SUGT1P4-STRA6LP-CCDC180c.2415C>T (p.Ala805=)
n.2749C>T
n.2618C>T
n.511C>T
c.2547C>T (p.Ala849=)
n.236-5631C>T
n.3970C>T
n.3530C>T
c.2538C>T (p.Ala846=)
c.2406C>T (p.Ala802=)
9g.97343480_97343481delCA2523735663CCDC180,SUGT1P4-STRA6LP-CCDC180c.2415_2416del (p.Met806ValfsTer25)
n.2749_2750del
n.2618_2619del
n.511_512del
c.2547_2548del (p.Met850ValfsTer25)
n.236-5631_236-5630del
n.3970_3971del
n.3530_3531del
c.2538_2539del (p.Met847ValfsTer25)
c.2406_2407del (p.Met803ValfsTer25)
9g.97343481A=CA1866473517CCDC180,SUGT1P4-STRA6LP-CCDC180c.2416A= (p.Met806=)
n.2750A=
n.2619A=
n.512A=
c.2548A= (p.Met850=)
n.236-5630A=
n.3971A=
n.3531A=
c.2539A= (p.Met847=)
c.2407A= (p.Met803=)
9g.97343481A>CCA374158770CCDC180,SUGT1P4-STRA6LP-CCDC180c.2416A>C (p.Met806Leu)
n.2750A>C
n.2619A>C
n.512A>C
c.2548A>C (p.Met850Leu)
n.236-5630A>C
n.3971A>C
n.3531A>C
c.2539A>C (p.Met847Leu)
c.2407A>C (p.Met803Leu)
9g.97343481A>GCA374158771CCDC180,SUGT1P4-STRA6LP-CCDC180c.2416A>G (p.Met806Val)
n.2750A>G
n.2619A>G
n.512A>G
c.2548A>G (p.Met850Val)
n.236-5630A>G
n.3971A>G
n.3531A>G
c.2539A>G (p.Met847Val)
c.2407A>G (p.Met803Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.97343481A>TCA5145571CCDC180,SUGT1P4-STRA6LP-CCDC180c.2416A>T (p.Met806Leu)
n.2750A>T
n.2619A>T
n.512A>T
c.2548A>T (p.Met850Leu)
n.236-5630A>T
n.3971A>T
n.3531A>T
c.2539A>T (p.Met847Leu)
c.2407A>T (p.Met803Leu)
 dbSNP ExAC gnomAD v2
9g.97343482T>ACA374158772CCDC180,SUGT1P4-STRA6LP-CCDC180c.2417T>A (p.Met806Lys)
n.2751T>A
n.2620T>A
n.513T>A
c.2549T>A (p.Met850Lys)
n.236-5629T>A
n.3972T>A
n.3532T>A
c.2540T>A (p.Met847Lys)
c.2408T>A (p.Met803Lys)
9g.97343482T>CCA5145572CCDC180,SUGT1P4-STRA6LP-CCDC180c.2417T>C (p.Met806Thr)
n.2751T>C
n.2620T>C
n.513T>C
c.2549T>C (p.Met850Thr)
n.236-5629T>C
n.3972T>C
n.3532T>C
c.2540T>C (p.Met847Thr)
c.2408T>C (p.Met803Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.97343482T>GCA374158773CCDC180,SUGT1P4-STRA6LP-CCDC180c.2417T>G (p.Met806Arg)
n.2751T>G
n.2620T>G
n.513T>G
c.2549T>G (p.Met850Arg)
n.236-5629T>G
n.3972T>G
n.3532T>G
c.2540T>G (p.Met847Arg)
c.2408T>G (p.Met803Arg)
 COSMIC COSMIC COSMIC
9g.97343482T=CA1866473519CCDC180,SUGT1P4-STRA6LP-CCDC180c.2417T= (p.Met806=)
n.2751T=
n.2620T=
n.513T=
c.2549T= (p.Met850=)
n.236-5629T=
n.3972T=
n.3532T=
c.2540T= (p.Met847=)
c.2408T= (p.Met803=)
9g.97343483G>ACA374158774CCDC180,SUGT1P4-STRA6LP-CCDC180c.2418G>A (p.Met806Ile)
n.2752G>A
n.2621G>A
n.514G>A
c.2550G>A (p.Met850Ile)
n.236-5628G>A
n.3973G>A
n.3533G>A
c.2541G>A (p.Met847Ile)
c.2409G>A (p.Met803Ile)
 gnomAD v4
9g.97343483G>CCA374158775CCDC180,SUGT1P4-STRA6LP-CCDC180c.2418G>C (p.Met806Ile)
n.2752G>C
n.2621G>C
n.514G>C
c.2550G>C (p.Met850Ile)
n.236-5628G>C
n.3973G>C
n.3533G>C
c.2541G>C (p.Met847Ile)
c.2409G>C (p.Met803Ile)
9g.97343483G>TCA374158776CCDC180,SUGT1P4-STRA6LP-CCDC180c.2418G>T (p.Met806Ile)
n.2752G>T
n.2621G>T
n.514G>T
c.2550G>T (p.Met850Ile)
n.236-5628G>T
n.3973G>T
n.3533G>T
c.2541G>T (p.Met847Ile)
c.2409G>T (p.Met803Ile)
9g.97343484_97343493delCA2690872731CCDC180,SUGT1P4-STRA6LP-CCDC180c.2419_2428del (p.Phe807ThrfsTer8)
n.2753_2762del
n.2622_2631del
n.515_524del
c.2551_2560del (p.Phe851ThrfsTer8)
n.236-5627_236-5618del
n.3974_3983del
n.3534_3543del
c.2542_2551del (p.Phe848ThrfsTer8)
c.2410_2419del (p.Phe804ThrfsTer8)
 gnomAD v4
9g.97343484T>ACA374158777CCDC180,SUGT1P4-STRA6LP-CCDC180c.2419T>A (p.Phe807Ile)
n.2753T>A
n.2622T>A
n.515T>A
c.2551T>A (p.Phe851Ile)
n.236-5627T>A
n.3974T>A
n.3534T>A
c.2542T>A (p.Phe848Ile)
c.2410T>A (p.Phe804Ile)
9g.97343484T>CCA374158778CCDC180,SUGT1P4-STRA6LP-CCDC180c.2419T>C (p.Phe807Leu)
n.2753T>C
n.2622T>C
n.515T>C
c.2551T>C (p.Phe851Leu)
n.236-5627T>C
n.3974T>C
n.3534T>C
c.2542T>C (p.Phe848Leu)
c.2410T>C (p.Phe804Leu)
9g.97343484T>GCA374158779CCDC180,SUGT1P4-STRA6LP-CCDC180c.2419T>G (p.Phe807Val)
n.2753T>G
n.2622T>G
n.515T>G
c.2551T>G (p.Phe851Val)
n.236-5627T>G
n.3974T>G
n.3534T>G
c.2542T>G (p.Phe848Val)
c.2410T>G (p.Phe804Val)
9g.97343485T>ACA374158780CCDC180,SUGT1P4-STRA6LP-CCDC180c.2420T>A (p.Phe807Tyr)
n.2754T>A
n.2623T>A
n.516T>A
c.2552T>A (p.Phe851Tyr)
n.236-5626T>A
n.3975T>A
n.3535T>A
c.2543T>A (p.Phe848Tyr)
c.2411T>A (p.Phe804Tyr)
9g.97343485T>CCA374158781CCDC180,SUGT1P4-STRA6LP-CCDC180c.2420T>C (p.Phe807Ser)
n.2754T>C
n.2623T>C
n.516T>C
c.2552T>C (p.Phe851Ser)
n.236-5626T>C
n.3975T>C
n.3535T>C
c.2543T>C (p.Phe848Ser)
c.2411T>C (p.Phe804Ser)
9g.97343485T>GCA374158782CCDC180,SUGT1P4-STRA6LP-CCDC180c.2420T>G (p.Phe807Cys)
n.2754T>G
n.2623T>G
n.516T>G
c.2552T>G (p.Phe851Cys)
n.236-5626T>G
n.3975T>G
n.3535T>G
c.2543T>G (p.Phe848Cys)
c.2411T>G (p.Phe804Cys)
9g.97343485_97343486dupCA2565157927CCDC180,SUGT1P4-STRA6LP-CCDC180c.2420_2421dup (p.Ile808SerfsTer11)
n.2754_2755dup
n.2623_2624dup
n.516_517dup
c.2552_2553dup (p.Ile852SerfsTer11)
n.236-5626_236-5625dup
n.3975_3976dup
n.3535_3536dup
c.2543_2544dup (p.Ile849SerfsTer11)
c.2411_2412dup (p.Ile805SerfsTer11)
9g.97343486C>ACA374158783CCDC180,SUGT1P4-STRA6LP-CCDC180c.2421C>A (p.Phe807Leu)
n.2755C>A
n.2624C>A
n.517C>A
c.2553C>A (p.Phe851Leu)
n.236-5625C>A
n.3976C>A
n.3536C>A
c.2544C>A (p.Phe848Leu)
c.2412C>A (p.Phe804Leu)
 dbSNP gnomAD v4
9g.97343486C=CA1866473521CCDC180,SUGT1P4-STRA6LP-CCDC180c.2421C= (p.Phe807=)
n.2755C=
n.2624C=
n.517C=
c.2553C= (p.Phe851=)
n.236-5625C=
n.3976C=
n.3536C=
c.2544C= (p.Phe848=)
c.2412C= (p.Phe804=)
9g.97343486C>GCA374158784CCDC180,SUGT1P4-STRA6LP-CCDC180c.2421C>G (p.Phe807Leu)
n.2755C>G
n.2624C>G
n.517C>G
c.2553C>G (p.Phe851Leu)
n.236-5625C>G
n.3976C>G
n.3536C>G
c.2544C>G (p.Phe848Leu)
c.2412C>G (p.Phe804Leu)
 dbSNP
9g.97343486C>TCA5145573CCDC180,SUGT1P4-STRA6LP-CCDC180c.2421C>T (p.Phe807=)
n.2755C>T
n.2624C>T
n.517C>T
c.2553C>T (p.Phe851=)
n.236-5625C>T
n.3976C>T
n.3536C>T
c.2544C>T (p.Phe848=)
c.2412C>T (p.Phe804=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.97343487A>CCA374158785CCDC180,SUGT1P4-STRA6LP-CCDC180c.2422A>C (p.Ile808Leu)
n.2756A>C
n.2625A>C
n.518A>C
c.2554A>C (p.Ile852Leu)
n.236-5624A>C
n.3977A>C
n.3537A>C
c.2545A>C (p.Ile849Leu)
c.2413A>C (p.Ile805Leu)
9g.97343487A>GCA374158787CCDC180,SUGT1P4-STRA6LP-CCDC180c.2422A>G (p.Ile808Val)
n.2756A>G
n.2625A>G
n.518A>G
c.2554A>G (p.Ile852Val)
n.236-5624A>G
n.3977A>G
n.3537A>G
c.2545A>G (p.Ile849Val)
c.2413A>G (p.Ile805Val)
9g.97343487A>TCA374158786CCDC180,SUGT1P4-STRA6LP-CCDC180c.2422A>T (p.Ile808Phe)
n.2756A>T
n.2625A>T
n.518A>T
c.2554A>T (p.Ile852Phe)
n.236-5624A>T
n.3977A>T
n.3537A>T
c.2545A>T (p.Ile849Phe)
c.2413A>T (p.Ile805Phe)
9g.97343488T>ACA374158788CCDC180,SUGT1P4-STRA6LP-CCDC180c.2423T>A (p.Ile808Asn)
n.2757T>A
n.2626T>A
n.519T>A
c.2555T>A (p.Ile852Asn)
n.236-5623T>A
n.3978T>A
n.3538T>A
c.2546T>A (p.Ile849Asn)
c.2414T>A (p.Ile805Asn)
9g.97343488T>CCA374158790CCDC180,SUGT1P4-STRA6LP-CCDC180c.2423T>C (p.Ile808Thr)
n.2757T>C
n.2626T>C
n.519T>C
c.2555T>C (p.Ile852Thr)
n.236-5623T>C
n.3978T>C
n.3538T>C
c.2546T>C (p.Ile849Thr)
c.2414T>C (p.Ile805Thr)
9g.97343488T>GCA374158789CCDC180,SUGT1P4-STRA6LP-CCDC180c.2423T>G (p.Ile808Ser)
n.2757T>G
n.2626T>G
n.519T>G
c.2555T>G (p.Ile852Ser)
n.236-5623T>G
n.3978T>G
n.3538T>G
c.2546T>G (p.Ile849Ser)
c.2414T>G (p.Ile805Ser)
9g.97343489C>ACA466159103CCDC180,SUGT1P4-STRA6LP-CCDC180c.2424C>A (p.Ile808=)
n.2758C>A
n.2627C>A
n.520C>A
c.2556C>A (p.Ile852=)
n.236-5622C>A
n.3979C>A
n.3539C>A
c.2547C>A (p.Ile849=)
c.2415C>A (p.Ile805=)
9g.97343489C>GCA374158791CCDC180,SUGT1P4-STRA6LP-CCDC180c.2424C>G (p.Ile808Met)
n.2758C>G
n.2627C>G
n.520C>G
c.2556C>G (p.Ile852Met)
n.236-5622C>G
n.3979C>G
n.3539C>G
c.2547C>G (p.Ile849Met)
c.2415C>G (p.Ile805Met)
 dbSNP
9g.97343489C>TCA466159104CCDC180,SUGT1P4-STRA6LP-CCDC180c.2424C>T (p.Ile808=)
n.2758C>T
n.2627C>T
n.520C>T
c.2556C>T (p.Ile852=)
n.236-5622C>T
n.3979C>T
n.3539C>T
c.2547C>T (p.Ile849=)
c.2415C>T (p.Ile805=)
9g.97343490A>CCA374158792CCDC180,SUGT1P4-STRA6LP-CCDC180c.2425A>C (p.Asn809His)
n.2759A>C
n.2628A>C
n.521A>C
c.2557A>C (p.Asn853His)
n.236-5621A>C
n.3980A>C
n.3540A>C
c.2548A>C (p.Asn850His)
c.2416A>C (p.Asn806His)
9g.97343490A>GCA374158793CCDC180,SUGT1P4-STRA6LP-CCDC180c.2425A>G (p.Asn809Asp)
n.2759A>G
n.2628A>G
n.521A>G
c.2557A>G (p.Asn853Asp)
n.236-5621A>G
n.3980A>G
n.3540A>G
c.2548A>G (p.Asn850Asp)
c.2416A>G (p.Asn806Asp)
9g.97343490A>TCA374158794CCDC180,SUGT1P4-STRA6LP-CCDC180c.2425A>T (p.Asn809Tyr)
n.2759A>T
n.2628A>T
n.521A>T
c.2557A>T (p.Asn853Tyr)
n.236-5621A>T
n.3980A>T
n.3540A>T
c.2548A>T (p.Asn850Tyr)
c.2416A>T (p.Asn806Tyr)
9g.97343491delCA2690872735CCDC180,SUGT1P4-STRA6LP-CCDC180c.2426del (p.Asn809ThrfsTer9)
n.2760del
n.2629del
n.522del
c.2558del (p.Asn853ThrfsTer9)
n.236-5620del
n.3981del
n.3541del
c.2549del (p.Asn850ThrfsTer9)
c.2417del (p.Asn806ThrfsTer9)
 gnomAD v4
9g.97343491A=CA1866473523CCDC180,SUGT1P4-STRA6LP-CCDC180c.2426A= (p.Asn809=)
n.2760A=
n.2629A=
n.522A=
c.2558A= (p.Asn853=)
n.236-5620A=
n.3981A=
n.3541A=
c.2549A= (p.Asn850=)
c.2417A= (p.Asn806=)
9g.97343491A>CCA374158795CCDC180,SUGT1P4-STRA6LP-CCDC180c.2426A>C (p.Asn809Thr)
n.2760A>C
n.2629A>C
n.522A>C
c.2558A>C (p.Asn853Thr)
n.236-5620A>C
n.3981A>C
n.3541A>C
c.2549A>C (p.Asn850Thr)
c.2417A>C (p.Asn806Thr)
9g.97343491A>GCA374158796CCDC180,SUGT1P4-STRA6LP-CCDC180c.2426A>G (p.Asn809Ser)
n.2760A>G
n.2629A>G
n.522A>G
c.2558A>G (p.Asn853Ser)
n.236-5620A>G
n.3981A>G
n.3541A>G
c.2549A>G (p.Asn850Ser)
c.2417A>G (p.Asn806Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.97343491A>TCA374158797CCDC180,SUGT1P4-STRA6LP-CCDC180c.2426A>T (p.Asn809Ile)
n.2760A>T
n.2629A>T
n.522A>T
c.2558A>T (p.Asn853Ile)
n.236-5620A>T
n.3981A>T
n.3541A>T
c.2549A>T (p.Asn850Ile)
c.2417A>T (p.Asn806Ile)
9g.97343492C>ACA374158798CCDC180,SUGT1P4-STRA6LP-CCDC180c.2427C>A (p.Asn809Lys)
n.2761C>A
n.2630C>A
n.523C>A
c.2559C>A (p.Asn853Lys)
n.236-5619C>A
n.3982C>A
n.3542C>A
c.2550C>A (p.Asn850Lys)
c.2418C>A (p.Asn806Lys)
9g.97343492C=CA1866473525CCDC180,SUGT1P4-STRA6LP-CCDC180c.2427C= (p.Asn809=)
n.2761C=
n.2630C=
n.523C=
c.2559C= (p.Asn853=)
n.236-5619C=
n.3982C=
n.3542C=
c.2550C= (p.Asn850=)
c.2418C= (p.Asn806=)
9g.97343492C>GCA374158799CCDC180,SUGT1P4-STRA6LP-CCDC180c.2427C>G (p.Asn809Lys)
n.2761C>G
n.2630C>G
n.523C>G
c.2559C>G (p.Asn853Lys)
n.236-5619C>G
n.3982C>G
n.3542C>G
c.2550C>G (p.Asn850Lys)
c.2418C>G (p.Asn806Lys)
9g.97343492C>TCA5145574CCDC180,SUGT1P4-STRA6LP-CCDC180c.2427C>T (p.Asn809=)
n.2761C>T
n.2630C>T
n.523C>T
c.2559C>T (p.Asn853=)
n.236-5619C>T
n.3982C>T
n.3542C>T
c.2550C>T (p.Asn850=)
c.2418C>T (p.Asn806=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.97343493G>ACA5145575CCDC180,SUGT1P4-STRA6LP-CCDC180c.2428G>A (p.Asp810Asn)
n.2762G>A
n.2631G>A
n.524G>A
c.2560G>A (p.Asp854Asn)
n.236-5618G>A
n.3983G>A
n.3543G>A
c.2551G>A (p.Asp851Asn)
c.2419G>A (p.Asp807Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.97343493G>CCA374158801CCDC180,SUGT1P4-STRA6LP-CCDC180c.2428G>C (p.Asp810His)
n.2762G>C
n.2631G>C
n.524G>C
c.2560G>C (p.Asp854His)
n.236-5618G>C
n.3983G>C
n.3543G>C
c.2551G>C (p.Asp851His)
c.2419G>C (p.Asp807His)
9g.97343493G=CA1866473527CCDC180,SUGT1P4-STRA6LP-CCDC180c.2428G= (p.Asp810=)
n.2762G=
n.2631G=
n.524G=
c.2560G= (p.Asp854=)
n.236-5618G=
n.3983G=
n.3543G=
c.2551G= (p.Asp851=)
c.2419G= (p.Asp807=)
9g.97343493G>TCA374158800CCDC180,SUGT1P4-STRA6LP-CCDC180c.2428G>T (p.Asp810Tyr)
n.2762G>T
n.2631G>T
n.524G>T
c.2560G>T (p.Asp854Tyr)
n.236-5618G>T
n.3983G>T
n.3543G>T
c.2551G>T (p.Asp851Tyr)
c.2419G>T (p.Asp807Tyr)
9g.97343494A>CCA374158802CCDC180,SUGT1P4-STRA6LP-CCDC180c.2429A>C (p.Asp810Ala)
n.2763A>C
n.2632A>C
n.525A>C
c.2561A>C (p.Asp854Ala)
n.236-5617A>C
n.3984A>C
n.3544A>C
c.2552A>C (p.Asp851Ala)
c.2420A>C (p.Asp807Ala)
9g.97343494A>GCA374158803CCDC180,SUGT1P4-STRA6LP-CCDC180c.2429A>G (p.Asp810Gly)
n.2763A>G
n.2632A>G
n.525A>G
c.2561A>G (p.Asp854Gly)
n.236-5617A>G
n.3984A>G
n.3544A>G
c.2552A>G (p.Asp851Gly)
c.2420A>G (p.Asp807Gly)
9g.97343494A>TCA374158804CCDC180,SUGT1P4-STRA6LP-CCDC180c.2429A>T (p.Asp810Val)
n.2763A>T
n.2632A>T
n.525A>T
c.2561A>T (p.Asp854Val)
n.236-5617A>T
n.3984A>T
n.3544A>T
c.2552A>T (p.Asp851Val)
c.2420A>T (p.Asp807Val)
9g.97343495C>ACA374158805CCDC180,SUGT1P4-STRA6LP-CCDC180c.2430C>A (p.Asp810Glu)
n.2764C>A
n.2633C>A
n.526C>A
c.2562C>A (p.Asp854Glu)
n.236-5616C>A
n.3985C>A
n.3545C>A
c.2553C>A (p.Asp851Glu)
c.2421C>A (p.Asp807Glu)
9g.97343495C=CA1866473529CCDC180,SUGT1P4-STRA6LP-CCDC180c.2430C= (p.Asp810=)
n.2764C=
n.2633C=
n.526C=
c.2562C= (p.Asp854=)
n.236-5616C=
n.3985C=
n.3545C=
c.2553C= (p.Asp851=)
c.2421C= (p.Asp807=)
9g.97343495C>GCA374158806CCDC180,SUGT1P4-STRA6LP-CCDC180c.2430C>G (p.Asp810Glu)
n.2764C>G
n.2633C>G
n.526C>G
c.2562C>G (p.Asp854Glu)
n.236-5616C>G
n.3985C>G
n.3545C>G
c.2553C>G (p.Asp851Glu)
c.2421C>G (p.Asp807Glu)
9g.97343495C>TCA466159122CCDC180,SUGT1P4-STRA6LP-CCDC180c.2430C>T (p.Asp810=)
n.2764C>T
n.2633C>T
n.526C>T
c.2562C>T (p.Asp854=)
n.236-5616C>T
n.3985C>T
n.3545C>T
c.2553C>T (p.Asp851=)
c.2421C>T (p.Asp807=)
 dbSNP gnomAD v3 gnomAD v4
9g.97343496A>CCA374158807CCDC180,SUGT1P4-STRA6LP-CCDC180c.2431A>C (p.Thr811Pro)
n.2765A>C
n.2634A>C
n.527A>C
c.2563A>C (p.Thr855Pro)
n.236-5615A>C
n.3986A>C
n.3546A>C
c.2554A>C (p.Thr852Pro)
c.2422A>C (p.Thr808Pro)
9g.97343496A>GCA374158808CCDC180,SUGT1P4-STRA6LP-CCDC180c.2431A>G (p.Thr811Ala)
n.2765A>G
n.2634A>G
n.527A>G
c.2563A>G (p.Thr855Ala)
n.236-5615A>G
n.3986A>G
n.3546A>G
c.2554A>G (p.Thr852Ala)
c.2422A>G (p.Thr808Ala)
9g.97343496A>TCA374158809CCDC180,SUGT1P4-STRA6LP-CCDC180c.2431A>T (p.Thr811Ser)
n.2765A>T
n.2634A>T
n.527A>T
c.2563A>T (p.Thr855Ser)
n.236-5615A>T
n.3986A>T
n.3546A>T
c.2554A>T (p.Thr852Ser)
c.2422A>T (p.Thr808Ser)
 dbSNP
9g.97343497C>ACA374158810CCDC180,SUGT1P4-STRA6LP-CCDC180c.2432C>A (p.Thr811Asn)
n.2766C>A
n.2635C>A
n.528C>A
c.2564C>A (p.Thr855Asn)
n.236-5614C>A
n.3987C>A
n.3547C>A
c.2555C>A (p.Thr852Asn)
c.2423C>A (p.Thr808Asn)
9g.97343497C>GCA374158811CCDC180,SUGT1P4-STRA6LP-CCDC180c.2432C>G (p.Thr811Ser)
n.2766C>G
n.2635C>G
n.528C>G
c.2564C>G (p.Thr855Ser)
n.236-5614C>G
n.3987C>G
n.3547C>G
c.2555C>G (p.Thr852Ser)
c.2423C>G (p.Thr808Ser)
 gnomAD v4
9g.97343497C>TCA374158812CCDC180,SUGT1P4-STRA6LP-CCDC180c.2432C>T (p.Thr811Ile)
n.2766C>T
n.2635C>T
n.528C>T
c.2564C>T (p.Thr855Ile)
n.236-5614C>T
n.3987C>T
n.3547C>T
c.2555C>T (p.Thr852Ile)
c.2423C>T (p.Thr808Ile)
 gnomAD v4 COSMIC
9g.97343498T>ACA466159132CCDC180,SUGT1P4-STRA6LP-CCDC180c.2433T>A (p.Thr811=)
n.2767T>A
n.2636T>A
n.529T>A
c.2565T>A (p.Thr855=)
n.236-5613T>A
n.3988T>A
n.3548T>A
c.2556T>A (p.Thr852=)
c.2424T>A (p.Thr808=)
9g.97343498T>CCA466159134CCDC180,SUGT1P4-STRA6LP-CCDC180c.2433T>C (p.Thr811=)
n.2767T>C
n.2636T>C
n.529T>C
c.2565T>C (p.Thr855=)
n.236-5613T>C
n.3988T>C
n.3548T>C
c.2556T>C (p.Thr852=)
c.2424T>C (p.Thr808=)
9g.97343498T>GCA466159136CCDC180,SUGT1P4-STRA6LP-CCDC180c.2433T>G (p.Thr811=)
n.2767T>G
n.2636T>G
n.529T>G
c.2565T>G (p.Thr855=)
n.236-5613T>G
n.3988T>G
n.3548T>G
c.2556T>G (p.Thr852=)
c.2424T>G (p.Thr808=)
9g.97343499T>ACA374158814CCDC180,SUGT1P4-STRA6LP-CCDC180c.2434T>A (p.Ser812Thr)
n.2768T>A
n.2637T>A
n.530T>A
c.2566T>A (p.Ser856Thr)
n.236-5612T>A
n.3989T>A
n.3549T>A
c.2557T>A (p.Ser853Thr)
c.2425T>A (p.Ser809Thr)
9g.97343499T>CCA374158815CCDC180,SUGT1P4-STRA6LP-CCDC180c.2434T>C (p.Ser812Pro)
n.2768T>C
n.2637T>C
n.530T>C
c.2566T>C (p.Ser856Pro)
n.236-5612T>C
n.3989T>C
n.3549T>C
c.2557T>C (p.Ser853Pro)
c.2425T>C (p.Ser809Pro)
9g.97343499T>GCA374158813CCDC180,SUGT1P4-STRA6LP-CCDC180c.2434T>G (p.Ser812Ala)
n.2768T>G
n.2637T>G
n.530T>G
c.2566T>G (p.Ser856Ala)
n.236-5612T>G
n.3989T>G
n.3549T>G
c.2557T>G (p.Ser853Ala)
c.2425T>G (p.Ser809Ala)
9g.97343500C>ACA374158816CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343500C=CA1866473531CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343500C>GCA5145576CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343500C>TCA374158817CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343501C>ACA466159144CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343501C=CA1866473535CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343501C>GCA466159146CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343501C>TCA466159148CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343502A>CCA374158818CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343502A>GCA374158819CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343502A>TCA374158820CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343503G>ACA374158823CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343503G>CCA374158821CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343503G=CA1866473537CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343503G>TCA374158822CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343504T>ACA374158824CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343504T>CCA466159156CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343504T>GCA374158825CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343505G>ACA374158826CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343505G>CCA374158827CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343505G>TCA374158828CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343506C>ACA374158829CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343506C>GCA374158831CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343506C>TCA374158830CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343507C>ACA466159162CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343507C=CA1866473539CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343507C>GCA466159164CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343507C>TCA196691690CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343508A=CA1866473541CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343508A>CCA374158832CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343508A>GCA374158833CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343508A>TCA374158834CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343509A>CCA374158835CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343509A>GCA374158836CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343509A>TCA374158837CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343510G>ACA466159174CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343510G>CCA374158838CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343510G>TCA374158839CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343511T>ACA374158840CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343511T>CCA374158841CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343511T>GCA374158842CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343512T>ACA374158845CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343512T>CCA374158844CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343512T>GCA374158843CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343513C>ACA374158846CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343513C>GCA374158847CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343513C>TCA466159186CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343514A=CA1866473544CCDC180,SUGT1P4-STRA6LP-CCDC180c.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=)
9g.97343514A>CCA374158848CCDC180,SUGT1P4-STRA6LP-CCDC180c.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)
9g.97343514A>GCA374158850CCDC180,SUGT1P4-STRA6LP-CCDC180c.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
9g.97343514A>TCA374158849CCDC180,SUGT1P4-STRA6LP-CCDC180c.2449A>T (p.Ile817Leu)
n.2783A>T
n.2652A>T
n.545A>T
c.2581A>T (p.Ile861Leu)
n.236-5597A>T
n.4004A>T
n.3564A>T
c.2572A>T (p.Ile858Leu)
c.2440A>T (p.Ile814Leu)
9g.97343515T>ACA374158851CCDC180,SUGT1P4-STRA6LP-CCDC180c.2450T>A (p.Ile817Lys)
n.2784T>A
n.2653T>A
n.546T>A
c.2582T>A (p.Ile861Lys)
n.236-5596T>A
n.4005T>A
n.3565T>A
c.2573T>A (p.Ile858Lys)
c.2441T>A (p.Ile814Lys)
9g.97343515T>CCA374158853CCDC180,SUGT1P4-STRA6LP-CCDC180c.2450T>C (p.Ile817Thr)
n.2784T>C
n.2653T>C
n.546T>C
c.2582T>C (p.Ile861Thr)
n.236-5596T>C
n.4005T>C
n.3565T>C
c.2573T>C (p.Ile858Thr)
c.2441T>C (p.Ile814Thr)
 dbSNP
9g.97343515T>GCA374158852CCDC180,SUGT1P4-STRA6LP-CCDC180c.2450T>G (p.Ile817Arg)
n.2784T>G
n.2653T>G
n.546T>G
c.2582T>G (p.Ile861Arg)
n.236-5596T>G
n.4005T>G
n.3565T>G
c.2573T>G (p.Ile858Arg)
c.2441T>G (p.Ile814Arg)
9g.97343516A=CA1866473547CCDC180,SUGT1P4-STRA6LP-CCDC180c.2451A= (p.Ile817=)
n.2785A=
n.2654A=
n.547A=
c.2583A= (p.Ile861=)
n.236-5595A=
n.4006A=
n.3566A=
c.2574A= (p.Ile858=)
c.2442A= (p.Ile814=)
9g.97343516A>CCA466159195CCDC180,SUGT1P4-STRA6LP-CCDC180c.2451A>C (p.Ile817=)
n.2785A>C
n.2654A>C
n.547A>C
c.2583A>C (p.Ile861=)
n.236-5595A>C
n.4006A>C
n.3566A>C
c.2574A>C (p.Ile858=)
c.2442A>C (p.Ile814=)
9g.97343516A>GCA374158854CCDC180,SUGT1P4-STRA6LP-CCDC180c.2451A>G (p.Ile817Met)
n.2785A>G
n.2654A>G
n.547A>G
c.2583A>G (p.Ile861Met)
n.236-5595A>G
n.4006A>G
n.3566A>G
c.2574A>G (p.Ile858Met)
c.2442A>G (p.Ile814Met)
9g.97343516A>TCA466159197CCDC180,SUGT1P4-STRA6LP-CCDC180c.2451A>T (p.Ile817=)
n.2785A>T
n.2654A>T
n.547A>T
c.2583A>T (p.Ile861=)
n.236-5595A>T
n.4006A>T
n.3566A>T
c.2574A>T (p.Ile858=)
c.2442A>T (p.Ile814=)
 dbSNP gnomAD v2 gnomAD v4
9g.97343517G>ACA374158855CCDC180,SUGT1P4-STRA6LP-CCDC180c.2452G>A (p.Glu818Lys)
n.2786G>A
n.2655G>A
n.548G>A
c.2584G>A (p.Glu862Lys)
n.236-5594G>A
n.4007G>A
n.3567G>A
c.2575G>A (p.Glu859Lys)
c.2443G>A (p.Glu815Lys)
9g.97343517G>CCA374158856CCDC180,SUGT1P4-STRA6LP-CCDC180c.2452G>C (p.Glu818Gln)
n.2786G>C
n.2655G>C
n.548G>C
c.2584G>C (p.Glu862Gln)
n.236-5594G>C
n.4007G>C
n.3567G>C
c.2575G>C (p.Glu859Gln)
c.2443G>C (p.Glu815Gln)
9g.97343517G>TCA374158857CCDC180,SUGT1P4-STRA6LP-CCDC180c.2452G>T (p.Glu818Ter)
n.2786G>T
n.2655G>T
n.548G>T
c.2584G>T (p.Glu862Ter)
n.236-5594G>T
n.4007G>T
n.3567G>T
c.2575G>T (p.Glu859Ter)
c.2443G>T (p.Glu815Ter)
 COSMIC COSMIC COSMIC

Number of alleles fetched