| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.74525404A= | CA1920088449 | ADK | c.704A= (p.Asp235=) c.653A= (p.Asp218=) c.428A= (p.Asp143=) c.556-63878A= (n.556-63878A=) c.444A= c.*449A= (n.*449A=) c.599A= (p.Asp200=) n.41A= n.259+2362T= c.620A= (p.Asp207=) c.509A= (p.Asp170=) c.505-63878A= (n.505-63878A=) | |
| 10 | g.74525404A>C | CA249478 | ADK | c.704A>C (p.Asp235Ala) c.653A>C (p.Asp218Ala) c.428A>C (p.Asp143Ala) c.556-63878A>C (n.556-63878A>C) c.444A>C c.*449A>C (n.*449A>C) c.599A>C (p.Asp200Ala) n.41A>C n.259+2362T>G c.620A>C (p.Asp207Ala) c.509A>C (p.Asp170Ala) c.505-63878A>C (n.505-63878A>C) | ClinVar dbSNP |
| 10 | g.74525404A>G | CA377398148 | ADK | c.704A>G (p.Asp235Gly) c.653A>G (p.Asp218Gly) c.428A>G (p.Asp143Gly) c.556-63878A>G (n.556-63878A>G) c.444A>G c.*449A>G (n.*449A>G) c.599A>G (p.Asp200Gly) n.41A>G n.259+2362T>C c.620A>G (p.Asp207Gly) c.509A>G (p.Asp170Gly) c.505-63878A>G (n.505-63878A>G) | |
| 10 | g.74525404A>T | CA377398149 | ADK | c.704A>T (p.Asp235Val) c.653A>T (p.Asp218Val) c.428A>T (p.Asp143Val) c.556-63878A>T (n.556-63878A>T) c.444A>T c.*449A>T (n.*449A>T) c.599A>T (p.Asp200Val) n.41A>T n.259+2362T>A c.620A>T (p.Asp207Val) c.509A>T (p.Asp170Val) c.505-63878A>T (n.505-63878A>T) | |
| 10 | g.74525405T>A | CA377398150 | ADK | c.705T>A (p.Asp235Glu) c.654T>A (p.Asp218Glu) c.429T>A (p.Asp143Glu) c.556-63877T>A (n.556-63877T>A) c.445T>A c.*450T>A (n.*450T>A) c.600T>A (p.Asp200Glu) n.42T>A n.259+2361A>T c.621T>A (p.Asp207Glu) c.510T>A (p.Asp170Glu) c.505-63877T>A (n.505-63877T>A) | |
| 10 | g.74525405T>C | CA5564013 | ADK | c.705T>C (p.Asp235=) c.654T>C (p.Asp218=) c.429T>C (p.Asp143=) c.556-63877T>C (n.556-63877T>C) c.445T>C c.*450T>C (n.*450T>C) c.600T>C (p.Asp200=) n.42T>C n.259+2361A>G c.621T>C (p.Asp207=) c.510T>C (p.Asp170=) c.505-63877T>C (n.505-63877T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525405T>G | CA377398151 | ADK | c.705T>G (p.Asp235Glu) c.654T>G (p.Asp218Glu) c.429T>G (p.Asp143Glu) c.556-63877T>G (n.556-63877T>G) c.445T>G c.*450T>G (n.*450T>G) c.600T>G (p.Asp200Glu) n.42T>G n.259+2361A>C c.621T>G (p.Asp207Glu) c.510T>G (p.Asp170Glu) c.505-63877T>G (n.505-63877T>G) | |
| 10 | g.74525405T= | CA1920088455 | ADK | c.705T= (p.Asp235=) c.654T= (p.Asp218=) c.429T= (p.Asp143=) c.556-63877T= (n.556-63877T=) c.445T= c.*450T= (n.*450T=) c.600T= (p.Asp200=) n.42T= n.259+2361A= c.621T= (p.Asp207=) c.510T= (p.Asp170=) c.505-63877T= (n.505-63877T=) | |
| 10 | g.74525406A>C | CA377398152 | ADK | c.706A>C (p.Ile236Leu) c.655A>C (p.Ile219Leu) c.430A>C (p.Ile144Leu) c.556-63876A>C (n.556-63876A>C) c.446A>C c.*451A>C (n.*451A>C) c.601A>C (p.Ile201Leu) n.43A>C n.259+2360T>G c.622A>C (p.Ile208Leu) c.511A>C (p.Ile171Leu) c.505-63876A>C (n.505-63876A>C) | |
| 10 | g.74525406A>G | CA377398153 | ADK | c.706A>G (p.Ile236Val) c.655A>G (p.Ile219Val) c.430A>G (p.Ile144Val) c.556-63876A>G (n.556-63876A>G) c.446A>G c.*451A>G (n.*451A>G) c.601A>G (p.Ile201Val) n.43A>G n.259+2360T>C c.622A>G (p.Ile208Val) c.511A>G (p.Ile171Val) c.505-63876A>G (n.505-63876A>G) | gnomAD v4 |
| 10 | g.74525406A>T | CA377398154 | ADK | c.706A>T (p.Ile236Leu) c.655A>T (p.Ile219Leu) c.430A>T (p.Ile144Leu) c.556-63876A>T (n.556-63876A>T) c.446A>T c.*451A>T (n.*451A>T) c.601A>T (p.Ile201Leu) n.43A>T n.259+2360T>A c.622A>T (p.Ile208Leu) c.511A>T (p.Ile171Leu) c.505-63876A>T (n.505-63876A>T) | |
| 10 | g.74525407T>A | CA377398156 | ADK | c.707T>A (p.Ile236Lys) c.656T>A (p.Ile219Lys) c.431T>A (p.Ile144Lys) c.556-63875T>A (n.556-63875T>A) c.447T>A c.*452T>A (n.*452T>A) c.602T>A (p.Ile201Lys) n.44T>A n.259+2359A>T c.623T>A (p.Ile208Lys) c.512T>A (p.Ile171Lys) c.505-63875T>A (n.505-63875T>A) | |
| 10 | g.74525407T>C | CA5564014 | ADK | c.707T>C (p.Ile236Thr) c.656T>C (p.Ile219Thr) c.431T>C (p.Ile144Thr) c.556-63875T>C (n.556-63875T>C) c.447T>C c.*452T>C (n.*452T>C) c.602T>C (p.Ile201Thr) n.44T>C n.259+2359A>G c.623T>C (p.Ile208Thr) c.512T>C (p.Ile171Thr) c.505-63875T>C (n.505-63875T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525407T>G | CA377398155 | ADK | c.707T>G (p.Ile236Arg) c.656T>G (p.Ile219Arg) c.431T>G (p.Ile144Arg) c.556-63875T>G (n.556-63875T>G) c.447T>G c.*452T>G (n.*452T>G) c.602T>G (p.Ile201Arg) n.44T>G n.259+2359A>C c.623T>G (p.Ile208Arg) c.512T>G (p.Ile171Arg) c.505-63875T>G (n.505-63875T>G) | |
| 10 | g.74525407T= | CA1920088459 | ADK | c.707T= (p.Ile236=) c.656T= (p.Ile219=) c.431T= (p.Ile144=) c.556-63875T= (n.556-63875T=) c.447T= c.*452T= (n.*452T=) c.602T= (p.Ile201=) n.44T= n.259+2359A= c.623T= (p.Ile208=) c.512T= (p.Ile171=) c.505-63875T= (n.505-63875T=) | |
| 10 | g.74525408A>C | CA470254856 | ADK | c.708A>C (p.Ile236=) c.657A>C (p.Ile219=) c.432A>C (p.Ile144=) c.556-63874A>C (n.556-63874A>C) c.448A>C c.*453A>C (n.*453A>C) c.603A>C (p.Ile201=) n.45A>C n.259+2358T>G c.624A>C (p.Ile208=) c.513A>C (p.Ile171=) c.505-63874A>C (n.505-63874A>C) | |
| 10 | g.74525408A>G | CA377398157 | ADK | c.708A>G (p.Ile236Met) c.657A>G (p.Ile219Met) c.432A>G (p.Ile144Met) c.556-63874A>G (n.556-63874A>G) c.448A>G c.*453A>G (n.*453A>G) c.603A>G (p.Ile201Met) n.45A>G n.259+2358T>C c.624A>G (p.Ile208Met) c.513A>G (p.Ile171Met) c.505-63874A>G (n.505-63874A>G) | gnomAD v4 |
| 10 | g.74525408A>T | CA470254857 | ADK | c.708A>T (p.Ile236=) c.657A>T (p.Ile219=) c.432A>T (p.Ile144=) c.556-63874A>T (n.556-63874A>T) c.448A>T c.*453A>T (n.*453A>T) c.603A>T (p.Ile201=) n.45A>T n.259+2358T>A c.624A>T (p.Ile208=) c.513A>T (p.Ile171=) c.505-63874A>T (n.505-63874A>T) | |
| 10 | g.74525409C>A | CA377398158 | ADK | c.709C>A (p.Leu237Ile) c.658C>A (p.Leu220Ile) c.433C>A (p.Leu145Ile) c.556-63873C>A (n.556-63873C>A) c.449C>A c.*454C>A (n.*454C>A) c.604C>A (p.Leu202Ile) n.46C>A n.259+2357G>T c.625C>A (p.Leu209Ile) c.514C>A (p.Leu172Ile) c.505-63873C>A (n.505-63873C>A) | |
| 10 | g.74525409C>G | CA377398159 | ADK | c.709C>G (p.Leu237Val) c.658C>G (p.Leu220Val) c.433C>G (p.Leu145Val) c.556-63873C>G (n.556-63873C>G) c.449C>G c.*454C>G (n.*454C>G) c.604C>G (p.Leu202Val) n.46C>G n.259+2357G>C c.625C>G (p.Leu209Val) c.514C>G (p.Leu172Val) c.505-63873C>G (n.505-63873C>G) | gnomAD v4 |
| 10 | g.74525409C>T | CA377398160 | ADK | c.709C>T (p.Leu237Phe) c.658C>T (p.Leu220Phe) c.433C>T (p.Leu145Phe) c.556-63873C>T (n.556-63873C>T) c.449C>T c.*454C>T (n.*454C>T) c.604C>T (p.Leu202Phe) n.46C>T n.259+2357G>A c.625C>T (p.Leu209Phe) c.514C>T (p.Leu172Phe) c.505-63873C>T (n.505-63873C>T) | gnomAD v4 |
| 10 | g.74525410T>A | CA377398161 | ADK | c.710T>A (p.Leu237His) c.659T>A (p.Leu220His) c.434T>A (p.Leu145His) c.556-63872T>A (n.556-63872T>A) c.450T>A c.*455T>A (n.*455T>A) c.605T>A (p.Leu202His) n.47T>A n.259+2356A>T c.626T>A (p.Leu209His) c.515T>A (p.Leu172His) c.505-63872T>A (n.505-63872T>A) | |
| 10 | g.74525410T>C | CA377398162 | ADK | c.710T>C (p.Leu237Pro) c.659T>C (p.Leu220Pro) c.434T>C (p.Leu145Pro) c.556-63872T>C (n.556-63872T>C) c.450T>C c.*455T>C (n.*455T>C) c.605T>C (p.Leu202Pro) n.47T>C n.259+2356A>G c.626T>C (p.Leu209Pro) c.515T>C (p.Leu172Pro) c.505-63872T>C (n.505-63872T>C) | |
| 10 | g.74525410T>G | CA377398163 | ADK | c.710T>G (p.Leu237Arg) c.659T>G (p.Leu220Arg) c.434T>G (p.Leu145Arg) c.556-63872T>G (n.556-63872T>G) c.450T>G c.*455T>G (n.*455T>G) c.605T>G (p.Leu202Arg) n.47T>G n.259+2356A>C c.626T>G (p.Leu209Arg) c.515T>G (p.Leu172Arg) c.505-63872T>G (n.505-63872T>G) | |
| 10 | g.74525414del | CA2574586163 | ADK | c.714del (p.Phe238LeufsTer24) c.663del (p.Phe221LeufsTer24) c.438del (p.Phe146LeufsTer24) c.556-63868del (n.556-63868del) c.454del c.*459del (n.*459del) c.609del (p.Phe203LeufsTer24) c.663del (p.Phe221LeufsTer?) c.714del (p.Phe238LeufsTer19) n.51del n.259+2356del c.630del (p.Phe210LeufsTer24) c.519del (p.Phe173LeufsTer24) c.505-63868del (n.505-63868del) c.663del (p.Phe221LeufsTer19) c.714del (p.Phe238LeufsTer?) | |
| 10 | g.74525411T>A | CA470254860 | ADK | c.711T>A (p.Leu237=) c.660T>A (p.Leu220=) c.435T>A (p.Leu145=) c.556-63871T>A (n.556-63871T>A) c.451T>A c.*456T>A (n.*456T>A) c.606T>A (p.Leu202=) n.48T>A n.259+2355A>T c.627T>A (p.Leu209=) c.516T>A (p.Leu172=) c.505-63871T>A (n.505-63871T>A) | |
| 10 | g.74525411T>C | CA470254859 | ADK | c.711T>C (p.Leu237=) c.660T>C (p.Leu220=) c.435T>C (p.Leu145=) c.556-63871T>C (n.556-63871T>C) c.451T>C c.*456T>C (n.*456T>C) c.606T>C (p.Leu202=) n.48T>C n.259+2355A>G c.627T>C (p.Leu209=) c.516T>C (p.Leu172=) c.505-63871T>C (n.505-63871T>C) | |
| 10 | g.74525411T>G | CA470254858 | ADK | c.711T>G (p.Leu237=) c.660T>G (p.Leu220=) c.435T>G (p.Leu145=) c.556-63871T>G (n.556-63871T>G) c.451T>G c.*456T>G (n.*456T>G) c.606T>G (p.Leu202=) n.48T>G n.259+2355A>C c.627T>G (p.Leu209=) c.516T>G (p.Leu172=) c.505-63871T>G (n.505-63871T>G) | gnomAD v4 |
| 10 | g.74525412T>A | CA377398164 | ADK | c.712T>A (p.Phe238Ile) c.661T>A (p.Phe221Ile) c.436T>A (p.Phe146Ile) c.556-63870T>A (n.556-63870T>A) c.452T>A c.*457T>A (n.*457T>A) c.607T>A (p.Phe203Ile) n.49T>A n.259+2354A>T c.628T>A (p.Phe210Ile) c.517T>A (p.Phe173Ile) c.505-63870T>A (n.505-63870T>A) | |
| 10 | g.74525412T>C | CA377398165 | ADK | c.712T>C (p.Phe238Leu) c.661T>C (p.Phe221Leu) c.436T>C (p.Phe146Leu) c.556-63870T>C (n.556-63870T>C) c.452T>C c.*457T>C (n.*457T>C) c.607T>C (p.Phe203Leu) n.49T>C n.259+2354A>G c.628T>C (p.Phe210Leu) c.517T>C (p.Phe173Leu) c.505-63870T>C (n.505-63870T>C) | |
| 10 | g.74525412T>G | CA377398166 | ADK | c.712T>G (p.Phe238Val) c.661T>G (p.Phe221Val) c.436T>G (p.Phe146Val) c.556-63870T>G (n.556-63870T>G) c.452T>G c.*457T>G (n.*457T>G) c.607T>G (p.Phe203Val) n.49T>G n.259+2354A>C c.628T>G (p.Phe210Val) c.517T>G (p.Phe173Val) c.505-63870T>G (n.505-63870T>G) | |
| 10 | g.74525413T>A | CA377398167 | ADK | c.713T>A (p.Phe238Tyr) c.662T>A (p.Phe221Tyr) c.437T>A (p.Phe146Tyr) c.556-63869T>A (n.556-63869T>A) c.453T>A c.*458T>A (n.*458T>A) c.608T>A (p.Phe203Tyr) n.50T>A n.259+2353A>T c.629T>A (p.Phe210Tyr) c.518T>A (p.Phe173Tyr) c.505-63869T>A (n.505-63869T>A) | |
| 10 | g.74525413T>C | CA377398168 | ADK | c.713T>C (p.Phe238Ser) c.662T>C (p.Phe221Ser) c.437T>C (p.Phe146Ser) c.556-63869T>C (n.556-63869T>C) c.453T>C c.*458T>C (n.*458T>C) c.608T>C (p.Phe203Ser) n.50T>C n.259+2353A>G c.629T>C (p.Phe210Ser) c.518T>C (p.Phe173Ser) c.505-63869T>C (n.505-63869T>C) | |
| 10 | g.74525413T>G | CA377398169 | ADK | c.713T>G (p.Phe238Cys) c.662T>G (p.Phe221Cys) c.437T>G (p.Phe146Cys) c.556-63869T>G (n.556-63869T>G) c.453T>G c.*458T>G (n.*458T>G) c.608T>G (p.Phe203Cys) n.50T>G n.259+2353A>C c.629T>G (p.Phe210Cys) c.518T>G (p.Phe173Cys) c.505-63869T>G (n.505-63869T>G) | |
| 10 | g.74525414T>A | CA377398170 | ADK | c.714T>A (p.Phe238Leu) c.663T>A (p.Phe221Leu) c.438T>A (p.Phe146Leu) c.556-63868T>A (n.556-63868T>A) c.454T>A c.*459T>A (n.*459T>A) c.609T>A (p.Phe203Leu) n.51T>A n.259+2352A>T c.630T>A (p.Phe210Leu) c.519T>A (p.Phe173Leu) c.505-63868T>A (n.505-63868T>A) | |
| 10 | g.74525414T>C | CA470254861 | ADK | c.714T>C (p.Phe238=) c.663T>C (p.Phe221=) c.438T>C (p.Phe146=) c.556-63868T>C (n.556-63868T>C) c.454T>C c.*459T>C (n.*459T>C) c.609T>C (p.Phe203=) n.51T>C n.259+2352A>G c.630T>C (p.Phe210=) c.519T>C (p.Phe173=) c.505-63868T>C (n.505-63868T>C) | gnomAD v4 |
| 10 | g.74525414T>G | CA377398171 | ADK | c.714T>G (p.Phe238Leu) c.663T>G (p.Phe221Leu) c.438T>G (p.Phe146Leu) c.556-63868T>G (n.556-63868T>G) c.454T>G c.*459T>G (n.*459T>G) c.609T>G (p.Phe203Leu) n.51T>G n.259+2352A>C c.630T>G (p.Phe210Leu) c.519T>G (p.Phe173Leu) c.505-63868T>G (n.505-63868T>G) | |
| 10 | g.74525415G>A | CA377398172 | ADK | c.715G>A (p.Gly239Arg) c.664G>A (p.Gly222Arg) c.439G>A (p.Gly147Arg) c.556-63867G>A (n.556-63867G>A) c.455G>A c.*460G>A (n.*460G>A) c.610G>A (p.Gly204Arg) n.52G>A n.259+2351C>T c.631G>A (p.Gly211Arg) c.520G>A (p.Gly174Arg) c.505-63867G>A (n.505-63867G>A) | |
| 10 | g.74525415G>C | CA377398173 | ADK | c.715G>C (p.Gly239Arg) c.664G>C (p.Gly222Arg) c.439G>C (p.Gly147Arg) c.556-63867G>C (n.556-63867G>C) c.455G>C c.*460G>C (n.*460G>C) c.610G>C (p.Gly204Arg) n.52G>C n.259+2351C>G c.631G>C (p.Gly211Arg) c.520G>C (p.Gly174Arg) c.505-63867G>C (n.505-63867G>C) | |
| 10 | g.74525415G>T | CA377398174 | ADK | c.715G>T (p.Gly239Ter) c.664G>T (p.Gly222Ter) c.439G>T (p.Gly147Ter) c.556-63867G>T (n.556-63867G>T) c.455G>T c.*460G>T (n.*460G>T) c.610G>T (p.Gly204Ter) n.52G>T n.259+2351C>A c.631G>T (p.Gly211Ter) c.520G>T (p.Gly174Ter) c.505-63867G>T (n.505-63867G>T) | |
| 10 | g.74525416G>A | CA377398175 | ADK | c.716G>A (p.Gly239Glu) c.665G>A (p.Gly222Glu) c.440G>A (p.Gly147Glu) c.556-63866G>A (n.556-63866G>A) c.456G>A c.*461G>A (n.*461G>A) c.611G>A (p.Gly204Glu) n.53G>A n.259+2350C>T c.632G>A (p.Gly211Glu) c.521G>A (p.Gly174Glu) c.505-63866G>A (n.505-63866G>A) | gnomAD v4 |
| 10 | g.74525416G>C | CA377398176 | ADK | c.716G>C (p.Gly239Ala) c.665G>C (p.Gly222Ala) c.440G>C (p.Gly147Ala) c.556-63866G>C (n.556-63866G>C) c.456G>C c.*461G>C (n.*461G>C) c.611G>C (p.Gly204Ala) n.53G>C n.259+2350C>G c.632G>C (p.Gly211Ala) c.521G>C (p.Gly174Ala) c.505-63866G>C (n.505-63866G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.74525416G= | CA1920088463 | ADK | c.716G= (p.Gly239=) c.665G= (p.Gly222=) c.440G= (p.Gly147=) c.556-63866G= (n.556-63866G=) c.456G= c.*461G= (n.*461G=) c.611G= (p.Gly204=) n.53G= n.259+2350C= c.632G= (p.Gly211=) c.521G= (p.Gly174=) c.505-63866G= (n.505-63866G=) | |
| 10 | g.74525416G>T | CA377398177 | ADK | c.716G>T (p.Gly239Val) c.665G>T (p.Gly222Val) c.440G>T (p.Gly147Val) c.556-63866G>T (n.556-63866G>T) c.456G>T c.*461G>T (n.*461G>T) c.611G>T (p.Gly204Val) n.53G>T n.259+2350C>A c.632G>T (p.Gly211Val) c.521G>T (p.Gly174Val) c.505-63866G>T (n.505-63866G>T) | |
| 10 | g.74525417A= | CA1920088466 | ADK | c.717A= (p.Gly239=) c.666A= (p.Gly222=) c.441A= (p.Gly147=) c.556-63865A= (n.556-63865A=) c.457A= c.*462A= (n.*462A=) c.612A= (p.Gly204=) n.54A= n.259+2349T= c.633A= (p.Gly211=) c.522A= (p.Gly174=) c.505-63865A= (n.505-63865A=) | |
| 10 | g.74525417A>C | CA5564015 | ADK | c.717A>C (p.Gly239=) c.666A>C (p.Gly222=) c.441A>C (p.Gly147=) c.556-63865A>C (n.556-63865A>C) c.457A>C c.*462A>C (n.*462A>C) c.612A>C (p.Gly204=) n.54A>C n.259+2349T>G c.633A>C (p.Gly211=) c.522A>C (p.Gly174=) c.505-63865A>C (n.505-63865A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.74525417A>G | CA470254863 | ADK | c.717A>G (p.Gly239=) c.666A>G (p.Gly222=) c.441A>G (p.Gly147=) c.556-63865A>G (n.556-63865A>G) c.457A>G c.*462A>G (n.*462A>G) c.612A>G (p.Gly204=) n.54A>G n.259+2349T>C c.633A>G (p.Gly211=) c.522A>G (p.Gly174=) c.505-63865A>G (n.505-63865A>G) | |
| 10 | g.74525417A>T | CA470254862 | ADK | c.717A>T (p.Gly239=) c.666A>T (p.Gly222=) c.441A>T (p.Gly147=) c.556-63865A>T (n.556-63865A>T) c.457A>T c.*462A>T (n.*462A>T) c.612A>T (p.Gly204=) n.54A>T n.259+2349T>A c.633A>T (p.Gly211=) c.522A>T (p.Gly174=) c.505-63865A>T (n.505-63865A>T) | |
| 10 | g.74525418A>C | CA377398180 | ADK | c.718A>C (p.Asn240His) c.667A>C (p.Asn223His) c.442A>C (p.Asn148His) c.556-63864A>C (n.556-63864A>C) c.458A>C c.*463A>C (n.*463A>C) c.613A>C (p.Asn205His) n.55A>C n.259+2348T>G c.634A>C (p.Asn212His) c.523A>C (p.Asn175His) c.505-63864A>C (n.505-63864A>C) | |
| 10 | g.74525418A>G | CA377398178 | ADK | c.718A>G (p.Asn240Asp) c.667A>G (p.Asn223Asp) c.442A>G (p.Asn148Asp) c.556-63864A>G (n.556-63864A>G) c.458A>G c.*463A>G (n.*463A>G) c.613A>G (p.Asn205Asp) n.55A>G n.259+2348T>C c.634A>G (p.Asn212Asp) c.523A>G (p.Asn175Asp) c.505-63864A>G (n.505-63864A>G) |