Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.90823448T>A | CA360425490 | ADGRV1 | c.16220T>A (p.Phe5407Tyr) c.5174T>A (p.Phe1725Tyr) n.3487T>A c.265+147239T>A (n.265+147239T>A) n.128+1266T>A c.2630T>A (p.Phe877Tyr) c.3203T>A (p.Phe1068Tyr) n.16233T>A c.16217T>A (p.Phe5406Tyr) c.16139T>A (p.Phe5380Tyr) c.13523T>A (p.Phe4508Tyr) c.16241T>A (p.Phe5414Tyr) c.16238T>A (p.Phe5413Tyr) c.16160T>A (p.Phe5387Tyr) c.16145T>A (p.Phe5382Tyr) c.16061T>A (p.Phe5354Tyr) c.9359T>A (p.Phe3120Tyr) c.9338T>A (p.Phe3113Tyr) n.16236T>A | |
5 | g.90823448T>C | CA3342086 | ADGRV1 | c.16220T>C (p.Phe5407Ser) c.5174T>C (p.Phe1725Ser) n.3487T>C c.265+147239T>C (n.265+147239T>C) n.128+1266T>C c.2630T>C (p.Phe877Ser) c.3203T>C (p.Phe1068Ser) n.16233T>C c.16217T>C (p.Phe5406Ser) c.16139T>C (p.Phe5380Ser) c.13523T>C (p.Phe4508Ser) c.16241T>C (p.Phe5414Ser) c.16238T>C (p.Phe5413Ser) c.16160T>C (p.Phe5387Ser) c.16145T>C (p.Phe5382Ser) c.16061T>C (p.Phe5354Ser) c.9359T>C (p.Phe3120Ser) c.9338T>C (p.Phe3113Ser) n.16236T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823448T>G | CA360425491 | ADGRV1 | c.16220T>G (p.Phe5407Cys) c.5174T>G (p.Phe1725Cys) n.3487T>G c.265+147239T>G (n.265+147239T>G) n.128+1266T>G c.2630T>G (p.Phe877Cys) c.3203T>G (p.Phe1068Cys) n.16233T>G c.16217T>G (p.Phe5406Cys) c.16139T>G (p.Phe5380Cys) c.13523T>G (p.Phe4508Cys) c.16241T>G (p.Phe5414Cys) c.16238T>G (p.Phe5413Cys) c.16160T>G (p.Phe5387Cys) c.16145T>G (p.Phe5382Cys) c.16061T>G (p.Phe5354Cys) c.9359T>G (p.Phe3120Cys) c.9338T>G (p.Phe3113Cys) n.16236T>G | |
5 | g.90823448T= | CA1562918245 | ADGRV1 | c.16220T= (p.Phe5407=) c.5174T= (p.Phe1725=) n.3487T= c.265+147239T= (n.265+147239T=) n.128+1266T= c.2630T= (p.Phe877=) c.3203T= (p.Phe1068=) n.16233T= c.16217T= (p.Phe5406=) c.16139T= (p.Phe5380=) c.13523T= (p.Phe4508=) c.16241T= (p.Phe5414=) c.16238T= (p.Phe5413=) c.16160T= (p.Phe5387=) c.16145T= (p.Phe5382=) c.16061T= (p.Phe5354=) c.9359T= (p.Phe3120=) c.9338T= (p.Phe3113=) n.16236T= | |
5 | g.90823449T>A | CA360425492 | ADGRV1 | c.16221T>A (p.Phe5407Leu) c.5175T>A (p.Phe1725Leu) n.3488T>A c.265+147240T>A (n.265+147240T>A) n.128+1267T>A c.2631T>A (p.Phe877Leu) c.3204T>A (p.Phe1068Leu) n.16234T>A c.16218T>A (p.Phe5406Leu) c.16140T>A (p.Phe5380Leu) c.13524T>A (p.Phe4508Leu) c.16242T>A (p.Phe5414Leu) c.16239T>A (p.Phe5413Leu) c.16161T>A (p.Phe5387Leu) c.16146T>A (p.Phe5382Leu) c.16062T>A (p.Phe5354Leu) c.9360T>A (p.Phe3120Leu) c.9339T>A (p.Phe3113Leu) n.16237T>A | |
5 | g.90823449T>C | CA445436442 | ADGRV1 | c.16221T>C (p.Phe5407=) c.5175T>C (p.Phe1725=) n.3488T>C c.265+147240T>C (n.265+147240T>C) n.128+1267T>C c.2631T>C (p.Phe877=) c.3204T>C (p.Phe1068=) n.16234T>C c.16218T>C (p.Phe5406=) c.16140T>C (p.Phe5380=) c.13524T>C (p.Phe4508=) c.16242T>C (p.Phe5414=) c.16239T>C (p.Phe5413=) c.16161T>C (p.Phe5387=) c.16146T>C (p.Phe5382=) c.16062T>C (p.Phe5354=) c.9360T>C (p.Phe3120=) c.9339T>C (p.Phe3113=) n.16237T>C | |
5 | g.90823449T>G | CA360425493 | ADGRV1 | c.16221T>G (p.Phe5407Leu) c.5175T>G (p.Phe1725Leu) n.3488T>G c.265+147240T>G (n.265+147240T>G) n.128+1267T>G c.2631T>G (p.Phe877Leu) c.3204T>G (p.Phe1068Leu) n.16234T>G c.16218T>G (p.Phe5406Leu) c.16140T>G (p.Phe5380Leu) c.13524T>G (p.Phe4508Leu) c.16242T>G (p.Phe5414Leu) c.16239T>G (p.Phe5413Leu) c.16161T>G (p.Phe5387Leu) c.16146T>G (p.Phe5382Leu) c.16062T>G (p.Phe5354Leu) c.9360T>G (p.Phe3120Leu) c.9339T>G (p.Phe3113Leu) n.16237T>G | |
5 | g.90823450T>A | CA360425494 | ADGRV1 | c.16222T>A (p.Trp5408Arg) c.5176T>A (p.Trp1726Arg) n.3489T>A c.265+147241T>A (n.265+147241T>A) n.128+1268T>A c.2632T>A (p.Trp878Arg) c.3205T>A (p.Trp1069Arg) n.16235T>A c.16219T>A (p.Trp5407Arg) c.16141T>A (p.Trp5381Arg) c.13525T>A (p.Trp4509Arg) c.16243T>A (p.Trp5415Arg) c.16240T>A (p.Trp5414Arg) c.16162T>A (p.Trp5388Arg) c.16147T>A (p.Trp5383Arg) c.16063T>A (p.Trp5355Arg) c.9361T>A (p.Trp3121Arg) c.9340T>A (p.Trp3114Arg) n.16238T>A | |
5 | g.90823450T>C | CA360425495 | ADGRV1 | c.16222T>C (p.Trp5408Arg) c.5176T>C (p.Trp1726Arg) n.3489T>C c.265+147241T>C (n.265+147241T>C) n.128+1268T>C c.2632T>C (p.Trp878Arg) c.3205T>C (p.Trp1069Arg) n.16235T>C c.16219T>C (p.Trp5407Arg) c.16141T>C (p.Trp5381Arg) c.13525T>C (p.Trp4509Arg) c.16243T>C (p.Trp5415Arg) c.16240T>C (p.Trp5414Arg) c.16162T>C (p.Trp5388Arg) c.16147T>C (p.Trp5383Arg) c.16063T>C (p.Trp5355Arg) c.9361T>C (p.Trp3121Arg) c.9340T>C (p.Trp3114Arg) n.16238T>C | gnomAD v4 |
5 | g.90823450T>G | CA360425496 | ADGRV1 | c.16222T>G (p.Trp5408Gly) c.5176T>G (p.Trp1726Gly) n.3489T>G c.265+147241T>G (n.265+147241T>G) n.128+1268T>G c.2632T>G (p.Trp878Gly) c.3205T>G (p.Trp1069Gly) n.16235T>G c.16219T>G (p.Trp5407Gly) c.16141T>G (p.Trp5381Gly) c.13525T>G (p.Trp4509Gly) c.16243T>G (p.Trp5415Gly) c.16240T>G (p.Trp5414Gly) c.16162T>G (p.Trp5388Gly) c.16147T>G (p.Trp5383Gly) c.16063T>G (p.Trp5355Gly) c.9361T>G (p.Trp3121Gly) c.9340T>G (p.Trp3114Gly) n.16238T>G | |
5 | g.90823451G>A | CA360425499 | ADGRV1 | c.16223G>A (p.Trp5408Ter) c.5177G>A (p.Trp1726Ter) n.3490G>A c.265+147242G>A (n.265+147242G>A) n.128+1269G>A c.2633G>A (p.Trp878Ter) c.3206G>A (p.Trp1069Ter) n.16236G>A c.16220G>A (p.Trp5407Ter) c.16142G>A (p.Trp5381Ter) c.13526G>A (p.Trp4509Ter) c.16244G>A (p.Trp5415Ter) c.16241G>A (p.Trp5414Ter) c.16163G>A (p.Trp5388Ter) c.16148G>A (p.Trp5383Ter) c.16064G>A (p.Trp5355Ter) c.9362G>A (p.Trp3121Ter) c.9341G>A (p.Trp3114Ter) n.16239G>A | |
5 | g.90823451G>C | CA360425498 | ADGRV1 | c.16223G>C (p.Trp5408Ser) c.5177G>C (p.Trp1726Ser) n.3490G>C c.265+147242G>C (n.265+147242G>C) n.128+1269G>C c.2633G>C (p.Trp878Ser) c.3206G>C (p.Trp1069Ser) n.16236G>C c.16220G>C (p.Trp5407Ser) c.16142G>C (p.Trp5381Ser) c.13526G>C (p.Trp4509Ser) c.16244G>C (p.Trp5415Ser) c.16241G>C (p.Trp5414Ser) c.16163G>C (p.Trp5388Ser) c.16148G>C (p.Trp5383Ser) c.16064G>C (p.Trp5355Ser) c.9362G>C (p.Trp3121Ser) c.9341G>C (p.Trp3114Ser) n.16239G>C | |
5 | g.90823451G>T | CA360425497 | ADGRV1 | c.16223G>T (p.Trp5408Leu) c.5177G>T (p.Trp1726Leu) n.3490G>T c.265+147242G>T (n.265+147242G>T) n.128+1269G>T c.2633G>T (p.Trp878Leu) c.3206G>T (p.Trp1069Leu) n.16236G>T c.16220G>T (p.Trp5407Leu) c.16142G>T (p.Trp5381Leu) c.13526G>T (p.Trp4509Leu) c.16244G>T (p.Trp5415Leu) c.16241G>T (p.Trp5414Leu) c.16163G>T (p.Trp5388Leu) c.16148G>T (p.Trp5383Leu) c.16064G>T (p.Trp5355Leu) c.9362G>T (p.Trp3121Leu) c.9341G>T (p.Trp3114Leu) n.16239G>T | |
5 | g.90823452del | CA2573140031 | ADGRV1 | c.16224del (p.Trp5408CysfsTer17) c.5178del (p.Trp1726CysfsTer17) n.3491del c.265+147243del (n.265+147243del) n.128+1270del c.2634del (p.Trp878CysfsTer17) c.3207del (p.Trp1069CysfsTer17) n.16237del c.16221del (p.Trp5407CysfsTer17) c.16143del (p.Trp5381CysfsTer17) c.13527del (p.Trp4509CysfsTer17) c.16245del (p.Trp5415CysfsTer17) c.16242del (p.Trp5414CysfsTer17) c.16164del (p.Trp5388CysfsTer17) c.16149del (p.Trp5383CysfsTer17) c.16065del (p.Trp5355CysfsTer17) c.9363del (p.Trp3121CysfsTer17) c.9342del (p.Trp3114CysfsTer17) n.16240del | ClinVar dbSNP |
5 | g.90823452G>A | CA3342087 | ADGRV1 | c.16224G>A (p.Trp5408Ter) c.5178G>A (p.Trp1726Ter) n.3491G>A c.265+147243G>A (n.265+147243G>A) n.128+1270G>A c.2634G>A (p.Trp878Ter) c.3207G>A (p.Trp1069Ter) n.16237G>A c.16221G>A (p.Trp5407Ter) c.16143G>A (p.Trp5381Ter) c.13527G>A (p.Trp4509Ter) c.16245G>A (p.Trp5415Ter) c.16242G>A (p.Trp5414Ter) c.16164G>A (p.Trp5388Ter) c.16149G>A (p.Trp5383Ter) c.16065G>A (p.Trp5355Ter) c.9363G>A (p.Trp3121Ter) c.9342G>A (p.Trp3114Ter) n.16240G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823452G>C | CA360425500 | ADGRV1 | c.16224G>C (p.Trp5408Cys) c.5178G>C (p.Trp1726Cys) n.3491G>C c.265+147243G>C (n.265+147243G>C) n.128+1270G>C c.2634G>C (p.Trp878Cys) c.3207G>C (p.Trp1069Cys) n.16237G>C c.16221G>C (p.Trp5407Cys) c.16143G>C (p.Trp5381Cys) c.13527G>C (p.Trp4509Cys) c.16245G>C (p.Trp5415Cys) c.16242G>C (p.Trp5414Cys) c.16164G>C (p.Trp5388Cys) c.16149G>C (p.Trp5383Cys) c.16065G>C (p.Trp5355Cys) c.9363G>C (p.Trp3121Cys) c.9342G>C (p.Trp3114Cys) n.16240G>C | |
5 | g.90823452G= | CA1562918246 | ADGRV1 | c.16224G= (p.Trp5408=) c.5178G= (p.Trp1726=) n.3491G= c.265+147243G= (n.265+147243G=) n.128+1270G= c.2634G= (p.Trp878=) c.3207G= (p.Trp1069=) n.16237G= c.16221G= (p.Trp5407=) c.16143G= (p.Trp5381=) c.13527G= (p.Trp4509=) c.16245G= (p.Trp5415=) c.16242G= (p.Trp5414=) c.16164G= (p.Trp5388=) c.16149G= (p.Trp5383=) c.16065G= (p.Trp5355=) c.9363G= (p.Trp3121=) c.9342G= (p.Trp3114=) n.16240G= | |
5 | g.90823452G>T | CA360425501 | ADGRV1 | c.16224G>T (p.Trp5408Cys) c.5178G>T (p.Trp1726Cys) n.3491G>T c.265+147243G>T (n.265+147243G>T) n.128+1270G>T c.2634G>T (p.Trp878Cys) c.3207G>T (p.Trp1069Cys) n.16237G>T c.16221G>T (p.Trp5407Cys) c.16143G>T (p.Trp5381Cys) c.13527G>T (p.Trp4509Cys) c.16245G>T (p.Trp5415Cys) c.16242G>T (p.Trp5414Cys) c.16164G>T (p.Trp5388Cys) c.16149G>T (p.Trp5383Cys) c.16065G>T (p.Trp5355Cys) c.9363G>T (p.Trp3121Cys) c.9342G>T (p.Trp3114Cys) n.16240G>T | |
5 | g.90823453C>A | CA122804058 | ADGRV1 | c.16225C>A (p.Arg5409=) c.5179C>A (p.Arg1727=) n.3492C>A c.265+147244C>A (n.265+147244C>A) n.128+1271C>A c.2635C>A (p.Arg879=) c.3208C>A (p.Arg1070=) n.16238C>A c.16222C>A (p.Arg5408=) c.16144C>A (p.Arg5382=) c.13528C>A (p.Arg4510=) c.16246C>A (p.Arg5416=) c.16243C>A (p.Arg5415=) c.16165C>A (p.Arg5389=) c.16150C>A (p.Arg5384=) c.16066C>A (p.Arg5356=) c.9364C>A (p.Arg3122=) c.9343C>A (p.Arg3115=) n.16241C>A | dbSNP |
5 | g.90823453C= | CA1562918247 | ADGRV1 | c.16225C= (p.Arg5409=) c.5179C= (p.Arg1727=) n.3492C= c.265+147244C= (n.265+147244C=) n.128+1271C= c.2635C= (p.Arg879=) c.3208C= (p.Arg1070=) n.16238C= c.16222C= (p.Arg5408=) c.16144C= (p.Arg5382=) c.13528C= (p.Arg4510=) c.16246C= (p.Arg5416=) c.16243C= (p.Arg5415=) c.16165C= (p.Arg5389=) c.16150C= (p.Arg5384=) c.16066C= (p.Arg5356=) c.9364C= (p.Arg3122=) c.9343C= (p.Arg3115=) n.16241C= | |
5 | g.90823453C>G | CA3342089 | ADGRV1 | c.16225C>G (p.Arg5409Gly) c.5179C>G (p.Arg1727Gly) n.3492C>G c.265+147244C>G (n.265+147244C>G) n.128+1271C>G c.2635C>G (p.Arg879Gly) c.3208C>G (p.Arg1070Gly) n.16238C>G c.16222C>G (p.Arg5408Gly) c.16144C>G (p.Arg5382Gly) c.13528C>G (p.Arg4510Gly) c.16246C>G (p.Arg5416Gly) c.16243C>G (p.Arg5415Gly) c.16165C>G (p.Arg5389Gly) c.16150C>G (p.Arg5384Gly) c.16066C>G (p.Arg5356Gly) c.9364C>G (p.Arg3122Gly) c.9343C>G (p.Arg3115Gly) n.16241C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823453C>T | CA3342088 | ADGRV1 | c.16225C>T (p.Arg5409Ter) c.5179C>T (p.Arg1727Ter) n.3492C>T c.265+147244C>T (n.265+147244C>T) n.128+1271C>T c.2635C>T (p.Arg879Ter) c.3208C>T (p.Arg1070Ter) n.16238C>T c.16222C>T (p.Arg5408Ter) c.16144C>T (p.Arg5382Ter) c.13528C>T (p.Arg4510Ter) c.16246C>T (p.Arg5416Ter) c.16243C>T (p.Arg5415Ter) c.16165C>T (p.Arg5389Ter) c.16150C>T (p.Arg5384Ter) c.16066C>T (p.Arg5356Ter) c.9364C>T (p.Arg3122Ter) c.9343C>T (p.Arg3115Ter) n.16241C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823454G>A | CA3342090 | ADGRV1 | c.16226G>A (p.Arg5409Gln) c.5180G>A (p.Arg1727Gln) n.3493G>A c.265+147245G>A (n.265+147245G>A) n.128+1272G>A c.2636G>A (p.Arg879Gln) c.3209G>A (p.Arg1070Gln) n.16239G>A c.16223G>A (p.Arg5408Gln) c.16145G>A (p.Arg5382Gln) c.13529G>A (p.Arg4510Gln) c.16247G>A (p.Arg5416Gln) c.16244G>A (p.Arg5415Gln) c.16166G>A (p.Arg5389Gln) c.16151G>A (p.Arg5384Gln) c.16067G>A (p.Arg5356Gln) c.9365G>A (p.Arg3122Gln) c.9344G>A (p.Arg3115Gln) n.16242G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823454G>C | CA360425503 | ADGRV1 | c.16226G>C (p.Arg5409Pro) c.5180G>C (p.Arg1727Pro) n.3493G>C c.265+147245G>C (n.265+147245G>C) n.128+1272G>C c.2636G>C (p.Arg879Pro) c.3209G>C (p.Arg1070Pro) n.16239G>C c.16223G>C (p.Arg5408Pro) c.16145G>C (p.Arg5382Pro) c.13529G>C (p.Arg4510Pro) c.16247G>C (p.Arg5416Pro) c.16244G>C (p.Arg5415Pro) c.16166G>C (p.Arg5389Pro) c.16151G>C (p.Arg5384Pro) c.16067G>C (p.Arg5356Pro) c.9365G>C (p.Arg3122Pro) c.9344G>C (p.Arg3115Pro) n.16242G>C | |
5 | g.90823454G= | CA1562918248 | ADGRV1 | c.16226G= (p.Arg5409=) c.5180G= (p.Arg1727=) n.3493G= c.265+147245G= (n.265+147245G=) n.128+1272G= c.2636G= (p.Arg879=) c.3209G= (p.Arg1070=) n.16239G= c.16223G= (p.Arg5408=) c.16145G= (p.Arg5382=) c.13529G= (p.Arg4510=) c.16247G= (p.Arg5416=) c.16244G= (p.Arg5415=) c.16166G= (p.Arg5389=) c.16151G= (p.Arg5384=) c.16067G= (p.Arg5356=) c.9365G= (p.Arg3122=) c.9344G= (p.Arg3115=) n.16242G= | |
5 | g.90823454G>T | CA360425502 | ADGRV1 | c.16226G>T (p.Arg5409Leu) c.5180G>T (p.Arg1727Leu) n.3493G>T c.265+147245G>T (n.265+147245G>T) n.128+1272G>T c.2636G>T (p.Arg879Leu) c.3209G>T (p.Arg1070Leu) n.16239G>T c.16223G>T (p.Arg5408Leu) c.16145G>T (p.Arg5382Leu) c.13529G>T (p.Arg4510Leu) c.16247G>T (p.Arg5416Leu) c.16244G>T (p.Arg5415Leu) c.16166G>T (p.Arg5389Leu) c.16151G>T (p.Arg5384Leu) c.16067G>T (p.Arg5356Leu) c.9365G>T (p.Arg3122Leu) c.9344G>T (p.Arg3115Leu) n.16242G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823455A>C | CA445436459 | ADGRV1 | c.16227A>C (p.Arg5409=) c.5181A>C (p.Arg1727=) n.3494A>C c.265+147246A>C (n.265+147246A>C) n.128+1273A>C c.2637A>C (p.Arg879=) c.3210A>C (p.Arg1070=) n.16240A>C c.16224A>C (p.Arg5408=) c.16146A>C (p.Arg5382=) c.13530A>C (p.Arg4510=) c.16248A>C (p.Arg5416=) c.16245A>C (p.Arg5415=) c.16167A>C (p.Arg5389=) c.16152A>C (p.Arg5384=) c.16068A>C (p.Arg5356=) c.9366A>C (p.Arg3122=) c.9345A>C (p.Arg3115=) n.16243A>C | |
5 | g.90823455A>G | CA445436462 | ADGRV1 | c.16227A>G (p.Arg5409=) c.5181A>G (p.Arg1727=) n.3494A>G c.265+147246A>G (n.265+147246A>G) n.128+1273A>G c.2637A>G (p.Arg879=) c.3210A>G (p.Arg1070=) n.16240A>G c.16224A>G (p.Arg5408=) c.16146A>G (p.Arg5382=) c.13530A>G (p.Arg4510=) c.16248A>G (p.Arg5416=) c.16245A>G (p.Arg5415=) c.16167A>G (p.Arg5389=) c.16152A>G (p.Arg5384=) c.16068A>G (p.Arg5356=) c.9366A>G (p.Arg3122=) c.9345A>G (p.Arg3115=) n.16243A>G | gnomAD v4 |
5 | g.90823455A>T | CA445436460 | ADGRV1 | c.16227A>T (p.Arg5409=) c.5181A>T (p.Arg1727=) n.3494A>T c.265+147246A>T (n.265+147246A>T) n.128+1273A>T c.2637A>T (p.Arg879=) c.3210A>T (p.Arg1070=) n.16240A>T c.16224A>T (p.Arg5408=) c.16146A>T (p.Arg5382=) c.13530A>T (p.Arg4510=) c.16248A>T (p.Arg5416=) c.16245A>T (p.Arg5415=) c.16167A>T (p.Arg5389=) c.16152A>T (p.Arg5384=) c.16068A>T (p.Arg5356=) c.9366A>T (p.Arg3122=) c.9345A>T (p.Arg3115=) n.16243A>T | |
5 | g.90823456G>A | CA360425504 | ADGRV1 | c.16228G>A (p.Val5410Ile) c.5182G>A (p.Val1728Ile) n.3495G>A c.265+147247G>A (n.265+147247G>A) n.128+1274G>A c.2638G>A (p.Val880Ile) c.3211G>A (p.Val1071Ile) n.16241G>A c.16225G>A (p.Val5409Ile) c.16147G>A (p.Val5383Ile) c.13531G>A (p.Val4511Ile) c.16249G>A (p.Val5417Ile) c.16246G>A (p.Val5416Ile) c.16168G>A (p.Val5390Ile) c.16153G>A (p.Val5385Ile) c.16069G>A (p.Val5357Ile) c.9367G>A (p.Val3123Ile) c.9346G>A (p.Val3116Ile) n.16244G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823456G>C | CA360425505 | ADGRV1 | c.16228G>C (p.Val5410Leu) c.5182G>C (p.Val1728Leu) n.3495G>C c.265+147247G>C (n.265+147247G>C) n.128+1274G>C c.2638G>C (p.Val880Leu) c.3211G>C (p.Val1071Leu) n.16241G>C c.16225G>C (p.Val5409Leu) c.16147G>C (p.Val5383Leu) c.13531G>C (p.Val4511Leu) c.16249G>C (p.Val5417Leu) c.16246G>C (p.Val5416Leu) c.16168G>C (p.Val5390Leu) c.16153G>C (p.Val5385Leu) c.16069G>C (p.Val5357Leu) c.9367G>C (p.Val3123Leu) c.9346G>C (p.Val3116Leu) n.16244G>C | |
5 | g.90823456G= | CA1562918249 | ADGRV1 | c.16228G= (p.Val5410=) c.5182G= (p.Val1728=) n.3495G= c.265+147247G= (n.265+147247G=) n.128+1274G= c.2638G= (p.Val880=) c.3211G= (p.Val1071=) n.16241G= c.16225G= (p.Val5409=) c.16147G= (p.Val5383=) c.13531G= (p.Val4511=) c.16249G= (p.Val5417=) c.16246G= (p.Val5416=) c.16168G= (p.Val5390=) c.16153G= (p.Val5385=) c.16069G= (p.Val5357=) c.9367G= (p.Val3123=) c.9346G= (p.Val3116=) n.16244G= | |
5 | g.90823456G>T | CA360425506 | ADGRV1 | c.16228G>T (p.Val5410Phe) c.5182G>T (p.Val1728Phe) n.3495G>T c.265+147247G>T (n.265+147247G>T) n.128+1274G>T c.2638G>T (p.Val880Phe) c.3211G>T (p.Val1071Phe) n.16241G>T c.16225G>T (p.Val5409Phe) c.16147G>T (p.Val5383Phe) c.13531G>T (p.Val4511Phe) c.16249G>T (p.Val5417Phe) c.16246G>T (p.Val5416Phe) c.16168G>T (p.Val5390Phe) c.16153G>T (p.Val5385Phe) c.16069G>T (p.Val5357Phe) c.9367G>T (p.Val3123Phe) c.9346G>T (p.Val3116Phe) n.16244G>T | |
5 | g.90823457T>A | CA360425507 | ADGRV1 | c.16229T>A (p.Val5410Asp) c.5183T>A (p.Val1728Asp) n.3496T>A c.265+147248T>A (n.265+147248T>A) n.128+1275T>A c.2639T>A (p.Val880Asp) c.3212T>A (p.Val1071Asp) n.16242T>A c.16226T>A (p.Val5409Asp) c.16148T>A (p.Val5383Asp) c.13532T>A (p.Val4511Asp) c.16250T>A (p.Val5417Asp) c.16247T>A (p.Val5416Asp) c.16169T>A (p.Val5390Asp) c.16154T>A (p.Val5385Asp) c.16070T>A (p.Val5357Asp) c.9368T>A (p.Val3123Asp) c.9347T>A (p.Val3116Asp) n.16245T>A | gnomAD v4 |
5 | g.90823457T>C | CA360425508 | ADGRV1 | c.16229T>C (p.Val5410Ala) c.5183T>C (p.Val1728Ala) n.3496T>C c.265+147248T>C (n.265+147248T>C) n.128+1275T>C c.2639T>C (p.Val880Ala) c.3212T>C (p.Val1071Ala) n.16242T>C c.16226T>C (p.Val5409Ala) c.16148T>C (p.Val5383Ala) c.13532T>C (p.Val4511Ala) c.16250T>C (p.Val5417Ala) c.16247T>C (p.Val5416Ala) c.16169T>C (p.Val5390Ala) c.16154T>C (p.Val5385Ala) c.16070T>C (p.Val5357Ala) c.9368T>C (p.Val3123Ala) c.9347T>C (p.Val3116Ala) n.16245T>C | |
5 | g.90823457T>G | CA360425509 | ADGRV1 | c.16229T>G (p.Val5410Gly) c.5183T>G (p.Val1728Gly) n.3496T>G c.265+147248T>G (n.265+147248T>G) n.128+1275T>G c.2639T>G (p.Val880Gly) c.3212T>G (p.Val1071Gly) n.16242T>G c.16226T>G (p.Val5409Gly) c.16148T>G (p.Val5383Gly) c.13532T>G (p.Val4511Gly) c.16250T>G (p.Val5417Gly) c.16247T>G (p.Val5416Gly) c.16169T>G (p.Val5390Gly) c.16154T>G (p.Val5385Gly) c.16070T>G (p.Val5357Gly) c.9368T>G (p.Val3123Gly) c.9347T>G (p.Val3116Gly) n.16245T>G | |
5 | g.90823458C>A | CA445436468 | ADGRV1 | c.16230C>A (p.Val5410=) c.5184C>A (p.Val1728=) n.3497C>A c.265+147249C>A (n.265+147249C>A) n.128+1276C>A c.2640C>A (p.Val880=) c.3213C>A (p.Val1071=) n.16243C>A c.16227C>A (p.Val5409=) c.16149C>A (p.Val5383=) c.13533C>A (p.Val4511=) c.16251C>A (p.Val5417=) c.16248C>A (p.Val5416=) c.16170C>A (p.Val5390=) c.16155C>A (p.Val5385=) c.16071C>A (p.Val5357=) c.9369C>A (p.Val3123=) c.9348C>A (p.Val3116=) n.16246C>A | |
5 | g.90823458C= | CA1562918250 | ADGRV1 | c.16230C= (p.Val5410=) c.5184C= (p.Val1728=) n.3497C= c.265+147249C= (n.265+147249C=) n.128+1276C= c.2640C= (p.Val880=) c.3213C= (p.Val1071=) n.16243C= c.16227C= (p.Val5409=) c.16149C= (p.Val5383=) c.13533C= (p.Val4511=) c.16251C= (p.Val5417=) c.16248C= (p.Val5416=) c.16170C= (p.Val5390=) c.16155C= (p.Val5385=) c.16071C= (p.Val5357=) c.9369C= (p.Val3123=) c.9348C= (p.Val3116=) n.16246C= | |
5 | g.90823458C>G | CA445436469 | ADGRV1 | c.16230C>G (p.Val5410=) c.5184C>G (p.Val1728=) n.3497C>G c.265+147249C>G (n.265+147249C>G) n.128+1276C>G c.2640C>G (p.Val880=) c.3213C>G (p.Val1071=) n.16243C>G c.16227C>G (p.Val5409=) c.16149C>G (p.Val5383=) c.13533C>G (p.Val4511=) c.16251C>G (p.Val5417=) c.16248C>G (p.Val5416=) c.16170C>G (p.Val5390=) c.16155C>G (p.Val5385=) c.16071C>G (p.Val5357=) c.9369C>G (p.Val3123=) c.9348C>G (p.Val3116=) n.16246C>G | ClinVar dbSNP gnomAD v4 |
5 | g.90823458C>T | CA122804064 | ADGRV1 | c.16230C>T (p.Val5410=) c.5184C>T (p.Val1728=) n.3497C>T c.265+147249C>T (n.265+147249C>T) n.128+1276C>T c.2640C>T (p.Val880=) c.3213C>T (p.Val1071=) n.16243C>T c.16227C>T (p.Val5409=) c.16149C>T (p.Val5383=) c.13533C>T (p.Val4511=) c.16251C>T (p.Val5417=) c.16248C>T (p.Val5416=) c.16170C>T (p.Val5390=) c.16155C>T (p.Val5385=) c.16071C>T (p.Val5357=) c.9369C>T (p.Val3123=) c.9348C>T (p.Val3116=) n.16246C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.90823459A>C | CA360425510 | ADGRV1 | c.16231A>C (p.Thr5411Pro) c.5185A>C (p.Thr1729Pro) n.3498A>C c.265+147250A>C (n.265+147250A>C) n.128+1277A>C c.2641A>C (p.Thr881Pro) c.3214A>C (p.Thr1072Pro) n.16244A>C c.16228A>C (p.Thr5410Pro) c.16150A>C (p.Thr5384Pro) c.13534A>C (p.Thr4512Pro) c.16252A>C (p.Thr5418Pro) c.16249A>C (p.Thr5417Pro) c.16171A>C (p.Thr5391Pro) c.16156A>C (p.Thr5386Pro) c.16072A>C (p.Thr5358Pro) c.9370A>C (p.Thr3124Pro) c.9349A>C (p.Thr3117Pro) n.16247A>C | |
5 | g.90823459A>G | CA360425511 | ADGRV1 | c.16231A>G (p.Thr5411Ala) c.5185A>G (p.Thr1729Ala) n.3498A>G c.265+147250A>G (n.265+147250A>G) n.128+1277A>G c.2641A>G (p.Thr881Ala) c.3214A>G (p.Thr1072Ala) n.16244A>G c.16228A>G (p.Thr5410Ala) c.16150A>G (p.Thr5384Ala) c.13534A>G (p.Thr4512Ala) c.16252A>G (p.Thr5418Ala) c.16249A>G (p.Thr5417Ala) c.16171A>G (p.Thr5391Ala) c.16156A>G (p.Thr5386Ala) c.16072A>G (p.Thr5358Ala) c.9370A>G (p.Thr3124Ala) c.9349A>G (p.Thr3117Ala) n.16247A>G | |
5 | g.90823459A>T | CA360425512 | ADGRV1 | c.16231A>T (p.Thr5411Ser) c.5185A>T (p.Thr1729Ser) n.3498A>T c.265+147250A>T (n.265+147250A>T) n.128+1277A>T c.2641A>T (p.Thr881Ser) c.3214A>T (p.Thr1072Ser) n.16244A>T c.16228A>T (p.Thr5410Ser) c.16150A>T (p.Thr5384Ser) c.13534A>T (p.Thr4512Ser) c.16252A>T (p.Thr5418Ser) c.16249A>T (p.Thr5417Ser) c.16171A>T (p.Thr5391Ser) c.16156A>T (p.Thr5386Ser) c.16072A>T (p.Thr5358Ser) c.9370A>T (p.Thr3124Ser) c.9349A>T (p.Thr3117Ser) n.16247A>T | |
5 | g.90823460C>A | CA3342091 | ADGRV1 | c.16232C>A (p.Thr5411Lys) c.5186C>A (p.Thr1729Lys) n.3499C>A c.265+147251C>A (n.265+147251C>A) n.128+1278C>A c.2642C>A (p.Thr881Lys) c.3215C>A (p.Thr1072Lys) n.16245C>A c.16229C>A (p.Thr5410Lys) c.16151C>A (p.Thr5384Lys) c.13535C>A (p.Thr4512Lys) c.16253C>A (p.Thr5418Lys) c.16250C>A (p.Thr5417Lys) c.16172C>A (p.Thr5391Lys) c.16157C>A (p.Thr5386Lys) c.16073C>A (p.Thr5358Lys) c.9371C>A (p.Thr3124Lys) c.9350C>A (p.Thr3117Lys) n.16248C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823460C= | CA1562918251 | ADGRV1 | c.16232C= (p.Thr5411=) c.5186C= (p.Thr1729=) n.3499C= c.265+147251C= (n.265+147251C=) n.128+1278C= c.2642C= (p.Thr881=) c.3215C= (p.Thr1072=) n.16245C= c.16229C= (p.Thr5410=) c.16151C= (p.Thr5384=) c.13535C= (p.Thr4512=) c.16253C= (p.Thr5418=) c.16250C= (p.Thr5417=) c.16172C= (p.Thr5391=) c.16157C= (p.Thr5386=) c.16073C= (p.Thr5358=) c.9371C= (p.Thr3124=) c.9350C= (p.Thr3117=) n.16248C= | |
5 | g.90823460C>G | CA360425514 | ADGRV1 | c.16232C>G (p.Thr5411Arg) c.5186C>G (p.Thr1729Arg) n.3499C>G c.265+147251C>G (n.265+147251C>G) n.128+1278C>G c.2642C>G (p.Thr881Arg) c.3215C>G (p.Thr1072Arg) n.16245C>G c.16229C>G (p.Thr5410Arg) c.16151C>G (p.Thr5384Arg) c.13535C>G (p.Thr4512Arg) c.16253C>G (p.Thr5418Arg) c.16250C>G (p.Thr5417Arg) c.16172C>G (p.Thr5391Arg) c.16157C>G (p.Thr5386Arg) c.16073C>G (p.Thr5358Arg) c.9371C>G (p.Thr3124Arg) c.9350C>G (p.Thr3117Arg) n.16248C>G | |
5 | g.90823460C>T | CA360425513 | ADGRV1 | c.16232C>T (p.Thr5411Ile) c.5186C>T (p.Thr1729Ile) n.3499C>T c.265+147251C>T (n.265+147251C>T) n.128+1278C>T c.2642C>T (p.Thr881Ile) c.3215C>T (p.Thr1072Ile) n.16245C>T c.16229C>T (p.Thr5410Ile) c.16151C>T (p.Thr5384Ile) c.13535C>T (p.Thr4512Ile) c.16253C>T (p.Thr5418Ile) c.16250C>T (p.Thr5417Ile) c.16172C>T (p.Thr5391Ile) c.16157C>T (p.Thr5386Ile) c.16073C>T (p.Thr5358Ile) c.9371C>T (p.Thr3124Ile) c.9350C>T (p.Thr3117Ile) n.16248C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823461A= | CA1562918252 | ADGRV1 | c.16233A= (p.Thr5411=) c.5187A= (p.Thr1729=) n.3500A= c.265+147252A= (n.265+147252A=) n.128+1279A= c.2643A= (p.Thr881=) c.3216A= (p.Thr1072=) n.16246A= c.16230A= (p.Thr5410=) c.16152A= (p.Thr5384=) c.13536A= (p.Thr4512=) c.16254A= (p.Thr5418=) c.16251A= (p.Thr5417=) c.16173A= (p.Thr5391=) c.16158A= (p.Thr5386=) c.16074A= (p.Thr5358=) c.9372A= (p.Thr3124=) c.9351A= (p.Thr3117=) n.16249A= | |
5 | g.90823461A>C | CA445436477 | ADGRV1 | c.16233A>C (p.Thr5411=) c.5187A>C (p.Thr1729=) n.3500A>C c.265+147252A>C (n.265+147252A>C) n.128+1279A>C c.2643A>C (p.Thr881=) c.3216A>C (p.Thr1072=) n.16246A>C c.16230A>C (p.Thr5410=) c.16152A>C (p.Thr5384=) c.13536A>C (p.Thr4512=) c.16254A>C (p.Thr5418=) c.16251A>C (p.Thr5417=) c.16173A>C (p.Thr5391=) c.16158A>C (p.Thr5386=) c.16074A>C (p.Thr5358=) c.9372A>C (p.Thr3124=) c.9351A>C (p.Thr3117=) n.16249A>C | ClinVar |
5 | g.90823461A>G | CA445436479 | ADGRV1 | c.16233A>G (p.Thr5411=) c.5187A>G (p.Thr1729=) n.3500A>G c.265+147252A>G (n.265+147252A>G) n.128+1279A>G c.2643A>G (p.Thr881=) c.3216A>G (p.Thr1072=) n.16246A>G c.16230A>G (p.Thr5410=) c.16152A>G (p.Thr5384=) c.13536A>G (p.Thr4512=) c.16254A>G (p.Thr5418=) c.16251A>G (p.Thr5417=) c.16173A>G (p.Thr5391=) c.16158A>G (p.Thr5386=) c.16074A>G (p.Thr5358=) c.9372A>G (p.Thr3124=) c.9351A>G (p.Thr3117=) n.16249A>G | dbSNP |
5 | g.90823461A>T | CA445436481 | ADGRV1 | c.16233A>T (p.Thr5411=) c.5187A>T (p.Thr1729=) n.3500A>T c.265+147252A>T (n.265+147252A>T) n.128+1279A>T c.2643A>T (p.Thr881=) c.3216A>T (p.Thr1072=) n.16246A>T c.16230A>T (p.Thr5410=) c.16152A>T (p.Thr5384=) c.13536A>T (p.Thr4512=) c.16254A>T (p.Thr5418=) c.16251A>T (p.Thr5417=) c.16173A>T (p.Thr5391=) c.16158A>T (p.Thr5386=) c.16074A>T (p.Thr5358=) c.9372A>T (p.Thr3124=) c.9351A>T (p.Thr3117=) n.16249A>T | |
5 | g.90823462C>A | CA360425515 | ADGRV1 | c.16234C>A (p.Leu5412Ile) c.5188C>A (p.Leu1730Ile) n.3501C>A c.265+147253C>A (n.265+147253C>A) n.128+1280C>A c.2644C>A (p.Leu882Ile) c.3217C>A (p.Leu1073Ile) n.16247C>A c.16231C>A (p.Leu5411Ile) c.16153C>A (p.Leu5385Ile) c.13537C>A (p.Leu4513Ile) c.16255C>A (p.Leu5419Ile) c.16252C>A (p.Leu5418Ile) c.16174C>A (p.Leu5392Ile) c.16159C>A (p.Leu5387Ile) c.16075C>A (p.Leu5359Ile) c.9373C>A (p.Leu3125Ile) c.9352C>A (p.Leu3118Ile) n.16250C>A | dbSNP gnomAD v4 |
5 | g.90823462C= | CA1562918253 | ADGRV1 | c.16234C= (p.Leu5412=) c.5188C= (p.Leu1730=) n.3501C= c.265+147253C= (n.265+147253C=) n.128+1280C= c.2644C= (p.Leu882=) c.3217C= (p.Leu1073=) n.16247C= c.16231C= (p.Leu5411=) c.16153C= (p.Leu5385=) c.13537C= (p.Leu4513=) c.16255C= (p.Leu5419=) c.16252C= (p.Leu5418=) c.16174C= (p.Leu5392=) c.16159C= (p.Leu5387=) c.16075C= (p.Leu5359=) c.9373C= (p.Leu3125=) c.9352C= (p.Leu3118=) n.16250C= | |
5 | g.90823462C>G | CA360425516 | ADGRV1 | c.16234C>G (p.Leu5412Val) c.5188C>G (p.Leu1730Val) n.3501C>G c.265+147253C>G (n.265+147253C>G) n.128+1280C>G c.2644C>G (p.Leu882Val) c.3217C>G (p.Leu1073Val) n.16247C>G c.16231C>G (p.Leu5411Val) c.16153C>G (p.Leu5385Val) c.13537C>G (p.Leu4513Val) c.16255C>G (p.Leu5419Val) c.16252C>G (p.Leu5418Val) c.16174C>G (p.Leu5392Val) c.16159C>G (p.Leu5387Val) c.16075C>G (p.Leu5359Val) c.9373C>G (p.Leu3125Val) c.9352C>G (p.Leu3118Val) n.16250C>G | |
5 | g.90823462C>T | CA360425517 | ADGRV1 | c.16234C>T (p.Leu5412Phe) c.5188C>T (p.Leu1730Phe) n.3501C>T c.265+147253C>T (n.265+147253C>T) n.128+1280C>T c.2644C>T (p.Leu882Phe) c.3217C>T (p.Leu1073Phe) n.16247C>T c.16231C>T (p.Leu5411Phe) c.16153C>T (p.Leu5385Phe) c.13537C>T (p.Leu4513Phe) c.16255C>T (p.Leu5419Phe) c.16252C>T (p.Leu5418Phe) c.16174C>T (p.Leu5392Phe) c.16159C>T (p.Leu5387Phe) c.16075C>T (p.Leu5359Phe) c.9373C>T (p.Leu3125Phe) c.9352C>T (p.Leu3118Phe) n.16250C>T | gnomAD v4 |
5 | g.90823463T>A | CA360425518 | ADGRV1 | c.16235T>A (p.Leu5412His) c.5189T>A (p.Leu1730His) n.3502T>A c.265+147254T>A (n.265+147254T>A) n.128+1281T>A c.2645T>A (p.Leu882His) c.3218T>A (p.Leu1073His) n.16248T>A c.16232T>A (p.Leu5411His) c.16154T>A (p.Leu5385His) c.13538T>A (p.Leu4513His) c.16256T>A (p.Leu5419His) c.16253T>A (p.Leu5418His) c.16175T>A (p.Leu5392His) c.16160T>A (p.Leu5387His) c.16076T>A (p.Leu5359His) c.9374T>A (p.Leu3125His) c.9353T>A (p.Leu3118His) n.16251T>A | |
5 | g.90823463T>C | CA360425519 | ADGRV1 | c.16235T>C (p.Leu5412Pro) c.5189T>C (p.Leu1730Pro) n.3502T>C c.265+147254T>C (n.265+147254T>C) n.128+1281T>C c.2645T>C (p.Leu882Pro) c.3218T>C (p.Leu1073Pro) n.16248T>C c.16232T>C (p.Leu5411Pro) c.16154T>C (p.Leu5385Pro) c.13538T>C (p.Leu4513Pro) c.16256T>C (p.Leu5419Pro) c.16253T>C (p.Leu5418Pro) c.16175T>C (p.Leu5392Pro) c.16160T>C (p.Leu5387Pro) c.16076T>C (p.Leu5359Pro) c.9374T>C (p.Leu3125Pro) c.9353T>C (p.Leu3118Pro) n.16251T>C | |
5 | g.90823463T>G | CA360425520 | ADGRV1 | c.16235T>G (p.Leu5412Arg) c.5189T>G (p.Leu1730Arg) n.3502T>G c.265+147254T>G (n.265+147254T>G) n.128+1281T>G c.2645T>G (p.Leu882Arg) c.3218T>G (p.Leu1073Arg) n.16248T>G c.16232T>G (p.Leu5411Arg) c.16154T>G (p.Leu5385Arg) c.13538T>G (p.Leu4513Arg) c.16256T>G (p.Leu5419Arg) c.16253T>G (p.Leu5418Arg) c.16175T>G (p.Leu5392Arg) c.16160T>G (p.Leu5387Arg) c.16076T>G (p.Leu5359Arg) c.9374T>G (p.Leu3125Arg) c.9353T>G (p.Leu3118Arg) n.16251T>G | |
5 | g.90823464T>A | CA445436487 | ADGRV1 | c.16236T>A (p.Leu5412=) c.5190T>A (p.Leu1730=) n.3503T>A c.265+147255T>A (n.265+147255T>A) n.128+1282T>A c.2646T>A (p.Leu882=) c.3219T>A (p.Leu1073=) n.16249T>A c.16233T>A (p.Leu5411=) c.16155T>A (p.Leu5385=) c.13539T>A (p.Leu4513=) c.16257T>A (p.Leu5419=) c.16254T>A (p.Leu5418=) c.16176T>A (p.Leu5392=) c.16161T>A (p.Leu5387=) c.16077T>A (p.Leu5359=) c.9375T>A (p.Leu3125=) c.9354T>A (p.Leu3118=) n.16252T>A | |
5 | g.90823464T>C | CA445436489 | ADGRV1 | c.16236T>C (p.Leu5412=) c.5190T>C (p.Leu1730=) n.3503T>C c.265+147255T>C (n.265+147255T>C) n.128+1282T>C c.2646T>C (p.Leu882=) c.3219T>C (p.Leu1073=) n.16249T>C c.16233T>C (p.Leu5411=) c.16155T>C (p.Leu5385=) c.13539T>C (p.Leu4513=) c.16257T>C (p.Leu5419=) c.16254T>C (p.Leu5418=) c.16176T>C (p.Leu5392=) c.16161T>C (p.Leu5387=) c.16077T>C (p.Leu5359=) c.9375T>C (p.Leu3125=) c.9354T>C (p.Leu3118=) n.16252T>C | |
5 | g.90823464T>G | CA445436490 | ADGRV1 | c.16236T>G (p.Leu5412=) c.5190T>G (p.Leu1730=) n.3503T>G c.265+147255T>G (n.265+147255T>G) n.128+1282T>G c.2646T>G (p.Leu882=) c.3219T>G (p.Leu1073=) n.16249T>G c.16233T>G (p.Leu5411=) c.16155T>G (p.Leu5385=) c.13539T>G (p.Leu4513=) c.16257T>G (p.Leu5419=) c.16254T>G (p.Leu5418=) c.16176T>G (p.Leu5392=) c.16161T>G (p.Leu5387=) c.16077T>G (p.Leu5359=) c.9375T>G (p.Leu3125=) c.9354T>G (p.Leu3118=) n.16252T>G | |
5 | g.90823465A>C | CA360425523 | ADGRV1 | c.16237A>C (p.Asn5413His) c.5191A>C (p.Asn1731His) n.3504A>C c.265+147256A>C (n.265+147256A>C) n.128+1283A>C c.2647A>C (p.Asn883His) c.3220A>C (p.Asn1074His) n.16250A>C c.16234A>C (p.Asn5412His) c.16156A>C (p.Asn5386His) c.13540A>C (p.Asn4514His) c.16258A>C (p.Asn5420His) c.16255A>C (p.Asn5419His) c.16177A>C (p.Asn5393His) c.16162A>C (p.Asn5388His) c.16078A>C (p.Asn5360His) c.9376A>C (p.Asn3126His) c.9355A>C (p.Asn3119His) n.16253A>C | |
5 | g.90823465A>G | CA360425521 | ADGRV1 | c.16237A>G (p.Asn5413Asp) c.5191A>G (p.Asn1731Asp) n.3504A>G c.265+147256A>G (n.265+147256A>G) n.128+1283A>G c.2647A>G (p.Asn883Asp) c.3220A>G (p.Asn1074Asp) n.16250A>G c.16234A>G (p.Asn5412Asp) c.16156A>G (p.Asn5386Asp) c.13540A>G (p.Asn4514Asp) c.16258A>G (p.Asn5420Asp) c.16255A>G (p.Asn5419Asp) c.16177A>G (p.Asn5393Asp) c.16162A>G (p.Asn5388Asp) c.16078A>G (p.Asn5360Asp) c.9376A>G (p.Asn3126Asp) c.9355A>G (p.Asn3119Asp) n.16253A>G | |
5 | g.90823465A>T | CA360425522 | ADGRV1 | c.16237A>T (p.Asn5413Tyr) c.5191A>T (p.Asn1731Tyr) n.3504A>T c.265+147256A>T (n.265+147256A>T) n.128+1283A>T c.2647A>T (p.Asn883Tyr) c.3220A>T (p.Asn1074Tyr) n.16250A>T c.16234A>T (p.Asn5412Tyr) c.16156A>T (p.Asn5386Tyr) c.13540A>T (p.Asn4514Tyr) c.16258A>T (p.Asn5420Tyr) c.16255A>T (p.Asn5419Tyr) c.16177A>T (p.Asn5393Tyr) c.16162A>T (p.Asn5388Tyr) c.16078A>T (p.Asn5360Tyr) c.9376A>T (p.Asn3126Tyr) c.9355A>T (p.Asn3119Tyr) n.16253A>T | |
5 | g.90823466A>C | CA360425524 | ADGRV1 | c.16238A>C (p.Asn5413Thr) c.5192A>C (p.Asn1731Thr) n.3505A>C c.265+147257A>C (n.265+147257A>C) n.128+1284A>C c.2648A>C (p.Asn883Thr) c.3221A>C (p.Asn1074Thr) n.16251A>C c.16235A>C (p.Asn5412Thr) c.16157A>C (p.Asn5386Thr) c.13541A>C (p.Asn4514Thr) c.16259A>C (p.Asn5420Thr) c.16256A>C (p.Asn5419Thr) c.16178A>C (p.Asn5393Thr) c.16163A>C (p.Asn5388Thr) c.16079A>C (p.Asn5360Thr) c.9377A>C (p.Asn3126Thr) c.9356A>C (p.Asn3119Thr) n.16254A>C | gnomAD v4 |
5 | g.90823466A>G | CA360425525 | ADGRV1 | c.16238A>G (p.Asn5413Ser) c.5192A>G (p.Asn1731Ser) n.3505A>G c.265+147257A>G (n.265+147257A>G) n.128+1284A>G c.2648A>G (p.Asn883Ser) c.3221A>G (p.Asn1074Ser) n.16251A>G c.16235A>G (p.Asn5412Ser) c.16157A>G (p.Asn5386Ser) c.13541A>G (p.Asn4514Ser) c.16259A>G (p.Asn5420Ser) c.16256A>G (p.Asn5419Ser) c.16178A>G (p.Asn5393Ser) c.16163A>G (p.Asn5388Ser) c.16079A>G (p.Asn5360Ser) c.9377A>G (p.Asn3126Ser) c.9356A>G (p.Asn3119Ser) n.16254A>G | |
5 | g.90823466A>T | CA360425526 | ADGRV1 | c.16238A>T (p.Asn5413Ile) c.5192A>T (p.Asn1731Ile) n.3505A>T c.265+147257A>T (n.265+147257A>T) n.128+1284A>T c.2648A>T (p.Asn883Ile) c.3221A>T (p.Asn1074Ile) n.16251A>T c.16235A>T (p.Asn5412Ile) c.16157A>T (p.Asn5386Ile) c.13541A>T (p.Asn4514Ile) c.16259A>T (p.Asn5420Ile) c.16256A>T (p.Asn5419Ile) c.16178A>T (p.Asn5393Ile) c.16163A>T (p.Asn5388Ile) c.16079A>T (p.Asn5360Ile) c.9377A>T (p.Asn3126Ile) c.9356A>T (p.Asn3119Ile) n.16254A>T | |
5 | g.90823467C>A | CA360425527 | ADGRV1 | c.16239C>A (p.Asn5413Lys) c.5193C>A (p.Asn1731Lys) n.3506C>A c.265+147258C>A (n.265+147258C>A) n.128+1285C>A c.2649C>A (p.Asn883Lys) c.3222C>A (p.Asn1074Lys) n.16252C>A c.16236C>A (p.Asn5412Lys) c.16158C>A (p.Asn5386Lys) c.13542C>A (p.Asn4514Lys) c.16260C>A (p.Asn5420Lys) c.16257C>A (p.Asn5419Lys) c.16179C>A (p.Asn5393Lys) c.16164C>A (p.Asn5388Lys) c.16080C>A (p.Asn5360Lys) c.9378C>A (p.Asn3126Lys) c.9357C>A (p.Asn3119Lys) n.16255C>A | gnomAD v4 |
5 | g.90823467C= | CA1562918254 | ADGRV1 | c.16239C= (p.Asn5413=) c.5193C= (p.Asn1731=) n.3506C= c.265+147258C= (n.265+147258C=) n.128+1285C= c.2649C= (p.Asn883=) c.3222C= (p.Asn1074=) n.16252C= c.16236C= (p.Asn5412=) c.16158C= (p.Asn5386=) c.13542C= (p.Asn4514=) c.16260C= (p.Asn5420=) c.16257C= (p.Asn5419=) c.16179C= (p.Asn5393=) c.16164C= (p.Asn5388=) c.16080C= (p.Asn5360=) c.9378C= (p.Asn3126=) c.9357C= (p.Asn3119=) n.16255C= | |
5 | g.90823467C>G | CA122804067 | ADGRV1 | c.16239C>G (p.Asn5413Lys) c.5193C>G (p.Asn1731Lys) n.3506C>G c.265+147258C>G (n.265+147258C>G) n.128+1285C>G c.2649C>G (p.Asn883Lys) c.3222C>G (p.Asn1074Lys) n.16252C>G c.16236C>G (p.Asn5412Lys) c.16158C>G (p.Asn5386Lys) c.13542C>G (p.Asn4514Lys) c.16260C>G (p.Asn5420Lys) c.16257C>G (p.Asn5419Lys) c.16179C>G (p.Asn5393Lys) c.16164C>G (p.Asn5388Lys) c.16080C>G (p.Asn5360Lys) c.9378C>G (p.Asn3126Lys) c.9357C>G (p.Asn3119Lys) n.16255C>G | dbSNP gnomAD v4 |
5 | g.90823467C>T | CA445436498 | ADGRV1 | c.16239C>T (p.Asn5413=) c.5193C>T (p.Asn1731=) n.3506C>T c.265+147258C>T (n.265+147258C>T) n.128+1285C>T c.2649C>T (p.Asn883=) c.3222C>T (p.Asn1074=) n.16252C>T c.16236C>T (p.Asn5412=) c.16158C>T (p.Asn5386=) c.13542C>T (p.Asn4514=) c.16260C>T (p.Asn5420=) c.16257C>T (p.Asn5419=) c.16179C>T (p.Asn5393=) c.16164C>T (p.Asn5388=) c.16080C>T (p.Asn5360=) c.9378C>T (p.Asn3126=) c.9357C>T (p.Asn3119=) n.16255C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823468A= | CA1562918255 | ADGRV1 | c.16240A= (p.Lys5414=) c.5194A= (p.Lys1732=) n.3507A= c.265+147259A= (n.265+147259A=) n.128+1286A= c.2650A= (p.Lys884=) c.3223A= (p.Lys1075=) n.16253A= c.16237A= (p.Lys5413=) c.16159A= (p.Lys5387=) c.13543A= (p.Lys4515=) c.16261A= (p.Lys5421=) c.16258A= (p.Lys5420=) c.16180A= (p.Lys5394=) c.16165A= (p.Lys5389=) c.16081A= (p.Lys5361=) c.9379A= (p.Lys3127=) c.9358A= (p.Lys3120=) n.16256A= | |
5 | g.90823468A>C | CA360425528 | ADGRV1 | c.16240A>C (p.Lys5414Gln) c.5194A>C (p.Lys1732Gln) n.3507A>C c.265+147259A>C (n.265+147259A>C) n.128+1286A>C c.2650A>C (p.Lys884Gln) c.3223A>C (p.Lys1075Gln) n.16253A>C c.16237A>C (p.Lys5413Gln) c.16159A>C (p.Lys5387Gln) c.13543A>C (p.Lys4515Gln) c.16261A>C (p.Lys5421Gln) c.16258A>C (p.Lys5420Gln) c.16180A>C (p.Lys5394Gln) c.16165A>C (p.Lys5389Gln) c.16081A>C (p.Lys5361Gln) c.9379A>C (p.Lys3127Gln) c.9358A>C (p.Lys3120Gln) n.16256A>C | |
5 | g.90823468A>G | CA122804070 | ADGRV1 | c.16240A>G (p.Lys5414Glu) c.5194A>G (p.Lys1732Glu) n.3507A>G c.265+147259A>G (n.265+147259A>G) n.128+1286A>G c.2650A>G (p.Lys884Glu) c.3223A>G (p.Lys1075Glu) n.16253A>G c.16237A>G (p.Lys5413Glu) c.16159A>G (p.Lys5387Glu) c.13543A>G (p.Lys4515Glu) c.16261A>G (p.Lys5421Glu) c.16258A>G (p.Lys5420Glu) c.16180A>G (p.Lys5394Glu) c.16165A>G (p.Lys5389Glu) c.16081A>G (p.Lys5361Glu) c.9379A>G (p.Lys3127Glu) c.9358A>G (p.Lys3120Glu) n.16256A>G | dbSNP |
5 | g.90823468A>T | CA360425529 | ADGRV1 | c.16240A>T (p.Lys5414Ter) c.5194A>T (p.Lys1732Ter) n.3507A>T c.265+147259A>T (n.265+147259A>T) n.128+1286A>T c.2650A>T (p.Lys884Ter) c.3223A>T (p.Lys1075Ter) n.16253A>T c.16237A>T (p.Lys5413Ter) c.16159A>T (p.Lys5387Ter) c.13543A>T (p.Lys4515Ter) c.16261A>T (p.Lys5421Ter) c.16258A>T (p.Lys5420Ter) c.16180A>T (p.Lys5394Ter) c.16165A>T (p.Lys5389Ter) c.16081A>T (p.Lys5361Ter) c.9379A>T (p.Lys3127Ter) c.9358A>T (p.Lys3120Ter) n.16256A>T | dbSNP |
5 | g.90823469A= | CA1562918256 | ADGRV1 | c.16241A= (p.Lys5414=) c.5195A= (p.Lys1732=) n.3508A= c.265+147260A= (n.265+147260A=) n.128+1287A= c.2651A= (p.Lys884=) c.3224A= (p.Lys1075=) n.16254A= c.16238A= (p.Lys5413=) c.16160A= (p.Lys5387=) c.13544A= (p.Lys4515=) c.16262A= (p.Lys5421=) c.16259A= (p.Lys5420=) c.16181A= (p.Lys5394=) c.16166A= (p.Lys5389=) c.16082A= (p.Lys5361=) c.9380A= (p.Lys3127=) c.9359A= (p.Lys3120=) n.16257A= | |
5 | g.90823469A>C | CA122804073 | ADGRV1 | c.16241A>C (p.Lys5414Thr) c.5195A>C (p.Lys1732Thr) n.3508A>C c.265+147260A>C (n.265+147260A>C) n.128+1287A>C c.2651A>C (p.Lys884Thr) c.3224A>C (p.Lys1075Thr) n.16254A>C c.16238A>C (p.Lys5413Thr) c.16160A>C (p.Lys5387Thr) c.13544A>C (p.Lys4515Thr) c.16262A>C (p.Lys5421Thr) c.16259A>C (p.Lys5420Thr) c.16181A>C (p.Lys5394Thr) c.16166A>C (p.Lys5389Thr) c.16082A>C (p.Lys5361Thr) c.9380A>C (p.Lys3127Thr) c.9359A>C (p.Lys3120Thr) n.16257A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823469A>G | CA360425530 | ADGRV1 | c.16241A>G (p.Lys5414Arg) c.5195A>G (p.Lys1732Arg) n.3508A>G c.265+147260A>G (n.265+147260A>G) n.128+1287A>G c.2651A>G (p.Lys884Arg) c.3224A>G (p.Lys1075Arg) n.16254A>G c.16238A>G (p.Lys5413Arg) c.16160A>G (p.Lys5387Arg) c.13544A>G (p.Lys4515Arg) c.16262A>G (p.Lys5421Arg) c.16259A>G (p.Lys5420Arg) c.16181A>G (p.Lys5394Arg) c.16166A>G (p.Lys5389Arg) c.16082A>G (p.Lys5361Arg) c.9380A>G (p.Lys3127Arg) c.9359A>G (p.Lys3120Arg) n.16257A>G | |
5 | g.90823469A>T | CA360425531 | ADGRV1 | c.16241A>T (p.Lys5414Ile) c.5195A>T (p.Lys1732Ile) n.3508A>T c.265+147260A>T (n.265+147260A>T) n.128+1287A>T c.2651A>T (p.Lys884Ile) c.3224A>T (p.Lys1075Ile) n.16254A>T c.16238A>T (p.Lys5413Ile) c.16160A>T (p.Lys5387Ile) c.13544A>T (p.Lys4515Ile) c.16262A>T (p.Lys5421Ile) c.16259A>T (p.Lys5420Ile) c.16181A>T (p.Lys5394Ile) c.16166A>T (p.Lys5389Ile) c.16082A>T (p.Lys5361Ile) c.9380A>T (p.Lys3127Ile) c.9359A>T (p.Lys3120Ile) n.16257A>T | |
5 | g.90823470A= | CA1562918257 | ADGRV1 | c.16242A= (p.Lys5414=) c.5196A= (p.Lys1732=) n.3509A= c.265+147261A= (n.265+147261A=) n.128+1288A= c.2652A= (p.Lys884=) c.3225A= (p.Lys1075=) n.16255A= c.16239A= (p.Lys5413=) c.16161A= (p.Lys5387=) c.13545A= (p.Lys4515=) c.16263A= (p.Lys5421=) c.16260A= (p.Lys5420=) c.16182A= (p.Lys5394=) c.16167A= (p.Lys5389=) c.16083A= (p.Lys5361=) c.9381A= (p.Lys3127=) c.9360A= (p.Lys3120=) n.16258A= | |
5 | g.90823470A>C | CA360425532 | ADGRV1 | c.16242A>C (p.Lys5414Asn) c.5196A>C (p.Lys1732Asn) n.3509A>C c.265+147261A>C (n.265+147261A>C) n.128+1288A>C c.2652A>C (p.Lys884Asn) c.3225A>C (p.Lys1075Asn) n.16255A>C c.16239A>C (p.Lys5413Asn) c.16161A>C (p.Lys5387Asn) c.13545A>C (p.Lys4515Asn) c.16263A>C (p.Lys5421Asn) c.16260A>C (p.Lys5420Asn) c.16182A>C (p.Lys5394Asn) c.16167A>C (p.Lys5389Asn) c.16083A>C (p.Lys5361Asn) c.9381A>C (p.Lys3127Asn) c.9360A>C (p.Lys3120Asn) n.16258A>C | |
5 | g.90823470A>G | CA445436507 | ADGRV1 | c.16242A>G (p.Lys5414=) c.5196A>G (p.Lys1732=) n.3509A>G c.265+147261A>G (n.265+147261A>G) n.128+1288A>G c.2652A>G (p.Lys884=) c.3225A>G (p.Lys1075=) n.16255A>G c.16239A>G (p.Lys5413=) c.16161A>G (p.Lys5387=) c.13545A>G (p.Lys4515=) c.16263A>G (p.Lys5421=) c.16260A>G (p.Lys5420=) c.16182A>G (p.Lys5394=) c.16167A>G (p.Lys5389=) c.16083A>G (p.Lys5361=) c.9381A>G (p.Lys3127=) c.9360A>G (p.Lys3120=) n.16258A>G | |
5 | g.90823470A>T | CA122804074 | ADGRV1 | c.16242A>T (p.Lys5414Asn) c.5196A>T (p.Lys1732Asn) n.3509A>T c.265+147261A>T (n.265+147261A>T) n.128+1288A>T c.2652A>T (p.Lys884Asn) c.3225A>T (p.Lys1075Asn) n.16255A>T c.16239A>T (p.Lys5413Asn) c.16161A>T (p.Lys5387Asn) c.13545A>T (p.Lys4515Asn) c.16263A>T (p.Lys5421Asn) c.16260A>T (p.Lys5420Asn) c.16182A>T (p.Lys5394Asn) c.16167A>T (p.Lys5389Asn) c.16083A>T (p.Lys5361Asn) c.9381A>T (p.Lys3127Asn) c.9360A>T (p.Lys3120Asn) n.16258A>T | dbSNP |
5 | g.90823471A>C | CA360425533 | ADGRV1 | c.16243A>C (p.Thr5415Pro) c.5197A>C (p.Thr1733Pro) n.3510A>C c.265+147262A>C (n.265+147262A>C) n.128+1289A>C c.2653A>C (p.Thr885Pro) c.3226A>C (p.Thr1076Pro) n.16256A>C c.16240A>C (p.Thr5414Pro) c.16162A>C (p.Thr5388Pro) c.13546A>C (p.Thr4516Pro) c.16264A>C (p.Thr5422Pro) c.16261A>C (p.Thr5421Pro) c.16183A>C (p.Thr5395Pro) c.16168A>C (p.Thr5390Pro) c.16084A>C (p.Thr5362Pro) c.9382A>C (p.Thr3128Pro) c.9361A>C (p.Thr3121Pro) n.16259A>C | |
5 | g.90823471A>G | CA360425534 | ADGRV1 | c.16243A>G (p.Thr5415Ala) c.5197A>G (p.Thr1733Ala) n.3510A>G c.265+147262A>G (n.265+147262A>G) n.128+1289A>G c.2653A>G (p.Thr885Ala) c.3226A>G (p.Thr1076Ala) n.16256A>G c.16240A>G (p.Thr5414Ala) c.16162A>G (p.Thr5388Ala) c.13546A>G (p.Thr4516Ala) c.16264A>G (p.Thr5422Ala) c.16261A>G (p.Thr5421Ala) c.16183A>G (p.Thr5395Ala) c.16168A>G (p.Thr5390Ala) c.16084A>G (p.Thr5362Ala) c.9382A>G (p.Thr3128Ala) c.9361A>G (p.Thr3121Ala) n.16259A>G | gnomAD v4 |
5 | g.90823471A>T | CA360425535 | ADGRV1 | c.16243A>T (p.Thr5415Ser) c.5197A>T (p.Thr1733Ser) n.3510A>T c.265+147262A>T (n.265+147262A>T) n.128+1289A>T c.2653A>T (p.Thr885Ser) c.3226A>T (p.Thr1076Ser) n.16256A>T c.16240A>T (p.Thr5414Ser) c.16162A>T (p.Thr5388Ser) c.13546A>T (p.Thr4516Ser) c.16264A>T (p.Thr5422Ser) c.16261A>T (p.Thr5421Ser) c.16183A>T (p.Thr5395Ser) c.16168A>T (p.Thr5390Ser) c.16084A>T (p.Thr5362Ser) c.9382A>T (p.Thr3128Ser) c.9361A>T (p.Thr3121Ser) n.16259A>T | |
5 | g.90823472C>A | CA360425536 | ADGRV1 | c.16244C>A (p.Thr5415Lys) c.5198C>A (p.Thr1733Lys) n.3511C>A c.265+147263C>A (n.265+147263C>A) n.128+1290C>A c.2654C>A (p.Thr885Lys) c.3227C>A (p.Thr1076Lys) n.16257C>A c.16241C>A (p.Thr5414Lys) c.16163C>A (p.Thr5388Lys) c.13547C>A (p.Thr4516Lys) c.16265C>A (p.Thr5422Lys) c.16262C>A (p.Thr5421Lys) c.16184C>A (p.Thr5395Lys) c.16169C>A (p.Thr5390Lys) c.16085C>A (p.Thr5362Lys) c.9383C>A (p.Thr3128Lys) c.9362C>A (p.Thr3121Lys) n.16260C>A | |
5 | g.90823472C>G | CA360425537 | ADGRV1 | c.16244C>G (p.Thr5415Arg) c.5198C>G (p.Thr1733Arg) n.3511C>G c.265+147263C>G (n.265+147263C>G) n.128+1290C>G c.2654C>G (p.Thr885Arg) c.3227C>G (p.Thr1076Arg) n.16257C>G c.16241C>G (p.Thr5414Arg) c.16163C>G (p.Thr5388Arg) c.13547C>G (p.Thr4516Arg) c.16265C>G (p.Thr5422Arg) c.16262C>G (p.Thr5421Arg) c.16184C>G (p.Thr5395Arg) c.16169C>G (p.Thr5390Arg) c.16085C>G (p.Thr5362Arg) c.9383C>G (p.Thr3128Arg) c.9362C>G (p.Thr3121Arg) n.16260C>G | gnomAD v4 |
5 | g.90823472C>T | CA360425538 | ADGRV1 | c.16244C>T (p.Thr5415Ile) c.5198C>T (p.Thr1733Ile) n.3511C>T c.265+147263C>T (n.265+147263C>T) n.128+1290C>T c.2654C>T (p.Thr885Ile) c.3227C>T (p.Thr1076Ile) n.16257C>T c.16241C>T (p.Thr5414Ile) c.16163C>T (p.Thr5388Ile) c.13547C>T (p.Thr4516Ile) c.16265C>T (p.Thr5422Ile) c.16262C>T (p.Thr5421Ile) c.16184C>T (p.Thr5395Ile) c.16169C>T (p.Thr5390Ile) c.16085C>T (p.Thr5362Ile) c.9383C>T (p.Thr3128Ile) c.9362C>T (p.Thr3121Ile) n.16260C>T | ClinVar |
5 | g.90823473A>C | CA445436515 | ADGRV1 | c.16245A>C (p.Thr5415=) c.5199A>C (p.Thr1733=) n.3512A>C c.265+147264A>C (n.265+147264A>C) n.128+1291A>C c.2655A>C (p.Thr885=) c.3228A>C (p.Thr1076=) n.16258A>C c.16242A>C (p.Thr5414=) c.16164A>C (p.Thr5388=) c.13548A>C (p.Thr4516=) c.16266A>C (p.Thr5422=) c.16263A>C (p.Thr5421=) c.16185A>C (p.Thr5395=) c.16170A>C (p.Thr5390=) c.16086A>C (p.Thr5362=) c.9384A>C (p.Thr3128=) c.9363A>C (p.Thr3121=) n.16261A>C | |
5 | g.90823473A>G | CA445436519 | ADGRV1 | c.16245A>G (p.Thr5415=) c.5199A>G (p.Thr1733=) n.3512A>G c.265+147264A>G (n.265+147264A>G) n.128+1291A>G c.2655A>G (p.Thr885=) c.3228A>G (p.Thr1076=) n.16258A>G c.16242A>G (p.Thr5414=) c.16164A>G (p.Thr5388=) c.13548A>G (p.Thr4516=) c.16266A>G (p.Thr5422=) c.16263A>G (p.Thr5421=) c.16185A>G (p.Thr5395=) c.16170A>G (p.Thr5390=) c.16086A>G (p.Thr5362=) c.9384A>G (p.Thr3128=) c.9363A>G (p.Thr3121=) n.16261A>G | gnomAD v4 |
5 | g.90823473A>T | CA445436517 | ADGRV1 | c.16245A>T (p.Thr5415=) c.5199A>T (p.Thr1733=) n.3512A>T c.265+147264A>T (n.265+147264A>T) n.128+1291A>T c.2655A>T (p.Thr885=) c.3228A>T (p.Thr1076=) n.16258A>T c.16242A>T (p.Thr5414=) c.16164A>T (p.Thr5388=) c.13548A>T (p.Thr4516=) c.16266A>T (p.Thr5422=) c.16263A>T (p.Thr5421=) c.16185A>T (p.Thr5395=) c.16170A>T (p.Thr5390=) c.16086A>T (p.Thr5362=) c.9384A>T (p.Thr3128=) c.9363A>T (p.Thr3121=) n.16261A>T | |
5 | g.90823473_90823476delinsAGTC | CA1562918258 | ADGRV1 | c.16245_16248delinsAGTC (p.Thr5415=) c.5199_5202delinsAGTC (p.Thr1733=) n.3512_3515delinsAGTC c.265+147264_265+147267delinsAGTC (n.265+147264_265+147267delinsAGTC) n.128+1291_128+1294delinsAGTC c.2655_2658delinsAGTC (p.Thr885=) c.3228_3231delinsAGTC (p.Thr1076=) n.16258_16261delinsAGTC c.16242_16245delinsAGTC (p.Thr5414=) c.16164_16167delinsAGTC (p.Thr5388=) c.13548_13551delinsAGTC (p.Thr4516=) c.16266_16269delinsAGTC (p.Thr5422=) c.16263_16266delinsAGTC (p.Thr5421=) c.16185_16188delinsAGTC (p.Thr5395=) c.16170_16173delinsAGTC (p.Thr5390=) c.16086_16089delinsAGTC (p.Thr5362=) c.9384_9387delinsAGTC (p.Thr3128=) c.9363_9366delinsAGTC (p.Thr3121=) n.16261_16264delinsAGTC | |
5 | g.90823474G>A | CA360425540 | ADGRV1 | c.16246G>A (p.Val5416Ile) c.5200G>A (p.Val1734Ile) n.3513G>A c.265+147265G>A (n.265+147265G>A) n.128+1292G>A c.2656G>A (p.Val886Ile) c.3229G>A (p.Val1077Ile) n.16259G>A c.16243G>A (p.Val5415Ile) c.16165G>A (p.Val5389Ile) c.13549G>A (p.Val4517Ile) c.16267G>A (p.Val5423Ile) c.16264G>A (p.Val5422Ile) c.16186G>A (p.Val5396Ile) c.16171G>A (p.Val5391Ile) c.16087G>A (p.Val5363Ile) c.9385G>A (p.Val3129Ile) c.9364G>A (p.Val3122Ile) n.16262G>A | |
5 | g.90823474G>C | CA360425539 | ADGRV1 | c.16246G>C (p.Val5416Leu) c.5200G>C (p.Val1734Leu) n.3513G>C c.265+147265G>C (n.265+147265G>C) n.128+1292G>C c.2656G>C (p.Val886Leu) c.3229G>C (p.Val1077Leu) n.16259G>C c.16243G>C (p.Val5415Leu) c.16165G>C (p.Val5389Leu) c.13549G>C (p.Val4517Leu) c.16267G>C (p.Val5423Leu) c.16264G>C (p.Val5422Leu) c.16186G>C (p.Val5396Leu) c.16171G>C (p.Val5391Leu) c.16087G>C (p.Val5363Leu) c.9385G>C (p.Val3129Leu) c.9364G>C (p.Val3122Leu) n.16262G>C | |
5 | g.90823474G= | CA1562918259 | ADGRV1 | c.16246G= (p.Val5416=) c.5200G= (p.Val1734=) n.3513G= c.265+147265G= (n.265+147265G=) n.128+1292G= c.2656G= (p.Val886=) c.3229G= (p.Val1077=) n.16259G= c.16243G= (p.Val5415=) c.16165G= (p.Val5389=) c.13549G= (p.Val4517=) c.16267G= (p.Val5423=) c.16264G= (p.Val5422=) c.16186G= (p.Val5396=) c.16171G= (p.Val5391=) c.16087G= (p.Val5363=) c.9385G= (p.Val3129=) c.9364G= (p.Val3122=) n.16262G= | |
5 | g.90823474G>T | CA3342092 | ADGRV1 | c.16246G>T (p.Val5416Phe) c.5200G>T (p.Val1734Phe) n.3513G>T c.265+147265G>T (n.265+147265G>T) n.128+1292G>T c.2656G>T (p.Val886Phe) c.3229G>T (p.Val1077Phe) n.16259G>T c.16243G>T (p.Val5415Phe) c.16165G>T (p.Val5389Phe) c.13549G>T (p.Val4517Phe) c.16267G>T (p.Val5423Phe) c.16264G>T (p.Val5422Phe) c.16186G>T (p.Val5396Phe) c.16171G>T (p.Val5391Phe) c.16087G>T (p.Val5363Phe) c.9385G>T (p.Val3129Phe) c.9364G>T (p.Val3122Phe) n.16262G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823479_90823481del | CA561261487 | ADGRV1 | c.16251_16253del (p.Val5418del) c.5205_5207del (p.Val1736del) n.3518_3520del c.265+147270_265+147272del (n.265+147270_265+147272del) n.128+1297_128+1299del c.2661_2663del (p.Val888del) c.3234_3236del (p.Val1079del) n.16264_16266del c.16248_16250del (p.Val5417del) c.16170_16172del (p.Val5391del) c.13554_13556del (p.Val4519del) c.16272_16274del (p.Val5425del) c.16269_16271del (p.Val5424del) c.16191_16193del (p.Val5398del) c.16176_16178del (p.Val5393del) c.16092_16094del (p.Val5365del) c.9390_9392del (p.Val3131del) c.9369_9371del (p.Val3124del) n.16267_16269del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823475T>A | CA360425541 | ADGRV1 | c.16247T>A (p.Val5416Asp) c.5201T>A (p.Val1734Asp) n.3514T>A c.265+147266T>A (n.265+147266T>A) n.128+1293T>A c.2657T>A (p.Val886Asp) c.3230T>A (p.Val1077Asp) n.16260T>A c.16244T>A (p.Val5415Asp) c.16166T>A (p.Val5389Asp) c.13550T>A (p.Val4517Asp) c.16268T>A (p.Val5423Asp) c.16265T>A (p.Val5422Asp) c.16187T>A (p.Val5396Asp) c.16172T>A (p.Val5391Asp) c.16088T>A (p.Val5363Asp) c.9386T>A (p.Val3129Asp) c.9365T>A (p.Val3122Asp) n.16263T>A | |
5 | g.90823475T>C | CA360425543 | ADGRV1 | c.16247T>C (p.Val5416Ala) c.5201T>C (p.Val1734Ala) n.3514T>C c.265+147266T>C (n.265+147266T>C) n.128+1293T>C c.2657T>C (p.Val886Ala) c.3230T>C (p.Val1077Ala) n.16260T>C c.16244T>C (p.Val5415Ala) c.16166T>C (p.Val5389Ala) c.13550T>C (p.Val4517Ala) c.16268T>C (p.Val5423Ala) c.16265T>C (p.Val5422Ala) c.16187T>C (p.Val5396Ala) c.16172T>C (p.Val5391Ala) c.16088T>C (p.Val5363Ala) c.9386T>C (p.Val3129Ala) c.9365T>C (p.Val3122Ala) n.16263T>C | |
5 | g.90823475T>G | CA360425542 | ADGRV1 | c.16247T>G (p.Val5416Gly) c.5201T>G (p.Val1734Gly) n.3514T>G c.265+147266T>G (n.265+147266T>G) n.128+1293T>G c.2657T>G (p.Val886Gly) c.3230T>G (p.Val1077Gly) n.16260T>G c.16244T>G (p.Val5415Gly) c.16166T>G (p.Val5389Gly) c.13550T>G (p.Val4517Gly) c.16268T>G (p.Val5423Gly) c.16265T>G (p.Val5422Gly) c.16187T>G (p.Val5396Gly) c.16172T>G (p.Val5391Gly) c.16088T>G (p.Val5363Gly) c.9386T>G (p.Val3129Gly) c.9365T>G (p.Val3122Gly) n.16263T>G | |
5 | g.90823476C>A | CA445436526 | ADGRV1 | c.16248C>A (p.Val5416=) c.5202C>A (p.Val1734=) n.3515C>A c.265+147267C>A (n.265+147267C>A) n.128+1294C>A c.2658C>A (p.Val886=) c.3231C>A (p.Val1077=) n.16261C>A c.16245C>A (p.Val5415=) c.16167C>A (p.Val5389=) c.13551C>A (p.Val4517=) c.16269C>A (p.Val5423=) c.16266C>A (p.Val5422=) c.16188C>A (p.Val5396=) c.16173C>A (p.Val5391=) c.16089C>A (p.Val5363=) c.9387C>A (p.Val3129=) c.9366C>A (p.Val3122=) n.16264C>A | |
5 | g.90823476C= | CA1562918260 | ADGRV1 | c.16248C= (p.Val5416=) c.5202C= (p.Val1734=) n.3515C= c.265+147267C= (n.265+147267C=) n.128+1294C= c.2658C= (p.Val886=) c.3231C= (p.Val1077=) n.16261C= c.16245C= (p.Val5415=) c.16167C= (p.Val5389=) c.13551C= (p.Val4517=) c.16269C= (p.Val5423=) c.16266C= (p.Val5422=) c.16188C= (p.Val5396=) c.16173C= (p.Val5391=) c.16089C= (p.Val5363=) c.9387C= (p.Val3129=) c.9366C= (p.Val3122=) n.16264C= | |
5 | g.90823476C>G | CA3342093 | ADGRV1 | c.16248C>G (p.Val5416=) c.5202C>G (p.Val1734=) n.3515C>G c.265+147267C>G (n.265+147267C>G) n.128+1294C>G c.2658C>G (p.Val886=) c.3231C>G (p.Val1077=) n.16261C>G c.16245C>G (p.Val5415=) c.16167C>G (p.Val5389=) c.13551C>G (p.Val4517=) c.16269C>G (p.Val5423=) c.16266C>G (p.Val5422=) c.16188C>G (p.Val5396=) c.16173C>G (p.Val5391=) c.16089C>G (p.Val5363=) c.9387C>G (p.Val3129=) c.9366C>G (p.Val3122=) n.16264C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823476C>T | CA138055 | ADGRV1 | c.16248C>T (p.Val5416=) c.5202C>T (p.Val1734=) n.3515C>T c.265+147267C>T (n.265+147267C>T) n.128+1294C>T c.2658C>T (p.Val886=) c.3231C>T (p.Val1077=) n.16261C>T c.16245C>T (p.Val5415=) c.16167C>T (p.Val5389=) c.13551C>T (p.Val4517=) c.16269C>T (p.Val5423=) c.16266C>T (p.Val5422=) c.16188C>T (p.Val5396=) c.16173C>T (p.Val5391=) c.16089C>T (p.Val5363=) c.9387C>T (p.Val3129=) c.9366C>T (p.Val3122=) n.16264C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823477G>A | CA3342095 | ADGRV1 | c.16249G>A (p.Val5417Ile) c.5203G>A (p.Val1735Ile) n.3516G>A c.265+147268G>A (n.265+147268G>A) n.128+1295G>A c.2659G>A (p.Val887Ile) c.3232G>A (p.Val1078Ile) n.16262G>A c.16246G>A (p.Val5416Ile) c.16168G>A (p.Val5390Ile) c.13552G>A (p.Val4518Ile) c.16270G>A (p.Val5424Ile) c.16267G>A (p.Val5423Ile) c.16189G>A (p.Val5397Ile) c.16174G>A (p.Val5392Ile) c.16090G>A (p.Val5364Ile) c.9388G>A (p.Val3130Ile) c.9367G>A (p.Val3123Ile) n.16265G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823477G>C | CA3342096 | ADGRV1 | c.16249G>C (p.Val5417Leu) c.5203G>C (p.Val1735Leu) n.3516G>C c.265+147268G>C (n.265+147268G>C) n.128+1295G>C c.2659G>C (p.Val887Leu) c.3232G>C (p.Val1078Leu) n.16262G>C c.16246G>C (p.Val5416Leu) c.16168G>C (p.Val5390Leu) c.13552G>C (p.Val4518Leu) c.16270G>C (p.Val5424Leu) c.16267G>C (p.Val5423Leu) c.16189G>C (p.Val5397Leu) c.16174G>C (p.Val5392Leu) c.16090G>C (p.Val5364Leu) c.9388G>C (p.Val3130Leu) c.9367G>C (p.Val3123Leu) n.16265G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823477G= | CA1562918261 | ADGRV1 | c.16249G= (p.Val5417=) c.5203G= (p.Val1735=) n.3516G= c.265+147268G= (n.265+147268G=) n.128+1295G= c.2659G= (p.Val887=) c.3232G= (p.Val1078=) n.16262G= c.16246G= (p.Val5416=) c.16168G= (p.Val5390=) c.13552G= (p.Val4518=) c.16270G= (p.Val5424=) c.16267G= (p.Val5423=) c.16189G= (p.Val5397=) c.16174G= (p.Val5392=) c.16090G= (p.Val5364=) c.9388G= (p.Val3130=) c.9367G= (p.Val3123=) n.16265G= | |
5 | g.90823477G>T | CA3342094 | ADGRV1 | c.16249G>T (p.Val5417Phe) c.5203G>T (p.Val1735Phe) n.3516G>T c.265+147268G>T (n.265+147268G>T) n.128+1295G>T c.2659G>T (p.Val887Phe) c.3232G>T (p.Val1078Phe) n.16262G>T c.16246G>T (p.Val5416Phe) c.16168G>T (p.Val5390Phe) c.13552G>T (p.Val4518Phe) c.16270G>T (p.Val5424Phe) c.16267G>T (p.Val5423Phe) c.16189G>T (p.Val5397Phe) c.16174G>T (p.Val5392Phe) c.16090G>T (p.Val5364Phe) c.9388G>T (p.Val3130Phe) c.9367G>T (p.Val3123Phe) n.16265G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823478T>A | CA360425544 | ADGRV1 | c.16250T>A (p.Val5417Asp) c.5204T>A (p.Val1735Asp) n.3517T>A c.265+147269T>A (n.265+147269T>A) n.128+1296T>A c.2660T>A (p.Val887Asp) c.3233T>A (p.Val1078Asp) n.16263T>A c.16247T>A (p.Val5416Asp) c.16169T>A (p.Val5390Asp) c.13553T>A (p.Val4518Asp) c.16271T>A (p.Val5424Asp) c.16268T>A (p.Val5423Asp) c.16190T>A (p.Val5397Asp) c.16175T>A (p.Val5392Asp) c.16091T>A (p.Val5364Asp) c.9389T>A (p.Val3130Asp) c.9368T>A (p.Val3123Asp) n.16266T>A | |
5 | g.90823478T>C | CA360425545 | ADGRV1 | c.16250T>C (p.Val5417Ala) c.5204T>C (p.Val1735Ala) n.3517T>C c.265+147269T>C (n.265+147269T>C) n.128+1296T>C c.2660T>C (p.Val887Ala) c.3233T>C (p.Val1078Ala) n.16263T>C c.16247T>C (p.Val5416Ala) c.16169T>C (p.Val5390Ala) c.13553T>C (p.Val4518Ala) c.16271T>C (p.Val5424Ala) c.16268T>C (p.Val5423Ala) c.16190T>C (p.Val5397Ala) c.16175T>C (p.Val5392Ala) c.16091T>C (p.Val5364Ala) c.9389T>C (p.Val3130Ala) c.9368T>C (p.Val3123Ala) n.16266T>C | |
5 | g.90823478T>G | CA360425546 | ADGRV1 | c.16250T>G (p.Val5417Gly) c.5204T>G (p.Val1735Gly) n.3517T>G c.265+147269T>G (n.265+147269T>G) n.128+1296T>G c.2660T>G (p.Val887Gly) c.3233T>G (p.Val1078Gly) n.16263T>G c.16247T>G (p.Val5416Gly) c.16169T>G (p.Val5390Gly) c.13553T>G (p.Val4518Gly) c.16271T>G (p.Val5424Gly) c.16268T>G (p.Val5423Gly) c.16190T>G (p.Val5397Gly) c.16175T>G (p.Val5392Gly) c.16091T>G (p.Val5364Gly) c.9389T>G (p.Val3130Gly) c.9368T>G (p.Val3123Gly) n.16266T>G | |
5 | g.90823479C>A | CA3342097 | ADGRV1 | c.16251C>A (p.Val5417=) c.5205C>A (p.Val1735=) n.3518C>A c.265+147270C>A (n.265+147270C>A) n.128+1297C>A c.2661C>A (p.Val887=) c.3234C>A (p.Val1078=) n.16264C>A c.16248C>A (p.Val5416=) c.16170C>A (p.Val5390=) c.13554C>A (p.Val4518=) c.16272C>A (p.Val5424=) c.16269C>A (p.Val5423=) c.16191C>A (p.Val5397=) c.16176C>A (p.Val5392=) c.16092C>A (p.Val5364=) c.9390C>A (p.Val3130=) c.9369C>A (p.Val3123=) n.16267C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823479C= | CA1562918262 | ADGRV1 | c.16251C= (p.Val5417=) c.5205C= (p.Val1735=) n.3518C= c.265+147270C= (n.265+147270C=) n.128+1297C= c.2661C= (p.Val887=) c.3234C= (p.Val1078=) n.16264C= c.16248C= (p.Val5416=) c.16170C= (p.Val5390=) c.13554C= (p.Val4518=) c.16272C= (p.Val5424=) c.16269C= (p.Val5423=) c.16191C= (p.Val5397=) c.16176C= (p.Val5392=) c.16092C= (p.Val5364=) c.9390C= (p.Val3130=) c.9369C= (p.Val3123=) n.16267C= | |
5 | g.90823479C>G | CA445436536 | ADGRV1 | c.16251C>G (p.Val5417=) c.5205C>G (p.Val1735=) n.3518C>G c.265+147270C>G (n.265+147270C>G) n.128+1297C>G c.2661C>G (p.Val887=) c.3234C>G (p.Val1078=) n.16264C>G c.16248C>G (p.Val5416=) c.16170C>G (p.Val5390=) c.13554C>G (p.Val4518=) c.16272C>G (p.Val5424=) c.16269C>G (p.Val5423=) c.16191C>G (p.Val5397=) c.16176C>G (p.Val5392=) c.16092C>G (p.Val5364=) c.9390C>G (p.Val3130=) c.9369C>G (p.Val3123=) n.16267C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823479C>T | CA3342098 | ADGRV1 | c.16251C>T (p.Val5417=) c.5205C>T (p.Val1735=) n.3518C>T c.265+147270C>T (n.265+147270C>T) n.128+1297C>T c.2661C>T (p.Val887=) c.3234C>T (p.Val1078=) n.16264C>T c.16248C>T (p.Val5416=) c.16170C>T (p.Val5390=) c.13554C>T (p.Val4518=) c.16272C>T (p.Val5424=) c.16269C>T (p.Val5423=) c.16191C>T (p.Val5397=) c.16176C>T (p.Val5392=) c.16092C>T (p.Val5364=) c.9390C>T (p.Val3130=) c.9369C>T (p.Val3123=) n.16267C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823480G>A | CA3342099 | ADGRV1 | c.16252G>A (p.Val5418Met) c.5206G>A (p.Val1736Met) n.3519G>A c.265+147271G>A (n.265+147271G>A) n.128+1298G>A c.2662G>A (p.Val888Met) c.3235G>A (p.Val1079Met) n.16265G>A c.16249G>A (p.Val5417Met) c.16171G>A (p.Val5391Met) c.13555G>A (p.Val4519Met) c.16273G>A (p.Val5425Met) c.16270G>A (p.Val5424Met) c.16192G>A (p.Val5398Met) c.16177G>A (p.Val5393Met) c.16093G>A (p.Val5365Met) c.9391G>A (p.Val3131Met) c.9370G>A (p.Val3124Met) n.16268G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.90823480G>C | CA360425548 | ADGRV1 | c.16252G>C (p.Val5418Leu) c.5206G>C (p.Val1736Leu) n.3519G>C c.265+147271G>C (n.265+147271G>C) n.128+1298G>C c.2662G>C (p.Val888Leu) c.3235G>C (p.Val1079Leu) n.16265G>C c.16249G>C (p.Val5417Leu) c.16171G>C (p.Val5391Leu) c.13555G>C (p.Val4519Leu) c.16273G>C (p.Val5425Leu) c.16270G>C (p.Val5424Leu) c.16192G>C (p.Val5398Leu) c.16177G>C (p.Val5393Leu) c.16093G>C (p.Val5365Leu) c.9391G>C (p.Val3131Leu) c.9370G>C (p.Val3124Leu) n.16268G>C | gnomAD v4 |
5 | g.90823480G= | CA1562918263 | ADGRV1 | c.16252G= (p.Val5418=) c.5206G= (p.Val1736=) n.3519G= c.265+147271G= (n.265+147271G=) n.128+1298G= c.2662G= (p.Val888=) c.3235G= (p.Val1079=) n.16265G= c.16249G= (p.Val5417=) c.16171G= (p.Val5391=) c.13555G= (p.Val4519=) c.16273G= (p.Val5425=) c.16270G= (p.Val5424=) c.16192G= (p.Val5398=) c.16177G= (p.Val5393=) c.16093G= (p.Val5365=) c.9391G= (p.Val3131=) c.9370G= (p.Val3124=) n.16268G= | |
5 | g.90823480G>T | CA360425547 | ADGRV1 | c.16252G>T (p.Val5418Leu) c.5206G>T (p.Val1736Leu) n.3519G>T c.265+147271G>T (n.265+147271G>T) n.128+1298G>T c.2662G>T (p.Val888Leu) c.3235G>T (p.Val1079Leu) n.16265G>T c.16249G>T (p.Val5417Leu) c.16171G>T (p.Val5391Leu) c.13555G>T (p.Val4519Leu) c.16273G>T (p.Val5425Leu) c.16270G>T (p.Val5424Leu) c.16192G>T (p.Val5398Leu) c.16177G>T (p.Val5393Leu) c.16093G>T (p.Val5365Leu) c.9391G>T (p.Val3131Leu) c.9370G>T (p.Val3124Leu) n.16268G>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823481T>A | CA360425549 | ADGRV1 | c.16253T>A (p.Val5418Glu) c.5207T>A (p.Val1736Glu) n.3520T>A c.265+147272T>A (n.265+147272T>A) n.128+1299T>A c.2663T>A (p.Val888Glu) c.3236T>A (p.Val1079Glu) n.16266T>A c.16250T>A (p.Val5417Glu) c.16172T>A (p.Val5391Glu) c.13556T>A (p.Val4519Glu) c.16274T>A (p.Val5425Glu) c.16271T>A (p.Val5424Glu) c.16193T>A (p.Val5398Glu) c.16178T>A (p.Val5393Glu) c.16094T>A (p.Val5365Glu) c.9392T>A (p.Val3131Glu) c.9371T>A (p.Val3124Glu) n.16269T>A | gnomAD v4 |
5 | g.90823481T>C | CA360425550 | ADGRV1 | c.16253T>C (p.Val5418Ala) c.5207T>C (p.Val1736Ala) n.3520T>C c.265+147272T>C (n.265+147272T>C) n.128+1299T>C c.2663T>C (p.Val888Ala) c.3236T>C (p.Val1079Ala) n.16266T>C c.16250T>C (p.Val5417Ala) c.16172T>C (p.Val5391Ala) c.13556T>C (p.Val4519Ala) c.16274T>C (p.Val5425Ala) c.16271T>C (p.Val5424Ala) c.16193T>C (p.Val5398Ala) c.16178T>C (p.Val5393Ala) c.16094T>C (p.Val5365Ala) c.9392T>C (p.Val3131Ala) c.9371T>C (p.Val3124Ala) n.16269T>C | |
5 | g.90823481T>G | CA360425551 | ADGRV1 | c.16253T>G (p.Val5418Gly) c.5207T>G (p.Val1736Gly) n.3520T>G c.265+147272T>G (n.265+147272T>G) n.128+1299T>G c.2663T>G (p.Val888Gly) c.3236T>G (p.Val1079Gly) n.16266T>G c.16250T>G (p.Val5417Gly) c.16172T>G (p.Val5391Gly) c.13556T>G (p.Val4519Gly) c.16274T>G (p.Val5425Gly) c.16271T>G (p.Val5424Gly) c.16193T>G (p.Val5398Gly) c.16178T>G (p.Val5393Gly) c.16094T>G (p.Val5365Gly) c.9392T>G (p.Val3131Gly) c.9371T>G (p.Val3124Gly) n.16269T>G | |
5 | g.90823482G>A | CA445436543 | ADGRV1 | c.16254G>A (p.Val5418=) c.5208G>A (p.Val1736=) n.3521G>A c.265+147273G>A (n.265+147273G>A) n.128+1300G>A c.2664G>A (p.Val888=) c.3237G>A (p.Val1079=) n.16267G>A c.16251G>A (p.Val5417=) c.16173G>A (p.Val5391=) c.13557G>A (p.Val4519=) c.16275G>A (p.Val5425=) c.16272G>A (p.Val5424=) c.16194G>A (p.Val5398=) c.16179G>A (p.Val5393=) c.16095G>A (p.Val5365=) c.9393G>A (p.Val3131=) c.9372G>A (p.Val3124=) n.16270G>A | gnomAD v4 |
5 | g.90823482G>C | CA445436545 | ADGRV1 | c.16254G>C (p.Val5418=) c.5208G>C (p.Val1736=) n.3521G>C c.265+147273G>C (n.265+147273G>C) n.128+1300G>C c.2664G>C (p.Val888=) c.3237G>C (p.Val1079=) n.16267G>C c.16251G>C (p.Val5417=) c.16173G>C (p.Val5391=) c.13557G>C (p.Val4519=) c.16275G>C (p.Val5425=) c.16272G>C (p.Val5424=) c.16194G>C (p.Val5398=) c.16179G>C (p.Val5393=) c.16095G>C (p.Val5365=) c.9393G>C (p.Val3131=) c.9372G>C (p.Val3124=) n.16270G>C | |
5 | g.90823482G>T | CA445436547 | ADGRV1 | c.16254G>T (p.Val5418=) c.5208G>T (p.Val1736=) n.3521G>T c.265+147273G>T (n.265+147273G>T) n.128+1300G>T c.2664G>T (p.Val888=) c.3237G>T (p.Val1079=) n.16267G>T c.16251G>T (p.Val5417=) c.16173G>T (p.Val5391=) c.13557G>T (p.Val4519=) c.16275G>T (p.Val5425=) c.16272G>T (p.Val5424=) c.16194G>T (p.Val5398=) c.16179G>T (p.Val5393=) c.16095G>T (p.Val5365=) c.9393G>T (p.Val3131=) c.9372G>T (p.Val3124=) n.16270G>T | |
5 | g.90823483C>A | CA360425552 | ADGRV1 | c.16255C>A (p.Leu5419Ile) c.5209C>A (p.Leu1737Ile) n.3522C>A c.265+147274C>A (n.265+147274C>A) n.128+1301C>A c.2665C>A (p.Leu889Ile) c.3238C>A (p.Leu1080Ile) n.16268C>A c.16252C>A (p.Leu5418Ile) c.16174C>A (p.Leu5392Ile) c.13558C>A (p.Leu4520Ile) c.16276C>A (p.Leu5426Ile) c.16273C>A (p.Leu5425Ile) c.16195C>A (p.Leu5399Ile) c.16180C>A (p.Leu5394Ile) c.16096C>A (p.Leu5366Ile) c.9394C>A (p.Leu3132Ile) c.9373C>A (p.Leu3125Ile) n.16271C>A | |
5 | g.90823483C>G | CA360425553 | ADGRV1 | c.16255C>G (p.Leu5419Val) c.5209C>G (p.Leu1737Val) n.3522C>G c.265+147274C>G (n.265+147274C>G) n.128+1301C>G c.2665C>G (p.Leu889Val) c.3238C>G (p.Leu1080Val) n.16268C>G c.16252C>G (p.Leu5418Val) c.16174C>G (p.Leu5392Val) c.13558C>G (p.Leu4520Val) c.16276C>G (p.Leu5426Val) c.16273C>G (p.Leu5425Val) c.16195C>G (p.Leu5399Val) c.16180C>G (p.Leu5394Val) c.16096C>G (p.Leu5366Val) c.9394C>G (p.Leu3132Val) c.9373C>G (p.Leu3125Val) n.16271C>G | |
5 | g.90823483C>T | CA360425554 | ADGRV1 | c.16255C>T (p.Leu5419Phe) c.5209C>T (p.Leu1737Phe) n.3522C>T c.265+147274C>T (n.265+147274C>T) n.128+1301C>T c.2665C>T (p.Leu889Phe) c.3238C>T (p.Leu1080Phe) n.16268C>T c.16252C>T (p.Leu5418Phe) c.16174C>T (p.Leu5392Phe) c.13558C>T (p.Leu4520Phe) c.16276C>T (p.Leu5426Phe) c.16273C>T (p.Leu5425Phe) c.16195C>T (p.Leu5399Phe) c.16180C>T (p.Leu5394Phe) c.16096C>T (p.Leu5366Phe) c.9394C>T (p.Leu3132Phe) c.9373C>T (p.Leu3125Phe) n.16271C>T | |
5 | g.90823484T>A | CA360425555 | ADGRV1 | c.16256T>A (p.Leu5419His) c.5210T>A (p.Leu1737His) n.3523T>A c.265+147275T>A (n.265+147275T>A) n.128+1302T>A c.2666T>A (p.Leu889His) c.3239T>A (p.Leu1080His) n.16269T>A c.16253T>A (p.Leu5418His) c.16175T>A (p.Leu5392His) c.13559T>A (p.Leu4520His) c.16277T>A (p.Leu5426His) c.16274T>A (p.Leu5425His) c.16196T>A (p.Leu5399His) c.16181T>A (p.Leu5394His) c.16097T>A (p.Leu5366His) c.9395T>A (p.Leu3132His) c.9374T>A (p.Leu3125His) n.16272T>A | |
5 | g.90823484T>C | CA360425556 | ADGRV1 | c.16256T>C (p.Leu5419Pro) c.5210T>C (p.Leu1737Pro) n.3523T>C c.265+147275T>C (n.265+147275T>C) n.128+1302T>C c.2666T>C (p.Leu889Pro) c.3239T>C (p.Leu1080Pro) n.16269T>C c.16253T>C (p.Leu5418Pro) c.16175T>C (p.Leu5392Pro) c.13559T>C (p.Leu4520Pro) c.16277T>C (p.Leu5426Pro) c.16274T>C (p.Leu5425Pro) c.16196T>C (p.Leu5399Pro) c.16181T>C (p.Leu5394Pro) c.16097T>C (p.Leu5366Pro) c.9395T>C (p.Leu3132Pro) c.9374T>C (p.Leu3125Pro) n.16272T>C | COSMIC |
5 | g.90823484T>G | CA360425557 | ADGRV1 | c.16256T>G (p.Leu5419Arg) c.5210T>G (p.Leu1737Arg) n.3523T>G c.265+147275T>G (n.265+147275T>G) n.128+1302T>G c.2666T>G (p.Leu889Arg) c.3239T>G (p.Leu1080Arg) n.16269T>G c.16253T>G (p.Leu5418Arg) c.16175T>G (p.Leu5392Arg) c.13559T>G (p.Leu4520Arg) c.16277T>G (p.Leu5426Arg) c.16274T>G (p.Leu5425Arg) c.16196T>G (p.Leu5399Arg) c.16181T>G (p.Leu5394Arg) c.16097T>G (p.Leu5366Arg) c.9395T>G (p.Leu3132Arg) c.9374T>G (p.Leu3125Arg) n.16272T>G | |
5 | g.90823485C>A | CA445436553 | ADGRV1 | c.16257C>A (p.Leu5419=) c.5211C>A (p.Leu1737=) n.3524C>A c.265+147276C>A (n.265+147276C>A) n.128+1303C>A c.2667C>A (p.Leu889=) c.3240C>A (p.Leu1080=) n.16270C>A c.16254C>A (p.Leu5418=) c.16176C>A (p.Leu5392=) c.13560C>A (p.Leu4520=) c.16278C>A (p.Leu5426=) c.16275C>A (p.Leu5425=) c.16197C>A (p.Leu5399=) c.16182C>A (p.Leu5394=) c.16098C>A (p.Leu5366=) c.9396C>A (p.Leu3132=) c.9375C>A (p.Leu3125=) n.16273C>A | |
5 | g.90823485C= | CA1562918264 | ADGRV1 | c.16257C= (p.Leu5419=) c.5211C= (p.Leu1737=) n.3524C= c.265+147276C= (n.265+147276C=) n.128+1303C= c.2667C= (p.Leu889=) c.3240C= (p.Leu1080=) n.16270C= c.16254C= (p.Leu5418=) c.16176C= (p.Leu5392=) c.13560C= (p.Leu4520=) c.16278C= (p.Leu5426=) c.16275C= (p.Leu5425=) c.16197C= (p.Leu5399=) c.16182C= (p.Leu5394=) c.16098C= (p.Leu5366=) c.9396C= (p.Leu3132=) c.9375C= (p.Leu3125=) n.16273C= | |
5 | g.90823485C>G | CA445436555 | ADGRV1 | c.16257C>G (p.Leu5419=) c.5211C>G (p.Leu1737=) n.3524C>G c.265+147276C>G (n.265+147276C>G) n.128+1303C>G c.2667C>G (p.Leu889=) c.3240C>G (p.Leu1080=) n.16270C>G c.16254C>G (p.Leu5418=) c.16176C>G (p.Leu5392=) c.13560C>G (p.Leu4520=) c.16278C>G (p.Leu5426=) c.16275C>G (p.Leu5425=) c.16197C>G (p.Leu5399=) c.16182C>G (p.Leu5394=) c.16098C>G (p.Leu5366=) c.9396C>G (p.Leu3132=) c.9375C>G (p.Leu3125=) n.16273C>G | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823485C>T | CA445436557 | ADGRV1 | c.16257C>T (p.Leu5419=) c.5211C>T (p.Leu1737=) n.3524C>T c.265+147276C>T (n.265+147276C>T) n.128+1303C>T c.2667C>T (p.Leu889=) c.3240C>T (p.Leu1080=) n.16270C>T c.16254C>T (p.Leu5418=) c.16176C>T (p.Leu5392=) c.13560C>T (p.Leu4520=) c.16278C>T (p.Leu5426=) c.16275C>T (p.Leu5425=) c.16197C>T (p.Leu5399=) c.16182C>T (p.Leu5394=) c.16098C>T (p.Leu5366=) c.9396C>T (p.Leu3132=) c.9375C>T (p.Leu3125=) n.16273C>T | |
5 | g.90823486C>A | CA10576675 | ADGRV1 | c.16258C>A (p.Gln5420Lys) c.5212C>A (p.Gln1738Lys) n.3525C>A c.265+147277C>A (n.265+147277C>A) n.128+1304C>A c.2668C>A (p.Gln890Lys) c.3241C>A (p.Gln1081Lys) n.16271C>A c.16255C>A (p.Gln5419Lys) c.16177C>A (p.Gln5393Lys) c.13561C>A (p.Gln4521Lys) c.16279C>A (p.Gln5427Lys) c.16276C>A (p.Gln5426Lys) c.16198C>A (p.Gln5400Lys) c.16183C>A (p.Gln5395Lys) c.16099C>A (p.Gln5367Lys) c.9397C>A (p.Gln3133Lys) c.9376C>A (p.Gln3126Lys) n.16274C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823486C= | CA1562918265 | ADGRV1 | c.16258C= (p.Gln5420=) c.5212C= (p.Gln1738=) n.3525C= c.265+147277C= (n.265+147277C=) n.128+1304C= c.2668C= (p.Gln890=) c.3241C= (p.Gln1081=) n.16271C= c.16255C= (p.Gln5419=) c.16177C= (p.Gln5393=) c.13561C= (p.Gln4521=) c.16279C= (p.Gln5427=) c.16276C= (p.Gln5426=) c.16198C= (p.Gln5400=) c.16183C= (p.Gln5395=) c.16099C= (p.Gln5367=) c.9397C= (p.Gln3133=) c.9376C= (p.Gln3126=) n.16274C= | |
5 | g.90823486C>G | CA360425558 | ADGRV1 | c.16258C>G (p.Gln5420Glu) c.5212C>G (p.Gln1738Glu) n.3525C>G c.265+147277C>G (n.265+147277C>G) n.128+1304C>G c.2668C>G (p.Gln890Glu) c.3241C>G (p.Gln1081Glu) n.16271C>G c.16255C>G (p.Gln5419Glu) c.16177C>G (p.Gln5393Glu) c.13561C>G (p.Gln4521Glu) c.16279C>G (p.Gln5427Glu) c.16276C>G (p.Gln5426Glu) c.16198C>G (p.Gln5400Glu) c.16183C>G (p.Gln5395Glu) c.16099C>G (p.Gln5367Glu) c.9397C>G (p.Gln3133Glu) c.9376C>G (p.Gln3126Glu) n.16274C>G | |
5 | g.90823486C>T | CA360425559 | ADGRV1 | c.16258C>T (p.Gln5420Ter) c.5212C>T (p.Gln1738Ter) n.3525C>T c.265+147277C>T (n.265+147277C>T) n.128+1304C>T c.2668C>T (p.Gln890Ter) c.3241C>T (p.Gln1081Ter) n.16271C>T c.16255C>T (p.Gln5419Ter) c.16177C>T (p.Gln5393Ter) c.13561C>T (p.Gln4521Ter) c.16279C>T (p.Gln5427Ter) c.16276C>T (p.Gln5426Ter) c.16198C>T (p.Gln5400Ter) c.16183C>T (p.Gln5395Ter) c.16099C>T (p.Gln5367Ter) c.9397C>T (p.Gln3133Ter) c.9376C>T (p.Gln3126Ter) n.16274C>T | |
5 | g.90823487A= | CA1562918266 | ADGRV1 | c.16259A= (p.Gln5420=) c.5213A= (p.Gln1738=) n.3526A= c.265+147278A= (n.265+147278A=) n.128+1305A= c.2669A= (p.Gln890=) c.3242A= (p.Gln1081=) n.16272A= c.16256A= (p.Gln5419=) c.16178A= (p.Gln5393=) c.13562A= (p.Gln4521=) c.16280A= (p.Gln5427=) c.16277A= (p.Gln5426=) c.16199A= (p.Gln5400=) c.16184A= (p.Gln5395=) c.16100A= (p.Gln5367=) c.9398A= (p.Gln3133=) c.9377A= (p.Gln3126=) n.16275A= | |
5 | g.90823487A>C | CA360425561 | ADGRV1 | c.16259A>C (p.Gln5420Pro) c.5213A>C (p.Gln1738Pro) n.3526A>C c.265+147278A>C (n.265+147278A>C) n.128+1305A>C c.2669A>C (p.Gln890Pro) c.3242A>C (p.Gln1081Pro) n.16272A>C c.16256A>C (p.Gln5419Pro) c.16178A>C (p.Gln5393Pro) c.13562A>C (p.Gln4521Pro) c.16280A>C (p.Gln5427Pro) c.16277A>C (p.Gln5426Pro) c.16199A>C (p.Gln5400Pro) c.16184A>C (p.Gln5395Pro) c.16100A>C (p.Gln5367Pro) c.9398A>C (p.Gln3133Pro) c.9377A>C (p.Gln3126Pro) n.16275A>C | |
5 | g.90823487A>G | CA360425562 | ADGRV1 | c.16259A>G (p.Gln5420Arg) c.5213A>G (p.Gln1738Arg) n.3526A>G c.265+147278A>G (n.265+147278A>G) n.128+1305A>G c.2669A>G (p.Gln890Arg) c.3242A>G (p.Gln1081Arg) n.16272A>G c.16256A>G (p.Gln5419Arg) c.16178A>G (p.Gln5393Arg) c.13562A>G (p.Gln4521Arg) c.16280A>G (p.Gln5427Arg) c.16277A>G (p.Gln5426Arg) c.16199A>G (p.Gln5400Arg) c.16184A>G (p.Gln5395Arg) c.16100A>G (p.Gln5367Arg) c.9398A>G (p.Gln3133Arg) c.9377A>G (p.Gln3126Arg) n.16275A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823487A>T | CA360425560 | ADGRV1 | c.16259A>T (p.Gln5420Leu) c.5213A>T (p.Gln1738Leu) n.3526A>T c.265+147278A>T (n.265+147278A>T) n.128+1305A>T c.2669A>T (p.Gln890Leu) c.3242A>T (p.Gln1081Leu) n.16272A>T c.16256A>T (p.Gln5419Leu) c.16178A>T (p.Gln5393Leu) c.13562A>T (p.Gln4521Leu) c.16280A>T (p.Gln5427Leu) c.16277A>T (p.Gln5426Leu) c.16199A>T (p.Gln5400Leu) c.16184A>T (p.Gln5395Leu) c.16100A>T (p.Gln5367Leu) c.9398A>T (p.Gln3133Leu) c.9377A>T (p.Gln3126Leu) n.16275A>T | |
5 | g.90823489_90823491del | CA2674577100 | ADGRV1 | c.16261_16263del (p.Lys5421del) c.5215_5217del (p.Lys1739del) n.3528_3530del c.265+147280_265+147282del (n.265+147280_265+147282del) n.128+1307_128+1309del c.2671_2673del (p.Lys891del) c.3244_3246del (p.Lys1082del) n.16274_16276del c.16258_16260del (p.Lys5420del) c.16180_16182del (p.Lys5394del) c.13564_13566del (p.Lys4522del) c.16282_16284del (p.Lys5428del) c.16279_16281del (p.Lys5427del) c.16201_16203del (p.Lys5401del) c.16186_16188del (p.Lys5396del) c.16102_16104del (p.Lys5368del) c.9400_9402del (p.Lys3134del) c.9379_9381del (p.Lys3127del) n.16277_16279del | gnomAD v4 |
5 | g.90823488G>A | CA445436559 | ADGRV1 | c.16260G>A (p.Gln5420=) c.5214G>A (p.Gln1738=) n.3527G>A c.265+147279G>A (n.265+147279G>A) n.128+1306G>A c.2670G>A (p.Gln890=) c.3243G>A (p.Gln1081=) n.16273G>A c.16257G>A (p.Gln5419=) c.16179G>A (p.Gln5393=) c.13563G>A (p.Gln4521=) c.16281G>A (p.Gln5427=) c.16278G>A (p.Gln5426=) c.16200G>A (p.Gln5400=) c.16185G>A (p.Gln5395=) c.16101G>A (p.Gln5367=) c.9399G>A (p.Gln3133=) c.9378G>A (p.Gln3126=) n.16276G>A | dbSNP gnomAD v2 |
5 | g.90823488G>C | CA360425563 | ADGRV1 | c.16260G>C (p.Gln5420His) c.5214G>C (p.Gln1738His) n.3527G>C c.265+147279G>C (n.265+147279G>C) n.128+1306G>C c.2670G>C (p.Gln890His) c.3243G>C (p.Gln1081His) n.16273G>C c.16257G>C (p.Gln5419His) c.16179G>C (p.Gln5393His) c.13563G>C (p.Gln4521His) c.16281G>C (p.Gln5427His) c.16278G>C (p.Gln5426His) c.16200G>C (p.Gln5400His) c.16185G>C (p.Gln5395His) c.16101G>C (p.Gln5367His) c.9399G>C (p.Gln3133His) c.9378G>C (p.Gln3126His) n.16276G>C | |
5 | g.90823488G= | CA1562918267 | ADGRV1 | c.16260G= (p.Gln5420=) c.5214G= (p.Gln1738=) n.3527G= c.265+147279G= (n.265+147279G=) n.128+1306G= c.2670G= (p.Gln890=) c.3243G= (p.Gln1081=) n.16273G= c.16257G= (p.Gln5419=) c.16179G= (p.Gln5393=) c.13563G= (p.Gln4521=) c.16281G= (p.Gln5427=) c.16278G= (p.Gln5426=) c.16200G= (p.Gln5400=) c.16185G= (p.Gln5395=) c.16101G= (p.Gln5367=) c.9399G= (p.Gln3133=) c.9378G= (p.Gln3126=) n.16276G= | |
5 | g.90823488G>T | CA360425564 | ADGRV1 | c.16260G>T (p.Gln5420His) c.5214G>T (p.Gln1738His) n.3527G>T c.265+147279G>T (n.265+147279G>T) n.128+1306G>T c.2670G>T (p.Gln890His) c.3243G>T (p.Gln1081His) n.16273G>T c.16257G>T (p.Gln5419His) c.16179G>T (p.Gln5393His) c.13563G>T (p.Gln4521His) c.16281G>T (p.Gln5427His) c.16278G>T (p.Gln5426His) c.16200G>T (p.Gln5400His) c.16185G>T (p.Gln5395His) c.16101G>T (p.Gln5367His) c.9399G>T (p.Gln3133His) c.9378G>T (p.Gln3126His) n.16276G>T | |
5 | g.90823489A>C | CA360425565 | ADGRV1 | c.16261A>C (p.Lys5421Gln) c.5215A>C (p.Lys1739Gln) n.3528A>C c.265+147280A>C (n.265+147280A>C) n.128+1307A>C c.2671A>C (p.Lys891Gln) c.3244A>C (p.Lys1082Gln) n.16274A>C c.16258A>C (p.Lys5420Gln) c.16180A>C (p.Lys5394Gln) c.13564A>C (p.Lys4522Gln) c.16282A>C (p.Lys5428Gln) c.16279A>C (p.Lys5427Gln) c.16201A>C (p.Lys5401Gln) c.16186A>C (p.Lys5396Gln) c.16102A>C (p.Lys5368Gln) c.9400A>C (p.Lys3134Gln) c.9379A>C (p.Lys3127Gln) n.16277A>C | gnomAD v4 |
5 | g.90823489A>G | CA360425566 | ADGRV1 | c.16261A>G (p.Lys5421Glu) c.5215A>G (p.Lys1739Glu) n.3528A>G c.265+147280A>G (n.265+147280A>G) n.128+1307A>G c.2671A>G (p.Lys891Glu) c.3244A>G (p.Lys1082Glu) n.16274A>G c.16258A>G (p.Lys5420Glu) c.16180A>G (p.Lys5394Glu) c.13564A>G (p.Lys4522Glu) c.16282A>G (p.Lys5428Glu) c.16279A>G (p.Lys5427Glu) c.16201A>G (p.Lys5401Glu) c.16186A>G (p.Lys5396Glu) c.16102A>G (p.Lys5368Glu) c.9400A>G (p.Lys3134Glu) c.9379A>G (p.Lys3127Glu) n.16277A>G | |
5 | g.90823489A>T | CA360425567 | ADGRV1 | c.16261A>T (p.Lys5421Ter) c.5215A>T (p.Lys1739Ter) n.3528A>T c.265+147280A>T (n.265+147280A>T) n.128+1307A>T c.2671A>T (p.Lys891Ter) c.3244A>T (p.Lys1082Ter) n.16274A>T c.16258A>T (p.Lys5420Ter) c.16180A>T (p.Lys5394Ter) c.13564A>T (p.Lys4522Ter) c.16282A>T (p.Lys5428Ter) c.16279A>T (p.Lys5427Ter) c.16201A>T (p.Lys5401Ter) c.16186A>T (p.Lys5396Ter) c.16102A>T (p.Lys5368Ter) c.9400A>T (p.Lys3134Ter) c.9379A>T (p.Lys3127Ter) n.16277A>T | |
5 | g.90823490A= | CA1562918268 | ADGRV1 | c.16262A= (p.Lys5421=) c.5216A= (p.Lys1739=) n.3529A= c.265+147281A= (n.265+147281A=) n.128+1308A= c.2672A= (p.Lys891=) c.3245A= (p.Lys1082=) n.16275A= c.16259A= (p.Lys5420=) c.16181A= (p.Lys5394=) c.13565A= (p.Lys4522=) c.16283A= (p.Lys5428=) c.16280A= (p.Lys5427=) c.16202A= (p.Lys5401=) c.16187A= (p.Lys5396=) c.16103A= (p.Lys5368=) c.9401A= (p.Lys3134=) c.9380A= (p.Lys3127=) n.16278A= | |
5 | g.90823490A>C | CA360425569 | ADGRV1 | c.16262A>C (p.Lys5421Thr) c.5216A>C (p.Lys1739Thr) n.3529A>C c.265+147281A>C (n.265+147281A>C) n.128+1308A>C c.2672A>C (p.Lys891Thr) c.3245A>C (p.Lys1082Thr) n.16275A>C c.16259A>C (p.Lys5420Thr) c.16181A>C (p.Lys5394Thr) c.13565A>C (p.Lys4522Thr) c.16283A>C (p.Lys5428Thr) c.16280A>C (p.Lys5427Thr) c.16202A>C (p.Lys5401Thr) c.16187A>C (p.Lys5396Thr) c.16103A>C (p.Lys5368Thr) c.9401A>C (p.Lys3134Thr) c.9380A>C (p.Lys3127Thr) n.16278A>C | gnomAD v4 |
5 | g.90823490A>G | CA360425568 | ADGRV1 | c.16262A>G (p.Lys5421Arg) c.5216A>G (p.Lys1739Arg) n.3529A>G c.265+147281A>G (n.265+147281A>G) n.128+1308A>G c.2672A>G (p.Lys891Arg) c.3245A>G (p.Lys1082Arg) n.16275A>G c.16259A>G (p.Lys5420Arg) c.16181A>G (p.Lys5394Arg) c.13565A>G (p.Lys4522Arg) c.16283A>G (p.Lys5428Arg) c.16280A>G (p.Lys5427Arg) c.16202A>G (p.Lys5401Arg) c.16187A>G (p.Lys5396Arg) c.16103A>G (p.Lys5368Arg) c.9401A>G (p.Lys3134Arg) c.9380A>G (p.Lys3127Arg) n.16278A>G | |
5 | g.90823490A>T | CA3342100 | ADGRV1 | c.16262A>T (p.Lys5421Met) c.5216A>T (p.Lys1739Met) n.3529A>T c.265+147281A>T (n.265+147281A>T) n.128+1308A>T c.2672A>T (p.Lys891Met) c.3245A>T (p.Lys1082Met) n.16275A>T c.16259A>T (p.Lys5420Met) c.16181A>T (p.Lys5394Met) c.13565A>T (p.Lys4522Met) c.16283A>T (p.Lys5428Met) c.16280A>T (p.Lys5427Met) c.16202A>T (p.Lys5401Met) c.16187A>T (p.Lys5396Met) c.16103A>T (p.Lys5368Met) c.9401A>T (p.Lys3134Met) c.9380A>T (p.Lys3127Met) n.16278A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823491G>A | CA3342101 | ADGRV1 | c.16263G>A (p.Lys5421=) c.5217G>A (p.Lys1739=) n.3530G>A c.265+147282G>A (n.265+147282G>A) n.128+1309G>A c.2673G>A (p.Lys891=) c.3246G>A (p.Lys1082=) n.16276G>A c.16260G>A (p.Lys5420=) c.16182G>A (p.Lys5394=) c.13566G>A (p.Lys4522=) c.16284G>A (p.Lys5428=) c.16281G>A (p.Lys5427=) c.16203G>A (p.Lys5401=) c.16188G>A (p.Lys5396=) c.16104G>A (p.Lys5368=) c.9402G>A (p.Lys3134=) c.9381G>A (p.Lys3127=) n.16279G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823491G>C | CA360425570 | ADGRV1 | c.16263G>C (p.Lys5421Asn) c.5217G>C (p.Lys1739Asn) n.3530G>C c.265+147282G>C (n.265+147282G>C) n.128+1309G>C c.2673G>C (p.Lys891Asn) c.3246G>C (p.Lys1082Asn) n.16276G>C c.16260G>C (p.Lys5420Asn) c.16182G>C (p.Lys5394Asn) c.13566G>C (p.Lys4522Asn) c.16284G>C (p.Lys5428Asn) c.16281G>C (p.Lys5427Asn) c.16203G>C (p.Lys5401Asn) c.16188G>C (p.Lys5396Asn) c.16104G>C (p.Lys5368Asn) c.9402G>C (p.Lys3134Asn) c.9381G>C (p.Lys3127Asn) n.16279G>C | |
5 | g.90823491G= | CA1562918269 | ADGRV1 | c.16263G= (p.Lys5421=) c.5217G= (p.Lys1739=) n.3530G= c.265+147282G= (n.265+147282G=) n.128+1309G= c.2673G= (p.Lys891=) c.3246G= (p.Lys1082=) n.16276G= c.16260G= (p.Lys5420=) c.16182G= (p.Lys5394=) c.13566G= (p.Lys4522=) c.16284G= (p.Lys5428=) c.16281G= (p.Lys5427=) c.16203G= (p.Lys5401=) c.16188G= (p.Lys5396=) c.16104G= (p.Lys5368=) c.9402G= (p.Lys3134=) c.9381G= (p.Lys3127=) n.16279G= | |
5 | g.90823491G>T | CA360425571 | ADGRV1 | c.16263G>T (p.Lys5421Asn) c.5217G>T (p.Lys1739Asn) n.3530G>T c.265+147282G>T (n.265+147282G>T) n.128+1309G>T c.2673G>T (p.Lys891Asn) c.3246G>T (p.Lys1082Asn) n.16276G>T c.16260G>T (p.Lys5420Asn) c.16182G>T (p.Lys5394Asn) c.13566G>T (p.Lys4522Asn) c.16284G>T (p.Lys5428Asn) c.16281G>T (p.Lys5427Asn) c.16203G>T (p.Lys5401Asn) c.16188G>T (p.Lys5396Asn) c.16104G>T (p.Lys5368Asn) c.9402G>T (p.Lys3134Asn) c.9381G>T (p.Lys3127Asn) n.16279G>T | gnomAD v4 |
5 | g.90823492G>A | CA360425572 | ADGRV1 | c.16264G>A (p.Asp5422Asn) c.5218G>A (p.Asp1740Asn) n.3531G>A c.265+147283G>A (n.265+147283G>A) n.128+1310G>A c.2674G>A (p.Asp892Asn) c.3247G>A (p.Asp1083Asn) n.16277G>A c.16261G>A (p.Asp5421Asn) c.16183G>A (p.Asp5395Asn) c.13567G>A (p.Asp4523Asn) c.16285G>A (p.Asp5429Asn) c.16282G>A (p.Asp5428Asn) c.16204G>A (p.Asp5402Asn) c.16189G>A (p.Asp5397Asn) c.16105G>A (p.Asp5369Asn) c.9403G>A (p.Asp3135Asn) c.9382G>A (p.Asp3128Asn) n.16280G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.90823492G>C | CA360425573 | ADGRV1 | c.16264G>C (p.Asp5422His) c.5218G>C (p.Asp1740His) n.3531G>C c.265+147283G>C (n.265+147283G>C) n.128+1310G>C c.2674G>C (p.Asp892His) c.3247G>C (p.Asp1083His) n.16277G>C c.16261G>C (p.Asp5421His) c.16183G>C (p.Asp5395His) c.13567G>C (p.Asp4523His) c.16285G>C (p.Asp5429His) c.16282G>C (p.Asp5428His) c.16204G>C (p.Asp5402His) c.16189G>C (p.Asp5397His) c.16105G>C (p.Asp5369His) c.9403G>C (p.Asp3135His) c.9382G>C (p.Asp3128His) n.16280G>C | |
5 | g.90823492G= | CA1562918270 | ADGRV1 | c.16264G= (p.Asp5422=) c.5218G= (p.Asp1740=) n.3531G= c.265+147283G= (n.265+147283G=) n.128+1310G= c.2674G= (p.Asp892=) c.3247G= (p.Asp1083=) n.16277G= c.16261G= (p.Asp5421=) c.16183G= (p.Asp5395=) c.13567G= (p.Asp4523=) c.16285G= (p.Asp5429=) c.16282G= (p.Asp5428=) c.16204G= (p.Asp5402=) c.16189G= (p.Asp5397=) c.16105G= (p.Asp5369=) c.9403G= (p.Asp3135=) c.9382G= (p.Asp3128=) n.16280G= | |
5 | g.90823492G>T | CA122804093 | ADGRV1 | c.16264G>T (p.Asp5422Tyr) c.5218G>T (p.Asp1740Tyr) n.3531G>T c.265+147283G>T (n.265+147283G>T) n.128+1310G>T c.2674G>T (p.Asp892Tyr) c.3247G>T (p.Asp1083Tyr) n.16277G>T c.16261G>T (p.Asp5421Tyr) c.16183G>T (p.Asp5395Tyr) c.13567G>T (p.Asp4523Tyr) c.16285G>T (p.Asp5429Tyr) c.16282G>T (p.Asp5428Tyr) c.16204G>T (p.Asp5402Tyr) c.16189G>T (p.Asp5397Tyr) c.16105G>T (p.Asp5369Tyr) c.9403G>T (p.Asp3135Tyr) c.9382G>T (p.Asp3128Tyr) n.16280G>T | ClinVar dbSNP |
5 | g.90823493A>C | CA360425574 | ADGRV1 | c.16265A>C (p.Asp5422Ala) c.5219A>C (p.Asp1740Ala) n.3532A>C c.265+147284A>C (n.265+147284A>C) n.128+1311A>C c.2675A>C (p.Asp892Ala) c.3248A>C (p.Asp1083Ala) n.16278A>C c.16262A>C (p.Asp5421Ala) c.16184A>C (p.Asp5395Ala) c.13568A>C (p.Asp4523Ala) c.16286A>C (p.Asp5429Ala) c.16283A>C (p.Asp5428Ala) c.16205A>C (p.Asp5402Ala) c.16190A>C (p.Asp5397Ala) c.16106A>C (p.Asp5369Ala) c.9404A>C (p.Asp3135Ala) c.9383A>C (p.Asp3128Ala) n.16281A>C | |
5 | g.90823493A>G | CA360425576 | ADGRV1 | c.16265A>G (p.Asp5422Gly) c.5219A>G (p.Asp1740Gly) n.3532A>G c.265+147284A>G (n.265+147284A>G) n.128+1311A>G c.2675A>G (p.Asp892Gly) c.3248A>G (p.Asp1083Gly) n.16278A>G c.16262A>G (p.Asp5421Gly) c.16184A>G (p.Asp5395Gly) c.13568A>G (p.Asp4523Gly) c.16286A>G (p.Asp5429Gly) c.16283A>G (p.Asp5428Gly) c.16205A>G (p.Asp5402Gly) c.16190A>G (p.Asp5397Gly) c.16106A>G (p.Asp5369Gly) c.9404A>G (p.Asp3135Gly) c.9383A>G (p.Asp3128Gly) n.16281A>G | |
5 | g.90823493A>T | CA360425575 | ADGRV1 | c.16265A>T (p.Asp5422Val) c.5219A>T (p.Asp1740Val) n.3532A>T c.265+147284A>T (n.265+147284A>T) n.128+1311A>T c.2675A>T (p.Asp892Val) c.3248A>T (p.Asp1083Val) n.16278A>T c.16262A>T (p.Asp5421Val) c.16184A>T (p.Asp5395Val) c.13568A>T (p.Asp4523Val) c.16286A>T (p.Asp5429Val) c.16283A>T (p.Asp5428Val) c.16205A>T (p.Asp5402Val) c.16190A>T (p.Asp5397Val) c.16106A>T (p.Asp5369Val) c.9404A>T (p.Asp3135Val) c.9383A>T (p.Asp3128Val) n.16281A>T | gnomAD v4 |
5 | g.90823494T>A | CA360425577 | ADGRV1 | c.16266T>A (p.Asp5422Glu) c.5220T>A (p.Asp1740Glu) n.3533T>A c.265+147285T>A (n.265+147285T>A) n.128+1312T>A c.2676T>A (p.Asp892Glu) c.3249T>A (p.Asp1083Glu) n.16279T>A c.16263T>A (p.Asp5421Glu) c.16185T>A (p.Asp5395Glu) c.13569T>A (p.Asp4523Glu) c.16287T>A (p.Asp5429Glu) c.16284T>A (p.Asp5428Glu) c.16206T>A (p.Asp5402Glu) c.16191T>A (p.Asp5397Glu) c.16107T>A (p.Asp5369Glu) c.9405T>A (p.Asp3135Glu) c.9384T>A (p.Asp3128Glu) n.16282T>A | |
5 | g.90823494T>C | CA3342102 | ADGRV1 | c.16266T>C (p.Asp5422=) c.5220T>C (p.Asp1740=) n.3533T>C c.265+147285T>C (n.265+147285T>C) n.128+1312T>C c.2676T>C (p.Asp892=) c.3249T>C (p.Asp1083=) n.16279T>C c.16263T>C (p.Asp5421=) c.16185T>C (p.Asp5395=) c.13569T>C (p.Asp4523=) c.16287T>C (p.Asp5429=) c.16284T>C (p.Asp5428=) c.16206T>C (p.Asp5402=) c.16191T>C (p.Asp5397=) c.16107T>C (p.Asp5369=) c.9405T>C (p.Asp3135=) c.9384T>C (p.Asp3128=) n.16282T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823494T>G | CA360425578 | ADGRV1 | c.16266T>G (p.Asp5422Glu) c.5220T>G (p.Asp1740Glu) n.3533T>G c.265+147285T>G (n.265+147285T>G) n.128+1312T>G c.2676T>G (p.Asp892Glu) c.3249T>G (p.Asp1083Glu) n.16279T>G c.16263T>G (p.Asp5421Glu) c.16185T>G (p.Asp5395Glu) c.13569T>G (p.Asp4523Glu) c.16287T>G (p.Asp5429Glu) c.16284T>G (p.Asp5428Glu) c.16206T>G (p.Asp5402Glu) c.16191T>G (p.Asp5397Glu) c.16107T>G (p.Asp5369Glu) c.9405T>G (p.Asp3135Glu) c.9384T>G (p.Asp3128Glu) n.16282T>G | |
5 | g.90823494T= | CA1562918271 | ADGRV1 | c.16266T= (p.Asp5422=) c.5220T= (p.Asp1740=) n.3533T= c.265+147285T= (n.265+147285T=) n.128+1312T= c.2676T= (p.Asp892=) c.3249T= (p.Asp1083=) n.16279T= c.16263T= (p.Asp5421=) c.16185T= (p.Asp5395=) c.13569T= (p.Asp4523=) c.16287T= (p.Asp5429=) c.16284T= (p.Asp5428=) c.16206T= (p.Asp5402=) c.16191T= (p.Asp5397=) c.16107T= (p.Asp5369=) c.9405T= (p.Asp3135=) c.9384T= (p.Asp3128=) n.16282T= | |
5 | g.90823495G>A | CA360425579 | ADGRV1 | c.16267G>A (p.Gly5423Arg) c.5221G>A (p.Gly1741Arg) n.3534G>A c.265+147286G>A (n.265+147286G>A) n.128+1313G>A c.2677G>A (p.Gly893Arg) c.3250G>A (p.Gly1084Arg) n.16280G>A c.16264G>A (p.Gly5422Arg) c.16186G>A (p.Gly5396Arg) c.13570G>A (p.Gly4524Arg) c.16288G>A (p.Gly5430Arg) c.16285G>A (p.Gly5429Arg) c.16207G>A (p.Gly5403Arg) c.16192G>A (p.Gly5398Arg) c.16108G>A (p.Gly5370Arg) c.9406G>A (p.Gly3136Arg) c.9385G>A (p.Gly3129Arg) n.16283G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823495G>C | CA360425580 | ADGRV1 | c.16267G>C (p.Gly5423Arg) c.5221G>C (p.Gly1741Arg) n.3534G>C c.265+147286G>C (n.265+147286G>C) n.128+1313G>C c.2677G>C (p.Gly893Arg) c.3250G>C (p.Gly1084Arg) n.16280G>C c.16264G>C (p.Gly5422Arg) c.16186G>C (p.Gly5396Arg) c.13570G>C (p.Gly4524Arg) c.16288G>C (p.Gly5430Arg) c.16285G>C (p.Gly5429Arg) c.16207G>C (p.Gly5403Arg) c.16192G>C (p.Gly5398Arg) c.16108G>C (p.Gly5370Arg) c.9406G>C (p.Gly3136Arg) c.9385G>C (p.Gly3129Arg) n.16283G>C | |
5 | g.90823495G= | CA1562918272 | ADGRV1 | c.16267G= (p.Gly5423=) c.5221G= (p.Gly1741=) n.3534G= c.265+147286G= (n.265+147286G=) n.128+1313G= c.2677G= (p.Gly893=) c.3250G= (p.Gly1084=) n.16280G= c.16264G= (p.Gly5422=) c.16186G= (p.Gly5396=) c.13570G= (p.Gly4524=) c.16288G= (p.Gly5430=) c.16285G= (p.Gly5429=) c.16207G= (p.Gly5403=) c.16192G= (p.Gly5398=) c.16108G= (p.Gly5370=) c.9406G= (p.Gly3136=) c.9385G= (p.Gly3129=) n.16283G= | |
5 | g.90823495G>T | CA360425581 | ADGRV1 | c.16267G>T (p.Gly5423Trp) c.5221G>T (p.Gly1741Trp) n.3534G>T c.265+147286G>T (n.265+147286G>T) n.128+1313G>T c.2677G>T (p.Gly893Trp) c.3250G>T (p.Gly1084Trp) n.16280G>T c.16264G>T (p.Gly5422Trp) c.16186G>T (p.Gly5396Trp) c.13570G>T (p.Gly4524Trp) c.16288G>T (p.Gly5430Trp) c.16285G>T (p.Gly5429Trp) c.16207G>T (p.Gly5403Trp) c.16192G>T (p.Gly5398Trp) c.16108G>T (p.Gly5370Trp) c.9406G>T (p.Gly3136Trp) c.9385G>T (p.Gly3129Trp) n.16283G>T | gnomAD v4 |
5 | g.90823496G>A | CA360425582 | ADGRV1 | c.16268G>A (p.Gly5423Glu) c.5222G>A (p.Gly1741Glu) n.3535G>A c.265+147287G>A (n.265+147287G>A) n.128+1314G>A c.2678G>A (p.Gly893Glu) c.3251G>A (p.Gly1084Glu) n.16281G>A c.16265G>A (p.Gly5422Glu) c.16187G>A (p.Gly5396Glu) c.13571G>A (p.Gly4524Glu) c.16289G>A (p.Gly5430Glu) c.16286G>A (p.Gly5429Glu) c.16208G>A (p.Gly5403Glu) c.16193G>A (p.Gly5398Glu) c.16109G>A (p.Gly5370Glu) c.9407G>A (p.Gly3136Glu) c.9386G>A (p.Gly3129Glu) n.16284G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.90823496G>C | CA3342103 | ADGRV1 | c.16268G>C (p.Gly5423Ala) c.5222G>C (p.Gly1741Ala) n.3535G>C c.265+147287G>C (n.265+147287G>C) n.128+1314G>C c.2678G>C (p.Gly893Ala) c.3251G>C (p.Gly1084Ala) n.16281G>C c.16265G>C (p.Gly5422Ala) c.16187G>C (p.Gly5396Ala) c.13571G>C (p.Gly4524Ala) c.16289G>C (p.Gly5430Ala) c.16286G>C (p.Gly5429Ala) c.16208G>C (p.Gly5403Ala) c.16193G>C (p.Gly5398Ala) c.16109G>C (p.Gly5370Ala) c.9407G>C (p.Gly3136Ala) c.9386G>C (p.Gly3129Ala) n.16284G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823496G= | CA1562918273 | ADGRV1 | c.16268G= (p.Gly5423=) c.5222G= (p.Gly1741=) n.3535G= c.265+147287G= (n.265+147287G=) n.128+1314G= c.2678G= (p.Gly893=) c.3251G= (p.Gly1084=) n.16281G= c.16265G= (p.Gly5422=) c.16187G= (p.Gly5396=) c.13571G= (p.Gly4524=) c.16289G= (p.Gly5430=) c.16286G= (p.Gly5429=) c.16208G= (p.Gly5403=) c.16193G= (p.Gly5398=) c.16109G= (p.Gly5370=) c.9407G= (p.Gly3136=) c.9386G= (p.Gly3129=) n.16284G= | |
5 | g.90823496G>T | CA360425583 | ADGRV1 | c.16268G>T (p.Gly5423Val) c.5222G>T (p.Gly1741Val) n.3535G>T c.265+147287G>T (n.265+147287G>T) n.128+1314G>T c.2678G>T (p.Gly893Val) c.3251G>T (p.Gly1084Val) n.16281G>T c.16265G>T (p.Gly5422Val) c.16187G>T (p.Gly5396Val) c.13571G>T (p.Gly4524Val) c.16289G>T (p.Gly5430Val) c.16286G>T (p.Gly5429Val) c.16208G>T (p.Gly5403Val) c.16193G>T (p.Gly5398Val) c.16109G>T (p.Gly5370Val) c.9407G>T (p.Gly3136Val) c.9386G>T (p.Gly3129Val) n.16284G>T | gnomAD v4 |
5 | g.90823497G>A | CA122804101 | ADGRV1 | c.16269G>A (p.Gly5423=) c.5223G>A (p.Gly1741=) n.3536G>A c.265+147288G>A (n.265+147288G>A) n.128+1315G>A c.2679G>A (p.Gly893=) c.3252G>A (p.Gly1084=) n.16282G>A c.16266G>A (p.Gly5422=) c.16188G>A (p.Gly5396=) c.13572G>A (p.Gly4524=) c.16290G>A (p.Gly5430=) c.16287G>A (p.Gly5429=) c.16209G>A (p.Gly5403=) c.16194G>A (p.Gly5398=) c.16110G>A (p.Gly5370=) c.9408G>A (p.Gly3136=) c.9387G>A (p.Gly3129=) n.16285G>A | dbSNP gnomAD v4 |
5 | g.90823497G>C | CA445436560 | ADGRV1 | c.16269G>C (p.Gly5423=) c.5223G>C (p.Gly1741=) n.3536G>C c.265+147288G>C (n.265+147288G>C) n.128+1315G>C c.2679G>C (p.Gly893=) c.3252G>C (p.Gly1084=) n.16282G>C c.16266G>C (p.Gly5422=) c.16188G>C (p.Gly5396=) c.13572G>C (p.Gly4524=) c.16290G>C (p.Gly5430=) c.16287G>C (p.Gly5429=) c.16209G>C (p.Gly5403=) c.16194G>C (p.Gly5398=) c.16110G>C (p.Gly5370=) c.9408G>C (p.Gly3136=) c.9387G>C (p.Gly3129=) n.16285G>C | |
5 | g.90823497G= | CA1562918274 | ADGRV1 | c.16269G= (p.Gly5423=) c.5223G= (p.Gly1741=) n.3536G= c.265+147288G= (n.265+147288G=) n.128+1315G= c.2679G= (p.Gly893=) c.3252G= (p.Gly1084=) n.16282G= c.16266G= (p.Gly5422=) c.16188G= (p.Gly5396=) c.13572G= (p.Gly4524=) c.16290G= (p.Gly5430=) c.16287G= (p.Gly5429=) c.16209G= (p.Gly5403=) c.16194G= (p.Gly5398=) c.16110G= (p.Gly5370=) c.9408G= (p.Gly3136=) c.9387G= (p.Gly3129=) n.16285G= | |
5 | g.90823497G>T | CA445436561 | ADGRV1 | c.16269G>T (p.Gly5423=) c.5223G>T (p.Gly1741=) n.3536G>T c.265+147288G>T (n.265+147288G>T) n.128+1315G>T c.2679G>T (p.Gly893=) c.3252G>T (p.Gly1084=) n.16282G>T c.16266G>T (p.Gly5422=) c.16188G>T (p.Gly5396=) c.13572G>T (p.Gly4524=) c.16290G>T (p.Gly5430=) c.16287G>T (p.Gly5429=) c.16209G>T (p.Gly5403=) c.16194G>T (p.Gly5398=) c.16110G>T (p.Gly5370=) c.9408G>T (p.Gly3136=) c.9387G>T (p.Gly3129=) n.16285G>T | dbSNP |
5 | g.90823498G>A | CA360425584 | ADGRV1 | c.16270G>A (p.Val5424Ile) c.5224G>A (p.Val1742Ile) n.3537G>A c.265+147289G>A (n.265+147289G>A) n.128+1316G>A c.2680G>A (p.Val894Ile) c.3253G>A (p.Val1085Ile) n.16283G>A c.16267G>A (p.Val5423Ile) c.16189G>A (p.Val5397Ile) c.13573G>A (p.Val4525Ile) c.16291G>A (p.Val5431Ile) c.16288G>A (p.Val5430Ile) c.16210G>A (p.Val5404Ile) c.16195G>A (p.Val5399Ile) c.16111G>A (p.Val5371Ile) c.9409G>A (p.Val3137Ile) c.9388G>A (p.Val3130Ile) n.16286G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823498G>C | CA360425585 | ADGRV1 | c.16270G>C (p.Val5424Leu) c.5224G>C (p.Val1742Leu) n.3537G>C c.265+147289G>C (n.265+147289G>C) n.128+1316G>C c.2680G>C (p.Val894Leu) c.3253G>C (p.Val1085Leu) n.16283G>C c.16267G>C (p.Val5423Leu) c.16189G>C (p.Val5397Leu) c.13573G>C (p.Val4525Leu) c.16291G>C (p.Val5431Leu) c.16288G>C (p.Val5430Leu) c.16210G>C (p.Val5404Leu) c.16195G>C (p.Val5399Leu) c.16111G>C (p.Val5371Leu) c.9409G>C (p.Val3137Leu) c.9388G>C (p.Val3130Leu) n.16286G>C | ClinVar dbSNP |
5 | g.90823498G= | CA1562918275 | ADGRV1 | c.16270G= (p.Val5424=) c.5224G= (p.Val1742=) n.3537G= c.265+147289G= (n.265+147289G=) n.128+1316G= c.2680G= (p.Val894=) c.3253G= (p.Val1085=) n.16283G= c.16267G= (p.Val5423=) c.16189G= (p.Val5397=) c.13573G= (p.Val4525=) c.16291G= (p.Val5431=) c.16288G= (p.Val5430=) c.16210G= (p.Val5404=) c.16195G= (p.Val5399=) c.16111G= (p.Val5371=) c.9409G= (p.Val3137=) c.9388G= (p.Val3130=) n.16286G= | |
5 | g.90823498G>T | CA360425586 | ADGRV1 | c.16270G>T (p.Val5424Leu) c.5224G>T (p.Val1742Leu) n.3537G>T c.265+147289G>T (n.265+147289G>T) n.128+1316G>T c.2680G>T (p.Val894Leu) c.3253G>T (p.Val1085Leu) n.16283G>T c.16267G>T (p.Val5423Leu) c.16189G>T (p.Val5397Leu) c.13573G>T (p.Val4525Leu) c.16291G>T (p.Val5431Leu) c.16288G>T (p.Val5430Leu) c.16210G>T (p.Val5404Leu) c.16195G>T (p.Val5399Leu) c.16111G>T (p.Val5371Leu) c.9409G>T (p.Val3137Leu) c.9388G>T (p.Val3130Leu) n.16286G>T | |
5 | g.90823499T>A | CA360425589 | ADGRV1 | c.16271T>A (p.Val5424Glu) c.5225T>A (p.Val1742Glu) n.3538T>A c.265+147290T>A (n.265+147290T>A) n.128+1317T>A c.2681T>A (p.Val894Glu) c.3254T>A (p.Val1085Glu) n.16284T>A c.16268T>A (p.Val5423Glu) c.16190T>A (p.Val5397Glu) c.13574T>A (p.Val4525Glu) c.16292T>A (p.Val5431Glu) c.16289T>A (p.Val5430Glu) c.16211T>A (p.Val5404Glu) c.16196T>A (p.Val5399Glu) c.16112T>A (p.Val5371Glu) c.9410T>A (p.Val3137Glu) c.9389T>A (p.Val3130Glu) n.16287T>A | |
5 | g.90823499T>C | CA360425588 | ADGRV1 | c.16271T>C (p.Val5424Ala) c.5225T>C (p.Val1742Ala) n.3538T>C c.265+147290T>C (n.265+147290T>C) n.128+1317T>C c.2681T>C (p.Val894Ala) c.3254T>C (p.Val1085Ala) n.16284T>C c.16268T>C (p.Val5423Ala) c.16190T>C (p.Val5397Ala) c.13574T>C (p.Val4525Ala) c.16292T>C (p.Val5431Ala) c.16289T>C (p.Val5430Ala) c.16211T>C (p.Val5404Ala) c.16196T>C (p.Val5399Ala) c.16112T>C (p.Val5371Ala) c.9410T>C (p.Val3137Ala) c.9389T>C (p.Val3130Ala) n.16287T>C | |
5 | g.90823499T>G | CA360425587 | ADGRV1 | c.16271T>G (p.Val5424Gly) c.5225T>G (p.Val1742Gly) n.3538T>G c.265+147290T>G (n.265+147290T>G) n.128+1317T>G c.2681T>G (p.Val894Gly) c.3254T>G (p.Val1085Gly) n.16284T>G c.16268T>G (p.Val5423Gly) c.16190T>G (p.Val5397Gly) c.13574T>G (p.Val4525Gly) c.16292T>G (p.Val5431Gly) c.16289T>G (p.Val5430Gly) c.16211T>G (p.Val5404Gly) c.16196T>G (p.Val5399Gly) c.16112T>G (p.Val5371Gly) c.9410T>G (p.Val3137Gly) c.9389T>G (p.Val3130Gly) n.16287T>G | |
5 | g.90823500A>C | CA445436562 | ADGRV1 | c.16272A>C (p.Val5424=) c.5226A>C (p.Val1742=) n.3539A>C c.265+147291A>C (n.265+147291A>C) n.128+1318A>C c.2682A>C (p.Val894=) c.3255A>C (p.Val1085=) n.16285A>C c.16269A>C (p.Val5423=) c.16191A>C (p.Val5397=) c.13575A>C (p.Val4525=) c.16293A>C (p.Val5431=) c.16290A>C (p.Val5430=) c.16212A>C (p.Val5404=) c.16197A>C (p.Val5399=) c.16113A>C (p.Val5371=) c.9411A>C (p.Val3137=) c.9390A>C (p.Val3130=) n.16288A>C | |
5 | g.90823500A>G | CA445436563 | ADGRV1 | c.16272A>G (p.Val5424=) c.5226A>G (p.Val1742=) n.3539A>G c.265+147291A>G (n.265+147291A>G) n.128+1318A>G c.2682A>G (p.Val894=) c.3255A>G (p.Val1085=) n.16285A>G c.16269A>G (p.Val5423=) c.16191A>G (p.Val5397=) c.13575A>G (p.Val4525=) c.16293A>G (p.Val5431=) c.16290A>G (p.Val5430=) c.16212A>G (p.Val5404=) c.16197A>G (p.Val5399=) c.16113A>G (p.Val5371=) c.9411A>G (p.Val3137=) c.9390A>G (p.Val3130=) n.16288A>G | gnomAD v4 |
5 | g.90823500A>T | CA445436564 | ADGRV1 | c.16272A>T (p.Val5424=) c.5226A>T (p.Val1742=) n.3539A>T c.265+147291A>T (n.265+147291A>T) n.128+1318A>T c.2682A>T (p.Val894=) c.3255A>T (p.Val1085=) n.16285A>T c.16269A>T (p.Val5423=) c.16191A>T (p.Val5397=) c.13575A>T (p.Val4525=) c.16293A>T (p.Val5431=) c.16290A>T (p.Val5430=) c.16212A>T (p.Val5404=) c.16197A>T (p.Val5399=) c.16113A>T (p.Val5371=) c.9411A>T (p.Val3137=) c.9390A>T (p.Val3130=) n.16288A>T | |
5 | g.90823501A= | CA1562918276 | ADGRV1 | c.16273A= (p.Asn5425=) c.5227A= (p.Asn1743=) n.3540A= c.265+147292A= (n.265+147292A=) n.128+1319A= c.2683A= (p.Asn895=) c.3256A= (p.Asn1086=) n.16286A= c.16270A= (p.Asn5424=) c.16192A= (p.Asn5398=) c.13576A= (p.Asn4526=) c.16294A= (p.Asn5432=) c.16291A= (p.Asn5431=) c.16213A= (p.Asn5405=) c.16198A= (p.Asn5400=) c.16114A= (p.Asn5372=) c.9412A= (p.Asn3138=) c.9391A= (p.Asn3131=) n.16289A= | |
5 | g.90823501A>C | CA360425590 | ADGRV1 | c.16273A>C (p.Asn5425His) c.5227A>C (p.Asn1743His) n.3540A>C c.265+147292A>C (n.265+147292A>C) n.128+1319A>C c.2683A>C (p.Asn895His) c.3256A>C (p.Asn1086His) n.16286A>C c.16270A>C (p.Asn5424His) c.16192A>C (p.Asn5398His) c.13576A>C (p.Asn4526His) c.16294A>C (p.Asn5432His) c.16291A>C (p.Asn5431His) c.16213A>C (p.Asn5405His) c.16198A>C (p.Asn5400His) c.16114A>C (p.Asn5372His) c.9412A>C (p.Asn3138His) c.9391A>C (p.Asn3131His) n.16289A>C | |
5 | g.90823501A>G | CA3342104 | ADGRV1 | c.16273A>G (p.Asn5425Asp) c.5227A>G (p.Asn1743Asp) n.3540A>G c.265+147292A>G (n.265+147292A>G) n.128+1319A>G c.2683A>G (p.Asn895Asp) c.3256A>G (p.Asn1086Asp) n.16286A>G c.16270A>G (p.Asn5424Asp) c.16192A>G (p.Asn5398Asp) c.13576A>G (p.Asn4526Asp) c.16294A>G (p.Asn5432Asp) c.16291A>G (p.Asn5431Asp) c.16213A>G (p.Asn5405Asp) c.16198A>G (p.Asn5400Asp) c.16114A>G (p.Asn5372Asp) c.9412A>G (p.Asn3138Asp) c.9391A>G (p.Asn3131Asp) n.16289A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823501A>T | CA360425591 | ADGRV1 | c.16273A>T (p.Asn5425Tyr) c.5227A>T (p.Asn1743Tyr) n.3540A>T c.265+147292A>T (n.265+147292A>T) n.128+1319A>T c.2683A>T (p.Asn895Tyr) c.3256A>T (p.Asn1086Tyr) n.16286A>T c.16270A>T (p.Asn5424Tyr) c.16192A>T (p.Asn5398Tyr) c.13576A>T (p.Asn4526Tyr) c.16294A>T (p.Asn5432Tyr) c.16291A>T (p.Asn5431Tyr) c.16213A>T (p.Asn5405Tyr) c.16198A>T (p.Asn5400Tyr) c.16114A>T (p.Asn5372Tyr) c.9412A>T (p.Asn3138Tyr) c.9391A>T (p.Asn3131Tyr) n.16289A>T | gnomAD v4 |
5 | g.90823502A>C | CA360425592 | ADGRV1 | c.16274A>C (p.Asn5425Thr) c.5228A>C (p.Asn1743Thr) n.3541A>C c.265+147293A>C (n.265+147293A>C) n.128+1320A>C c.2684A>C (p.Asn895Thr) c.3257A>C (p.Asn1086Thr) n.16287A>C c.16271A>C (p.Asn5424Thr) c.16193A>C (p.Asn5398Thr) c.13577A>C (p.Asn4526Thr) c.16295A>C (p.Asn5432Thr) c.16292A>C (p.Asn5431Thr) c.16214A>C (p.Asn5405Thr) c.16199A>C (p.Asn5400Thr) c.16115A>C (p.Asn5372Thr) c.9413A>C (p.Asn3138Thr) c.9392A>C (p.Asn3131Thr) n.16290A>C | |
5 | g.90823502A>G | CA360425594 | ADGRV1 | c.16274A>G (p.Asn5425Ser) c.5228A>G (p.Asn1743Ser) n.3541A>G c.265+147293A>G (n.265+147293A>G) n.128+1320A>G c.2684A>G (p.Asn895Ser) c.3257A>G (p.Asn1086Ser) n.16287A>G c.16271A>G (p.Asn5424Ser) c.16193A>G (p.Asn5398Ser) c.13577A>G (p.Asn4526Ser) c.16295A>G (p.Asn5432Ser) c.16292A>G (p.Asn5431Ser) c.16214A>G (p.Asn5405Ser) c.16199A>G (p.Asn5400Ser) c.16115A>G (p.Asn5372Ser) c.9413A>G (p.Asn3138Ser) c.9392A>G (p.Asn3131Ser) n.16290A>G | |
5 | g.90823502A>T | CA360425593 | ADGRV1 | c.16274A>T (p.Asn5425Ile) c.5228A>T (p.Asn1743Ile) n.3541A>T c.265+147293A>T (n.265+147293A>T) n.128+1320A>T c.2684A>T (p.Asn895Ile) c.3257A>T (p.Asn1086Ile) n.16287A>T c.16271A>T (p.Asn5424Ile) c.16193A>T (p.Asn5398Ile) c.13577A>T (p.Asn4526Ile) c.16295A>T (p.Asn5432Ile) c.16292A>T (p.Asn5431Ile) c.16214A>T (p.Asn5405Ile) c.16199A>T (p.Asn5400Ile) c.16115A>T (p.Asn5372Ile) c.9413A>T (p.Asn3138Ile) c.9392A>T (p.Asn3131Ile) n.16290A>T | |
5 | g.90823503C>A | CA360425595 | ADGRV1 | c.16275C>A (p.Asn5425Lys) c.5229C>A (p.Asn1743Lys) n.3542C>A c.265+147294C>A (n.265+147294C>A) n.128+1321C>A c.2685C>A (p.Asn895Lys) c.3258C>A (p.Asn1086Lys) n.16288C>A c.16272C>A (p.Asn5424Lys) c.16194C>A (p.Asn5398Lys) c.13578C>A (p.Asn4526Lys) c.16296C>A (p.Asn5432Lys) c.16293C>A (p.Asn5431Lys) c.16215C>A (p.Asn5405Lys) c.16200C>A (p.Asn5400Lys) c.16116C>A (p.Asn5372Lys) c.9414C>A (p.Asn3138Lys) c.9393C>A (p.Asn3131Lys) n.16291C>A | |
5 | g.90823503C= | CA1562918277 | ADGRV1 | c.16275C= (p.Asn5425=) c.5229C= (p.Asn1743=) n.3542C= c.265+147294C= (n.265+147294C=) n.128+1321C= c.2685C= (p.Asn895=) c.3258C= (p.Asn1086=) n.16288C= c.16272C= (p.Asn5424=) c.16194C= (p.Asn5398=) c.13578C= (p.Asn4526=) c.16296C= (p.Asn5432=) c.16293C= (p.Asn5431=) c.16215C= (p.Asn5405=) c.16200C= (p.Asn5400=) c.16116C= (p.Asn5372=) c.9414C= (p.Asn3138=) c.9393C= (p.Asn3131=) n.16291C= | |
5 | g.90823503C>G | CA360425596 | ADGRV1 | c.16275C>G (p.Asn5425Lys) c.5229C>G (p.Asn1743Lys) n.3542C>G c.265+147294C>G (n.265+147294C>G) n.128+1321C>G c.2685C>G (p.Asn895Lys) c.3258C>G (p.Asn1086Lys) n.16288C>G c.16272C>G (p.Asn5424Lys) c.16194C>G (p.Asn5398Lys) c.13578C>G (p.Asn4526Lys) c.16296C>G (p.Asn5432Lys) c.16293C>G (p.Asn5431Lys) c.16215C>G (p.Asn5405Lys) c.16200C>G (p.Asn5400Lys) c.16116C>G (p.Asn5372Lys) c.9414C>G (p.Asn3138Lys) c.9393C>G (p.Asn3131Lys) n.16291C>G | |
5 | g.90823503C>T | CA445436565 | ADGRV1 | c.16275C>T (p.Asn5425=) c.5229C>T (p.Asn1743=) n.3542C>T c.265+147294C>T (n.265+147294C>T) n.128+1321C>T c.2685C>T (p.Asn895=) c.3258C>T (p.Asn1086=) n.16288C>T c.16272C>T (p.Asn5424=) c.16194C>T (p.Asn5398=) c.13578C>T (p.Asn4526=) c.16296C>T (p.Asn5432=) c.16293C>T (p.Asn5431=) c.16215C>T (p.Asn5405=) c.16200C>T (p.Asn5400=) c.16116C>T (p.Asn5372=) c.9414C>T (p.Asn3138=) c.9393C>T (p.Asn3131=) n.16291C>T | dbSNP |
5 | g.90823504C>A | CA360425597 | ADGRV1 | c.16276C>A (p.Leu5426Met) c.5230C>A (p.Leu1744Met) n.3543C>A c.265+147295C>A (n.265+147295C>A) n.128+1322C>A c.2686C>A (p.Leu896Met) c.3259C>A (p.Leu1087Met) n.16289C>A c.16273C>A (p.Leu5425Met) c.16195C>A (p.Leu5399Met) c.13579C>A (p.Leu4527Met) c.16297C>A (p.Leu5433Met) c.16294C>A (p.Leu5432Met) c.16216C>A (p.Leu5406Met) c.16201C>A (p.Leu5401Met) c.16117C>A (p.Leu5373Met) c.9415C>A (p.Leu3139Met) c.9394C>A (p.Leu3132Met) n.16292C>A | |
5 | g.90823504C= | CA1562918278 | ADGRV1 | c.16276C= (p.Leu5426=) c.5230C= (p.Leu1744=) n.3543C= c.265+147295C= (n.265+147295C=) n.128+1322C= c.2686C= (p.Leu896=) c.3259C= (p.Leu1087=) n.16289C= c.16273C= (p.Leu5425=) c.16195C= (p.Leu5399=) c.13579C= (p.Leu4527=) c.16297C= (p.Leu5433=) c.16294C= (p.Leu5432=) c.16216C= (p.Leu5406=) c.16201C= (p.Leu5401=) c.16117C= (p.Leu5373=) c.9415C= (p.Leu3139=) c.9394C= (p.Leu3132=) n.16292C= | |
5 | g.90823504C>G | CA360425598 | ADGRV1 | c.16276C>G (p.Leu5426Val) c.5230C>G (p.Leu1744Val) n.3543C>G c.265+147295C>G (n.265+147295C>G) n.128+1322C>G c.2686C>G (p.Leu896Val) c.3259C>G (p.Leu1087Val) n.16289C>G c.16273C>G (p.Leu5425Val) c.16195C>G (p.Leu5399Val) c.13579C>G (p.Leu4527Val) c.16297C>G (p.Leu5433Val) c.16294C>G (p.Leu5432Val) c.16216C>G (p.Leu5406Val) c.16201C>G (p.Leu5401Val) c.16117C>G (p.Leu5373Val) c.9415C>G (p.Leu3139Val) c.9394C>G (p.Leu3132Val) n.16292C>G | |
5 | g.90823504C>T | CA122804105 | ADGRV1 | c.16276C>T (p.Leu5426=) c.5230C>T (p.Leu1744=) n.3543C>T c.265+147295C>T (n.265+147295C>T) n.128+1322C>T c.2686C>T (p.Leu896=) c.3259C>T (p.Leu1087=) n.16289C>T c.16273C>T (p.Leu5425=) c.16195C>T (p.Leu5399=) c.13579C>T (p.Leu4527=) c.16297C>T (p.Leu5433=) c.16294C>T (p.Leu5432=) c.16216C>T (p.Leu5406=) c.16201C>T (p.Leu5401=) c.16117C>T (p.Leu5373=) c.9415C>T (p.Leu3139=) c.9394C>T (p.Leu3132=) n.16292C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823505T>A | CA360425599 | ADGRV1 | c.16277T>A (p.Leu5426Gln) c.5231T>A (p.Leu1744Gln) n.3544T>A c.265+147296T>A (n.265+147296T>A) n.128+1323T>A c.2687T>A (p.Leu896Gln) c.3260T>A (p.Leu1087Gln) n.16290T>A c.16274T>A (p.Leu5425Gln) c.16196T>A (p.Leu5399Gln) c.13580T>A (p.Leu4527Gln) c.16298T>A (p.Leu5433Gln) c.16295T>A (p.Leu5432Gln) c.16217T>A (p.Leu5406Gln) c.16202T>A (p.Leu5401Gln) c.16118T>A (p.Leu5373Gln) c.9416T>A (p.Leu3139Gln) c.9395T>A (p.Leu3132Gln) n.16293T>A | |
5 | g.90823505T>C | CA360425600 | ADGRV1 | c.16277T>C (p.Leu5426Pro) c.5231T>C (p.Leu1744Pro) n.3544T>C c.265+147296T>C (n.265+147296T>C) n.128+1323T>C c.2687T>C (p.Leu896Pro) c.3260T>C (p.Leu1087Pro) n.16290T>C c.16274T>C (p.Leu5425Pro) c.16196T>C (p.Leu5399Pro) c.13580T>C (p.Leu4527Pro) c.16298T>C (p.Leu5433Pro) c.16295T>C (p.Leu5432Pro) c.16217T>C (p.Leu5406Pro) c.16202T>C (p.Leu5401Pro) c.16118T>C (p.Leu5373Pro) c.9416T>C (p.Leu3139Pro) c.9395T>C (p.Leu3132Pro) n.16293T>C | |
5 | g.90823505T>G | CA360425601 | ADGRV1 | c.16277T>G (p.Leu5426Arg) c.5231T>G (p.Leu1744Arg) n.3544T>G c.265+147296T>G (n.265+147296T>G) n.128+1323T>G c.2687T>G (p.Leu896Arg) c.3260T>G (p.Leu1087Arg) n.16290T>G c.16274T>G (p.Leu5425Arg) c.16196T>G (p.Leu5399Arg) c.13580T>G (p.Leu4527Arg) c.16298T>G (p.Leu5433Arg) c.16295T>G (p.Leu5432Arg) c.16217T>G (p.Leu5406Arg) c.16202T>G (p.Leu5401Arg) c.16118T>G (p.Leu5373Arg) c.9416T>G (p.Leu3139Arg) c.9395T>G (p.Leu3132Arg) n.16293T>G | |
5 | g.90823508_90823510del | CA2674577101 | ADGRV1 | c.16280_16282del (p.Val5427del) c.5234_5236del (p.Val1745del) n.3547_3549del c.265+147299_265+147301del (n.265+147299_265+147301del) n.128+1326_128+1328del c.2690_2692del (p.Val897del) c.3263_3265del (p.Val1088del) n.16293_16295del c.16277_16279del (p.Val5426del) c.16199_16201del (p.Val5400del) c.13583_13585del (p.Val4528del) c.16301_16303del (p.Val5434del) c.16298_16300del (p.Val5433del) c.16220_16222del (p.Val5407del) c.16205_16207del (p.Val5402del) c.16121_16123del (p.Val5374del) c.9419_9421del (p.Val3140del) c.9398_9400del (p.Val3133del) n.16296_16298del | gnomAD v4 |
5 | g.90823506G>A | CA445436566 | ADGRV1 | c.16278G>A (p.Leu5426=) c.5232G>A (p.Leu1744=) n.3545G>A c.265+147297G>A (n.265+147297G>A) n.128+1324G>A c.2688G>A (p.Leu896=) c.3261G>A (p.Leu1087=) n.16291G>A c.16275G>A (p.Leu5425=) c.16197G>A (p.Leu5399=) c.13581G>A (p.Leu4527=) c.16299G>A (p.Leu5433=) c.16296G>A (p.Leu5432=) c.16218G>A (p.Leu5406=) c.16203G>A (p.Leu5401=) c.16119G>A (p.Leu5373=) c.9417G>A (p.Leu3139=) c.9396G>A (p.Leu3132=) n.16294G>A | |
5 | g.90823506G>C | CA445436567 | ADGRV1 | c.16278G>C (p.Leu5426=) c.5232G>C (p.Leu1744=) n.3545G>C c.265+147297G>C (n.265+147297G>C) n.128+1324G>C c.2688G>C (p.Leu896=) c.3261G>C (p.Leu1087=) n.16291G>C c.16275G>C (p.Leu5425=) c.16197G>C (p.Leu5399=) c.13581G>C (p.Leu4527=) c.16299G>C (p.Leu5433=) c.16296G>C (p.Leu5432=) c.16218G>C (p.Leu5406=) c.16203G>C (p.Leu5401=) c.16119G>C (p.Leu5373=) c.9417G>C (p.Leu3139=) c.9396G>C (p.Leu3132=) n.16294G>C | dbSNP gnomAD v4 |
5 | g.90823506G= | CA1562918279 | ADGRV1 | c.16278G= (p.Leu5426=) c.5232G= (p.Leu1744=) n.3545G= c.265+147297G= (n.265+147297G=) n.128+1324G= c.2688G= (p.Leu896=) c.3261G= (p.Leu1087=) n.16291G= c.16275G= (p.Leu5425=) c.16197G= (p.Leu5399=) c.13581G= (p.Leu4527=) c.16299G= (p.Leu5433=) c.16296G= (p.Leu5432=) c.16218G= (p.Leu5406=) c.16203G= (p.Leu5401=) c.16119G= (p.Leu5373=) c.9417G= (p.Leu3139=) c.9396G= (p.Leu3132=) n.16294G= | |
5 | g.90823506G>T | CA445436568 | ADGRV1 | c.16278G>T (p.Leu5426=) c.5232G>T (p.Leu1744=) n.3545G>T c.265+147297G>T (n.265+147297G>T) n.128+1324G>T c.2688G>T (p.Leu896=) c.3261G>T (p.Leu1087=) n.16291G>T c.16275G>T (p.Leu5425=) c.16197G>T (p.Leu5399=) c.13581G>T (p.Leu4527=) c.16299G>T (p.Leu5433=) c.16296G>T (p.Leu5432=) c.16218G>T (p.Leu5406=) c.16203G>T (p.Leu5401=) c.16119G>T (p.Leu5373=) c.9417G>T (p.Leu3139=) c.9396G>T (p.Leu3132=) n.16294G>T | |
5 | g.90823507G>A | CA138057 | ADGRV1 | c.16279G>A (p.Val5427Met) c.5233G>A (p.Val1745Met) n.3546G>A c.265+147298G>A (n.265+147298G>A) n.128+1325G>A c.2689G>A (p.Val897Met) c.3262G>A (p.Val1088Met) n.16292G>A c.16276G>A (p.Val5426Met) c.16198G>A (p.Val5400Met) c.13582G>A (p.Val4528Met) c.16300G>A (p.Val5434Met) c.16297G>A (p.Val5433Met) c.16219G>A (p.Val5407Met) c.16204G>A (p.Val5402Met) c.16120G>A (p.Val5374Met) c.9418G>A (p.Val3140Met) c.9397G>A (p.Val3133Met) n.16295G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823507G>C | CA360425602 | ADGRV1 | c.16279G>C (p.Val5427Leu) c.5233G>C (p.Val1745Leu) n.3546G>C c.265+147298G>C (n.265+147298G>C) n.128+1325G>C c.2689G>C (p.Val897Leu) c.3262G>C (p.Val1088Leu) n.16292G>C c.16276G>C (p.Val5426Leu) c.16198G>C (p.Val5400Leu) c.13582G>C (p.Val4528Leu) c.16300G>C (p.Val5434Leu) c.16297G>C (p.Val5433Leu) c.16219G>C (p.Val5407Leu) c.16204G>C (p.Val5402Leu) c.16120G>C (p.Val5374Leu) c.9418G>C (p.Val3140Leu) c.9397G>C (p.Val3133Leu) n.16295G>C | dbSNP gnomAD v4 |
5 | g.90823507G= | CA1562918281 | ADGRV1 | c.16279G= (p.Val5427=) c.5233G= (p.Val1745=) n.3546G= c.265+147298G= (n.265+147298G=) n.128+1325G= c.2689G= (p.Val897=) c.3262G= (p.Val1088=) n.16292G= c.16276G= (p.Val5426=) c.16198G= (p.Val5400=) c.13582G= (p.Val4528=) c.16300G= (p.Val5434=) c.16297G= (p.Val5433=) c.16219G= (p.Val5407=) c.16204G= (p.Val5402=) c.16120G= (p.Val5374=) c.9418G= (p.Val3140=) c.9397G= (p.Val3133=) n.16295G= | |
5 | g.90823507G>T | CA360425603 | ADGRV1 | c.16279G>T (p.Val5427Leu) c.5233G>T (p.Val1745Leu) n.3546G>T c.265+147298G>T (n.265+147298G>T) n.128+1325G>T c.2689G>T (p.Val897Leu) c.3262G>T (p.Val1088Leu) n.16292G>T c.16276G>T (p.Val5426Leu) c.16198G>T (p.Val5400Leu) c.13582G>T (p.Val4528Leu) c.16300G>T (p.Val5434Leu) c.16297G>T (p.Val5433Leu) c.16219G>T (p.Val5407Leu) c.16204G>T (p.Val5402Leu) c.16120G>T (p.Val5374Leu) c.9418G>T (p.Val3140Leu) c.9397G>T (p.Val3133Leu) n.16295G>T | dbSNP gnomAD v4 |
5 | g.90823507_90823508delinsAA | CA916082738 | ADGRV1 | c.16279_16280delinsAA (p.Val5427Lys) c.5233_5234delinsAA (p.Val1745Lys) n.3546_3547delinsAA c.265+147298_265+147299delinsAA (n.265+147298_265+147299delinsAA) n.128+1325_128+1326delinsAA c.2689_2690delinsAA (p.Val897Lys) c.3262_3263delinsAA (p.Val1088Lys) n.16292_16293delinsAA c.16276_16277delinsAA (p.Val5426Lys) c.16198_16199delinsAA (p.Val5400Lys) c.13582_13583delinsAA (p.Val4528Lys) c.16300_16301delinsAA (p.Val5434Lys) c.16297_16298delinsAA (p.Val5433Lys) c.16219_16220delinsAA (p.Val5407Lys) c.16204_16205delinsAA (p.Val5402Lys) c.16120_16121delinsAA (p.Val5374Lys) c.9418_9419delinsAA (p.Val3140Lys) c.9397_9398delinsAA (p.Val3133Lys) n.16295_16296delinsAA | ClinVar dbSNP |
5 | g.90823507_90823508delinsGT | CA1562918280 | ADGRV1 | c.16279_16280delinsGT (p.Val5427=) c.5233_5234delinsGT (p.Val1745=) n.3546_3547delinsGT c.265+147298_265+147299delinsGT (n.265+147298_265+147299delinsGT) n.128+1325_128+1326delinsGT c.2689_2690delinsGT (p.Val897=) c.3262_3263delinsGT (p.Val1088=) n.16292_16293delinsGT c.16276_16277delinsGT (p.Val5426=) c.16198_16199delinsGT (p.Val5400=) c.13582_13583delinsGT (p.Val4528=) c.16300_16301delinsGT (p.Val5434=) c.16297_16298delinsGT (p.Val5433=) c.16219_16220delinsGT (p.Val5407=) c.16204_16205delinsGT (p.Val5402=) c.16120_16121delinsGT (p.Val5374=) c.9418_9419delinsGT (p.Val3140=) c.9397_9398delinsGT (p.Val3133=) n.16295_16296delinsGT | |
5 | g.90823508T>A | CA3342105 | ADGRV1 | c.16280T>A (p.Val5427Glu) c.5234T>A (p.Val1745Glu) n.3547T>A c.265+147299T>A (n.265+147299T>A) n.128+1326T>A c.2690T>A (p.Val897Glu) c.3263T>A (p.Val1088Glu) n.16293T>A c.16277T>A (p.Val5426Glu) c.16199T>A (p.Val5400Glu) c.13583T>A (p.Val4528Glu) c.16301T>A (p.Val5434Glu) c.16298T>A (p.Val5433Glu) c.16220T>A (p.Val5407Glu) c.16205T>A (p.Val5402Glu) c.16121T>A (p.Val5374Glu) c.9419T>A (p.Val3140Glu) c.9398T>A (p.Val3133Glu) n.16296T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823508T>C | CA360425604 | ADGRV1 | c.16280T>C (p.Val5427Ala) c.5234T>C (p.Val1745Ala) n.3547T>C c.265+147299T>C (n.265+147299T>C) n.128+1326T>C c.2690T>C (p.Val897Ala) c.3263T>C (p.Val1088Ala) n.16293T>C c.16277T>C (p.Val5426Ala) c.16199T>C (p.Val5400Ala) c.13583T>C (p.Val4528Ala) c.16301T>C (p.Val5434Ala) c.16298T>C (p.Val5433Ala) c.16220T>C (p.Val5407Ala) c.16205T>C (p.Val5402Ala) c.16121T>C (p.Val5374Ala) c.9419T>C (p.Val3140Ala) c.9398T>C (p.Val3133Ala) n.16296T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823508T>G | CA360425605 | ADGRV1 | c.16280T>G (p.Val5427Gly) c.5234T>G (p.Val1745Gly) n.3547T>G c.265+147299T>G (n.265+147299T>G) n.128+1326T>G c.2690T>G (p.Val897Gly) c.3263T>G (p.Val1088Gly) n.16293T>G c.16277T>G (p.Val5426Gly) c.16199T>G (p.Val5400Gly) c.13583T>G (p.Val4528Gly) c.16301T>G (p.Val5434Gly) c.16298T>G (p.Val5433Gly) c.16220T>G (p.Val5407Gly) c.16205T>G (p.Val5402Gly) c.16121T>G (p.Val5374Gly) c.9419T>G (p.Val3140Gly) c.9398T>G (p.Val3133Gly) n.16296T>G | |
5 | g.90823508T= | CA1562918282 | ADGRV1 | c.16280T= (p.Val5427=) c.5234T= (p.Val1745=) n.3547T= c.265+147299T= (n.265+147299T=) n.128+1326T= c.2690T= (p.Val897=) c.3263T= (p.Val1088=) n.16293T= c.16277T= (p.Val5426=) c.16199T= (p.Val5400=) c.13583T= (p.Val4528=) c.16301T= (p.Val5434=) c.16298T= (p.Val5433=) c.16220T= (p.Val5407=) c.16205T= (p.Val5402=) c.16121T= (p.Val5374=) c.9419T= (p.Val3140=) c.9398T= (p.Val3133=) n.16296T= | |
5 | g.90823508_90823509insTCCTCCATCAGGTT | CA2674577102 | ADGRV1 | c.16280_16281insTCCTCCATCAGGTT (p.Glu5428ProfsTer?) c.5234_5235insTCCTCCATCAGGTT (p.Glu1746ProfsTer?) n.3547_3548insTCCTCCATCAGGTT c.265+147299_265+147300insTCCTCCATCAGGTT (n.265+147299_265+147300insTCCTCCATCAGGTT) n.128+1326_128+1327insTCCTCCATCAGGTT c.2690_2691insTCCTCCATCAGGTT (p.Glu898ProfsTer?) c.3263_3264insTCCTCCATCAGGTT (p.Glu1089ProfsTer?) n.16293_16294insTCCTCCATCAGGTT c.16277_16278insTCCTCCATCAGGTT (p.Glu5427ProfsTer?) c.16199_16200insTCCTCCATCAGGTT (p.Glu5401ProfsTer?) c.13583_13584insTCCTCCATCAGGTT (p.Glu4529ProfsTer?) c.16301_16302insTCCTCCATCAGGTT (p.Glu5435ProfsTer?) c.16298_16299insTCCTCCATCAGGTT (p.Glu5434ProfsTer?) c.16220_16221insTCCTCCATCAGGTT (p.Glu5408ProfsTer?) c.16205_16206insTCCTCCATCAGGTT (p.Glu5403ProfsTer?) c.16121_16122insTCCTCCATCAGGTT (p.Glu5375ProfsTer?) c.9419_9420insTCCTCCATCAGGTT (p.Glu3141ProfsTer?) c.9398_9399insTCCTCCATCAGGTT (p.Glu3134ProfsTer?) n.16296_16297insTCCTCCATCAGGTT | gnomAD v4 |
5 | g.90823509G>A | CA445436570 | ADGRV1 | c.16281G>A (p.Val5427=) c.5235G>A (p.Val1745=) n.3548G>A c.265+147300G>A (n.265+147300G>A) n.128+1327G>A c.2691G>A (p.Val897=) c.3264G>A (p.Val1088=) n.16294G>A c.16278G>A (p.Val5426=) c.16200G>A (p.Val5400=) c.13584G>A (p.Val4528=) c.16302G>A (p.Val5434=) c.16299G>A (p.Val5433=) c.16221G>A (p.Val5407=) c.16206G>A (p.Val5402=) c.16122G>A (p.Val5374=) c.9420G>A (p.Val3140=) c.9399G>A (p.Val3133=) n.16297G>A | |
5 | g.90823509G>C | CA445436569 | ADGRV1 | c.16281G>C (p.Val5427=) c.5235G>C (p.Val1745=) n.3548G>C c.265+147300G>C (n.265+147300G>C) n.128+1327G>C c.2691G>C (p.Val897=) c.3264G>C (p.Val1088=) n.16294G>C c.16278G>C (p.Val5426=) c.16200G>C (p.Val5400=) c.13584G>C (p.Val4528=) c.16302G>C (p.Val5434=) c.16299G>C (p.Val5433=) c.16221G>C (p.Val5407=) c.16206G>C (p.Val5402=) c.16122G>C (p.Val5374=) c.9420G>C (p.Val3140=) c.9399G>C (p.Val3133=) n.16297G>C | |
5 | g.90823509G>T | CA445436571 | ADGRV1 | c.16281G>T (p.Val5427=) c.5235G>T (p.Val1745=) n.3548G>T c.265+147300G>T (n.265+147300G>T) n.128+1327G>T c.2691G>T (p.Val897=) c.3264G>T (p.Val1088=) n.16294G>T c.16278G>T (p.Val5426=) c.16200G>T (p.Val5400=) c.13584G>T (p.Val4528=) c.16302G>T (p.Val5434=) c.16299G>T (p.Val5433=) c.16221G>T (p.Val5407=) c.16206G>T (p.Val5402=) c.16122G>T (p.Val5374=) c.9420G>T (p.Val3140=) c.9399G>T (p.Val3133=) n.16297G>T | gnomAD v4 |
5 | g.90823510G>A | CA360425606 | ADGRV1 | c.16282G>A (p.Glu5428Lys) c.5236G>A (p.Glu1746Lys) n.3549G>A c.265+147301G>A (n.265+147301G>A) n.128+1328G>A c.2692G>A (p.Glu898Lys) c.3265G>A (p.Glu1089Lys) n.16295G>A c.16279G>A (p.Glu5427Lys) c.16201G>A (p.Glu5401Lys) c.13585G>A (p.Glu4529Lys) c.16303G>A (p.Glu5435Lys) c.16300G>A (p.Glu5434Lys) c.16222G>A (p.Glu5408Lys) c.16207G>A (p.Glu5403Lys) c.16123G>A (p.Glu5375Lys) c.9421G>A (p.Glu3141Lys) c.9400G>A (p.Glu3134Lys) n.16298G>A | |
5 | g.90823510G>C | CA3342106 | ADGRV1 | c.16282G>C (p.Glu5428Gln) c.5236G>C (p.Glu1746Gln) n.3549G>C c.265+147301G>C (n.265+147301G>C) n.128+1328G>C c.2692G>C (p.Glu898Gln) c.3265G>C (p.Glu1089Gln) n.16295G>C c.16279G>C (p.Glu5427Gln) c.16201G>C (p.Glu5401Gln) c.13585G>C (p.Glu4529Gln) c.16303G>C (p.Glu5435Gln) c.16300G>C (p.Glu5434Gln) c.16222G>C (p.Glu5408Gln) c.16207G>C (p.Glu5403Gln) c.16123G>C (p.Glu5375Gln) c.9421G>C (p.Glu3141Gln) c.9400G>C (p.Glu3134Gln) n.16298G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823510G= | CA1562918283 | ADGRV1 | c.16282G= (p.Glu5428=) c.5236G= (p.Glu1746=) n.3549G= c.265+147301G= (n.265+147301G=) n.128+1328G= c.2692G= (p.Glu898=) c.3265G= (p.Glu1089=) n.16295G= c.16279G= (p.Glu5427=) c.16201G= (p.Glu5401=) c.13585G= (p.Glu4529=) c.16303G= (p.Glu5435=) c.16300G= (p.Glu5434=) c.16222G= (p.Glu5408=) c.16207G= (p.Glu5403=) c.16123G= (p.Glu5375=) c.9421G= (p.Glu3141=) c.9400G= (p.Glu3134=) n.16298G= | |
5 | g.90823510G>T | CA360425607 | ADGRV1 | c.16282G>T (p.Glu5428Ter) c.5236G>T (p.Glu1746Ter) n.3549G>T c.265+147301G>T (n.265+147301G>T) n.128+1328G>T c.2692G>T (p.Glu898Ter) c.3265G>T (p.Glu1089Ter) n.16295G>T c.16279G>T (p.Glu5427Ter) c.16201G>T (p.Glu5401Ter) c.13585G>T (p.Glu4529Ter) c.16303G>T (p.Glu5435Ter) c.16300G>T (p.Glu5434Ter) c.16222G>T (p.Glu5408Ter) c.16207G>T (p.Glu5403Ter) c.16123G>T (p.Glu5375Ter) c.9421G>T (p.Glu3141Ter) c.9400G>T (p.Glu3134Ter) n.16298G>T | |
5 | g.90823511A= | CA1562918284 | ADGRV1 | c.16283A= (p.Glu5428=) c.5237A= (p.Glu1746=) n.3550A= c.265+147302A= (n.265+147302A=) n.128+1329A= c.2693A= (p.Glu898=) c.3266A= (p.Glu1089=) n.16296A= c.16280A= (p.Glu5427=) c.16202A= (p.Glu5401=) c.13586A= (p.Glu4529=) c.16304A= (p.Glu5435=) c.16301A= (p.Glu5434=) c.16223A= (p.Glu5408=) c.16208A= (p.Glu5403=) c.16124A= (p.Glu5375=) c.9422A= (p.Glu3141=) c.9401A= (p.Glu3134=) n.16299A= | |
5 | g.90823511A>C | CA360425608 | ADGRV1 | c.16283A>C (p.Glu5428Ala) c.5237A>C (p.Glu1746Ala) n.3550A>C c.265+147302A>C (n.265+147302A>C) n.128+1329A>C c.2693A>C (p.Glu898Ala) c.3266A>C (p.Glu1089Ala) n.16296A>C c.16280A>C (p.Glu5427Ala) c.16202A>C (p.Glu5401Ala) c.13586A>C (p.Glu4529Ala) c.16304A>C (p.Glu5435Ala) c.16301A>C (p.Glu5434Ala) c.16223A>C (p.Glu5408Ala) c.16208A>C (p.Glu5403Ala) c.16124A>C (p.Glu5375Ala) c.9422A>C (p.Glu3141Ala) c.9401A>C (p.Glu3134Ala) n.16299A>C | |
5 | g.90823511A>G | CA360425609 | ADGRV1 | c.16283A>G (p.Glu5428Gly) c.5237A>G (p.Glu1746Gly) n.3550A>G c.265+147302A>G (n.265+147302A>G) n.128+1329A>G c.2693A>G (p.Glu898Gly) c.3266A>G (p.Glu1089Gly) n.16296A>G c.16280A>G (p.Glu5427Gly) c.16202A>G (p.Glu5401Gly) c.13586A>G (p.Glu4529Gly) c.16304A>G (p.Glu5435Gly) c.16301A>G (p.Glu5434Gly) c.16223A>G (p.Glu5408Gly) c.16208A>G (p.Glu5403Gly) c.16124A>G (p.Glu5375Gly) c.9422A>G (p.Glu3141Gly) c.9401A>G (p.Glu3134Gly) n.16299A>G | |
5 | g.90823511A>T | CA360425610 | ADGRV1 | c.16283A>T (p.Glu5428Val) c.5237A>T (p.Glu1746Val) n.3550A>T c.265+147302A>T (n.265+147302A>T) n.128+1329A>T c.2693A>T (p.Glu898Val) c.3266A>T (p.Glu1089Val) n.16296A>T c.16280A>T (p.Glu5427Val) c.16202A>T (p.Glu5401Val) c.13586A>T (p.Glu4529Val) c.16304A>T (p.Glu5435Val) c.16301A>T (p.Glu5434Val) c.16223A>T (p.Glu5408Val) c.16208A>T (p.Glu5403Val) c.16124A>T (p.Glu5375Val) c.9422A>T (p.Glu3141Val) c.9401A>T (p.Glu3134Val) n.16299A>T | ClinVar dbSNP |
5 | g.90823512G>A | CA445436572 | ADGRV1 | c.16284G>A (p.Glu5428=) c.5238G>A (p.Glu1746=) n.3551G>A c.265+147303G>A (n.265+147303G>A) n.128+1330G>A c.2694G>A (p.Glu898=) c.3267G>A (p.Glu1089=) n.16297G>A c.16281G>A (p.Glu5427=) c.16203G>A (p.Glu5401=) c.13587G>A (p.Glu4529=) c.16305G>A (p.Glu5435=) c.16302G>A (p.Glu5434=) c.16224G>A (p.Glu5408=) c.16209G>A (p.Glu5403=) c.16125G>A (p.Glu5375=) c.9423G>A (p.Glu3141=) c.9402G>A (p.Glu3134=) n.16300G>A | gnomAD v4 |
5 | g.90823512G>C | CA360425611 | ADGRV1 | c.16284G>C (p.Glu5428Asp) c.5238G>C (p.Glu1746Asp) n.3551G>C c.265+147303G>C (n.265+147303G>C) n.128+1330G>C c.2694G>C (p.Glu898Asp) c.3267G>C (p.Glu1089Asp) n.16297G>C c.16281G>C (p.Glu5427Asp) c.16203G>C (p.Glu5401Asp) c.13587G>C (p.Glu4529Asp) c.16305G>C (p.Glu5435Asp) c.16302G>C (p.Glu5434Asp) c.16224G>C (p.Glu5408Asp) c.16209G>C (p.Glu5403Asp) c.16125G>C (p.Glu5375Asp) c.9423G>C (p.Glu3141Asp) c.9402G>C (p.Glu3134Asp) n.16300G>C | |
5 | g.90823512G>T | CA360425612 | ADGRV1 | c.16284G>T (p.Glu5428Asp) c.5238G>T (p.Glu1746Asp) n.3551G>T c.265+147303G>T (n.265+147303G>T) n.128+1330G>T c.2694G>T (p.Glu898Asp) c.3267G>T (p.Glu1089Asp) n.16297G>T c.16281G>T (p.Glu5427Asp) c.16203G>T (p.Glu5401Asp) c.13587G>T (p.Glu4529Asp) c.16305G>T (p.Glu5435Asp) c.16302G>T (p.Glu5434Asp) c.16224G>T (p.Glu5408Asp) c.16209G>T (p.Glu5403Asp) c.16125G>T (p.Glu5375Asp) c.9423G>T (p.Glu3141Asp) c.9402G>T (p.Glu3134Asp) n.16300G>T | |
5 | g.90823513G>A | CA176242 | ADGRV1 | c.16285G>A (p.Glu5429Lys) c.5239G>A (p.Glu1747Lys) n.3552G>A c.265+147304G>A (n.265+147304G>A) n.128+1331G>A c.2695G>A (p.Glu899Lys) c.3268G>A (p.Glu1090Lys) n.16298G>A c.16282G>A (p.Glu5428Lys) c.16204G>A (p.Glu5402Lys) c.13588G>A (p.Glu4530Lys) c.16306G>A (p.Glu5436Lys) c.16303G>A (p.Glu5435Lys) c.16225G>A (p.Glu5409Lys) c.16210G>A (p.Glu5404Lys) c.16126G>A (p.Glu5376Lys) c.9424G>A (p.Glu3142Lys) c.9403G>A (p.Glu3135Lys) n.16301G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823513G>C | CA3342107 | ADGRV1 | c.16285G>C (p.Glu5429Gln) c.5239G>C (p.Glu1747Gln) n.3552G>C c.265+147304G>C (n.265+147304G>C) n.128+1331G>C c.2695G>C (p.Glu899Gln) c.3268G>C (p.Glu1090Gln) n.16298G>C c.16282G>C (p.Glu5428Gln) c.16204G>C (p.Glu5402Gln) c.13588G>C (p.Glu4530Gln) c.16306G>C (p.Glu5436Gln) c.16303G>C (p.Glu5435Gln) c.16225G>C (p.Glu5409Gln) c.16210G>C (p.Glu5404Gln) c.16126G>C (p.Glu5376Gln) c.9424G>C (p.Glu3142Gln) c.9403G>C (p.Glu3135Gln) n.16301G>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.90823513G= | CA1562918285 | ADGRV1 | c.16285G= (p.Glu5429=) c.5239G= (p.Glu1747=) n.3552G= c.265+147304G= (n.265+147304G=) n.128+1331G= c.2695G= (p.Glu899=) c.3268G= (p.Glu1090=) n.16298G= c.16282G= (p.Glu5428=) c.16204G= (p.Glu5402=) c.13588G= (p.Glu4530=) c.16306G= (p.Glu5436=) c.16303G= (p.Glu5435=) c.16225G= (p.Glu5409=) c.16210G= (p.Glu5404=) c.16126G= (p.Glu5376=) c.9424G= (p.Glu3142=) c.9403G= (p.Glu3135=) n.16301G= | |
5 | g.90823513G>T | CA360425613 | ADGRV1 | c.16285G>T (p.Glu5429Ter) c.5239G>T (p.Glu1747Ter) n.3552G>T c.265+147304G>T (n.265+147304G>T) n.128+1331G>T c.2695G>T (p.Glu899Ter) c.3268G>T (p.Glu1090Ter) n.16298G>T c.16282G>T (p.Glu5428Ter) c.16204G>T (p.Glu5402Ter) c.13588G>T (p.Glu4530Ter) c.16306G>T (p.Glu5436Ter) c.16303G>T (p.Glu5435Ter) c.16225G>T (p.Glu5409Ter) c.16210G>T (p.Glu5404Ter) c.16126G>T (p.Glu5376Ter) c.9424G>T (p.Glu3142Ter) c.9403G>T (p.Glu3135Ter) n.16301G>T | |
5 | g.90823514A>C | CA360425614 | ADGRV1 | c.16286A>C (p.Glu5429Ala) c.5240A>C (p.Glu1747Ala) n.3553A>C c.265+147305A>C (n.265+147305A>C) n.128+1332A>C c.2696A>C (p.Glu899Ala) c.3269A>C (p.Glu1090Ala) n.16299A>C c.16283A>C (p.Glu5428Ala) c.16205A>C (p.Glu5402Ala) c.13589A>C (p.Glu4530Ala) c.16307A>C (p.Glu5436Ala) c.16304A>C (p.Glu5435Ala) c.16226A>C (p.Glu5409Ala) c.16211A>C (p.Glu5404Ala) c.16127A>C (p.Glu5376Ala) c.9425A>C (p.Glu3142Ala) c.9404A>C (p.Glu3135Ala) n.16302A>C | |
5 | g.90823514A>G | CA360425615 | ADGRV1 | c.16286A>G (p.Glu5429Gly) c.5240A>G (p.Glu1747Gly) n.3553A>G c.265+147305A>G (n.265+147305A>G) n.128+1332A>G c.2696A>G (p.Glu899Gly) c.3269A>G (p.Glu1090Gly) n.16299A>G c.16283A>G (p.Glu5428Gly) c.16205A>G (p.Glu5402Gly) c.13589A>G (p.Glu4530Gly) c.16307A>G (p.Glu5436Gly) c.16304A>G (p.Glu5435Gly) c.16226A>G (p.Glu5409Gly) c.16211A>G (p.Glu5404Gly) c.16127A>G (p.Glu5376Gly) c.9425A>G (p.Glu3142Gly) c.9404A>G (p.Glu3135Gly) n.16302A>G | |
5 | g.90823514A>T | CA360425616 | ADGRV1 | c.16286A>T (p.Glu5429Val) c.5240A>T (p.Glu1747Val) n.3553A>T c.265+147305A>T (n.265+147305A>T) n.128+1332A>T c.2696A>T (p.Glu899Val) c.3269A>T (p.Glu1090Val) n.16299A>T c.16283A>T (p.Glu5428Val) c.16205A>T (p.Glu5402Val) c.13589A>T (p.Glu4530Val) c.16307A>T (p.Glu5436Val) c.16304A>T (p.Glu5435Val) c.16226A>T (p.Glu5409Val) c.16211A>T (p.Glu5404Val) c.16127A>T (p.Glu5376Val) c.9425A>T (p.Glu3142Val) c.9404A>T (p.Glu3135Val) n.16302A>T | |
5 | g.90823515A>C | CA360425618 | ADGRV1 | c.16287A>C (p.Glu5429Asp) c.5241A>C (p.Glu1747Asp) n.3554A>C c.265+147306A>C (n.265+147306A>C) n.128+1333A>C c.2697A>C (p.Glu899Asp) c.3270A>C (p.Glu1090Asp) n.16300A>C c.16284A>C (p.Glu5428Asp) c.16206A>C (p.Glu5402Asp) c.13590A>C (p.Glu4530Asp) c.16308A>C (p.Glu5436Asp) c.16305A>C (p.Glu5435Asp) c.16227A>C (p.Glu5409Asp) c.16212A>C (p.Glu5404Asp) c.16128A>C (p.Glu5376Asp) c.9426A>C (p.Glu3142Asp) c.9405A>C (p.Glu3135Asp) n.16303A>C | |
5 | g.90823515A>G | CA445436573 | ADGRV1 | c.16287A>G (p.Glu5429=) c.5241A>G (p.Glu1747=) n.3554A>G c.265+147306A>G (n.265+147306A>G) n.128+1333A>G c.2697A>G (p.Glu899=) c.3270A>G (p.Glu1090=) n.16300A>G c.16284A>G (p.Glu5428=) c.16206A>G (p.Glu5402=) c.13590A>G (p.Glu4530=) c.16308A>G (p.Glu5436=) c.16305A>G (p.Glu5435=) c.16227A>G (p.Glu5409=) c.16212A>G (p.Glu5404=) c.16128A>G (p.Glu5376=) c.9426A>G (p.Glu3142=) c.9405A>G (p.Glu3135=) n.16303A>G | gnomAD v4 |
5 | g.90823515A>T | CA360425617 | ADGRV1 | c.16287A>T (p.Glu5429Asp) c.5241A>T (p.Glu1747Asp) n.3554A>T c.265+147306A>T (n.265+147306A>T) n.128+1333A>T c.2697A>T (p.Glu899Asp) c.3270A>T (p.Glu1090Asp) n.16300A>T c.16284A>T (p.Glu5428Asp) c.16206A>T (p.Glu5402Asp) c.13590A>T (p.Glu4530Asp) c.16308A>T (p.Glu5436Asp) c.16305A>T (p.Glu5435Asp) c.16227A>T (p.Glu5409Asp) c.16212A>T (p.Glu5404Asp) c.16128A>T (p.Glu5376Asp) c.9426A>T (p.Glu3142Asp) c.9405A>T (p.Glu3135Asp) n.16303A>T | |
5 | g.90823516C>A | CA360425619 | ADGRV1 | c.16288C>A (p.Leu5430Ile) c.5242C>A (p.Leu1748Ile) n.3555C>A c.265+147307C>A (n.265+147307C>A) n.128+1334C>A c.2698C>A (p.Leu900Ile) c.3271C>A (p.Leu1091Ile) n.16301C>A c.16285C>A (p.Leu5429Ile) c.16207C>A (p.Leu5403Ile) c.13591C>A (p.Leu4531Ile) c.16309C>A (p.Leu5437Ile) c.16306C>A (p.Leu5436Ile) c.16228C>A (p.Leu5410Ile) c.16213C>A (p.Leu5405Ile) c.16129C>A (p.Leu5377Ile) c.9427C>A (p.Leu3143Ile) c.9406C>A (p.Leu3136Ile) n.16304C>A | |
5 | g.90823516C= | CA1562918286 | ADGRV1 | c.16288C= (p.Leu5430=) c.5242C= (p.Leu1748=) n.3555C= c.265+147307C= (n.265+147307C=) n.128+1334C= c.2698C= (p.Leu900=) c.3271C= (p.Leu1091=) n.16301C= c.16285C= (p.Leu5429=) c.16207C= (p.Leu5403=) c.13591C= (p.Leu4531=) c.16309C= (p.Leu5437=) c.16306C= (p.Leu5436=) c.16228C= (p.Leu5410=) c.16213C= (p.Leu5405=) c.16129C= (p.Leu5377=) c.9427C= (p.Leu3143=) c.9406C= (p.Leu3136=) n.16304C= | |
5 | g.90823516C>G | CA360425620 | ADGRV1 | c.16288C>G (p.Leu5430Val) c.5242C>G (p.Leu1748Val) n.3555C>G c.265+147307C>G (n.265+147307C>G) n.128+1334C>G c.2698C>G (p.Leu900Val) c.3271C>G (p.Leu1091Val) n.16301C>G c.16285C>G (p.Leu5429Val) c.16207C>G (p.Leu5403Val) c.13591C>G (p.Leu4531Val) c.16309C>G (p.Leu5437Val) c.16306C>G (p.Leu5436Val) c.16228C>G (p.Leu5410Val) c.16213C>G (p.Leu5405Val) c.16129C>G (p.Leu5377Val) c.9427C>G (p.Leu3143Val) c.9406C>G (p.Leu3136Val) n.16304C>G | ClinVar |
5 | g.90823516C>T | CA3342108 | ADGRV1 | c.16288C>T (p.Leu5430Phe) c.5242C>T (p.Leu1748Phe) n.3555C>T c.265+147307C>T (n.265+147307C>T) n.128+1334C>T c.2698C>T (p.Leu900Phe) c.3271C>T (p.Leu1091Phe) n.16301C>T c.16285C>T (p.Leu5429Phe) c.16207C>T (p.Leu5403Phe) c.13591C>T (p.Leu4531Phe) c.16309C>T (p.Leu5437Phe) c.16306C>T (p.Leu5436Phe) c.16228C>T (p.Leu5410Phe) c.16213C>T (p.Leu5405Phe) c.16129C>T (p.Leu5377Phe) c.9427C>T (p.Leu3143Phe) c.9406C>T (p.Leu3136Phe) n.16304C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823517T>A | CA360425621 | ADGRV1 | c.16289T>A (p.Leu5430His) c.5243T>A (p.Leu1748His) n.3556T>A c.265+147308T>A (n.265+147308T>A) n.128+1335T>A c.2699T>A (p.Leu900His) c.3272T>A (p.Leu1091His) n.16302T>A c.16286T>A (p.Leu5429His) c.16208T>A (p.Leu5403His) c.13592T>A (p.Leu4531His) c.16310T>A (p.Leu5437His) c.16307T>A (p.Leu5436His) c.16229T>A (p.Leu5410His) c.16214T>A (p.Leu5405His) c.16130T>A (p.Leu5377His) c.9428T>A (p.Leu3143His) c.9407T>A (p.Leu3136His) n.16305T>A | |
5 | g.90823517T>C | CA360425622 | ADGRV1 | c.16289T>C (p.Leu5430Pro) c.5243T>C (p.Leu1748Pro) n.3556T>C c.265+147308T>C (n.265+147308T>C) n.128+1335T>C c.2699T>C (p.Leu900Pro) c.3272T>C (p.Leu1091Pro) n.16302T>C c.16286T>C (p.Leu5429Pro) c.16208T>C (p.Leu5403Pro) c.13592T>C (p.Leu4531Pro) c.16310T>C (p.Leu5437Pro) c.16307T>C (p.Leu5436Pro) c.16229T>C (p.Leu5410Pro) c.16214T>C (p.Leu5405Pro) c.16130T>C (p.Leu5377Pro) c.9428T>C (p.Leu3143Pro) c.9407T>C (p.Leu3136Pro) n.16305T>C | |
5 | g.90823517T>G | CA360425623 | ADGRV1 | c.16289T>G (p.Leu5430Arg) c.5243T>G (p.Leu1748Arg) n.3556T>G c.265+147308T>G (n.265+147308T>G) n.128+1335T>G c.2699T>G (p.Leu900Arg) c.3272T>G (p.Leu1091Arg) n.16302T>G c.16286T>G (p.Leu5429Arg) c.16208T>G (p.Leu5403Arg) c.13592T>G (p.Leu4531Arg) c.16310T>G (p.Leu5437Arg) c.16307T>G (p.Leu5436Arg) c.16229T>G (p.Leu5410Arg) c.16214T>G (p.Leu5405Arg) c.16130T>G (p.Leu5377Arg) c.9428T>G (p.Leu3143Arg) c.9407T>G (p.Leu3136Arg) n.16305T>G | |
5 | g.90823518T>A | CA445436574 | ADGRV1 | c.16290T>A (p.Leu5430=) c.5244T>A (p.Leu1748=) n.3557T>A c.265+147309T>A (n.265+147309T>A) n.128+1336T>A c.2700T>A (p.Leu900=) c.3273T>A (p.Leu1091=) n.16303T>A c.16287T>A (p.Leu5429=) c.16209T>A (p.Leu5403=) c.13593T>A (p.Leu4531=) c.16311T>A (p.Leu5437=) c.16308T>A (p.Leu5436=) c.16230T>A (p.Leu5410=) c.16215T>A (p.Leu5405=) c.16131T>A (p.Leu5377=) c.9429T>A (p.Leu3143=) c.9408T>A (p.Leu3136=) n.16306T>A | |
5 | g.90823518T>C | CA445436575 | ADGRV1 | c.16290T>C (p.Leu5430=) c.5244T>C (p.Leu1748=) n.3557T>C c.265+147309T>C (n.265+147309T>C) n.128+1336T>C c.2700T>C (p.Leu900=) c.3273T>C (p.Leu1091=) n.16303T>C c.16287T>C (p.Leu5429=) c.16209T>C (p.Leu5403=) c.13593T>C (p.Leu4531=) c.16311T>C (p.Leu5437=) c.16308T>C (p.Leu5436=) c.16230T>C (p.Leu5410=) c.16215T>C (p.Leu5405=) c.16131T>C (p.Leu5377=) c.9429T>C (p.Leu3143=) c.9408T>C (p.Leu3136=) n.16306T>C | |
5 | g.90823518T>G | CA445436576 | ADGRV1 | c.16290T>G (p.Leu5430=) c.5244T>G (p.Leu1748=) n.3557T>G c.265+147309T>G (n.265+147309T>G) n.128+1336T>G c.2700T>G (p.Leu900=) c.3273T>G (p.Leu1091=) n.16303T>G c.16287T>G (p.Leu5429=) c.16209T>G (p.Leu5403=) c.13593T>G (p.Leu4531=) c.16311T>G (p.Leu5437=) c.16308T>G (p.Leu5436=) c.16230T>G (p.Leu5410=) c.16215T>G (p.Leu5405=) c.16131T>G (p.Leu5377=) c.9429T>G (p.Leu3143=) c.9408T>G (p.Leu3136=) n.16306T>G | |
5 | g.90823519C>A | CA360425626 | ADGRV1 | c.16291C>A (p.Gln5431Lys) c.5245C>A (p.Gln1749Lys) n.3558C>A c.265+147310C>A (n.265+147310C>A) n.128+1337C>A c.2701C>A (p.Gln901Lys) c.3274C>A (p.Gln1092Lys) n.16304C>A c.16288C>A (p.Gln5430Lys) c.16210C>A (p.Gln5404Lys) c.13594C>A (p.Gln4532Lys) c.16312C>A (p.Gln5438Lys) c.16309C>A (p.Gln5437Lys) c.16231C>A (p.Gln5411Lys) c.16216C>A (p.Gln5406Lys) c.16132C>A (p.Gln5378Lys) c.9430C>A (p.Gln3144Lys) c.9409C>A (p.Gln3137Lys) n.16307C>A | |
5 | g.90823519C>G | CA360425624 | ADGRV1 | c.16291C>G (p.Gln5431Glu) c.5245C>G (p.Gln1749Glu) n.3558C>G c.265+147310C>G (n.265+147310C>G) n.128+1337C>G c.2701C>G (p.Gln901Glu) c.3274C>G (p.Gln1092Glu) n.16304C>G c.16288C>G (p.Gln5430Glu) c.16210C>G (p.Gln5404Glu) c.13594C>G (p.Gln4532Glu) c.16312C>G (p.Gln5438Glu) c.16309C>G (p.Gln5437Glu) c.16231C>G (p.Gln5411Glu) c.16216C>G (p.Gln5406Glu) c.16132C>G (p.Gln5378Glu) c.9430C>G (p.Gln3144Glu) c.9409C>G (p.Gln3137Glu) n.16307C>G | |
5 | g.90823519C>T | CA360425625 | ADGRV1 | c.16291C>T (p.Gln5431Ter) c.5245C>T (p.Gln1749Ter) n.3558C>T c.265+147310C>T (n.265+147310C>T) n.128+1337C>T c.2701C>T (p.Gln901Ter) c.3274C>T (p.Gln1092Ter) n.16304C>T c.16288C>T (p.Gln5430Ter) c.16210C>T (p.Gln5404Ter) c.13594C>T (p.Gln4532Ter) c.16312C>T (p.Gln5438Ter) c.16309C>T (p.Gln5437Ter) c.16231C>T (p.Gln5411Ter) c.16216C>T (p.Gln5406Ter) c.16132C>T (p.Gln5378Ter) c.9430C>T (p.Gln3144Ter) c.9409C>T (p.Gln3137Ter) n.16307C>T | gnomAD v4 |
5 | g.90823520A>C | CA360425627 | ADGRV1 | c.16292A>C (p.Gln5431Pro) c.5246A>C (p.Gln1749Pro) n.3559A>C c.265+147311A>C (n.265+147311A>C) n.128+1338A>C c.2702A>C (p.Gln901Pro) c.3275A>C (p.Gln1092Pro) n.16305A>C c.16289A>C (p.Gln5430Pro) c.16211A>C (p.Gln5404Pro) c.13595A>C (p.Gln4532Pro) c.16313A>C (p.Gln5438Pro) c.16310A>C (p.Gln5437Pro) c.16232A>C (p.Gln5411Pro) c.16217A>C (p.Gln5406Pro) c.16133A>C (p.Gln5378Pro) c.9431A>C (p.Gln3144Pro) c.9410A>C (p.Gln3137Pro) n.16308A>C | gnomAD v4 |
5 | g.90823520A>G | CA360425628 | ADGRV1 | c.16292A>G (p.Gln5431Arg) c.5246A>G (p.Gln1749Arg) n.3559A>G c.265+147311A>G (n.265+147311A>G) n.128+1338A>G c.2702A>G (p.Gln901Arg) c.3275A>G (p.Gln1092Arg) n.16305A>G c.16289A>G (p.Gln5430Arg) c.16211A>G (p.Gln5404Arg) c.13595A>G (p.Gln4532Arg) c.16313A>G (p.Gln5438Arg) c.16310A>G (p.Gln5437Arg) c.16232A>G (p.Gln5411Arg) c.16217A>G (p.Gln5406Arg) c.16133A>G (p.Gln5378Arg) c.9431A>G (p.Gln3144Arg) c.9410A>G (p.Gln3137Arg) n.16308A>G | |
5 | g.90823520A>T | CA360425629 | ADGRV1 | c.16292A>T (p.Gln5431Leu) c.5246A>T (p.Gln1749Leu) n.3559A>T c.265+147311A>T (n.265+147311A>T) n.128+1338A>T c.2702A>T (p.Gln901Leu) c.3275A>T (p.Gln1092Leu) n.16305A>T c.16289A>T (p.Gln5430Leu) c.16211A>T (p.Gln5404Leu) c.13595A>T (p.Gln4532Leu) c.16313A>T (p.Gln5438Leu) c.16310A>T (p.Gln5437Leu) c.16232A>T (p.Gln5411Leu) c.16217A>T (p.Gln5406Leu) c.16133A>T (p.Gln5378Leu) c.9431A>T (p.Gln3144Leu) c.9410A>T (p.Gln3137Leu) n.16308A>T | |
5 | g.90823521G>A | CA445436577 | ADGRV1 | c.16293G>A (p.Gln5431=) c.5247G>A (p.Gln1749=) n.3560G>A c.265+147312G>A (n.265+147312G>A) n.128+1339G>A c.2703G>A (p.Gln901=) c.3276G>A (p.Gln1092=) n.16306G>A c.16290G>A (p.Gln5430=) c.16212G>A (p.Gln5404=) c.13596G>A (p.Gln4532=) c.16314G>A (p.Gln5438=) c.16311G>A (p.Gln5437=) c.16233G>A (p.Gln5411=) c.16218G>A (p.Gln5406=) c.16134G>A (p.Gln5378=) c.9432G>A (p.Gln3144=) c.9411G>A (p.Gln3137=) n.16309G>A | ClinVar dbSNP gnomAD v4 |
5 | g.90823521G>C | CA360425630 | ADGRV1 | c.16293G>C (p.Gln5431His) c.5247G>C (p.Gln1749His) n.3560G>C c.265+147312G>C (n.265+147312G>C) n.128+1339G>C c.2703G>C (p.Gln901His) c.3276G>C (p.Gln1092His) n.16306G>C c.16290G>C (p.Gln5430His) c.16212G>C (p.Gln5404His) c.13596G>C (p.Gln4532His) c.16314G>C (p.Gln5438His) c.16311G>C (p.Gln5437His) c.16233G>C (p.Gln5411His) c.16218G>C (p.Gln5406His) c.16134G>C (p.Gln5378His) c.9432G>C (p.Gln3144His) c.9411G>C (p.Gln3137His) n.16309G>C | |
5 | g.90823521G= | CA1562918287 | ADGRV1 | c.16293G= (p.Gln5431=) c.5247G= (p.Gln1749=) n.3560G= c.265+147312G= (n.265+147312G=) n.128+1339G= c.2703G= (p.Gln901=) c.3276G= (p.Gln1092=) n.16306G= c.16290G= (p.Gln5430=) c.16212G= (p.Gln5404=) c.13596G= (p.Gln4532=) c.16314G= (p.Gln5438=) c.16311G= (p.Gln5437=) c.16233G= (p.Gln5411=) c.16218G= (p.Gln5406=) c.16134G= (p.Gln5378=) c.9432G= (p.Gln3144=) c.9411G= (p.Gln3137=) n.16309G= | |
5 | g.90823521G>T | CA3342109 | ADGRV1 | c.16293G>T (p.Gln5431His) c.5247G>T (p.Gln1749His) n.3560G>T c.265+147312G>T (n.265+147312G>T) n.128+1339G>T c.2703G>T (p.Gln901His) c.3276G>T (p.Gln1092His) n.16306G>T c.16290G>T (p.Gln5430His) c.16212G>T (p.Gln5404His) c.13596G>T (p.Gln4532His) c.16314G>T (p.Gln5438His) c.16311G>T (p.Gln5437His) c.16233G>T (p.Gln5411His) c.16218G>T (p.Gln5406His) c.16134G>T (p.Gln5378His) c.9432G>T (p.Gln3144His) c.9411G>T (p.Gln3137His) n.16309G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823522T>A | CA360425633 | ADGRV1 | c.16294T>A (p.Ser5432Thr) c.5248T>A (p.Ser1750Thr) n.3561T>A c.265+147313T>A (n.265+147313T>A) n.128+1340T>A c.2704T>A (p.Ser902Thr) c.3277T>A (p.Ser1093Thr) n.16307T>A c.16291T>A (p.Ser5431Thr) c.16213T>A (p.Ser5405Thr) c.13597T>A (p.Ser4533Thr) c.16315T>A (p.Ser5439Thr) c.16312T>A (p.Ser5438Thr) c.16234T>A (p.Ser5412Thr) c.16219T>A (p.Ser5407Thr) c.16135T>A (p.Ser5379Thr) c.9433T>A (p.Ser3145Thr) c.9412T>A (p.Ser3138Thr) n.16310T>A | |
5 | g.90823522T>C | CA360425631 | ADGRV1 | c.16294T>C (p.Ser5432Pro) c.5248T>C (p.Ser1750Pro) n.3561T>C c.265+147313T>C (n.265+147313T>C) n.128+1340T>C c.2704T>C (p.Ser902Pro) c.3277T>C (p.Ser1093Pro) n.16307T>C c.16291T>C (p.Ser5431Pro) c.16213T>C (p.Ser5405Pro) c.13597T>C (p.Ser4533Pro) c.16315T>C (p.Ser5439Pro) c.16312T>C (p.Ser5438Pro) c.16234T>C (p.Ser5412Pro) c.16219T>C (p.Ser5407Pro) c.16135T>C (p.Ser5379Pro) c.9433T>C (p.Ser3145Pro) c.9412T>C (p.Ser3138Pro) n.16310T>C | |
5 | g.90823522T>G | CA360425632 | ADGRV1 | c.16294T>G (p.Ser5432Ala) c.5248T>G (p.Ser1750Ala) n.3561T>G c.265+147313T>G (n.265+147313T>G) n.128+1340T>G c.2704T>G (p.Ser902Ala) c.3277T>G (p.Ser1093Ala) n.16307T>G c.16291T>G (p.Ser5431Ala) c.16213T>G (p.Ser5405Ala) c.13597T>G (p.Ser4533Ala) c.16315T>G (p.Ser5439Ala) c.16312T>G (p.Ser5438Ala) c.16234T>G (p.Ser5412Ala) c.16219T>G (p.Ser5407Ala) c.16135T>G (p.Ser5379Ala) c.9433T>G (p.Ser3145Ala) c.9412T>G (p.Ser3138Ala) n.16310T>G | |
5 | g.90823523C>A | CA360425634 | ADGRV1 | c.16295C>A (p.Ser5432Tyr) c.5249C>A (p.Ser1750Tyr) n.3562C>A c.265+147314C>A (n.265+147314C>A) n.128+1341C>A c.2705C>A (p.Ser902Tyr) c.3278C>A (p.Ser1093Tyr) n.16308C>A c.16292C>A (p.Ser5431Tyr) c.16214C>A (p.Ser5405Tyr) c.13598C>A (p.Ser4533Tyr) c.16316C>A (p.Ser5439Tyr) c.16313C>A (p.Ser5438Tyr) c.16235C>A (p.Ser5412Tyr) c.16220C>A (p.Ser5407Tyr) c.16136C>A (p.Ser5379Tyr) c.9434C>A (p.Ser3145Tyr) c.9413C>A (p.Ser3138Tyr) n.16311C>A | |
5 | g.90823523C= | CA1562918288 | ADGRV1 | c.16295C= (p.Ser5432=) c.5249C= (p.Ser1750=) n.3562C= c.265+147314C= (n.265+147314C=) n.128+1341C= c.2705C= (p.Ser902=) c.3278C= (p.Ser1093=) n.16308C= c.16292C= (p.Ser5431=) c.16214C= (p.Ser5405=) c.13598C= (p.Ser4533=) c.16316C= (p.Ser5439=) c.16313C= (p.Ser5438=) c.16235C= (p.Ser5412=) c.16220C= (p.Ser5407=) c.16136C= (p.Ser5379=) c.9434C= (p.Ser3145=) c.9413C= (p.Ser3138=) n.16311C= | |
5 | g.90823523C>G | CA360425635 | ADGRV1 | c.16295C>G (p.Ser5432Cys) c.5249C>G (p.Ser1750Cys) n.3562C>G c.265+147314C>G (n.265+147314C>G) n.128+1341C>G c.2705C>G (p.Ser902Cys) c.3278C>G (p.Ser1093Cys) n.16308C>G c.16292C>G (p.Ser5431Cys) c.16214C>G (p.Ser5405Cys) c.13598C>G (p.Ser4533Cys) c.16316C>G (p.Ser5439Cys) c.16313C>G (p.Ser5438Cys) c.16235C>G (p.Ser5412Cys) c.16220C>G (p.Ser5407Cys) c.16136C>G (p.Ser5379Cys) c.9434C>G (p.Ser3145Cys) c.9413C>G (p.Ser3138Cys) n.16311C>G | |
5 | g.90823523C>T | CA3342110 | ADGRV1 | c.16295C>T (p.Ser5432Phe) c.5249C>T (p.Ser1750Phe) n.3562C>T c.265+147314C>T (n.265+147314C>T) n.128+1341C>T c.2705C>T (p.Ser902Phe) c.3278C>T (p.Ser1093Phe) n.16308C>T c.16292C>T (p.Ser5431Phe) c.16214C>T (p.Ser5405Phe) c.13598C>T (p.Ser4533Phe) c.16316C>T (p.Ser5439Phe) c.16313C>T (p.Ser5438Phe) c.16235C>T (p.Ser5412Phe) c.16220C>T (p.Ser5407Phe) c.16136C>T (p.Ser5379Phe) c.9434C>T (p.Ser3145Phe) c.9413C>T (p.Ser3138Phe) n.16311C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.90823524T>A | CA445436580 | ADGRV1 | c.16296T>A (p.Ser5432=) c.5250T>A (p.Ser1750=) n.3563T>A c.265+147315T>A (n.265+147315T>A) n.128+1342T>A c.2706T>A (p.Ser902=) c.3279T>A (p.Ser1093=) n.16309T>A c.16293T>A (p.Ser5431=) c.16215T>A (p.Ser5405=) c.13599T>A (p.Ser4533=) c.16317T>A (p.Ser5439=) c.16314T>A (p.Ser5438=) c.16236T>A (p.Ser5412=) c.16221T>A (p.Ser5407=) c.16137T>A (p.Ser5379=) c.9435T>A (p.Ser3145=) c.9414T>A (p.Ser3138=) n.16312T>A | |
5 | g.90823524T>C | CA445436579 | ADGRV1 | c.16296T>C (p.Ser5432=) c.5250T>C (p.Ser1750=) n.3563T>C c.265+147315T>C (n.265+147315T>C) n.128+1342T>C c.2706T>C (p.Ser902=) c.3279T>C (p.Ser1093=) n.16309T>C c.16293T>C (p.Ser5431=) c.16215T>C (p.Ser5405=) c.13599T>C (p.Ser4533=) c.16317T>C (p.Ser5439=) c.16314T>C (p.Ser5438=) c.16236T>C (p.Ser5412=) c.16221T>C (p.Ser5407=) c.16137T>C (p.Ser5379=) c.9435T>C (p.Ser3145=) c.9414T>C (p.Ser3138=) n.16312T>C | |
5 | g.90823524T>G | CA445436578 | ADGRV1 | c.16296T>G (p.Ser5432=) c.5250T>G (p.Ser1750=) n.3563T>G c.265+147315T>G (n.265+147315T>G) n.128+1342T>G c.2706T>G (p.Ser902=) c.3279T>G (p.Ser1093=) n.16309T>G c.16293T>G (p.Ser5431=) c.16215T>G (p.Ser5405=) c.13599T>G (p.Ser4533=) c.16317T>G (p.Ser5439=) c.16314T>G (p.Ser5438=) c.16236T>G (p.Ser5412=) c.16221T>G (p.Ser5407=) c.16137T>G (p.Ser5379=) c.9435T>G (p.Ser3145=) c.9414T>G (p.Ser3138=) n.16312T>G | |
5 | g.90823527_90823528del | CA2674577103 | ADGRV1 | c.16299_16300del (p.Ser5434ArgfsTer17) c.5253_5254del (p.Ser1752ArgfsTer17) n.3566_3567del c.265+147318_265+147319del (n.265+147318_265+147319del) n.128+1345_128+1346del c.2709_2710del (p.Ser904ArgfsTer17) c.3282_3283del (p.Ser1095ArgfsTer17) n.16312_16313del c.16296_16297del (p.Ser5433ArgfsTer17) c.16218_16219del (p.Ser5407ArgfsTer17) c.13602_13603del (p.Ser4535ArgfsTer17) c.16320_16321del (p.Ser5441ArgfsTer17) c.16317_16318del (p.Ser5440ArgfsTer17) c.16239_16240del (p.Ser5414ArgfsTer17) c.16224_16225del (p.Ser5409ArgfsTer17) c.16140_16141del (p.Ser5381ArgfsTer17) c.9438_9439del (p.Ser3147ArgfsTer17) c.9417_9418del (p.Ser3140ArgfsTer17) n.16315_16316del | gnomAD v4 |
5 | g.90823525G>A | CA360425636 | ADGRV1 | c.16297G>A (p.Val5433Met) c.5251G>A (p.Val1751Met) n.3564G>A c.265+147316G>A (n.265+147316G>A) n.128+1343G>A c.2707G>A (p.Val903Met) c.3280G>A (p.Val1094Met) n.16310G>A c.16294G>A (p.Val5432Met) c.16216G>A (p.Val5406Met) c.13600G>A (p.Val4534Met) c.16318G>A (p.Val5440Met) c.16315G>A (p.Val5439Met) c.16237G>A (p.Val5413Met) c.16222G>A (p.Val5408Met) c.16138G>A (p.Val5380Met) c.9436G>A (p.Val3146Met) c.9415G>A (p.Val3139Met) n.16313G>A | |
5 | g.90823525G>C | CA360425637 | ADGRV1 | c.16297G>C (p.Val5433Leu) c.5251G>C (p.Val1751Leu) n.3564G>C c.265+147316G>C (n.265+147316G>C) n.128+1343G>C c.2707G>C (p.Val903Leu) c.3280G>C (p.Val1094Leu) n.16310G>C c.16294G>C (p.Val5432Leu) c.16216G>C (p.Val5406Leu) c.13600G>C (p.Val4534Leu) c.16318G>C (p.Val5440Leu) c.16315G>C (p.Val5439Leu) c.16237G>C (p.Val5413Leu) c.16222G>C (p.Val5408Leu) c.16138G>C (p.Val5380Leu) c.9436G>C (p.Val3146Leu) c.9415G>C (p.Val3139Leu) n.16313G>C | gnomAD v4 |
5 | g.90823525G>T | CA360425638 | ADGRV1 | c.16297G>T (p.Val5433Leu) c.5251G>T (p.Val1751Leu) n.3564G>T c.265+147316G>T (n.265+147316G>T) n.128+1343G>T c.2707G>T (p.Val903Leu) c.3280G>T (p.Val1094Leu) n.16310G>T c.16294G>T (p.Val5432Leu) c.16216G>T (p.Val5406Leu) c.13600G>T (p.Val4534Leu) c.16318G>T (p.Val5440Leu) c.16315G>T (p.Val5439Leu) c.16237G>T (p.Val5413Leu) c.16222G>T (p.Val5408Leu) c.16138G>T (p.Val5380Leu) c.9436G>T (p.Val3146Leu) c.9415G>T (p.Val3139Leu) n.16313G>T | |
5 | g.90823526T>A | CA360425639 | ADGRV1 | c.16298T>A (p.Val5433Glu) c.5252T>A (p.Val1751Glu) n.3565T>A c.265+147317T>A (n.265+147317T>A) n.128+1344T>A c.2708T>A (p.Val903Glu) c.3281T>A (p.Val1094Glu) n.16311T>A c.16295T>A (p.Val5432Glu) c.16217T>A (p.Val5406Glu) c.13601T>A (p.Val4534Glu) c.16319T>A (p.Val5440Glu) c.16316T>A (p.Val5439Glu) c.16238T>A (p.Val5413Glu) c.16223T>A (p.Val5408Glu) c.16139T>A (p.Val5380Glu) c.9437T>A (p.Val3146Glu) c.9416T>A (p.Val3139Glu) n.16314T>A | |
5 | g.90823526T>C | CA360425640 | ADGRV1 | c.16298T>C (p.Val5433Ala) c.5252T>C (p.Val1751Ala) n.3565T>C c.265+147317T>C (n.265+147317T>C) n.128+1344T>C c.2708T>C (p.Val903Ala) c.3281T>C (p.Val1094Ala) n.16311T>C c.16295T>C (p.Val5432Ala) c.16217T>C (p.Val5406Ala) c.13601T>C (p.Val4534Ala) c.16319T>C (p.Val5440Ala) c.16316T>C (p.Val5439Ala) c.16238T>C (p.Val5413Ala) c.16223T>C (p.Val5408Ala) c.16139T>C (p.Val5380Ala) c.9437T>C (p.Val3146Ala) c.9416T>C (p.Val3139Ala) n.16314T>C | |
5 | g.90823526T>G | CA360425641 | ADGRV1 | c.16298T>G (p.Val5433Gly) c.5252T>G (p.Val1751Gly) n.3565T>G c.265+147317T>G (n.265+147317T>G) n.128+1344T>G c.2708T>G (p.Val903Gly) c.3281T>G (p.Val1094Gly) n.16311T>G c.16295T>G (p.Val5432Gly) c.16217T>G (p.Val5406Gly) c.13601T>G (p.Val4534Gly) c.16319T>G (p.Val5440Gly) c.16316T>G (p.Val5439Gly) c.16238T>G (p.Val5413Gly) c.16223T>G (p.Val5408Gly) c.16139T>G (p.Val5380Gly) c.9437T>G (p.Val3146Gly) c.9416T>G (p.Val3139Gly) n.16314T>G | gnomAD v4 |
5 | g.90823527G>A | CA445436581 | ADGRV1 | c.16299G>A (p.Val5433=) c.5253G>A (p.Val1751=) n.3566G>A c.265+147318G>A (n.265+147318G>A) n.128+1345G>A c.2709G>A (p.Val903=) c.3282G>A (p.Val1094=) n.16312G>A c.16296G>A (p.Val5432=) c.16218G>A (p.Val5406=) c.13602G>A (p.Val4534=) c.16320G>A (p.Val5440=) c.16317G>A (p.Val5439=) c.16239G>A (p.Val5413=) c.16224G>A (p.Val5408=) c.16140G>A (p.Val5380=) c.9438G>A (p.Val3146=) c.9417G>A (p.Val3139=) n.16315G>A | dbSNP |
5 | g.90823527G>C | CA445436582 | ADGRV1 | c.16299G>C (p.Val5433=) c.5253G>C (p.Val1751=) n.3566G>C c.265+147318G>C (n.265+147318G>C) n.128+1345G>C c.2709G>C (p.Val903=) c.3282G>C (p.Val1094=) n.16312G>C c.16296G>C (p.Val5432=) c.16218G>C (p.Val5406=) c.13602G>C (p.Val4534=) c.16320G>C (p.Val5440=) c.16317G>C (p.Val5439=) c.16239G>C (p.Val5413=) c.16224G>C (p.Val5408=) c.16140G>C (p.Val5380=) c.9438G>C (p.Val3146=) c.9417G>C (p.Val3139=) n.16315G>C | gnomAD v4 |
5 | g.90823527G= | CA1562918289 | ADGRV1 | c.16299G= (p.Val5433=) c.5253G= (p.Val1751=) n.3566G= c.265+147318G= (n.265+147318G=) n.128+1345G= c.2709G= (p.Val903=) c.3282G= (p.Val1094=) n.16312G= c.16296G= (p.Val5432=) c.16218G= (p.Val5406=) c.13602G= (p.Val4534=) c.16320G= (p.Val5440=) c.16317G= (p.Val5439=) c.16239G= (p.Val5413=) c.16224G= (p.Val5408=) c.16140G= (p.Val5380=) c.9438G= (p.Val3146=) c.9417G= (p.Val3139=) n.16315G= | |
5 | g.90823527G>T | CA445436583 | ADGRV1 | c.16299G>T (p.Val5433=) c.5253G>T (p.Val1751=) n.3566G>T c.265+147318G>T (n.265+147318G>T) n.128+1345G>T c.2709G>T (p.Val903=) c.3282G>T (p.Val1094=) n.16312G>T c.16296G>T (p.Val5432=) c.16218G>T (p.Val5406=) c.13602G>T (p.Val4534=) c.16320G>T (p.Val5440=) c.16317G>T (p.Val5439=) c.16239G>T (p.Val5413=) c.16224G>T (p.Val5408=) c.16140G>T (p.Val5380=) c.9438G>T (p.Val3146=) c.9417G>T (p.Val3139=) n.16315G>T | ClinVar |
5 | g.90823528T>A | CA360425642 | ADGRV1 | c.16300T>A (p.Ser5434Thr) c.5254T>A (p.Ser1752Thr) n.3567T>A c.265+147319T>A (n.265+147319T>A) n.128+1346T>A c.2710T>A (p.Ser904Thr) c.3283T>A (p.Ser1095Thr) n.16313T>A c.16297T>A (p.Ser5433Thr) c.16219T>A (p.Ser5407Thr) c.13603T>A (p.Ser4535Thr) c.16321T>A (p.Ser5441Thr) c.16318T>A (p.Ser5440Thr) c.16240T>A (p.Ser5414Thr) c.16225T>A (p.Ser5409Thr) c.16141T>A (p.Ser5381Thr) c.9439T>A (p.Ser3147Thr) c.9418T>A (p.Ser3140Thr) n.16316T>A | |
5 | g.90823528T>C | CA360425643 | ADGRV1 | c.16300T>C (p.Ser5434Pro) c.5254T>C (p.Ser1752Pro) n.3567T>C c.265+147319T>C (n.265+147319T>C) n.128+1346T>C c.2710T>C (p.Ser904Pro) c.3283T>C (p.Ser1095Pro) n.16313T>C c.16297T>C (p.Ser5433Pro) c.16219T>C (p.Ser5407Pro) c.13603T>C (p.Ser4535Pro) c.16321T>C (p.Ser5441Pro) c.16318T>C (p.Ser5440Pro) c.16240T>C (p.Ser5414Pro) c.16225T>C (p.Ser5409Pro) c.16141T>C (p.Ser5381Pro) c.9439T>C (p.Ser3147Pro) c.9418T>C (p.Ser3140Pro) n.16316T>C | |
5 | g.90823528T>G | CA360425644 | ADGRV1 | c.16300T>G (p.Ser5434Ala) c.5254T>G (p.Ser1752Ala) n.3567T>G c.265+147319T>G (n.265+147319T>G) n.128+1346T>G c.2710T>G (p.Ser904Ala) c.3283T>G (p.Ser1095Ala) n.16313T>G c.16297T>G (p.Ser5433Ala) c.16219T>G (p.Ser5407Ala) c.13603T>G (p.Ser4535Ala) c.16321T>G (p.Ser5441Ala) c.16318T>G (p.Ser5440Ala) c.16240T>G (p.Ser5414Ala) c.16225T>G (p.Ser5409Ala) c.16141T>G (p.Ser5381Ala) c.9439T>G (p.Ser3147Ala) c.9418T>G (p.Ser3140Ala) n.16316T>G | |
5 | g.90823529C>A | CA360425645 | ADGRV1 | c.16301C>A (p.Ser5434Ter) c.5255C>A (p.Ser1752Ter) n.3568C>A c.265+147320C>A (n.265+147320C>A) n.128+1347C>A c.2711C>A (p.Ser904Ter) c.3284C>A (p.Ser1095Ter) n.16314C>A c.16298C>A (p.Ser5433Ter) c.16220C>A (p.Ser5407Ter) c.13604C>A (p.Ser4535Ter) c.16322C>A (p.Ser5441Ter) c.16319C>A (p.Ser5440Ter) c.16241C>A (p.Ser5414Ter) c.16226C>A (p.Ser5409Ter) c.16142C>A (p.Ser5381Ter) c.9440C>A (p.Ser3147Ter) c.9419C>A (p.Ser3140Ter) n.16317C>A | |
5 | g.90823529C>G | CA360425647 | ADGRV1 | c.16301C>G (p.Ser5434Ter) c.5255C>G (p.Ser1752Ter) n.3568C>G c.265+147320C>G (n.265+147320C>G) n.128+1347C>G c.2711C>G (p.Ser904Ter) c.3284C>G (p.Ser1095Ter) n.16314C>G c.16298C>G (p.Ser5433Ter) c.16220C>G (p.Ser5407Ter) c.13604C>G (p.Ser4535Ter) c.16322C>G (p.Ser5441Ter) c.16319C>G (p.Ser5440Ter) c.16241C>G (p.Ser5414Ter) c.16226C>G (p.Ser5409Ter) c.16142C>G (p.Ser5381Ter) c.9440C>G (p.Ser3147Ter) c.9419C>G (p.Ser3140Ter) n.16317C>G | |
5 | g.90823529C>T | CA360425646 | ADGRV1 | c.16301C>T (p.Ser5434Leu) c.5255C>T (p.Ser1752Leu) n.3568C>T c.265+147320C>T (n.265+147320C>T) n.128+1347C>T c.2711C>T (p.Ser904Leu) c.3284C>T (p.Ser1095Leu) n.16314C>T c.16298C>T (p.Ser5433Leu) c.16220C>T (p.Ser5407Leu) c.13604C>T (p.Ser4535Leu) c.16322C>T (p.Ser5441Leu) c.16319C>T (p.Ser5440Leu) c.16241C>T (p.Ser5414Leu) c.16226C>T (p.Ser5409Leu) c.16142C>T (p.Ser5381Leu) c.9440C>T (p.Ser3147Leu) c.9419C>T (p.Ser3140Leu) n.16317C>T | |
5 | g.90823530A= | CA1562918290 | ADGRV1 | c.16302A= (p.Ser5434=) c.5256A= (p.Ser1752=) n.3569A= c.265+147321A= (n.265+147321A=) n.128+1348A= c.2712A= (p.Ser904=) c.3285A= (p.Ser1095=) n.16315A= c.16299A= (p.Ser5433=) c.16221A= (p.Ser5407=) c.13605A= (p.Ser4535=) c.16323A= (p.Ser5441=) c.16320A= (p.Ser5440=) c.16242A= (p.Ser5414=) c.16227A= (p.Ser5409=) c.16143A= (p.Ser5381=) c.9441A= (p.Ser3147=) c.9420A= (p.Ser3140=) n.16318A= | |
5 | g.90823530A>C | CA122804125 | ADGRV1 | c.16302A>C (p.Ser5434=) c.5256A>C (p.Ser1752=) n.3569A>C c.265+147321A>C (n.265+147321A>C) n.128+1348A>C c.2712A>C (p.Ser904=) c.3285A>C (p.Ser1095=) n.16315A>C c.16299A>C (p.Ser5433=) c.16221A>C (p.Ser5407=) c.13605A>C (p.Ser4535=) c.16323A>C (p.Ser5441=) c.16320A>C (p.Ser5440=) c.16242A>C (p.Ser5414=) c.16227A>C (p.Ser5409=) c.16143A>C (p.Ser5381=) c.9441A>C (p.Ser3147=) c.9420A>C (p.Ser3140=) n.16318A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823530A>G | CA445436584 | ADGRV1 | c.16302A>G (p.Ser5434=) c.5256A>G (p.Ser1752=) n.3569A>G c.265+147321A>G (n.265+147321A>G) n.128+1348A>G c.2712A>G (p.Ser904=) c.3285A>G (p.Ser1095=) n.16315A>G c.16299A>G (p.Ser5433=) c.16221A>G (p.Ser5407=) c.13605A>G (p.Ser4535=) c.16323A>G (p.Ser5441=) c.16320A>G (p.Ser5440=) c.16242A>G (p.Ser5414=) c.16227A>G (p.Ser5409=) c.16143A>G (p.Ser5381=) c.9441A>G (p.Ser3147=) c.9420A>G (p.Ser3140=) n.16318A>G | dbSNP gnomAD v4 |
5 | g.90823530A>T | CA445436585 | ADGRV1 | c.16302A>T (p.Ser5434=) c.5256A>T (p.Ser1752=) n.3569A>T c.265+147321A>T (n.265+147321A>T) n.128+1348A>T c.2712A>T (p.Ser904=) c.3285A>T (p.Ser1095=) n.16315A>T c.16299A>T (p.Ser5433=) c.16221A>T (p.Ser5407=) c.13605A>T (p.Ser4535=) c.16323A>T (p.Ser5441=) c.16320A>T (p.Ser5440=) c.16242A>T (p.Ser5414=) c.16227A>T (p.Ser5409=) c.16143A>T (p.Ser5381=) c.9441A>T (p.Ser3147=) c.9420A>T (p.Ser3140=) n.16318A>T | |
5 | g.90823531G>A | CA360425648 | ADGRV1 | c.16303G>A (p.Gly5435Arg) c.5257G>A (p.Gly1753Arg) n.3570G>A c.265+147322G>A (n.265+147322G>A) n.128+1349G>A c.2713G>A (p.Gly905Arg) c.3286G>A (p.Gly1096Arg) n.16316G>A c.16300G>A (p.Gly5434Arg) c.16222G>A (p.Gly5408Arg) c.13606G>A (p.Gly4536Arg) c.16324G>A (p.Gly5442Arg) c.16321G>A (p.Gly5441Arg) c.16243G>A (p.Gly5415Arg) c.16228G>A (p.Gly5410Arg) c.16144G>A (p.Gly5382Arg) c.9442G>A (p.Gly3148Arg) c.9421G>A (p.Gly3141Arg) n.16319G>A | |
5 | g.90823531G>C | CA360425649 | ADGRV1 | c.16303G>C (p.Gly5435Arg) c.5257G>C (p.Gly1753Arg) n.3570G>C c.265+147322G>C (n.265+147322G>C) n.128+1349G>C c.2713G>C (p.Gly905Arg) c.3286G>C (p.Gly1096Arg) n.16316G>C c.16300G>C (p.Gly5434Arg) c.16222G>C (p.Gly5408Arg) c.13606G>C (p.Gly4536Arg) c.16324G>C (p.Gly5442Arg) c.16321G>C (p.Gly5441Arg) c.16243G>C (p.Gly5415Arg) c.16228G>C (p.Gly5410Arg) c.16144G>C (p.Gly5382Arg) c.9442G>C (p.Gly3148Arg) c.9421G>C (p.Gly3141Arg) n.16319G>C | gnomAD v4 COSMIC |
5 | g.90823531G>T | CA360425650 | ADGRV1 | c.16303G>T (p.Gly5435Trp) c.5257G>T (p.Gly1753Trp) n.3570G>T c.265+147322G>T (n.265+147322G>T) n.128+1349G>T c.2713G>T (p.Gly905Trp) c.3286G>T (p.Gly1096Trp) n.16316G>T c.16300G>T (p.Gly5434Trp) c.16222G>T (p.Gly5408Trp) c.13606G>T (p.Gly4536Trp) c.16324G>T (p.Gly5442Trp) c.16321G>T (p.Gly5441Trp) c.16243G>T (p.Gly5415Trp) c.16228G>T (p.Gly5410Trp) c.16144G>T (p.Gly5382Trp) c.9442G>T (p.Gly3148Trp) c.9421G>T (p.Gly3141Trp) n.16319G>T | |
5 | g.90823532G>A | CA360425651 | ADGRV1 | c.16304G>A (p.Gly5435Glu) c.5258G>A (p.Gly1753Glu) n.3571G>A c.265+147323G>A (n.265+147323G>A) n.128+1350G>A c.2714G>A (p.Gly905Glu) c.3287G>A (p.Gly1096Glu) n.16317G>A c.16301G>A (p.Gly5434Glu) c.16223G>A (p.Gly5408Glu) c.13607G>A (p.Gly4536Glu) c.16325G>A (p.Gly5442Glu) c.16322G>A (p.Gly5441Glu) c.16244G>A (p.Gly5415Glu) c.16229G>A (p.Gly5410Glu) c.16145G>A (p.Gly5382Glu) c.9443G>A (p.Gly3148Glu) c.9422G>A (p.Gly3141Glu) n.16320G>A | gnomAD v4 |
5 | g.90823532G>C | CA360425652 | ADGRV1 | c.16304G>C (p.Gly5435Ala) c.5258G>C (p.Gly1753Ala) n.3571G>C c.265+147323G>C (n.265+147323G>C) n.128+1350G>C c.2714G>C (p.Gly905Ala) c.3287G>C (p.Gly1096Ala) n.16317G>C c.16301G>C (p.Gly5434Ala) c.16223G>C (p.Gly5408Ala) c.13607G>C (p.Gly4536Ala) c.16325G>C (p.Gly5442Ala) c.16322G>C (p.Gly5441Ala) c.16244G>C (p.Gly5415Ala) c.16229G>C (p.Gly5410Ala) c.16145G>C (p.Gly5382Ala) c.9443G>C (p.Gly3148Ala) c.9422G>C (p.Gly3141Ala) n.16320G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.90823532G= | CA1562918291 | ADGRV1 | c.16304G= (p.Gly5435=) c.5258G= (p.Gly1753=) n.3571G= c.265+147323G= (n.265+147323G=) n.128+1350G= c.2714G= (p.Gly905=) c.3287G= (p.Gly1096=) n.16317G= c.16301G= (p.Gly5434=) c.16223G= (p.Gly5408=) c.13607G= (p.Gly4536=) c.16325G= (p.Gly5442=) c.16322G= (p.Gly5441=) c.16244G= (p.Gly5415=) c.16229G= (p.Gly5410=) c.16145G= (p.Gly5382=) c.9443G= (p.Gly3148=) c.9422G= (p.Gly3141=) n.16320G= | |
5 | g.90823532G>T | CA360425653 | ADGRV1 | c.16304G>T (p.Gly5435Val) c.5258G>T (p.Gly1753Val) n.3571G>T c.265+147323G>T (n.265+147323G>T) n.128+1350G>T c.2714G>T (p.Gly905Val) c.3287G>T (p.Gly1096Val) n.16317G>T c.16301G>T (p.Gly5434Val) c.16223G>T (p.Gly5408Val) c.13607G>T (p.Gly4536Val) c.16325G>T (p.Gly5442Val) c.16322G>T (p.Gly5441Val) c.16244G>T (p.Gly5415Val) c.16229G>T (p.Gly5410Val) c.16145G>T (p.Gly5382Val) c.9443G>T (p.Gly3148Val) c.9422G>T (p.Gly3141Val) n.16320G>T | |
5 | g.90823533G>A | CA122804127 | ADGRV1 | c.16305G>A (p.Gly5435=) c.5259G>A (p.Gly1753=) n.3572G>A c.265+147324G>A (n.265+147324G>A) n.128+1351G>A c.2715G>A (p.Gly905=) c.3288G>A (p.Gly1096=) n.16318G>A c.16302G>A (p.Gly5434=) c.16224G>A (p.Gly5408=) c.13608G>A (p.Gly4536=) c.16326G>A (p.Gly5442=) c.16323G>A (p.Gly5441=) c.16245G>A (p.Gly5415=) c.16230G>A (p.Gly5410=) c.16146G>A (p.Gly5382=) c.9444G>A (p.Gly3148=) c.9423G>A (p.Gly3141=) n.16321G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823533G>C | CA445436586 | ADGRV1 | c.16305G>C (p.Gly5435=) c.5259G>C (p.Gly1753=) n.3572G>C c.265+147324G>C (n.265+147324G>C) n.128+1351G>C c.2715G>C (p.Gly905=) c.3288G>C (p.Gly1096=) n.16318G>C c.16302G>C (p.Gly5434=) c.16224G>C (p.Gly5408=) c.13608G>C (p.Gly4536=) c.16326G>C (p.Gly5442=) c.16323G>C (p.Gly5441=) c.16245G>C (p.Gly5415=) c.16230G>C (p.Gly5410=) c.16146G>C (p.Gly5382=) c.9444G>C (p.Gly3148=) c.9423G>C (p.Gly3141=) n.16321G>C | ClinVar dbSNP gnomAD v4 |
5 | g.90823533G= | CA1562918292 | ADGRV1 | c.16305G= (p.Gly5435=) c.5259G= (p.Gly1753=) n.3572G= c.265+147324G= (n.265+147324G=) n.128+1351G= c.2715G= (p.Gly905=) c.3288G= (p.Gly1096=) n.16318G= c.16302G= (p.Gly5434=) c.16224G= (p.Gly5408=) c.13608G= (p.Gly4536=) c.16326G= (p.Gly5442=) c.16323G= (p.Gly5441=) c.16245G= (p.Gly5415=) c.16230G= (p.Gly5410=) c.16146G= (p.Gly5382=) c.9444G= (p.Gly3148=) c.9423G= (p.Gly3141=) n.16321G= | |
5 | g.90823533G>T | CA445436587 | ADGRV1 | c.16305G>T (p.Gly5435=) c.5259G>T (p.Gly1753=) n.3572G>T c.265+147324G>T (n.265+147324G>T) n.128+1351G>T c.2715G>T (p.Gly905=) c.3288G>T (p.Gly1096=) n.16318G>T c.16302G>T (p.Gly5434=) c.16224G>T (p.Gly5408=) c.13608G>T (p.Gly4536=) c.16326G>T (p.Gly5442=) c.16323G>T (p.Gly5441=) c.16245G>T (p.Gly5415=) c.16230G>T (p.Gly5410=) c.16146G>T (p.Gly5382=) c.9444G>T (p.Gly3148=) c.9423G>T (p.Gly3141=) n.16321G>T | gnomAD v4 |
5 | g.90823534A>C | CA360425656 | ADGRV1 | c.16306A>C (p.Thr5436Pro) c.5260A>C (p.Thr1754Pro) n.3573A>C c.265+147325A>C (n.265+147325A>C) n.128+1352A>C c.2716A>C (p.Thr906Pro) c.3289A>C (p.Thr1097Pro) n.16319A>C c.16303A>C (p.Thr5435Pro) c.16225A>C (p.Thr5409Pro) c.13609A>C (p.Thr4537Pro) c.16327A>C (p.Thr5443Pro) c.16324A>C (p.Thr5442Pro) c.16246A>C (p.Thr5416Pro) c.16231A>C (p.Thr5411Pro) c.16147A>C (p.Thr5383Pro) c.9445A>C (p.Thr3149Pro) c.9424A>C (p.Thr3142Pro) n.16322A>C | |
5 | g.90823534A>G | CA360425654 | ADGRV1 | c.16306A>G (p.Thr5436Ala) c.5260A>G (p.Thr1754Ala) n.3573A>G c.265+147325A>G (n.265+147325A>G) n.128+1352A>G c.2716A>G (p.Thr906Ala) c.3289A>G (p.Thr1097Ala) n.16319A>G c.16303A>G (p.Thr5435Ala) c.16225A>G (p.Thr5409Ala) c.13609A>G (p.Thr4537Ala) c.16327A>G (p.Thr5443Ala) c.16324A>G (p.Thr5442Ala) c.16246A>G (p.Thr5416Ala) c.16231A>G (p.Thr5411Ala) c.16147A>G (p.Thr5383Ala) c.9445A>G (p.Thr3149Ala) c.9424A>G (p.Thr3142Ala) n.16322A>G | |
5 | g.90823534A>T | CA360425655 | ADGRV1 | c.16306A>T (p.Thr5436Ser) c.5260A>T (p.Thr1754Ser) n.3573A>T c.265+147325A>T (n.265+147325A>T) n.128+1352A>T c.2716A>T (p.Thr906Ser) c.3289A>T (p.Thr1097Ser) n.16319A>T c.16303A>T (p.Thr5435Ser) c.16225A>T (p.Thr5409Ser) c.13609A>T (p.Thr4537Ser) c.16327A>T (p.Thr5443Ser) c.16324A>T (p.Thr5442Ser) c.16246A>T (p.Thr5416Ser) c.16231A>T (p.Thr5411Ser) c.16147A>T (p.Thr5383Ser) c.9445A>T (p.Thr3149Ser) c.9424A>T (p.Thr3142Ser) n.16322A>T | |
5 | g.90823535C>A | CA360425657 | ADGRV1 | c.16307C>A (p.Thr5436Asn) c.5261C>A (p.Thr1754Asn) n.3574C>A c.265+147326C>A (n.265+147326C>A) n.128+1353C>A c.2717C>A (p.Thr906Asn) c.3290C>A (p.Thr1097Asn) n.16320C>A c.16304C>A (p.Thr5435Asn) c.16226C>A (p.Thr5409Asn) c.13610C>A (p.Thr4537Asn) c.16328C>A (p.Thr5443Asn) c.16325C>A (p.Thr5442Asn) c.16247C>A (p.Thr5416Asn) c.16232C>A (p.Thr5411Asn) c.16148C>A (p.Thr5383Asn) c.9446C>A (p.Thr3149Asn) c.9425C>A (p.Thr3142Asn) n.16323C>A | |
5 | g.90823535C>G | CA360425658 | ADGRV1 | c.16307C>G (p.Thr5436Ser) c.5261C>G (p.Thr1754Ser) n.3574C>G c.265+147326C>G (n.265+147326C>G) n.128+1353C>G c.2717C>G (p.Thr906Ser) c.3290C>G (p.Thr1097Ser) n.16320C>G c.16304C>G (p.Thr5435Ser) c.16226C>G (p.Thr5409Ser) c.13610C>G (p.Thr4537Ser) c.16328C>G (p.Thr5443Ser) c.16325C>G (p.Thr5442Ser) c.16247C>G (p.Thr5416Ser) c.16232C>G (p.Thr5411Ser) c.16148C>G (p.Thr5383Ser) c.9446C>G (p.Thr3149Ser) c.9425C>G (p.Thr3142Ser) n.16323C>G | |
5 | g.90823535C>T | CA360425659 | ADGRV1 | c.16307C>T (p.Thr5436Ile) c.5261C>T (p.Thr1754Ile) n.3574C>T c.265+147326C>T (n.265+147326C>T) n.128+1353C>T c.2717C>T (p.Thr906Ile) c.3290C>T (p.Thr1097Ile) n.16320C>T c.16304C>T (p.Thr5435Ile) c.16226C>T (p.Thr5409Ile) c.13610C>T (p.Thr4537Ile) c.16328C>T (p.Thr5443Ile) c.16325C>T (p.Thr5442Ile) c.16247C>T (p.Thr5416Ile) c.16232C>T (p.Thr5411Ile) c.16148C>T (p.Thr5383Ile) c.9446C>T (p.Thr3149Ile) c.9425C>T (p.Thr3142Ile) n.16323C>T | gnomAD v4 |
5 | g.90823536C>A | CA228945 | ADGRV1 | c.16308C>A (p.Thr5436=) c.5262C>A (p.Thr1754=) n.3575C>A c.265+147327C>A (n.265+147327C>A) n.128+1354C>A c.2718C>A (p.Thr906=) c.3291C>A (p.Thr1097=) n.16321C>A c.16305C>A (p.Thr5435=) c.16227C>A (p.Thr5409=) c.13611C>A (p.Thr4537=) c.16329C>A (p.Thr5443=) c.16326C>A (p.Thr5442=) c.16248C>A (p.Thr5416=) c.16233C>A (p.Thr5411=) c.16149C>A (p.Thr5383=) c.9447C>A (p.Thr3149=) c.9426C>A (p.Thr3142=) n.16324C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823536C= | CA1562918293 | ADGRV1 | c.16308C= (p.Thr5436=) c.5262C= (p.Thr1754=) n.3575C= c.265+147327C= (n.265+147327C=) n.128+1354C= c.2718C= (p.Thr906=) c.3291C= (p.Thr1097=) n.16321C= c.16305C= (p.Thr5435=) c.16227C= (p.Thr5409=) c.13611C= (p.Thr4537=) c.16329C= (p.Thr5443=) c.16326C= (p.Thr5442=) c.16248C= (p.Thr5416=) c.16233C= (p.Thr5411=) c.16149C= (p.Thr5383=) c.9447C= (p.Thr3149=) c.9426C= (p.Thr3142=) n.16324C= | |
5 | g.90823536C>G | CA445436588 | ADGRV1 | c.16308C>G (p.Thr5436=) c.5262C>G (p.Thr1754=) n.3575C>G c.265+147327C>G (n.265+147327C>G) n.128+1354C>G c.2718C>G (p.Thr906=) c.3291C>G (p.Thr1097=) n.16321C>G c.16305C>G (p.Thr5435=) c.16227C>G (p.Thr5409=) c.13611C>G (p.Thr4537=) c.16329C>G (p.Thr5443=) c.16326C>G (p.Thr5442=) c.16248C>G (p.Thr5416=) c.16233C>G (p.Thr5411=) c.16149C>G (p.Thr5383=) c.9447C>G (p.Thr3149=) c.9426C>G (p.Thr3142=) n.16324C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823536C>T | CA3342111 | ADGRV1 | c.16308C>T (p.Thr5436=) c.5262C>T (p.Thr1754=) n.3575C>T c.265+147327C>T (n.265+147327C>T) n.128+1354C>T c.2718C>T (p.Thr906=) c.3291C>T (p.Thr1097=) n.16321C>T c.16305C>T (p.Thr5435=) c.16227C>T (p.Thr5409=) c.13611C>T (p.Thr4537=) c.16329C>T (p.Thr5443=) c.16326C>T (p.Thr5442=) c.16248C>T (p.Thr5416=) c.16233C>T (p.Thr5411=) c.16149C>T (p.Thr5383=) c.9447C>T (p.Thr3149=) c.9426C>T (p.Thr3142=) n.16324C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823537A= | CA1562918294 | ADGRV1 | c.16309A= (p.Thr5437=) c.5263A= (p.Thr1755=) n.3576A= c.265+147328A= (n.265+147328A=) n.128+1355A= c.2719A= (p.Thr907=) c.3292A= (p.Thr1098=) n.16322A= c.16306A= (p.Thr5436=) c.16228A= (p.Thr5410=) c.13612A= (p.Thr4538=) c.16330A= (p.Thr5444=) c.16327A= (p.Thr5443=) c.16249A= (p.Thr5417=) c.16234A= (p.Thr5412=) c.16150A= (p.Thr5384=) c.9448A= (p.Thr3150=) c.9427A= (p.Thr3143=) n.16325A= | |
5 | g.90823537A>C | CA360425661 | ADGRV1 | c.16309A>C (p.Thr5437Pro) c.5263A>C (p.Thr1755Pro) n.3576A>C c.265+147328A>C (n.265+147328A>C) n.128+1355A>C c.2719A>C (p.Thr907Pro) c.3292A>C (p.Thr1098Pro) n.16322A>C c.16306A>C (p.Thr5436Pro) c.16228A>C (p.Thr5410Pro) c.13612A>C (p.Thr4538Pro) c.16330A>C (p.Thr5444Pro) c.16327A>C (p.Thr5443Pro) c.16249A>C (p.Thr5417Pro) c.16234A>C (p.Thr5412Pro) c.16150A>C (p.Thr5384Pro) c.9448A>C (p.Thr3150Pro) c.9427A>C (p.Thr3143Pro) n.16325A>C | |
5 | g.90823537A>G | CA3342112 | ADGRV1 | c.16309A>G (p.Thr5437Ala) c.5263A>G (p.Thr1755Ala) n.3576A>G c.265+147328A>G (n.265+147328A>G) n.128+1355A>G c.2719A>G (p.Thr907Ala) c.3292A>G (p.Thr1098Ala) n.16322A>G c.16306A>G (p.Thr5436Ala) c.16228A>G (p.Thr5410Ala) c.13612A>G (p.Thr4538Ala) c.16330A>G (p.Thr5444Ala) c.16327A>G (p.Thr5443Ala) c.16249A>G (p.Thr5417Ala) c.16234A>G (p.Thr5412Ala) c.16150A>G (p.Thr5384Ala) c.9448A>G (p.Thr3150Ala) c.9427A>G (p.Thr3143Ala) n.16325A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823537A>T | CA360425660 | ADGRV1 | c.16309A>T (p.Thr5437Ser) c.5263A>T (p.Thr1755Ser) n.3576A>T c.265+147328A>T (n.265+147328A>T) n.128+1355A>T c.2719A>T (p.Thr907Ser) c.3292A>T (p.Thr1098Ser) n.16322A>T c.16306A>T (p.Thr5436Ser) c.16228A>T (p.Thr5410Ser) c.13612A>T (p.Thr4538Ser) c.16330A>T (p.Thr5444Ser) c.16327A>T (p.Thr5443Ser) c.16249A>T (p.Thr5417Ser) c.16234A>T (p.Thr5412Ser) c.16150A>T (p.Thr5384Ser) c.9448A>T (p.Thr3150Ser) c.9427A>T (p.Thr3143Ser) n.16325A>T | |
5 | g.90823538del | CA2573140034 | ADGRV1 | c.16310del (p.Thr5437LysfsTer?) c.5264del (p.Thr1755LysfsTer?) n.3577del c.265+147329del (n.265+147329del) n.128+1356del c.2720del (p.Thr907LysfsTer?) c.3293del (p.Thr1098LysfsTer?) n.16323del c.16307del (p.Thr5436LysfsTer?) c.16229del (p.Thr5410LysfsTer?) c.13613del (p.Thr4538LysfsTer?) c.16331del (p.Thr5444LysfsTer?) c.16328del (p.Thr5443LysfsTer?) c.16250del (p.Thr5417LysfsTer?) c.16235del (p.Thr5412LysfsTer?) c.16151del (p.Thr5384LysfsTer?) c.9449del (p.Thr3150LysfsTer?) c.9428del (p.Thr3143LysfsTer?) n.16326del | ClinVar dbSNP |
5 | g.90823538C>A | CA360425662 | ADGRV1 | c.16310C>A (p.Thr5437Lys) c.5264C>A (p.Thr1755Lys) n.3577C>A c.265+147329C>A (n.265+147329C>A) n.128+1356C>A c.2720C>A (p.Thr907Lys) c.3293C>A (p.Thr1098Lys) n.16323C>A c.16307C>A (p.Thr5436Lys) c.16229C>A (p.Thr5410Lys) c.13613C>A (p.Thr4538Lys) c.16331C>A (p.Thr5444Lys) c.16328C>A (p.Thr5443Lys) c.16250C>A (p.Thr5417Lys) c.16235C>A (p.Thr5412Lys) c.16151C>A (p.Thr5384Lys) c.9449C>A (p.Thr3150Lys) c.9428C>A (p.Thr3143Lys) n.16326C>A | |
5 | g.90823538C>G | CA360425663 | ADGRV1 | c.16310C>G (p.Thr5437Arg) c.5264C>G (p.Thr1755Arg) n.3577C>G c.265+147329C>G (n.265+147329C>G) n.128+1356C>G c.2720C>G (p.Thr907Arg) c.3293C>G (p.Thr1098Arg) n.16323C>G c.16307C>G (p.Thr5436Arg) c.16229C>G (p.Thr5410Arg) c.13613C>G (p.Thr4538Arg) c.16331C>G (p.Thr5444Arg) c.16328C>G (p.Thr5443Arg) c.16250C>G (p.Thr5417Arg) c.16235C>G (p.Thr5412Arg) c.16151C>G (p.Thr5384Arg) c.9449C>G (p.Thr3150Arg) c.9428C>G (p.Thr3143Arg) n.16326C>G | |
5 | g.90823538C>T | CA360425664 | ADGRV1 | c.16310C>T (p.Thr5437Ile) c.5264C>T (p.Thr1755Ile) n.3577C>T c.265+147329C>T (n.265+147329C>T) n.128+1356C>T c.2720C>T (p.Thr907Ile) c.3293C>T (p.Thr1098Ile) n.16323C>T c.16307C>T (p.Thr5436Ile) c.16229C>T (p.Thr5410Ile) c.13613C>T (p.Thr4538Ile) c.16331C>T (p.Thr5444Ile) c.16328C>T (p.Thr5443Ile) c.16250C>T (p.Thr5417Ile) c.16235C>T (p.Thr5412Ile) c.16151C>T (p.Thr5384Ile) c.9449C>T (p.Thr3150Ile) c.9428C>T (p.Thr3143Ile) n.16326C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823539A>C | CA445436589 | ADGRV1 | c.16311A>C (p.Thr5437=) c.5265A>C (p.Thr1755=) n.3578A>C c.265+147330A>C (n.265+147330A>C) n.128+1357A>C c.2721A>C (p.Thr907=) c.3294A>C (p.Thr1098=) n.16324A>C c.16308A>C (p.Thr5436=) c.16230A>C (p.Thr5410=) c.13614A>C (p.Thr4538=) c.16332A>C (p.Thr5444=) c.16329A>C (p.Thr5443=) c.16251A>C (p.Thr5417=) c.16236A>C (p.Thr5412=) c.16152A>C (p.Thr5384=) c.9450A>C (p.Thr3150=) c.9429A>C (p.Thr3143=) n.16327A>C | ClinVar |
5 | g.90823539A>G | CA445436590 | ADGRV1 | c.16311A>G (p.Thr5437=) c.5265A>G (p.Thr1755=) n.3578A>G c.265+147330A>G (n.265+147330A>G) n.128+1357A>G c.2721A>G (p.Thr907=) c.3294A>G (p.Thr1098=) n.16324A>G c.16308A>G (p.Thr5436=) c.16230A>G (p.Thr5410=) c.13614A>G (p.Thr4538=) c.16332A>G (p.Thr5444=) c.16329A>G (p.Thr5443=) c.16251A>G (p.Thr5417=) c.16236A>G (p.Thr5412=) c.16152A>G (p.Thr5384=) c.9450A>G (p.Thr3150=) c.9429A>G (p.Thr3143=) n.16327A>G | |
5 | g.90823539A>T | CA445436591 | ADGRV1 | c.16311A>T (p.Thr5437=) c.5265A>T (p.Thr1755=) n.3578A>T c.265+147330A>T (n.265+147330A>T) n.128+1357A>T c.2721A>T (p.Thr907=) c.3294A>T (p.Thr1098=) n.16324A>T c.16308A>T (p.Thr5436=) c.16230A>T (p.Thr5410=) c.13614A>T (p.Thr4538=) c.16332A>T (p.Thr5444=) c.16329A>T (p.Thr5443=) c.16251A>T (p.Thr5417=) c.16236A>T (p.Thr5412=) c.16152A>T (p.Thr5384=) c.9450A>T (p.Thr3150=) c.9429A>T (p.Thr3143=) n.16327A>T | |
5 | g.90823540A= | CA1562918295 | ADGRV1 | c.16312A= (p.Thr5438=) c.5266A= (p.Thr1756=) n.3579A= c.265+147331A= (n.265+147331A=) n.128+1358A= c.2722A= (p.Thr908=) c.3295A= (p.Thr1099=) n.16325A= c.16309A= (p.Thr5437=) c.16231A= (p.Thr5411=) c.13615A= (p.Thr4539=) c.16333A= (p.Thr5445=) c.16330A= (p.Thr5444=) c.16252A= (p.Thr5418=) c.16237A= (p.Thr5413=) c.16153A= (p.Thr5385=) c.9451A= (p.Thr3151=) c.9430A= (p.Thr3144=) n.16328A= | |
5 | g.90823540A>C | CA360425665 | ADGRV1 | c.16312A>C (p.Thr5438Pro) c.5266A>C (p.Thr1756Pro) n.3579A>C c.265+147331A>C (n.265+147331A>C) n.128+1358A>C c.2722A>C (p.Thr908Pro) c.3295A>C (p.Thr1099Pro) n.16325A>C c.16309A>C (p.Thr5437Pro) c.16231A>C (p.Thr5411Pro) c.13615A>C (p.Thr4539Pro) c.16333A>C (p.Thr5445Pro) c.16330A>C (p.Thr5444Pro) c.16252A>C (p.Thr5418Pro) c.16237A>C (p.Thr5413Pro) c.16153A>C (p.Thr5385Pro) c.9451A>C (p.Thr3151Pro) c.9430A>C (p.Thr3144Pro) n.16328A>C | |
5 | g.90823540A>G | CA182202 | ADGRV1 | c.16312A>G (p.Thr5438Ala) c.5266A>G (p.Thr1756Ala) n.3579A>G c.265+147331A>G (n.265+147331A>G) n.128+1358A>G c.2722A>G (p.Thr908Ala) c.3295A>G (p.Thr1099Ala) n.16325A>G c.16309A>G (p.Thr5437Ala) c.16231A>G (p.Thr5411Ala) c.13615A>G (p.Thr4539Ala) c.16333A>G (p.Thr5445Ala) c.16330A>G (p.Thr5444Ala) c.16252A>G (p.Thr5418Ala) c.16237A>G (p.Thr5413Ala) c.16153A>G (p.Thr5385Ala) c.9451A>G (p.Thr3151Ala) c.9430A>G (p.Thr3144Ala) n.16328A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823540A>T | CA360425666 | ADGRV1 | c.16312A>T (p.Thr5438Ser) c.5266A>T (p.Thr1756Ser) n.3579A>T c.265+147331A>T (n.265+147331A>T) n.128+1358A>T c.2722A>T (p.Thr908Ser) c.3295A>T (p.Thr1099Ser) n.16325A>T c.16309A>T (p.Thr5437Ser) c.16231A>T (p.Thr5411Ser) c.13615A>T (p.Thr4539Ser) c.16333A>T (p.Thr5445Ser) c.16330A>T (p.Thr5444Ser) c.16252A>T (p.Thr5418Ser) c.16237A>T (p.Thr5413Ser) c.16153A>T (p.Thr5385Ser) c.9451A>T (p.Thr3151Ser) c.9430A>T (p.Thr3144Ser) n.16328A>T | |
5 | g.90823541C>A | CA360425667 | ADGRV1 | c.16313C>A (p.Thr5438Asn) c.5267C>A (p.Thr1756Asn) n.3580C>A c.265+147332C>A (n.265+147332C>A) n.128+1359C>A c.2723C>A (p.Thr908Asn) c.3296C>A (p.Thr1099Asn) n.16326C>A c.16310C>A (p.Thr5437Asn) c.16232C>A (p.Thr5411Asn) c.13616C>A (p.Thr4539Asn) c.16334C>A (p.Thr5445Asn) c.16331C>A (p.Thr5444Asn) c.16253C>A (p.Thr5418Asn) c.16238C>A (p.Thr5413Asn) c.16154C>A (p.Thr5385Asn) c.9452C>A (p.Thr3151Asn) c.9431C>A (p.Thr3144Asn) n.16329C>A | |
5 | g.90823541C= | CA1562918296 | ADGRV1 | c.16313C= (p.Thr5438=) c.5267C= (p.Thr1756=) n.3580C= c.265+147332C= (n.265+147332C=) n.128+1359C= c.2723C= (p.Thr908=) c.3296C= (p.Thr1099=) n.16326C= c.16310C= (p.Thr5437=) c.16232C= (p.Thr5411=) c.13616C= (p.Thr4539=) c.16334C= (p.Thr5445=) c.16331C= (p.Thr5444=) c.16253C= (p.Thr5418=) c.16238C= (p.Thr5413=) c.16154C= (p.Thr5385=) c.9452C= (p.Thr3151=) c.9431C= (p.Thr3144=) n.16329C= | |
5 | g.90823541C>G | CA3342114 | ADGRV1 | c.16313C>G (p.Thr5438Ser) c.5267C>G (p.Thr1756Ser) n.3580C>G c.265+147332C>G (n.265+147332C>G) n.128+1359C>G c.2723C>G (p.Thr908Ser) c.3296C>G (p.Thr1099Ser) n.16326C>G c.16310C>G (p.Thr5437Ser) c.16232C>G (p.Thr5411Ser) c.13616C>G (p.Thr4539Ser) c.16334C>G (p.Thr5445Ser) c.16331C>G (p.Thr5444Ser) c.16253C>G (p.Thr5418Ser) c.16238C>G (p.Thr5413Ser) c.16154C>G (p.Thr5385Ser) c.9452C>G (p.Thr3151Ser) c.9431C>G (p.Thr3144Ser) n.16329C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.90823541C>T | CA3342113 | ADGRV1 | c.16313C>T (p.Thr5438Ile) c.5267C>T (p.Thr1756Ile) n.3580C>T c.265+147332C>T (n.265+147332C>T) n.128+1359C>T c.2723C>T (p.Thr908Ile) c.3296C>T (p.Thr1099Ile) n.16326C>T c.16310C>T (p.Thr5437Ile) c.16232C>T (p.Thr5411Ile) c.13616C>T (p.Thr4539Ile) c.16334C>T (p.Thr5445Ile) c.16331C>T (p.Thr5444Ile) c.16253C>T (p.Thr5418Ile) c.16238C>T (p.Thr5413Ile) c.16154C>T (p.Thr5385Ile) c.9452C>T (p.Thr3151Ile) c.9431C>T (p.Thr3144Ile) n.16329C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.90823542C>A | CA445436592 | ADGRV1 | c.16314C>A (p.Thr5438=) c.5268C>A (p.Thr1756=) n.3581C>A c.265+147333C>A (n.265+147333C>A) n.128+1360C>A c.2724C>A (p.Thr908=) c.3297C>A (p.Thr1099=) n.16327C>A c.16311C>A (p.Thr5437=) c.16233C>A (p.Thr5411=) c.13617C>A (p.Thr4539=) c.16335C>A (p.Thr5445=) c.16332C>A (p.Thr5444=) c.16254C>A (p.Thr5418=) c.16239C>A (p.Thr5413=) c.16155C>A (p.Thr5385=) c.9453C>A (p.Thr3151=) c.9432C>A (p.Thr3144=) n.16330C>A | |
5 | g.90823542C>G | CA445436593 | ADGRV1 | c.16314C>G (p.Thr5438=) c.5268C>G (p.Thr1756=) n.3581C>G c.265+147333C>G (n.265+147333C>G) n.128+1360C>G c.2724C>G (p.Thr908=) c.3297C>G (p.Thr1099=) n.16327C>G c.16311C>G (p.Thr5437=) c.16233C>G (p.Thr5411=) c.13617C>G (p.Thr4539=) c.16335C>G (p.Thr5445=) c.16332C>G (p.Thr5444=) c.16254C>G (p.Thr5418=) c.16239C>G (p.Thr5413=) c.16155C>G (p.Thr5385=) c.9453C>G (p.Thr3151=) c.9432C>G (p.Thr3144=) n.16330C>G | |
5 | g.90823542C>T | CA445436594 | ADGRV1 | c.16314C>T (p.Thr5438=) c.5268C>T (p.Thr1756=) n.3581C>T c.265+147333C>T (n.265+147333C>T) n.128+1360C>T c.2724C>T (p.Thr908=) c.3297C>T (p.Thr1099=) n.16327C>T c.16311C>T (p.Thr5437=) c.16233C>T (p.Thr5411=) c.13617C>T (p.Thr4539=) c.16335C>T (p.Thr5445=) c.16332C>T (p.Thr5444=) c.16254C>T (p.Thr5418=) c.16239C>T (p.Thr5413=) c.16155C>T (p.Thr5385=) c.9453C>T (p.Thr3151=) c.9432C>T (p.Thr3144=) n.16330C>T | gnomAD v4 |
5 | g.90823543T>A | CA360425668 | ADGRV1 | c.16315T>A (p.Cys5439Ser) c.5269T>A (p.Cys1757Ser) n.3582T>A c.265+147334T>A (n.265+147334T>A) n.128+1361T>A c.2725T>A (p.Cys909Ser) c.3298T>A (p.Cys1100Ser) n.16328T>A c.16312T>A (p.Cys5438Ser) c.16234T>A (p.Cys5412Ser) c.13618T>A (p.Cys4540Ser) c.16336T>A (p.Cys5446Ser) c.16333T>A (p.Cys5445Ser) c.16255T>A (p.Cys5419Ser) c.16240T>A (p.Cys5414Ser) c.16156T>A (p.Cys5386Ser) c.9454T>A (p.Cys3152Ser) c.9433T>A (p.Cys3145Ser) n.16331T>A | |
5 | g.90823543T>C | CA360425669 | ADGRV1 | c.16315T>C (p.Cys5439Arg) c.5269T>C (p.Cys1757Arg) n.3582T>C c.265+147334T>C (n.265+147334T>C) n.128+1361T>C c.2725T>C (p.Cys909Arg) c.3298T>C (p.Cys1100Arg) n.16328T>C c.16312T>C (p.Cys5438Arg) c.16234T>C (p.Cys5412Arg) c.13618T>C (p.Cys4540Arg) c.16336T>C (p.Cys5446Arg) c.16333T>C (p.Cys5445Arg) c.16255T>C (p.Cys5419Arg) c.16240T>C (p.Cys5414Arg) c.16156T>C (p.Cys5386Arg) c.9454T>C (p.Cys3152Arg) c.9433T>C (p.Cys3145Arg) n.16331T>C | |
5 | g.90823543T>G | CA360425670 | ADGRV1 | c.16315T>G (p.Cys5439Gly) c.5269T>G (p.Cys1757Gly) n.3582T>G c.265+147334T>G (n.265+147334T>G) n.128+1361T>G c.2725T>G (p.Cys909Gly) c.3298T>G (p.Cys1100Gly) n.16328T>G c.16312T>G (p.Cys5438Gly) c.16234T>G (p.Cys5412Gly) c.13618T>G (p.Cys4540Gly) c.16336T>G (p.Cys5446Gly) c.16333T>G (p.Cys5445Gly) c.16255T>G (p.Cys5419Gly) c.16240T>G (p.Cys5414Gly) c.16156T>G (p.Cys5386Gly) c.9454T>G (p.Cys3152Gly) c.9433T>G (p.Cys3145Gly) n.16331T>G | |
5 | g.90823544G>A | CA360425671 | ADGRV1 | c.16316G>A (p.Cys5439Tyr) c.5270G>A (p.Cys1757Tyr) n.3583G>A c.265+147335G>A (n.265+147335G>A) n.128+1362G>A c.2726G>A (p.Cys909Tyr) c.3299G>A (p.Cys1100Tyr) n.16329G>A c.16313G>A (p.Cys5438Tyr) c.16235G>A (p.Cys5412Tyr) c.13619G>A (p.Cys4540Tyr) c.16337G>A (p.Cys5446Tyr) c.16334G>A (p.Cys5445Tyr) c.16256G>A (p.Cys5419Tyr) c.16241G>A (p.Cys5414Tyr) c.16157G>A (p.Cys5386Tyr) c.9455G>A (p.Cys3152Tyr) c.9434G>A (p.Cys3145Tyr) n.16332G>A | dbSNP gnomAD v4 |
5 | g.90823544G>C | CA360425673 | ADGRV1 | c.16316G>C (p.Cys5439Ser) c.5270G>C (p.Cys1757Ser) n.3583G>C c.265+147335G>C (n.265+147335G>C) n.128+1362G>C c.2726G>C (p.Cys909Ser) c.3299G>C (p.Cys1100Ser) n.16329G>C c.16313G>C (p.Cys5438Ser) c.16235G>C (p.Cys5412Ser) c.13619G>C (p.Cys4540Ser) c.16337G>C (p.Cys5446Ser) c.16334G>C (p.Cys5445Ser) c.16256G>C (p.Cys5419Ser) c.16241G>C (p.Cys5414Ser) c.16157G>C (p.Cys5386Ser) c.9455G>C (p.Cys3152Ser) c.9434G>C (p.Cys3145Ser) n.16332G>C | |
5 | g.90823544G= | CA1562918297 | ADGRV1 | c.16316G= (p.Cys5439=) c.5270G= (p.Cys1757=) n.3583G= c.265+147335G= (n.265+147335G=) n.128+1362G= c.2726G= (p.Cys909=) c.3299G= (p.Cys1100=) n.16329G= c.16313G= (p.Cys5438=) c.16235G= (p.Cys5412=) c.13619G= (p.Cys4540=) c.16337G= (p.Cys5446=) c.16334G= (p.Cys5445=) c.16256G= (p.Cys5419=) c.16241G= (p.Cys5414=) c.16157G= (p.Cys5386=) c.9455G= (p.Cys3152=) c.9434G= (p.Cys3145=) n.16332G= | |
5 | g.90823544G>T | CA360425672 | ADGRV1 | c.16316G>T (p.Cys5439Phe) c.5270G>T (p.Cys1757Phe) n.3583G>T c.265+147335G>T (n.265+147335G>T) n.128+1362G>T c.2726G>T (p.Cys909Phe) c.3299G>T (p.Cys1100Phe) n.16329G>T c.16313G>T (p.Cys5438Phe) c.16235G>T (p.Cys5412Phe) c.13619G>T (p.Cys4540Phe) c.16337G>T (p.Cys5446Phe) c.16334G>T (p.Cys5445Phe) c.16256G>T (p.Cys5419Phe) c.16241G>T (p.Cys5414Phe) c.16157G>T (p.Cys5386Phe) c.9455G>T (p.Cys3152Phe) c.9434G>T (p.Cys3145Phe) n.16332G>T | dbSNP |
5 | g.90823545T>A | CA360425674 | ADGRV1 | c.16317T>A (p.Cys5439Ter) c.5271T>A (p.Cys1757Ter) n.3584T>A c.265+147336T>A (n.265+147336T>A) n.128+1363T>A c.2727T>A (p.Cys909Ter) c.3300T>A (p.Cys1100Ter) n.16330T>A c.16314T>A (p.Cys5438Ter) c.16236T>A (p.Cys5412Ter) c.13620T>A (p.Cys4540Ter) c.16338T>A (p.Cys5446Ter) c.16335T>A (p.Cys5445Ter) c.16257T>A (p.Cys5419Ter) c.16242T>A (p.Cys5414Ter) c.16158T>A (p.Cys5386Ter) c.9456T>A (p.Cys3152Ter) c.9435T>A (p.Cys3145Ter) n.16333T>A | |
5 | g.90823545T>C | CA445436595 | ADGRV1 | c.16317T>C (p.Cys5439=) c.5271T>C (p.Cys1757=) n.3584T>C c.265+147336T>C (n.265+147336T>C) n.128+1363T>C c.2727T>C (p.Cys909=) c.3300T>C (p.Cys1100=) n.16330T>C c.16314T>C (p.Cys5438=) c.16236T>C (p.Cys5412=) c.13620T>C (p.Cys4540=) c.16338T>C (p.Cys5446=) c.16335T>C (p.Cys5445=) c.16257T>C (p.Cys5419=) c.16242T>C (p.Cys5414=) c.16158T>C (p.Cys5386=) c.9456T>C (p.Cys3152=) c.9435T>C (p.Cys3145=) n.16333T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823545T>G | CA360425675 | ADGRV1 | c.16317T>G (p.Cys5439Trp) c.5271T>G (p.Cys1757Trp) n.3584T>G c.265+147336T>G (n.265+147336T>G) n.128+1363T>G c.2727T>G (p.Cys909Trp) c.3300T>G (p.Cys1100Trp) n.16330T>G c.16314T>G (p.Cys5438Trp) c.16236T>G (p.Cys5412Trp) c.13620T>G (p.Cys4540Trp) c.16338T>G (p.Cys5446Trp) c.16335T>G (p.Cys5445Trp) c.16257T>G (p.Cys5419Trp) c.16242T>G (p.Cys5414Trp) c.16158T>G (p.Cys5386Trp) c.9456T>G (p.Cys3152Trp) c.9435T>G (p.Cys3145Trp) n.16333T>G | |
5 | g.90823545T= | CA1562918298 | ADGRV1 | c.16317T= (p.Cys5439=) c.5271T= (p.Cys1757=) n.3584T= c.265+147336T= (n.265+147336T=) n.128+1363T= c.2727T= (p.Cys909=) c.3300T= (p.Cys1100=) n.16330T= c.16314T= (p.Cys5438=) c.16236T= (p.Cys5412=) c.13620T= (p.Cys4540=) c.16338T= (p.Cys5446=) c.16335T= (p.Cys5445=) c.16257T= (p.Cys5419=) c.16242T= (p.Cys5414=) c.16158T= (p.Cys5386=) c.9456T= (p.Cys3152=) c.9435T= (p.Cys3145=) n.16333T= | |
5 | g.90823546A= | CA1562918299 | ADGRV1 | c.16318A= (p.Thr5440=) c.5272A= (p.Thr1758=) n.3585A= c.265+147337A= (n.265+147337A=) n.128+1364A= c.2728A= (p.Thr910=) c.3301A= (p.Thr1101=) n.16331A= c.16315A= (p.Thr5439=) c.16237A= (p.Thr5413=) c.13621A= (p.Thr4541=) c.16339A= (p.Thr5447=) c.16336A= (p.Thr5446=) c.16258A= (p.Thr5420=) c.16243A= (p.Thr5415=) c.16159A= (p.Thr5387=) c.9457A= (p.Thr3153=) c.9436A= (p.Thr3146=) n.16334A= | |
5 | g.90823546A>C | CA360425676 | ADGRV1 | c.16318A>C (p.Thr5440Pro) c.5272A>C (p.Thr1758Pro) n.3585A>C c.265+147337A>C (n.265+147337A>C) n.128+1364A>C c.2728A>C (p.Thr910Pro) c.3301A>C (p.Thr1101Pro) n.16331A>C c.16315A>C (p.Thr5439Pro) c.16237A>C (p.Thr5413Pro) c.13621A>C (p.Thr4541Pro) c.16339A>C (p.Thr5447Pro) c.16336A>C (p.Thr5446Pro) c.16258A>C (p.Thr5420Pro) c.16243A>C (p.Thr5415Pro) c.16159A>C (p.Thr5387Pro) c.9457A>C (p.Thr3153Pro) c.9436A>C (p.Thr3146Pro) n.16334A>C | |
5 | g.90823546A>G | CA360425677 | ADGRV1 | c.16318A>G (p.Thr5440Ala) c.5272A>G (p.Thr1758Ala) n.3585A>G c.265+147337A>G (n.265+147337A>G) n.128+1364A>G c.2728A>G (p.Thr910Ala) c.3301A>G (p.Thr1101Ala) n.16331A>G c.16315A>G (p.Thr5439Ala) c.16237A>G (p.Thr5413Ala) c.13621A>G (p.Thr4541Ala) c.16339A>G (p.Thr5447Ala) c.16336A>G (p.Thr5446Ala) c.16258A>G (p.Thr5420Ala) c.16243A>G (p.Thr5415Ala) c.16159A>G (p.Thr5387Ala) c.9457A>G (p.Thr3153Ala) c.9436A>G (p.Thr3146Ala) n.16334A>G | |
5 | g.90823546A>T | CA360425678 | ADGRV1 | c.16318A>T (p.Thr5440Ser) c.5272A>T (p.Thr1758Ser) n.3585A>T c.265+147337A>T (n.265+147337A>T) n.128+1364A>T c.2728A>T (p.Thr910Ser) c.3301A>T (p.Thr1101Ser) n.16331A>T c.16315A>T (p.Thr5439Ser) c.16237A>T (p.Thr5413Ser) c.13621A>T (p.Thr4541Ser) c.16339A>T (p.Thr5447Ser) c.16336A>T (p.Thr5446Ser) c.16258A>T (p.Thr5420Ser) c.16243A>T (p.Thr5415Ser) c.16159A>T (p.Thr5387Ser) c.9457A>T (p.Thr3153Ser) c.9436A>T (p.Thr3146Ser) n.16334A>T | dbSNP |
5 | g.90823547C>A | CA360425679 | ADGRV1 | c.16319C>A (p.Thr5440Lys) c.5273C>A (p.Thr1758Lys) n.3586C>A c.265+147338C>A (n.265+147338C>A) n.128+1365C>A c.2729C>A (p.Thr910Lys) c.3302C>A (p.Thr1101Lys) n.16332C>A c.16316C>A (p.Thr5439Lys) c.16238C>A (p.Thr5413Lys) c.13622C>A (p.Thr4541Lys) c.16340C>A (p.Thr5447Lys) c.16337C>A (p.Thr5446Lys) c.16259C>A (p.Thr5420Lys) c.16244C>A (p.Thr5415Lys) c.16160C>A (p.Thr5387Lys) c.9458C>A (p.Thr3153Lys) c.9437C>A (p.Thr3146Lys) n.16335C>A | ClinVar dbSNP gnomAD v4 |
5 | g.90823547C= | CA1562918300 | ADGRV1 | c.16319C= (p.Thr5440=) c.5273C= (p.Thr1758=) n.3586C= c.265+147338C= (n.265+147338C=) n.128+1365C= c.2729C= (p.Thr910=) c.3302C= (p.Thr1101=) n.16332C= c.16316C= (p.Thr5439=) c.16238C= (p.Thr5413=) c.13622C= (p.Thr4541=) c.16340C= (p.Thr5447=) c.16337C= (p.Thr5446=) c.16259C= (p.Thr5420=) c.16244C= (p.Thr5415=) c.16160C= (p.Thr5387=) c.9458C= (p.Thr3153=) c.9437C= (p.Thr3146=) n.16335C= | |
5 | g.90823547C>G | CA360425680 | ADGRV1 | c.16319C>G (p.Thr5440Arg) c.5273C>G (p.Thr1758Arg) n.3586C>G c.265+147338C>G (n.265+147338C>G) n.128+1365C>G c.2729C>G (p.Thr910Arg) c.3302C>G (p.Thr1101Arg) n.16332C>G c.16316C>G (p.Thr5439Arg) c.16238C>G (p.Thr5413Arg) c.13622C>G (p.Thr4541Arg) c.16340C>G (p.Thr5447Arg) c.16337C>G (p.Thr5446Arg) c.16259C>G (p.Thr5420Arg) c.16244C>G (p.Thr5415Arg) c.16160C>G (p.Thr5387Arg) c.9458C>G (p.Thr3153Arg) c.9437C>G (p.Thr3146Arg) n.16335C>G | |
5 | g.90823547C>T | CA360425681 | ADGRV1 | c.16319C>T (p.Thr5440Ile) c.5273C>T (p.Thr1758Ile) n.3586C>T c.265+147338C>T (n.265+147338C>T) n.128+1365C>T c.2729C>T (p.Thr910Ile) c.3302C>T (p.Thr1101Ile) n.16332C>T c.16316C>T (p.Thr5439Ile) c.16238C>T (p.Thr5413Ile) c.13622C>T (p.Thr4541Ile) c.16340C>T (p.Thr5447Ile) c.16337C>T (p.Thr5446Ile) c.16259C>T (p.Thr5420Ile) c.16244C>T (p.Thr5415Ile) c.16160C>T (p.Thr5387Ile) c.9458C>T (p.Thr3153Ile) c.9437C>T (p.Thr3146Ile) n.16335C>T | dbSNP gnomAD v4 |
5 | g.90823548A= | CA1562918301 | ADGRV1 | c.16320A= (p.Thr5440=) c.5274A= (p.Thr1758=) n.3587A= c.265+147339A= (n.265+147339A=) n.128+1366A= c.2730A= (p.Thr910=) c.3303A= (p.Thr1101=) n.16333A= c.16317A= (p.Thr5439=) c.16239A= (p.Thr5413=) c.13623A= (p.Thr4541=) c.16341A= (p.Thr5447=) c.16338A= (p.Thr5446=) c.16260A= (p.Thr5420=) c.16245A= (p.Thr5415=) c.16161A= (p.Thr5387=) c.9459A= (p.Thr3153=) c.9438A= (p.Thr3146=) n.16336A= | |
5 | g.90823548A>C | CA445436596 | ADGRV1 | c.16320A>C (p.Thr5440=) c.5274A>C (p.Thr1758=) n.3587A>C c.265+147339A>C (n.265+147339A>C) n.128+1366A>C c.2730A>C (p.Thr910=) c.3303A>C (p.Thr1101=) n.16333A>C c.16317A>C (p.Thr5439=) c.16239A>C (p.Thr5413=) c.13623A>C (p.Thr4541=) c.16341A>C (p.Thr5447=) c.16338A>C (p.Thr5446=) c.16260A>C (p.Thr5420=) c.16245A>C (p.Thr5415=) c.16161A>C (p.Thr5387=) c.9459A>C (p.Thr3153=) c.9438A>C (p.Thr3146=) n.16336A>C | |
5 | g.90823548A>G | CA445436597 | ADGRV1 | c.16320A>G (p.Thr5440=) c.5274A>G (p.Thr1758=) n.3587A>G c.265+147339A>G (n.265+147339A>G) n.128+1366A>G c.2730A>G (p.Thr910=) c.3303A>G (p.Thr1101=) n.16333A>G c.16317A>G (p.Thr5439=) c.16239A>G (p.Thr5413=) c.13623A>G (p.Thr4541=) c.16341A>G (p.Thr5447=) c.16338A>G (p.Thr5446=) c.16260A>G (p.Thr5420=) c.16245A>G (p.Thr5415=) c.16161A>G (p.Thr5387=) c.9459A>G (p.Thr3153=) c.9438A>G (p.Thr3146=) n.16336A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.90823548A>T | CA445436598 | ADGRV1 | c.16320A>T (p.Thr5440=) c.5274A>T (p.Thr1758=) n.3587A>T c.265+147339A>T (n.265+147339A>T) n.128+1366A>T c.2730A>T (p.Thr910=) c.3303A>T (p.Thr1101=) n.16333A>T c.16317A>T (p.Thr5439=) c.16239A>T (p.Thr5413=) c.13623A>T (p.Thr4541=) c.16341A>T (p.Thr5447=) c.16338A>T (p.Thr5446=) c.16260A>T (p.Thr5420=) c.16245A>T (p.Thr5415=) c.16161A>T (p.Thr5387=) c.9459A>T (p.Thr3153=) c.9438A>T (p.Thr3146=) n.16336A>T |