Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.133017940G>ACA210705TGc.6725G>A (p.Arg2242His)
c.168+74G>A
c.2091G>A
c.1124G>A (p.Arg375His)
n.786G>A
c.3380G>A
c.6533G>A (p.Arg2178His)
c.6662G>A (p.Arg2221His)
c.6659G>A (p.Arg2220His)
c.6554G>A (p.Arg2185His)
c.6506G>A (p.Arg2169His)
c.6464G>A (p.Arg2155His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133017940G>CCA372233718TGc.6725G>C (p.Arg2242Pro)
c.168+74G>C
c.2091G>C
c.1124G>C (p.Arg375Pro)
n.786G>C
c.3380G>C
c.6533G>C (p.Arg2178Pro)
c.6662G>C (p.Arg2221Pro)
c.6659G>C (p.Arg2220Pro)
c.6554G>C (p.Arg2185Pro)
c.6506G>C (p.Arg2169Pro)
c.6464G>C (p.Arg2155Pro)
8g.133017940G=CA1821046397TGc.6725G= (p.Arg2242=)
c.168+74G=
c.2091G=
c.1124G= (p.Arg375=)
n.786G=
c.3380G=
c.6533G= (p.Arg2178=)
c.6662G= (p.Arg2221=)
c.6659G= (p.Arg2220=)
c.6554G= (p.Arg2185=)
c.6506G= (p.Arg2169=)
c.6464G= (p.Arg2155=)
8g.133017940G>TCA372233714TGc.6725G>T (p.Arg2242Leu)
c.168+74G>T
c.2091G>T
c.1124G>T (p.Arg375Leu)
n.786G>T
c.3380G>T
c.6533G>T (p.Arg2178Leu)
c.6662G>T (p.Arg2221Leu)
c.6659G>T (p.Arg2220Leu)
c.6554G>T (p.Arg2185Leu)
c.6506G>T (p.Arg2169Leu)
c.6464G>T (p.Arg2155Leu)
 gnomAD v4
8g.133017940_133017941insATTAGCATTGCATTCA2782274341TGc.6725_6726insATTAGCATTGCATT (p.Phe2243LeufsTer12)
c.168+74_168+75insATTAGCATTGCATT
c.2091_2092insATTAGCATTGCATT
c.1124_1125insATTAGCATTGCATT (p.Phe376LeufsTer12)
n.786_787insATTAGCATTGCATT
c.3380_3381insATTAGCATTGCATT
c.6533_6534insATTAGCATTGCATT (p.Phe2179LeufsTer12)
c.6662_6663insATTAGCATTGCATT (p.Phe2222LeufsTer12)
c.6659_6660insATTAGCATTGCATT (p.Phe2221LeufsTer12)
c.6554_6555insATTAGCATTGCATT (p.Phe2186LeufsTer12)
c.6506_6507insATTAGCATTGCATT (p.Phe2170LeufsTer12)
c.6464_6465insATTAGCATTGCATT (p.Phe2156LeufsTer12)
8g.133017941C>ACA463013018TGc.6726C>A (p.Arg2242=)
c.168+75C>A
c.2092C>A
c.1125C>A (p.Arg375=)
n.787C>A
c.3381C>A
c.6534C>A (p.Arg2178=)
c.6663C>A (p.Arg2221=)
c.6660C>A (p.Arg2220=)
c.6555C>A (p.Arg2185=)
c.6507C>A (p.Arg2169=)
c.6465C>A (p.Arg2155=)
8g.133017941C>GCA463013020TGc.6726C>G (p.Arg2242=)
c.168+75C>G
c.2092C>G
c.1125C>G (p.Arg375=)
n.787C>G
c.3381C>G
c.6534C>G (p.Arg2178=)
c.6663C>G (p.Arg2221=)
c.6660C>G (p.Arg2220=)
c.6555C>G (p.Arg2185=)
c.6507C>G (p.Arg2169=)
c.6465C>G (p.Arg2155=)
8g.133017941C>TCA463013019TGc.6726C>T (p.Arg2242=)
c.168+75C>T
c.2092C>T
c.1125C>T (p.Arg375=)
n.787C>T
c.3381C>T
c.6534C>T (p.Arg2178=)
c.6663C>T (p.Arg2221=)
c.6660C>T (p.Arg2220=)
c.6555C>T (p.Arg2185=)
c.6507C>T (p.Arg2169=)
c.6465C>T (p.Arg2155=)
8g.133017942T>ACA372233722TGc.6727T>A (p.Phe2243Ile)
c.168+76T>A
c.2093T>A
c.1126T>A (p.Phe376Ile)
n.788T>A
c.3382T>A
c.6535T>A (p.Phe2179Ile)
c.6664T>A (p.Phe2222Ile)
c.6661T>A (p.Phe2221Ile)
c.6556T>A (p.Phe2186Ile)
c.6508T>A (p.Phe2170Ile)
c.6466T>A (p.Phe2156Ile)
8g.133017942T>CCA372233724TGc.6727T>C (p.Phe2243Leu)
c.168+76T>C
c.2093T>C
c.1126T>C (p.Phe376Leu)
n.788T>C
c.3382T>C
c.6535T>C (p.Phe2179Leu)
c.6664T>C (p.Phe2222Leu)
c.6661T>C (p.Phe2221Leu)
c.6556T>C (p.Phe2186Leu)
c.6508T>C (p.Phe2170Leu)
c.6466T>C (p.Phe2156Leu)
8g.133017942T>GCA372233727TGc.6727T>G (p.Phe2243Val)
c.168+76T>G
c.2093T>G
c.1126T>G (p.Phe376Val)
n.788T>G
c.3382T>G
c.6535T>G (p.Phe2179Val)
c.6664T>G (p.Phe2222Val)
c.6661T>G (p.Phe2221Val)
c.6556T>G (p.Phe2186Val)
c.6508T>G (p.Phe2170Val)
c.6466T>G (p.Phe2156Val)
8g.133017942_133017943insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAACA2782274342TGc.6727_6728insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA (p.Phe2243CysfsTer24)
c.168+76_168+77insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA
c.2093_2094insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA
c.1126_1127insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA (p.Phe376CysfsTer24)
n.788_789insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA
c.3382_3383insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA
c.6535_6536insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA (p.Phe2179CysfsTer24)
c.6664_6665insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA (p.Phe2222CysfsTer24)
c.6661_6662insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA (p.Phe2221CysfsTer24)
c.6556_6557insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA (p.Phe2186CysfsTer24)
c.6508_6509insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA (p.Phe2170CysfsTer24)
c.6466_6467insGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAA (p.Phe2156CysfsTer24)
8g.133017943T>ACA372233730TGc.6728T>A (p.Phe2243Tyr)
c.168+77T>A
c.2094T>A
c.1127T>A (p.Phe376Tyr)
n.789T>A
c.3383T>A
c.6536T>A (p.Phe2179Tyr)
c.6665T>A (p.Phe2222Tyr)
c.6662T>A (p.Phe2221Tyr)
c.6557T>A (p.Phe2186Tyr)
c.6509T>A (p.Phe2170Tyr)
c.6467T>A (p.Phe2156Tyr)
8g.133017943T>CCA372233733TGc.6728T>C (p.Phe2243Ser)
c.168+77T>C
c.2094T>C
c.1127T>C (p.Phe376Ser)
n.789T>C
c.3383T>C
c.6536T>C (p.Phe2179Ser)
c.6665T>C (p.Phe2222Ser)
c.6662T>C (p.Phe2221Ser)
c.6557T>C (p.Phe2186Ser)
c.6509T>C (p.Phe2170Ser)
c.6467T>C (p.Phe2156Ser)
 gnomAD v4
8g.133017943T>GCA372233736TGc.6728T>G (p.Phe2243Cys)
c.168+77T>G
c.2094T>G
c.1127T>G (p.Phe376Cys)
n.789T>G
c.3383T>G
c.6536T>G (p.Phe2179Cys)
c.6665T>G (p.Phe2222Cys)
c.6662T>G (p.Phe2221Cys)
c.6557T>G (p.Phe2186Cys)
c.6509T>G (p.Phe2170Cys)
c.6467T>G (p.Phe2156Cys)
8g.133017944C>ACA372233737TGc.6729C>A (p.Phe2243Leu)
c.168+78C>A
c.2095C>A
c.1128C>A (p.Phe376Leu)
n.790C>A
c.3384C>A
c.6537C>A (p.Phe2179Leu)
c.6666C>A (p.Phe2222Leu)
c.6663C>A (p.Phe2221Leu)
c.6558C>A (p.Phe2186Leu)
c.6510C>A (p.Phe2170Leu)
c.6468C>A (p.Phe2156Leu)
8g.133017944C>GCA372233740TGc.6729C>G (p.Phe2243Leu)
c.168+78C>G
c.2095C>G
c.1128C>G (p.Phe376Leu)
n.790C>G
c.3384C>G
c.6537C>G (p.Phe2179Leu)
c.6666C>G (p.Phe2222Leu)
c.6663C>G (p.Phe2221Leu)
c.6558C>G (p.Phe2186Leu)
c.6510C>G (p.Phe2170Leu)
c.6468C>G (p.Phe2156Leu)
8g.133017944C>TCA463013025TGc.6729C>T (p.Phe2243=)
c.168+78C>T
c.2095C>T
c.1128C>T (p.Phe376=)
n.790C>T
c.3384C>T
c.6537C>T (p.Phe2179=)
c.6666C>T (p.Phe2222=)
c.6663C>T (p.Phe2221=)
c.6558C>T (p.Phe2186=)
c.6510C>T (p.Phe2170=)
c.6468C>T (p.Phe2156=)
8g.133017945C>ACA372233743TGc.6730C>A (p.Gln2244Lys)
c.168+79C>A
c.2096C>A
c.1129C>A (p.Gln377Lys)
n.791C>A
c.3385C>A
c.6538C>A (p.Gln2180Lys)
c.6667C>A (p.Gln2223Lys)
c.6664C>A (p.Gln2222Lys)
c.6559C>A (p.Gln2187Lys)
c.6511C>A (p.Gln2171Lys)
c.6469C>A (p.Gln2157Lys)
8g.133017945C>GCA372233745TGc.6730C>G (p.Gln2244Glu)
c.168+79C>G
c.2096C>G
c.1129C>G (p.Gln377Glu)
n.791C>G
c.3385C>G
c.6538C>G (p.Gln2180Glu)
c.6667C>G (p.Gln2223Glu)
c.6664C>G (p.Gln2222Glu)
c.6559C>G (p.Gln2187Glu)
c.6511C>G (p.Gln2171Glu)
c.6469C>G (p.Gln2157Glu)
8g.133017945C>TCA372233747TGc.6730C>T (p.Gln2244Ter)
c.168+79C>T
c.2096C>T
c.1129C>T (p.Gln377Ter)
n.791C>T
c.3385C>T
c.6538C>T (p.Gln2180Ter)
c.6667C>T (p.Gln2223Ter)
c.6664C>T (p.Gln2222Ter)
c.6559C>T (p.Gln2187Ter)
c.6511C>T (p.Gln2171Ter)
c.6469C>T (p.Gln2157Ter)
 ClinVar
8g.133017946A=CA1821046402TGc.6731A= (p.Gln2244=)
c.168+80A=
c.2097A=
c.1130A= (p.Gln377=)
n.792A=
c.3386A=
c.6539A= (p.Gln2180=)
c.6668A= (p.Gln2223=)
c.6665A= (p.Gln2222=)
c.6560A= (p.Gln2187=)
c.6512A= (p.Gln2171=)
c.6470A= (p.Gln2157=)
8g.133017946A>CCA372233751TGc.6731A>C (p.Gln2244Pro)
c.168+80A>C
c.2097A>C
c.1130A>C (p.Gln377Pro)
n.792A>C
c.3386A>C
c.6539A>C (p.Gln2180Pro)
c.6668A>C (p.Gln2223Pro)
c.6665A>C (p.Gln2222Pro)
c.6560A>C (p.Gln2187Pro)
c.6512A>C (p.Gln2171Pro)
c.6470A>C (p.Gln2157Pro)
8g.133017946A>GCA372233754TGc.6731A>G (p.Gln2244Arg)
c.168+80A>G
c.2097A>G
c.1130A>G (p.Gln377Arg)
n.792A>G
c.3386A>G
c.6539A>G (p.Gln2180Arg)
c.6668A>G (p.Gln2223Arg)
c.6665A>G (p.Gln2222Arg)
c.6560A>G (p.Gln2187Arg)
c.6512A>G (p.Gln2171Arg)
c.6470A>G (p.Gln2157Arg)
 dbSNP
8g.133017946A>TCA372233757TGc.6731A>T (p.Gln2244Leu)
c.168+80A>T
c.2097A>T
c.1130A>T (p.Gln377Leu)
n.792A>T
c.3386A>T
c.6539A>T (p.Gln2180Leu)
c.6668A>T (p.Gln2223Leu)
c.6665A>T (p.Gln2222Leu)
c.6560A>T (p.Gln2187Leu)
c.6512A>T (p.Gln2171Leu)
c.6470A>T (p.Gln2157Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.133017947G>ACA463013029TGc.6732G>A (p.Gln2244=)
c.168+81G>A
c.2098G>A
c.1131G>A (p.Gln377=)
n.793G>A
c.3387G>A
c.6540G>A (p.Gln2180=)
c.6669G>A (p.Gln2223=)
c.6666G>A (p.Gln2222=)
c.6561G>A (p.Gln2187=)
c.6513G>A (p.Gln2171=)
c.6471G>A (p.Gln2157=)
8g.133017947G>CCA372233763TGc.6732G>C (p.Gln2244His)
c.168+81G>C
c.2098G>C
c.1131G>C (p.Gln377His)
n.793G>C
c.3387G>C
c.6540G>C (p.Gln2180His)
c.6669G>C (p.Gln2223His)
c.6666G>C (p.Gln2222His)
c.6561G>C (p.Gln2187His)
c.6513G>C (p.Gln2171His)
c.6471G>C (p.Gln2157His)
 dbSNP gnomAD v3 gnomAD v4
8g.133017947G=CA1821046406TGc.6732G= (p.Gln2244=)
c.168+81G=
c.2098G=
c.1131G= (p.Gln377=)
n.793G=
c.3387G=
c.6540G= (p.Gln2180=)
c.6669G= (p.Gln2223=)
c.6666G= (p.Gln2222=)
c.6561G= (p.Gln2187=)
c.6513G= (p.Gln2171=)
c.6471G= (p.Gln2157=)
8g.133017947G>TCA372233766TGc.6732G>T (p.Gln2244His)
c.168+81G>T
c.2098G>T
c.1131G>T (p.Gln377His)
n.793G>T
c.3387G>T
c.6540G>T (p.Gln2180His)
c.6669G>T (p.Gln2223His)
c.6666G>T (p.Gln2222His)
c.6561G>T (p.Gln2187His)
c.6513G>T (p.Gln2171His)
c.6471G>T (p.Gln2157His)
8g.133017948G>ACA372233768TGc.6733G>A (p.Ala2245Thr)
c.168+82G>A
c.2099G>A
c.1132G>A (p.Ala378Thr)
n.794G>A
c.3388G>A
c.6541G>A (p.Ala2181Thr)
c.6670G>A (p.Ala2224Thr)
c.6667G>A (p.Ala2223Thr)
c.6562G>A (p.Ala2188Thr)
c.6514G>A (p.Ala2172Thr)
c.6472G>A (p.Ala2158Thr)
 gnomAD v4
8g.133017948G>CCA372233775TGc.6733G>C (p.Ala2245Pro)
c.168+82G>C
c.2099G>C
c.1132G>C (p.Ala378Pro)
n.794G>C
c.3388G>C
c.6541G>C (p.Ala2181Pro)
c.6670G>C (p.Ala2224Pro)
c.6667G>C (p.Ala2223Pro)
c.6562G>C (p.Ala2188Pro)
c.6514G>C (p.Ala2172Pro)
c.6472G>C (p.Ala2158Pro)
8g.133017948G>TCA372233772TGc.6733G>T (p.Ala2245Ser)
c.168+82G>T
c.2099G>T
c.1132G>T (p.Ala378Ser)
n.794G>T
c.3388G>T
c.6541G>T (p.Ala2181Ser)
c.6670G>T (p.Ala2224Ser)
c.6667G>T (p.Ala2223Ser)
c.6562G>T (p.Ala2188Ser)
c.6514G>T (p.Ala2172Ser)
c.6472G>T (p.Ala2158Ser)
8g.133017949C>ACA372233777TGc.6734C>A (p.Ala2245Glu)
c.168+83C>A
c.2100C>A
c.1133C>A (p.Ala378Glu)
n.795C>A
c.3389C>A
c.6542C>A (p.Ala2181Glu)
c.6671C>A (p.Ala2224Glu)
c.6668C>A (p.Ala2223Glu)
c.6563C>A (p.Ala2188Glu)
c.6515C>A (p.Ala2172Glu)
c.6473C>A (p.Ala2158Glu)
8g.133017949C=CA1821046409TGc.6734C= (p.Ala2245=)
c.168+83C=
c.2100C=
c.1133C= (p.Ala378=)
n.795C=
c.3389C=
c.6542C= (p.Ala2181=)
c.6671C= (p.Ala2224=)
c.6668C= (p.Ala2223=)
c.6563C= (p.Ala2188=)
c.6515C= (p.Ala2172=)
c.6473C= (p.Ala2158=)
8g.133017949C>GCA372233779TGc.6734C>G (p.Ala2245Gly)
c.168+83C>G
c.2100C>G
c.1133C>G (p.Ala378Gly)
n.795C>G
c.3389C>G
c.6542C>G (p.Ala2181Gly)
c.6671C>G (p.Ala2224Gly)
c.6668C>G (p.Ala2223Gly)
c.6563C>G (p.Ala2188Gly)
c.6515C>G (p.Ala2172Gly)
c.6473C>G (p.Ala2158Gly)
8g.133017949C>TCA372233782TGc.6734C>T (p.Ala2245Val)
c.168+83C>T
c.2100C>T
c.1133C>T (p.Ala378Val)
n.795C>T
c.3389C>T
c.6542C>T (p.Ala2181Val)
c.6671C>T (p.Ala2224Val)
c.6668C>T (p.Ala2223Val)
c.6563C>T (p.Ala2188Val)
c.6515C>T (p.Ala2172Val)
c.6473C>T (p.Ala2158Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133017950A>CCA463013032TGc.6735A>C (p.Ala2245=)
c.168+84A>C
c.2101A>C
c.1134A>C (p.Ala378=)
n.796A>C
c.3390A>C
c.6543A>C (p.Ala2181=)
c.6672A>C (p.Ala2224=)
c.6669A>C (p.Ala2223=)
c.6564A>C (p.Ala2188=)
c.6516A>C (p.Ala2172=)
c.6474A>C (p.Ala2158=)
8g.133017950A>GCA463013033TGc.6735A>G (p.Ala2245=)
c.168+84A>G
c.2101A>G
c.1134A>G (p.Ala378=)
n.796A>G
c.3390A>G
c.6543A>G (p.Ala2181=)
c.6672A>G (p.Ala2224=)
c.6669A>G (p.Ala2223=)
c.6564A>G (p.Ala2188=)
c.6516A>G (p.Ala2172=)
c.6474A>G (p.Ala2158=)
8g.133017950A>TCA463013034TGc.6735A>T (p.Ala2245=)
c.168+84A>T
c.2101A>T
c.1134A>T (p.Ala378=)
n.796A>T
c.3390A>T
c.6543A>T (p.Ala2181=)
c.6672A>T (p.Ala2224=)
c.6669A>T (p.Ala2223=)
c.6564A>T (p.Ala2188=)
c.6516A>T (p.Ala2172=)
c.6474A>T (p.Ala2158=)
8g.133017951C>ACA372233786TGc.6736C>A (p.Pro2246Thr)
c.168+85C>A
c.2102C>A
c.1135C>A (p.Pro379Thr)
n.797C>A
c.3391C>A
c.6544C>A (p.Pro2182Thr)
c.6673C>A (p.Pro2225Thr)
c.6670C>A (p.Pro2224Thr)
c.6565C>A (p.Pro2189Thr)
c.6517C>A (p.Pro2173Thr)
c.6475C>A (p.Pro2159Thr)
8g.133017951C>GCA372233789TGc.6736C>G (p.Pro2246Ala)
c.168+85C>G
c.2102C>G
c.1135C>G (p.Pro379Ala)
n.797C>G
c.3391C>G
c.6544C>G (p.Pro2182Ala)
c.6673C>G (p.Pro2225Ala)
c.6670C>G (p.Pro2224Ala)
c.6565C>G (p.Pro2189Ala)
c.6517C>G (p.Pro2173Ala)
c.6475C>G (p.Pro2159Ala)
8g.133017951C>TCA372233791TGc.6736C>T (p.Pro2246Ser)
c.168+85C>T
c.2102C>T
c.1135C>T (p.Pro379Ser)
n.797C>T
c.3391C>T
c.6544C>T (p.Pro2182Ser)
c.6673C>T (p.Pro2225Ser)
c.6670C>T (p.Pro2224Ser)
c.6565C>T (p.Pro2189Ser)
c.6517C>T (p.Pro2173Ser)
c.6475C>T (p.Pro2159Ser)
8g.133017952C>ACA372233795TGc.6737C>A (p.Pro2246Gln)
c.168+86C>A
c.2103C>A
c.1136C>A (p.Pro379Gln)
n.798C>A
c.3392C>A
c.6545C>A (p.Pro2182Gln)
c.6674C>A (p.Pro2225Gln)
c.6671C>A (p.Pro2224Gln)
c.6566C>A (p.Pro2189Gln)
c.6518C>A (p.Pro2173Gln)
c.6476C>A (p.Pro2159Gln)
8g.133017952C>GCA372233796TGc.6737C>G (p.Pro2246Arg)
c.168+86C>G
c.2103C>G
c.1136C>G (p.Pro379Arg)
n.798C>G
c.3392C>G
c.6545C>G (p.Pro2182Arg)
c.6674C>G (p.Pro2225Arg)
c.6671C>G (p.Pro2224Arg)
c.6566C>G (p.Pro2189Arg)
c.6518C>G (p.Pro2173Arg)
c.6476C>G (p.Pro2159Arg)
 gnomAD v4
8g.133017952C>TCA372233798TGc.6737C>T (p.Pro2246Leu)
c.168+86C>T
c.2103C>T
c.1136C>T (p.Pro379Leu)
n.798C>T
c.3392C>T
c.6545C>T (p.Pro2182Leu)
c.6674C>T (p.Pro2225Leu)
c.6671C>T (p.Pro2224Leu)
c.6566C>T (p.Pro2189Leu)
c.6518C>T (p.Pro2173Leu)
c.6476C>T (p.Pro2159Leu)
 gnomAD v4
8g.133017953A=CA1821046412TGc.6738A= (p.Pro2246=)
c.168+87A=
c.2104A=
c.1137A= (p.Pro379=)
n.799A=
c.3393A=
c.6546A= (p.Pro2182=)
c.6675A= (p.Pro2225=)
c.6672A= (p.Pro2224=)
c.6567A= (p.Pro2189=)
c.6519A= (p.Pro2173=)
c.6477A= (p.Pro2159=)
8g.133017953A>CCA463013038TGc.6738A>C (p.Pro2246=)
c.168+87A>C
c.2104A>C
c.1137A>C (p.Pro379=)
n.799A>C
c.3393A>C
c.6546A>C (p.Pro2182=)
c.6675A>C (p.Pro2225=)
c.6672A>C (p.Pro2224=)
c.6567A>C (p.Pro2189=)
c.6519A>C (p.Pro2173=)
c.6477A>C (p.Pro2159=)
8g.133017953A>GCA463013039TGc.6738A>G (p.Pro2246=)
c.168+87A>G
c.2104A>G
c.1137A>G (p.Pro379=)
n.799A>G
c.3393A>G
c.6546A>G (p.Pro2182=)
c.6675A>G (p.Pro2225=)
c.6672A>G (p.Pro2224=)
c.6567A>G (p.Pro2189=)
c.6519A>G (p.Pro2173=)
c.6477A>G (p.Pro2159=)
 dbSNP
8g.133017953A>TCA463013040TGc.6738A>T (p.Pro2246=)
c.168+87A>T
c.2104A>T
c.1137A>T (p.Pro379=)
n.799A>T
c.3393A>T
c.6546A>T (p.Pro2182=)
c.6675A>T (p.Pro2225=)
c.6672A>T (p.Pro2224=)
c.6567A>T (p.Pro2189=)
c.6519A>T (p.Pro2173=)
c.6477A>T (p.Pro2159=)
8g.133017954G>ACA372233802TGc.6739G>A (p.Glu2247Lys)
c.168+88G>A
c.2105G>A
c.1138G>A (p.Glu380Lys)
n.800G>A
c.3394G>A
c.6547G>A (p.Glu2183Lys)
c.6676G>A (p.Glu2226Lys)
c.6673G>A (p.Glu2225Lys)
c.6568G>A (p.Glu2190Lys)
c.6520G>A (p.Glu2174Lys)
c.6478G>A (p.Glu2160Lys)
8g.133017954G>CCA372233804TGc.6739G>C (p.Glu2247Gln)
c.168+88G>C
c.2105G>C
c.1138G>C (p.Glu380Gln)
n.800G>C
c.3394G>C
c.6547G>C (p.Glu2183Gln)
c.6676G>C (p.Glu2226Gln)
c.6673G>C (p.Glu2225Gln)
c.6568G>C (p.Glu2190Gln)
c.6520G>C (p.Glu2174Gln)
c.6478G>C (p.Glu2160Gln)
 gnomAD v4
8g.133017954G=CA1821046414TGc.6739G= (p.Glu2247=)
c.168+88G=
c.2105G=
c.1138G= (p.Glu380=)
n.800G=
c.3394G=
c.6547G= (p.Glu2183=)
c.6676G= (p.Glu2226=)
c.6673G= (p.Glu2225=)
c.6568G= (p.Glu2190=)
c.6520G= (p.Glu2174=)
c.6478G= (p.Glu2160=)
8g.133017954G>TCA372233806TGc.6739G>T (p.Glu2247Ter)
c.168+88G>T
c.2105G>T
c.1138G>T (p.Glu380Ter)
n.800G>T
c.3394G>T
c.6547G>T (p.Glu2183Ter)
c.6676G>T (p.Glu2226Ter)
c.6673G>T (p.Glu2225Ter)
c.6568G>T (p.Glu2190Ter)
c.6520G>T (p.Glu2174Ter)
c.6478G>T (p.Glu2160Ter)
 dbSNP gnomAD v2
8g.133017955A>CCA372233808TGc.6740A>C (p.Glu2247Ala)
c.168+89A>C
c.2106A>C
c.1139A>C (p.Glu380Ala)
n.801A>C
c.3395A>C
c.6548A>C (p.Glu2183Ala)
c.6677A>C (p.Glu2226Ala)
c.6674A>C (p.Glu2225Ala)
c.6569A>C (p.Glu2190Ala)
c.6521A>C (p.Glu2174Ala)
c.6479A>C (p.Glu2160Ala)
8g.133017955A>GCA372233812TGc.6740A>G (p.Glu2247Gly)
c.168+89A>G
c.2106A>G
c.1139A>G (p.Glu380Gly)
n.801A>G
c.3395A>G
c.6548A>G (p.Glu2183Gly)
c.6677A>G (p.Glu2226Gly)
c.6674A>G (p.Glu2225Gly)
c.6569A>G (p.Glu2190Gly)
c.6521A>G (p.Glu2174Gly)
c.6479A>G (p.Glu2160Gly)
8g.133017955A>TCA372233810TGc.6740A>T (p.Glu2247Val)
c.168+89A>T
c.2106A>T
c.1139A>T (p.Glu380Val)
n.801A>T
c.3395A>T
c.6548A>T (p.Glu2183Val)
c.6677A>T (p.Glu2226Val)
c.6674A>T (p.Glu2225Val)
c.6569A>T (p.Glu2190Val)
c.6521A>T (p.Glu2174Val)
c.6479A>T (p.Glu2160Val)
8g.133017956G>ACA463013044TGc.6741G>A (p.Glu2247=)
c.168+90G>A
c.2107G>A
c.1140G>A (p.Glu380=)
n.802G>A
c.3396G>A
c.6549G>A (p.Glu2183=)
c.6678G>A (p.Glu2226=)
c.6675G>A (p.Glu2225=)
c.6570G>A (p.Glu2190=)
c.6522G>A (p.Glu2174=)
c.6480G>A (p.Glu2160=)
8g.133017956G>CCA372233814TGc.6741G>C (p.Glu2247Asp)
c.168+90G>C
c.2107G>C
c.1140G>C (p.Glu380Asp)
n.802G>C
c.3396G>C
c.6549G>C (p.Glu2183Asp)
c.6678G>C (p.Glu2226Asp)
c.6675G>C (p.Glu2225Asp)
c.6570G>C (p.Glu2190Asp)
c.6522G>C (p.Glu2174Asp)
c.6480G>C (p.Glu2160Asp)
8g.133017956G>TCA372233817TGc.6741G>T (p.Glu2247Asp)
c.168+90G>T
c.2107G>T
c.1140G>T (p.Glu380Asp)
n.802G>T
c.3396G>T
c.6549G>T (p.Glu2183Asp)
c.6678G>T (p.Glu2226Asp)
c.6675G>T (p.Glu2225Asp)
c.6570G>T (p.Glu2190Asp)
c.6522G>T (p.Glu2174Asp)
c.6480G>T (p.Glu2160Asp)
8g.133017957C>ACA372233819TGc.6742C>A (p.Pro2248Thr)
c.168+91C>A
c.2108C>A
c.1141C>A (p.Pro381Thr)
n.803C>A
c.3397C>A
c.6550C>A (p.Pro2184Thr)
c.6679C>A (p.Pro2227Thr)
c.6676C>A (p.Pro2226Thr)
c.6571C>A (p.Pro2191Thr)
c.6523C>A (p.Pro2175Thr)
c.6481C>A (p.Pro2161Thr)
8g.133017957C>GCA372233821TGc.6742C>G (p.Pro2248Ala)
c.168+91C>G
c.2108C>G
c.1141C>G (p.Pro381Ala)
n.803C>G
c.3397C>G
c.6550C>G (p.Pro2184Ala)
c.6679C>G (p.Pro2227Ala)
c.6676C>G (p.Pro2226Ala)
c.6571C>G (p.Pro2191Ala)
c.6523C>G (p.Pro2175Ala)
c.6481C>G (p.Pro2161Ala)
8g.133017957C>TCA372233824TGc.6742C>T (p.Pro2248Ser)
c.168+91C>T
c.2108C>T
c.1141C>T (p.Pro381Ser)
n.803C>T
c.3397C>T
c.6550C>T (p.Pro2184Ser)
c.6679C>T (p.Pro2227Ser)
c.6676C>T (p.Pro2226Ser)
c.6571C>T (p.Pro2191Ser)
c.6523C>T (p.Pro2175Ser)
c.6481C>T (p.Pro2161Ser)
8g.133017958C>ACA372233827TGc.6743C>A (p.Pro2248His)
c.168+92C>A
c.2109C>A
c.1142C>A (p.Pro381His)
n.804C>A
c.3398C>A
c.6551C>A (p.Pro2184His)
c.6680C>A (p.Pro2227His)
c.6677C>A (p.Pro2226His)
c.6572C>A (p.Pro2191His)
c.6524C>A (p.Pro2175His)
c.6482C>A (p.Pro2161His)
8g.133017958C=CA1821046418TGc.6743C= (p.Pro2248=)
c.168+92C=
c.2109C=
c.1142C= (p.Pro381=)
n.804C=
c.3398C=
c.6551C= (p.Pro2184=)
c.6680C= (p.Pro2227=)
c.6677C= (p.Pro2226=)
c.6572C= (p.Pro2191=)
c.6524C= (p.Pro2175=)
c.6482C= (p.Pro2161=)
8g.133017958C>GCA372233830TGc.6743C>G (p.Pro2248Arg)
c.168+92C>G
c.2109C>G
c.1142C>G (p.Pro381Arg)
n.804C>G
c.3398C>G
c.6551C>G (p.Pro2184Arg)
c.6680C>G (p.Pro2227Arg)
c.6677C>G (p.Pro2226Arg)
c.6572C>G (p.Pro2191Arg)
c.6524C>G (p.Pro2175Arg)
c.6482C>G (p.Pro2161Arg)
8g.133017958C>TCA372233832TGc.6743C>T (p.Pro2248Leu)
c.168+92C>T
c.2109C>T
c.1142C>T (p.Pro381Leu)
n.804C>T
c.3398C>T
c.6551C>T (p.Pro2184Leu)
c.6680C>T (p.Pro2227Leu)
c.6677C>T (p.Pro2226Leu)
c.6572C>T (p.Pro2191Leu)
c.6524C>T (p.Pro2175Leu)
c.6482C>T (p.Pro2161Leu)
 dbSNP
8g.133017959C>ACA463013053TGc.6744C>A (p.Pro2248=)
c.168+93C>A
c.2110C>A
c.1143C>A (p.Pro381=)
n.805C>A
c.3399C>A
c.6552C>A (p.Pro2184=)
c.6681C>A (p.Pro2227=)
c.6678C>A (p.Pro2226=)
c.6573C>A (p.Pro2191=)
c.6525C>A (p.Pro2175=)
c.6483C>A (p.Pro2161=)
8g.133017959C>GCA463013049TGc.6744C>G (p.Pro2248=)
c.168+93C>G
c.2110C>G
c.1143C>G (p.Pro381=)
n.805C>G
c.3399C>G
c.6552C>G (p.Pro2184=)
c.6681C>G (p.Pro2227=)
c.6678C>G (p.Pro2226=)
c.6573C>G (p.Pro2191=)
c.6525C>G (p.Pro2175=)
c.6483C>G (p.Pro2161=)
8g.133017959C>TCA463013051TGc.6744C>T (p.Pro2248=)
c.168+93C>T
c.2110C>T
c.1143C>T (p.Pro381=)
n.805C>T
c.3399C>T
c.6552C>T (p.Pro2184=)
c.6681C>T (p.Pro2227=)
c.6678C>T (p.Pro2226=)
c.6573C>T (p.Pro2191=)
c.6525C>T (p.Pro2175=)
c.6483C>T (p.Pro2161=)
8g.133017960T>ACA372233834TGc.6745T>A (p.Leu2249Met)
c.168+94T>A
c.2111T>A
c.1144T>A (p.Leu382Met)
n.806T>A
c.3400T>A
c.6553T>A (p.Leu2185Met)
c.6682T>A (p.Leu2228Met)
c.6679T>A (p.Leu2227Met)
c.6574T>A (p.Leu2192Met)
c.6526T>A (p.Leu2176Met)
c.6484T>A (p.Leu2162Met)
8g.133017960T>CCA463013056TGc.6745T>C (p.Leu2249=)
c.168+94T>C
c.2111T>C
c.1144T>C (p.Leu382=)
n.806T>C
c.3400T>C
c.6553T>C (p.Leu2185=)
c.6682T>C (p.Leu2228=)
c.6679T>C (p.Leu2227=)
c.6574T>C (p.Leu2192=)
c.6526T>C (p.Leu2176=)
c.6484T>C (p.Leu2162=)
8g.133017960T>GCA372233837TGc.6745T>G (p.Leu2249Val)
c.168+94T>G
c.2111T>G
c.1144T>G (p.Leu382Val)
n.806T>G
c.3400T>G
c.6553T>G (p.Leu2185Val)
c.6682T>G (p.Leu2228Val)
c.6679T>G (p.Leu2227Val)
c.6574T>G (p.Leu2192Val)
c.6526T>G (p.Leu2176Val)
c.6484T>G (p.Leu2162Val)
8g.133017961T>ACA372233841TGc.6746T>A (p.Leu2249Ter)
c.168+95T>A
c.2112T>A
c.1145T>A (p.Leu382Ter)
n.807T>A
c.3401T>A
c.6554T>A (p.Leu2185Ter)
c.6683T>A (p.Leu2228Ter)
c.6680T>A (p.Leu2227Ter)
c.6575T>A (p.Leu2192Ter)
c.6527T>A (p.Leu2176Ter)
c.6485T>A (p.Leu2162Ter)
8g.133017961T>CCA372233843TGc.6746T>C (p.Leu2249Ser)
c.168+95T>C
c.2112T>C
c.1145T>C (p.Leu382Ser)
n.807T>C
c.3401T>C
c.6554T>C (p.Leu2185Ser)
c.6683T>C (p.Leu2228Ser)
c.6680T>C (p.Leu2227Ser)
c.6575T>C (p.Leu2192Ser)
c.6527T>C (p.Leu2176Ser)
c.6485T>C (p.Leu2162Ser)
8g.133017961T>GCA372233839TGc.6746T>G (p.Leu2249Trp)
c.168+95T>G
c.2112T>G
c.1145T>G (p.Leu382Trp)
n.807T>G
c.3401T>G
c.6554T>G (p.Leu2185Trp)
c.6683T>G (p.Leu2228Trp)
c.6680T>G (p.Leu2227Trp)
c.6575T>G (p.Leu2192Trp)
c.6527T>G (p.Leu2176Trp)
c.6485T>G (p.Leu2162Trp)
8g.133017962G>ACA463013058TGc.6747G>A (p.Leu2249=)
c.168+96G>A
c.2113G>A
c.1146G>A (p.Leu382=)
n.808G>A
c.3402G>A
c.6555G>A (p.Leu2185=)
c.6684G>A (p.Leu2228=)
c.6681G>A (p.Leu2227=)
c.6576G>A (p.Leu2192=)
c.6528G>A (p.Leu2176=)
c.6486G>A (p.Leu2162=)
 COSMIC
8g.133017962G>CCA372233845TGc.6747G>C (p.Leu2249Phe)
c.168+96G>C
c.2113G>C
c.1146G>C (p.Leu382Phe)
n.808G>C
c.3402G>C
c.6555G>C (p.Leu2185Phe)
c.6684G>C (p.Leu2228Phe)
c.6681G>C (p.Leu2227Phe)
c.6576G>C (p.Leu2192Phe)
c.6528G>C (p.Leu2176Phe)
c.6486G>C (p.Leu2162Phe)
8g.133017962G>TCA372233847TGc.6747G>T (p.Leu2249Phe)
c.168+96G>T
c.2113G>T
c.1146G>T (p.Leu382Phe)
n.808G>T
c.3402G>T
c.6555G>T (p.Leu2185Phe)
c.6684G>T (p.Leu2228Phe)
c.6681G>T (p.Leu2227Phe)
c.6576G>T (p.Leu2192Phe)
c.6528G>T (p.Leu2176Phe)
c.6486G>T (p.Leu2162Phe)
 gnomAD v4
8g.133017963A=CA1821046421TGc.6748A= (p.Asn2250=)
c.168+97A=
c.2114A=
c.1147A= (p.Asn383=)
n.809A=
c.3403A=
c.6556A= (p.Asn2186=)
c.6685A= (p.Asn2229=)
c.6682A= (p.Asn2228=)
c.6577A= (p.Asn2193=)
c.6529A= (p.Asn2177=)
c.6487A= (p.Asn2163=)
8g.133017963A>CCA4885013TGc.6748A>C (p.Asn2250His)
c.168+97A>C
c.2114A>C
c.1147A>C (p.Asn383His)
n.809A>C
c.3403A>C
c.6556A>C (p.Asn2186His)
c.6685A>C (p.Asn2229His)
c.6682A>C (p.Asn2228His)
c.6577A>C (p.Asn2193His)
c.6529A>C (p.Asn2177His)
c.6487A>C (p.Asn2163His)
 dbSNP ExAC gnomAD v2
8g.133017963A>GCA372233850TGc.6748A>G (p.Asn2250Asp)
c.168+97A>G
c.2114A>G
c.1147A>G (p.Asn383Asp)
n.809A>G
c.3403A>G
c.6556A>G (p.Asn2186Asp)
c.6685A>G (p.Asn2229Asp)
c.6682A>G (p.Asn2228Asp)
c.6577A>G (p.Asn2193Asp)
c.6529A>G (p.Asn2177Asp)
c.6487A>G (p.Asn2163Asp)
8g.133017963A>TCA372233852TGc.6748A>T (p.Asn2250Tyr)
c.168+97A>T
c.2114A>T
c.1147A>T (p.Asn383Tyr)
n.809A>T
c.3403A>T
c.6556A>T (p.Asn2186Tyr)
c.6685A>T (p.Asn2229Tyr)
c.6682A>T (p.Asn2228Tyr)
c.6577A>T (p.Asn2193Tyr)
c.6529A>T (p.Asn2177Tyr)
c.6487A>T (p.Asn2163Tyr)
8g.133017964A>CCA372233855TGc.6749A>C (p.Asn2250Thr)
c.168+98A>C
c.2115A>C
c.1148A>C (p.Asn383Thr)
n.810A>C
c.3404A>C
c.6557A>C (p.Asn2186Thr)
c.6686A>C (p.Asn2229Thr)
c.6683A>C (p.Asn2228Thr)
c.6578A>C (p.Asn2193Thr)
c.6530A>C (p.Asn2177Thr)
c.6488A>C (p.Asn2163Thr)
8g.133017964A>GCA372233856TGc.6749A>G (p.Asn2250Ser)
c.168+98A>G
c.2115A>G
c.1148A>G (p.Asn383Ser)
n.810A>G
c.3404A>G
c.6557A>G (p.Asn2186Ser)
c.6686A>G (p.Asn2229Ser)
c.6683A>G (p.Asn2228Ser)
c.6578A>G (p.Asn2193Ser)
c.6530A>G (p.Asn2177Ser)
c.6488A>G (p.Asn2163Ser)
8g.133017964A>TCA372233857TGc.6749A>T (p.Asn2250Ile)
c.168+98A>T
c.2115A>T
c.1148A>T (p.Asn383Ile)
n.810A>T
c.3404A>T
c.6557A>T (p.Asn2186Ile)
c.6686A>T (p.Asn2229Ile)
c.6683A>T (p.Asn2228Ile)
c.6578A>T (p.Asn2193Ile)
c.6530A>T (p.Asn2177Ile)
c.6488A>T (p.Asn2163Ile)
8g.133017965C>ACA372233859TGc.6750C>A (p.Asn2250Lys)
c.168+99C>A
c.2116C>A
c.1149C>A (p.Asn383Lys)
n.811C>A
c.3405C>A
c.6558C>A (p.Asn2186Lys)
c.6687C>A (p.Asn2229Lys)
c.6684C>A (p.Asn2228Lys)
c.6579C>A (p.Asn2193Lys)
c.6531C>A (p.Asn2177Lys)
c.6489C>A (p.Asn2163Lys)
8g.133017965C=CA1821046426TGc.6750C= (p.Asn2250=)
c.168+99C=
c.2116C=
c.1149C= (p.Asn383=)
n.811C=
c.3405C=
c.6558C= (p.Asn2186=)
c.6687C= (p.Asn2229=)
c.6684C= (p.Asn2228=)
c.6579C= (p.Asn2193=)
c.6531C= (p.Asn2177=)
c.6489C= (p.Asn2163=)
8g.133017965C>GCA372233861TGc.6750C>G (p.Asn2250Lys)
c.168+99C>G
c.2116C>G
c.1149C>G (p.Asn383Lys)
n.811C>G
c.3405C>G
c.6558C>G (p.Asn2186Lys)
c.6687C>G (p.Asn2229Lys)
c.6684C>G (p.Asn2228Lys)
c.6579C>G (p.Asn2193Lys)
c.6531C>G (p.Asn2177Lys)
c.6489C>G (p.Asn2163Lys)
 dbSNP
8g.133017965C>TCA463013064TGc.6750C>T (p.Asn2250=)
c.168+99C>T
c.2116C>T
c.1149C>T (p.Asn383=)
n.811C>T
c.3405C>T
c.6558C>T (p.Asn2186=)
c.6687C>T (p.Asn2229=)
c.6684C>T (p.Asn2228=)
c.6579C>T (p.Asn2193=)
c.6531C>T (p.Asn2177=)
c.6489C>T (p.Asn2163=)
8g.133017966T>ACA372233863TGc.6751T>A (p.Trp2251Arg)
c.168+100T>A
c.2117T>A
c.1150T>A (p.Trp384Arg)
n.812T>A
c.3406T>A
c.6559T>A (p.Trp2187Arg)
c.6688T>A (p.Trp2230Arg)
c.6685T>A (p.Trp2229Arg)
c.6580T>A (p.Trp2194Arg)
c.6532T>A (p.Trp2178Arg)
c.6490T>A (p.Trp2164Arg)
8g.133017966T>CCA372233864TGc.6751T>C (p.Trp2251Arg)
c.168+100T>C
c.2117T>C
c.1150T>C (p.Trp384Arg)
n.812T>C
c.3406T>C
c.6559T>C (p.Trp2187Arg)
c.6688T>C (p.Trp2230Arg)
c.6685T>C (p.Trp2229Arg)
c.6580T>C (p.Trp2194Arg)
c.6532T>C (p.Trp2178Arg)
c.6490T>C (p.Trp2164Arg)
 dbSNP
8g.133017966T>GCA372233865TGc.6751T>G (p.Trp2251Gly)
c.168+100T>G
c.2117T>G
c.1150T>G (p.Trp384Gly)
n.812T>G
c.3406T>G
c.6559T>G (p.Trp2187Gly)
c.6688T>G (p.Trp2230Gly)
c.6685T>G (p.Trp2229Gly)
c.6580T>G (p.Trp2194Gly)
c.6532T>G (p.Trp2178Gly)
c.6490T>G (p.Trp2164Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.133017966T=CA1821046431TGc.6751T= (p.Trp2251=)
c.168+100T=
c.2117T=
c.1150T= (p.Trp384=)
n.812T=
c.3406T=
c.6559T= (p.Trp2187=)
c.6688T= (p.Trp2230=)
c.6685T= (p.Trp2229=)
c.6580T= (p.Trp2194=)
c.6532T= (p.Trp2178=)
c.6490T= (p.Trp2164=)
8g.133017967G>ACA186291144TGc.6752G>A (p.Trp2251Ter)
c.168+101G>A
c.2118G>A
c.1151G>A (p.Trp384Ter)
n.813G>A
c.3407G>A
c.6560G>A (p.Trp2187Ter)
c.6689G>A (p.Trp2230Ter)
c.6686G>A (p.Trp2229Ter)
c.6581G>A (p.Trp2194Ter)
c.6533G>A (p.Trp2178Ter)
c.6491G>A (p.Trp2164Ter)
 dbSNP
8g.133017967G>CCA372233867TGc.6752G>C (p.Trp2251Ser)
c.168+101G>C
c.2118G>C
c.1151G>C (p.Trp384Ser)
n.813G>C
c.3407G>C
c.6560G>C (p.Trp2187Ser)
c.6689G>C (p.Trp2230Ser)
c.6686G>C (p.Trp2229Ser)
c.6581G>C (p.Trp2194Ser)
c.6533G>C (p.Trp2178Ser)
c.6491G>C (p.Trp2164Ser)
8g.133017967G=CA1821046433TGc.6752G= (p.Trp2251=)
c.168+101G=
c.2118G=
c.1151G= (p.Trp384=)
n.813G=
c.3407G=
c.6560G= (p.Trp2187=)
c.6689G= (p.Trp2230=)
c.6686G= (p.Trp2229=)
c.6581G= (p.Trp2194=)
c.6533G= (p.Trp2178=)
c.6491G= (p.Trp2164=)
8g.133017967G>TCA372233866TGc.6752G>T (p.Trp2251Leu)
c.168+101G>T
c.2118G>T
c.1151G>T (p.Trp384Leu)
n.813G>T
c.3407G>T
c.6560G>T (p.Trp2187Leu)
c.6689G>T (p.Trp2230Leu)
c.6686G>T (p.Trp2229Leu)
c.6581G>T (p.Trp2194Leu)
c.6533G>T (p.Trp2178Leu)
c.6491G>T (p.Trp2164Leu)
8g.133017968G>ACA372233868TGc.6753G>A (p.Trp2251Ter)
c.168+102G>A
c.2119G>A
c.1152G>A (p.Trp384Ter)
c.3408G>A
c.6561G>A (p.Trp2187Ter)
c.6690G>A (p.Trp2230Ter)
c.6687G>A (p.Trp2229Ter)
c.6582G>A (p.Trp2194Ter)
c.6534G>A (p.Trp2178Ter)
c.6492G>A (p.Trp2164Ter)
8g.133017968G>CCA372233869TGc.6753G>C (p.Trp2251Cys)
c.168+102G>C
c.2119G>C
c.1152G>C (p.Trp384Cys)
c.3408G>C
c.6561G>C (p.Trp2187Cys)
c.6690G>C (p.Trp2230Cys)
c.6687G>C (p.Trp2229Cys)
c.6582G>C (p.Trp2194Cys)
c.6534G>C (p.Trp2178Cys)
c.6492G>C (p.Trp2164Cys)
8g.133017968G>TCA372233870TGc.6753G>T (p.Trp2251Cys)
c.168+102G>T
c.2119G>T
c.1152G>T (p.Trp384Cys)
c.3408G>T
c.6561G>T (p.Trp2187Cys)
c.6690G>T (p.Trp2230Cys)
c.6687G>T (p.Trp2229Cys)
c.6582G>T (p.Trp2194Cys)
c.6534G>T (p.Trp2178Cys)
c.6492G>T (p.Trp2164Cys)
8g.133017969A>CCA372233871TGc.6754A>C (p.Thr2252Pro)
c.168+103A>C
c.2120A>C
c.1153A>C (p.Thr385Pro)
c.3409A>C
c.6562A>C (p.Thr2188Pro)
c.6691A>C (p.Thr2231Pro)
c.6688A>C (p.Thr2230Pro)
c.6583A>C (p.Thr2195Pro)
c.6535A>C (p.Thr2179Pro)
c.6493A>C (p.Thr2165Pro)
8g.133017969A>GCA372233872TGc.6754A>G (p.Thr2252Ala)
c.168+103A>G
c.2120A>G
c.1153A>G (p.Thr385Ala)
c.3409A>G
c.6562A>G (p.Thr2188Ala)
c.6691A>G (p.Thr2231Ala)
c.6688A>G (p.Thr2230Ala)
c.6583A>G (p.Thr2195Ala)
c.6535A>G (p.Thr2179Ala)
c.6493A>G (p.Thr2165Ala)
8g.133017969A>TCA372233873TGc.6754A>T (p.Thr2252Ser)
c.168+103A>T
c.2120A>T
c.1153A>T (p.Thr385Ser)
c.3409A>T
c.6562A>T (p.Thr2188Ser)
c.6691A>T (p.Thr2231Ser)
c.6688A>T (p.Thr2230Ser)
c.6583A>T (p.Thr2195Ser)
c.6535A>T (p.Thr2179Ser)
c.6493A>T (p.Thr2165Ser)
8g.133017970C>ACA372233874TGc.6755C>A (p.Thr2252Lys)
c.168+104C>A
c.2121C>A
c.1154C>A (p.Thr385Lys)
c.3410C>A
c.6563C>A (p.Thr2188Lys)
c.6692C>A (p.Thr2231Lys)
c.6689C>A (p.Thr2230Lys)
c.6584C>A (p.Thr2195Lys)
c.6536C>A (p.Thr2179Lys)
c.6494C>A (p.Thr2165Lys)
8g.133017970C>GCA372233875TGc.6755C>G (p.Thr2252Arg)
c.168+104C>G
c.2121C>G
c.1154C>G (p.Thr385Arg)
c.3410C>G
c.6563C>G (p.Thr2188Arg)
c.6692C>G (p.Thr2231Arg)
c.6689C>G (p.Thr2230Arg)
c.6584C>G (p.Thr2195Arg)
c.6536C>G (p.Thr2179Arg)
c.6494C>G (p.Thr2165Arg)
8g.133017970C>TCA372233876TGc.6755C>T (p.Thr2252Ile)
c.168+104C>T
c.2121C>T
c.1154C>T (p.Thr385Ile)
c.3410C>T
c.6563C>T (p.Thr2188Ile)
c.6692C>T (p.Thr2231Ile)
c.6689C>T (p.Thr2230Ile)
c.6584C>T (p.Thr2195Ile)
c.6536C>T (p.Thr2179Ile)
c.6494C>T (p.Thr2165Ile)
 gnomAD v4
8g.133017971A>CCA463013066TGc.6756A>C (p.Thr2252=)
c.168+105A>C
c.2122A>C
c.1155A>C (p.Thr385=)
c.3411A>C
c.6564A>C (p.Thr2188=)
c.6693A>C (p.Thr2231=)
c.6690A>C (p.Thr2230=)
c.6585A>C (p.Thr2195=)
c.6537A>C (p.Thr2179=)
c.6495A>C (p.Thr2165=)
8g.133017971A>GCA463013068TGc.6756A>G (p.Thr2252=)
c.168+105A>G
c.2122A>G
c.1155A>G (p.Thr385=)
c.3411A>G
c.6564A>G (p.Thr2188=)
c.6693A>G (p.Thr2231=)
c.6690A>G (p.Thr2230=)
c.6585A>G (p.Thr2195=)
c.6537A>G (p.Thr2179=)
c.6495A>G (p.Thr2165=)
8g.133017971A>TCA463013071TGc.6756A>T (p.Thr2252=)
c.168+105A>T
c.2122A>T
c.1155A>T (p.Thr385=)
c.3411A>T
c.6564A>T (p.Thr2188=)
c.6693A>T (p.Thr2231=)
c.6690A>T (p.Thr2230=)
c.6585A>T (p.Thr2195=)
c.6537A>T (p.Thr2179=)
c.6495A>T (p.Thr2165=)
8g.133017972G>ACA372233877TGc.6757G>A (p.Gly2253Ser)
c.168+106G>A
c.2123G>A
c.1156G>A (p.Gly386Ser)
c.3412G>A
c.6565G>A (p.Gly2189Ser)
c.6694G>A (p.Gly2232Ser)
c.6691G>A (p.Gly2231Ser)
c.6586G>A (p.Gly2196Ser)
c.6538G>A (p.Gly2180Ser)
c.6496G>A (p.Gly2166Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.133017972G>CCA372233878TGc.6757G>C (p.Gly2253Arg)
c.168+106G>C
c.2123G>C
c.1156G>C (p.Gly386Arg)
c.3412G>C
c.6565G>C (p.Gly2189Arg)
c.6694G>C (p.Gly2232Arg)
c.6691G>C (p.Gly2231Arg)
c.6586G>C (p.Gly2196Arg)
c.6538G>C (p.Gly2180Arg)
c.6496G>C (p.Gly2166Arg)
8g.133017972G=CA1821046435TGc.6757G= (p.Gly2253=)
c.168+106G=
c.2123G=
c.1156G= (p.Gly386=)
c.3412G=
c.6565G= (p.Gly2189=)
c.6694G= (p.Gly2232=)
c.6691G= (p.Gly2231=)
c.6586G= (p.Gly2196=)
c.6538G= (p.Gly2180=)
c.6496G= (p.Gly2166=)
8g.133017972G>TCA372233879TGc.6757G>T (p.Gly2253Cys)
c.168+106G>T
c.2123G>T
c.1156G>T (p.Gly386Cys)
c.3412G>T
c.6565G>T (p.Gly2189Cys)
c.6694G>T (p.Gly2232Cys)
c.6691G>T (p.Gly2231Cys)
c.6586G>T (p.Gly2196Cys)
c.6538G>T (p.Gly2180Cys)
c.6496G>T (p.Gly2166Cys)
8g.133017974_133017980delCA2695210296TGc.6759_6765del (p.Ser2254MetfsTer?)
c.168+108_168+114del
c.2125_2131del
c.1158_1164del (p.Ser387MetfsTer?)
c.3414_3420del
c.6567_6573del (p.Ser2190MetfsTer?)
c.6696_6702del (p.Ser2233MetfsTer?)
c.6693_6699del (p.Ser2232MetfsTer?)
c.6588_6594del (p.Ser2197MetfsTer?)
c.6540_6546del (p.Ser2181MetfsTer?)
c.6498_6504del (p.Ser2167MetfsTer?)
8g.133017973G>ACA372233880TGc.6758G>A (p.Gly2253Asp)
c.168+107G>A
c.2124G>A
c.1157G>A (p.Gly386Asp)
c.3413G>A
c.6566G>A (p.Gly2189Asp)
c.6695G>A (p.Gly2232Asp)
c.6692G>A (p.Gly2231Asp)
c.6587G>A (p.Gly2196Asp)
c.6539G>A (p.Gly2180Asp)
c.6497G>A (p.Gly2166Asp)
8g.133017973G>CCA372233882TGc.6758G>C (p.Gly2253Ala)
c.168+107G>C
c.2124G>C
c.1157G>C (p.Gly386Ala)
c.3413G>C
c.6566G>C (p.Gly2189Ala)
c.6695G>C (p.Gly2232Ala)
c.6692G>C (p.Gly2231Ala)
c.6587G>C (p.Gly2196Ala)
c.6539G>C (p.Gly2180Ala)
c.6497G>C (p.Gly2166Ala)
8g.133017973G>TCA372233881TGc.6758G>T (p.Gly2253Val)
c.168+107G>T
c.2124G>T
c.1157G>T (p.Gly386Val)
c.3413G>T
c.6566G>T (p.Gly2189Val)
c.6695G>T (p.Gly2232Val)
c.6692G>T (p.Gly2231Val)
c.6587G>T (p.Gly2196Val)
c.6539G>T (p.Gly2180Val)
c.6497G>T (p.Gly2166Val)
 gnomAD v4 COSMIC
8g.133017974C>ACA4885014TGc.6759C>A (p.Gly2253=)
c.168+108C>A
c.2125C>A
c.1158C>A (p.Gly386=)
c.3414C>A
c.6567C>A (p.Gly2189=)
c.6696C>A (p.Gly2232=)
c.6693C>A (p.Gly2231=)
c.6588C>A (p.Gly2196=)
c.6540C>A (p.Gly2180=)
c.6498C>A (p.Gly2166=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133017974C=CA1821046440TGc.6759C= (p.Gly2253=)
c.168+108C=
c.2125C=
c.1158C= (p.Gly386=)
c.3414C=
c.6567C= (p.Gly2189=)
c.6696C= (p.Gly2232=)
c.6693C= (p.Gly2231=)
c.6588C= (p.Gly2196=)
c.6540C= (p.Gly2180=)
c.6498C= (p.Gly2166=)
8g.133017974C>GCA463013073TGc.6759C>G (p.Gly2253=)
c.168+108C>G
c.2125C>G
c.1158C>G (p.Gly386=)
c.3414C>G
c.6567C>G (p.Gly2189=)
c.6696C>G (p.Gly2232=)
c.6693C>G (p.Gly2231=)
c.6588C>G (p.Gly2196=)
c.6540C>G (p.Gly2180=)
c.6498C>G (p.Gly2166=)
 gnomAD v4
8g.133017974C>TCA463013074TGc.6759C>T (p.Gly2253=)
c.168+108C>T
c.2125C>T
c.1158C>T (p.Gly386=)
c.3414C>T
c.6567C>T (p.Gly2189=)
c.6696C>T (p.Gly2232=)
c.6693C>T (p.Gly2231=)
c.6588C>T (p.Gly2196=)
c.6540C>T (p.Gly2180=)
c.6498C>T (p.Gly2166=)
 gnomAD v4
8g.133017975T>ACA372233884TGc.6760T>A (p.Ser2254Thr)
c.168+109T>A
c.2126T>A
c.1159T>A (p.Ser387Thr)
c.3415T>A
c.6568T>A (p.Ser2190Thr)
c.6697T>A (p.Ser2233Thr)
c.6694T>A (p.Ser2232Thr)
c.6589T>A (p.Ser2197Thr)
c.6541T>A (p.Ser2181Thr)
c.6499T>A (p.Ser2167Thr)
8g.133017975T>CCA372233883TGc.6760T>C (p.Ser2254Pro)
c.168+109T>C
c.2126T>C
c.1159T>C (p.Ser387Pro)
c.3415T>C
c.6568T>C (p.Ser2190Pro)
c.6697T>C (p.Ser2233Pro)
c.6694T>C (p.Ser2232Pro)
c.6589T>C (p.Ser2197Pro)
c.6541T>C (p.Ser2181Pro)
c.6499T>C (p.Ser2167Pro)
 gnomAD v4
8g.133017975T>GCA372233885TGc.6760T>G (p.Ser2254Ala)
c.168+109T>G
c.2126T>G
c.1159T>G (p.Ser387Ala)
c.3415T>G
c.6568T>G (p.Ser2190Ala)
c.6697T>G (p.Ser2233Ala)
c.6694T>G (p.Ser2232Ala)
c.6589T>G (p.Ser2197Ala)
c.6541T>G (p.Ser2181Ala)
c.6499T>G (p.Ser2167Ala)
8g.133017976C>ACA372233886TGc.6761C>A (p.Ser2254Tyr)
c.168+110C>A
c.2127C>A
c.1160C>A (p.Ser387Tyr)
c.3416C>A
c.6569C>A (p.Ser2190Tyr)
c.6698C>A (p.Ser2233Tyr)
c.6695C>A (p.Ser2232Tyr)
c.6590C>A (p.Ser2197Tyr)
c.6542C>A (p.Ser2181Tyr)
c.6500C>A (p.Ser2167Tyr)
8g.133017976C=CA1821046442TGc.6761C= (p.Ser2254=)
c.168+110C=
c.2127C=
c.1160C= (p.Ser387=)
c.3416C=
c.6569C= (p.Ser2190=)
c.6698C= (p.Ser2233=)
c.6695C= (p.Ser2232=)
c.6590C= (p.Ser2197=)
c.6542C= (p.Ser2181=)
c.6500C= (p.Ser2167=)
8g.133017976C>GCA372233888TGc.6761C>G (p.Ser2254Cys)
c.168+110C>G
c.2127C>G
c.1160C>G (p.Ser387Cys)
c.3416C>G
c.6569C>G (p.Ser2190Cys)
c.6698C>G (p.Ser2233Cys)
c.6695C>G (p.Ser2232Cys)
c.6590C>G (p.Ser2197Cys)
c.6542C>G (p.Ser2181Cys)
c.6500C>G (p.Ser2167Cys)
8g.133017976C>TCA372233887TGc.6761C>T (p.Ser2254Phe)
c.168+110C>T
c.2127C>T
c.1160C>T (p.Ser387Phe)
c.3416C>T
c.6569C>T (p.Ser2190Phe)
c.6698C>T (p.Ser2233Phe)
c.6695C>T (p.Ser2232Phe)
c.6590C>T (p.Ser2197Phe)
c.6542C>T (p.Ser2181Phe)
c.6500C>T (p.Ser2167Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133017977C>ACA463013080TGc.6762C>A (p.Ser2254=)
c.168+111C>A
c.2128C>A
c.1161C>A (p.Ser387=)
c.3417C>A
c.6570C>A (p.Ser2190=)
c.6699C>A (p.Ser2233=)
c.6696C>A (p.Ser2232=)
c.6591C>A (p.Ser2197=)
c.6543C>A (p.Ser2181=)
c.6501C>A (p.Ser2167=)
8g.133017977C>GCA463013081TGc.6762C>G (p.Ser2254=)
c.168+111C>G
c.2128C>G
c.1161C>G (p.Ser387=)
c.3417C>G
c.6570C>G (p.Ser2190=)
c.6699C>G (p.Ser2233=)
c.6696C>G (p.Ser2232=)
c.6591C>G (p.Ser2197=)
c.6543C>G (p.Ser2181=)
c.6501C>G (p.Ser2167=)
8g.133017977C>TCA463013082TGc.6762C>T (p.Ser2254=)
c.168+111C>T
c.2128C>T
c.1161C>T (p.Ser387=)
c.3417C>T
c.6570C>T (p.Ser2190=)
c.6699C>T (p.Ser2233=)
c.6696C>T (p.Ser2232=)
c.6591C>T (p.Ser2197=)
c.6543C>T (p.Ser2181=)
c.6501C>T (p.Ser2167=)
8g.133017978T>ACA372233889TGc.6763T>A (p.Trp2255Arg)
c.168+112T>A
c.2129T>A
c.1162T>A (p.Trp388Arg)
c.3418T>A
c.6571T>A (p.Trp2191Arg)
c.6700T>A (p.Trp2234Arg)
c.6697T>A (p.Trp2233Arg)
c.6592T>A (p.Trp2198Arg)
c.6544T>A (p.Trp2182Arg)
c.6502T>A (p.Trp2168Arg)
8g.133017978T>CCA372233891TGc.6763T>C (p.Trp2255Arg)
c.168+112T>C
c.2129T>C
c.1162T>C (p.Trp388Arg)
c.3418T>C
c.6571T>C (p.Trp2191Arg)
c.6700T>C (p.Trp2234Arg)
c.6697T>C (p.Trp2233Arg)
c.6592T>C (p.Trp2198Arg)
c.6544T>C (p.Trp2182Arg)
c.6502T>C (p.Trp2168Arg)
8g.133017978T>GCA372233890TGc.6763T>G (p.Trp2255Gly)
c.168+112T>G
c.2129T>G
c.1162T>G (p.Trp388Gly)
c.3418T>G
c.6571T>G (p.Trp2191Gly)
c.6700T>G (p.Trp2234Gly)
c.6697T>G (p.Trp2233Gly)
c.6592T>G (p.Trp2198Gly)
c.6544T>G (p.Trp2182Gly)
c.6502T>G (p.Trp2168Gly)
8g.133017979G>ACA372233892TGc.6764G>A (p.Trp2255Ter)
c.168+113G>A
c.2130G>A
c.1163G>A (p.Trp388Ter)
c.3419G>A
c.6572G>A (p.Trp2191Ter)
c.6701G>A (p.Trp2234Ter)
c.6698G>A (p.Trp2233Ter)
c.6593G>A (p.Trp2198Ter)
c.6545G>A (p.Trp2182Ter)
c.6503G>A (p.Trp2168Ter)
8g.133017979G>CCA372233894TGc.6764G>C (p.Trp2255Ser)
c.168+113G>C
c.2130G>C
c.1163G>C (p.Trp388Ser)
c.3419G>C
c.6572G>C (p.Trp2191Ser)
c.6701G>C (p.Trp2234Ser)
c.6698G>C (p.Trp2233Ser)
c.6593G>C (p.Trp2198Ser)
c.6545G>C (p.Trp2182Ser)
c.6503G>C (p.Trp2168Ser)
8g.133017979G>TCA372233893TGc.6764G>T (p.Trp2255Leu)
c.168+113G>T
c.2130G>T
c.1163G>T (p.Trp388Leu)
c.3419G>T
c.6572G>T (p.Trp2191Leu)
c.6701G>T (p.Trp2234Leu)
c.6698G>T (p.Trp2233Leu)
c.6593G>T (p.Trp2198Leu)
c.6545G>T (p.Trp2182Leu)
c.6503G>T (p.Trp2168Leu)
8g.133017981delCA2739268974TGc.6766del (p.Asp2256MetfsTer?)
c.168+115del
c.2132del
c.1165del (p.Asp389MetfsTer?)
c.3421del
c.6574del (p.Asp2192MetfsTer?)
c.6703del (p.Asp2235MetfsTer?)
c.6700del (p.Asp2234MetfsTer?)
c.6595del (p.Asp2199MetfsTer?)
c.6547del (p.Asp2183MetfsTer?)
c.6505del (p.Asp2169MetfsTer?)
 ClinVar
8g.133017980G>ACA372233895TGc.6765G>A (p.Trp2255Ter)
c.168+114G>A
c.2131G>A
c.1164G>A (p.Trp388Ter)
c.3420G>A
c.6573G>A (p.Trp2191Ter)
c.6702G>A (p.Trp2234Ter)
c.6699G>A (p.Trp2233Ter)
c.6594G>A (p.Trp2198Ter)
c.6546G>A (p.Trp2182Ter)
c.6504G>A (p.Trp2168Ter)
8g.133017980G>CCA372233896TGc.6765G>C (p.Trp2255Cys)
c.168+114G>C
c.2131G>C
c.1164G>C (p.Trp388Cys)
c.3420G>C
c.6573G>C (p.Trp2191Cys)
c.6702G>C (p.Trp2234Cys)
c.6699G>C (p.Trp2233Cys)
c.6594G>C (p.Trp2198Cys)
c.6546G>C (p.Trp2182Cys)
c.6504G>C (p.Trp2168Cys)
8g.133017980G>TCA372233897TGc.6765G>T (p.Trp2255Cys)
c.168+114G>T
c.2131G>T
c.1164G>T (p.Trp388Cys)
c.3420G>T
c.6573G>T (p.Trp2191Cys)
c.6702G>T (p.Trp2234Cys)
c.6699G>T (p.Trp2233Cys)
c.6594G>T (p.Trp2198Cys)
c.6546G>T (p.Trp2182Cys)
c.6504G>T (p.Trp2168Cys)
8g.133017981G>ACA4885015TGc.6766G>A (p.Asp2256Asn)
c.168+115G>A
c.2132G>A
c.1165G>A (p.Asp389Asn)
c.3421G>A
c.6574G>A (p.Asp2192Asn)
c.6703G>A (p.Asp2235Asn)
c.6700G>A (p.Asp2234Asn)
c.6595G>A (p.Asp2199Asn)
c.6547G>A (p.Asp2183Asn)
c.6505G>A (p.Asp2169Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133017981G>CCA372233898TGc.6766G>C (p.Asp2256His)
c.168+115G>C
c.2132G>C
c.1165G>C (p.Asp389His)
c.3421G>C
c.6574G>C (p.Asp2192His)
c.6703G>C (p.Asp2235His)
c.6700G>C (p.Asp2234His)
c.6595G>C (p.Asp2199His)
c.6547G>C (p.Asp2183His)
c.6505G>C (p.Asp2169His)
8g.133017981G=CA1821046446TGc.6766G= (p.Asp2256=)
c.168+115G=
c.2132G=
c.1165G= (p.Asp389=)
c.3421G=
c.6574G= (p.Asp2192=)
c.6703G= (p.Asp2235=)
c.6700G= (p.Asp2234=)
c.6595G= (p.Asp2199=)
c.6547G= (p.Asp2183=)
c.6505G= (p.Asp2169=)
8g.133017981G>TCA372233899TGc.6766G>T (p.Asp2256Tyr)
c.168+115G>T
c.2132G>T
c.1165G>T (p.Asp389Tyr)
c.3421G>T
c.6574G>T (p.Asp2192Tyr)
c.6703G>T (p.Asp2235Tyr)
c.6700G>T (p.Asp2234Tyr)
c.6595G>T (p.Asp2199Tyr)
c.6547G>T (p.Asp2183Tyr)
c.6505G>T (p.Asp2169Tyr)
8g.133017982A>CCA372233900TGc.6767A>C (p.Asp2256Ala)
c.168+116A>C
c.2133A>C
c.1166A>C (p.Asp389Ala)
c.3422A>C
c.6575A>C (p.Asp2192Ala)
c.6704A>C (p.Asp2235Ala)
c.6701A>C (p.Asp2234Ala)
c.6596A>C (p.Asp2199Ala)
c.6548A>C (p.Asp2183Ala)
c.6506A>C (p.Asp2169Ala)
8g.133017982A>GCA372233901TGc.6767A>G (p.Asp2256Gly)
c.168+116A>G
c.2133A>G
c.1166A>G (p.Asp389Gly)
c.3422A>G
c.6575A>G (p.Asp2192Gly)
c.6704A>G (p.Asp2235Gly)
c.6701A>G (p.Asp2234Gly)
c.6596A>G (p.Asp2199Gly)
c.6548A>G (p.Asp2183Gly)
c.6506A>G (p.Asp2169Gly)
8g.133017982A>TCA372233902TGc.6767A>T (p.Asp2256Val)
c.168+116A>T
c.2133A>T
c.1166A>T (p.Asp389Val)
c.3422A>T
c.6575A>T (p.Asp2192Val)
c.6704A>T (p.Asp2235Val)
c.6701A>T (p.Asp2234Val)
c.6596A>T (p.Asp2199Val)
c.6548A>T (p.Asp2183Val)
c.6506A>T (p.Asp2169Val)
8g.133017983T>ACA372233903TGc.6768T>A (p.Asp2256Glu)
c.168+117T>A
c.2134T>A
c.1167T>A (p.Asp389Glu)
c.3423T>A
c.6576T>A (p.Asp2192Glu)
c.6705T>A (p.Asp2235Glu)
c.6702T>A (p.Asp2234Glu)
c.6597T>A (p.Asp2199Glu)
c.6549T>A (p.Asp2183Glu)
c.6507T>A (p.Asp2169Glu)
8g.133017983T>CCA463013091TGc.6768T>C (p.Asp2256=)
c.168+117T>C
c.2134T>C
c.1167T>C (p.Asp389=)
c.3423T>C
c.6576T>C (p.Asp2192=)
c.6705T>C (p.Asp2235=)
c.6702T>C (p.Asp2234=)
c.6597T>C (p.Asp2199=)
c.6549T>C (p.Asp2183=)
c.6507T>C (p.Asp2169=)
8g.133017983T>GCA372233904TGc.6768T>G (p.Asp2256Glu)
c.168+117T>G
c.2134T>G
c.1167T>G (p.Asp389Glu)
c.3423T>G
c.6576T>G (p.Asp2192Glu)
c.6705T>G (p.Asp2235Glu)
c.6702T>G (p.Asp2234Glu)
c.6597T>G (p.Asp2199Glu)
c.6549T>G (p.Asp2183Glu)
c.6507T>G (p.Asp2169Glu)
8g.133017984G>ACA4885016TGc.6769G>A (p.Ala2257Thr)
c.168+118G>A
c.2135G>A
c.1168G>A (p.Ala390Thr)
c.3424G>A
c.6577G>A (p.Ala2193Thr)
c.6706G>A (p.Ala2236Thr)
c.6703G>A (p.Ala2235Thr)
c.6598G>A (p.Ala2200Thr)
c.6550G>A (p.Ala2184Thr)
c.6508G>A (p.Ala2170Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133017984G>CCA372233906TGc.6769G>C (p.Ala2257Pro)
c.168+118G>C
c.2135G>C
c.1168G>C (p.Ala390Pro)
c.3424G>C
c.6577G>C (p.Ala2193Pro)
c.6706G>C (p.Ala2236Pro)
c.6703G>C (p.Ala2235Pro)
c.6598G>C (p.Ala2200Pro)
c.6550G>C (p.Ala2184Pro)
c.6508G>C (p.Ala2170Pro)
8g.133017984G=CA1821046448TGc.6769G= (p.Ala2257=)
c.168+118G=
c.2135G=
c.1168G= (p.Ala390=)
c.3424G=
c.6577G= (p.Ala2193=)
c.6706G= (p.Ala2236=)
c.6703G= (p.Ala2235=)
c.6598G= (p.Ala2200=)
c.6550G= (p.Ala2184=)
c.6508G= (p.Ala2170=)
8g.133017984G>TCA372233905TGc.6769G>T (p.Ala2257Ser)
c.168+118G>T
c.2135G>T
c.1168G>T (p.Ala390Ser)
c.3424G>T
c.6577G>T (p.Ala2193Ser)
c.6706G>T (p.Ala2236Ser)
c.6703G>T (p.Ala2235Ser)
c.6598G>T (p.Ala2200Ser)
c.6550G>T (p.Ala2184Ser)
c.6508G>T (p.Ala2170Ser)
8g.133017985C>ACA372233907TGc.6770C>A (p.Ala2257Asp)
c.168+119C>A
c.2136C>A
c.1169C>A (p.Ala390Asp)
c.3425C>A
c.6578C>A (p.Ala2193Asp)
c.6707C>A (p.Ala2236Asp)
c.6704C>A (p.Ala2235Asp)
c.6599C>A (p.Ala2200Asp)
c.6551C>A (p.Ala2184Asp)
c.6509C>A (p.Ala2170Asp)
 ClinVar gnomAD v4
8g.133017985C=CA1821046455TGc.6770C= (p.Ala2257=)
c.168+119C=
c.2136C=
c.1169C= (p.Ala390=)
c.3425C=
c.6578C= (p.Ala2193=)
c.6707C= (p.Ala2236=)
c.6704C= (p.Ala2235=)
c.6599C= (p.Ala2200=)
c.6551C= (p.Ala2184=)
c.6509C= (p.Ala2170=)
8g.133017985C>GCA372233908TGc.6770C>G (p.Ala2257Gly)
c.168+119C>G
c.2136C>G
c.1169C>G (p.Ala390Gly)
c.3425C>G
c.6578C>G (p.Ala2193Gly)
c.6707C>G (p.Ala2236Gly)
c.6704C>G (p.Ala2235Gly)
c.6599C>G (p.Ala2200Gly)
c.6551C>G (p.Ala2184Gly)
c.6509C>G (p.Ala2170Gly)
8g.133017985C>TCA372233909TGc.6770C>T (p.Ala2257Val)
c.168+119C>T
c.2136C>T
c.1169C>T (p.Ala390Val)
c.3425C>T
c.6578C>T (p.Ala2193Val)
c.6707C>T (p.Ala2236Val)
c.6704C>T (p.Ala2235Val)
c.6599C>T (p.Ala2200Val)
c.6551C>T (p.Ala2184Val)
c.6509C>T (p.Ala2170Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133017986C>ACA463013095TGc.6771C>A (p.Ala2257=)
c.168+120C>A
c.2137C>A
c.1170C>A (p.Ala390=)
c.3426C>A
c.6579C>A (p.Ala2193=)
c.6708C>A (p.Ala2236=)
c.6705C>A (p.Ala2235=)
c.6600C>A (p.Ala2200=)
c.6552C>A (p.Ala2184=)
c.6510C>A (p.Ala2170=)
8g.133017986C>GCA463013097TGc.6771C>G (p.Ala2257=)
c.168+120C>G
c.2137C>G
c.1170C>G (p.Ala390=)
c.3426C>G
c.6579C>G (p.Ala2193=)
c.6708C>G (p.Ala2236=)
c.6705C>G (p.Ala2235=)
c.6600C>G (p.Ala2200=)
c.6552C>G (p.Ala2184=)
c.6510C>G (p.Ala2170=)
8g.133017986C>TCA463013098TGc.6771C>T (p.Ala2257=)
c.168+120C>T
c.2137C>T
c.1170C>T (p.Ala390=)
c.3426C>T
c.6579C>T (p.Ala2193=)
c.6708C>T (p.Ala2236=)
c.6705C>T (p.Ala2235=)
c.6600C>T (p.Ala2200=)
c.6552C>T (p.Ala2184=)
c.6510C>T (p.Ala2170=)
8g.133017987A>CCA372233910TGc.6772A>C (p.Ser2258Arg)
c.168+121A>C
c.2138A>C
c.1171A>C (p.Ser391Arg)
c.3427A>C
c.6580A>C (p.Ser2194Arg)
c.6709A>C (p.Ser2237Arg)
c.6706A>C (p.Ser2236Arg)
c.6601A>C (p.Ser2201Arg)
c.6553A>C (p.Ser2185Arg)
c.6511A>C (p.Ser2171Arg)
8g.133017987A>GCA372233911TGc.6772A>G (p.Ser2258Gly)
c.168+121A>G
c.2138A>G
c.1171A>G (p.Ser391Gly)
c.3427A>G
c.6580A>G (p.Ser2194Gly)
c.6709A>G (p.Ser2237Gly)
c.6706A>G (p.Ser2236Gly)
c.6601A>G (p.Ser2201Gly)
c.6553A>G (p.Ser2185Gly)
c.6511A>G (p.Ser2171Gly)
8g.133017987A>TCA372233912TGc.6772A>T (p.Ser2258Cys)
c.168+121A>T
c.2138A>T
c.1171A>T (p.Ser391Cys)
c.3427A>T
c.6580A>T (p.Ser2194Cys)
c.6709A>T (p.Ser2237Cys)
c.6706A>T (p.Ser2236Cys)
c.6601A>T (p.Ser2201Cys)
c.6553A>T (p.Ser2185Cys)
c.6511A>T (p.Ser2171Cys)
8g.133017988G>ACA4885017TGc.6773G>A (p.Ser2258Asn)
c.168+122G>A
c.2139G>A
c.1172G>A (p.Ser391Asn)
c.3428G>A
c.6581G>A (p.Ser2194Asn)
c.6710G>A (p.Ser2237Asn)
c.6707G>A (p.Ser2236Asn)
c.6602G>A (p.Ser2201Asn)
c.6554G>A (p.Ser2185Asn)
c.6512G>A (p.Ser2171Asn)
 dbSNP ExAC
8g.133017988G>CCA372233913TGc.6773G>C (p.Ser2258Thr)
c.168+122G>C
c.2139G>C
c.1172G>C (p.Ser391Thr)
c.3428G>C
c.6581G>C (p.Ser2194Thr)
c.6710G>C (p.Ser2237Thr)
c.6707G>C (p.Ser2236Thr)
c.6602G>C (p.Ser2201Thr)
c.6554G>C (p.Ser2185Thr)
c.6512G>C (p.Ser2171Thr)
8g.133017988G=CA1821046461TGc.6773G= (p.Ser2258=)
c.168+122G=
c.2139G=
c.1172G= (p.Ser391=)
c.3428G=
c.6581G= (p.Ser2194=)
c.6710G= (p.Ser2237=)
c.6707G= (p.Ser2236=)
c.6602G= (p.Ser2201=)
c.6554G= (p.Ser2185=)
c.6512G= (p.Ser2171=)
8g.133017988G>TCA372233914TGc.6773G>T (p.Ser2258Ile)
c.168+122G>T
c.2139G>T
c.1172G>T (p.Ser391Ile)
c.3428G>T
c.6581G>T (p.Ser2194Ile)
c.6710G>T (p.Ser2237Ile)
c.6707G>T (p.Ser2236Ile)
c.6602G>T (p.Ser2201Ile)
c.6554G>T (p.Ser2185Ile)
c.6512G>T (p.Ser2171Ile)
 COSMIC
8g.133017989delCA2688656433TGc.6774del (p.Ser2258ArgfsTer?)
c.168+123del
c.2140del
c.1173del (p.Ser391ArgfsTer?)
c.3429del
c.6582del (p.Ser2194ArgfsTer?)
c.6711del (p.Ser2237ArgfsTer?)
c.6708del (p.Ser2236ArgfsTer?)
c.6603del (p.Ser2201ArgfsTer?)
c.6555del (p.Ser2185ArgfsTer?)
c.6513del (p.Ser2171ArgfsTer?)
 gnomAD v4
8g.133017989C>ACA372233915TGc.6774C>A (p.Ser2258Arg)
c.168+123C>A
c.2140C>A
c.1173C>A (p.Ser391Arg)
c.3429C>A
c.6582C>A (p.Ser2194Arg)
c.6711C>A (p.Ser2237Arg)
c.6708C>A (p.Ser2236Arg)
c.6603C>A (p.Ser2201Arg)
c.6555C>A (p.Ser2185Arg)
c.6513C>A (p.Ser2171Arg)
8g.133017989C=CA1821046465TGc.6774C= (p.Ser2258=)
c.168+123C=
c.2140C=
c.1173C= (p.Ser391=)
c.3429C=
c.6582C= (p.Ser2194=)
c.6711C= (p.Ser2237=)
c.6708C= (p.Ser2236=)
c.6603C= (p.Ser2201=)
c.6555C= (p.Ser2185=)
c.6513C= (p.Ser2171=)
8g.133017989C>GCA372233916TGc.6774C>G (p.Ser2258Arg)
c.168+123C>G
c.2140C>G
c.1173C>G (p.Ser391Arg)
c.3429C>G
c.6582C>G (p.Ser2194Arg)
c.6711C>G (p.Ser2237Arg)
c.6708C>G (p.Ser2236Arg)
c.6603C>G (p.Ser2201Arg)
c.6555C>G (p.Ser2185Arg)
c.6513C>G (p.Ser2171Arg)
 dbSNP
8g.133017989C>TCA463013100TGc.6774C>T (p.Ser2258=)
c.168+123C>T
c.2140C>T
c.1173C>T (p.Ser391=)
c.3429C>T
c.6582C>T (p.Ser2194=)
c.6711C>T (p.Ser2237=)
c.6708C>T (p.Ser2236=)
c.6603C>T (p.Ser2201=)
c.6555C>T (p.Ser2185=)
c.6513C>T (p.Ser2171=)
8g.133017990A>CCA372233922TGc.6775A>C (p.Lys2259Gln)
c.168+124A>C
c.2141A>C
c.1174A>C (p.Lys392Gln)
c.3430A>C
c.6583A>C (p.Lys2195Gln)
c.6712A>C (p.Lys2238Gln)
c.6709A>C (p.Lys2237Gln)
c.6604A>C (p.Lys2202Gln)
c.6556A>C (p.Lys2186Gln)
c.6514A>C (p.Lys2172Gln)
8g.133017990A>GCA372233920TGc.6775A>G (p.Lys2259Glu)
c.168+124A>G
c.2141A>G
c.1174A>G (p.Lys392Glu)
c.3430A>G
c.6583A>G (p.Lys2195Glu)
c.6712A>G (p.Lys2238Glu)
c.6709A>G (p.Lys2237Glu)
c.6604A>G (p.Lys2202Glu)
c.6556A>G (p.Lys2186Glu)
c.6514A>G (p.Lys2172Glu)
 gnomAD v4
8g.133017990A>TCA372233918TGc.6775A>T (p.Lys2259Ter)
c.168+124A>T
c.2141A>T
c.1174A>T (p.Lys392Ter)
c.3430A>T
c.6583A>T (p.Lys2195Ter)
c.6712A>T (p.Lys2238Ter)
c.6709A>T (p.Lys2237Ter)
c.6604A>T (p.Lys2202Ter)
c.6556A>T (p.Lys2186Ter)
c.6514A>T (p.Lys2172Ter)
8g.133017991A>CCA372233924TGc.6776A>C (p.Lys2259Thr)
c.168+125A>C
c.2142A>C
c.1175A>C (p.Lys392Thr)
c.3431A>C
c.6584A>C (p.Lys2195Thr)
c.6713A>C (p.Lys2238Thr)
c.6710A>C (p.Lys2237Thr)
c.6605A>C (p.Lys2202Thr)
c.6557A>C (p.Lys2186Thr)
c.6515A>C (p.Lys2172Thr)
8g.133017991A>GCA372233926TGc.6776A>G (p.Lys2259Arg)
c.168+125A>G
c.2142A>G
c.1175A>G (p.Lys392Arg)
c.3431A>G
c.6584A>G (p.Lys2195Arg)
c.6713A>G (p.Lys2238Arg)
c.6710A>G (p.Lys2237Arg)
c.6605A>G (p.Lys2202Arg)
c.6557A>G (p.Lys2186Arg)
c.6515A>G (p.Lys2172Arg)
8g.133017991A>TCA372233928TGc.6776A>T (p.Lys2259Met)
c.168+125A>T
c.2142A>T
c.1175A>T (p.Lys392Met)
c.3431A>T
c.6584A>T (p.Lys2195Met)
c.6713A>T (p.Lys2238Met)
c.6710A>T (p.Lys2237Met)
c.6605A>T (p.Lys2202Met)
c.6557A>T (p.Lys2186Met)
c.6515A>T (p.Lys2172Met)
8g.133017992G>ACA463013101TGc.6777G>A (p.Lys2259=)
c.168+126G>A
c.2143G>A
c.1176G>A (p.Lys392=)
c.3432G>A
c.6585G>A (p.Lys2195=)
c.6714G>A (p.Lys2238=)
c.6711G>A (p.Lys2237=)
c.6606G>A (p.Lys2202=)
c.6558G>A (p.Lys2186=)
c.6516G>A (p.Lys2172=)
8g.133017992G>CCA372233929TGc.6777G>C (p.Lys2259Asn)
c.168+126G>C
c.2143G>C
c.1176G>C (p.Lys392Asn)
c.3432G>C
c.6585G>C (p.Lys2195Asn)
c.6714G>C (p.Lys2238Asn)
c.6711G>C (p.Lys2237Asn)
c.6606G>C (p.Lys2202Asn)
c.6558G>C (p.Lys2186Asn)
c.6516G>C (p.Lys2172Asn)
8g.133017992G=CA1821046467TGc.6777G= (p.Lys2259=)
c.168+126G=
c.2143G=
c.1176G= (p.Lys392=)
c.3432G=
c.6585G= (p.Lys2195=)
c.6714G= (p.Lys2238=)
c.6711G= (p.Lys2237=)
c.6606G= (p.Lys2202=)
c.6558G= (p.Lys2186=)
c.6516G= (p.Lys2172=)
8g.133017992G>TCA372233931TGc.6777G>T (p.Lys2259Asn)
c.168+126G>T
c.2143G>T
c.1176G>T (p.Lys392Asn)
c.3432G>T
c.6585G>T (p.Lys2195Asn)
c.6714G>T (p.Lys2238Asn)
c.6711G>T (p.Lys2237Asn)
c.6606G>T (p.Lys2202Asn)
c.6558G>T (p.Lys2186Asn)
c.6516G>T (p.Lys2172Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.133017993C>ACA372233934TGc.6778C>A (p.Pro2260Thr)
c.168+127C>A
c.2144C>A
c.1177C>A (p.Pro393Thr)
c.3433C>A
c.6586C>A (p.Pro2196Thr)
c.6715C>A (p.Pro2239Thr)
c.6712C>A (p.Pro2238Thr)
c.6607C>A (p.Pro2203Thr)
c.6559C>A (p.Pro2187Thr)
c.6517C>A (p.Pro2173Thr)
 gnomAD v4
8g.133017993C=CA1821046472TGc.6778C= (p.Pro2260=)
c.168+127C=
c.2144C=
c.1177C= (p.Pro393=)
c.3433C=
c.6586C= (p.Pro2196=)
c.6715C= (p.Pro2239=)
c.6712C= (p.Pro2238=)
c.6607C= (p.Pro2203=)
c.6559C= (p.Pro2187=)
c.6517C= (p.Pro2173=)
8g.133017993C>GCA372233936TGc.6778C>G (p.Pro2260Ala)
c.168+127C>G
c.2144C>G
c.1177C>G (p.Pro393Ala)
c.3433C>G
c.6586C>G (p.Pro2196Ala)
c.6715C>G (p.Pro2239Ala)
c.6712C>G (p.Pro2238Ala)
c.6607C>G (p.Pro2203Ala)
c.6559C>G (p.Pro2187Ala)
c.6517C>G (p.Pro2173Ala)
8g.133017993C>TCA4885018TGc.6778C>T (p.Pro2260Ser)
c.168+127C>T
c.2144C>T
c.1177C>T (p.Pro393Ser)
c.3433C>T
c.6586C>T (p.Pro2196Ser)
c.6715C>T (p.Pro2239Ser)
c.6712C>T (p.Pro2238Ser)
c.6607C>T (p.Pro2203Ser)
c.6559C>T (p.Pro2187Ser)
c.6517C>T (p.Pro2173Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133017994C>ACA372233938TGc.6779C>A (p.Pro2260Gln)
c.168+128C>A
c.2145C>A
c.1178C>A (p.Pro393Gln)
c.3434C>A
c.6587C>A (p.Pro2196Gln)
c.6716C>A (p.Pro2239Gln)
c.6713C>A (p.Pro2238Gln)
c.6608C>A (p.Pro2203Gln)
c.6560C>A (p.Pro2187Gln)
c.6518C>A (p.Pro2173Gln)
8g.133017994C=CA1821046474TGc.6779C= (p.Pro2260=)
c.168+128C=
c.2145C=
c.1178C= (p.Pro393=)
c.3434C=
c.6587C= (p.Pro2196=)
c.6716C= (p.Pro2239=)
c.6713C= (p.Pro2238=)
c.6608C= (p.Pro2203=)
c.6560C= (p.Pro2187=)
c.6518C= (p.Pro2173=)
8g.133017994C>GCA372233941TGc.6779C>G (p.Pro2260Arg)
c.168+128C>G
c.2145C>G
c.1178C>G (p.Pro393Arg)
c.3434C>G
c.6587C>G (p.Pro2196Arg)
c.6716C>G (p.Pro2239Arg)
c.6713C>G (p.Pro2238Arg)
c.6608C>G (p.Pro2203Arg)
c.6560C>G (p.Pro2187Arg)
c.6518C>G (p.Pro2173Arg)
8g.133017994C>TCA372233943TGc.6779C>T (p.Pro2260Leu)
c.168+128C>T
c.2145C>T
c.1178C>T (p.Pro393Leu)
c.3434C>T
c.6587C>T (p.Pro2196Leu)
c.6716C>T (p.Pro2239Leu)
c.6713C>T (p.Pro2238Leu)
c.6608C>T (p.Pro2203Leu)
c.6560C>T (p.Pro2187Leu)
c.6518C>T (p.Pro2173Leu)
 dbSNP gnomAD v4 COSMIC
8g.133017995A>CCA463013102TGc.6780A>C (p.Pro2260=)
c.168+129A>C
c.2146A>C
c.1179A>C (p.Pro393=)
c.3435A>C
c.6588A>C (p.Pro2196=)
c.6717A>C (p.Pro2239=)
c.6714A>C (p.Pro2238=)
c.6609A>C (p.Pro2203=)
c.6561A>C (p.Pro2187=)
c.6519A>C (p.Pro2173=)
 gnomAD v4
8g.133017995A>GCA463013103TGc.6780A>G (p.Pro2260=)
c.168+129A>G
c.2146A>G
c.1179A>G (p.Pro393=)
c.3435A>G
c.6588A>G (p.Pro2196=)
c.6717A>G (p.Pro2239=)
c.6714A>G (p.Pro2238=)
c.6609A>G (p.Pro2203=)
c.6561A>G (p.Pro2187=)
c.6519A>G (p.Pro2173=)
8g.133017995A>TCA463013104TGc.6780A>T (p.Pro2260=)
c.168+129A>T
c.2146A>T
c.1179A>T (p.Pro393=)
c.3435A>T
c.6588A>T (p.Pro2196=)
c.6717A>T (p.Pro2239=)
c.6714A>T (p.Pro2238=)
c.6609A>T (p.Pro2203=)
c.6561A>T (p.Pro2187=)
c.6519A>T (p.Pro2173=)
8g.133017995_133018000delCA2579254899TGc.6780_6782+3del
c.168+129_168+134del
c.2146_2148+3del
c.1179_1181+3del
c.3435_3437+3del
c.6588_6590+3del
c.6717_6719+3del
c.6714_6716+3del
c.6609_6611+3del
c.6561_6563+3del
c.6519_6521+3del
 gnomAD v4
8g.133017996A>CCA463013105TGc.6781A>C (p.Arg2261=)
c.168+130A>C
c.2147A>C
c.1180A>C (p.Arg394=)
c.3436A>C
c.6589A>C (p.Arg2197=)
c.6718A>C (p.Arg2240=)
c.6715A>C (p.Arg2239=)
c.6610A>C (p.Arg2204=)
c.6562A>C (p.Arg2188=)
c.6520A>C (p.Arg2174=)
8g.133017996A>GCA372233945TGc.6781A>G (p.Arg2261Gly)
c.168+130A>G
c.2147A>G
c.1180A>G (p.Arg394Gly)
c.3436A>G
c.6589A>G (p.Arg2197Gly)
c.6718A>G (p.Arg2240Gly)
c.6715A>G (p.Arg2239Gly)
c.6610A>G (p.Arg2204Gly)
c.6562A>G (p.Arg2188Gly)
c.6520A>G (p.Arg2174Gly)
 gnomAD v4
8g.133017996A>TCA372233947TGc.6781A>T (p.Arg2261Trp)
c.168+130A>T
c.2147A>T
c.1180A>T (p.Arg394Trp)
c.3436A>T
c.6589A>T (p.Arg2197Trp)
c.6718A>T (p.Arg2240Trp)
c.6715A>T (p.Arg2239Trp)
c.6610A>T (p.Arg2204Trp)
c.6562A>T (p.Arg2188Trp)
c.6520A>T (p.Arg2174Trp)
8g.133017997G>ACA372233948TGc.6782G>A (p.Arg2261Lys)
c.168+131G>A
c.2148G>A
c.1181G>A (p.Arg394Lys)
c.3437G>A
c.6590G>A (p.Arg2197Lys)
c.6719G>A (p.Arg2240Lys)
c.6716G>A (p.Arg2239Lys)
c.6611G>A (p.Arg2204Lys)
c.6563G>A (p.Arg2188Lys)
c.6521G>A (p.Arg2174Lys)
8g.133017997G>CCA372233953TGc.6782G>C (p.Arg2261Thr)
c.168+131G>C
c.2148G>C
c.1181G>C (p.Arg394Thr)
c.3437G>C
c.6590G>C (p.Arg2197Thr)
c.6719G>C (p.Arg2240Thr)
c.6716G>C (p.Arg2239Thr)
c.6611G>C (p.Arg2204Thr)
c.6563G>C (p.Arg2188Thr)
c.6521G>C (p.Arg2174Thr)
 dbSNP gnomAD v4
8g.133017997G=CA1821046476TGc.6782G= (p.Arg2261=)
c.168+131G=
c.2148G=
c.1181G= (p.Arg394=)
c.3437G=
c.6590G= (p.Arg2197=)
c.6719G= (p.Arg2240=)
c.6716G= (p.Arg2239=)
c.6611G= (p.Arg2204=)
c.6563G= (p.Arg2188=)
c.6521G= (p.Arg2174=)
8g.133017997G>TCA372233950TGc.6782G>T (p.Arg2261Met)
c.168+131G>T
c.2148G>T
c.1181G>T (p.Arg394Met)
c.3437G>T
c.6590G>T (p.Arg2197Met)
c.6719G>T (p.Arg2240Met)
c.6716G>T (p.Arg2239Met)
c.6611G>T (p.Arg2204Met)
c.6563G>T (p.Arg2188Met)
c.6521G>T (p.Arg2174Met)
 gnomAD v4
8g.133017998G>ACA372233955TGc.6782+1G>A (n.6782+1G>A)
c.168+132G>A
c.2148+1G>A
c.1181+1G>A (n.1181+1G>A)
c.3437+1G>A
c.6590+1G>A (n.6590+1G>A)
c.6719+1G>A (n.6719+1G>A)
c.6716+1G>A (n.6716+1G>A)
c.6611+1G>A (n.6611+1G>A)
c.6563+1G>A (n.6563+1G>A)
c.6521+1G>A (n.6521+1G>A)
 gnomAD v4
8g.133017998G>CCA372233958TGc.6782+1G>C (n.6782+1G>C)
c.168+132G>C
c.2148+1G>C
c.1181+1G>C (n.1181+1G>C)
c.3437+1G>C
c.6590+1G>C (n.6590+1G>C)
c.6719+1G>C (n.6719+1G>C)
c.6716+1G>C (n.6716+1G>C)
c.6611+1G>C (n.6611+1G>C)
c.6563+1G>C (n.6563+1G>C)
c.6521+1G>C (n.6521+1G>C)
8g.133017998G=CA1821046479TGc.6782+1G= (n.6782+1G=)
c.168+132G=
c.2148+1G=
c.1181+1G= (n.1181+1G=)
c.3437+1G=
c.6590+1G= (n.6590+1G=)
c.6719+1G= (n.6719+1G=)
c.6716+1G= (n.6716+1G=)
c.6611+1G= (n.6611+1G=)
c.6563+1G= (n.6563+1G=)
c.6521+1G= (n.6521+1G=)
8g.133017998G>TCA372233960TGc.6782+1G>T (n.6782+1G>T)
c.168+132G>T
c.2148+1G>T
c.1181+1G>T (n.1181+1G>T)
c.3437+1G>T
c.6590+1G>T (n.6590+1G>T)
c.6719+1G>T (n.6719+1G>T)
c.6716+1G>T (n.6716+1G>T)
c.6611+1G>T (n.6611+1G>T)
c.6563+1G>T (n.6563+1G>T)
c.6521+1G>T (n.6521+1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133017998_133017999insGCCAGCCA2688656434TGc.6782+1_6782+2insGCCAGC (n.6782+1_6782+2insGCCAGC)
c.168+132_168+133insGCCAGC
c.2148+1_2148+2insGCCAGC
c.1181+1_1181+2insGCCAGC (n.1181+1_1181+2insGCCAGC)
c.3437+1_3437+2insGCCAGC
c.6590+1_6590+2insGCCAGC (n.6590+1_6590+2insGCCAGC)
c.6719+1_6719+2insGCCAGC (n.6719+1_6719+2insGCCAGC)
c.6716+1_6716+2insGCCAGC (n.6716+1_6716+2insGCCAGC)
c.6611+1_6611+2insGCCAGC (n.6611+1_6611+2insGCCAGC)
c.6563+1_6563+2insGCCAGC (n.6563+1_6563+2insGCCAGC)
c.6521+1_6521+2insGCCAGC (n.6521+1_6521+2insGCCAGC)
 gnomAD v4
8g.133017999T>ACA372233964TGc.6782+2T>A (n.6782+2T>A)
c.168+133T>A
c.2148+2T>A
c.1181+2T>A (n.1181+2T>A)
c.3437+2T>A
c.6590+2T>A (n.6590+2T>A)
c.6719+2T>A (n.6719+2T>A)
c.6716+2T>A (n.6716+2T>A)
c.6611+2T>A (n.6611+2T>A)
c.6563+2T>A (n.6563+2T>A)
c.6521+2T>A (n.6521+2T>A)
8g.133017999T>CCA372233966TGc.6782+2T>C (n.6782+2T>C)
c.168+133T>C
c.2148+2T>C
c.1181+2T>C (n.1181+2T>C)
c.3437+2T>C
c.6590+2T>C (n.6590+2T>C)
c.6719+2T>C (n.6719+2T>C)
c.6716+2T>C (n.6716+2T>C)
c.6611+2T>C (n.6611+2T>C)
c.6563+2T>C (n.6563+2T>C)
c.6521+2T>C (n.6521+2T>C)
8g.133017999T>GCA372233968TGc.6782+2T>G (n.6782+2T>G)
c.168+133T>G
c.2148+2T>G
c.1181+2T>G (n.1181+2T>G)
c.3437+2T>G
c.6590+2T>G (n.6590+2T>G)
c.6719+2T>G (n.6719+2T>G)
c.6716+2T>G (n.6716+2T>G)
c.6611+2T>G (n.6611+2T>G)
c.6563+2T>G (n.6563+2T>G)
c.6521+2T>G (n.6521+2T>G)
 dbSNP
8g.133017999T=CA1821046481TGc.6782+2T= (n.6782+2T=)
c.168+133T=
c.2148+2T=
c.1181+2T= (n.1181+2T=)
c.3437+2T=
c.6590+2T= (n.6590+2T=)
c.6719+2T= (n.6719+2T=)
c.6716+2T= (n.6716+2T=)
c.6611+2T= (n.6611+2T=)
c.6563+2T= (n.6563+2T=)
c.6521+2T= (n.6521+2T=)
8g.133017999_133018001delCA2688656435TGc.6782+2_6782+4del (n.6782+2_6782+4del)
c.168+133_168+135del
c.2148+2_2148+4del
c.1181+2_1181+4del (n.1181+2_1181+4del)
c.3437+2_3437+4del
c.6590+2_6590+4del (n.6590+2_6590+4del)
c.6719+2_6719+4del (n.6719+2_6719+4del)
c.6716+2_6716+4del (n.6716+2_6716+4del)
c.6611+2_6611+4del (n.6611+2_6611+4del)
c.6563+2_6563+4del (n.6563+2_6563+4del)
c.6521+2_6521+4del (n.6521+2_6521+4del)
 gnomAD v4
8g.133017999_133018000insGCTGGCCA2688656436TGc.6782+2_6782+3insGCTGGC (n.6782+2_6782+3insGCTGGC)
c.168+133_168+134insGCTGGC
c.2148+2_2148+3insGCTGGC
c.1181+2_1181+3insGCTGGC (n.1181+2_1181+3insGCTGGC)
c.3437+2_3437+3insGCTGGC
c.6590+2_6590+3insGCTGGC (n.6590+2_6590+3insGCTGGC)
c.6719+2_6719+3insGCTGGC (n.6719+2_6719+3insGCTGGC)
c.6716+2_6716+3insGCTGGC (n.6716+2_6716+3insGCTGGC)
c.6611+2_6611+3insGCTGGC (n.6611+2_6611+3insGCTGGC)
c.6563+2_6563+3insGCTGGC (n.6563+2_6563+3insGCTGGC)
c.6521+2_6521+3insGCTGGC (n.6521+2_6521+3insGCTGGC)
 gnomAD v4
8g.133018000A=CA1821046484TGc.6782+3A= (n.6782+3A=)
c.168+134A=
c.2148+3A=
c.1181+3A= (n.1181+3A=)
c.3437+3A=
c.6590+3A= (n.6590+3A=)
c.6719+3A= (n.6719+3A=)
c.6716+3A= (n.6716+3A=)
c.6611+3A= (n.6611+3A=)
c.6563+3A= (n.6563+3A=)
c.6521+3A= (n.6521+3A=)
8g.133018000A>GCA186291168TGc.6782+3A>G (n.6782+3A>G)
c.168+134A>G
c.2148+3A>G
c.1181+3A>G (n.1181+3A>G)
c.3437+3A>G
c.6590+3A>G (n.6590+3A>G)
c.6719+3A>G (n.6719+3A>G)
c.6716+3A>G (n.6716+3A>G)
c.6611+3A>G (n.6611+3A>G)
c.6563+3A>G (n.6563+3A>G)
c.6521+3A>G (n.6521+3A>G)
 dbSNP gnomAD v3 gnomAD v4
8g.133018000_133018001insGCCAGGCACCAGAACATCCACGTCTCCCA2688656437TGc.6782+3_6782+4insGCCAGGCACCAGAACATCCACGTCTCC (n.6782+3_6782+4insGCCAGGCACCAGAACATCCACGTCTCC)
c.168+134_168+135insGCCAGGCACCAGAACATCCACGTCTCC
c.2148+3_2148+4insGCCAGGCACCAGAACATCCACGTCTCC
c.1181+3_1181+4insGCCAGGCACCAGAACATCCACGTCTCC (n.1181+3_1181+4insGCCAGGCACCAGAACATCCACGTCTCC)
c.3437+3_3437+4insGCCAGGCACCAGAACATCCACGTCTCC
c.6590+3_6590+4insGCCAGGCACCAGAACATCCACGTCTCC (n.6590+3_6590+4insGCCAGGCACCAGAACATCCACGTCTCC)
c.6719+3_6719+4insGCCAGGCACCAGAACATCCACGTCTCC (n.6719+3_6719+4insGCCAGGCACCAGAACATCCACGTCTCC)
c.6716+3_6716+4insGCCAGGCACCAGAACATCCACGTCTCC (n.6716+3_6716+4insGCCAGGCACCAGAACATCCACGTCTCC)
c.6611+3_6611+4insGCCAGGCACCAGAACATCCACGTCTCC (n.6611+3_6611+4insGCCAGGCACCAGAACATCCACGTCTCC)
c.6563+3_6563+4insGCCAGGCACCAGAACATCCACGTCTCC (n.6563+3_6563+4insGCCAGGCACCAGAACATCCACGTCTCC)
c.6521+3_6521+4insGCCAGGCACCAGAACATCCACGTCTCC (n.6521+3_6521+4insGCCAGGCACCAGAACATCCACGTCTCC)
 gnomAD v4
8g.133018001T>ACA2688656438TGc.6782+4T>A (n.6782+4T>A)
c.168+135T>A
c.2148+4T>A
c.1181+4T>A (n.1181+4T>A)
c.3437+4T>A
c.6590+4T>A (n.6590+4T>A)
c.6719+4T>A (n.6719+4T>A)
c.6716+4T>A (n.6716+4T>A)
c.6611+4T>A (n.6611+4T>A)
c.6563+4T>A (n.6563+4T>A)
c.6521+4T>A (n.6521+4T>A)
 gnomAD v4
8g.133018002G>ACA1119405398TGc.6782+5G>A (n.6782+5G>A)
c.168+136G>A
c.2148+5G>A
c.1181+5G>A (n.1181+5G>A)
c.3437+5G>A
c.6590+5G>A (n.6590+5G>A)
c.6719+5G>A (n.6719+5G>A)
c.6716+5G>A (n.6716+5G>A)
c.6611+5G>A (n.6611+5G>A)
c.6563+5G>A (n.6563+5G>A)
c.6521+5G>A (n.6521+5G>A)
 dbSNP gnomAD v3 gnomAD v4
8g.133018002G=CA1821046488TGc.6782+5G= (n.6782+5G=)
c.168+136G=
c.2148+5G=
c.1181+5G= (n.1181+5G=)
c.3437+5G=
c.6590+5G= (n.6590+5G=)
c.6719+5G= (n.6719+5G=)
c.6716+5G= (n.6716+5G=)
c.6611+5G= (n.6611+5G=)
c.6563+5G= (n.6563+5G=)
c.6521+5G= (n.6521+5G=)
8g.133018003G>TCA2579254900TGc.6782+6G>T (n.6782+6G>T)
c.168+137G>T
c.2148+6G>T
c.1181+6G>T (n.1181+6G>T)
c.3437+6G>T
c.6590+6G>T (n.6590+6G>T)
c.6719+6G>T (n.6719+6G>T)
c.6716+6G>T (n.6716+6G>T)
c.6611+6G>T (n.6611+6G>T)
c.6563+6G>T (n.6563+6G>T)
c.6521+6G>T (n.6521+6G>T)
8g.133018004G>ACA1821046491TGc.6782+7G>A (n.6782+7G>A)
c.168+138G>A
c.2148+7G>A
c.1181+7G>A (n.1181+7G>A)
c.3437+7G>A
c.6590+7G>A (n.6590+7G>A)
c.6719+7G>A (n.6719+7G>A)
c.6716+7G>A (n.6716+7G>A)
c.6611+7G>A (n.6611+7G>A)
c.6563+7G>A (n.6563+7G>A)
c.6521+7G>A (n.6521+7G>A)
 dbSNP
8g.133018004G=CA1821046490TGc.6782+7G= (n.6782+7G=)
c.168+138G=
c.2148+7G=
c.1181+7G= (n.1181+7G=)
c.3437+7G=
c.6590+7G= (n.6590+7G=)
c.6719+7G= (n.6719+7G=)
c.6716+7G= (n.6716+7G=)
c.6611+7G= (n.6611+7G=)
c.6563+7G= (n.6563+7G=)
c.6521+7G= (n.6521+7G=)
8g.133018005T>ACA2579254901TGc.6782+8T>A (n.6782+8T>A)
c.168+139T>A
c.2148+8T>A
c.1181+8T>A (n.1181+8T>A)
c.3437+8T>A
c.6590+8T>A (n.6590+8T>A)
c.6719+8T>A (n.6719+8T>A)
c.6716+8T>A (n.6716+8T>A)
c.6611+8T>A (n.6611+8T>A)
c.6563+8T>A (n.6563+8T>A)
c.6521+8T>A (n.6521+8T>A)
 gnomAD v4
8g.133018005T>GCA585277771TGc.6782+8T>G (n.6782+8T>G)
c.168+139T>G
c.2148+8T>G
c.1181+8T>G (n.1181+8T>G)
c.3437+8T>G
c.6590+8T>G (n.6590+8T>G)
c.6719+8T>G (n.6719+8T>G)
c.6716+8T>G (n.6716+8T>G)
c.6611+8T>G (n.6611+8T>G)
c.6563+8T>G (n.6563+8T>G)
c.6521+8T>G (n.6521+8T>G)
 dbSNP gnomAD v2 gnomAD v4
8g.133018005T=CA1821046492TGc.6782+8T= (n.6782+8T=)
c.168+139T=
c.2148+8T=
c.1181+8T= (n.1181+8T=)
c.3437+8T=
c.6590+8T= (n.6590+8T=)
c.6719+8T= (n.6719+8T=)
c.6716+8T= (n.6716+8T=)
c.6611+8T= (n.6611+8T=)
c.6563+8T= (n.6563+8T=)
c.6521+8T= (n.6521+8T=)
8g.133018006T>GCA2688656439TGc.6782+9T>G (n.6782+9T>G)
c.168+140T>G
c.2148+9T>G
c.1181+9T>G (n.1181+9T>G)
c.3437+9T>G
c.6590+9T>G (n.6590+9T>G)
c.6719+9T>G (n.6719+9T>G)
c.6716+9T>G (n.6716+9T>G)
c.6611+9T>G (n.6611+9T>G)
c.6563+9T>G (n.6563+9T>G)
c.6521+9T>G (n.6521+9T>G)
 gnomAD v4
8g.133018007G>CCA645543253TGc.6782+10G>C (n.6782+10G>C)
c.168+141G>C
c.2148+10G>C
c.1181+10G>C (n.1181+10G>C)
c.3437+10G>C
c.6590+10G>C (n.6590+10G>C)
c.6719+10G>C (n.6719+10G>C)
c.6716+10G>C (n.6716+10G>C)
c.6611+10G>C (n.6611+10G>C)
c.6563+10G>C (n.6563+10G>C)
c.6521+10G>C (n.6521+10G>C)
 COSMIC
8g.133018008A=CA1821046494TGc.6782+11A= (n.6782+11A=)
c.168+142A=
c.2148+11A=
c.1181+11A= (n.1181+11A=)
c.3437+11A=
c.6590+11A= (n.6590+11A=)
c.6719+11A= (n.6719+11A=)
c.6716+11A= (n.6716+11A=)
c.6611+11A= (n.6611+11A=)
c.6563+11A= (n.6563+11A=)
c.6521+11A= (n.6521+11A=)
8g.133018008A>CCA2579254902TGc.6782+11A>C (n.6782+11A>C)
c.168+142A>C
c.2148+11A>C
c.1181+11A>C (n.1181+11A>C)
c.3437+11A>C
c.6590+11A>C (n.6590+11A>C)
c.6719+11A>C (n.6719+11A>C)
c.6716+11A>C (n.6716+11A>C)
c.6611+11A>C (n.6611+11A>C)
c.6563+11A>C (n.6563+11A>C)
c.6521+11A>C (n.6521+11A>C)
 gnomAD v4
8g.133018008A>GCA4885019TGc.6782+11A>G (n.6782+11A>G)
c.168+142A>G
c.2148+11A>G
c.1181+11A>G (n.1181+11A>G)
c.3437+11A>G
c.6590+11A>G (n.6590+11A>G)
c.6719+11A>G (n.6719+11A>G)
c.6716+11A>G (n.6716+11A>G)
c.6611+11A>G (n.6611+11A>G)
c.6563+11A>G (n.6563+11A>G)
c.6521+11A>G (n.6521+11A>G)
 dbSNP ExAC
8g.133018009G>ACA585277772TGc.6782+12G>A (n.6782+12G>A)
c.168+143G>A
c.2148+12G>A
c.1181+12G>A (n.1181+12G>A)
c.3437+12G>A
c.6590+12G>A (n.6590+12G>A)
c.6719+12G>A (n.6719+12G>A)
c.6716+12G>A (n.6716+12G>A)
c.6611+12G>A (n.6611+12G>A)
c.6563+12G>A (n.6563+12G>A)
c.6521+12G>A (n.6521+12G>A)
 dbSNP gnomAD v2
8g.133018009G>CCA2579254903TGc.6782+12G>C (n.6782+12G>C)
c.168+143G>C
c.2148+12G>C
c.1181+12G>C (n.1181+12G>C)
c.3437+12G>C
c.6590+12G>C (n.6590+12G>C)
c.6719+12G>C (n.6719+12G>C)
c.6716+12G>C (n.6716+12G>C)
c.6611+12G>C (n.6611+12G>C)
c.6563+12G>C (n.6563+12G>C)
c.6521+12G>C (n.6521+12G>C)
 gnomAD v4
8g.133018009G=CA1821046496TGc.6782+12G= (n.6782+12G=)
c.168+143G=
c.2148+12G=
c.1181+12G= (n.1181+12G=)
c.3437+12G=
c.6590+12G= (n.6590+12G=)
c.6719+12G= (n.6719+12G=)
c.6716+12G= (n.6716+12G=)
c.6611+12G= (n.6611+12G=)
c.6563+12G= (n.6563+12G=)
c.6521+12G= (n.6521+12G=)
8g.133018010T>GCA847714434TGc.6782+13T>G (n.6782+13T>G)
c.168+144T>G
c.2148+13T>G
c.1181+13T>G (n.1181+13T>G)
c.3437+13T>G
c.6590+13T>G (n.6590+13T>G)
c.6719+13T>G (n.6719+13T>G)
c.6716+13T>G (n.6716+13T>G)
c.6611+13T>G (n.6611+13T>G)
c.6563+13T>G (n.6563+13T>G)
c.6521+13T>G (n.6521+13T>G)
 dbSNP gnomAD v3 gnomAD v4
8g.133018010T=CA1821046498TGc.6782+13T= (n.6782+13T=)
c.168+144T=
c.2148+13T=
c.1181+13T= (n.1181+13T=)
c.3437+13T=
c.6590+13T= (n.6590+13T=)
c.6719+13T= (n.6719+13T=)
c.6716+13T= (n.6716+13T=)
c.6611+13T= (n.6611+13T=)
c.6563+13T= (n.6563+13T=)
c.6521+13T= (n.6521+13T=)
8g.133018012dupCA2579254904TGc.6782+15dup (n.6782+15dup)
c.168+146dup
c.2148+15dup
c.1181+15dup (n.1181+15dup)
c.3437+15dup
c.6590+15dup (n.6590+15dup)
c.6719+15dup (n.6719+15dup)
c.6716+15dup (n.6716+15dup)
c.6611+15dup (n.6611+15dup)
c.6563+15dup (n.6563+15dup)
c.6521+15dup (n.6521+15dup)
 gnomAD v4
8g.133018012G>ACA2579254905TGc.6782+15G>A (n.6782+15G>A)
c.168+146G>A
c.2148+15G>A
c.1181+15G>A (n.1181+15G>A)
c.3437+15G>A
c.6590+15G>A (n.6590+15G>A)
c.6719+15G>A (n.6719+15G>A)
c.6716+15G>A (n.6716+15G>A)
c.6611+15G>A (n.6611+15G>A)
c.6563+15G>A (n.6563+15G>A)
c.6521+15G>A (n.6521+15G>A)
 gnomAD v4
8g.133018012G>CCA585277773TGc.6782+15G>C (n.6782+15G>C)
c.168+146G>C
c.2148+15G>C
c.1181+15G>C (n.1181+15G>C)
c.3437+15G>C
c.6590+15G>C (n.6590+15G>C)
c.6719+15G>C (n.6719+15G>C)
c.6716+15G>C (n.6716+15G>C)
c.6611+15G>C (n.6611+15G>C)
c.6563+15G>C (n.6563+15G>C)
c.6521+15G>C (n.6521+15G>C)
 dbSNP gnomAD v2 gnomAD v4
8g.133018012G=CA1821046500TGc.6782+15G= (n.6782+15G=)
c.168+146G=
c.2148+15G=
c.1181+15G= (n.1181+15G=)
c.3437+15G=
c.6590+15G= (n.6590+15G=)
c.6719+15G= (n.6719+15G=)
c.6716+15G= (n.6716+15G=)
c.6611+15G= (n.6611+15G=)
c.6563+15G= (n.6563+15G=)
c.6521+15G= (n.6521+15G=)
8g.133018013A=CA1821046501TGc.6782+16A= (n.6782+16A=)
c.168+147A=
c.2148+16A=
c.1181+16A= (n.1181+16A=)
c.3437+16A=
c.6590+16A= (n.6590+16A=)
c.6719+16A= (n.6719+16A=)
c.6716+16A= (n.6716+16A=)
c.6611+16A= (n.6611+16A=)
c.6563+16A= (n.6563+16A=)
c.6521+16A= (n.6521+16A=)
8g.133018014G>ACA2579254906TGc.6782+17G>A (n.6782+17G>A)
c.168+148G>A
c.2148+17G>A
c.1181+17G>A (n.1181+17G>A)
c.3437+17G>A
c.6590+17G>A (n.6590+17G>A)
c.6719+17G>A (n.6719+17G>A)
c.6716+17G>A (n.6716+17G>A)
c.6611+17G>A (n.6611+17G>A)
c.6563+17G>A (n.6563+17G>A)
c.6521+17G>A (n.6521+17G>A)
 ClinVar
8g.133018014G=CA1821046504TGc.6782+17G= (n.6782+17G=)
c.168+148G=
c.2148+17G=
c.1181+17G= (n.1181+17G=)
c.3437+17G=
c.6590+17G= (n.6590+17G=)
c.6719+17G= (n.6719+17G=)
c.6716+17G= (n.6716+17G=)
c.6611+17G= (n.6611+17G=)
c.6563+17G= (n.6563+17G=)
c.6521+17G= (n.6521+17G=)
8g.133018014G>TCA585277774TGc.6782+17G>T (n.6782+17G>T)
c.168+148G>T
c.2148+17G>T
c.1181+17G>T (n.1181+17G>T)
c.3437+17G>T
c.6590+17G>T (n.6590+17G>T)
c.6719+17G>T (n.6719+17G>T)
c.6716+17G>T (n.6716+17G>T)
c.6611+17G>T (n.6611+17G>T)
c.6563+17G>T (n.6563+17G>T)
c.6521+17G>T (n.6521+17G>T)
 dbSNP gnomAD v2
8g.133018015_133018016insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGCCA4885020TGc.6782+18_6782+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC (n.6782+18_6782+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC)
c.168+149_168+150insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC
c.2148+18_2148+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC
c.1181+18_1181+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC (n.1181+18_1181+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC)
c.3437+18_3437+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC
c.6590+18_6590+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC (n.6590+18_6590+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC)
c.6719+18_6719+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC (n.6719+18_6719+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC)
c.6716+18_6716+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC (n.6716+18_6716+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC)
c.6611+18_6611+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC (n.6611+18_6611+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC)
c.6563+18_6563+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC (n.6563+18_6563+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC)
c.6521+18_6521+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC (n.6521+18_6521+19insGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGC)
 dbSNP ExAC
8g.133018015C=CA1821046506TGc.6782+18C= (n.6782+18C=)
c.168+149C=
c.2148+18C=
c.1181+18C= (n.1181+18C=)
c.3437+18C=
c.6590+18C= (n.6590+18C=)
c.6719+18C= (n.6719+18C=)
c.6716+18C= (n.6716+18C=)
c.6611+18C= (n.6611+18C=)
c.6563+18C= (n.6563+18C=)
c.6521+18C= (n.6521+18C=)
8g.133018015C>TCA585277775TGc.6782+18C>T (n.6782+18C>T)
c.168+149C>T
c.2148+18C>T
c.1181+18C>T (n.1181+18C>T)
c.3437+18C>T
c.6590+18C>T (n.6590+18C>T)
c.6719+18C>T (n.6719+18C>T)
c.6716+18C>T (n.6716+18C>T)
c.6611+18C>T (n.6611+18C>T)
c.6563+18C>T (n.6563+18C>T)
c.6521+18C>T (n.6521+18C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133018017C>TCA2579254907TGc.6782+20C>T (n.6782+20C>T)
c.168+151C>T
c.2148+20C>T
c.1181+20C>T (n.1181+20C>T)
c.3437+20C>T
c.6590+20C>T (n.6590+20C>T)
c.6719+20C>T (n.6719+20C>T)
c.6716+20C>T (n.6716+20C>T)
c.6611+20C>T (n.6611+20C>T)
c.6563+20C>T (n.6563+20C>T)
c.6521+20C>T (n.6521+20C>T)
8g.133018018A>GCA2688656440TGc.6782+21A>G (n.6782+21A>G)
c.168+152A>G
c.2148+21A>G
c.1181+21A>G (n.1181+21A>G)
c.3437+21A>G
c.6590+21A>G (n.6590+21A>G)
c.6719+21A>G (n.6719+21A>G)
c.6716+21A>G (n.6716+21A>G)
c.6611+21A>G (n.6611+21A>G)
c.6563+21A>G (n.6563+21A>G)
c.6521+21A>G (n.6521+21A>G)
 gnomAD v4
8g.133018018_133018019insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGATCA2782274343TGc.6782+21_6782+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT (n.6782+21_6782+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT)
c.168+152_168+153insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT
c.2148+21_2148+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT
c.1181+21_1181+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT (n.1181+21_1181+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT)
c.3437+21_3437+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT
c.6590+21_6590+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT (n.6590+21_6590+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT)
c.6719+21_6719+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT (n.6719+21_6719+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT)
c.6716+21_6716+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT (n.6716+21_6716+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT)
c.6611+21_6611+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT (n.6611+21_6611+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT)
c.6563+21_6563+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT (n.6563+21_6563+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT)
c.6521+21_6521+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT (n.6521+21_6521+22insGAAGGTACAGATGCCTCATAGCTGAGCAGAGAGAT)
8g.133018019T>ACA2688656441TGc.6782+22T>A (n.6782+22T>A)
c.168+153T>A
c.2148+22T>A
c.1181+22T>A (n.1181+22T>A)
c.3437+22T>A
c.6590+22T>A (n.6590+22T>A)
c.6719+22T>A (n.6719+22T>A)
c.6716+22T>A (n.6716+22T>A)
c.6611+22T>A (n.6611+22T>A)
c.6563+22T>A (n.6563+22T>A)
c.6521+22T>A (n.6521+22T>A)
 gnomAD v4
8g.133018020C>ACA2688656442TGc.6782+23C>A (n.6782+23C>A)
c.168+154C>A
c.2148+23C>A
c.1181+23C>A (n.1181+23C>A)
c.3437+23C>A
c.6590+23C>A (n.6590+23C>A)
c.6719+23C>A (n.6719+23C>A)
c.6716+23C>A (n.6716+23C>A)
c.6611+23C>A (n.6611+23C>A)
c.6563+23C>A (n.6563+23C>A)
c.6521+23C>A (n.6521+23C>A)
 gnomAD v4
8g.133018020C=CA1821046508TGc.6782+23C= (n.6782+23C=)
c.168+154C=
c.2148+23C=
c.1181+23C= (n.1181+23C=)
c.3437+23C=
c.6590+23C= (n.6590+23C=)
c.6719+23C= (n.6719+23C=)
c.6716+23C= (n.6716+23C=)
c.6611+23C= (n.6611+23C=)
c.6563+23C= (n.6563+23C=)
c.6521+23C= (n.6521+23C=)
8g.133018020C>TCA1119405404TGc.6782+23C>T (n.6782+23C>T)
c.168+154C>T
c.2148+23C>T
c.1181+23C>T (n.1181+23C>T)
c.3437+23C>T
c.6590+23C>T (n.6590+23C>T)
c.6719+23C>T (n.6719+23C>T)
c.6716+23C>T (n.6716+23C>T)
c.6611+23C>T (n.6611+23C>T)
c.6563+23C>T (n.6563+23C>T)
c.6521+23C>T (n.6521+23C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.133018022T>GCA1119405410TGc.6782+25T>G (n.6782+25T>G)
c.168+156T>G
c.2148+25T>G
c.1181+25T>G (n.1181+25T>G)
c.3437+25T>G
c.6590+25T>G (n.6590+25T>G)
c.6719+25T>G (n.6719+25T>G)
c.6716+25T>G (n.6716+25T>G)
c.6611+25T>G (n.6611+25T>G)
c.6563+25T>G (n.6563+25T>G)
c.6521+25T>G (n.6521+25T>G)
 dbSNP gnomAD v3 gnomAD v4
8g.133018022T=CA1821046509TGc.6782+25T= (n.6782+25T=)
c.168+156T=
c.2148+25T=
c.1181+25T= (n.1181+25T=)
c.3437+25T=
c.6590+25T= (n.6590+25T=)
c.6719+25T= (n.6719+25T=)
c.6716+25T= (n.6716+25T=)
c.6611+25T= (n.6611+25T=)
c.6563+25T= (n.6563+25T=)
c.6521+25T= (n.6521+25T=)
8g.133018023G>ACA2782274344TGc.6782+26G>A (n.6782+26G>A)
c.168+157G>A
c.2148+26G>A
c.1181+26G>A (n.1181+26G>A)
c.3437+26G>A
c.6590+26G>A (n.6590+26G>A)
c.6719+26G>A (n.6719+26G>A)
c.6716+26G>A (n.6716+26G>A)
c.6611+26G>A (n.6611+26G>A)
c.6563+26G>A (n.6563+26G>A)
c.6521+26G>A (n.6521+26G>A)
8g.133018024G>ACA2782274345TGc.6782+27G>A (n.6782+27G>A)
c.168+158G>A
c.2148+27G>A
c.1181+27G>A (n.1181+27G>A)
c.3437+27G>A
c.6590+27G>A (n.6590+27G>A)
c.6719+27G>A (n.6719+27G>A)
c.6716+27G>A (n.6716+27G>A)
c.6611+27G>A (n.6611+27G>A)
c.6563+27G>A (n.6563+27G>A)
c.6521+27G>A (n.6521+27G>A)
8g.133018024G>TCA2688656443TGc.6782+27G>T (n.6782+27G>T)
c.168+158G>T
c.2148+27G>T
c.1181+27G>T (n.1181+27G>T)
c.3437+27G>T
c.6590+27G>T (n.6590+27G>T)
c.6719+27G>T (n.6719+27G>T)
c.6716+27G>T (n.6716+27G>T)
c.6611+27G>T (n.6611+27G>T)
c.6563+27G>T (n.6563+27G>T)
c.6521+27G>T (n.6521+27G>T)
 gnomAD v4
8g.133018025T>CCA4885021TGc.6782+28T>C (n.6782+28T>C)
c.168+159T>C
c.2148+28T>C
c.1181+28T>C (n.1181+28T>C)
c.3437+28T>C
c.6590+28T>C (n.6590+28T>C)
c.6719+28T>C (n.6719+28T>C)
c.6716+28T>C (n.6716+28T>C)
c.6611+28T>C (n.6611+28T>C)
c.6563+28T>C (n.6563+28T>C)
c.6521+28T>C (n.6521+28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.133018025T=CA1821046512TGc.6782+28T= (n.6782+28T=)
c.168+159T=
c.2148+28T=
c.1181+28T= (n.1181+28T=)
c.3437+28T=
c.6590+28T= (n.6590+28T=)
c.6719+28T= (n.6719+28T=)
c.6716+28T= (n.6716+28T=)
c.6611+28T= (n.6611+28T=)
c.6563+28T= (n.6563+28T=)
c.6521+28T= (n.6521+28T=)
8g.133018029T>ACA2782274346TGc.6782+32T>A (n.6782+32T>A)
c.168+163T>A
c.2148+32T>A
c.1181+32T>A (n.1181+32T>A)
c.3437+32T>A
c.6590+32T>A (n.6590+32T>A)
c.6719+32T>A (n.6719+32T>A)
c.6716+32T>A (n.6716+32T>A)
c.6611+32T>A (n.6611+32T>A)
c.6563+32T>A (n.6563+32T>A)
c.6521+32T>A (n.6521+32T>A)
8g.133018029T=CA1821046514TGc.6782+32T= (n.6782+32T=)
c.168+163T=
c.2148+32T=
c.1181+32T= (n.1181+32T=)
c.3437+32T=
c.6590+32T= (n.6590+32T=)
c.6719+32T= (n.6719+32T=)
c.6716+32T= (n.6716+32T=)
c.6611+32T= (n.6611+32T=)
c.6563+32T= (n.6563+32T=)
c.6521+32T= (n.6521+32T=)
8g.133018030G>ACA186291182TGc.6782+33G>A (n.6782+33G>A)
c.168+164G>A
c.2148+33G>A
c.1181+33G>A (n.1181+33G>A)
c.3437+33G>A
c.6590+33G>A (n.6590+33G>A)
c.6719+33G>A (n.6719+33G>A)
c.6716+33G>A (n.6716+33G>A)
c.6611+33G>A (n.6611+33G>A)
c.6563+33G>A (n.6563+33G>A)
c.6521+33G>A (n.6521+33G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.133018030G=CA1821046517TGc.6782+33G= (n.6782+33G=)
c.168+164G=
c.2148+33G=
c.1181+33G= (n.1181+33G=)
c.3437+33G=
c.6590+33G= (n.6590+33G=)
c.6719+33G= (n.6719+33G=)
c.6716+33G= (n.6716+33G=)
c.6611+33G= (n.6611+33G=)
c.6563+33G= (n.6563+33G=)
c.6521+33G= (n.6521+33G=)
8g.133018030G>TCA186291191TGc.6782+33G>T (n.6782+33G>T)
c.168+164G>T
c.2148+33G>T
c.1181+33G>T (n.1181+33G>T)
c.3437+33G>T
c.6590+33G>T (n.6590+33G>T)
c.6719+33G>T (n.6719+33G>T)
c.6716+33G>T (n.6716+33G>T)
c.6611+33G>T (n.6611+33G>T)
c.6563+33G>T (n.6563+33G>T)
c.6521+33G>T (n.6521+33G>T)
 dbSNP
8g.133018030dupCA1821046516TGc.6782+33dup (n.6782+33dup)
c.168+164dup
c.2148+33dup
c.1181+33dup (n.1181+33dup)
c.3437+33dup
c.6590+33dup (n.6590+33dup)
c.6719+33dup (n.6719+33dup)
c.6716+33dup (n.6716+33dup)
c.6611+33dup (n.6611+33dup)
c.6563+33dup (n.6563+33dup)
c.6521+33dup (n.6521+33dup)
 dbSNP
8g.133018031C>ACA585277776TGc.6782+34C>A (n.6782+34C>A)
c.168+165C>A
c.2148+34C>A
c.1181+34C>A (n.1181+34C>A)
c.3437+34C>A
c.6590+34C>A (n.6590+34C>A)
c.6719+34C>A (n.6719+34C>A)
c.6716+34C>A (n.6716+34C>A)
c.6611+34C>A (n.6611+34C>A)
c.6563+34C>A (n.6563+34C>A)
c.6521+34C>A (n.6521+34C>A)
 dbSNP gnomAD v2 gnomAD v4
8g.133018031C=CA1821046520TGc.6782+34C= (n.6782+34C=)
c.168+165C=
c.2148+34C=
c.1181+34C= (n.1181+34C=)
c.3437+34C=
c.6590+34C= (n.6590+34C=)
c.6719+34C= (n.6719+34C=)
c.6716+34C= (n.6716+34C=)
c.6611+34C= (n.6611+34C=)
c.6563+34C= (n.6563+34C=)
c.6521+34C= (n.6521+34C=)
8g.133018033C=CA1821046522TGc.6782+36C= (n.6782+36C=)
c.168+167C=
c.2148+36C=
c.1181+36C= (n.1181+36C=)
c.3437+36C=
c.6590+36C= (n.6590+36C=)
c.6719+36C= (n.6719+36C=)
c.6716+36C= (n.6716+36C=)
c.6611+36C= (n.6611+36C=)
c.6563+36C= (n.6563+36C=)
c.6521+36C= (n.6521+36C=)
8g.133018033C>TCA186291192TGc.6782+36C>T (n.6782+36C>T)
c.168+167C>T
c.2148+36C>T
c.1181+36C>T (n.1181+36C>T)
c.3437+36C>T
c.6590+36C>T (n.6590+36C>T)
c.6719+36C>T (n.6719+36C>T)
c.6716+36C>T (n.6716+36C>T)
c.6611+36C>T (n.6611+36C>T)
c.6563+36C>T (n.6563+36C>T)
c.6521+36C>T (n.6521+36C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.133018034A=CA1821046525TGc.6782+37A= (n.6782+37A=)
c.168+168A=
c.2148+37A=
c.1181+37A= (n.1181+37A=)
c.3437+37A=
c.6590+37A= (n.6590+37A=)
c.6719+37A= (n.6719+37A=)
c.6716+37A= (n.6716+37A=)
c.6611+37A= (n.6611+37A=)
c.6563+37A= (n.6563+37A=)
c.6521+37A= (n.6521+37A=)
8g.133018034A>GCA4885022TGc.6782+37A>G (n.6782+37A>G)
c.168+168A>G
c.2148+37A>G
c.1181+37A>G (n.1181+37A>G)
c.3437+37A>G
c.6590+37A>G (n.6590+37A>G)
c.6719+37A>G (n.6719+37A>G)
c.6716+37A>G (n.6716+37A>G)
c.6611+37A>G (n.6611+37A>G)
c.6563+37A>G (n.6563+37A>G)
c.6521+37A>G (n.6521+37A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133018034A>TCA2688656444TGc.6782+37A>T (n.6782+37A>T)
c.168+168A>T
c.2148+37A>T
c.1181+37A>T (n.1181+37A>T)
c.3437+37A>T
c.6590+37A>T (n.6590+37A>T)
c.6719+37A>T (n.6719+37A>T)
c.6716+37A>T (n.6716+37A>T)
c.6611+37A>T (n.6611+37A>T)
c.6563+37A>T (n.6563+37A>T)
c.6521+37A>T (n.6521+37A>T)
 gnomAD v4
8g.133018035G>CCA4885023TGc.6782+38G>C (n.6782+38G>C)
c.168+169G>C
c.2148+38G>C
c.1181+38G>C (n.1181+38G>C)
c.3437+38G>C
c.6590+38G>C (n.6590+38G>C)
c.6719+38G>C (n.6719+38G>C)
c.6716+38G>C (n.6716+38G>C)
c.6611+38G>C (n.6611+38G>C)
c.6563+38G>C (n.6563+38G>C)
c.6521+38G>C (n.6521+38G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133018035G=CA1821046527TGc.6782+38G= (n.6782+38G=)
c.168+169G=
c.2148+38G=
c.1181+38G= (n.1181+38G=)
c.3437+38G=
c.6590+38G= (n.6590+38G=)
c.6719+38G= (n.6719+38G=)
c.6716+38G= (n.6716+38G=)
c.6611+38G= (n.6611+38G=)
c.6563+38G= (n.6563+38G=)
c.6521+38G= (n.6521+38G=)
8g.133018035G>TCA2688656445TGc.6782+38G>T (n.6782+38G>T)
c.168+169G>T
c.2148+38G>T
c.1181+38G>T (n.1181+38G>T)
c.3437+38G>T
c.6590+38G>T (n.6590+38G>T)
c.6719+38G>T (n.6719+38G>T)
c.6716+38G>T (n.6716+38G>T)
c.6611+38G>T (n.6611+38G>T)
c.6563+38G>T (n.6563+38G>T)
c.6521+38G>T (n.6521+38G>T)
 gnomAD v4
8g.133018036A=CA1821046531TGc.6782+39A= (n.6782+39A=)
c.168+170A=
c.2148+39A=
c.1181+39A= (n.1181+39A=)
c.3437+39A=
c.6590+39A= (n.6590+39A=)
c.6719+39A= (n.6719+39A=)
c.6716+39A= (n.6716+39A=)
c.6611+39A= (n.6611+39A=)
c.6563+39A= (n.6563+39A=)
c.6521+39A= (n.6521+39A=)
8g.133018036A>GCA1821046533TGc.6782+39A>G (n.6782+39A>G)
c.168+170A>G
c.2148+39A>G
c.1181+39A>G (n.1181+39A>G)
c.3437+39A>G
c.6590+39A>G (n.6590+39A>G)
c.6719+39A>G (n.6719+39A>G)
c.6716+39A>G (n.6716+39A>G)
c.6611+39A>G (n.6611+39A>G)
c.6563+39A>G (n.6563+39A>G)
c.6521+39A>G (n.6521+39A>G)
 dbSNP
8g.133018037G>ACA4885024TGc.6782+40G>A (n.6782+40G>A)
c.168+171G>A
c.2148+40G>A
c.1181+40G>A (n.1181+40G>A)
c.3437+40G>A
c.6590+40G>A (n.6590+40G>A)
c.6719+40G>A (n.6719+40G>A)
c.6716+40G>A (n.6716+40G>A)
c.6611+40G>A (n.6611+40G>A)
c.6563+40G>A (n.6563+40G>A)
c.6521+40G>A (n.6521+40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.133018037G=CA1821046534TGc.6782+40G= (n.6782+40G=)
c.168+171G=
c.2148+40G=
c.1181+40G= (n.1181+40G=)
c.3437+40G=
c.6590+40G= (n.6590+40G=)
c.6719+40G= (n.6719+40G=)
c.6716+40G= (n.6716+40G=)
c.6611+40G= (n.6611+40G=)
c.6563+40G= (n.6563+40G=)
c.6521+40G= (n.6521+40G=)
8g.133018040A=CA1821046537TGc.6782+43A= (n.6782+43A=)
c.168+174A=
c.2148+43A=
c.1181+43A= (n.1181+43A=)
c.3437+43A=
c.6590+43A= (n.6590+43A=)
c.6719+43A= (n.6719+43A=)
c.6716+43A= (n.6716+43A=)
c.6611+43A= (n.6611+43A=)
c.6563+43A= (n.6563+43A=)
c.6521+43A= (n.6521+43A=)
8g.133018040A>GCA186291201TGc.6782+43A>G (n.6782+43A>G)
c.168+174A>G
c.2148+43A>G
c.1181+43A>G (n.1181+43A>G)
c.3437+43A>G
c.6590+43A>G (n.6590+43A>G)
c.6719+43A>G (n.6719+43A>G)
c.6716+43A>G (n.6716+43A>G)
c.6611+43A>G (n.6611+43A>G)
c.6563+43A>G (n.6563+43A>G)
c.6521+43A>G (n.6521+43A>G)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched