Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214947412A= | CA1327147234 | ABCA12,SNHG31 | c.7239+10T= (n.7239+10T=) c.6285+10T= (n.6285+10T=) n.7539+10T= n.322-413A= c.7248+10T= (n.7248+10T=) n.7737+10T= | |
2 | g.214947412A>G | CA2090712 | ABCA12,SNHG31 | c.7239+10T>C (n.7239+10T>C) c.6285+10T>C (n.6285+10T>C) n.7539+10T>C n.322-413A>G c.7248+10T>C (n.7248+10T>C) n.7737+10T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214947415C>G | CA2662975048 | ABCA12,SNHG31 | c.7239+7G>C (n.7239+7G>C) c.6285+7G>C (n.6285+7G>C) n.7539+7G>C n.322-410C>G c.7248+7G>C (n.7248+7G>C) n.7737+7G>C | gnomAD v4 |
2 | g.214947415C>T | CA2662975049 | ABCA12,SNHG31 | c.7239+7G>A (n.7239+7G>A) c.6285+7G>A (n.6285+7G>A) n.7539+7G>A n.322-410C>T c.7248+7G>A (n.7248+7G>A) n.7737+7G>A | gnomAD v4 |
2 | g.214947416T>A | CA2662975050 | ABCA12,SNHG31 | c.7239+6A>T (n.7239+6A>T) c.6285+6A>T (n.6285+6A>T) n.7539+6A>T n.322-409T>A c.7248+6A>T (n.7248+6A>T) n.7737+6A>T | gnomAD v4 |
2 | g.214947416_214947421delinsTCTTAC | CA1327147235 | ABCA12,SNHG31 | c.7239+1_7239+6delinsGTAAGA (n.7239+1_7239+6delinsGTAAGA) c.6285+1_6285+6delinsGTAAGA (n.6285+1_6285+6delinsGTAAGA) n.7539+1_7539+6delinsGTAAGA n.322-409_322-404delinsTCTTAC c.7248+1_7248+6delinsGTAAGA (n.7248+1_7248+6delinsGTAAGA) n.7737+1_7737+6delinsGTAAGA | |
2 | g.214947417C= | CA1327147236 | ABCA12,SNHG31 | c.7239+5G= (n.7239+5G=) c.6285+5G= (n.6285+5G=) n.7539+5G= n.322-408C= c.7248+5G= (n.7248+5G=) n.7737+5G= | |
2 | g.214947417C>T | CA539752552 | ABCA12,SNHG31 | c.7239+5G>A (n.7239+5G>A) c.6285+5G>A (n.6285+5G>A) n.7539+5G>A n.322-408C>T c.7248+5G>A (n.7248+5G>A) n.7737+5G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214947418_214947422del | CA539752551 | ABCA12,SNHG31 | c.7239+1_7239+5del c.6285+1_6285+5del n.7539+1_7539+5del n.322-407_322-403del c.7248+1_7248+5del n.7737+1_7737+5del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214947420A>C | CA350793790 | ABCA12,SNHG31 | c.7239+2T>G (n.7239+2T>G) c.6285+2T>G (n.6285+2T>G) n.7539+2T>G n.322-405A>C c.7248+2T>G (n.7248+2T>G) n.7737+2T>G | |
2 | g.214947420A>G | CA350793791 | ABCA12,SNHG31 | c.7239+2T>C (n.7239+2T>C) c.6285+2T>C (n.6285+2T>C) n.7539+2T>C n.322-405A>G c.7248+2T>C (n.7248+2T>C) n.7737+2T>C | |
2 | g.214947420A>T | CA350793792 | ABCA12,SNHG31 | c.7239+2T>A (n.7239+2T>A) c.6285+2T>A (n.6285+2T>A) n.7539+2T>A n.322-405A>T c.7248+2T>A (n.7248+2T>A) n.7737+2T>A | |
2 | g.214947421C>A | CA350793793 | ABCA12,SNHG31 | c.7239+1G>T (n.7239+1G>T) c.6285+1G>T (n.6285+1G>T) n.7539+1G>T n.322-404C>A c.7248+1G>T (n.7248+1G>T) n.7737+1G>T | |
2 | g.214947421C>G | CA350793794 | ABCA12,SNHG31 | c.7239+1G>C (n.7239+1G>C) c.6285+1G>C (n.6285+1G>C) n.7539+1G>C n.322-404C>G c.7248+1G>C (n.7248+1G>C) n.7737+1G>C | |
2 | g.214947421C>T | CA350793795 | ABCA12,SNHG31 | c.7239+1G>A (n.7239+1G>A) c.6285+1G>A (n.6285+1G>A) n.7539+1G>A n.322-404C>T c.7248+1G>A (n.7248+1G>A) n.7737+1G>A | gnomAD v4 |
2 | g.214947422C>A | CA431319678 | ABCA12,SNHG31 | c.7239G>T (p.Leu2413=) c.6285G>T (p.Leu2095=) n.7539G>T n.322-403C>A c.7248G>T (p.Leu2416=) n.7737G>T | |
2 | g.214947422C= | CA1327147237 | ABCA12,SNHG31 | c.7239G= (p.Leu2413=) c.6285G= (p.Leu2095=) n.7539G= n.322-403C= c.7248G= (p.Leu2416=) n.7737G= | |
2 | g.214947422C>G | CA431319679 | ABCA12,SNHG31 | c.7239G>C (p.Leu2413=) c.6285G>C (p.Leu2095=) n.7539G>C n.322-403C>G c.7248G>C (p.Leu2416=) n.7737G>C | |
2 | g.214947422C>T | CA65502950 | ABCA12,SNHG31 | c.7239G>A (p.Leu2413=) c.6285G>A (p.Leu2095=) n.7539G>A n.322-403C>T c.7248G>A (p.Leu2416=) n.7737G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214947423A>C | CA350793796 | ABCA12,SNHG31 | c.7238T>G (p.Leu2413Arg) c.6284T>G (p.Leu2095Arg) n.7538T>G n.322-402A>C c.7247T>G (p.Leu2416Arg) n.7736T>G | |
2 | g.214947423A>G | CA350793797 | ABCA12,SNHG31 | c.7238T>C (p.Leu2413Pro) c.6284T>C (p.Leu2095Pro) n.7538T>C n.322-402A>G c.7247T>C (p.Leu2416Pro) n.7736T>C | |
2 | g.214947423A>T | CA350793798 | ABCA12,SNHG31 | c.7238T>A (p.Leu2413Gln) c.6284T>A (p.Leu2095Gln) n.7538T>A n.322-402A>T c.7247T>A (p.Leu2416Gln) n.7736T>A | COSMIC COSMIC |
2 | g.214947424G>A | CA431319686 | ABCA12,SNHG31 | c.7237C>T (p.Leu2413=) c.6283C>T (p.Leu2095=) n.7537C>T n.322-401G>A c.7246C>T (p.Leu2416=) n.7735C>T | |
2 | g.214947424G>C | CA350793799 | ABCA12,SNHG31 | c.7237C>G (p.Leu2413Val) c.6283C>G (p.Leu2095Val) n.7537C>G n.322-401G>C c.7246C>G (p.Leu2416Val) n.7735C>G | |
2 | g.214947424G>T | CA350793800 | ABCA12,SNHG31 | c.7237C>A (p.Leu2413Met) c.6283C>A (p.Leu2095Met) n.7537C>A n.322-401G>T c.7246C>A (p.Leu2416Met) n.7735C>A | |
2 | g.214947425C>A | CA431319687 | ABCA12,SNHG31 | c.7236G>T (p.Leu2412=) c.6282G>T (p.Leu2094=) n.7536G>T n.322-400C>A c.7245G>T (p.Leu2415=) n.7734G>T | ClinVar gnomAD v4 |
2 | g.214947425C>G | CA431319688 | ABCA12,SNHG31 | c.7236G>C (p.Leu2412=) c.6282G>C (p.Leu2094=) n.7536G>C n.322-400C>G c.7245G>C (p.Leu2415=) n.7734G>C | |
2 | g.214947425C>T | CA431319690 | ABCA12,SNHG31 | c.7236G>A (p.Leu2412=) c.6282G>A (p.Leu2094=) n.7536G>A n.322-400C>T c.7245G>A (p.Leu2415=) n.7734G>A | |
2 | g.214947426A>C | CA350793801 | ABCA12,SNHG31 | c.7235T>G (p.Leu2412Arg) c.6281T>G (p.Leu2094Arg) n.7535T>G n.322-399A>C c.7244T>G (p.Leu2415Arg) n.7733T>G | |
2 | g.214947426A>G | CA350793802 | ABCA12,SNHG31 | c.7235T>C (p.Leu2412Pro) c.6281T>C (p.Leu2094Pro) n.7535T>C n.322-399A>G c.7244T>C (p.Leu2415Pro) n.7733T>C | |
2 | g.214947426A>T | CA350793803 | ABCA12,SNHG31 | c.7235T>A (p.Leu2412Gln) c.6281T>A (p.Leu2094Gln) n.7535T>A n.322-399A>T c.7244T>A (p.Leu2415Gln) n.7733T>A | |
2 | g.214947428_214947430dup | CA2577234620 | ABCA12,SNHG31 | c.7233_7235dup (p.Leu2412_Leu2413insLeu) c.6279_6281dup (p.Leu2094_Leu2095insLeu) n.7533_7535dup n.322-397_322-395dup c.7242_7244dup (p.Leu2415_Leu2416insLeu) n.7731_7733dup | |
2 | g.214947427G>A | CA431319694 | ABCA12,SNHG31 | c.7234C>T (p.Leu2412=) c.6280C>T (p.Leu2094=) n.7534C>T n.322-398G>A c.7243C>T (p.Leu2415=) n.7732C>T | |
2 | g.214947427G>C | CA350793804 | ABCA12,SNHG31 | c.7234C>G (p.Leu2412Val) c.6280C>G (p.Leu2094Val) n.7534C>G n.322-398G>C c.7243C>G (p.Leu2415Val) n.7732C>G | |
2 | g.214947427G>T | CA350793805 | ABCA12,SNHG31 | c.7234C>A (p.Leu2412Met) c.6280C>A (p.Leu2094Met) n.7534C>A n.322-398G>T c.7243C>A (p.Leu2415Met) n.7732C>A | |
2 | g.214947428T>A | CA431319697 | ABCA12,SNHG31 | c.7233A>T (p.Leu2411=) c.6279A>T (p.Leu2093=) n.7533A>T n.322-397T>A c.7242A>T (p.Leu2414=) n.7731A>T | |
2 | g.214947428T>C | CA431319698 | ABCA12,SNHG31 | c.7233A>G (p.Leu2411=) c.6279A>G (p.Leu2093=) n.7533A>G n.322-397T>C c.7242A>G (p.Leu2414=) n.7731A>G | gnomAD v4 |
2 | g.214947428T>G | CA431319700 | ABCA12,SNHG31 | c.7233A>C (p.Leu2411=) c.6279A>C (p.Leu2093=) n.7533A>C n.322-397T>G c.7242A>C (p.Leu2414=) n.7731A>C | |
2 | g.214947429A>C | CA350793806 | ABCA12,SNHG31 | c.7232T>G (p.Leu2411Arg) c.6278T>G (p.Leu2093Arg) n.7532T>G n.322-396A>C c.7241T>G (p.Leu2414Arg) n.7730T>G | |
2 | g.214947429A>G | CA350793807 | ABCA12,SNHG31 | c.7232T>C (p.Leu2411Pro) c.6278T>C (p.Leu2093Pro) n.7532T>C n.322-396A>G c.7241T>C (p.Leu2414Pro) n.7730T>C | gnomAD v4 |
2 | g.214947429A>T | CA350793808 | ABCA12,SNHG31 | c.7232T>A (p.Leu2411Gln) c.6278T>A (p.Leu2093Gln) n.7532T>A n.322-396A>T c.7241T>A (p.Leu2414Gln) n.7730T>A | |
2 | g.214947430G>A | CA431319704 | ABCA12,SNHG31 | c.7231C>T (p.Leu2411=) c.6277C>T (p.Leu2093=) n.7531C>T n.322-395G>A c.7240C>T (p.Leu2414=) n.7729C>T | gnomAD v4 |
2 | g.214947430G>C | CA350793809 | ABCA12,SNHG31 | c.7231C>G (p.Leu2411Val) c.6277C>G (p.Leu2093Val) n.7531C>G n.322-395G>C c.7240C>G (p.Leu2414Val) n.7729C>G | |
2 | g.214947430G>T | CA350793810 | ABCA12,SNHG31 | c.7231C>A (p.Leu2411Ile) c.6277C>A (p.Leu2093Ile) n.7531C>A n.322-395G>T c.7240C>A (p.Leu2414Ile) n.7729C>A | |
2 | g.214947431A= | CA1327147238 | ABCA12,SNHG31 | c.7230T= (p.Ile2410=) c.6276T= (p.Ile2092=) n.7530T= n.322-394A= c.7239T= (p.Ile2413=) n.7728T= | |
2 | g.214947431A>C | CA350793811 | ABCA12,SNHG31 | c.7230T>G (p.Ile2410Met) c.6276T>G (p.Ile2092Met) n.7530T>G n.322-394A>C c.7239T>G (p.Ile2413Met) n.7728T>G | |
2 | g.214947431A>G | CA431319708 | ABCA12,SNHG31 | c.7230T>C (p.Ile2410=) c.6276T>C (p.Ile2092=) n.7530T>C n.322-394A>G c.7239T>C (p.Ile2413=) n.7728T>C | dbSNP gnomAD v4 |
2 | g.214947431A>T | CA431319710 | ABCA12,SNHG31 | c.7230T>A (p.Ile2410=) c.6276T>A (p.Ile2092=) n.7530T>A n.322-394A>T c.7239T>A (p.Ile2413=) n.7728T>A | |
2 | g.214947432A>C | CA350793812 | ABCA12,SNHG31 | c.7229T>G (p.Ile2410Ser) c.6275T>G (p.Ile2092Ser) n.7529T>G n.322-393A>C c.7238T>G (p.Ile2413Ser) n.7727T>G | |
2 | g.214947432A>G | CA350793813 | ABCA12,SNHG31 | c.7229T>C (p.Ile2410Thr) c.6275T>C (p.Ile2092Thr) n.7529T>C n.322-393A>G c.7238T>C (p.Ile2413Thr) n.7727T>C | |
2 | g.214947432A>T | CA350793814 | ABCA12,SNHG31 | c.7229T>A (p.Ile2410Asn) c.6275T>A (p.Ile2092Asn) n.7529T>A n.322-393A>T c.7238T>A (p.Ile2413Asn) n.7727T>A | |
2 | g.214947433T>A | CA350793815 | ABCA12,SNHG31 | c.7228A>T (p.Ile2410Phe) c.6274A>T (p.Ile2092Phe) n.7528A>T n.322-392T>A c.7237A>T (p.Ile2413Phe) n.7726A>T | |
2 | g.214947433T>C | CA350793816 | ABCA12,SNHG31 | c.7228A>G (p.Ile2410Val) c.6274A>G (p.Ile2092Val) n.7528A>G n.322-392T>C c.7237A>G (p.Ile2413Val) n.7726A>G | |
2 | g.214947433T>G | CA350793817 | ABCA12,SNHG31 | c.7228A>C (p.Ile2410Leu) c.6274A>C (p.Ile2092Leu) n.7528A>C n.322-392T>G c.7237A>C (p.Ile2413Leu) n.7726A>C | |
2 | g.214947434G>A | CA65502951 | ABCA12,SNHG31 | c.7227C>T (p.Ser2409=) c.6273C>T (p.Ser2091=) n.7527C>T n.322-391G>A c.7236C>T (p.Ser2412=) n.7725C>T | dbSNP |
2 | g.214947434G>C | CA431319717 | ABCA12,SNHG31 | c.7227C>G (p.Ser2409=) c.6273C>G (p.Ser2091=) n.7527C>G n.322-391G>C c.7236C>G (p.Ser2412=) n.7725C>G | |
2 | g.214947434G= | CA1327147239 | ABCA12,SNHG31 | c.7227C= (p.Ser2409=) c.6273C= (p.Ser2091=) n.7527C= n.322-391G= c.7236C= (p.Ser2412=) n.7725C= | |
2 | g.214947434G>T | CA431319715 | ABCA12,SNHG31 | c.7227C>A (p.Ser2409=) c.6273C>A (p.Ser2091=) n.7527C>A n.322-391G>T c.7236C>A (p.Ser2412=) n.7725C>A | |
2 | g.214947435G>A | CA350793818 | ABCA12,SNHG31 | c.7226C>T (p.Ser2409Phe) c.6272C>T (p.Ser2091Phe) n.7526C>T n.322-390G>A c.7235C>T (p.Ser2412Phe) n.7724C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214947435G>C | CA350793819 | ABCA12,SNHG31 | c.7226C>G (p.Ser2409Cys) c.6272C>G (p.Ser2091Cys) n.7526C>G n.322-390G>C c.7235C>G (p.Ser2412Cys) n.7724C>G | |
2 | g.214947435G= | CA1327147240 | ABCA12,SNHG31 | c.7226C= (p.Ser2409=) c.6272C= (p.Ser2091=) n.7526C= n.322-390G= c.7235C= (p.Ser2412=) n.7724C= | |
2 | g.214947435G>T | CA350793820 | ABCA12,SNHG31 | c.7226C>A (p.Ser2409Tyr) c.6272C>A (p.Ser2091Tyr) n.7526C>A n.322-390G>T c.7235C>A (p.Ser2412Tyr) n.7724C>A | |
2 | g.214947436A= | CA1327147241 | ABCA12,SNHG31 | c.7225T= (p.Ser2409=) c.6271T= (p.Ser2091=) n.7525T= n.322-389A= c.7234T= (p.Ser2412=) n.7723T= | |
2 | g.214947436A>C | CA350793821 | ABCA12,SNHG31 | c.7225T>G (p.Ser2409Ala) c.6271T>G (p.Ser2091Ala) n.7525T>G n.322-389A>C c.7234T>G (p.Ser2412Ala) n.7723T>G | dbSNP |
2 | g.214947436A>G | CA350793822 | ABCA12,SNHG31 | c.7225T>C (p.Ser2409Pro) c.6271T>C (p.Ser2091Pro) n.7525T>C n.322-389A>G c.7234T>C (p.Ser2412Pro) n.7723T>C | |
2 | g.214947436A>T | CA350793823 | ABCA12,SNHG31 | c.7225T>A (p.Ser2409Thr) c.6271T>A (p.Ser2091Thr) n.7525T>A n.322-389A>T c.7234T>A (p.Ser2412Thr) n.7723T>A | |
2 | g.214947437A= | CA1327147242 | ABCA12,SNHG31 | c.7224T= (p.Pro2408=) c.6270T= (p.Pro2090=) n.7524T= n.322-388A= c.7233T= (p.Pro2411=) n.7722T= | |
2 | g.214947437A>C | CA431319727 | ABCA12,SNHG31 | c.7224T>G (p.Pro2408=) c.6270T>G (p.Pro2090=) n.7524T>G n.322-388A>C c.7233T>G (p.Pro2411=) n.7722T>G | ClinVar dbSNP gnomAD v4 |
2 | g.214947437A>G | CA431319725 | ABCA12,SNHG31 | c.7224T>C (p.Pro2408=) c.6270T>C (p.Pro2090=) n.7524T>C n.322-388A>G c.7233T>C (p.Pro2411=) n.7722T>C | |
2 | g.214947437A>T | CA431319723 | ABCA12,SNHG31 | c.7224T>A (p.Pro2408=) c.6270T>A (p.Pro2090=) n.7524T>A n.322-388A>T c.7233T>A (p.Pro2411=) n.7722T>A | |
2 | g.214947438G>A | CA350793826 | ABCA12,SNHG31 | c.7223C>T (p.Pro2408Leu) c.6269C>T (p.Pro2090Leu) n.7523C>T n.322-387G>A c.7232C>T (p.Pro2411Leu) n.7721C>T | |
2 | g.214947438G>C | CA350793824 | ABCA12,SNHG31 | c.7223C>G (p.Pro2408Arg) c.6269C>G (p.Pro2090Arg) n.7523C>G n.322-387G>C c.7232C>G (p.Pro2411Arg) n.7721C>G | |
2 | g.214947438G>T | CA350793825 | ABCA12,SNHG31 | c.7223C>A (p.Pro2408His) c.6269C>A (p.Pro2090His) n.7523C>A n.322-387G>T c.7232C>A (p.Pro2411His) n.7721C>A | COSMIC COSMIC |
2 | g.214947439G>A | CA65502952 | ABCA12,SNHG31 | c.7222C>T (p.Pro2408Ser) c.6268C>T (p.Pro2090Ser) n.7522C>T n.322-386G>A c.7231C>T (p.Pro2411Ser) n.7720C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214947439G>C | CA350793827 | ABCA12,SNHG31 | c.7222C>G (p.Pro2408Ala) c.6268C>G (p.Pro2090Ala) n.7522C>G n.322-386G>C c.7231C>G (p.Pro2411Ala) n.7720C>G | |
2 | g.214947439G= | CA1327147243 | ABCA12,SNHG31 | c.7222C= (p.Pro2408=) c.6268C= (p.Pro2090=) n.7522C= n.322-386G= c.7231C= (p.Pro2411=) n.7720C= | |
2 | g.214947439G>T | CA350793828 | ABCA12,SNHG31 | c.7222C>A (p.Pro2408Thr) c.6268C>A (p.Pro2090Thr) n.7522C>A n.322-386G>T c.7231C>A (p.Pro2411Thr) n.7720C>A | |
2 | g.214947440T>A | CA350793829 | ABCA12,SNHG31 | c.7221A>T (p.Lys2407Asn) c.6267A>T (p.Lys2089Asn) n.7521A>T n.322-385T>A c.7230A>T (p.Lys2410Asn) n.7719A>T | |
2 | g.214947440T>C | CA65502953 | ABCA12,SNHG31 | c.7221A>G (p.Lys2407=) c.6267A>G (p.Lys2089=) n.7521A>G n.322-385T>C c.7230A>G (p.Lys2410=) n.7719A>G | dbSNP gnomAD v4 |
2 | g.214947440T>G | CA350793830 | ABCA12,SNHG31 | c.7221A>C (p.Lys2407Asn) c.6267A>C (p.Lys2089Asn) n.7521A>C n.322-385T>G c.7230A>C (p.Lys2410Asn) n.7719A>C | |
2 | g.214947440T= | CA1327147244 | ABCA12,SNHG31 | c.7221A= (p.Lys2407=) c.6267A= (p.Lys2089=) n.7521A= n.322-385T= c.7230A= (p.Lys2410=) n.7719A= | |
2 | g.214947442del | CA2662975051 | ABCA12,SNHG31 | c.7221del (p.Lys2407AsnfsTer?) c.6267del (p.Lys2089AsnfsTer?) n.7521del n.322-383del c.7230del (p.Lys2410AsnfsTer?) n.7719del | gnomAD v4 |
2 | g.214947441T>A | CA350793831 | ABCA12,SNHG31 | c.7220A>T (p.Lys2407Ile) c.6266A>T (p.Lys2089Ile) n.7520A>T n.322-384T>A c.7229A>T (p.Lys2410Ile) n.7718A>T | |
2 | g.214947441T>C | CA350793832 | ABCA12,SNHG31 | c.7220A>G (p.Lys2407Arg) c.6266A>G (p.Lys2089Arg) n.7520A>G n.322-384T>C c.7229A>G (p.Lys2410Arg) n.7718A>G | |
2 | g.214947441T>G | CA350793833 | ABCA12,SNHG31 | c.7220A>C (p.Lys2407Thr) c.6266A>C (p.Lys2089Thr) n.7520A>C n.322-384T>G c.7229A>C (p.Lys2410Thr) n.7718A>C | |
2 | g.214947442T>A | CA350793834 | ABCA12,SNHG31 | c.7219A>T (p.Lys2407Ter) c.6265A>T (p.Lys2089Ter) n.7519A>T n.322-383T>A c.7228A>T (p.Lys2410Ter) n.7717A>T | |
2 | g.214947442T>C | CA350793835 | ABCA12,SNHG31 | c.7219A>G (p.Lys2407Glu) c.6265A>G (p.Lys2089Glu) n.7519A>G n.322-383T>C c.7228A>G (p.Lys2410Glu) n.7717A>G | |
2 | g.214947442T>G | CA350793836 | ABCA12,SNHG31 | c.7219A>C (p.Lys2407Gln) c.6265A>C (p.Lys2089Gln) n.7519A>C n.322-383T>G c.7228A>C (p.Lys2410Gln) n.7717A>C | |
2 | g.214947443C>A | CA431319740 | ABCA12,SNHG31 | c.7218G>T (p.Gly2406=) c.6264G>T (p.Gly2088=) n.7518G>T n.322-382C>A c.7227G>T (p.Gly2409=) n.7716G>T | |
2 | g.214947443C= | CA1327147245 | ABCA12,SNHG31 | c.7218G= (p.Gly2406=) c.6264G= (p.Gly2088=) n.7518G= n.322-382C= c.7227G= (p.Gly2409=) n.7716G= | |
2 | g.214947443C>G | CA2090713 | ABCA12,SNHG31 | c.7218G>C (p.Gly2406=) c.6264G>C (p.Gly2088=) n.7518G>C n.322-382C>G c.7227G>C (p.Gly2409=) n.7716G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214947443C>T | CA431319742 | ABCA12,SNHG31 | c.7218G>A (p.Gly2406=) c.6264G>A (p.Gly2088=) n.7518G>A n.322-382C>T c.7227G>A (p.Gly2409=) n.7716G>A | COSMIC |
2 | g.214947443_214947444delinsTT | CA645535906 | ABCA12,SNHG31 | c.7217_7218delinsAA (p.Gly2406Glu) c.6263_6264delinsAA (p.Gly2088Glu) n.7517_7518delinsAA n.322-382_322-381delinsTT c.7226_7227delinsAA (p.Gly2409Glu) n.7715_7716delinsAA | COSMIC |
2 | g.214947444C>A | CA350793838 | ABCA12,SNHG31 | c.7217G>T (p.Gly2406Val) c.6263G>T (p.Gly2088Val) n.7517G>T n.322-381C>A c.7226G>T (p.Gly2409Val) n.7715G>T | |
2 | g.214947444C>G | CA350793837 | ABCA12,SNHG31 | c.7217G>C (p.Gly2406Ala) c.6263G>C (p.Gly2088Ala) n.7517G>C n.322-381C>G c.7226G>C (p.Gly2409Ala) n.7715G>C | |
2 | g.214947444C>T | CA350793839 | ABCA12,SNHG31 | c.7217G>A (p.Gly2406Glu) c.6263G>A (p.Gly2088Glu) n.7517G>A n.322-381C>T c.7226G>A (p.Gly2409Glu) n.7715G>A | |
2 | g.214947445C>A | CA350793840 | ABCA12,SNHG31 | c.7216G>T (p.Gly2406Trp) c.6262G>T (p.Gly2088Trp) n.7516G>T n.322-380C>A c.7225G>T (p.Gly2409Trp) n.7714G>T | |
2 | g.214947445C>G | CA350793841 | ABCA12,SNHG31 | c.7216G>C (p.Gly2406Arg) c.6262G>C (p.Gly2088Arg) n.7516G>C n.322-380C>G c.7225G>C (p.Gly2409Arg) n.7714G>C | |
2 | g.214947445C>T | CA350793842 | ABCA12,SNHG31 | c.7216G>A (p.Gly2406Arg) c.6262G>A (p.Gly2088Arg) n.7516G>A n.322-380C>T c.7225G>A (p.Gly2409Arg) n.7714G>A | |
2 | g.214947446T>A | CA431319748 | ABCA12,SNHG31 | c.7215A>T (p.Ile2405=) c.6261A>T (p.Ile2087=) n.7515A>T n.322-379T>A c.7224A>T (p.Ile2408=) n.7713A>T | |
2 | g.214947446T>C | CA350793843 | ABCA12,SNHG31 | c.7215A>G (p.Ile2405Met) c.6261A>G (p.Ile2087Met) n.7515A>G n.322-379T>C c.7224A>G (p.Ile2408Met) n.7713A>G | |
2 | g.214947446T>G | CA431319749 | ABCA12,SNHG31 | c.7215A>C (p.Ile2405=) c.6261A>C (p.Ile2087=) n.7515A>C n.322-379T>G c.7224A>C (p.Ile2408=) n.7713A>C | |
2 | g.214947447A= | CA1327147246 | ABCA12,SNHG31 | c.7214T= (p.Ile2405=) c.6260T= (p.Ile2087=) n.7514T= n.322-378A= c.7223T= (p.Ile2408=) n.7712T= | |
2 | g.214947447A>C | CA350793844 | ABCA12,SNHG31 | c.7214T>G (p.Ile2405Arg) c.6260T>G (p.Ile2087Arg) n.7514T>G n.322-378A>C c.7223T>G (p.Ile2408Arg) n.7712T>G | |
2 | g.214947447A>G | CA2090714 | ABCA12,SNHG31 | c.7214T>C (p.Ile2405Thr) c.6260T>C (p.Ile2087Thr) n.7514T>C n.322-378A>G c.7223T>C (p.Ile2408Thr) n.7712T>C | dbSNP ExAC gnomAD v2 |
2 | g.214947447A>T | CA2090715 | ABCA12,SNHG31 | c.7214T>A (p.Ile2405Lys) c.6260T>A (p.Ile2087Lys) n.7514T>A n.322-378A>T c.7223T>A (p.Ile2408Lys) n.7712T>A | dbSNP ExAC gnomAD v4 |
2 | g.214947448T>A | CA350793845 | ABCA12,SNHG31 | c.7213A>T (p.Ile2405Leu) c.6259A>T (p.Ile2087Leu) n.7513A>T n.322-377T>A c.7222A>T (p.Ile2408Leu) n.7711A>T | |
2 | g.214947448T>C | CA350793846 | ABCA12,SNHG31 | c.7213A>G (p.Ile2405Val) c.6259A>G (p.Ile2087Val) n.7513A>G n.322-377T>C c.7222A>G (p.Ile2408Val) n.7711A>G | |
2 | g.214947448T>G | CA350793847 | ABCA12,SNHG31 | c.7213A>C (p.Ile2405Leu) c.6259A>C (p.Ile2087Leu) n.7513A>C n.322-377T>G c.7222A>C (p.Ile2408Leu) n.7711A>C | |
2 | g.214947449C>A | CA350793848 | ABCA12,SNHG31 | c.7212G>T (p.Leu2404Phe) c.6258G>T (p.Leu2086Phe) n.7512G>T n.322-376C>A c.7221G>T (p.Leu2407Phe) n.7710G>T | |
2 | g.214947449C>G | CA350793849 | ABCA12,SNHG31 | c.7212G>C (p.Leu2404Phe) c.6258G>C (p.Leu2086Phe) n.7512G>C n.322-376C>G c.7221G>C (p.Leu2407Phe) n.7710G>C | |
2 | g.214947449C>T | CA431319757 | ABCA12,SNHG31 | c.7212G>A (p.Leu2404=) c.6258G>A (p.Leu2086=) n.7512G>A n.322-376C>T c.7221G>A (p.Leu2407=) n.7710G>A | gnomAD v4 |
2 | g.214947450A>C | CA350793852 | ABCA12,SNHG31 | c.7211T>G (p.Leu2404Trp) c.6257T>G (p.Leu2086Trp) n.7511T>G n.322-375A>C c.7220T>G (p.Leu2407Trp) n.7709T>G | |
2 | g.214947450A>G | CA350793851 | ABCA12,SNHG31 | c.7211T>C (p.Leu2404Ser) c.6257T>C (p.Leu2086Ser) n.7511T>C n.322-375A>G c.7220T>C (p.Leu2407Ser) n.7709T>C | |
2 | g.214947450A>T | CA350793850 | ABCA12,SNHG31 | c.7211T>A (p.Leu2404Ter) c.6257T>A (p.Leu2086Ter) n.7511T>A n.322-375A>T c.7220T>A (p.Leu2407Ter) n.7709T>A | |
2 | g.214947451A>C | CA350793853 | ABCA12,SNHG31 | c.7210T>G (p.Leu2404Val) c.6256T>G (p.Leu2086Val) n.7510T>G n.322-374A>C c.7219T>G (p.Leu2407Val) n.7708T>G | |
2 | g.214947451A>G | CA431319761 | ABCA12,SNHG31 | c.7210T>C (p.Leu2404=) c.6256T>C (p.Leu2086=) n.7510T>C n.322-374A>G c.7219T>C (p.Leu2407=) n.7708T>C | |
2 | g.214947451A>T | CA350793854 | ABCA12,SNHG31 | c.7210T>A (p.Leu2404Met) c.6256T>A (p.Leu2086Met) n.7510T>A n.322-374A>T c.7219T>A (p.Leu2407Met) n.7708T>A | |
2 | g.214947452G>A | CA2090717 | ABCA12,SNHG31 | c.7209C>T (p.Ala2403=) c.6255C>T (p.Ala2085=) n.7509C>T n.322-373G>A c.7218C>T (p.Ala2406=) n.7707C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214947452G>C | CA2090716 | ABCA12,SNHG31 | c.7209C>G (p.Ala2403=) c.6255C>G (p.Ala2085=) n.7509C>G n.322-373G>C c.7218C>G (p.Ala2406=) n.7707C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214947452G= | CA1327147247 | ABCA12,SNHG31 | c.7209C= (p.Ala2403=) c.6255C= (p.Ala2085=) n.7509C= n.322-373G= c.7218C= (p.Ala2406=) n.7707C= | |
2 | g.214947452G>T | CA431319765 | ABCA12,SNHG31 | c.7209C>A (p.Ala2403=) c.6255C>A (p.Ala2085=) n.7509C>A n.322-373G>T c.7218C>A (p.Ala2406=) n.7707C>A | |
2 | g.214947453G>A | CA350793855 | ABCA12,SNHG31 | c.7208C>T (p.Ala2403Val) c.6254C>T (p.Ala2085Val) n.7508C>T n.322-372G>A c.7217C>T (p.Ala2406Val) n.7706C>T | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.214947453G>C | CA350793856 | ABCA12,SNHG31 | c.7208C>G (p.Ala2403Gly) c.6254C>G (p.Ala2085Gly) n.7508C>G n.322-372G>C c.7217C>G (p.Ala2406Gly) n.7706C>G | |
2 | g.214947453G= | CA1327147248 | ABCA12,SNHG31 | c.7208C= (p.Ala2403=) c.6254C= (p.Ala2085=) n.7508C= n.322-372G= c.7217C= (p.Ala2406=) n.7706C= | |
2 | g.214947453G>T | CA350793857 | ABCA12,SNHG31 | c.7208C>A (p.Ala2403Asp) c.6254C>A (p.Ala2085Asp) n.7508C>A n.322-372G>T c.7217C>A (p.Ala2406Asp) n.7706C>A | |
2 | g.214947454C>A | CA350793858 | ABCA12,SNHG31 | c.7207G>T (p.Ala2403Ser) c.6253G>T (p.Ala2085Ser) n.7507G>T n.322-371C>A c.7216G>T (p.Ala2406Ser) n.7705G>T | COSMIC |
2 | g.214947454C= | CA1327147249 | ABCA12,SNHG31 | c.7207G= (p.Ala2403=) c.6253G= (p.Ala2085=) n.7507G= n.322-371C= c.7216G= (p.Ala2406=) n.7705G= | |
2 | g.214947454C>G | CA350793859 | ABCA12,SNHG31 | c.7207G>C (p.Ala2403Pro) c.6253G>C (p.Ala2085Pro) n.7507G>C n.322-371C>G c.7216G>C (p.Ala2406Pro) n.7705G>C | gnomAD v4 |
2 | g.214947454C>T | CA2090718 | ABCA12,SNHG31 | c.7207G>A (p.Ala2403Thr) c.6253G>A (p.Ala2085Thr) n.7507G>A n.322-371C>T c.7216G>A (p.Ala2406Thr) n.7705G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214947455C>A | CA431319775 | ABCA12,SNHG31 | c.7206G>T (p.Leu2402=) c.6252G>T (p.Leu2084=) n.7506G>T n.322-370C>A c.7215G>T (p.Leu2405=) n.7704G>T | |
2 | g.214947455C>G | CA431319773 | ABCA12,SNHG31 | c.7206G>C (p.Leu2402=) c.6252G>C (p.Leu2084=) n.7506G>C n.322-370C>G c.7215G>C (p.Leu2405=) n.7704G>C | |
2 | g.214947455C>T | CA431319772 | ABCA12,SNHG31 | c.7206G>A (p.Leu2402=) c.6252G>A (p.Leu2084=) n.7506G>A n.322-370C>T c.7215G>A (p.Leu2405=) n.7704G>A | |
2 | g.214947456A>C | CA350793860 | ABCA12,SNHG31 | c.7205T>G (p.Leu2402Arg) c.6251T>G (p.Leu2084Arg) n.7505T>G n.322-369A>C c.7214T>G (p.Leu2405Arg) n.7703T>G | |
2 | g.214947456A>G | CA350793861 | ABCA12,SNHG31 | c.7205T>C (p.Leu2402Pro) c.6251T>C (p.Leu2084Pro) n.7505T>C n.322-369A>G c.7214T>C (p.Leu2405Pro) n.7703T>C | |
2 | g.214947456A>T | CA350793862 | ABCA12,SNHG31 | c.7205T>A (p.Leu2402Gln) c.6251T>A (p.Leu2084Gln) n.7505T>A n.322-369A>T c.7214T>A (p.Leu2405Gln) n.7703T>A | |
2 | g.214947457G>A | CA431319778 | ABCA12,SNHG31 | c.7204C>T (p.Leu2402=) c.6250C>T (p.Leu2084=) n.7504C>T n.322-368G>A c.7213C>T (p.Leu2405=) n.7702C>T | |
2 | g.214947457G>C | CA350793864 | ABCA12,SNHG31 | c.7204C>G (p.Leu2402Val) c.6250C>G (p.Leu2084Val) n.7504C>G n.322-368G>C c.7213C>G (p.Leu2405Val) n.7702C>G | |
2 | g.214947457G>T | CA350793863 | ABCA12,SNHG31 | c.7204C>A (p.Leu2402Met) c.6250C>A (p.Leu2084Met) n.7504C>A n.322-368G>T c.7213C>A (p.Leu2405Met) n.7702C>A | |
2 | g.214947458T>A | CA431319781 | ABCA12,SNHG31 | c.7203A>T (p.Ala2401=) c.6249A>T (p.Ala2083=) n.7503A>T n.322-367T>A c.7212A>T (p.Ala2404=) n.7701A>T | |
2 | g.214947458T>C | CA431319785 | ABCA12,SNHG31 | c.7203A>G (p.Ala2401=) c.6249A>G (p.Ala2083=) n.7503A>G n.322-367T>C c.7212A>G (p.Ala2404=) n.7701A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214947458T>G | CA431319783 | ABCA12,SNHG31 | c.7203A>C (p.Ala2401=) c.6249A>C (p.Ala2083=) n.7503A>C n.322-367T>G c.7212A>C (p.Ala2404=) n.7701A>C | |
2 | g.214947458T= | CA1327147250 | ABCA12,SNHG31 | c.7203A= (p.Ala2401=) c.6249A= (p.Ala2083=) n.7503A= n.322-367T= c.7212A= (p.Ala2404=) n.7701A= | |
2 | g.214947459G>A | CA350793865 | ABCA12,SNHG31 | c.7202C>T (p.Ala2401Val) c.6248C>T (p.Ala2083Val) n.7502C>T n.322-366G>A c.7211C>T (p.Ala2404Val) n.7700C>T | |
2 | g.214947459G>C | CA350793866 | ABCA12,SNHG31 | c.7202C>G (p.Ala2401Gly) c.6248C>G (p.Ala2083Gly) n.7502C>G n.322-366G>C c.7211C>G (p.Ala2404Gly) n.7700C>G | |
2 | g.214947459G>T | CA350793867 | ABCA12,SNHG31 | c.7202C>A (p.Ala2401Glu) c.6248C>A (p.Ala2083Glu) n.7502C>A n.322-366G>T c.7211C>A (p.Ala2404Glu) n.7700C>A | |
2 | g.214947460C>A | CA350793868 | ABCA12,SNHG31 | c.7201G>T (p.Ala2401Ser) c.6247G>T (p.Ala2083Ser) n.7501G>T n.322-365C>A c.7210G>T (p.Ala2404Ser) n.7699G>T | |
2 | g.214947460C>G | CA350793869 | ABCA12,SNHG31 | c.7201G>C (p.Ala2401Pro) c.6247G>C (p.Ala2083Pro) n.7501G>C n.322-365C>G c.7210G>C (p.Ala2404Pro) n.7699G>C | |
2 | g.214947460C>T | CA350793870 | ABCA12,SNHG31 | c.7201G>A (p.Ala2401Thr) c.6247G>A (p.Ala2083Thr) n.7501G>A n.322-365C>T c.7210G>A (p.Ala2404Thr) n.7699G>A | |
2 | g.214947461A>C | CA431319790 | ABCA12,SNHG31 | c.7200T>G (p.Thr2400=) c.6246T>G (p.Thr2082=) n.7500T>G n.322-364A>C c.7209T>G (p.Thr2403=) n.7698T>G | |
2 | g.214947461A>G | CA431319792 | ABCA12,SNHG31 | c.7200T>C (p.Thr2400=) c.6246T>C (p.Thr2082=) n.7500T>C n.322-364A>G c.7209T>C (p.Thr2403=) n.7698T>C | |
2 | g.214947461A>T | CA431319794 | ABCA12,SNHG31 | c.7200T>A (p.Thr2400=) c.6246T>A (p.Thr2082=) n.7500T>A n.322-364A>T c.7209T>A (p.Thr2403=) n.7698T>A | |
2 | g.214947462G>A | CA350793873 | ABCA12,SNHG31 | c.7199C>T (p.Thr2400Ile) c.6245C>T (p.Thr2082Ile) n.7499C>T n.322-363G>A c.7208C>T (p.Thr2403Ile) n.7697C>T | |
2 | g.214947462G>C | CA350793872 | ABCA12,SNHG31 | c.7199C>G (p.Thr2400Ser) c.6245C>G (p.Thr2082Ser) n.7499C>G n.322-363G>C c.7208C>G (p.Thr2403Ser) n.7697C>G | |
2 | g.214947462G>T | CA350793871 | ABCA12,SNHG31 | c.7199C>A (p.Thr2400Asn) c.6245C>A (p.Thr2082Asn) n.7499C>A n.322-363G>T c.7208C>A (p.Thr2403Asn) n.7697C>A | |
2 | g.214947463T>A | CA350793874 | ABCA12,SNHG31 | c.7198A>T (p.Thr2400Ser) c.6244A>T (p.Thr2082Ser) n.7498A>T n.322-362T>A c.7207A>T (p.Thr2403Ser) n.7696A>T | |
2 | g.214947463T>C | CA350793875 | ABCA12,SNHG31 | c.7198A>G (p.Thr2400Ala) c.6244A>G (p.Thr2082Ala) n.7498A>G n.322-362T>C c.7207A>G (p.Thr2403Ala) n.7696A>G | |
2 | g.214947463T>G | CA350793876 | ABCA12,SNHG31 | c.7198A>C (p.Thr2400Pro) c.6244A>C (p.Thr2082Pro) n.7498A>C n.322-362T>G c.7207A>C (p.Thr2403Pro) n.7696A>C | |
2 | g.214947464G>A | CA431319799 | ABCA12,SNHG31 | c.7197C>T (p.Ser2399=) c.6243C>T (p.Ser2081=) n.7497C>T n.322-361G>A c.7206C>T (p.Ser2402=) n.7695C>T | |
2 | g.214947464G>C | CA431319800 | ABCA12,SNHG31 | c.7197C>G (p.Ser2399=) c.6243C>G (p.Ser2081=) n.7497C>G n.322-361G>C c.7206C>G (p.Ser2402=) n.7695C>G | |
2 | g.214947464G>T | CA431319802 | ABCA12,SNHG31 | c.7197C>A (p.Ser2399=) c.6243C>A (p.Ser2081=) n.7497C>A n.322-361G>T c.7206C>A (p.Ser2402=) n.7695C>A | |
2 | g.214947465G>A | CA350793877 | ABCA12,SNHG31 | c.7196C>T (p.Ser2399Phe) c.6242C>T (p.Ser2081Phe) n.7496C>T n.322-360G>A c.7205C>T (p.Ser2402Phe) n.7694C>T | gnomAD v4 |
2 | g.214947465G>C | CA350793878 | ABCA12,SNHG31 | c.7196C>G (p.Ser2399Cys) c.6242C>G (p.Ser2081Cys) n.7496C>G n.322-360G>C c.7205C>G (p.Ser2402Cys) n.7694C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214947465G= | CA1327147251 | ABCA12,SNHG31 | c.7196C= (p.Ser2399=) c.6242C= (p.Ser2081=) n.7496C= n.322-360G= c.7205C= (p.Ser2402=) n.7694C= | |
2 | g.214947465G>T | CA350793879 | ABCA12,SNHG31 | c.7196C>A (p.Ser2399Tyr) c.6242C>A (p.Ser2081Tyr) n.7496C>A n.322-360G>T c.7205C>A (p.Ser2402Tyr) n.7694C>A | |
2 | g.214947466A>C | CA350793880 | ABCA12,SNHG31 | c.7195T>G (p.Ser2399Ala) c.6241T>G (p.Ser2081Ala) n.7495T>G n.322-359A>C c.7204T>G (p.Ser2402Ala) n.7693T>G | |
2 | g.214947466A>G | CA350793882 | ABCA12,SNHG31 | c.7195T>C (p.Ser2399Pro) c.6241T>C (p.Ser2081Pro) n.7495T>C n.322-359A>G c.7204T>C (p.Ser2402Pro) n.7693T>C | |
2 | g.214947466A>T | CA350793881 | ABCA12,SNHG31 | c.7195T>A (p.Ser2399Thr) c.6241T>A (p.Ser2081Thr) n.7495T>A n.322-359A>T c.7204T>A (p.Ser2402Thr) n.7693T>A | gnomAD v4 |
2 | g.214947467T>A | CA350793883 | ABCA12,SNHG31 | c.7194A>T (p.Leu2398Phe) c.6240A>T (p.Leu2080Phe) n.7494A>T n.322-358T>A c.7203A>T (p.Leu2401Phe) n.7692A>T | |
2 | g.214947467T>C | CA431319807 | ABCA12,SNHG31 | c.7194A>G (p.Leu2398=) c.6240A>G (p.Leu2080=) n.7494A>G n.322-358T>C c.7203A>G (p.Leu2401=) n.7692A>G | |
2 | g.214947467T>G | CA350793884 | ABCA12,SNHG31 | c.7194A>C (p.Leu2398Phe) c.6240A>C (p.Leu2080Phe) n.7494A>C n.322-358T>G c.7203A>C (p.Leu2401Phe) n.7692A>C | |
2 | g.214947468A>C | CA350793885 | ABCA12,SNHG31 | c.7193T>G (p.Leu2398Ter) c.6239T>G (p.Leu2080Ter) n.7493T>G n.322-357A>C c.7202T>G (p.Leu2401Ter) n.7691T>G | |
2 | g.214947468A>G | CA350793886 | ABCA12,SNHG31 | c.7193T>C (p.Leu2398Ser) c.6239T>C (p.Leu2080Ser) n.7493T>C n.322-357A>G c.7202T>C (p.Leu2401Ser) n.7691T>C | |
2 | g.214947468A>T | CA350793887 | ABCA12,SNHG31 | c.7193T>A (p.Leu2398Ter) c.6239T>A (p.Leu2080Ter) n.7493T>A n.322-357A>T c.7202T>A (p.Leu2401Ter) n.7691T>A | |
2 | g.214947469A>C | CA350793888 | ABCA12,SNHG31 | c.7192T>G (p.Leu2398Val) c.6238T>G (p.Leu2080Val) n.7492T>G n.322-356A>C c.7201T>G (p.Leu2401Val) n.7690T>G | |
2 | g.214947469A>G | CA431319808 | ABCA12,SNHG31 | c.7192T>C (p.Leu2398=) c.6238T>C (p.Leu2080=) n.7492T>C n.322-356A>G c.7201T>C (p.Leu2401=) n.7690T>C | |
2 | g.214947469A>T | CA350793889 | ABCA12,SNHG31 | c.7192T>A (p.Leu2398Ile) c.6238T>A (p.Leu2080Ile) n.7492T>A n.322-356A>T c.7201T>A (p.Leu2401Ile) n.7690T>A | |
2 | g.214947470T>A | CA350793890 | ABCA12,SNHG31 | c.7191A>T (p.Lys2397Asn) c.6237A>T (p.Lys2079Asn) n.7491A>T n.322-355T>A c.7200A>T (p.Lys2400Asn) n.7689A>T | |
2 | g.214947470T>C | CA431319809 | ABCA12,SNHG31 | c.7191A>G (p.Lys2397=) c.6237A>G (p.Lys2079=) n.7491A>G n.322-355T>C c.7200A>G (p.Lys2400=) n.7689A>G | |
2 | g.214947470T>G | CA350793891 | ABCA12,SNHG31 | c.7191A>C (p.Lys2397Asn) c.6237A>C (p.Lys2079Asn) n.7491A>C n.322-355T>G c.7200A>C (p.Lys2400Asn) n.7689A>C | |
2 | g.214947471T>A | CA350793892 | ABCA12,SNHG31 | c.7190A>T (p.Lys2397Ile) c.6236A>T (p.Lys2079Ile) n.7490A>T n.322-354T>A c.7199A>T (p.Lys2400Ile) n.7688A>T | |
2 | g.214947471T>C | CA350793893 | ABCA12,SNHG31 | c.7190A>G (p.Lys2397Arg) c.6236A>G (p.Lys2079Arg) n.7490A>G n.322-354T>C c.7199A>G (p.Lys2400Arg) n.7688A>G | |
2 | g.214947471T>G | CA350793894 | ABCA12,SNHG31 | c.7190A>C (p.Lys2397Thr) c.6236A>C (p.Lys2079Thr) n.7490A>C n.322-354T>G c.7199A>C (p.Lys2400Thr) n.7688A>C | |
2 | g.214947472T>A | CA350793897 | ABCA12,SNHG31 | c.7189A>T (p.Lys2397Ter) c.6235A>T (p.Lys2079Ter) n.7489A>T n.322-353T>A c.7198A>T (p.Lys2400Ter) n.7687A>T | |
2 | g.214947472T>C | CA350793895 | ABCA12,SNHG31 | c.7189A>G (p.Lys2397Glu) c.6235A>G (p.Lys2079Glu) n.7489A>G n.322-353T>C c.7198A>G (p.Lys2400Glu) n.7687A>G | |
2 | g.214947472T>G | CA350793896 | ABCA12,SNHG31 | c.7189A>C (p.Lys2397Gln) c.6235A>C (p.Lys2079Gln) n.7489A>C n.322-353T>G c.7198A>C (p.Lys2400Gln) n.7687A>C | |
2 | g.214947473T>A | CA350793898 | ABCA12,SNHG31 | c.7188A>T (p.Arg2396Ser) c.6234A>T (p.Arg2078Ser) n.7488A>T n.322-352T>A c.7197A>T (p.Arg2399Ser) n.7686A>T | |
2 | g.214947473T>C | CA431319810 | ABCA12,SNHG31 | c.7188A>G (p.Arg2396=) c.6234A>G (p.Arg2078=) n.7488A>G n.322-352T>C c.7197A>G (p.Arg2399=) n.7686A>G | |
2 | g.214947473T>G | CA350793899 | ABCA12,SNHG31 | c.7188A>C (p.Arg2396Ser) c.6234A>C (p.Arg2078Ser) n.7488A>C n.322-352T>G c.7197A>C (p.Arg2399Ser) n.7686A>C | |
2 | g.214947474C>A | CA350793900 | ABCA12,SNHG31 | c.7187G>T (p.Arg2396Ile) c.6233G>T (p.Arg2078Ile) n.7487G>T n.322-351C>A c.7196G>T (p.Arg2399Ile) n.7685G>T | |
2 | g.214947474C= | CA1327147252 | ABCA12,SNHG31 | c.7187G= (p.Arg2396=) c.6233G= (p.Arg2078=) n.7487G= n.322-351C= c.7196G= (p.Arg2399=) n.7685G= | |
2 | g.214947474C>G | CA350793901 | ABCA12,SNHG31 | c.7187G>C (p.Arg2396Thr) c.6233G>C (p.Arg2078Thr) n.7487G>C n.322-351C>G c.7196G>C (p.Arg2399Thr) n.7685G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214947474C>T | CA350793902 | ABCA12,SNHG31 | c.7187G>A (p.Arg2396Lys) c.6233G>A (p.Arg2078Lys) n.7487G>A n.322-351C>T c.7196G>A (p.Arg2399Lys) n.7685G>A | COSMIC COSMIC |
2 | g.214947474_214947475delinsCT | CA1327147253 | ABCA12,SNHG31 | c.7186_7187delinsAG (p.Arg2396=) c.6232_6233delinsAG (p.Arg2078=) n.7486_7487delinsAG n.322-351_322-350delinsCT c.7195_7196delinsAG (p.Arg2399=) n.7684_7685delinsAG | |
2 | g.214947475T>A | CA350793903 | ABCA12,SNHG31 | c.7186A>T (p.Arg2396Ter) c.6232A>T (p.Arg2078Ter) n.7486A>T n.322-350T>A c.7195A>T (p.Arg2399Ter) n.7684A>T | |
2 | g.214947475T>C | CA350793904 | ABCA12,SNHG31 | c.7186A>G (p.Arg2396Gly) c.6232A>G (p.Arg2078Gly) n.7486A>G n.322-350T>C c.7195A>G (p.Arg2399Gly) n.7684A>G | dbSNP gnomAD v4 |
2 | g.214947475T>G | CA431319811 | ABCA12,SNHG31 | c.7186A>C (p.Arg2396=) c.6232A>C (p.Arg2078=) n.7486A>C n.322-350T>G c.7195A>C (p.Arg2399=) n.7684A>C | |
2 | g.214947475T= | CA1327147254 | ABCA12,SNHG31 | c.7186A= (p.Arg2396=) c.6232A= (p.Arg2078=) n.7486A= n.322-350T= c.7195A= (p.Arg2399=) n.7684A= | |
2 | g.214947479del | CA916772173 | ABCA12,SNHG31 | c.7186del (p.Arg2396GlufsTer9) c.6232del (p.Arg2078GlufsTer9) n.7486del n.322-346del c.7195del (p.Arg2399GlufsTer9) n.7684del | dbSNP |
2 | g.214947476T>A | CA350793906 | ABCA12,SNHG31 | c.7185A>T (p.Lys2395Asn) c.6231A>T (p.Lys2077Asn) n.7485A>T n.322-349T>A c.7194A>T (p.Lys2398Asn) n.7683A>T | |
2 | g.214947476T>C | CA431319812 | ABCA12,SNHG31 | c.7185A>G (p.Lys2395=) c.6231A>G (p.Lys2077=) n.7485A>G n.322-349T>C c.7194A>G (p.Lys2398=) n.7683A>G | |
2 | g.214947476T>G | CA350793905 | ABCA12,SNHG31 | c.7185A>C (p.Lys2395Asn) c.6231A>C (p.Lys2077Asn) n.7485A>C n.322-349T>G c.7194A>C (p.Lys2398Asn) n.7683A>C | |
2 | g.214947477T>A | CA350793907 | ABCA12,SNHG31 | c.7184A>T (p.Lys2395Ile) c.6230A>T (p.Lys2077Ile) n.7484A>T n.322-348T>A c.7193A>T (p.Lys2398Ile) n.7682A>T | |
2 | g.214947477T>C | CA350793908 | ABCA12,SNHG31 | c.7184A>G (p.Lys2395Arg) c.6230A>G (p.Lys2077Arg) n.7484A>G n.322-348T>C c.7193A>G (p.Lys2398Arg) n.7682A>G | |
2 | g.214947477T>G | CA350793909 | ABCA12,SNHG31 | c.7184A>C (p.Lys2395Thr) c.6230A>C (p.Lys2077Thr) n.7484A>C n.322-348T>G c.7193A>C (p.Lys2398Thr) n.7682A>C | |
2 | g.214947478T>A | CA350793910 | ABCA12,SNHG31 | c.7183A>T (p.Lys2395Ter) c.6229A>T (p.Lys2077Ter) n.7483A>T n.322-347T>A c.7192A>T (p.Lys2398Ter) n.7681A>T | dbSNP |
2 | g.214947478T>C | CA350793911 | ABCA12,SNHG31 | c.7183A>G (p.Lys2395Glu) c.6229A>G (p.Lys2077Glu) n.7483A>G n.322-347T>C c.7192A>G (p.Lys2398Glu) n.7681A>G | dbSNP gnomAD v4 |
2 | g.214947478T>G | CA350793912 | ABCA12,SNHG31 | c.7183A>C (p.Lys2395Gln) c.6229A>C (p.Lys2077Gln) n.7483A>C n.322-347T>G c.7192A>C (p.Lys2398Gln) n.7681A>C | |
2 | g.214947478T= | CA1327147255 | ABCA12,SNHG31 | c.7183A= (p.Lys2395=) c.6229A= (p.Lys2077=) n.7483A= n.322-347T= c.7192A= (p.Lys2398=) n.7681A= | |
2 | g.214947479T>A | CA431319813 | ABCA12,SNHG31 | c.7182A>T (p.Thr2394=) c.6228A>T (p.Thr2076=) n.7482A>T n.322-346T>A c.7191A>T (p.Thr2397=) n.7680A>T | ClinVar |
2 | g.214947479T>C | CA431319814 | ABCA12,SNHG31 | c.7182A>G (p.Thr2394=) c.6228A>G (p.Thr2076=) n.7482A>G n.322-346T>C c.7191A>G (p.Thr2397=) n.7680A>G | |
2 | g.214947479T>G | CA431319815 | ABCA12,SNHG31 | c.7182A>C (p.Thr2394=) c.6228A>C (p.Thr2076=) n.7482A>C n.322-346T>G c.7191A>C (p.Thr2397=) n.7680A>C | |
2 | g.214947480G>A | CA350793913 | ABCA12,SNHG31 | c.7181C>T (p.Thr2394Ile) c.6227C>T (p.Thr2076Ile) n.7481C>T n.322-345G>A c.7190C>T (p.Thr2397Ile) n.7679C>T | |
2 | g.214947480G>C | CA350793915 | ABCA12,SNHG31 | c.7181C>G (p.Thr2394Arg) c.6227C>G (p.Thr2076Arg) n.7481C>G n.322-345G>C c.7190C>G (p.Thr2397Arg) n.7679C>G | |
2 | g.214947480G= | CA1327147256 | ABCA12,SNHG31 | c.7181C= (p.Thr2394=) c.6227C= (p.Thr2076=) n.7481C= n.322-345G= c.7190C= (p.Thr2397=) n.7679C= | |
2 | g.214947480G>T | CA350793914 | ABCA12,SNHG31 | c.7181C>A (p.Thr2394Lys) c.6227C>A (p.Thr2076Lys) n.7481C>A n.322-345G>T c.7190C>A (p.Thr2397Lys) n.7679C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214947481T>A | CA350793916 | ABCA12,SNHG31 | c.7180A>T (p.Thr2394Ser) c.6226A>T (p.Thr2076Ser) n.7480A>T n.322-344T>A c.7189A>T (p.Thr2397Ser) n.7678A>T | |
2 | g.214947481T>C | CA2090719 | ABCA12,SNHG31 | c.7180A>G (p.Thr2394Ala) c.6226A>G (p.Thr2076Ala) n.7480A>G n.322-344T>C c.7189A>G (p.Thr2397Ala) n.7678A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214947481T>G | CA350793917 | ABCA12,SNHG31 | c.7180A>C (p.Thr2394Pro) c.6226A>C (p.Thr2076Pro) n.7480A>C n.322-344T>G c.7189A>C (p.Thr2397Pro) n.7678A>C | |
2 | g.214947481T= | CA1327147257 | ABCA12,SNHG31 | c.7180A= (p.Thr2394=) c.6226A= (p.Thr2076=) n.7480A= n.322-344T= c.7189A= (p.Thr2397=) n.7678A= | |
2 | g.214947482G>A | CA431319816 | ABCA12,SNHG31 | c.7179C>T (p.Gly2393=) c.6225C>T (p.Gly2075=) n.7479C>T n.322-343G>A c.7188C>T (p.Gly2396=) n.7677C>T | |
2 | g.214947482G>C | CA431319817 | ABCA12,SNHG31 | c.7179C>G (p.Gly2393=) c.6225C>G (p.Gly2075=) n.7479C>G n.322-343G>C c.7188C>G (p.Gly2396=) n.7677C>G | |
2 | g.214947482G>T | CA431319818 | ABCA12,SNHG31 | c.7179C>A (p.Gly2393=) c.6225C>A (p.Gly2075=) n.7479C>A n.322-343G>T c.7188C>A (p.Gly2396=) n.7677C>A | |
2 | g.214947483C>A | CA350793918 | ABCA12,SNHG31 | c.7178G>T (p.Gly2393Val) c.6224G>T (p.Gly2075Val) n.7478G>T n.322-342C>A c.7187G>T (p.Gly2396Val) n.7676G>T | dbSNP |
2 | g.214947483C= | CA1327147258 | ABCA12,SNHG31 | c.7178G= (p.Gly2393=) c.6224G= (p.Gly2075=) n.7478G= n.322-342C= c.7187G= (p.Gly2396=) n.7676G= | |
2 | g.214947483C>G | CA350793919 | ABCA12,SNHG31 | c.7178G>C (p.Gly2393Ala) c.6224G>C (p.Gly2075Ala) n.7478G>C n.322-342C>G c.7187G>C (p.Gly2396Ala) n.7676G>C | gnomAD v4 |
2 | g.214947483C>T | CA350793920 | ABCA12,SNHG31 | c.7178G>A (p.Gly2393Asp) c.6224G>A (p.Gly2075Asp) n.7478G>A n.322-342C>T c.7187G>A (p.Gly2396Asp) n.7676G>A | |
2 | g.214947484C>A | CA350793921 | ABCA12,SNHG31 | c.7177G>T (p.Gly2393Cys) c.6223G>T (p.Gly2075Cys) n.7477G>T n.322-341C>A c.7186G>T (p.Gly2396Cys) n.7675G>T | |
2 | g.214947484C>G | CA350793922 | ABCA12,SNHG31 | c.7177G>C (p.Gly2393Arg) c.6223G>C (p.Gly2075Arg) n.7477G>C n.322-341C>G c.7186G>C (p.Gly2396Arg) n.7675G>C | |
2 | g.214947484C>T | CA350793923 | ABCA12,SNHG31 | c.7177G>A (p.Gly2393Ser) c.6223G>A (p.Gly2075Ser) n.7477G>A n.322-341C>T c.7186G>A (p.Gly2396Ser) n.7675G>A | |
2 | g.214947485A= | CA1327147259 | ABCA12,SNHG31 | c.7176T= (p.Tyr2392=) c.6222T= (p.Tyr2074=) n.7476T= n.322-340A= c.7185T= (p.Tyr2395=) n.7674T= | |
2 | g.214947485A>C | CA350793924 | ABCA12,SNHG31 | c.7176T>G (p.Tyr2392Ter) c.6222T>G (p.Tyr2074Ter) n.7476T>G n.322-340A>C c.7185T>G (p.Tyr2395Ter) n.7674T>G | |
2 | g.214947485A>G | CA2090720 | ABCA12,SNHG31 | c.7176T>C (p.Tyr2392=) c.6222T>C (p.Tyr2074=) n.7476T>C n.322-340A>G c.7185T>C (p.Tyr2395=) n.7674T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214947485A>T | CA350793925 | ABCA12,SNHG31 | c.7176T>A (p.Tyr2392Ter) c.6222T>A (p.Tyr2074Ter) n.7476T>A n.322-340A>T c.7185T>A (p.Tyr2395Ter) n.7674T>A | |
2 | g.214947486T>A | CA350793928 | ABCA12,SNHG31 | c.7175A>T (p.Tyr2392Phe) c.6221A>T (p.Tyr2074Phe) n.7475A>T n.322-339T>A c.7184A>T (p.Tyr2395Phe) n.7673A>T | |
2 | g.214947486T>C | CA350793926 | ABCA12,SNHG31 | c.7175A>G (p.Tyr2392Cys) c.6221A>G (p.Tyr2074Cys) n.7475A>G n.322-339T>C c.7184A>G (p.Tyr2395Cys) n.7673A>G | gnomAD v4 |
2 | g.214947486T>G | CA350793927 | ABCA12,SNHG31 | c.7175A>C (p.Tyr2392Ser) c.6221A>C (p.Tyr2074Ser) n.7475A>C n.322-339T>G c.7184A>C (p.Tyr2395Ser) n.7673A>C | |
2 | g.214947487A>C | CA350793929 | ABCA12,SNHG31 | c.7174T>G (p.Tyr2392Asp) c.6220T>G (p.Tyr2074Asp) n.7474T>G n.322-338A>C c.7183T>G (p.Tyr2395Asp) n.7672T>G | |
2 | g.214947487A>G | CA350793930 | ABCA12,SNHG31 | c.7174T>C (p.Tyr2392His) c.6220T>C (p.Tyr2074His) n.7474T>C n.322-338A>G c.7183T>C (p.Tyr2395His) n.7672T>C | |
2 | g.214947487A>T | CA350793931 | ABCA12,SNHG31 | c.7174T>A (p.Tyr2392Asn) c.6220T>A (p.Tyr2074Asn) n.7474T>A n.322-338A>T c.7183T>A (p.Tyr2395Asn) n.7672T>A | |
2 | g.214947488A>C | CA350793932 | ABCA12,SNHG31 | c.7173T>G (p.Ser2391Arg) c.6219T>G (p.Ser2073Arg) n.7473T>G n.322-337A>C c.7182T>G (p.Ser2394Arg) n.7671T>G | |
2 | g.214947488A>G | CA431319819 | ABCA12,SNHG31 | c.7173T>C (p.Ser2391=) c.6219T>C (p.Ser2073=) n.7473T>C n.322-337A>G c.7182T>C (p.Ser2394=) n.7671T>C | gnomAD v4 COSMIC COSMIC |
2 | g.214947488A>T | CA350793933 | ABCA12,SNHG31 | c.7173T>A (p.Ser2391Arg) c.6219T>A (p.Ser2073Arg) n.7473T>A n.322-337A>T c.7182T>A (p.Ser2394Arg) n.7671T>A | |
2 | g.214947489C>A | CA350793934 | ABCA12,SNHG31 | c.7172G>T (p.Ser2391Ile) c.6218G>T (p.Ser2073Ile) n.7472G>T n.322-336C>A c.7181G>T (p.Ser2394Ile) n.7670G>T | ClinVar |
2 | g.214947489C= | CA1327147260 | ABCA12,SNHG31 | c.7172G= (p.Ser2391=) c.6218G= (p.Ser2073=) n.7472G= n.322-336C= c.7181G= (p.Ser2394=) n.7670G= | |
2 | g.214947489C>G | CA350793935 | ABCA12,SNHG31 | c.7172G>C (p.Ser2391Thr) c.6218G>C (p.Ser2073Thr) n.7472G>C n.322-336C>G c.7181G>C (p.Ser2394Thr) n.7670G>C | gnomAD v4 |
2 | g.214947489C>T | CA350793936 | ABCA12,SNHG31 | c.7172G>A (p.Ser2391Asn) c.6218G>A (p.Ser2073Asn) n.7472G>A n.322-336C>T c.7181G>A (p.Ser2394Asn) n.7670G>A | ClinVar dbSNP gnomAD v4 |
2 | g.214947490T>A | CA350793937 | ABCA12,SNHG31 | c.7171A>T (p.Ser2391Cys) c.6217A>T (p.Ser2073Cys) n.7471A>T n.322-335T>A c.7180A>T (p.Ser2394Cys) n.7669A>T | |
2 | g.214947490T>C | CA350793938 | ABCA12,SNHG31 | c.7171A>G (p.Ser2391Gly) c.6217A>G (p.Ser2073Gly) n.7471A>G n.322-335T>C c.7180A>G (p.Ser2394Gly) n.7669A>G | |
2 | g.214947490T>G | CA350793939 | ABCA12,SNHG31 | c.7171A>C (p.Ser2391Arg) c.6217A>C (p.Ser2073Arg) n.7471A>C n.322-335T>G c.7180A>C (p.Ser2394Arg) n.7669A>C | |
2 | g.214947491G>A | CA431319820 | ABCA12,SNHG31 | c.7170C>T (p.Cys2390=) c.6216C>T (p.Cys2072=) n.7470C>T n.322-334G>A c.7179C>T (p.Cys2393=) n.7668C>T | COSMIC COSMIC |
2 | g.214947491G>C | CA350793940 | ABCA12,SNHG31 | c.7170C>G (p.Cys2390Trp) c.6216C>G (p.Cys2072Trp) n.7470C>G n.322-334G>C c.7179C>G (p.Cys2393Trp) n.7668C>G | |
2 | g.214947491G>T | CA350793941 | ABCA12,SNHG31 | c.7170C>A (p.Cys2390Ter) c.6216C>A (p.Cys2072Ter) n.7470C>A n.322-334G>T c.7179C>A (p.Cys2393Ter) n.7668C>A | |
2 | g.214947492C>A | CA350793944 | ABCA12,SNHG31 | c.7169G>T (p.Cys2390Phe) c.6215G>T (p.Cys2072Phe) n.7469G>T n.322-333C>A c.7178G>T (p.Cys2393Phe) n.7667G>T | |
2 | g.214947492C>G | CA350793942 | ABCA12,SNHG31 | c.7169G>C (p.Cys2390Ser) c.6215G>C (p.Cys2072Ser) n.7469G>C n.322-333C>G c.7178G>C (p.Cys2393Ser) n.7667G>C | |
2 | g.214947492C>T | CA350793943 | ABCA12,SNHG31 | c.7169G>A (p.Cys2390Tyr) c.6215G>A (p.Cys2072Tyr) n.7469G>A n.322-333C>T c.7178G>A (p.Cys2393Tyr) n.7667G>A | |
2 | g.214947493A>C | CA350793945 | ABCA12,SNHG31 | c.7168T>G (p.Cys2390Gly) c.6214T>G (p.Cys2072Gly) n.7468T>G n.322-332A>C c.7177T>G (p.Cys2393Gly) n.7666T>G | |
2 | g.214947493A>G | CA350793946 | ABCA12,SNHG31 | c.7168T>C (p.Cys2390Arg) c.6214T>C (p.Cys2072Arg) n.7468T>C n.322-332A>G c.7177T>C (p.Cys2393Arg) n.7666T>C | |
2 | g.214947493A>T | CA350793947 | ABCA12,SNHG31 | c.7168T>A (p.Cys2390Ser) c.6214T>A (p.Cys2072Ser) n.7468T>A n.322-332A>T c.7177T>A (p.Cys2393Ser) n.7666T>A | gnomAD v4 |
2 | g.214947494C>A | CA350793948 | ABCA12,SNHG31 | c.7167G>T (p.Met2389Ile) c.6213G>T (p.Met2071Ile) n.7467G>T n.322-331C>A c.7176G>T (p.Met2392Ile) n.7665G>T | |
2 | g.214947494C= | CA1327147261 | ABCA12,SNHG31 | c.7167G= (p.Met2389=) c.6213G= (p.Met2071=) n.7467G= n.322-331C= c.7176G= (p.Met2392=) n.7665G= | |
2 | g.214947494C>G | CA350793949 | ABCA12,SNHG31 | c.7167G>C (p.Met2389Ile) c.6213G>C (p.Met2071Ile) n.7467G>C n.322-331C>G c.7176G>C (p.Met2392Ile) n.7665G>C | dbSNP |
2 | g.214947494C>T | CA350793950 | ABCA12,SNHG31 | c.7167G>A (p.Met2389Ile) c.6213G>A (p.Met2071Ile) n.7467G>A n.322-331C>T c.7176G>A (p.Met2392Ile) n.7665G>A | |
2 | g.214947495A= | CA1327147262 | ABCA12,SNHG31 | c.7166T= (p.Met2389=) c.6212T= (p.Met2071=) n.7466T= n.322-330A= c.7175T= (p.Met2392=) n.7664T= | |
2 | g.214947495A>C | CA350793951 | ABCA12,SNHG31 | c.7166T>G (p.Met2389Arg) c.6212T>G (p.Met2071Arg) n.7466T>G n.322-330A>C c.7175T>G (p.Met2392Arg) n.7664T>G | dbSNP |
2 | g.214947495A>G | CA350793952 | ABCA12,SNHG31 | c.7166T>C (p.Met2389Thr) c.6212T>C (p.Met2071Thr) n.7466T>C n.322-330A>G c.7175T>C (p.Met2392Thr) n.7664T>C | |
2 | g.214947495A>T | CA350793953 | ABCA12,SNHG31 | c.7166T>A (p.Met2389Lys) c.6212T>A (p.Met2071Lys) n.7466T>A n.322-330A>T c.7175T>A (p.Met2392Lys) n.7664T>A | dbSNP |
2 | g.214947496T>A | CA350793954 | ABCA12,SNHG31 | c.7165A>T (p.Met2389Leu) c.6211A>T (p.Met2071Leu) n.7465A>T n.322-329T>A c.7174A>T (p.Met2392Leu) n.7663A>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.214947496T>C | CA65502954 | ABCA12,SNHG31 | c.7165A>G (p.Met2389Val) c.6211A>G (p.Met2071Val) n.7465A>G n.322-329T>C c.7174A>G (p.Met2392Val) n.7663A>G | dbSNP |
2 | g.214947496T>G | CA350793955 | ABCA12,SNHG31 | c.7165A>C (p.Met2389Leu) c.6211A>C (p.Met2071Leu) n.7465A>C n.322-329T>G c.7174A>C (p.Met2392Leu) n.7663A>C | |
2 | g.214947496T= | CA1327147263 | ABCA12,SNHG31 | c.7165A= (p.Met2389=) c.6211A= (p.Met2071=) n.7465A= n.322-329T= c.7174A= (p.Met2392=) n.7663A= | |
2 | g.214947497A>C | CA431319821 | ABCA12,SNHG31 | c.7164T>G (p.Ser2388=) c.6210T>G (p.Ser2070=) n.7464T>G n.322-328A>C c.7173T>G (p.Ser2391=) n.7662T>G | |
2 | g.214947497A>G | CA431319822 | ABCA12,SNHG31 | c.7164T>C (p.Ser2388=) c.6210T>C (p.Ser2070=) n.7464T>C n.322-328A>G c.7173T>C (p.Ser2391=) n.7662T>C | |
2 | g.214947497A>T | CA431319823 | ABCA12,SNHG31 | c.7164T>A (p.Ser2388=) c.6210T>A (p.Ser2070=) n.7464T>A n.322-328A>T c.7173T>A (p.Ser2391=) n.7662T>A | |
2 | g.214947497dup | CA2586971263 | ABCA12,SNHG31 | c.7164dup (p.Met2389TyrfsTer27) c.6210dup (p.Met2071TyrfsTer27) n.7464dup n.322-328dup c.7173dup (p.Met2392TyrfsTer27) n.7662dup | gnomAD v4 |
2 | g.214947498G>A | CA350793956 | ABCA12,SNHG31 | c.7163C>T (p.Ser2388Phe) c.6209C>T (p.Ser2070Phe) n.7463C>T n.322-327G>A c.7172C>T (p.Ser2391Phe) n.7661C>T | |
2 | g.214947498G>C | CA350793958 | ABCA12,SNHG31 | c.7163C>G (p.Ser2388Cys) c.6209C>G (p.Ser2070Cys) n.7463C>G n.322-327G>C c.7172C>G (p.Ser2391Cys) n.7661C>G | |
2 | g.214947498G>T | CA350793957 | ABCA12,SNHG31 | c.7163C>A (p.Ser2388Tyr) c.6209C>A (p.Ser2070Tyr) n.7463C>A n.322-327G>T c.7172C>A (p.Ser2391Tyr) n.7661C>A | |
2 | g.214947499A>C | CA350793959 | ABCA12,SNHG31 | c.7162T>G (p.Ser2388Ala) c.6208T>G (p.Ser2070Ala) n.7462T>G n.322-326A>C c.7171T>G (p.Ser2391Ala) n.7660T>G | |
2 | g.214947499A>G | CA350793961 | ABCA12,SNHG31 | c.7162T>C (p.Ser2388Pro) c.6208T>C (p.Ser2070Pro) n.7462T>C n.322-326A>G c.7171T>C (p.Ser2391Pro) n.7660T>C | |
2 | g.214947499A>T | CA350793960 | ABCA12,SNHG31 | c.7162T>A (p.Ser2388Thr) c.6208T>A (p.Ser2070Thr) n.7462T>A n.322-326A>T c.7171T>A (p.Ser2391Thr) n.7660T>A | |
2 | g.214947500G>A | CA431319824 | ABCA12,SNHG31 | c.7161C>T (p.Thr2387=) c.6207C>T (p.Thr2069=) n.7461C>T n.322-325G>A c.7170C>T (p.Thr2390=) n.7659C>T | |
2 | g.214947500G>C | CA431319826 | ABCA12,SNHG31 | c.7161C>G (p.Thr2387=) c.6207C>G (p.Thr2069=) n.7461C>G n.322-325G>C c.7170C>G (p.Thr2390=) n.7659C>G | |
2 | g.214947500G>T | CA431319825 | ABCA12,SNHG31 | c.7161C>A (p.Thr2387=) c.6207C>A (p.Thr2069=) n.7461C>A n.322-325G>T c.7170C>A (p.Thr2390=) n.7659C>A | |
2 | g.214947501G>A | CA350793962 | ABCA12,SNHG31 | c.7160C>T (p.Thr2387Ile) c.6206C>T (p.Thr2069Ile) n.7460C>T n.322-324G>A c.7169C>T (p.Thr2390Ile) n.7658C>T | gnomAD v4 |
2 | g.214947501G>C | CA350793963 | ABCA12,SNHG31 | c.7160C>G (p.Thr2387Ser) c.6206C>G (p.Thr2069Ser) n.7460C>G n.322-324G>C c.7169C>G (p.Thr2390Ser) n.7658C>G | |
2 | g.214947501G= | CA1327147264 | ABCA12,SNHG31 | c.7160C= (p.Thr2387=) c.6206C= (p.Thr2069=) n.7460C= n.322-324G= c.7169C= (p.Thr2390=) n.7658C= | |
2 | g.214947501G>T | CA350793964 | ABCA12,SNHG31 | c.7160C>A (p.Thr2387Asn) c.6206C>A (p.Thr2069Asn) n.7460C>A n.322-324G>T c.7169C>A (p.Thr2390Asn) n.7658C>A | dbSNP |
2 | g.214947502T>A | CA350793965 | ABCA12,SNHG31 | c.7159A>T (p.Thr2387Ser) c.6205A>T (p.Thr2069Ser) n.7459A>T n.322-323T>A c.7168A>T (p.Thr2390Ser) n.7657A>T | |
2 | g.214947502T>C | CA350793966 | ABCA12,SNHG31 | c.7159A>G (p.Thr2387Ala) c.6205A>G (p.Thr2069Ala) n.7459A>G n.322-323T>C c.7168A>G (p.Thr2390Ala) n.7657A>G | |
2 | g.214947502T>G | CA350793967 | ABCA12,SNHG31 | c.7159A>C (p.Thr2387Pro) c.6205A>C (p.Thr2069Pro) n.7459A>C n.322-323T>G c.7168A>C (p.Thr2390Pro) n.7657A>C | |
2 | g.214947503A>C | CA431319827 | ABCA12,SNHG31 | c.7158T>G (p.Ala2386=) c.6204T>G (p.Ala2068=) n.7458T>G n.322-322A>C c.7167T>G (p.Ala2389=) n.7656T>G | |
2 | g.214947503A>G | CA431319828 | ABCA12,SNHG31 | c.7158T>C (p.Ala2386=) c.6204T>C (p.Ala2068=) n.7458T>C n.322-322A>G c.7167T>C (p.Ala2389=) n.7656T>C | |
2 | g.214947503A>T | CA431319829 | ABCA12,SNHG31 | c.7158T>A (p.Ala2386=) c.6204T>A (p.Ala2068=) n.7458T>A n.322-322A>T c.7167T>A (p.Ala2389=) n.7656T>A | |
2 | g.214947504G>A | CA350793970 | ABCA12,SNHG31 | c.7157C>T (p.Ala2386Val) c.6203C>T (p.Ala2068Val) n.7457C>T n.322-321G>A c.7166C>T (p.Ala2389Val) n.7655C>T | dbSNP gnomAD v4 |
2 | g.214947504G>C | CA350793968 | ABCA12,SNHG31 | c.7157C>G (p.Ala2386Gly) c.6203C>G (p.Ala2068Gly) n.7457C>G n.322-321G>C c.7166C>G (p.Ala2389Gly) n.7655C>G | gnomAD v4 |
2 | g.214947504G= | CA1327147265 | ABCA12,SNHG31 | c.7157C= (p.Ala2386=) c.6203C= (p.Ala2068=) n.7457C= n.322-321G= c.7166C= (p.Ala2389=) n.7655C= | |
2 | g.214947504G>T | CA350793969 | ABCA12,SNHG31 | c.7157C>A (p.Ala2386Asp) c.6203C>A (p.Ala2068Asp) n.7457C>A n.322-321G>T c.7166C>A (p.Ala2389Asp) n.7655C>A | |
2 | g.214947505C>A | CA350793971 | ABCA12,SNHG31 | c.7156G>T (p.Ala2386Ser) c.6202G>T (p.Ala2068Ser) n.7456G>T n.322-320C>A c.7165G>T (p.Ala2389Ser) n.7654G>T | |
2 | g.214947505C>G | CA350793972 | ABCA12,SNHG31 | c.7156G>C (p.Ala2386Pro) c.6202G>C (p.Ala2068Pro) n.7456G>C n.322-320C>G c.7165G>C (p.Ala2389Pro) n.7654G>C | |
2 | g.214947505C>T | CA350793973 | ABCA12,SNHG31 | c.7156G>A (p.Ala2386Thr) c.6202G>A (p.Ala2068Thr) n.7456G>A n.322-320C>T c.7165G>A (p.Ala2389Thr) n.7654G>A | |
2 | g.214947506T>A | CA350793974 | ABCA12,SNHG31 | c.7155A>T (p.Arg2385Ser) c.6201A>T (p.Arg2067Ser) n.7455A>T n.322-319T>A c.7164A>T (p.Arg2388Ser) n.7653A>T | |
2 | g.214947506T>C | CA431319830 | ABCA12,SNHG31 | c.7155A>G (p.Arg2385=) c.6201A>G (p.Arg2067=) n.7455A>G n.322-319T>C c.7164A>G (p.Arg2388=) n.7653A>G | COSMIC |
2 | g.214947506T>G | CA350793975 | ABCA12,SNHG31 | c.7155A>C (p.Arg2385Ser) c.6201A>C (p.Arg2067Ser) n.7455A>C n.322-319T>G c.7164A>C (p.Arg2388Ser) n.7653A>C | |
2 | g.214947507C>A | CA350793978 | ABCA12,SNHG31 | c.7154G>T (p.Arg2385Ile) c.6200G>T (p.Arg2067Ile) n.7454G>T n.322-318C>A c.7163G>T (p.Arg2388Ile) n.7652G>T | |
2 | g.214947507C>G | CA350793976 | ABCA12,SNHG31 | c.7154G>C (p.Arg2385Thr) c.6200G>C (p.Arg2067Thr) n.7454G>C n.322-318C>G c.7163G>C (p.Arg2388Thr) n.7652G>C | |
2 | g.214947507C>T | CA350793977 | ABCA12,SNHG31 | c.7154G>A (p.Arg2385Lys) c.6200G>A (p.Arg2067Lys) n.7454G>A n.322-318C>T c.7163G>A (p.Arg2388Lys) n.7652G>A | |
2 | g.214947508T>A | CA350793979 | ABCA12,SNHG31 | c.7153A>T (p.Arg2385Ter) c.6199A>T (p.Arg2067Ter) n.7453A>T n.322-317T>A c.7162A>T (p.Arg2388Ter) n.7651A>T | |
2 | g.214947508T>C | CA350793980 | ABCA12,SNHG31 | c.7153A>G (p.Arg2385Gly) c.6199A>G (p.Arg2067Gly) n.7453A>G n.322-317T>C c.7162A>G (p.Arg2388Gly) n.7651A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214947508T>G | CA431319831 | ABCA12,SNHG31 | c.7153A>C (p.Arg2385=) c.6199A>C (p.Arg2067=) n.7453A>C n.322-317T>G c.7162A>C (p.Arg2388=) n.7651A>C | |
2 | g.214947508T= | CA1327147266 | ABCA12,SNHG31 | c.7153A= (p.Arg2385=) c.6199A= (p.Arg2067=) n.7453A= n.322-317T= c.7162A= (p.Arg2388=) n.7651A= | |
2 | g.214947509G>A | CA431319832 | ABCA12,SNHG31 | c.7152C>T (p.Asp2384=) c.6198C>T (p.Asp2066=) n.7452C>T n.322-316G>A c.7161C>T (p.Asp2387=) n.7650C>T | |
2 | g.214947509G>C | CA350793981 | ABCA12,SNHG31 | c.7152C>G (p.Asp2384Glu) c.6198C>G (p.Asp2066Glu) n.7452C>G n.322-316G>C c.7161C>G (p.Asp2387Glu) n.7650C>G | dbSNP |
2 | g.214947509G= | CA1327147267 | ABCA12,SNHG31 | c.7152C= (p.Asp2384=) c.6198C= (p.Asp2066=) n.7452C= n.322-316G= c.7161C= (p.Asp2387=) n.7650C= | |
2 | g.214947509G>T | CA350793982 | ABCA12,SNHG31 | c.7152C>A (p.Asp2384Glu) c.6198C>A (p.Asp2066Glu) n.7452C>A n.322-316G>T c.7161C>A (p.Asp2387Glu) n.7650C>A | dbSNP gnomAD v4 |
2 | g.214947510T>A | CA350793983 | ABCA12,SNHG31 | c.7151A>T (p.Asp2384Val) c.6197A>T (p.Asp2066Val) n.7451A>T n.322-315T>A c.7160A>T (p.Asp2387Val) n.7649A>T | |
2 | g.214947510T>C | CA350793984 | ABCA12,SNHG31 | c.7151A>G (p.Asp2384Gly) c.6197A>G (p.Asp2066Gly) n.7451A>G n.322-315T>C c.7160A>G (p.Asp2387Gly) n.7649A>G | |
2 | g.214947510T>G | CA350793985 | ABCA12,SNHG31 | c.7151A>C (p.Asp2384Ala) c.6197A>C (p.Asp2066Ala) n.7451A>C n.322-315T>G c.7160A>C (p.Asp2387Ala) n.7649A>C | |
2 | g.214947511C>A | CA350793986 | ABCA12,SNHG31 | c.7150G>T (p.Asp2384Tyr) c.6196G>T (p.Asp2066Tyr) n.7450G>T n.322-314C>A c.7159G>T (p.Asp2387Tyr) n.7648G>T | |
2 | g.214947511C>G | CA350793987 | ABCA12,SNHG31 | c.7150G>C (p.Asp2384His) c.6196G>C (p.Asp2066His) n.7450G>C n.322-314C>G c.7159G>C (p.Asp2387His) n.7648G>C | |
2 | g.214947511C>T | CA350793988 | ABCA12,SNHG31 | c.7150G>A (p.Asp2384Asn) c.6196G>A (p.Asp2066Asn) n.7450G>A n.322-314C>T c.7159G>A (p.Asp2387Asn) n.7648G>A | gnomAD v4 |
2 | g.214947512C>A | CA350793989 | ABCA12,SNHG31 | c.7149G>T (p.Lys2383Asn) c.6195G>T (p.Lys2065Asn) n.7449G>T n.322-313C>A c.7158G>T (p.Lys2386Asn) n.7647G>T | |
2 | g.214947512C>G | CA350793990 | ABCA12,SNHG31 | c.7149G>C (p.Lys2383Asn) c.6195G>C (p.Lys2065Asn) n.7449G>C n.322-313C>G c.7158G>C (p.Lys2386Asn) n.7647G>C | |
2 | g.214947512C>T | CA431319833 | ABCA12,SNHG31 | c.7149G>A (p.Lys2383=) c.6195G>A (p.Lys2065=) n.7449G>A n.322-313C>T c.7158G>A (p.Lys2386=) n.7647G>A | ClinVar |