Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214947402T>GCA2090711ABCA12,SNHG31c.7239+20A>C (n.7239+20A>C)
c.6285+20A>C (n.6285+20A>C)
n.7539+20A>C
n.322-423T>G
c.7248+20A>C (n.7248+20A>C)
n.7737+20A>C
 dbSNP ExAC gnomAD v2
2g.214947402T=CA1327147229ABCA12,SNHG31c.7239+20A= (n.7239+20A=)
c.6285+20A= (n.6285+20A=)
n.7539+20A=
n.322-423T=
c.7248+20A= (n.7248+20A=)
n.7737+20A=
2g.214947402_214947406delinsTTAAACA1327147230ABCA12,SNHG31c.7239+16_7239+20delinsTTTAA (n.7239+16_7239+20delinsTTTAA)
c.6285+16_6285+20delinsTTTAA (n.6285+16_6285+20delinsTTTAA)
n.7539+16_7539+20delinsTTTAA
n.322-423_322-419delinsTTAAA
c.7248+16_7248+20delinsTTTAA (n.7248+16_7248+20delinsTTTAA)
n.7737+16_7737+20delinsTTTAA
2g.214947403T>GCA2662975045ABCA12,SNHG31c.7239+19A>C (n.7239+19A>C)
c.6285+19A>C (n.6285+19A>C)
n.7539+19A>C
n.322-422T>G
c.7248+19A>C (n.7248+19A>C)
n.7737+19A>C
 gnomAD v4
2g.214947406_214947409delCA1327147231ABCA12,SNHG31c.7239+16_7239+19del (n.7239+16_7239+19del)
c.6285+16_6285+19del (n.6285+16_6285+19del)
n.7539+16_7539+19del
n.322-419_322-416del
c.7248+16_7248+19del (n.7248+16_7248+19del)
n.7737+16_7737+19del
 dbSNP
2g.214947408_214947410delCA2662975046ABCA12,SNHG31c.7239+15_7239+17del (n.7239+15_7239+17del)
c.6285+15_6285+17del (n.6285+15_6285+17del)
n.7539+15_7539+17del
n.322-417_322-415del
c.7248+15_7248+17del (n.7248+15_7248+17del)
n.7737+15_7737+17del
 gnomAD v4
2g.214947406A=CA1327147232ABCA12,SNHG31c.7239+16T= (n.7239+16T=)
c.6285+16T= (n.6285+16T=)
n.7539+16T=
n.322-419A=
c.7248+16T= (n.7248+16T=)
n.7737+16T=
2g.214947406A>GCA539752549ABCA12,SNHG31c.7239+16T>C (n.7239+16T>C)
c.6285+16T>C (n.6285+16T>C)
n.7539+16T>C
n.322-419A>G
c.7248+16T>C (n.7248+16T>C)
n.7737+16T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214947406A>TCA647524050ABCA12,SNHG31c.7239+16T>A (n.7239+16T>A)
c.6285+16T>A (n.6285+16T>A)
n.7539+16T>A
n.322-419A>T
c.7248+16T>A (n.7248+16T>A)
n.7737+16T>A
 COSMIC
2g.214947408A=CA1327147233ABCA12,SNHG31c.7239+14T= (n.7239+14T=)
c.6285+14T= (n.6285+14T=)
n.7539+14T=
n.322-417A=
c.7248+14T= (n.7248+14T=)
n.7737+14T=
2g.214947408A>GCA764603401ABCA12,SNHG31c.7239+14T>C (n.7239+14T>C)
c.6285+14T>C (n.6285+14T>C)
n.7539+14T>C
n.322-417A>G
c.7248+14T>C (n.7248+14T>C)
n.7737+14T>C
 dbSNP gnomAD v3 gnomAD v4
2g.214947409A>GCA2754208992ABCA12,SNHG31c.7239+13T>C (n.7239+13T>C)
c.6285+13T>C (n.6285+13T>C)
n.7539+13T>C
n.322-416A>G
c.7248+13T>C (n.7248+13T>C)
n.7737+13T>C
2g.214947410T>CCA2662975047ABCA12,SNHG31c.7239+12A>G (n.7239+12A>G)
c.6285+12A>G (n.6285+12A>G)
n.7539+12A>G
n.322-415T>C
c.7248+12A>G (n.7248+12A>G)
n.7737+12A>G
 gnomAD v4
2g.214947412A=CA1327147234ABCA12,SNHG31c.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=
2g.214947412A>GCA2090712ABCA12,SNHG31c.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
2g.214947415C>GCA2662975048ABCA12,SNHG31c.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
2g.214947415C>TCA2662975049ABCA12,SNHG31c.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
2g.214947416T>ACA2662975050ABCA12,SNHG31c.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
2g.214947416_214947421delinsTCTTACCA1327147235ABCA12,SNHG31c.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
2g.214947417C=CA1327147236ABCA12,SNHG31c.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=
2g.214947417C>TCA539752552ABCA12,SNHG31c.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
2g.214947418_214947422delCA539752551ABCA12,SNHG31c.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
2g.214947420A>CCA350793790ABCA12,SNHG31c.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
2g.214947420A>GCA350793791ABCA12,SNHG31c.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
2g.214947420A>TCA350793792ABCA12,SNHG31c.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
2g.214947421C>ACA350793793ABCA12,SNHG31c.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
2g.214947421C>GCA350793794ABCA12,SNHG31c.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
2g.214947421C>TCA350793795ABCA12,SNHG31c.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
2g.214947422C>ACA431319678ABCA12,SNHG31c.7239G>T (p.Leu2413=)
c.6285G>T (p.Leu2095=)
n.7539G>T
n.322-403C>A
c.7248G>T (p.Leu2416=)
n.7737G>T
2g.214947422C=CA1327147237ABCA12,SNHG31c.7239G= (p.Leu2413=)
c.6285G= (p.Leu2095=)
n.7539G=
n.322-403C=
c.7248G= (p.Leu2416=)
n.7737G=
2g.214947422C>GCA431319679ABCA12,SNHG31c.7239G>C (p.Leu2413=)
c.6285G>C (p.Leu2095=)
n.7539G>C
n.322-403C>G
c.7248G>C (p.Leu2416=)
n.7737G>C
2g.214947422C>TCA65502950ABCA12,SNHG31c.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
2g.214947423A>CCA350793796ABCA12,SNHG31c.7238T>G (p.Leu2413Arg)
c.6284T>G (p.Leu2095Arg)
n.7538T>G
n.322-402A>C
c.7247T>G (p.Leu2416Arg)
n.7736T>G
2g.214947423A>GCA350793797ABCA12,SNHG31c.7238T>C (p.Leu2413Pro)
c.6284T>C (p.Leu2095Pro)
n.7538T>C
n.322-402A>G
c.7247T>C (p.Leu2416Pro)
n.7736T>C
2g.214947423A>TCA350793798ABCA12,SNHG31c.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
2g.214947424G>ACA431319686ABCA12,SNHG31c.7237C>T (p.Leu2413=)
c.6283C>T (p.Leu2095=)
n.7537C>T
n.322-401G>A
c.7246C>T (p.Leu2416=)
n.7735C>T
2g.214947424G>CCA350793799ABCA12,SNHG31c.7237C>G (p.Leu2413Val)
c.6283C>G (p.Leu2095Val)
n.7537C>G
n.322-401G>C
c.7246C>G (p.Leu2416Val)
n.7735C>G
2g.214947424G>TCA350793800ABCA12,SNHG31c.7237C>A (p.Leu2413Met)
c.6283C>A (p.Leu2095Met)
n.7537C>A
n.322-401G>T
c.7246C>A (p.Leu2416Met)
n.7735C>A
2g.214947425C>ACA431319687ABCA12,SNHG31c.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
2g.214947425C>GCA431319688ABCA12,SNHG31c.7236G>C (p.Leu2412=)
c.6282G>C (p.Leu2094=)
n.7536G>C
n.322-400C>G
c.7245G>C (p.Leu2415=)
n.7734G>C
2g.214947425C>TCA431319690ABCA12,SNHG31c.7236G>A (p.Leu2412=)
c.6282G>A (p.Leu2094=)
n.7536G>A
n.322-400C>T
c.7245G>A (p.Leu2415=)
n.7734G>A
2g.214947426A>CCA350793801ABCA12,SNHG31c.7235T>G (p.Leu2412Arg)
c.6281T>G (p.Leu2094Arg)
n.7535T>G
n.322-399A>C
c.7244T>G (p.Leu2415Arg)
n.7733T>G
2g.214947426A>GCA350793802ABCA12,SNHG31c.7235T>C (p.Leu2412Pro)
c.6281T>C (p.Leu2094Pro)
n.7535T>C
n.322-399A>G
c.7244T>C (p.Leu2415Pro)
n.7733T>C
2g.214947426A>TCA350793803ABCA12,SNHG31c.7235T>A (p.Leu2412Gln)
c.6281T>A (p.Leu2094Gln)
n.7535T>A
n.322-399A>T
c.7244T>A (p.Leu2415Gln)
n.7733T>A
2g.214947428_214947430dupCA2577234620ABCA12,SNHG31c.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
2g.214947427G>ACA431319694ABCA12,SNHG31c.7234C>T (p.Leu2412=)
c.6280C>T (p.Leu2094=)
n.7534C>T
n.322-398G>A
c.7243C>T (p.Leu2415=)
n.7732C>T
2g.214947427G>CCA350793804ABCA12,SNHG31c.7234C>G (p.Leu2412Val)
c.6280C>G (p.Leu2094Val)
n.7534C>G
n.322-398G>C
c.7243C>G (p.Leu2415Val)
n.7732C>G
2g.214947427G>TCA350793805ABCA12,SNHG31c.7234C>A (p.Leu2412Met)
c.6280C>A (p.Leu2094Met)
n.7534C>A
n.322-398G>T
c.7243C>A (p.Leu2415Met)
n.7732C>A
2g.214947428T>ACA431319697ABCA12,SNHG31c.7233A>T (p.Leu2411=)
c.6279A>T (p.Leu2093=)
n.7533A>T
n.322-397T>A
c.7242A>T (p.Leu2414=)
n.7731A>T
2g.214947428T>CCA431319698ABCA12,SNHG31c.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
2g.214947428T>GCA431319700ABCA12,SNHG31c.7233A>C (p.Leu2411=)
c.6279A>C (p.Leu2093=)
n.7533A>C
n.322-397T>G
c.7242A>C (p.Leu2414=)
n.7731A>C
2g.214947429A>CCA350793806ABCA12,SNHG31c.7232T>G (p.Leu2411Arg)
c.6278T>G (p.Leu2093Arg)
n.7532T>G
n.322-396A>C
c.7241T>G (p.Leu2414Arg)
n.7730T>G
2g.214947429A>GCA350793807ABCA12,SNHG31c.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
2g.214947429A>TCA350793808ABCA12,SNHG31c.7232T>A (p.Leu2411Gln)
c.6278T>A (p.Leu2093Gln)
n.7532T>A
n.322-396A>T
c.7241T>A (p.Leu2414Gln)
n.7730T>A
2g.214947430G>ACA431319704ABCA12,SNHG31c.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
2g.214947430G>CCA350793809ABCA12,SNHG31c.7231C>G (p.Leu2411Val)
c.6277C>G (p.Leu2093Val)
n.7531C>G
n.322-395G>C
c.7240C>G (p.Leu2414Val)
n.7729C>G
2g.214947430G>TCA350793810ABCA12,SNHG31c.7231C>A (p.Leu2411Ile)
c.6277C>A (p.Leu2093Ile)
n.7531C>A
n.322-395G>T
c.7240C>A (p.Leu2414Ile)
n.7729C>A
2g.214947431A=CA1327147238ABCA12,SNHG31c.7230T= (p.Ile2410=)
c.6276T= (p.Ile2092=)
n.7530T=
n.322-394A=
c.7239T= (p.Ile2413=)
n.7728T=
2g.214947431A>CCA350793811ABCA12,SNHG31c.7230T>G (p.Ile2410Met)
c.6276T>G (p.Ile2092Met)
n.7530T>G
n.322-394A>C
c.7239T>G (p.Ile2413Met)
n.7728T>G
2g.214947431A>GCA431319708ABCA12,SNHG31c.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
2g.214947431A>TCA431319710ABCA12,SNHG31c.7230T>A (p.Ile2410=)
c.6276T>A (p.Ile2092=)
n.7530T>A
n.322-394A>T
c.7239T>A (p.Ile2413=)
n.7728T>A
2g.214947432A>CCA350793812ABCA12,SNHG31c.7229T>G (p.Ile2410Ser)
c.6275T>G (p.Ile2092Ser)
n.7529T>G
n.322-393A>C
c.7238T>G (p.Ile2413Ser)
n.7727T>G
2g.214947432A>GCA350793813ABCA12,SNHG31c.7229T>C (p.Ile2410Thr)
c.6275T>C (p.Ile2092Thr)
n.7529T>C
n.322-393A>G
c.7238T>C (p.Ile2413Thr)
n.7727T>C
2g.214947432A>TCA350793814ABCA12,SNHG31c.7229T>A (p.Ile2410Asn)
c.6275T>A (p.Ile2092Asn)
n.7529T>A
n.322-393A>T
c.7238T>A (p.Ile2413Asn)
n.7727T>A
2g.214947433T>ACA350793815ABCA12,SNHG31c.7228A>T (p.Ile2410Phe)
c.6274A>T (p.Ile2092Phe)
n.7528A>T
n.322-392T>A
c.7237A>T (p.Ile2413Phe)
n.7726A>T
2g.214947433T>CCA350793816ABCA12,SNHG31c.7228A>G (p.Ile2410Val)
c.6274A>G (p.Ile2092Val)
n.7528A>G
n.322-392T>C
c.7237A>G (p.Ile2413Val)
n.7726A>G
2g.214947433T>GCA350793817ABCA12,SNHG31c.7228A>C (p.Ile2410Leu)
c.6274A>C (p.Ile2092Leu)
n.7528A>C
n.322-392T>G
c.7237A>C (p.Ile2413Leu)
n.7726A>C
2g.214947434G>ACA65502951ABCA12,SNHG31c.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
2g.214947434G>CCA431319717ABCA12,SNHG31c.7227C>G (p.Ser2409=)
c.6273C>G (p.Ser2091=)
n.7527C>G
n.322-391G>C
c.7236C>G (p.Ser2412=)
n.7725C>G
2g.214947434G=CA1327147239ABCA12,SNHG31c.7227C= (p.Ser2409=)
c.6273C= (p.Ser2091=)
n.7527C=
n.322-391G=
c.7236C= (p.Ser2412=)
n.7725C=
2g.214947434G>TCA431319715ABCA12,SNHG31c.7227C>A (p.Ser2409=)
c.6273C>A (p.Ser2091=)
n.7527C>A
n.322-391G>T
c.7236C>A (p.Ser2412=)
n.7725C>A
2g.214947435G>ACA350793818ABCA12,SNHG31c.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
2g.214947435G>CCA350793819ABCA12,SNHG31c.7226C>G (p.Ser2409Cys)
c.6272C>G (p.Ser2091Cys)
n.7526C>G
n.322-390G>C
c.7235C>G (p.Ser2412Cys)
n.7724C>G
2g.214947435G=CA1327147240ABCA12,SNHG31c.7226C= (p.Ser2409=)
c.6272C= (p.Ser2091=)
n.7526C=
n.322-390G=
c.7235C= (p.Ser2412=)
n.7724C=
2g.214947435G>TCA350793820ABCA12,SNHG31c.7226C>A (p.Ser2409Tyr)
c.6272C>A (p.Ser2091Tyr)
n.7526C>A
n.322-390G>T
c.7235C>A (p.Ser2412Tyr)
n.7724C>A
2g.214947436A=CA1327147241ABCA12,SNHG31c.7225T= (p.Ser2409=)
c.6271T= (p.Ser2091=)
n.7525T=
n.322-389A=
c.7234T= (p.Ser2412=)
n.7723T=
2g.214947436A>CCA350793821ABCA12,SNHG31c.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
2g.214947436A>GCA350793822ABCA12,SNHG31c.7225T>C (p.Ser2409Pro)
c.6271T>C (p.Ser2091Pro)
n.7525T>C
n.322-389A>G
c.7234T>C (p.Ser2412Pro)
n.7723T>C
2g.214947436A>TCA350793823ABCA12,SNHG31c.7225T>A (p.Ser2409Thr)
c.6271T>A (p.Ser2091Thr)
n.7525T>A
n.322-389A>T
c.7234T>A (p.Ser2412Thr)
n.7723T>A
2g.214947437A=CA1327147242ABCA12,SNHG31c.7224T= (p.Pro2408=)
c.6270T= (p.Pro2090=)
n.7524T=
n.322-388A=
c.7233T= (p.Pro2411=)
n.7722T=
2g.214947437A>CCA431319727ABCA12,SNHG31c.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
2g.214947437A>GCA431319725ABCA12,SNHG31c.7224T>C (p.Pro2408=)
c.6270T>C (p.Pro2090=)
n.7524T>C
n.322-388A>G
c.7233T>C (p.Pro2411=)
n.7722T>C
2g.214947437A>TCA431319723ABCA12,SNHG31c.7224T>A (p.Pro2408=)
c.6270T>A (p.Pro2090=)
n.7524T>A
n.322-388A>T
c.7233T>A (p.Pro2411=)
n.7722T>A
2g.214947438G>ACA350793826ABCA12,SNHG31c.7223C>T (p.Pro2408Leu)
c.6269C>T (p.Pro2090Leu)
n.7523C>T
n.322-387G>A
c.7232C>T (p.Pro2411Leu)
n.7721C>T
2g.214947438G>CCA350793824ABCA12,SNHG31c.7223C>G (p.Pro2408Arg)
c.6269C>G (p.Pro2090Arg)
n.7523C>G
n.322-387G>C
c.7232C>G (p.Pro2411Arg)
n.7721C>G
2g.214947438G>TCA350793825ABCA12,SNHG31c.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
2g.214947439G>ACA65502952ABCA12,SNHG31c.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
2g.214947439G>CCA350793827ABCA12,SNHG31c.7222C>G (p.Pro2408Ala)
c.6268C>G (p.Pro2090Ala)
n.7522C>G
n.322-386G>C
c.7231C>G (p.Pro2411Ala)
n.7720C>G
2g.214947439G=CA1327147243ABCA12,SNHG31c.7222C= (p.Pro2408=)
c.6268C= (p.Pro2090=)
n.7522C=
n.322-386G=
c.7231C= (p.Pro2411=)
n.7720C=
2g.214947439G>TCA350793828ABCA12,SNHG31c.7222C>A (p.Pro2408Thr)
c.6268C>A (p.Pro2090Thr)
n.7522C>A
n.322-386G>T
c.7231C>A (p.Pro2411Thr)
n.7720C>A
2g.214947440T>ACA350793829ABCA12,SNHG31c.7221A>T (p.Lys2407Asn)
c.6267A>T (p.Lys2089Asn)
n.7521A>T
n.322-385T>A
c.7230A>T (p.Lys2410Asn)
n.7719A>T
2g.214947440T>CCA65502953ABCA12,SNHG31c.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
2g.214947440T>GCA350793830ABCA12,SNHG31c.7221A>C (p.Lys2407Asn)
c.6267A>C (p.Lys2089Asn)
n.7521A>C
n.322-385T>G
c.7230A>C (p.Lys2410Asn)
n.7719A>C
2g.214947440T=CA1327147244ABCA12,SNHG31c.7221A= (p.Lys2407=)
c.6267A= (p.Lys2089=)
n.7521A=
n.322-385T=
c.7230A= (p.Lys2410=)
n.7719A=
2g.214947442delCA2662975051ABCA12,SNHG31c.7221del (p.Lys2407AsnfsTer?)
c.6267del (p.Lys2089AsnfsTer?)
n.7521del
n.322-383del
c.7230del (p.Lys2410AsnfsTer?)
n.7719del
 gnomAD v4
2g.214947441T>ACA350793831ABCA12,SNHG31c.7220A>T (p.Lys2407Ile)
c.6266A>T (p.Lys2089Ile)
n.7520A>T
n.322-384T>A
c.7229A>T (p.Lys2410Ile)
n.7718A>T
2g.214947441T>CCA350793832ABCA12,SNHG31c.7220A>G (p.Lys2407Arg)
c.6266A>G (p.Lys2089Arg)
n.7520A>G
n.322-384T>C
c.7229A>G (p.Lys2410Arg)
n.7718A>G
2g.214947441T>GCA350793833ABCA12,SNHG31c.7220A>C (p.Lys2407Thr)
c.6266A>C (p.Lys2089Thr)
n.7520A>C
n.322-384T>G
c.7229A>C (p.Lys2410Thr)
n.7718A>C
2g.214947442T>ACA350793834ABCA12,SNHG31c.7219A>T (p.Lys2407Ter)
c.6265A>T (p.Lys2089Ter)
n.7519A>T
n.322-383T>A
c.7228A>T (p.Lys2410Ter)
n.7717A>T
2g.214947442T>CCA350793835ABCA12,SNHG31c.7219A>G (p.Lys2407Glu)
c.6265A>G (p.Lys2089Glu)
n.7519A>G
n.322-383T>C
c.7228A>G (p.Lys2410Glu)
n.7717A>G
2g.214947442T>GCA350793836ABCA12,SNHG31c.7219A>C (p.Lys2407Gln)
c.6265A>C (p.Lys2089Gln)
n.7519A>C
n.322-383T>G
c.7228A>C (p.Lys2410Gln)
n.7717A>C
2g.214947443C>ACA431319740ABCA12,SNHG31c.7218G>T (p.Gly2406=)
c.6264G>T (p.Gly2088=)
n.7518G>T
n.322-382C>A
c.7227G>T (p.Gly2409=)
n.7716G>T
2g.214947443C=CA1327147245ABCA12,SNHG31c.7218G= (p.Gly2406=)
c.6264G= (p.Gly2088=)
n.7518G=
n.322-382C=
c.7227G= (p.Gly2409=)
n.7716G=
2g.214947443C>GCA2090713ABCA12,SNHG31c.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
2g.214947443C>TCA431319742ABCA12,SNHG31c.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
2g.214947443_214947444delinsTTCA645535906ABCA12,SNHG31c.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
2g.214947444C>ACA350793838ABCA12,SNHG31c.7217G>T (p.Gly2406Val)
c.6263G>T (p.Gly2088Val)
n.7517G>T
n.322-381C>A
c.7226G>T (p.Gly2409Val)
n.7715G>T
2g.214947444C>GCA350793837ABCA12,SNHG31c.7217G>C (p.Gly2406Ala)
c.6263G>C (p.Gly2088Ala)
n.7517G>C
n.322-381C>G
c.7226G>C (p.Gly2409Ala)
n.7715G>C
2g.214947444C>TCA350793839ABCA12,SNHG31c.7217G>A (p.Gly2406Glu)
c.6263G>A (p.Gly2088Glu)
n.7517G>A
n.322-381C>T
c.7226G>A (p.Gly2409Glu)
n.7715G>A
2g.214947445C>ACA350793840ABCA12,SNHG31c.7216G>T (p.Gly2406Trp)
c.6262G>T (p.Gly2088Trp)
n.7516G>T
n.322-380C>A
c.7225G>T (p.Gly2409Trp)
n.7714G>T
2g.214947445C>GCA350793841ABCA12,SNHG31c.7216G>C (p.Gly2406Arg)
c.6262G>C (p.Gly2088Arg)
n.7516G>C
n.322-380C>G
c.7225G>C (p.Gly2409Arg)
n.7714G>C
2g.214947445C>TCA350793842ABCA12,SNHG31c.7216G>A (p.Gly2406Arg)
c.6262G>A (p.Gly2088Arg)
n.7516G>A
n.322-380C>T
c.7225G>A (p.Gly2409Arg)
n.7714G>A
2g.214947446T>ACA431319748ABCA12,SNHG31c.7215A>T (p.Ile2405=)
c.6261A>T (p.Ile2087=)
n.7515A>T
n.322-379T>A
c.7224A>T (p.Ile2408=)
n.7713A>T
2g.214947446T>CCA350793843ABCA12,SNHG31c.7215A>G (p.Ile2405Met)
c.6261A>G (p.Ile2087Met)
n.7515A>G
n.322-379T>C
c.7224A>G (p.Ile2408Met)
n.7713A>G
2g.214947446T>GCA431319749ABCA12,SNHG31c.7215A>C (p.Ile2405=)
c.6261A>C (p.Ile2087=)
n.7515A>C
n.322-379T>G
c.7224A>C (p.Ile2408=)
n.7713A>C
2g.214947447A=CA1327147246ABCA12,SNHG31c.7214T= (p.Ile2405=)
c.6260T= (p.Ile2087=)
n.7514T=
n.322-378A=
c.7223T= (p.Ile2408=)
n.7712T=
2g.214947447A>CCA350793844ABCA12,SNHG31c.7214T>G (p.Ile2405Arg)
c.6260T>G (p.Ile2087Arg)
n.7514T>G
n.322-378A>C
c.7223T>G (p.Ile2408Arg)
n.7712T>G
2g.214947447A>GCA2090714ABCA12,SNHG31c.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
2g.214947447A>TCA2090715ABCA12,SNHG31c.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
2g.214947448T>ACA350793845ABCA12,SNHG31c.7213A>T (p.Ile2405Leu)
c.6259A>T (p.Ile2087Leu)
n.7513A>T
n.322-377T>A
c.7222A>T (p.Ile2408Leu)
n.7711A>T
2g.214947448T>CCA350793846ABCA12,SNHG31c.7213A>G (p.Ile2405Val)
c.6259A>G (p.Ile2087Val)
n.7513A>G
n.322-377T>C
c.7222A>G (p.Ile2408Val)
n.7711A>G
2g.214947448T>GCA350793847ABCA12,SNHG31c.7213A>C (p.Ile2405Leu)
c.6259A>C (p.Ile2087Leu)
n.7513A>C
n.322-377T>G
c.7222A>C (p.Ile2408Leu)
n.7711A>C
2g.214947449C>ACA350793848ABCA12,SNHG31c.7212G>T (p.Leu2404Phe)
c.6258G>T (p.Leu2086Phe)
n.7512G>T
n.322-376C>A
c.7221G>T (p.Leu2407Phe)
n.7710G>T
2g.214947449C>GCA350793849ABCA12,SNHG31c.7212G>C (p.Leu2404Phe)
c.6258G>C (p.Leu2086Phe)
n.7512G>C
n.322-376C>G
c.7221G>C (p.Leu2407Phe)
n.7710G>C
2g.214947449C>TCA431319757ABCA12,SNHG31c.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
2g.214947450A>CCA350793852ABCA12,SNHG31c.7211T>G (p.Leu2404Trp)
c.6257T>G (p.Leu2086Trp)
n.7511T>G
n.322-375A>C
c.7220T>G (p.Leu2407Trp)
n.7709T>G
2g.214947450A>GCA350793851ABCA12,SNHG31c.7211T>C (p.Leu2404Ser)
c.6257T>C (p.Leu2086Ser)
n.7511T>C
n.322-375A>G
c.7220T>C (p.Leu2407Ser)
n.7709T>C
2g.214947450A>TCA350793850ABCA12,SNHG31c.7211T>A (p.Leu2404Ter)
c.6257T>A (p.Leu2086Ter)
n.7511T>A
n.322-375A>T
c.7220T>A (p.Leu2407Ter)
n.7709T>A
2g.214947451A>CCA350793853ABCA12,SNHG31c.7210T>G (p.Leu2404Val)
c.6256T>G (p.Leu2086Val)
n.7510T>G
n.322-374A>C
c.7219T>G (p.Leu2407Val)
n.7708T>G
2g.214947451A>GCA431319761ABCA12,SNHG31c.7210T>C (p.Leu2404=)
c.6256T>C (p.Leu2086=)
n.7510T>C
n.322-374A>G
c.7219T>C (p.Leu2407=)
n.7708T>C
2g.214947451A>TCA350793854ABCA12,SNHG31c.7210T>A (p.Leu2404Met)
c.6256T>A (p.Leu2086Met)
n.7510T>A
n.322-374A>T
c.7219T>A (p.Leu2407Met)
n.7708T>A
2g.214947452G>ACA2090717ABCA12,SNHG31c.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
2g.214947452G>CCA2090716ABCA12,SNHG31c.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
2g.214947452G=CA1327147247ABCA12,SNHG31c.7209C= (p.Ala2403=)
c.6255C= (p.Ala2085=)
n.7509C=
n.322-373G=
c.7218C= (p.Ala2406=)
n.7707C=
2g.214947452G>TCA431319765ABCA12,SNHG31c.7209C>A (p.Ala2403=)
c.6255C>A (p.Ala2085=)
n.7509C>A
n.322-373G>T
c.7218C>A (p.Ala2406=)
n.7707C>A
2g.214947453G>ACA350793855ABCA12,SNHG31c.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
2g.214947453G>CCA350793856ABCA12,SNHG31c.7208C>G (p.Ala2403Gly)
c.6254C>G (p.Ala2085Gly)
n.7508C>G
n.322-372G>C
c.7217C>G (p.Ala2406Gly)
n.7706C>G
2g.214947453G=CA1327147248ABCA12,SNHG31c.7208C= (p.Ala2403=)
c.6254C= (p.Ala2085=)
n.7508C=
n.322-372G=
c.7217C= (p.Ala2406=)
n.7706C=
2g.214947453G>TCA350793857ABCA12,SNHG31c.7208C>A (p.Ala2403Asp)
c.6254C>A (p.Ala2085Asp)
n.7508C>A
n.322-372G>T
c.7217C>A (p.Ala2406Asp)
n.7706C>A
2g.214947454C>ACA350793858ABCA12,SNHG31c.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
2g.214947454C=CA1327147249ABCA12,SNHG31c.7207G= (p.Ala2403=)
c.6253G= (p.Ala2085=)
n.7507G=
n.322-371C=
c.7216G= (p.Ala2406=)
n.7705G=
2g.214947454C>GCA350793859ABCA12,SNHG31c.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
2g.214947454C>TCA2090718ABCA12,SNHG31c.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
2g.214947455C>ACA431319775ABCA12,SNHG31c.7206G>T (p.Leu2402=)
c.6252G>T (p.Leu2084=)
n.7506G>T
n.322-370C>A
c.7215G>T (p.Leu2405=)
n.7704G>T
2g.214947455C>GCA431319773ABCA12,SNHG31c.7206G>C (p.Leu2402=)
c.6252G>C (p.Leu2084=)
n.7506G>C
n.322-370C>G
c.7215G>C (p.Leu2405=)
n.7704G>C
2g.214947455C>TCA431319772ABCA12,SNHG31c.7206G>A (p.Leu2402=)
c.6252G>A (p.Leu2084=)
n.7506G>A
n.322-370C>T
c.7215G>A (p.Leu2405=)
n.7704G>A
2g.214947456A>CCA350793860ABCA12,SNHG31c.7205T>G (p.Leu2402Arg)
c.6251T>G (p.Leu2084Arg)
n.7505T>G
n.322-369A>C
c.7214T>G (p.Leu2405Arg)
n.7703T>G
2g.214947456A>GCA350793861ABCA12,SNHG31c.7205T>C (p.Leu2402Pro)
c.6251T>C (p.Leu2084Pro)
n.7505T>C
n.322-369A>G
c.7214T>C (p.Leu2405Pro)
n.7703T>C
2g.214947456A>TCA350793862ABCA12,SNHG31c.7205T>A (p.Leu2402Gln)
c.6251T>A (p.Leu2084Gln)
n.7505T>A
n.322-369A>T
c.7214T>A (p.Leu2405Gln)
n.7703T>A
2g.214947457G>ACA431319778ABCA12,SNHG31c.7204C>T (p.Leu2402=)
c.6250C>T (p.Leu2084=)
n.7504C>T
n.322-368G>A
c.7213C>T (p.Leu2405=)
n.7702C>T
2g.214947457G>CCA350793864ABCA12,SNHG31c.7204C>G (p.Leu2402Val)
c.6250C>G (p.Leu2084Val)
n.7504C>G
n.322-368G>C
c.7213C>G (p.Leu2405Val)
n.7702C>G
2g.214947457G>TCA350793863ABCA12,SNHG31c.7204C>A (p.Leu2402Met)
c.6250C>A (p.Leu2084Met)
n.7504C>A
n.322-368G>T
c.7213C>A (p.Leu2405Met)
n.7702C>A
2g.214947458T>ACA431319781ABCA12,SNHG31c.7203A>T (p.Ala2401=)
c.6249A>T (p.Ala2083=)
n.7503A>T
n.322-367T>A
c.7212A>T (p.Ala2404=)
n.7701A>T
2g.214947458T>CCA431319785ABCA12,SNHG31c.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
2g.214947458T>GCA431319783ABCA12,SNHG31c.7203A>C (p.Ala2401=)
c.6249A>C (p.Ala2083=)
n.7503A>C
n.322-367T>G
c.7212A>C (p.Ala2404=)
n.7701A>C
2g.214947458T=CA1327147250ABCA12,SNHG31c.7203A= (p.Ala2401=)
c.6249A= (p.Ala2083=)
n.7503A=
n.322-367T=
c.7212A= (p.Ala2404=)
n.7701A=
2g.214947459G>ACA350793865ABCA12,SNHG31c.7202C>T (p.Ala2401Val)
c.6248C>T (p.Ala2083Val)
n.7502C>T
n.322-366G>A
c.7211C>T (p.Ala2404Val)
n.7700C>T
2g.214947459G>CCA350793866ABCA12,SNHG31c.7202C>G (p.Ala2401Gly)
c.6248C>G (p.Ala2083Gly)
n.7502C>G
n.322-366G>C
c.7211C>G (p.Ala2404Gly)
n.7700C>G
2g.214947459G>TCA350793867ABCA12,SNHG31c.7202C>A (p.Ala2401Glu)
c.6248C>A (p.Ala2083Glu)
n.7502C>A
n.322-366G>T
c.7211C>A (p.Ala2404Glu)
n.7700C>A
2g.214947460C>ACA350793868ABCA12,SNHG31c.7201G>T (p.Ala2401Ser)
c.6247G>T (p.Ala2083Ser)
n.7501G>T
n.322-365C>A
c.7210G>T (p.Ala2404Ser)
n.7699G>T
2g.214947460C>GCA350793869ABCA12,SNHG31c.7201G>C (p.Ala2401Pro)
c.6247G>C (p.Ala2083Pro)
n.7501G>C
n.322-365C>G
c.7210G>C (p.Ala2404Pro)
n.7699G>C
2g.214947460C>TCA350793870ABCA12,SNHG31c.7201G>A (p.Ala2401Thr)
c.6247G>A (p.Ala2083Thr)
n.7501G>A
n.322-365C>T
c.7210G>A (p.Ala2404Thr)
n.7699G>A
2g.214947461A>CCA431319790ABCA12,SNHG31c.7200T>G (p.Thr2400=)
c.6246T>G (p.Thr2082=)
n.7500T>G
n.322-364A>C
c.7209T>G (p.Thr2403=)
n.7698T>G
2g.214947461A>GCA431319792ABCA12,SNHG31c.7200T>C (p.Thr2400=)
c.6246T>C (p.Thr2082=)
n.7500T>C
n.322-364A>G
c.7209T>C (p.Thr2403=)
n.7698T>C
2g.214947461A>TCA431319794ABCA12,SNHG31c.7200T>A (p.Thr2400=)
c.6246T>A (p.Thr2082=)
n.7500T>A
n.322-364A>T
c.7209T>A (p.Thr2403=)
n.7698T>A
2g.214947462G>ACA350793873ABCA12,SNHG31c.7199C>T (p.Thr2400Ile)
c.6245C>T (p.Thr2082Ile)
n.7499C>T
n.322-363G>A
c.7208C>T (p.Thr2403Ile)
n.7697C>T
2g.214947462G>CCA350793872ABCA12,SNHG31c.7199C>G (p.Thr2400Ser)
c.6245C>G (p.Thr2082Ser)
n.7499C>G
n.322-363G>C
c.7208C>G (p.Thr2403Ser)
n.7697C>G
2g.214947462G>TCA350793871ABCA12,SNHG31c.7199C>A (p.Thr2400Asn)
c.6245C>A (p.Thr2082Asn)
n.7499C>A
n.322-363G>T
c.7208C>A (p.Thr2403Asn)
n.7697C>A
2g.214947463T>ACA350793874ABCA12,SNHG31c.7198A>T (p.Thr2400Ser)
c.6244A>T (p.Thr2082Ser)
n.7498A>T
n.322-362T>A
c.7207A>T (p.Thr2403Ser)
n.7696A>T
2g.214947463T>CCA350793875ABCA12,SNHG31c.7198A>G (p.Thr2400Ala)
c.6244A>G (p.Thr2082Ala)
n.7498A>G
n.322-362T>C
c.7207A>G (p.Thr2403Ala)
n.7696A>G
2g.214947463T>GCA350793876ABCA12,SNHG31c.7198A>C (p.Thr2400Pro)
c.6244A>C (p.Thr2082Pro)
n.7498A>C
n.322-362T>G
c.7207A>C (p.Thr2403Pro)
n.7696A>C
2g.214947464G>ACA431319799ABCA12,SNHG31c.7197C>T (p.Ser2399=)
c.6243C>T (p.Ser2081=)
n.7497C>T
n.322-361G>A
c.7206C>T (p.Ser2402=)
n.7695C>T
2g.214947464G>CCA431319800ABCA12,SNHG31c.7197C>G (p.Ser2399=)
c.6243C>G (p.Ser2081=)
n.7497C>G
n.322-361G>C
c.7206C>G (p.Ser2402=)
n.7695C>G
2g.214947464G>TCA431319802ABCA12,SNHG31c.7197C>A (p.Ser2399=)
c.6243C>A (p.Ser2081=)
n.7497C>A
n.322-361G>T
c.7206C>A (p.Ser2402=)
n.7695C>A
2g.214947465G>ACA350793877ABCA12,SNHG31c.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
2g.214947465G>CCA350793878ABCA12,SNHG31c.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
2g.214947465G=CA1327147251ABCA12,SNHG31c.7196C= (p.Ser2399=)
c.6242C= (p.Ser2081=)
n.7496C=
n.322-360G=
c.7205C= (p.Ser2402=)
n.7694C=
2g.214947465G>TCA350793879ABCA12,SNHG31c.7196C>A (p.Ser2399Tyr)
c.6242C>A (p.Ser2081Tyr)
n.7496C>A
n.322-360G>T
c.7205C>A (p.Ser2402Tyr)
n.7694C>A
2g.214947466A>CCA350793880ABCA12,SNHG31c.7195T>G (p.Ser2399Ala)
c.6241T>G (p.Ser2081Ala)
n.7495T>G
n.322-359A>C
c.7204T>G (p.Ser2402Ala)
n.7693T>G
2g.214947466A>GCA350793882ABCA12,SNHG31c.7195T>C (p.Ser2399Pro)
c.6241T>C (p.Ser2081Pro)
n.7495T>C
n.322-359A>G
c.7204T>C (p.Ser2402Pro)
n.7693T>C
2g.214947466A>TCA350793881ABCA12,SNHG31c.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
2g.214947467T>ACA350793883ABCA12,SNHG31c.7194A>T (p.Leu2398Phe)
c.6240A>T (p.Leu2080Phe)
n.7494A>T
n.322-358T>A
c.7203A>T (p.Leu2401Phe)
n.7692A>T
2g.214947467T>CCA431319807ABCA12,SNHG31c.7194A>G (p.Leu2398=)
c.6240A>G (p.Leu2080=)
n.7494A>G
n.322-358T>C
c.7203A>G (p.Leu2401=)
n.7692A>G
2g.214947467T>GCA350793884ABCA12,SNHG31c.7194A>C (p.Leu2398Phe)
c.6240A>C (p.Leu2080Phe)
n.7494A>C
n.322-358T>G
c.7203A>C (p.Leu2401Phe)
n.7692A>C
2g.214947468A>CCA350793885ABCA12,SNHG31c.7193T>G (p.Leu2398Ter)
c.6239T>G (p.Leu2080Ter)
n.7493T>G
n.322-357A>C
c.7202T>G (p.Leu2401Ter)
n.7691T>G
2g.214947468A>GCA350793886ABCA12,SNHG31c.7193T>C (p.Leu2398Ser)
c.6239T>C (p.Leu2080Ser)
n.7493T>C
n.322-357A>G
c.7202T>C (p.Leu2401Ser)
n.7691T>C
2g.214947468A>TCA350793887ABCA12,SNHG31c.7193T>A (p.Leu2398Ter)
c.6239T>A (p.Leu2080Ter)
n.7493T>A
n.322-357A>T
c.7202T>A (p.Leu2401Ter)
n.7691T>A
2g.214947469A>CCA350793888ABCA12,SNHG31c.7192T>G (p.Leu2398Val)
c.6238T>G (p.Leu2080Val)
n.7492T>G
n.322-356A>C
c.7201T>G (p.Leu2401Val)
n.7690T>G
2g.214947469A>GCA431319808ABCA12,SNHG31c.7192T>C (p.Leu2398=)
c.6238T>C (p.Leu2080=)
n.7492T>C
n.322-356A>G
c.7201T>C (p.Leu2401=)
n.7690T>C
2g.214947469A>TCA350793889ABCA12,SNHG31c.7192T>A (p.Leu2398Ile)
c.6238T>A (p.Leu2080Ile)
n.7492T>A
n.322-356A>T
c.7201T>A (p.Leu2401Ile)
n.7690T>A
2g.214947470T>ACA350793890ABCA12,SNHG31c.7191A>T (p.Lys2397Asn)
c.6237A>T (p.Lys2079Asn)
n.7491A>T
n.322-355T>A
c.7200A>T (p.Lys2400Asn)
n.7689A>T
2g.214947470T>CCA431319809ABCA12,SNHG31c.7191A>G (p.Lys2397=)
c.6237A>G (p.Lys2079=)
n.7491A>G
n.322-355T>C
c.7200A>G (p.Lys2400=)
n.7689A>G
2g.214947470T>GCA350793891ABCA12,SNHG31c.7191A>C (p.Lys2397Asn)
c.6237A>C (p.Lys2079Asn)
n.7491A>C
n.322-355T>G
c.7200A>C (p.Lys2400Asn)
n.7689A>C
2g.214947471T>ACA350793892ABCA12,SNHG31c.7190A>T (p.Lys2397Ile)
c.6236A>T (p.Lys2079Ile)
n.7490A>T
n.322-354T>A
c.7199A>T (p.Lys2400Ile)
n.7688A>T
2g.214947471T>CCA350793893ABCA12,SNHG31c.7190A>G (p.Lys2397Arg)
c.6236A>G (p.Lys2079Arg)
n.7490A>G
n.322-354T>C
c.7199A>G (p.Lys2400Arg)
n.7688A>G
2g.214947471T>GCA350793894ABCA12,SNHG31c.7190A>C (p.Lys2397Thr)
c.6236A>C (p.Lys2079Thr)
n.7490A>C
n.322-354T>G
c.7199A>C (p.Lys2400Thr)
n.7688A>C
2g.214947472T>ACA350793897ABCA12,SNHG31c.7189A>T (p.Lys2397Ter)
c.6235A>T (p.Lys2079Ter)
n.7489A>T
n.322-353T>A
c.7198A>T (p.Lys2400Ter)
n.7687A>T
2g.214947472T>CCA350793895ABCA12,SNHG31c.7189A>G (p.Lys2397Glu)
c.6235A>G (p.Lys2079Glu)
n.7489A>G
n.322-353T>C
c.7198A>G (p.Lys2400Glu)
n.7687A>G
2g.214947472T>GCA350793896ABCA12,SNHG31c.7189A>C (p.Lys2397Gln)
c.6235A>C (p.Lys2079Gln)
n.7489A>C
n.322-353T>G
c.7198A>C (p.Lys2400Gln)
n.7687A>C
2g.214947473T>ACA350793898ABCA12,SNHG31c.7188A>T (p.Arg2396Ser)
c.6234A>T (p.Arg2078Ser)
n.7488A>T
n.322-352T>A
c.7197A>T (p.Arg2399Ser)
n.7686A>T
2g.214947473T>CCA431319810ABCA12,SNHG31c.7188A>G (p.Arg2396=)
c.6234A>G (p.Arg2078=)
n.7488A>G
n.322-352T>C
c.7197A>G (p.Arg2399=)
n.7686A>G
2g.214947473T>GCA350793899ABCA12,SNHG31c.7188A>C (p.Arg2396Ser)
c.6234A>C (p.Arg2078Ser)
n.7488A>C
n.322-352T>G
c.7197A>C (p.Arg2399Ser)
n.7686A>C
2g.214947474C>ACA350793900ABCA12,SNHG31c.7187G>T (p.Arg2396Ile)
c.6233G>T (p.Arg2078Ile)
n.7487G>T
n.322-351C>A
c.7196G>T (p.Arg2399Ile)
n.7685G>T
2g.214947474C=CA1327147252ABCA12,SNHG31c.7187G= (p.Arg2396=)
c.6233G= (p.Arg2078=)
n.7487G=
n.322-351C=
c.7196G= (p.Arg2399=)
n.7685G=
2g.214947474C>GCA350793901ABCA12,SNHG31c.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
2g.214947474C>TCA350793902ABCA12,SNHG31c.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
2g.214947474_214947475delinsCTCA1327147253ABCA12,SNHG31c.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
2g.214947475T>ACA350793903ABCA12,SNHG31c.7186A>T (p.Arg2396Ter)
c.6232A>T (p.Arg2078Ter)
n.7486A>T
n.322-350T>A
c.7195A>T (p.Arg2399Ter)
n.7684A>T
2g.214947475T>CCA350793904ABCA12,SNHG31c.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
2g.214947475T>GCA431319811ABCA12,SNHG31c.7186A>C (p.Arg2396=)
c.6232A>C (p.Arg2078=)
n.7486A>C
n.322-350T>G
c.7195A>C (p.Arg2399=)
n.7684A>C
2g.214947475T=CA1327147254ABCA12,SNHG31c.7186A= (p.Arg2396=)
c.6232A= (p.Arg2078=)
n.7486A=
n.322-350T=
c.7195A= (p.Arg2399=)
n.7684A=
2g.214947479delCA916772173ABCA12,SNHG31c.7186del (p.Arg2396GlufsTer9)
c.6232del (p.Arg2078GlufsTer9)
n.7486del
n.322-346del
c.7195del (p.Arg2399GlufsTer9)
n.7684del
 dbSNP
2g.214947476T>ACA350793906ABCA12,SNHG31c.7185A>T (p.Lys2395Asn)
c.6231A>T (p.Lys2077Asn)
n.7485A>T
n.322-349T>A
c.7194A>T (p.Lys2398Asn)
n.7683A>T
2g.214947476T>CCA431319812ABCA12,SNHG31c.7185A>G (p.Lys2395=)
c.6231A>G (p.Lys2077=)
n.7485A>G
n.322-349T>C
c.7194A>G (p.Lys2398=)
n.7683A>G
2g.214947476T>GCA350793905ABCA12,SNHG31c.7185A>C (p.Lys2395Asn)
c.6231A>C (p.Lys2077Asn)
n.7485A>C
n.322-349T>G
c.7194A>C (p.Lys2398Asn)
n.7683A>C
2g.214947477T>ACA350793907ABCA12,SNHG31c.7184A>T (p.Lys2395Ile)
c.6230A>T (p.Lys2077Ile)
n.7484A>T
n.322-348T>A
c.7193A>T (p.Lys2398Ile)
n.7682A>T
2g.214947477T>CCA350793908ABCA12,SNHG31c.7184A>G (p.Lys2395Arg)
c.6230A>G (p.Lys2077Arg)
n.7484A>G
n.322-348T>C
c.7193A>G (p.Lys2398Arg)
n.7682A>G
2g.214947477T>GCA350793909ABCA12,SNHG31c.7184A>C (p.Lys2395Thr)
c.6230A>C (p.Lys2077Thr)
n.7484A>C
n.322-348T>G
c.7193A>C (p.Lys2398Thr)
n.7682A>C
2g.214947478T>ACA350793910ABCA12,SNHG31c.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
2g.214947478T>CCA350793911ABCA12,SNHG31c.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
2g.214947478T>GCA350793912ABCA12,SNHG31c.7183A>C (p.Lys2395Gln)
c.6229A>C (p.Lys2077Gln)
n.7483A>C
n.322-347T>G
c.7192A>C (p.Lys2398Gln)
n.7681A>C
2g.214947478T=CA1327147255ABCA12,SNHG31c.7183A= (p.Lys2395=)
c.6229A= (p.Lys2077=)
n.7483A=
n.322-347T=
c.7192A= (p.Lys2398=)
n.7681A=
2g.214947479T>ACA431319813ABCA12,SNHG31c.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
2g.214947479T>CCA431319814ABCA12,SNHG31c.7182A>G (p.Thr2394=)
c.6228A>G (p.Thr2076=)
n.7482A>G
n.322-346T>C
c.7191A>G (p.Thr2397=)
n.7680A>G
2g.214947479T>GCA431319815ABCA12,SNHG31c.7182A>C (p.Thr2394=)
c.6228A>C (p.Thr2076=)
n.7482A>C
n.322-346T>G
c.7191A>C (p.Thr2397=)
n.7680A>C
2g.214947480G>ACA350793913ABCA12,SNHG31c.7181C>T (p.Thr2394Ile)
c.6227C>T (p.Thr2076Ile)
n.7481C>T
n.322-345G>A
c.7190C>T (p.Thr2397Ile)
n.7679C>T
2g.214947480G>CCA350793915ABCA12,SNHG31c.7181C>G (p.Thr2394Arg)
c.6227C>G (p.Thr2076Arg)
n.7481C>G
n.322-345G>C
c.7190C>G (p.Thr2397Arg)
n.7679C>G
2g.214947480G=CA1327147256ABCA12,SNHG31c.7181C= (p.Thr2394=)
c.6227C= (p.Thr2076=)
n.7481C=
n.322-345G=
c.7190C= (p.Thr2397=)
n.7679C=
2g.214947480G>TCA350793914ABCA12,SNHG31c.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
2g.214947481T>ACA350793916ABCA12,SNHG31c.7180A>T (p.Thr2394Ser)
c.6226A>T (p.Thr2076Ser)
n.7480A>T
n.322-344T>A
c.7189A>T (p.Thr2397Ser)
n.7678A>T
2g.214947481T>CCA2090719ABCA12,SNHG31c.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
2g.214947481T>GCA350793917ABCA12,SNHG31c.7180A>C (p.Thr2394Pro)
c.6226A>C (p.Thr2076Pro)
n.7480A>C
n.322-344T>G
c.7189A>C (p.Thr2397Pro)
n.7678A>C
2g.214947481T=CA1327147257ABCA12,SNHG31c.7180A= (p.Thr2394=)
c.6226A= (p.Thr2076=)
n.7480A=
n.322-344T=
c.7189A= (p.Thr2397=)
n.7678A=
2g.214947482G>ACA431319816ABCA12,SNHG31c.7179C>T (p.Gly2393=)
c.6225C>T (p.Gly2075=)
n.7479C>T
n.322-343G>A
c.7188C>T (p.Gly2396=)
n.7677C>T
2g.214947482G>CCA431319817ABCA12,SNHG31c.7179C>G (p.Gly2393=)
c.6225C>G (p.Gly2075=)
n.7479C>G
n.322-343G>C
c.7188C>G (p.Gly2396=)
n.7677C>G
2g.214947482G>TCA431319818ABCA12,SNHG31c.7179C>A (p.Gly2393=)
c.6225C>A (p.Gly2075=)
n.7479C>A
n.322-343G>T
c.7188C>A (p.Gly2396=)
n.7677C>A
2g.214947483C>ACA350793918ABCA12,SNHG31c.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
2g.214947483C=CA1327147258ABCA12,SNHG31c.7178G= (p.Gly2393=)
c.6224G= (p.Gly2075=)
n.7478G=
n.322-342C=
c.7187G= (p.Gly2396=)
n.7676G=
2g.214947483C>GCA350793919ABCA12,SNHG31c.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
2g.214947483C>TCA350793920ABCA12,SNHG31c.7178G>A (p.Gly2393Asp)
c.6224G>A (p.Gly2075Asp)
n.7478G>A
n.322-342C>T
c.7187G>A (p.Gly2396Asp)
n.7676G>A
2g.214947484C>ACA350793921ABCA12,SNHG31c.7177G>T (p.Gly2393Cys)
c.6223G>T (p.Gly2075Cys)
n.7477G>T
n.322-341C>A
c.7186G>T (p.Gly2396Cys)
n.7675G>T
2g.214947484C>GCA350793922ABCA12,SNHG31c.7177G>C (p.Gly2393Arg)
c.6223G>C (p.Gly2075Arg)
n.7477G>C
n.322-341C>G
c.7186G>C (p.Gly2396Arg)
n.7675G>C
2g.214947484C>TCA350793923ABCA12,SNHG31c.7177G>A (p.Gly2393Ser)
c.6223G>A (p.Gly2075Ser)
n.7477G>A
n.322-341C>T
c.7186G>A (p.Gly2396Ser)
n.7675G>A
2g.214947485A=CA1327147259ABCA12,SNHG31c.7176T= (p.Tyr2392=)
c.6222T= (p.Tyr2074=)
n.7476T=
n.322-340A=
c.7185T= (p.Tyr2395=)
n.7674T=
2g.214947485A>CCA350793924ABCA12,SNHG31c.7176T>G (p.Tyr2392Ter)
c.6222T>G (p.Tyr2074Ter)
n.7476T>G
n.322-340A>C
c.7185T>G (p.Tyr2395Ter)
n.7674T>G
2g.214947485A>GCA2090720ABCA12,SNHG31c.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
2g.214947485A>TCA350793925ABCA12,SNHG31c.7176T>A (p.Tyr2392Ter)
c.6222T>A (p.Tyr2074Ter)
n.7476T>A
n.322-340A>T
c.7185T>A (p.Tyr2395Ter)
n.7674T>A
2g.214947486T>ACA350793928ABCA12,SNHG31c.7175A>T (p.Tyr2392Phe)
c.6221A>T (p.Tyr2074Phe)
n.7475A>T
n.322-339T>A
c.7184A>T (p.Tyr2395Phe)
n.7673A>T
2g.214947486T>CCA350793926ABCA12,SNHG31c.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
2g.214947486T>GCA350793927ABCA12,SNHG31c.7175A>C (p.Tyr2392Ser)
c.6221A>C (p.Tyr2074Ser)
n.7475A>C
n.322-339T>G
c.7184A>C (p.Tyr2395Ser)
n.7673A>C
2g.214947487A>CCA350793929ABCA12,SNHG31c.7174T>G (p.Tyr2392Asp)
c.6220T>G (p.Tyr2074Asp)
n.7474T>G
n.322-338A>C
c.7183T>G (p.Tyr2395Asp)
n.7672T>G
2g.214947487A>GCA350793930ABCA12,SNHG31c.7174T>C (p.Tyr2392His)
c.6220T>C (p.Tyr2074His)
n.7474T>C
n.322-338A>G
c.7183T>C (p.Tyr2395His)
n.7672T>C
2g.214947487A>TCA350793931ABCA12,SNHG31c.7174T>A (p.Tyr2392Asn)
c.6220T>A (p.Tyr2074Asn)
n.7474T>A
n.322-338A>T
c.7183T>A (p.Tyr2395Asn)
n.7672T>A
2g.214947488A>CCA350793932ABCA12,SNHG31c.7173T>G (p.Ser2391Arg)
c.6219T>G (p.Ser2073Arg)
n.7473T>G
n.322-337A>C
c.7182T>G (p.Ser2394Arg)
n.7671T>G
2g.214947488A>GCA431319819ABCA12,SNHG31c.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
2g.214947488A>TCA350793933ABCA12,SNHG31c.7173T>A (p.Ser2391Arg)
c.6219T>A (p.Ser2073Arg)
n.7473T>A
n.322-337A>T
c.7182T>A (p.Ser2394Arg)
n.7671T>A
2g.214947489C>ACA350793934ABCA12,SNHG31c.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
2g.214947489C=CA1327147260ABCA12,SNHG31c.7172G= (p.Ser2391=)
c.6218G= (p.Ser2073=)
n.7472G=
n.322-336C=
c.7181G= (p.Ser2394=)
n.7670G=
2g.214947489C>GCA350793935ABCA12,SNHG31c.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
2g.214947489C>TCA350793936ABCA12,SNHG31c.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
2g.214947490T>ACA350793937ABCA12,SNHG31c.7171A>T (p.Ser2391Cys)
c.6217A>T (p.Ser2073Cys)
n.7471A>T
n.322-335T>A
c.7180A>T (p.Ser2394Cys)
n.7669A>T
2g.214947490T>CCA350793938ABCA12,SNHG31c.7171A>G (p.Ser2391Gly)
c.6217A>G (p.Ser2073Gly)
n.7471A>G
n.322-335T>C
c.7180A>G (p.Ser2394Gly)
n.7669A>G
2g.214947490T>GCA350793939ABCA12,SNHG31c.7171A>C (p.Ser2391Arg)
c.6217A>C (p.Ser2073Arg)
n.7471A>C
n.322-335T>G
c.7180A>C (p.Ser2394Arg)
n.7669A>C
2g.214947491G>ACA431319820ABCA12,SNHG31c.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
2g.214947491G>CCA350793940ABCA12,SNHG31c.7170C>G (p.Cys2390Trp)
c.6216C>G (p.Cys2072Trp)
n.7470C>G
n.322-334G>C
c.7179C>G (p.Cys2393Trp)
n.7668C>G
2g.214947491G>TCA350793941ABCA12,SNHG31c.7170C>A (p.Cys2390Ter)
c.6216C>A (p.Cys2072Ter)
n.7470C>A
n.322-334G>T
c.7179C>A (p.Cys2393Ter)
n.7668C>A
2g.214947492C>ACA350793944ABCA12,SNHG31c.7169G>T (p.Cys2390Phe)
c.6215G>T (p.Cys2072Phe)
n.7469G>T
n.322-333C>A
c.7178G>T (p.Cys2393Phe)
n.7667G>T
2g.214947492C>GCA350793942ABCA12,SNHG31c.7169G>C (p.Cys2390Ser)
c.6215G>C (p.Cys2072Ser)
n.7469G>C
n.322-333C>G
c.7178G>C (p.Cys2393Ser)
n.7667G>C
2g.214947492C>TCA350793943ABCA12,SNHG31c.7169G>A (p.Cys2390Tyr)
c.6215G>A (p.Cys2072Tyr)
n.7469G>A
n.322-333C>T
c.7178G>A (p.Cys2393Tyr)
n.7667G>A
2g.214947493A>CCA350793945ABCA12,SNHG31c.7168T>G (p.Cys2390Gly)
c.6214T>G (p.Cys2072Gly)
n.7468T>G
n.322-332A>C
c.7177T>G (p.Cys2393Gly)
n.7666T>G
2g.214947493A>GCA350793946ABCA12,SNHG31c.7168T>C (p.Cys2390Arg)
c.6214T>C (p.Cys2072Arg)
n.7468T>C
n.322-332A>G
c.7177T>C (p.Cys2393Arg)
n.7666T>C
2g.214947493A>TCA350793947ABCA12,SNHG31c.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
2g.214947494C>ACA350793948ABCA12,SNHG31c.7167G>T (p.Met2389Ile)
c.6213G>T (p.Met2071Ile)
n.7467G>T
n.322-331C>A
c.7176G>T (p.Met2392Ile)
n.7665G>T
2g.214947494C=CA1327147261ABCA12,SNHG31c.7167G= (p.Met2389=)
c.6213G= (p.Met2071=)
n.7467G=
n.322-331C=
c.7176G= (p.Met2392=)
n.7665G=
2g.214947494C>GCA350793949ABCA12,SNHG31c.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
2g.214947494C>TCA350793950ABCA12,SNHG31c.7167G>A (p.Met2389Ile)
c.6213G>A (p.Met2071Ile)
n.7467G>A
n.322-331C>T
c.7176G>A (p.Met2392Ile)
n.7665G>A
2g.214947495A=CA1327147262ABCA12,SNHG31c.7166T= (p.Met2389=)
c.6212T= (p.Met2071=)
n.7466T=
n.322-330A=
c.7175T= (p.Met2392=)
n.7664T=
2g.214947495A>CCA350793951ABCA12,SNHG31c.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
2g.214947495A>GCA350793952ABCA12,SNHG31c.7166T>C (p.Met2389Thr)
c.6212T>C (p.Met2071Thr)
n.7466T>C
n.322-330A>G
c.7175T>C (p.Met2392Thr)
n.7664T>C
2g.214947495A>TCA350793953ABCA12,SNHG31c.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
2g.214947496T>ACA350793954ABCA12,SNHG31c.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
2g.214947496T>CCA65502954ABCA12,SNHG31c.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
2g.214947496T>GCA350793955ABCA12,SNHG31c.7165A>C (p.Met2389Leu)
c.6211A>C (p.Met2071Leu)
n.7465A>C
n.322-329T>G
c.7174A>C (p.Met2392Leu)
n.7663A>C
2g.214947496T=CA1327147263ABCA12,SNHG31c.7165A= (p.Met2389=)
c.6211A= (p.Met2071=)
n.7465A=
n.322-329T=
c.7174A= (p.Met2392=)
n.7663A=
2g.214947497A>CCA431319821ABCA12,SNHG31c.7164T>G (p.Ser2388=)
c.6210T>G (p.Ser2070=)
n.7464T>G
n.322-328A>C
c.7173T>G (p.Ser2391=)
n.7662T>G
2g.214947497A>GCA431319822ABCA12,SNHG31c.7164T>C (p.Ser2388=)
c.6210T>C (p.Ser2070=)
n.7464T>C
n.322-328A>G
c.7173T>C (p.Ser2391=)
n.7662T>C
2g.214947497A>TCA431319823ABCA12,SNHG31c.7164T>A (p.Ser2388=)
c.6210T>A (p.Ser2070=)
n.7464T>A
n.322-328A>T
c.7173T>A (p.Ser2391=)
n.7662T>A
2g.214947497dupCA2586971263ABCA12,SNHG31c.7164dup (p.Met2389TyrfsTer27)
c.6210dup (p.Met2071TyrfsTer27)
n.7464dup
n.322-328dup
c.7173dup (p.Met2392TyrfsTer27)
n.7662dup
 gnomAD v4
2g.214947498G>ACA350793956ABCA12,SNHG31c.7163C>T (p.Ser2388Phe)
c.6209C>T (p.Ser2070Phe)
n.7463C>T
n.322-327G>A
c.7172C>T (p.Ser2391Phe)
n.7661C>T
2g.214947498G>CCA350793958ABCA12,SNHG31c.7163C>G (p.Ser2388Cys)
c.6209C>G (p.Ser2070Cys)
n.7463C>G
n.322-327G>C
c.7172C>G (p.Ser2391Cys)
n.7661C>G
2g.214947498G>TCA350793957ABCA12,SNHG31c.7163C>A (p.Ser2388Tyr)
c.6209C>A (p.Ser2070Tyr)
n.7463C>A
n.322-327G>T
c.7172C>A (p.Ser2391Tyr)
n.7661C>A
2g.214947499A>CCA350793959ABCA12,SNHG31c.7162T>G (p.Ser2388Ala)
c.6208T>G (p.Ser2070Ala)
n.7462T>G
n.322-326A>C
c.7171T>G (p.Ser2391Ala)
n.7660T>G
2g.214947499A>GCA350793961ABCA12,SNHG31c.7162T>C (p.Ser2388Pro)
c.6208T>C (p.Ser2070Pro)
n.7462T>C
n.322-326A>G
c.7171T>C (p.Ser2391Pro)
n.7660T>C
2g.214947499A>TCA350793960ABCA12,SNHG31c.7162T>A (p.Ser2388Thr)
c.6208T>A (p.Ser2070Thr)
n.7462T>A
n.322-326A>T
c.7171T>A (p.Ser2391Thr)
n.7660T>A
2g.214947500G>ACA431319824ABCA12,SNHG31c.7161C>T (p.Thr2387=)
c.6207C>T (p.Thr2069=)
n.7461C>T
n.322-325G>A
c.7170C>T (p.Thr2390=)
n.7659C>T
2g.214947500G>CCA431319826ABCA12,SNHG31c.7161C>G (p.Thr2387=)
c.6207C>G (p.Thr2069=)
n.7461C>G
n.322-325G>C
c.7170C>G (p.Thr2390=)
n.7659C>G
2g.214947500G>TCA431319825ABCA12,SNHG31c.7161C>A (p.Thr2387=)
c.6207C>A (p.Thr2069=)
n.7461C>A
n.322-325G>T
c.7170C>A (p.Thr2390=)
n.7659C>A
2g.214947501G>ACA350793962ABCA12,SNHG31c.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
2g.214947501G>CCA350793963ABCA12,SNHG31c.7160C>G (p.Thr2387Ser)
c.6206C>G (p.Thr2069Ser)
n.7460C>G
n.322-324G>C
c.7169C>G (p.Thr2390Ser)
n.7658C>G
2g.214947501G=CA1327147264ABCA12,SNHG31c.7160C= (p.Thr2387=)
c.6206C= (p.Thr2069=)
n.7460C=
n.322-324G=
c.7169C= (p.Thr2390=)
n.7658C=
2g.214947501G>TCA350793964ABCA12,SNHG31c.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

Number of alleles fetched