Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.232534051T>A | CA351005167 | CHRND | c.1168T>A (p.Tyr390Asn) c.*350T>A (n.*350T>A) c.*809T>A (n.*809T>A) c.1123T>A (p.Tyr375Asn) c.586T>A (p.Tyr196Asn) c.865T>A (p.Tyr289Asn) c.-4294966383T>A c.-4294966104T>A c.787T>A (p.Tyr263Asn) | |
2 | g.232534051T>C | CA351005168 | CHRND | c.1168T>C (p.Tyr390His) c.*350T>C (n.*350T>C) c.*809T>C (n.*809T>C) c.1123T>C (p.Tyr375His) c.586T>C (p.Tyr196His) c.865T>C (p.Tyr289His) c.-4294966383T>C c.-4294966104T>C c.787T>C (p.Tyr263His) | |
2 | g.232534051T>G | CA351005169 | CHRND | c.1168T>G (p.Tyr390Asp) c.*350T>G (n.*350T>G) c.*809T>G (n.*809T>G) c.1123T>G (p.Tyr375Asp) c.586T>G (p.Tyr196Asp) c.865T>G (p.Tyr289Asp) c.-4294966383T>G c.-4294966104T>G c.787T>G (p.Tyr263Asp) | |
2 | g.232534052A>C | CA351005170 | CHRND | c.1169A>C (p.Tyr390Ser) c.*351A>C (n.*351A>C) c.*810A>C (n.*810A>C) c.1124A>C (p.Tyr375Ser) c.587A>C (p.Tyr196Ser) c.866A>C (p.Tyr289Ser) c.-4294966382A>C c.-4294966103A>C c.788A>C (p.Tyr263Ser) | |
2 | g.232534052A>G | CA351005171 | CHRND | c.1169A>G (p.Tyr390Cys) c.*351A>G (n.*351A>G) c.*810A>G (n.*810A>G) c.1124A>G (p.Tyr375Cys) c.587A>G (p.Tyr196Cys) c.866A>G (p.Tyr289Cys) c.-4294966382A>G c.-4294966103A>G c.788A>G (p.Tyr263Cys) | |
2 | g.232534052A>T | CA351005172 | CHRND | c.1169A>T (p.Tyr390Phe) c.*351A>T (n.*351A>T) c.*810A>T (n.*810A>T) c.1124A>T (p.Tyr375Phe) c.587A>T (p.Tyr196Phe) c.866A>T (p.Tyr289Phe) c.-4294966382A>T c.-4294966103A>T c.788A>T (p.Tyr263Phe) | |
2 | g.232534053C>A | CA351005173 | CHRND | c.1170C>A (p.Tyr390Ter) c.*352C>A (n.*352C>A) c.*811C>A (n.*811C>A) c.1125C>A (p.Tyr375Ter) c.588C>A (p.Tyr196Ter) c.867C>A (p.Tyr289Ter) c.-4294966381C>A c.-4294966102C>A c.789C>A (p.Tyr263Ter) | dbSNP |
2 | g.232534053C= | CA1335313988 | CHRND | c.1170C= (p.Tyr390=) c.*352C= (n.*352C=) c.*811C= (n.*811C=) c.1125C= (p.Tyr375=) c.588C= (p.Tyr196=) c.867C= (p.Tyr289=) c.-4294966381C= c.-4294966102C= c.789C= (p.Tyr263=) | |
2 | g.232534053C>G | CA351005174 | CHRND | c.1170C>G (p.Tyr390Ter) c.*352C>G (n.*352C>G) c.*811C>G (n.*811C>G) c.1125C>G (p.Tyr375Ter) c.588C>G (p.Tyr196Ter) c.867C>G (p.Tyr289Ter) c.-4294966381C>G c.-4294966102C>G c.789C>G (p.Tyr263Ter) | |
2 | g.232534053C>T | CA431952540 | CHRND | c.1170C>T (p.Tyr390=) c.*352C>T (n.*352C>T) c.*811C>T (n.*811C>T) c.1125C>T (p.Tyr375=) c.588C>T (p.Tyr196=) c.867C>T (p.Tyr289=) c.-4294966381C>T c.-4294966102C>T c.789C>T (p.Tyr263=) | |
2 | g.232534054T>A | CA351005175 | CHRND | c.1171T>A (p.Phe391Ile) c.*353T>A (n.*353T>A) c.*812T>A (n.*812T>A) c.1126T>A (p.Phe376Ile) c.589T>A (p.Phe197Ile) c.868T>A (p.Phe290Ile) c.-4294966380T>A c.-4294966101T>A c.790T>A (p.Phe264Ile) | gnomAD v4 |
2 | g.232534054T>C | CA351005177 | CHRND | c.1171T>C (p.Phe391Leu) c.*353T>C (n.*353T>C) c.*812T>C (n.*812T>C) c.1126T>C (p.Phe376Leu) c.589T>C (p.Phe197Leu) c.868T>C (p.Phe290Leu) c.-4294966380T>C c.-4294966101T>C c.790T>C (p.Phe264Leu) | |
2 | g.232534054T>G | CA351005176 | CHRND | c.1171T>G (p.Phe391Val) c.*353T>G (n.*353T>G) c.*812T>G (n.*812T>G) c.1126T>G (p.Phe376Val) c.589T>G (p.Phe197Val) c.868T>G (p.Phe290Val) c.-4294966380T>G c.-4294966101T>G c.790T>G (p.Phe264Val) | |
2 | g.232534055T>A | CA351005178 | CHRND | c.1172T>A (p.Phe391Tyr) c.*354T>A (n.*354T>A) c.*813T>A (n.*813T>A) c.1127T>A (p.Phe376Tyr) c.590T>A (p.Phe197Tyr) c.869T>A (p.Phe290Tyr) c.-4294966379T>A c.-4294966100T>A c.791T>A (p.Phe264Tyr) | |
2 | g.232534055T>C | CA351005179 | CHRND | c.1172T>C (p.Phe391Ser) c.*354T>C (n.*354T>C) c.*813T>C (n.*813T>C) c.1127T>C (p.Phe376Ser) c.590T>C (p.Phe197Ser) c.869T>C (p.Phe290Ser) c.-4294966379T>C c.-4294966100T>C c.791T>C (p.Phe264Ser) | |
2 | g.232534055T>G | CA351005180 | CHRND | c.1172T>G (p.Phe391Cys) c.*354T>G (n.*354T>G) c.*813T>G (n.*813T>G) c.1127T>G (p.Phe376Cys) c.590T>G (p.Phe197Cys) c.869T>G (p.Phe290Cys) c.-4294966379T>G c.-4294966100T>G c.791T>G (p.Phe264Cys) | |
2 | g.232534056C>A | CA351005181 | CHRND | c.1173C>A (p.Phe391Leu) c.*355C>A (n.*355C>A) c.*814C>A (n.*814C>A) c.1128C>A (p.Phe376Leu) c.591C>A (p.Phe197Leu) c.870C>A (p.Phe290Leu) c.-4294966378C>A c.-4294966099C>A c.792C>A (p.Phe264Leu) | |
2 | g.232534056C>G | CA351005182 | CHRND | c.1173C>G (p.Phe391Leu) c.*355C>G (n.*355C>G) c.*814C>G (n.*814C>G) c.1128C>G (p.Phe376Leu) c.591C>G (p.Phe197Leu) c.870C>G (p.Phe290Leu) c.-4294966378C>G c.-4294966099C>G c.792C>G (p.Phe264Leu) | |
2 | g.232534056C>T | CA431952541 | CHRND | c.1173C>T (p.Phe391=) c.*355C>T (n.*355C>T) c.*814C>T (n.*814C>T) c.1128C>T (p.Phe376=) c.591C>T (p.Phe197=) c.870C>T (p.Phe290=) c.-4294966378C>T c.-4294966099C>T c.792C>T (p.Phe264=) | |
2 | g.232534057C>A | CA351005183 | CHRND | c.1174C>A (p.Leu392Met) c.*356C>A (n.*356C>A) c.*815C>A (n.*815C>A) c.1129C>A (p.Leu377Met) c.592C>A (p.Leu198Met) c.871C>A (p.Leu291Met) c.-4294966377C>A c.-4294966098C>A c.793C>A (p.Leu265Met) | |
2 | g.232534057C>G | CA351005184 | CHRND | c.1174C>G (p.Leu392Val) c.*356C>G (n.*356C>G) c.*815C>G (n.*815C>G) c.1129C>G (p.Leu377Val) c.592C>G (p.Leu198Val) c.871C>G (p.Leu291Val) c.-4294966377C>G c.-4294966098C>G c.793C>G (p.Leu265Val) | |
2 | g.232534057C>T | CA431952542 | CHRND | c.1174C>T (p.Leu392=) c.*356C>T (n.*356C>T) c.*815C>T (n.*815C>T) c.1129C>T (p.Leu377=) c.592C>T (p.Leu198=) c.871C>T (p.Leu291=) c.-4294966377C>T c.-4294966098C>T c.793C>T (p.Leu265=) | |
2 | g.232534058T>A | CA351005185 | CHRND | c.1175T>A (p.Leu392Gln) c.*357T>A (n.*357T>A) c.*816T>A (n.*816T>A) c.1130T>A (p.Leu377Gln) c.593T>A (p.Leu198Gln) c.872T>A (p.Leu291Gln) c.-4294966376T>A c.-4294966097T>A c.794T>A (p.Leu265Gln) | |
2 | g.232534058T>C | CA351005186 | CHRND | c.1175T>C (p.Leu392Pro) c.*357T>C (n.*357T>C) c.*816T>C (n.*816T>C) c.1130T>C (p.Leu377Pro) c.593T>C (p.Leu198Pro) c.872T>C (p.Leu291Pro) c.-4294966376T>C c.-4294966097T>C c.794T>C (p.Leu265Pro) | |
2 | g.232534058T>G | CA351005187 | CHRND | c.1175T>G (p.Leu392Arg) c.*357T>G (n.*357T>G) c.*816T>G (n.*816T>G) c.1130T>G (p.Leu377Arg) c.593T>G (p.Leu198Arg) c.872T>G (p.Leu291Arg) c.-4294966376T>G c.-4294966097T>G c.794T>G (p.Leu265Arg) | |
2 | g.232534059G>A | CA431952543 | CHRND | c.1176G>A (p.Leu392=) c.*358G>A (n.*358G>A) c.*817G>A (n.*817G>A) c.1131G>A (p.Leu377=) c.594G>A (p.Leu198=) c.873G>A (p.Leu291=) c.-4294966375G>A c.-4294966096G>A c.795G>A (p.Leu265=) | dbSNP |
2 | g.232534059G>C | CA431952544 | CHRND | c.1176G>C (p.Leu392=) c.*358G>C (n.*358G>C) c.*817G>C (n.*817G>C) c.1131G>C (p.Leu377=) c.594G>C (p.Leu198=) c.873G>C (p.Leu291=) c.-4294966375G>C c.-4294966096G>C c.795G>C (p.Leu265=) | |
2 | g.232534059G= | CA1335313989 | CHRND | c.1176G= (p.Leu392=) c.*358G= (n.*358G=) c.*817G= (n.*817G=) c.1131G= (p.Leu377=) c.594G= (p.Leu198=) c.873G= (p.Leu291=) c.-4294966375G= c.-4294966096G= c.795G= (p.Leu265=) | |
2 | g.232534059G>T | CA431952545 | CHRND | c.1176G>T (p.Leu392=) c.*358G>T (n.*358G>T) c.*817G>T (n.*817G>T) c.1131G>T (p.Leu377=) c.594G>T (p.Leu198=) c.873G>T (p.Leu291=) c.-4294966375G>T c.-4294966096G>T c.795G>T (p.Leu265=) | |
2 | g.232534060C>A | CA351005189 | CHRND | c.1177C>A (p.Leu393Ile) c.*359C>A (n.*359C>A) c.*818C>A (n.*818C>A) c.1132C>A (p.Leu378Ile) c.595C>A (p.Leu199Ile) c.874C>A (p.Leu292Ile) c.-4294966374C>A c.-4294966095C>A c.796C>A (p.Leu266Ile) | gnomAD v4 |
2 | g.232534060C>G | CA351005190 | CHRND | c.1177C>G (p.Leu393Val) c.*359C>G (n.*359C>G) c.*818C>G (n.*818C>G) c.1132C>G (p.Leu378Val) c.595C>G (p.Leu199Val) c.874C>G (p.Leu292Val) c.-4294966374C>G c.-4294966095C>G c.796C>G (p.Leu266Val) | |
2 | g.232534060C>T | CA351005188 | CHRND | c.1177C>T (p.Leu393Phe) c.*359C>T (n.*359C>T) c.*818C>T (n.*818C>T) c.1132C>T (p.Leu378Phe) c.595C>T (p.Leu199Phe) c.874C>T (p.Leu292Phe) c.-4294966374C>T c.-4294966095C>T c.796C>T (p.Leu266Phe) | gnomAD v4 |
2 | g.232534061T>A | CA351005191 | CHRND | c.1178T>A (p.Leu393His) c.*360T>A (n.*360T>A) c.*819T>A (n.*819T>A) c.1133T>A (p.Leu378His) c.596T>A (p.Leu199His) c.875T>A (p.Leu292His) c.-4294966373T>A c.-4294966094T>A c.797T>A (p.Leu266His) | |
2 | g.232534061T>C | CA351005192 | CHRND | c.1178T>C (p.Leu393Pro) c.*360T>C (n.*360T>C) c.*819T>C (n.*819T>C) c.1133T>C (p.Leu378Pro) c.596T>C (p.Leu199Pro) c.875T>C (p.Leu292Pro) c.-4294966373T>C c.-4294966094T>C c.797T>C (p.Leu266Pro) | |
2 | g.232534061T>G | CA351005193 | CHRND | c.1178T>G (p.Leu393Arg) c.*360T>G (n.*360T>G) c.*819T>G (n.*819T>G) c.1133T>G (p.Leu378Arg) c.596T>G (p.Leu199Arg) c.875T>G (p.Leu292Arg) c.-4294966373T>G c.-4294966094T>G c.797T>G (p.Leu266Arg) | |
2 | g.232534062C>A | CA431952546 | CHRND | c.1179C>A (p.Leu393=) c.*361C>A (n.*361C>A) c.*820C>A (n.*820C>A) c.1134C>A (p.Leu378=) c.597C>A (p.Leu199=) c.876C>A (p.Leu292=) c.-4294966372C>A c.-4294966093C>A c.798C>A (p.Leu266=) | |
2 | g.232534062C= | CA1335313990 | CHRND | c.1179C= (p.Leu393=) c.*361C= (n.*361C=) c.*820C= (n.*820C=) c.1134C= (p.Leu378=) c.597C= (p.Leu199=) c.876C= (p.Leu292=) c.-4294966372C= c.-4294966093C= c.798C= (p.Leu266=) | |
2 | g.232534062C>G | CA431952547 | CHRND | c.1179C>G (p.Leu393=) c.*361C>G (n.*361C>G) c.*820C>G (n.*820C>G) c.1134C>G (p.Leu378=) c.597C>G (p.Leu199=) c.876C>G (p.Leu292=) c.-4294966372C>G c.-4294966093C>G c.798C>G (p.Leu266=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232534062C>T | CA431952548 | CHRND | c.1179C>T (p.Leu393=) c.*361C>T (n.*361C>T) c.*820C>T (n.*820C>T) c.1134C>T (p.Leu378=) c.597C>T (p.Leu199=) c.876C>T (p.Leu292=) c.-4294966372C>T c.-4294966093C>T c.798C>T (p.Leu266=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534063A>C | CA351005194 | CHRND | c.1180A>C (p.Lys394Gln) c.*362A>C (n.*362A>C) c.*821A>C (n.*821A>C) c.1135A>C (p.Lys379Gln) c.598A>C (p.Lys200Gln) c.877A>C (p.Lys293Gln) c.-4294966371A>C c.-4294966092A>C c.799A>C (p.Lys267Gln) | |
2 | g.232534063A>G | CA351005195 | CHRND | c.1180A>G (p.Lys394Glu) c.*362A>G (n.*362A>G) c.*821A>G (n.*821A>G) c.1135A>G (p.Lys379Glu) c.598A>G (p.Lys200Glu) c.877A>G (p.Lys293Glu) c.-4294966371A>G c.-4294966092A>G c.799A>G (p.Lys267Glu) | |
2 | g.232534063A>T | CA351005196 | CHRND | c.1180A>T (p.Lys394Ter) c.*362A>T (n.*362A>T) c.*821A>T (n.*821A>T) c.1135A>T (p.Lys379Ter) c.598A>T (p.Lys200Ter) c.877A>T (p.Lys293Ter) c.-4294966371A>T c.-4294966092A>T c.799A>T (p.Lys267Ter) | |
2 | g.232534064A= | CA1335313991 | CHRND | c.1181A= (p.Lys394=) c.*363A= (n.*363A=) c.*822A= (n.*822A=) c.1136A= (p.Lys379=) c.599A= (p.Lys200=) c.878A= (p.Lys293=) c.-4294966370A= c.-4294966091A= c.800A= (p.Lys267=) | |
2 | g.232534064A>C | CA351005199 | CHRND | c.1181A>C (p.Lys394Thr) c.*363A>C (n.*363A>C) c.*822A>C (n.*822A>C) c.1136A>C (p.Lys379Thr) c.599A>C (p.Lys200Thr) c.878A>C (p.Lys293Thr) c.-4294966370A>C c.-4294966091A>C c.800A>C (p.Lys267Thr) | ClinVar dbSNP |
2 | g.232534064A>G | CA351005197 | CHRND | c.1181A>G (p.Lys394Arg) c.*363A>G (n.*363A>G) c.*822A>G (n.*822A>G) c.1136A>G (p.Lys379Arg) c.599A>G (p.Lys200Arg) c.878A>G (p.Lys293Arg) c.-4294966370A>G c.-4294966091A>G c.800A>G (p.Lys267Arg) | |
2 | g.232534064A>T | CA351005198 | CHRND | c.1181A>T (p.Lys394Met) c.*363A>T (n.*363A>T) c.*822A>T (n.*822A>T) c.1136A>T (p.Lys379Met) c.599A>T (p.Lys200Met) c.878A>T (p.Lys293Met) c.-4294966370A>T c.-4294966091A>T c.800A>T (p.Lys267Met) | |
2 | g.232534065G>A | CA431952549 | CHRND | c.1182G>A (p.Lys394=) c.*364G>A (n.*364G>A) c.*823G>A (n.*823G>A) c.1137G>A (p.Lys379=) c.600G>A (p.Lys200=) c.879G>A (p.Lys293=) c.-4294966369G>A c.-4294966090G>A c.801G>A (p.Lys267=) | |
2 | g.232534065G>C | CA351005200 | CHRND | c.1182G>C (p.Lys394Asn) c.*364G>C (n.*364G>C) c.*823G>C (n.*823G>C) c.1137G>C (p.Lys379Asn) c.600G>C (p.Lys200Asn) c.879G>C (p.Lys293Asn) c.-4294966369G>C c.-4294966090G>C c.801G>C (p.Lys267Asn) | |
2 | g.232534065G>T | CA351005201 | CHRND | c.1182G>T (p.Lys394Asn) c.*364G>T (n.*364G>T) c.*823G>T (n.*823G>T) c.1137G>T (p.Lys379Asn) c.600G>T (p.Lys200Asn) c.879G>T (p.Lys293Asn) c.-4294966369G>T c.-4294966090G>T c.801G>T (p.Lys267Asn) | |
2 | g.232534066T>A | CA351005202 | CHRND | c.1183T>A (p.Ser395Thr) c.*365T>A (n.*365T>A) c.*824T>A (n.*824T>A) c.1138T>A (p.Ser380Thr) c.601T>A (p.Ser201Thr) c.880T>A (p.Ser294Thr) c.-4294966368T>A c.-4294966089T>A c.802T>A (p.Ser268Thr) | |
2 | g.232534066T>C | CA351005203 | CHRND | c.1183T>C (p.Ser395Pro) c.*365T>C (n.*365T>C) c.*824T>C (n.*824T>C) c.1138T>C (p.Ser380Pro) c.601T>C (p.Ser201Pro) c.880T>C (p.Ser294Pro) c.-4294966368T>C c.-4294966089T>C c.802T>C (p.Ser268Pro) | |
2 | g.232534066T>G | CA351005204 | CHRND | c.1183T>G (p.Ser395Ala) c.*365T>G (n.*365T>G) c.*824T>G (n.*824T>G) c.1138T>G (p.Ser380Ala) c.601T>G (p.Ser201Ala) c.880T>G (p.Ser294Ala) c.-4294966368T>G c.-4294966089T>G c.802T>G (p.Ser268Ala) | |
2 | g.232534067C>A | CA351005205 | CHRND | c.1184C>A (p.Ser395Tyr) c.*366C>A (n.*366C>A) c.*825C>A (n.*825C>A) c.1139C>A (p.Ser380Tyr) c.602C>A (p.Ser201Tyr) c.881C>A (p.Ser294Tyr) c.-4294966367C>A c.-4294966088C>A c.803C>A (p.Ser268Tyr) | |
2 | g.232534067C= | CA1335313992 | CHRND | c.1184C= (p.Ser395=) c.*366C= (n.*366C=) c.*825C= (n.*825C=) c.1139C= (p.Ser380=) c.602C= (p.Ser201=) c.881C= (p.Ser294=) c.-4294966367C= c.-4294966088C= c.803C= (p.Ser268=) | |
2 | g.232534067C>G | CA351005206 | CHRND | c.1184C>G (p.Ser395Cys) c.*366C>G (n.*366C>G) c.*825C>G (n.*825C>G) c.1139C>G (p.Ser380Cys) c.602C>G (p.Ser201Cys) c.881C>G (p.Ser294Cys) c.-4294966367C>G c.-4294966088C>G c.803C>G (p.Ser268Cys) | |
2 | g.232534067C>T | CA66957485 | CHRND | c.1184C>T (p.Ser395Phe) c.*366C>T (n.*366C>T) c.*825C>T (n.*825C>T) c.1139C>T (p.Ser380Phe) c.602C>T (p.Ser201Phe) c.881C>T (p.Ser294Phe) c.-4294966367C>T c.-4294966088C>T c.803C>T (p.Ser268Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232534068C>A | CA431952550 | CHRND | c.1185C>A (p.Ser395=) c.*367C>A (n.*367C>A) c.*826C>A (n.*826C>A) c.1140C>A (p.Ser380=) c.603C>A (p.Ser201=) c.882C>A (p.Ser294=) c.-4294966366C>A c.-4294966087C>A c.804C>A (p.Ser268=) | |
2 | g.232534068C>G | CA431952551 | CHRND | c.1185C>G (p.Ser395=) c.*367C>G (n.*367C>G) c.*826C>G (n.*826C>G) c.1140C>G (p.Ser380=) c.603C>G (p.Ser201=) c.882C>G (p.Ser294=) c.-4294966366C>G c.-4294966087C>G c.804C>G (p.Ser268=) | |
2 | g.232534068C>T | CA431952552 | CHRND | c.1185C>T (p.Ser395=) c.*367C>T (n.*367C>T) c.*826C>T (n.*826C>T) c.1140C>T (p.Ser380=) c.603C>T (p.Ser201=) c.882C>T (p.Ser294=) c.-4294966366C>T c.-4294966087C>T c.804C>T (p.Ser268=) | |
2 | g.232534069C>A | CA351005207 | CHRND | c.1186C>A (p.Arg396Ser) c.*368C>A (n.*368C>A) c.*827C>A (n.*827C>A) c.1141C>A (p.Arg381Ser) c.604C>A (p.Arg202Ser) c.883C>A (p.Arg295Ser) c.-4294966365C>A c.-4294966086C>A c.805C>A (p.Arg269Ser) | |
2 | g.232534069C= | CA1335313993 | CHRND | c.1186C= (p.Arg396=) c.*368C= (n.*368C=) c.*827C= (n.*827C=) c.1141C= (p.Arg381=) c.604C= (p.Arg202=) c.883C= (p.Arg295=) c.-4294966365C= c.-4294966086C= c.805C= (p.Arg269=) | |
2 | g.232534069C>G | CA351005208 | CHRND | c.1186C>G (p.Arg396Gly) c.*368C>G (n.*368C>G) c.*827C>G (n.*827C>G) c.1141C>G (p.Arg381Gly) c.604C>G (p.Arg202Gly) c.883C>G (p.Arg295Gly) c.-4294966365C>G c.-4294966086C>G c.805C>G (p.Arg269Gly) | |
2 | g.232534069C>T | CA351005209 | CHRND | c.1186C>T (p.Arg396Cys) c.*368C>T (n.*368C>T) c.*827C>T (n.*827C>T) c.1141C>T (p.Arg381Cys) c.604C>T (p.Arg202Cys) c.883C>T (p.Arg295Cys) c.-4294966365C>T c.-4294966086C>T c.805C>T (p.Arg269Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534070G>A | CA2168282 | CHRND | c.1187G>A (p.Arg396His) c.*369G>A (n.*369G>A) c.*828G>A (n.*828G>A) c.1142G>A (p.Arg381His) c.605G>A (p.Arg202His) c.884G>A (p.Arg295His) c.-4294966364G>A c.-4294966085G>A c.806G>A (p.Arg269His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534070G>C | CA351005210 | CHRND | c.1187G>C (p.Arg396Pro) c.*369G>C (n.*369G>C) c.*828G>C (n.*828G>C) c.1142G>C (p.Arg381Pro) c.605G>C (p.Arg202Pro) c.884G>C (p.Arg295Pro) c.-4294966364G>C c.-4294966085G>C c.806G>C (p.Arg269Pro) | gnomAD v4 |
2 | g.232534070G= | CA1335313994 | CHRND | c.1187G= (p.Arg396=) c.*369G= (n.*369G=) c.*828G= (n.*828G=) c.1142G= (p.Arg381=) c.605G= (p.Arg202=) c.884G= (p.Arg295=) c.-4294966364G= c.-4294966085G= c.806G= (p.Arg269=) | |
2 | g.232534070G>T | CA2168283 | CHRND | c.1187G>T (p.Arg396Leu) c.*369G>T (n.*369G>T) c.*828G>T (n.*828G>T) c.1142G>T (p.Arg381Leu) c.605G>T (p.Arg202Leu) c.884G>T (p.Arg295Leu) c.-4294966364G>T c.-4294966085G>T c.806G>T (p.Arg269Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534071C>A | CA431952553 | CHRND | c.1188C>A (p.Arg396=) c.*370C>A (n.*370C>A) c.*829C>A (n.*829C>A) c.1143C>A (p.Arg381=) c.606C>A (p.Arg202=) c.885C>A (p.Arg295=) c.-4294966363C>A c.-4294966084C>A c.807C>A (p.Arg269=) | |
2 | g.232534071C>G | CA431952554 | CHRND | c.1188C>G (p.Arg396=) c.*370C>G (n.*370C>G) c.*829C>G (n.*829C>G) c.1143C>G (p.Arg381=) c.606C>G (p.Arg202=) c.885C>G (p.Arg295=) c.-4294966363C>G c.-4294966084C>G c.807C>G (p.Arg269=) | |
2 | g.232534071C>T | CA431952555 | CHRND | c.1188C>T (p.Arg396=) c.*370C>T (n.*370C>T) c.*829C>T (n.*829C>T) c.1143C>T (p.Arg381=) c.606C>T (p.Arg202=) c.885C>T (p.Arg295=) c.-4294966363C>T c.-4294966084C>T c.807C>T (p.Arg269=) | |
2 | g.232534072A>C | CA351005211 | CHRND | c.1189A>C (p.Ser397Arg) c.*371A>C (n.*371A>C) c.*830A>C (n.*830A>C) c.1144A>C (p.Ser382Arg) c.607A>C (p.Ser203Arg) c.886A>C (p.Ser296Arg) c.-4294966362A>C c.-4294966083A>C c.808A>C (p.Ser270Arg) | |
2 | g.232534072A>G | CA351005212 | CHRND | c.1189A>G (p.Ser397Gly) c.*371A>G (n.*371A>G) c.*830A>G (n.*830A>G) c.1144A>G (p.Ser382Gly) c.607A>G (p.Ser203Gly) c.886A>G (p.Ser296Gly) c.-4294966362A>G c.-4294966083A>G c.808A>G (p.Ser270Gly) | gnomAD v4 |
2 | g.232534072A>T | CA351005213 | CHRND | c.1189A>T (p.Ser397Cys) c.*371A>T (n.*371A>T) c.*830A>T (n.*830A>T) c.1144A>T (p.Ser382Cys) c.607A>T (p.Ser203Cys) c.886A>T (p.Ser296Cys) c.-4294966362A>T c.-4294966083A>T c.808A>T (p.Ser270Cys) | |
2 | g.232534073G>A | CA351005214 | CHRND | c.1190G>A (p.Ser397Asn) c.*372G>A (n.*372G>A) c.*831G>A (n.*831G>A) c.1145G>A (p.Ser382Asn) c.608G>A (p.Ser203Asn) c.887G>A (p.Ser296Asn) c.-4294966361G>A c.-4294966082G>A c.809G>A (p.Ser270Asn) | COSMIC |
2 | g.232534073G>C | CA351005215 | CHRND | c.1190G>C (p.Ser397Thr) c.*372G>C (n.*372G>C) c.*831G>C (n.*831G>C) c.1145G>C (p.Ser382Thr) c.608G>C (p.Ser203Thr) c.887G>C (p.Ser296Thr) c.-4294966361G>C c.-4294966082G>C c.809G>C (p.Ser270Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232534073G= | CA1335313995 | CHRND | c.1190G= (p.Ser397=) c.*372G= (n.*372G=) c.*831G= (n.*831G=) c.1145G= (p.Ser382=) c.608G= (p.Ser203=) c.887G= (p.Ser296=) c.-4294966361G= c.-4294966082G= c.809G= (p.Ser270=) | |
2 | g.232534073G>T | CA351005216 | CHRND | c.1190G>T (p.Ser397Ile) c.*372G>T (n.*372G>T) c.*831G>T (n.*831G>T) c.1145G>T (p.Ser382Ile) c.608G>T (p.Ser203Ile) c.887G>T (p.Ser296Ile) c.-4294966361G>T c.-4294966082G>T c.809G>T (p.Ser270Ile) | |
2 | g.232534074T>A | CA351005217 | CHRND | c.1191T>A (p.Ser397Arg) c.*373T>A (n.*373T>A) c.*832T>A (n.*832T>A) c.1146T>A (p.Ser382Arg) c.609T>A (p.Ser203Arg) c.888T>A (p.Ser296Arg) c.-4294966360T>A c.-4294966081T>A c.810T>A (p.Ser270Arg) | |
2 | g.232534074T>C | CA431952556 | CHRND | c.1191T>C (p.Ser397=) c.*373T>C (n.*373T>C) c.*832T>C (n.*832T>C) c.1146T>C (p.Ser382=) c.609T>C (p.Ser203=) c.888T>C (p.Ser296=) c.-4294966360T>C c.-4294966081T>C c.810T>C (p.Ser270=) | |
2 | g.232534074T>G | CA351005218 | CHRND | c.1191T>G (p.Ser397Arg) c.*373T>G (n.*373T>G) c.*832T>G (n.*832T>G) c.1146T>G (p.Ser382Arg) c.609T>G (p.Ser203Arg) c.888T>G (p.Ser296Arg) c.-4294966360T>G c.-4294966081T>G c.810T>G (p.Ser270Arg) | |
2 | g.232534075G>A | CA351005219 | CHRND | c.1192G>A (p.Asp398Asn) c.*374G>A (n.*374G>A) c.*833G>A (n.*833G>A) c.1147G>A (p.Asp383Asn) c.610G>A (p.Asp204Asn) c.889G>A (p.Asp297Asn) c.-4294966359G>A c.-4294966080G>A c.811G>A (p.Asp271Asn) | gnomAD v4 |
2 | g.232534075G>C | CA351005220 | CHRND | c.1192G>C (p.Asp398His) c.*374G>C (n.*374G>C) c.*833G>C (n.*833G>C) c.1147G>C (p.Asp383His) c.610G>C (p.Asp204His) c.889G>C (p.Asp297His) c.-4294966359G>C c.-4294966080G>C c.811G>C (p.Asp271His) | |
2 | g.232534075G>T | CA351005221 | CHRND | c.1192G>T (p.Asp398Tyr) c.*374G>T (n.*374G>T) c.*833G>T (n.*833G>T) c.1147G>T (p.Asp383Tyr) c.610G>T (p.Asp204Tyr) c.889G>T (p.Asp297Tyr) c.-4294966359G>T c.-4294966080G>T c.811G>T (p.Asp271Tyr) | |
2 | g.232534076A>C | CA351005222 | CHRND | c.1193A>C (p.Asp398Ala) c.*375A>C (n.*375A>C) c.*834A>C (n.*834A>C) c.1148A>C (p.Asp383Ala) c.611A>C (p.Asp204Ala) c.890A>C (p.Asp297Ala) c.-4294966358A>C c.-4294966079A>C c.812A>C (p.Asp271Ala) | gnomAD v4 |
2 | g.232534076A>G | CA351005223 | CHRND | c.1193A>G (p.Asp398Gly) c.*375A>G (n.*375A>G) c.*834A>G (n.*834A>G) c.1148A>G (p.Asp383Gly) c.611A>G (p.Asp204Gly) c.890A>G (p.Asp297Gly) c.-4294966358A>G c.-4294966079A>G c.812A>G (p.Asp271Gly) | |
2 | g.232534076A>T | CA351005224 | CHRND | c.1193A>T (p.Asp398Val) c.*375A>T (n.*375A>T) c.*834A>T (n.*834A>T) c.1148A>T (p.Asp383Val) c.611A>T (p.Asp204Val) c.890A>T (p.Asp297Val) c.-4294966358A>T c.-4294966079A>T c.812A>T (p.Asp271Val) | |
2 | g.232534077C>A | CA351005226 | CHRND | c.1194C>A (p.Asp398Glu) c.*376C>A (n.*376C>A) c.*835C>A (n.*835C>A) c.1149C>A (p.Asp383Glu) c.612C>A (p.Asp204Glu) c.891C>A (p.Asp297Glu) c.-4294966357C>A c.-4294966078C>A c.813C>A (p.Asp271Glu) | dbSNP COSMIC |
2 | g.232534077C= | CA1335313996 | CHRND | c.1194C= (p.Asp398=) c.*376C= (n.*376C=) c.*835C= (n.*835C=) c.1149C= (p.Asp383=) c.612C= (p.Asp204=) c.891C= (p.Asp297=) c.-4294966357C= c.-4294966078C= c.813C= (p.Asp271=) | |
2 | g.232534077C>G | CA351005225 | CHRND | c.1194C>G (p.Asp398Glu) c.*376C>G (n.*376C>G) c.*835C>G (n.*835C>G) c.1149C>G (p.Asp383Glu) c.612C>G (p.Asp204Glu) c.891C>G (p.Asp297Glu) c.-4294966357C>G c.-4294966078C>G c.813C>G (p.Asp271Glu) | gnomAD v4 |
2 | g.232534077C>T | CA2168284 | CHRND | c.1194C>T (p.Asp398=) c.*376C>T (n.*376C>T) c.*835C>T (n.*835C>T) c.1149C>T (p.Asp383=) c.612C>T (p.Asp204=) c.891C>T (p.Asp297=) c.-4294966357C>T c.-4294966078C>T c.813C>T (p.Asp271=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232534078C>A | CA351005227 | CHRND | c.1195C>A (p.Leu399Ile) c.*377C>A (n.*377C>A) c.*836C>A (n.*836C>A) c.1150C>A (p.Leu384Ile) c.613C>A (p.Leu205Ile) c.892C>A (p.Leu298Ile) c.-4294966356C>A c.-4294966077C>A c.814C>A (p.Leu272Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232534078C= | CA1335313997 | CHRND | c.1195C= (p.Leu399=) c.*377C= (n.*377C=) c.*836C= (n.*836C=) c.1150C= (p.Leu384=) c.613C= (p.Leu205=) c.892C= (p.Leu298=) c.-4294966356C= c.-4294966077C= c.814C= (p.Leu272=) | |
2 | g.232534078C>G | CA351005228 | CHRND | c.1195C>G (p.Leu399Val) c.*377C>G (n.*377C>G) c.*836C>G (n.*836C>G) c.1150C>G (p.Leu384Val) c.613C>G (p.Leu205Val) c.892C>G (p.Leu298Val) c.-4294966356C>G c.-4294966077C>G c.814C>G (p.Leu272Val) | dbSNP |
2 | g.232534078C>T | CA2168285 | CHRND | c.1195C>T (p.Leu399Phe) c.*377C>T (n.*377C>T) c.*836C>T (n.*836C>T) c.1150C>T (p.Leu384Phe) c.613C>T (p.Leu205Phe) c.892C>T (p.Leu298Phe) c.-4294966356C>T c.-4294966077C>T c.814C>T (p.Leu272Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534079T>A | CA351005229 | CHRND | c.1196T>A (p.Leu399His) c.*378T>A (n.*378T>A) c.*837T>A (n.*837T>A) c.1151T>A (p.Leu384His) c.614T>A (p.Leu205His) c.893T>A (p.Leu298His) c.-4294966355T>A c.-4294966076T>A c.815T>A (p.Leu272His) | |
2 | g.232534079T>C | CA351005230 | CHRND | c.1196T>C (p.Leu399Pro) c.*378T>C (n.*378T>C) c.*837T>C (n.*837T>C) c.1151T>C (p.Leu384Pro) c.614T>C (p.Leu205Pro) c.893T>C (p.Leu298Pro) c.-4294966355T>C c.-4294966076T>C c.815T>C (p.Leu272Pro) | gnomAD v4 |
2 | g.232534079T>G | CA351005231 | CHRND | c.1196T>G (p.Leu399Arg) c.*378T>G (n.*378T>G) c.*837T>G (n.*837T>G) c.1151T>G (p.Leu384Arg) c.614T>G (p.Leu205Arg) c.893T>G (p.Leu298Arg) c.-4294966355T>G c.-4294966076T>G c.815T>G (p.Leu272Arg) | |
2 | g.232534080C>A | CA431952557 | CHRND | c.1197C>A (p.Leu399=) c.*379C>A (n.*379C>A) c.*838C>A (n.*838C>A) c.1152C>A (p.Leu384=) c.615C>A (p.Leu205=) c.894C>A (p.Leu298=) c.-4294966354C>A c.-4294966075C>A c.816C>A (p.Leu272=) | ClinVar dbSNP |
2 | g.232534080C>G | CA431952558 | CHRND | c.1197C>G (p.Leu399=) c.*379C>G (n.*379C>G) c.*838C>G (n.*838C>G) c.1152C>G (p.Leu384=) c.615C>G (p.Leu205=) c.894C>G (p.Leu298=) c.-4294966354C>G c.-4294966075C>G c.816C>G (p.Leu272=) | |
2 | g.232534080C>T | CA431952559 | CHRND | c.1197C>T (p.Leu399=) c.*379C>T (n.*379C>T) c.*838C>T (n.*838C>T) c.1152C>T (p.Leu384=) c.615C>T (p.Leu205=) c.894C>T (p.Leu298=) c.-4294966354C>T c.-4294966075C>T c.816C>T (p.Leu272=) | |
2 | g.232534081A= | CA1335313998 | CHRND | c.1198A= (p.Met400=) c.*380A= (n.*380A=) c.*839A= (n.*839A=) c.1153A= (p.Met385=) c.616A= (p.Met206=) c.895A= (p.Met299=) c.-4294966353A= c.-4294966074A= c.817A= (p.Met273=) | |
2 | g.232534081A>C | CA351005232 | CHRND | c.1198A>C (p.Met400Leu) c.*380A>C (n.*380A>C) c.*839A>C (n.*839A>C) c.1153A>C (p.Met385Leu) c.616A>C (p.Met206Leu) c.895A>C (p.Met299Leu) c.-4294966353A>C c.-4294966074A>C c.817A>C (p.Met273Leu) | gnomAD v4 |
2 | g.232534081A>G | CA351005234 | CHRND | c.1198A>G (p.Met400Val) c.*380A>G (n.*380A>G) c.*839A>G (n.*839A>G) c.1153A>G (p.Met385Val) c.616A>G (p.Met206Val) c.895A>G (p.Met299Val) c.-4294966353A>G c.-4294966074A>G c.817A>G (p.Met273Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232534081A>T | CA351005233 | CHRND | c.1198A>T (p.Met400Leu) c.*380A>T (n.*380A>T) c.*839A>T (n.*839A>T) c.1153A>T (p.Met385Leu) c.616A>T (p.Met206Leu) c.895A>T (p.Met299Leu) c.-4294966353A>T c.-4294966074A>T c.817A>T (p.Met273Leu) | |
2 | g.232534082T>A | CA351005235 | CHRND | c.1199T>A (p.Met400Lys) c.*381T>A (n.*381T>A) c.*840T>A (n.*840T>A) c.1154T>A (p.Met385Lys) c.617T>A (p.Met206Lys) c.896T>A (p.Met299Lys) c.-4294966352T>A c.-4294966073T>A c.818T>A (p.Met273Lys) | |
2 | g.232534082T>C | CA2168286 | CHRND | c.1199T>C (p.Met400Thr) c.*381T>C (n.*381T>C) c.*840T>C (n.*840T>C) c.1154T>C (p.Met385Thr) c.617T>C (p.Met206Thr) c.896T>C (p.Met299Thr) c.-4294966352T>C c.-4294966073T>C c.818T>C (p.Met273Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232534082T>G | CA351005236 | CHRND | c.1199T>G (p.Met400Arg) c.*381T>G (n.*381T>G) c.*840T>G (n.*840T>G) c.1154T>G (p.Met385Arg) c.617T>G (p.Met206Arg) c.896T>G (p.Met299Arg) c.-4294966352T>G c.-4294966073T>G c.818T>G (p.Met273Arg) | |
2 | g.232534082T= | CA1335313999 | CHRND | c.1199T= (p.Met400=) c.*381T= (n.*381T=) c.*840T= (n.*840T=) c.1154T= (p.Met385=) c.617T= (p.Met206=) c.896T= (p.Met299=) c.-4294966352T= c.-4294966073T= c.818T= (p.Met273=) | |
2 | g.232534083G>A | CA351005237 | CHRND | c.1200G>A (p.Met400Ile) c.*382G>A (n.*382G>A) c.*841G>A (n.*841G>A) c.1155G>A (p.Met385Ile) c.618G>A (p.Met206Ile) c.897G>A (p.Met299Ile) c.-4294966351G>A c.-4294966072G>A c.819G>A (p.Met273Ile) | |
2 | g.232534083G>C | CA351005238 | CHRND | c.1200G>C (p.Met400Ile) c.*382G>C (n.*382G>C) c.*841G>C (n.*841G>C) c.1155G>C (p.Met385Ile) c.618G>C (p.Met206Ile) c.897G>C (p.Met299Ile) c.-4294966351G>C c.-4294966072G>C c.819G>C (p.Met273Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.232534083G= | CA1335314000 | CHRND | c.1200G= (p.Met400=) c.*382G= (n.*382G=) c.*841G= (n.*841G=) c.1155G= (p.Met385=) c.618G= (p.Met206=) c.897G= (p.Met299=) c.-4294966351G= c.-4294966072G= c.819G= (p.Met273=) | |
2 | g.232534083G>T | CA351005239 | CHRND | c.1200G>T (p.Met400Ile) c.*382G>T (n.*382G>T) c.*841G>T (n.*841G>T) c.1155G>T (p.Met385Ile) c.618G>T (p.Met206Ile) c.897G>T (p.Met299Ile) c.-4294966351G>T c.-4294966072G>T c.819G>T (p.Met273Ile) | |
2 | g.232534084T>A | CA351005240 | CHRND | c.1201T>A (p.Phe401Ile) c.*383T>A (n.*383T>A) c.*842T>A (n.*842T>A) c.1156T>A (p.Phe386Ile) c.619T>A (p.Phe207Ile) c.898T>A (p.Phe300Ile) c.-4294966350T>A c.-4294966071T>A c.820T>A (p.Phe274Ile) | |
2 | g.232534084T>C | CA351005241 | CHRND | c.1201T>C (p.Phe401Leu) c.*383T>C (n.*383T>C) c.*842T>C (n.*842T>C) c.1156T>C (p.Phe386Leu) c.619T>C (p.Phe207Leu) c.898T>C (p.Phe300Leu) c.-4294966350T>C c.-4294966071T>C c.820T>C (p.Phe274Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232534084T>G | CA351005242 | CHRND | c.1201T>G (p.Phe401Val) c.*383T>G (n.*383T>G) c.*842T>G (n.*842T>G) c.1156T>G (p.Phe386Val) c.619T>G (p.Phe207Val) c.898T>G (p.Phe300Val) c.-4294966350T>G c.-4294966071T>G c.820T>G (p.Phe274Val) | |
2 | g.232534084T= | CA1335314001 | CHRND | c.1201T= (p.Phe401=) c.*383T= (n.*383T=) c.*842T= (n.*842T=) c.1156T= (p.Phe386=) c.619T= (p.Phe207=) c.898T= (p.Phe300=) c.-4294966350T= c.-4294966071T= c.820T= (p.Phe274=) | |
2 | g.232534085T>A | CA351005243 | CHRND | c.1202T>A (p.Phe401Tyr) c.*384T>A (n.*384T>A) c.*843T>A (n.*843T>A) c.1157T>A (p.Phe386Tyr) c.620T>A (p.Phe207Tyr) c.899T>A (p.Phe300Tyr) c.-4294966349T>A c.-4294966070T>A c.821T>A (p.Phe274Tyr) | |
2 | g.232534085T>C | CA351005244 | CHRND | c.1202T>C (p.Phe401Ser) c.*384T>C (n.*384T>C) c.*843T>C (n.*843T>C) c.1157T>C (p.Phe386Ser) c.620T>C (p.Phe207Ser) c.899T>C (p.Phe300Ser) c.-4294966349T>C c.-4294966070T>C c.821T>C (p.Phe274Ser) | |
2 | g.232534085T>G | CA351005245 | CHRND | c.1202T>G (p.Phe401Cys) c.*384T>G (n.*384T>G) c.*843T>G (n.*843T>G) c.1157T>G (p.Phe386Cys) c.620T>G (p.Phe207Cys) c.899T>G (p.Phe300Cys) c.-4294966349T>G c.-4294966070T>G c.821T>G (p.Phe274Cys) | |
2 | g.232534086C>A | CA351005246 | CHRND | c.1203C>A (p.Phe401Leu) c.*385C>A (n.*385C>A) c.*844C>A (n.*844C>A) c.1158C>A (p.Phe386Leu) c.621C>A (p.Phe207Leu) c.900C>A (p.Phe300Leu) c.-4294966348C>A c.-4294966069C>A c.822C>A (p.Phe274Leu) | dbSNP gnomAD v4 |
2 | g.232534086C= | CA1335314002 | CHRND | c.1203C= (p.Phe401=) c.*385C= (n.*385C=) c.*844C= (n.*844C=) c.1158C= (p.Phe386=) c.621C= (p.Phe207=) c.900C= (p.Phe300=) c.-4294966348C= c.-4294966069C= c.822C= (p.Phe274=) | |
2 | g.232534086C>G | CA2168287 | CHRND | c.1203C>G (p.Phe401Leu) c.*385C>G (n.*385C>G) c.*844C>G (n.*844C>G) c.1158C>G (p.Phe386Leu) c.621C>G (p.Phe207Leu) c.900C>G (p.Phe300Leu) c.-4294966348C>G c.-4294966069C>G c.822C>G (p.Phe274Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534086C>T | CA2168288 | CHRND | c.1203C>T (p.Phe401=) c.*385C>T (n.*385C>T) c.*844C>T (n.*844C>T) c.1158C>T (p.Phe386=) c.621C>T (p.Phe207=) c.900C>T (p.Phe300=) c.-4294966348C>T c.-4294966069C>T c.822C>T (p.Phe274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534087G>A | CA2168289 | CHRND | c.1204G>A (p.Glu402Lys) c.*386G>A (n.*386G>A) c.*845G>A (n.*845G>A) c.1159G>A (p.Glu387Lys) c.622G>A (p.Glu208Lys) c.901G>A (p.Glu301Lys) c.-4294966347G>A c.-4294966068G>A c.823G>A (p.Glu275Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534087G>C | CA2168290 | CHRND | c.1204G>C (p.Glu402Gln) c.*386G>C (n.*386G>C) c.*845G>C (n.*845G>C) c.1159G>C (p.Glu387Gln) c.622G>C (p.Glu208Gln) c.901G>C (p.Glu301Gln) c.-4294966347G>C c.-4294966068G>C c.823G>C (p.Glu275Gln) | dbSNP ExAC gnomAD v2 |
2 | g.232534087G= | CA1335314003 | CHRND | c.1204G= (p.Glu402=) c.*386G= (n.*386G=) c.*845G= (n.*845G=) c.1159G= (p.Glu387=) c.622G= (p.Glu208=) c.901G= (p.Glu301=) c.-4294966347G= c.-4294966068G= c.823G= (p.Glu275=) | |
2 | g.232534087G>T | CA351005247 | CHRND | c.1204G>T (p.Glu402Ter) c.*386G>T (n.*386G>T) c.*845G>T (n.*845G>T) c.1159G>T (p.Glu387Ter) c.622G>T (p.Glu208Ter) c.901G>T (p.Glu301Ter) c.-4294966347G>T c.-4294966068G>T c.823G>T (p.Glu275Ter) | |
2 | g.232534088A>C | CA351005248 | CHRND | c.1205A>C (p.Glu402Ala) c.*387A>C (n.*387A>C) c.*846A>C (n.*846A>C) c.1160A>C (p.Glu387Ala) c.623A>C (p.Glu208Ala) c.902A>C (p.Glu301Ala) c.-4294966346A>C c.-4294966067A>C c.824A>C (p.Glu275Ala) | |
2 | g.232534088A>G | CA351005249 | CHRND | c.1205A>G (p.Glu402Gly) c.*387A>G (n.*387A>G) c.*846A>G (n.*846A>G) c.1160A>G (p.Glu387Gly) c.623A>G (p.Glu208Gly) c.902A>G (p.Glu301Gly) c.-4294966346A>G c.-4294966067A>G c.824A>G (p.Glu275Gly) | |
2 | g.232534088A>T | CA351005250 | CHRND | c.1205A>T (p.Glu402Val) c.*387A>T (n.*387A>T) c.*846A>T (n.*846A>T) c.1160A>T (p.Glu387Val) c.623A>T (p.Glu208Val) c.902A>T (p.Glu301Val) c.-4294966346A>T c.-4294966067A>T c.824A>T (p.Glu275Val) | |
2 | g.232534089G>A | CA431952560 | CHRND | c.1206G>A (p.Glu402=) c.*388G>A (n.*388G>A) c.*847G>A (n.*847G>A) c.1161G>A (p.Glu387=) c.624G>A (p.Glu208=) c.903G>A (p.Glu301=) c.-4294966345G>A c.-4294966066G>A c.825G>A (p.Glu275=) | |
2 | g.232534089G>C | CA351005251 | CHRND | c.1206G>C (p.Glu402Asp) c.*388G>C (n.*388G>C) c.*847G>C (n.*847G>C) c.1161G>C (p.Glu387Asp) c.624G>C (p.Glu208Asp) c.903G>C (p.Glu301Asp) c.-4294966345G>C c.-4294966066G>C c.825G>C (p.Glu275Asp) | |
2 | g.232534089G>T | CA351005252 | CHRND | c.1206G>T (p.Glu402Asp) c.*388G>T (n.*388G>T) c.*847G>T (n.*847G>T) c.1161G>T (p.Glu387Asp) c.624G>T (p.Glu208Asp) c.903G>T (p.Glu301Asp) c.-4294966345G>T c.-4294966066G>T c.825G>T (p.Glu275Asp) | |
2 | g.232534090A>C | CA351005253 | CHRND | c.1207A>C (p.Lys403Gln) c.*389A>C (n.*389A>C) c.*848A>C (n.*848A>C) c.1162A>C (p.Lys388Gln) c.625A>C (p.Lys209Gln) c.904A>C (p.Lys302Gln) c.-4294966344A>C c.-4294966065A>C c.826A>C (p.Lys276Gln) | |
2 | g.232534090A>G | CA351005254 | CHRND | c.1207A>G (p.Lys403Glu) c.*389A>G (n.*389A>G) c.*848A>G (n.*848A>G) c.1162A>G (p.Lys388Glu) c.625A>G (p.Lys209Glu) c.904A>G (p.Lys302Glu) c.-4294966344A>G c.-4294966065A>G c.826A>G (p.Lys276Glu) | |
2 | g.232534090A>T | CA351005255 | CHRND | c.1207A>T (p.Lys403Ter) c.*389A>T (n.*389A>T) c.*848A>T (n.*848A>T) c.1162A>T (p.Lys388Ter) c.625A>T (p.Lys209Ter) c.904A>T (p.Lys302Ter) c.-4294966344A>T c.-4294966065A>T c.826A>T (p.Lys276Ter) | |
2 | g.232534091A>C | CA351005258 | CHRND | c.1208A>C (p.Lys403Thr) c.*390A>C (n.*390A>C) c.*849A>C (n.*849A>C) c.1163A>C (p.Lys388Thr) c.626A>C (p.Lys209Thr) c.905A>C (p.Lys302Thr) c.-4294966343A>C c.-4294966064A>C c.827A>C (p.Lys276Thr) | |
2 | g.232534091A>G | CA351005257 | CHRND | c.1208A>G (p.Lys403Arg) c.*390A>G (n.*390A>G) c.*849A>G (n.*849A>G) c.1163A>G (p.Lys388Arg) c.626A>G (p.Lys209Arg) c.905A>G (p.Lys302Arg) c.-4294966343A>G c.-4294966064A>G c.827A>G (p.Lys276Arg) | gnomAD v4 |
2 | g.232534091A>T | CA351005256 | CHRND | c.1208A>T (p.Lys403Met) c.*390A>T (n.*390A>T) c.*849A>T (n.*849A>T) c.1163A>T (p.Lys388Met) c.626A>T (p.Lys209Met) c.905A>T (p.Lys302Met) c.-4294966343A>T c.-4294966064A>T c.827A>T (p.Lys276Met) | |
2 | g.232534092G>A | CA431952561 | CHRND | c.1209G>A (p.Lys403=) c.*391G>A (n.*391G>A) c.*850G>A (n.*850G>A) c.1164G>A (p.Lys388=) c.627G>A (p.Lys209=) c.906G>A (p.Lys302=) c.-4294966342G>A c.-4294966063G>A c.828G>A (p.Lys276=) | |
2 | g.232534092G>C | CA351005259 | CHRND | c.1209G>C (p.Lys403Asn) c.*391G>C (n.*391G>C) c.*850G>C (n.*850G>C) c.1164G>C (p.Lys388Asn) c.627G>C (p.Lys209Asn) c.906G>C (p.Lys302Asn) c.-4294966342G>C c.-4294966063G>C c.828G>C (p.Lys276Asn) | |
2 | g.232534092G= | CA1335314004 | CHRND | c.1209G= (p.Lys403=) c.*391G= (n.*391G=) c.*850G= (n.*850G=) c.1164G= (p.Lys388=) c.627G= (p.Lys209=) c.906G= (p.Lys302=) c.-4294966342G= c.-4294966063G= c.828G= (p.Lys276=) | |
2 | g.232534092G>T | CA351005260 | CHRND | c.1209G>T (p.Lys403Asn) c.*391G>T (n.*391G>T) c.*850G>T (n.*850G>T) c.1164G>T (p.Lys388Asn) c.627G>T (p.Lys209Asn) c.906G>T (p.Lys302Asn) c.-4294966342G>T c.-4294966063G>T c.828G>T (p.Lys276Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232534093C>A | CA351005261 | CHRND | c.1210C>A (p.Gln404Lys) c.*392C>A (n.*392C>A) c.*851C>A (n.*851C>A) c.1165C>A (p.Gln389Lys) c.628C>A (p.Gln210Lys) c.907C>A (p.Gln303Lys) c.-4294966341C>A c.-4294966062C>A c.829C>A (p.Gln277Lys) | gnomAD v4 |
2 | g.232534093C>G | CA351005262 | CHRND | c.1210C>G (p.Gln404Glu) c.*392C>G (n.*392C>G) c.*851C>G (n.*851C>G) c.1165C>G (p.Gln389Glu) c.628C>G (p.Gln210Glu) c.907C>G (p.Gln303Glu) c.-4294966341C>G c.-4294966062C>G c.829C>G (p.Gln277Glu) | |
2 | g.232534093C>T | CA351005263 | CHRND | c.1210C>T (p.Gln404Ter) c.*392C>T (n.*392C>T) c.*851C>T (n.*851C>T) c.1165C>T (p.Gln389Ter) c.628C>T (p.Gln210Ter) c.907C>T (p.Gln303Ter) c.-4294966341C>T c.-4294966062C>T c.829C>T (p.Gln277Ter) | |
2 | g.232534094A= | CA1335314005 | CHRND | c.1211A= (p.Gln404=) c.*393A= (n.*393A=) c.*852A= (n.*852A=) c.1166A= (p.Gln389=) c.629A= (p.Gln210=) c.908A= (p.Gln303=) c.-4294966340A= c.-4294966061A= c.830A= (p.Gln277=) | |
2 | g.232534094A>C | CA351005264 | CHRND | c.1211A>C (p.Gln404Pro) c.*393A>C (n.*393A>C) c.*852A>C (n.*852A>C) c.1166A>C (p.Gln389Pro) c.629A>C (p.Gln210Pro) c.908A>C (p.Gln303Pro) c.-4294966340A>C c.-4294966061A>C c.830A>C (p.Gln277Pro) | |
2 | g.232534094A>G | CA351005265 | CHRND | c.1211A>G (p.Gln404Arg) c.*393A>G (n.*393A>G) c.*852A>G (n.*852A>G) c.1166A>G (p.Gln389Arg) c.629A>G (p.Gln210Arg) c.908A>G (p.Gln303Arg) c.-4294966340A>G c.-4294966061A>G c.830A>G (p.Gln277Arg) | gnomAD v4 |
2 | g.232534094A>T | CA351005266 | CHRND | c.1211A>T (p.Gln404Leu) c.*393A>T (n.*393A>T) c.*852A>T (n.*852A>T) c.1166A>T (p.Gln389Leu) c.629A>T (p.Gln210Leu) c.908A>T (p.Gln303Leu) c.-4294966340A>T c.-4294966061A>T c.830A>T (p.Gln277Leu) | dbSNP gnomAD v2 |
2 | g.232534095G>A | CA431952562 | CHRND | c.1212G>A (p.Gln404=) c.*394G>A (n.*394G>A) c.*853G>A (n.*853G>A) c.1167G>A (p.Gln389=) c.630G>A (p.Gln210=) c.909G>A (p.Gln303=) c.-4294966339G>A c.-4294966060G>A c.831G>A (p.Gln277=) | |
2 | g.232534095G>C | CA351005267 | CHRND | c.1212G>C (p.Gln404His) c.*394G>C (n.*394G>C) c.*853G>C (n.*853G>C) c.1167G>C (p.Gln389His) c.630G>C (p.Gln210His) c.909G>C (p.Gln303His) c.-4294966339G>C c.-4294966060G>C c.831G>C (p.Gln277His) | |
2 | g.232534095G>T | CA351005268 | CHRND | c.1212G>T (p.Gln404His) c.*394G>T (n.*394G>T) c.*853G>T (n.*853G>T) c.1167G>T (p.Gln389His) c.630G>T (p.Gln210His) c.909G>T (p.Gln303His) c.-4294966339G>T c.-4294966060G>T c.831G>T (p.Gln277His) | |
2 | g.232534096T>A | CA351005269 | CHRND | c.1213T>A (p.Ser405Thr) c.*395T>A (n.*395T>A) c.*854T>A (n.*854T>A) c.1168T>A (p.Ser390Thr) c.631T>A (p.Ser211Thr) c.910T>A (p.Ser304Thr) c.-4294966338T>A c.-4294966059T>A c.832T>A (p.Ser278Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.232534096T>C | CA351005270 | CHRND | c.1213T>C (p.Ser405Pro) c.*395T>C (n.*395T>C) c.*854T>C (n.*854T>C) c.1168T>C (p.Ser390Pro) c.631T>C (p.Ser211Pro) c.910T>C (p.Ser304Pro) c.-4294966338T>C c.-4294966059T>C c.832T>C (p.Ser278Pro) | |
2 | g.232534096T>G | CA351005271 | CHRND | c.1213T>G (p.Ser405Ala) c.*395T>G (n.*395T>G) c.*854T>G (n.*854T>G) c.1168T>G (p.Ser390Ala) c.631T>G (p.Ser211Ala) c.910T>G (p.Ser304Ala) c.-4294966338T>G c.-4294966059T>G c.832T>G (p.Ser278Ala) | |
2 | g.232534096T= | CA1335314006 | CHRND | c.1213T= (p.Ser405=) c.*395T= (n.*395T=) c.*854T= (n.*854T=) c.1168T= (p.Ser390=) c.631T= (p.Ser211=) c.910T= (p.Ser304=) c.-4294966338T= c.-4294966059T= c.832T= (p.Ser278=) | |
2 | g.232534097C>A | CA351005273 | CHRND | c.1214C>A (p.Ser405Ter) c.*396C>A (n.*396C>A) c.*855C>A (n.*855C>A) c.1169C>A (p.Ser390Ter) c.632C>A (p.Ser211Ter) c.911C>A (p.Ser304Ter) c.-4294966337C>A c.-4294966058C>A c.833C>A (p.Ser278Ter) | |
2 | g.232534097C>G | CA351005274 | CHRND | c.1214C>G (p.Ser405Ter) c.*396C>G (n.*396C>G) c.*855C>G (n.*855C>G) c.1169C>G (p.Ser390Ter) c.632C>G (p.Ser211Ter) c.911C>G (p.Ser304Ter) c.-4294966337C>G c.-4294966058C>G c.833C>G (p.Ser278Ter) | |
2 | g.232534097C>T | CA351005272 | CHRND | c.1214C>T (p.Ser405Leu) c.*396C>T (n.*396C>T) c.*855C>T (n.*855C>T) c.1169C>T (p.Ser390Leu) c.632C>T (p.Ser211Leu) c.911C>T (p.Ser304Leu) c.-4294966337C>T c.-4294966058C>T c.833C>T (p.Ser278Leu) | |
2 | g.232534098_232534102dup | CA2663623393 | CHRND | c.1215_1219dup (p.Arg407GlnfsTer31) c.*397_*401dup (n.*397_*401dup) c.*856_*860dup (n.*856_*860dup) c.1170_1174dup (p.Arg392GlnfsTer31) c.633_637dup (p.Arg213GlnfsTer31) c.912_916dup (p.Arg306GlnfsTer31) c.-4294966336_-4294966332dup c.-4294966057_-4294966053dup c.834_838dup (p.Arg280GlnfsTer31) | gnomAD v4 |
2 | g.232534098A>C | CA431952563 | CHRND | c.1215A>C (p.Ser405=) c.*397A>C (n.*397A>C) c.*856A>C (n.*856A>C) c.1170A>C (p.Ser390=) c.633A>C (p.Ser211=) c.912A>C (p.Ser304=) c.-4294966336A>C c.-4294966057A>C c.834A>C (p.Ser278=) | |
2 | g.232534098A>G | CA431952564 | CHRND | c.1215A>G (p.Ser405=) c.*397A>G (n.*397A>G) c.*856A>G (n.*856A>G) c.1170A>G (p.Ser390=) c.633A>G (p.Ser211=) c.912A>G (p.Ser304=) c.-4294966336A>G c.-4294966057A>G c.834A>G (p.Ser278=) | |
2 | g.232534098A>T | CA431952565 | CHRND | c.1215A>T (p.Ser405=) c.*397A>T (n.*397A>T) c.*856A>T (n.*856A>T) c.1170A>T (p.Ser390=) c.633A>T (p.Ser211=) c.912A>T (p.Ser304=) c.-4294966336A>T c.-4294966057A>T c.834A>T (p.Ser278=) | |
2 | g.232534099G>A | CA66957506 | CHRND | c.1216G>A (p.Glu406Lys) c.*398G>A (n.*398G>A) c.*857G>A (n.*857G>A) c.1171G>A (p.Glu391Lys) c.634G>A (p.Glu212Lys) c.913G>A (p.Glu305Lys) c.-4294966335G>A c.-4294966056G>A c.835G>A (p.Glu279Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232534099G>C | CA351005276 | CHRND | c.1216G>C (p.Glu406Gln) c.*398G>C (n.*398G>C) c.*857G>C (n.*857G>C) c.1171G>C (p.Glu391Gln) c.634G>C (p.Glu212Gln) c.913G>C (p.Glu305Gln) c.-4294966335G>C c.-4294966056G>C c.835G>C (p.Glu279Gln) | gnomAD v4 |
2 | g.232534099G= | CA1335314007 | CHRND | c.1216G= (p.Glu406=) c.*398G= (n.*398G=) c.*857G= (n.*857G=) c.1171G= (p.Glu391=) c.634G= (p.Glu212=) c.913G= (p.Glu305=) c.-4294966335G= c.-4294966056G= c.835G= (p.Glu279=) | |
2 | g.232534099G>T | CA351005275 | CHRND | c.1216G>T (p.Glu406Ter) c.*398G>T (n.*398G>T) c.*857G>T (n.*857G>T) c.1171G>T (p.Glu391Ter) c.634G>T (p.Glu212Ter) c.913G>T (p.Glu305Ter) c.-4294966335G>T c.-4294966056G>T c.835G>T (p.Glu279Ter) | |
2 | g.232534100A>C | CA351005277 | CHRND | c.1217A>C (p.Glu406Ala) c.*399A>C (n.*399A>C) c.*858A>C (n.*858A>C) c.1172A>C (p.Glu391Ala) c.635A>C (p.Glu212Ala) c.914A>C (p.Glu305Ala) c.-4294966334A>C c.-4294966055A>C c.836A>C (p.Glu279Ala) | gnomAD v4 |
2 | g.232534100A>G | CA351005279 | CHRND | c.1217A>G (p.Glu406Gly) c.*399A>G (n.*399A>G) c.*858A>G (n.*858A>G) c.1172A>G (p.Glu391Gly) c.635A>G (p.Glu212Gly) c.914A>G (p.Glu305Gly) c.-4294966334A>G c.-4294966055A>G c.836A>G (p.Glu279Gly) | gnomAD v4 |
2 | g.232534100A>T | CA351005278 | CHRND | c.1217A>T (p.Glu406Val) c.*399A>T (n.*399A>T) c.*858A>T (n.*858A>T) c.1172A>T (p.Glu391Val) c.635A>T (p.Glu212Val) c.914A>T (p.Glu305Val) c.-4294966334A>T c.-4294966055A>T c.836A>T (p.Glu279Val) | |
2 | g.232534101G>A | CA431952566 | CHRND | c.1218G>A (p.Glu406=) c.*400G>A (n.*400G>A) c.*859G>A (n.*859G>A) c.1173G>A (p.Glu391=) c.636G>A (p.Glu212=) c.915G>A (p.Glu305=) c.-4294966333G>A c.-4294966054G>A c.837G>A (p.Glu279=) | gnomAD v4 |
2 | g.232534101G>C | CA351005280 | CHRND | c.1218G>C (p.Glu406Asp) c.*400G>C (n.*400G>C) c.*859G>C (n.*859G>C) c.1173G>C (p.Glu391Asp) c.636G>C (p.Glu212Asp) c.915G>C (p.Glu305Asp) c.-4294966333G>C c.-4294966054G>C c.837G>C (p.Glu279Asp) | |
2 | g.232534101G>T | CA351005281 | CHRND | c.1218G>T (p.Glu406Asp) c.*400G>T (n.*400G>T) c.*859G>T (n.*859G>T) c.1173G>T (p.Glu391Asp) c.636G>T (p.Glu212Asp) c.915G>T (p.Glu305Asp) c.-4294966333G>T c.-4294966054G>T c.837G>T (p.Glu279Asp) | ClinVar |
2 | g.232534102C>A | CA2168292 | CHRND | c.1219C>A (p.Arg407=) c.*401C>A (n.*401C>A) c.*860C>A (n.*860C>A) c.1174C>A (p.Arg392=) c.637C>A (p.Arg213=) c.916C>A (p.Arg306=) c.-4294966332C>A c.-4294966053C>A c.838C>A (p.Arg280=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.232534102C= | CA1335314008 | CHRND | c.1219C= (p.Arg407=) c.*401C= (n.*401C=) c.*860C= (n.*860C=) c.1174C= (p.Arg392=) c.637C= (p.Arg213=) c.916C= (p.Arg306=) c.-4294966332C= c.-4294966053C= c.838C= (p.Arg280=) | |
2 | g.232534102C>G | CA351005282 | CHRND | c.1219C>G (p.Arg407Gly) c.*401C>G (n.*401C>G) c.*860C>G (n.*860C>G) c.1174C>G (p.Arg392Gly) c.637C>G (p.Arg213Gly) c.916C>G (p.Arg306Gly) c.-4294966332C>G c.-4294966053C>G c.838C>G (p.Arg280Gly) | |
2 | g.232534102C>T | CA2168291 | CHRND | c.1219C>T (p.Arg407Trp) c.*401C>T (n.*401C>T) c.*860C>T (n.*860C>T) c.1174C>T (p.Arg392Trp) c.637C>T (p.Arg213Trp) c.916C>T (p.Arg306Trp) c.-4294966332C>T c.-4294966053C>T c.838C>T (p.Arg280Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.232534103G>A | CA2168293 | CHRND | c.1220G>A (p.Arg407Gln) c.*402G>A (n.*402G>A) c.*861G>A (n.*861G>A) c.1175G>A (p.Arg392Gln) c.638G>A (p.Arg213Gln) c.917G>A (p.Arg306Gln) c.-4294966331G>A c.-4294966052G>A c.839G>A (p.Arg280Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.232534103G>C | CA351005283 | CHRND | c.1220G>C (p.Arg407Pro) c.*402G>C (n.*402G>C) c.*861G>C (n.*861G>C) c.1175G>C (p.Arg392Pro) c.638G>C (p.Arg213Pro) c.917G>C (p.Arg306Pro) c.-4294966331G>C c.-4294966052G>C c.839G>C (p.Arg280Pro) | |
2 | g.232534103G= | CA1335314009 | CHRND | c.1220G= (p.Arg407=) c.*402G= (n.*402G=) c.*861G= (n.*861G=) c.1175G= (p.Arg392=) c.638G= (p.Arg213=) c.917G= (p.Arg306=) c.-4294966331G= c.-4294966052G= c.839G= (p.Arg280=) | |
2 | g.232534103G>T | CA351005284 | CHRND | c.1220G>T (p.Arg407Leu) c.*402G>T (n.*402G>T) c.*861G>T (n.*861G>T) c.1175G>T (p.Arg392Leu) c.638G>T (p.Arg213Leu) c.917G>T (p.Arg306Leu) c.-4294966331G>T c.-4294966052G>T c.839G>T (p.Arg280Leu) | |
2 | g.232534103_232534104dup | CA2663623405 | CHRND | c.1220_1221dup (p.His408GlyfsTer29) c.*402_*403dup (n.*402_*403dup) c.*861_*862dup (n.*861_*862dup) c.1175_1176dup (p.His393GlyfsTer29) c.638_639dup (p.His214GlyfsTer29) c.917_918dup (p.His307GlyfsTer29) c.-4294966331_-4294966330dup c.-4294966052_-4294966051dup c.839_840dup (p.His281GlyfsTer29) | gnomAD v4 |
2 | g.232534104G>A | CA431952567 | CHRND | c.1221G>A (p.Arg407=) c.*403G>A (n.*403G>A) c.*862G>A (n.*862G>A) c.1176G>A (p.Arg392=) c.639G>A (p.Arg213=) c.918G>A (p.Arg306=) c.-4294966330G>A c.-4294966051G>A c.840G>A (p.Arg280=) | |
2 | g.232534104G>C | CA431952568 | CHRND | c.1221G>C (p.Arg407=) c.*403G>C (n.*403G>C) c.*862G>C (n.*862G>C) c.1176G>C (p.Arg392=) c.639G>C (p.Arg213=) c.918G>C (p.Arg306=) c.-4294966330G>C c.-4294966051G>C c.840G>C (p.Arg280=) | |
2 | g.232534104G= | CA1335314010 | CHRND | c.1221G= (p.Arg407=) c.*403G= (n.*403G=) c.*862G= (n.*862G=) c.1176G= (p.Arg392=) c.639G= (p.Arg213=) c.918G= (p.Arg306=) c.-4294966330G= c.-4294966051G= c.840G= (p.Arg280=) | |
2 | g.232534104G>T | CA2168294 | CHRND | c.1221G>T (p.Arg407=) c.*403G>T (n.*403G>T) c.*862G>T (n.*862G>T) c.1176G>T (p.Arg392=) c.639G>T (p.Arg213=) c.918G>T (p.Arg306=) c.-4294966330G>T c.-4294966051G>T c.840G>T (p.Arg280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534105C>A | CA351005285 | CHRND | c.1222C>A (p.His408Asn) c.*404C>A (n.*404C>A) c.*863C>A (n.*863C>A) c.1177C>A (p.His393Asn) c.640C>A (p.His214Asn) c.919C>A (p.His307Asn) c.-4294966329C>A c.-4294966050C>A c.841C>A (p.His281Asn) | |
2 | g.232534105C>G | CA351005286 | CHRND | c.1222C>G (p.His408Asp) c.*404C>G (n.*404C>G) c.*863C>G (n.*863C>G) c.1177C>G (p.His393Asp) c.640C>G (p.His214Asp) c.919C>G (p.His307Asp) c.-4294966329C>G c.-4294966050C>G c.841C>G (p.His281Asp) | |
2 | g.232534105C>T | CA351005287 | CHRND | c.1222C>T (p.His408Tyr) c.*404C>T (n.*404C>T) c.*863C>T (n.*863C>T) c.1177C>T (p.His393Tyr) c.640C>T (p.His214Tyr) c.919C>T (p.His307Tyr) c.-4294966329C>T c.-4294966050C>T c.841C>T (p.His281Tyr) | |
2 | g.232534106A= | CA1335314011 | CHRND | c.1223A= (p.His408=) c.*405A= (n.*405A=) c.*864A= (n.*864A=) c.1178A= (p.His393=) c.641A= (p.His214=) c.920A= (p.His307=) c.-4294966328A= c.-4294966049A= c.842A= (p.His281=) | |
2 | g.232534106A>C | CA351005290 | CHRND | c.1223A>C (p.His408Pro) c.*405A>C (n.*405A>C) c.*864A>C (n.*864A>C) c.1178A>C (p.His393Pro) c.641A>C (p.His214Pro) c.920A>C (p.His307Pro) c.-4294966328A>C c.-4294966049A>C c.842A>C (p.His281Pro) | dbSNP gnomAD v2 |
2 | g.232534106A>G | CA351005289 | CHRND | c.1223A>G (p.His408Arg) c.*405A>G (n.*405A>G) c.*864A>G (n.*864A>G) c.1178A>G (p.His393Arg) c.641A>G (p.His214Arg) c.920A>G (p.His307Arg) c.-4294966328A>G c.-4294966049A>G c.842A>G (p.His281Arg) | ClinVar gnomAD v4 |
2 | g.232534106A>T | CA351005288 | CHRND | c.1223A>T (p.His408Leu) c.*405A>T (n.*405A>T) c.*864A>T (n.*864A>T) c.1178A>T (p.His393Leu) c.641A>T (p.His214Leu) c.920A>T (p.His307Leu) c.-4294966328A>T c.-4294966049A>T c.842A>T (p.His281Leu) | |
2 | g.232534107T>A | CA351005291 | CHRND | c.1224T>A (p.His408Gln) c.*406T>A (n.*406T>A) c.*865T>A (n.*865T>A) c.1179T>A (p.His393Gln) c.642T>A (p.His214Gln) c.921T>A (p.His307Gln) c.-4294966327T>A c.-4294966048T>A c.843T>A (p.His281Gln) | |
2 | g.232534107T>C | CA431952569 | CHRND | c.1224T>C (p.His408=) c.*406T>C (n.*406T>C) c.*865T>C (n.*865T>C) c.1179T>C (p.His393=) c.642T>C (p.His214=) c.921T>C (p.His307=) c.-4294966327T>C c.-4294966048T>C c.843T>C (p.His281=) | gnomAD v4 |
2 | g.232534107T>G | CA351005292 | CHRND | c.1224T>G (p.His408Gln) c.*406T>G (n.*406T>G) c.*865T>G (n.*865T>G) c.1179T>G (p.His393Gln) c.642T>G (p.His214Gln) c.921T>G (p.His307Gln) c.-4294966327T>G c.-4294966048T>G c.843T>G (p.His281Gln) | |
2 | g.232534108G>A | CA2168295 | CHRND | c.1225G>A (p.Gly409Arg) c.*407G>A (n.*407G>A) c.*866G>A (n.*866G>A) c.1180G>A (p.Gly394Arg) c.643G>A (p.Gly215Arg) c.922G>A (p.Gly308Arg) c.-4294966326G>A c.-4294966047G>A c.844G>A (p.Gly282Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232534108G>C | CA351005293 | CHRND | c.1225G>C (p.Gly409Arg) c.*407G>C (n.*407G>C) c.*866G>C (n.*866G>C) c.1180G>C (p.Gly394Arg) c.643G>C (p.Gly215Arg) c.922G>C (p.Gly308Arg) c.-4294966326G>C c.-4294966047G>C c.844G>C (p.Gly282Arg) | |
2 | g.232534108G= | CA1335314012 | CHRND | c.1225G= (p.Gly409=) c.*407G= (n.*407G=) c.*866G= (n.*866G=) c.1180G= (p.Gly394=) c.643G= (p.Gly215=) c.922G= (p.Gly308=) c.-4294966326G= c.-4294966047G= c.844G= (p.Gly282=) | |
2 | g.232534108G>T | CA351005294 | CHRND | c.1225G>T (p.Gly409Trp) c.*407G>T (n.*407G>T) c.*866G>T (n.*866G>T) c.1180G>T (p.Gly394Trp) c.643G>T (p.Gly215Trp) c.922G>T (p.Gly308Trp) c.-4294966326G>T c.-4294966047G>T c.844G>T (p.Gly282Trp) | |
2 | g.232534109G>A | CA351005295 | CHRND | c.1226G>A (p.Gly409Glu) c.*408G>A (n.*408G>A) c.*867G>A (n.*867G>A) c.1181G>A (p.Gly394Glu) c.644G>A (p.Gly215Glu) c.923G>A (p.Gly308Glu) c.-4294966325G>A c.-4294966046G>A c.845G>A (p.Gly282Glu) | gnomAD v4 |
2 | g.232534109G>C | CA351005296 | CHRND | c.1226G>C (p.Gly409Ala) c.*408G>C (n.*408G>C) c.*867G>C (n.*867G>C) c.1181G>C (p.Gly394Ala) c.644G>C (p.Gly215Ala) c.923G>C (p.Gly308Ala) c.-4294966325G>C c.-4294966046G>C c.845G>C (p.Gly282Ala) | gnomAD v4 |
2 | g.232534109G>T | CA351005297 | CHRND | c.1226G>T (p.Gly409Val) c.*408G>T (n.*408G>T) c.*867G>T (n.*867G>T) c.1181G>T (p.Gly394Val) c.644G>T (p.Gly215Val) c.923G>T (p.Gly308Val) c.-4294966325G>T c.-4294966046G>T c.845G>T (p.Gly282Val) | |
2 | g.232534110G>A | CA431952570 | CHRND | c.1227G>A (p.Gly409=) c.*409G>A (n.*409G>A) c.*868G>A (n.*868G>A) c.1182G>A (p.Gly394=) c.645G>A (p.Gly215=) c.924G>A (p.Gly308=) c.-4294966324G>A c.-4294966045G>A c.846G>A (p.Gly282=) | |
2 | g.232534110G>C | CA431952571 | CHRND | c.1227G>C (p.Gly409=) c.*409G>C (n.*409G>C) c.*868G>C (n.*868G>C) c.1182G>C (p.Gly394=) c.645G>C (p.Gly215=) c.924G>C (p.Gly308=) c.-4294966324G>C c.-4294966045G>C c.846G>C (p.Gly282=) | |
2 | g.232534110G>T | CA431952572 | CHRND | c.1227G>T (p.Gly409=) c.*409G>T (n.*409G>T) c.*868G>T (n.*868G>T) c.1182G>T (p.Gly394=) c.645G>T (p.Gly215=) c.924G>T (p.Gly308=) c.-4294966324G>T c.-4294966045G>T c.846G>T (p.Gly282=) | |
2 | g.232534111C>A | CA351005298 | CHRND | c.1228C>A (p.Leu410Met) c.*410C>A (n.*410C>A) c.*869C>A (n.*869C>A) c.1183C>A (p.Leu395Met) c.646C>A (p.Leu216Met) c.925C>A (p.Leu309Met) c.-4294966323C>A c.-4294966044C>A c.847C>A (p.Leu283Met) | |
2 | g.232534111C= | CA1335314013 | CHRND | c.1228C= (p.Leu410=) c.*410C= (n.*410C=) c.*869C= (n.*869C=) c.1183C= (p.Leu395=) c.646C= (p.Leu216=) c.925C= (p.Leu309=) c.-4294966323C= c.-4294966044C= c.847C= (p.Leu283=) | |
2 | g.232534111C>G | CA351005299 | CHRND | c.1228C>G (p.Leu410Val) c.*410C>G (n.*410C>G) c.*869C>G (n.*869C>G) c.1183C>G (p.Leu395Val) c.646C>G (p.Leu216Val) c.925C>G (p.Leu309Val) c.-4294966323C>G c.-4294966044C>G c.847C>G (p.Leu283Val) | gnomAD v4 |
2 | g.232534111C>T | CA66957546 | CHRND | c.1228C>T (p.Leu410=) c.*410C>T (n.*410C>T) c.*869C>T (n.*869C>T) c.1183C>T (p.Leu395=) c.646C>T (p.Leu216=) c.925C>T (p.Leu309=) c.-4294966323C>T c.-4294966044C>T c.847C>T (p.Leu283=) | dbSNP |
2 | g.232534112T>A | CA351005300 | CHRND | c.1229T>A (p.Leu410Gln) c.*411T>A (n.*411T>A) c.*870T>A (n.*870T>A) c.1184T>A (p.Leu395Gln) c.647T>A (p.Leu216Gln) c.926T>A (p.Leu309Gln) c.-4294966322T>A c.-4294966043T>A c.848T>A (p.Leu283Gln) | |
2 | g.232534112T>C | CA351005301 | CHRND | c.1229T>C (p.Leu410Pro) c.*411T>C (n.*411T>C) c.*870T>C (n.*870T>C) c.1184T>C (p.Leu395Pro) c.647T>C (p.Leu216Pro) c.926T>C (p.Leu309Pro) c.-4294966322T>C c.-4294966043T>C c.848T>C (p.Leu283Pro) | |
2 | g.232534112T>G | CA351005302 | CHRND | c.1229T>G (p.Leu410Arg) c.*411T>G (n.*411T>G) c.*870T>G (n.*870T>G) c.1184T>G (p.Leu395Arg) c.647T>G (p.Leu216Arg) c.926T>G (p.Leu309Arg) c.-4294966322T>G c.-4294966043T>G c.848T>G (p.Leu283Arg) | |
2 | g.232534113G>A | CA66957550 | CHRND | c.1230G>A (p.Leu410=) c.*412G>A (n.*412G>A) c.*871G>A (n.*871G>A) c.1185G>A (p.Leu395=) c.648G>A (p.Leu216=) c.927G>A (p.Leu309=) c.-4294966321G>A c.-4294966042G>A c.849G>A (p.Leu283=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232534113G>C | CA431952573 | CHRND | c.1230G>C (p.Leu410=) c.*412G>C (n.*412G>C) c.*871G>C (n.*871G>C) c.1185G>C (p.Leu395=) c.648G>C (p.Leu216=) c.927G>C (p.Leu309=) c.-4294966321G>C c.-4294966042G>C c.849G>C (p.Leu283=) | |
2 | g.232534113G= | CA1335314014 | CHRND | c.1230G= (p.Leu410=) c.*412G= (n.*412G=) c.*871G= (n.*871G=) c.1185G= (p.Leu395=) c.648G= (p.Leu216=) c.927G= (p.Leu309=) c.-4294966321G= c.-4294966042G= c.849G= (p.Leu283=) | |
2 | g.232534113G>T | CA66957559 | CHRND | c.1230G>T (p.Leu410=) c.*412G>T (n.*412G>T) c.*871G>T (n.*871G>T) c.1185G>T (p.Leu395=) c.648G>T (p.Leu216=) c.927G>T (p.Leu309=) c.-4294966321G>T c.-4294966042G>T c.849G>T (p.Leu283=) | dbSNP |
2 | g.232534114G>A | CA351005304 | CHRND | c.1231G>A (p.Ala411Thr) c.*413G>A (n.*413G>A) c.*872G>A (n.*872G>A) c.1186G>A (p.Ala396Thr) c.649G>A (p.Ala217Thr) c.928G>A (p.Ala310Thr) c.-4294966320G>A c.-4294966041G>A c.850G>A (p.Ala284Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232534114G>C | CA351005305 | CHRND | c.1231G>C (p.Ala411Pro) c.*413G>C (n.*413G>C) c.*872G>C (n.*872G>C) c.1186G>C (p.Ala396Pro) c.649G>C (p.Ala217Pro) c.928G>C (p.Ala310Pro) c.-4294966320G>C c.-4294966041G>C c.850G>C (p.Ala284Pro) | |
2 | g.232534114G= | CA1335314015 | CHRND | c.1231G= (p.Ala411=) c.*413G= (n.*413G=) c.*872G= (n.*872G=) c.1186G= (p.Ala396=) c.649G= (p.Ala217=) c.928G= (p.Ala310=) c.-4294966320G= c.-4294966041G= c.850G= (p.Ala284=) | |
2 | g.232534114G>T | CA351005303 | CHRND | c.1231G>T (p.Ala411Ser) c.*413G>T (n.*413G>T) c.*872G>T (n.*872G>T) c.1186G>T (p.Ala396Ser) c.649G>T (p.Ala217Ser) c.928G>T (p.Ala310Ser) c.-4294966320G>T c.-4294966041G>T c.850G>T (p.Ala284Ser) | |
2 | g.232534115C>A | CA351005306 | CHRND | c.1232C>A (p.Ala411Asp) c.*414C>A (n.*414C>A) c.*873C>A (n.*873C>A) c.1187C>A (p.Ala396Asp) c.650C>A (p.Ala217Asp) c.929C>A (p.Ala310Asp) c.-4294966319C>A c.-4294966040C>A c.851C>A (p.Ala284Asp) | |
2 | g.232534115C>G | CA351005307 | CHRND | c.1232C>G (p.Ala411Gly) c.*414C>G (n.*414C>G) c.*873C>G (n.*873C>G) c.1187C>G (p.Ala396Gly) c.650C>G (p.Ala217Gly) c.929C>G (p.Ala310Gly) c.-4294966319C>G c.-4294966040C>G c.851C>G (p.Ala284Gly) | |
2 | g.232534115C>T | CA351005308 | CHRND | c.1232C>T (p.Ala411Val) c.*414C>T (n.*414C>T) c.*873C>T (n.*873C>T) c.1187C>T (p.Ala396Val) c.650C>T (p.Ala217Val) c.929C>T (p.Ala310Val) c.-4294966319C>T c.-4294966040C>T c.851C>T (p.Ala284Val) | gnomAD v4 COSMIC |
2 | g.232534116C>A | CA431952574 | CHRND | c.1233C>A (p.Ala411=) c.*415C>A (n.*415C>A) c.*874C>A (n.*874C>A) c.1188C>A (p.Ala396=) c.651C>A (p.Ala217=) c.930C>A (p.Ala310=) c.-4294966318C>A c.-4294966039C>A c.852C>A (p.Ala284=) | |
2 | g.232534116C= | CA1335314016 | CHRND | c.1233C= (p.Ala411=) c.*415C= (n.*415C=) c.*874C= (n.*874C=) c.1188C= (p.Ala396=) c.651C= (p.Ala217=) c.930C= (p.Ala310=) c.-4294966318C= c.-4294966039C= c.852C= (p.Ala284=) | |
2 | g.232534116C>G | CA431952575 | CHRND | c.1233C>G (p.Ala411=) c.*415C>G (n.*415C>G) c.*874C>G (n.*874C>G) c.1188C>G (p.Ala396=) c.651C>G (p.Ala217=) c.930C>G (p.Ala310=) c.-4294966318C>G c.-4294966039C>G c.852C>G (p.Ala284=) | |
2 | g.232534116C>T | CA431952576 | CHRND | c.1233C>T (p.Ala411=) c.*415C>T (n.*415C>T) c.*874C>T (n.*874C>T) c.1188C>T (p.Ala396=) c.651C>T (p.Ala217=) c.930C>T (p.Ala310=) c.-4294966318C>T c.-4294966039C>T c.852C>T (p.Ala284=) | ClinVar dbSNP |
2 | g.232534117A>C | CA431952577 | CHRND | c.1234A>C (p.Arg412=) c.*416A>C (n.*416A>C) c.*875A>C (n.*875A>C) c.1189A>C (p.Arg397=) c.652A>C (p.Arg218=) c.931A>C (p.Arg311=) c.-4294966317A>C c.-4294966038A>C c.853A>C (p.Arg285=) | |
2 | g.232534117A>G | CA351005309 | CHRND | c.1234A>G (p.Arg412Gly) c.*416A>G (n.*416A>G) c.*875A>G (n.*875A>G) c.1189A>G (p.Arg397Gly) c.652A>G (p.Arg218Gly) c.931A>G (p.Arg311Gly) c.-4294966317A>G c.-4294966038A>G c.853A>G (p.Arg285Gly) | |
2 | g.232534117A>T | CA351005310 | CHRND | c.1234A>T (p.Arg412Trp) c.*416A>T (n.*416A>T) c.*875A>T (n.*875A>T) c.1189A>T (p.Arg397Trp) c.652A>T (p.Arg218Trp) c.931A>T (p.Arg311Trp) c.-4294966317A>T c.-4294966038A>T c.853A>T (p.Arg285Trp) | |
2 | g.232534118G>A | CA66957565 | CHRND | c.1235G>A (p.Arg412Lys) c.*417G>A (n.*417G>A) c.*876G>A (n.*876G>A) c.1190G>A (p.Arg397Lys) c.653G>A (p.Arg218Lys) c.932G>A (p.Arg311Lys) c.-4294966316G>A c.-4294966037G>A c.854G>A (p.Arg285Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534118G>C | CA351005311 | CHRND | c.1235G>C (p.Arg412Thr) c.*417G>C (n.*417G>C) c.*876G>C (n.*876G>C) c.1190G>C (p.Arg397Thr) c.653G>C (p.Arg218Thr) c.932G>C (p.Arg311Thr) c.-4294966316G>C c.-4294966037G>C c.854G>C (p.Arg285Thr) | |
2 | g.232534118G= | CA1335314017 | CHRND | c.1235G= (p.Arg412=) c.*417G= (n.*417G=) c.*876G= (n.*876G=) c.1190G= (p.Arg397=) c.653G= (p.Arg218=) c.932G= (p.Arg311=) c.-4294966316G= c.-4294966037G= c.854G= (p.Arg285=) | |
2 | g.232534118G>T | CA351005312 | CHRND | c.1235G>T (p.Arg412Met) c.*417G>T (n.*417G>T) c.*876G>T (n.*876G>T) c.1190G>T (p.Arg397Met) c.653G>T (p.Arg218Met) c.932G>T (p.Arg311Met) c.-4294966316G>T c.-4294966037G>T c.854G>T (p.Arg285Met) | |
2 | g.232534119G>A | CA431952578 | CHRND | c.1236G>A (p.Arg412=) c.*418G>A (n.*418G>A) c.*877G>A (n.*877G>A) c.1191G>A (p.Arg397=) c.654G>A (p.Arg218=) c.933G>A (p.Arg311=) c.-4294966315G>A c.-4294966036G>A c.855G>A (p.Arg285=) | dbSNP |
2 | g.232534119G>C | CA351005313 | CHRND | c.1236G>C (p.Arg412Ser) c.*418G>C (n.*418G>C) c.*877G>C (n.*877G>C) c.1191G>C (p.Arg397Ser) c.654G>C (p.Arg218Ser) c.933G>C (p.Arg311Ser) c.-4294966315G>C c.-4294966036G>C c.855G>C (p.Arg285Ser) | |
2 | g.232534119G= | CA1335314018 | CHRND | c.1236G= (p.Arg412=) c.*418G= (n.*418G=) c.*877G= (n.*877G=) c.1191G= (p.Arg397=) c.654G= (p.Arg218=) c.933G= (p.Arg311=) c.-4294966315G= c.-4294966036G= c.855G= (p.Arg285=) | |
2 | g.232534119G>T | CA351005314 | CHRND | c.1236G>T (p.Arg412Ser) c.*418G>T (n.*418G>T) c.*877G>T (n.*877G>T) c.1191G>T (p.Arg397Ser) c.654G>T (p.Arg218Ser) c.933G>T (p.Arg311Ser) c.-4294966315G>T c.-4294966036G>T c.855G>T (p.Arg285Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.232534120C>A | CA351005319 | CHRND | c.1237C>A (p.Arg413Ser) c.*419C>A (n.*419C>A) c.*878C>A (n.*878C>A) c.1192C>A (p.Arg398Ser) c.655C>A (p.Arg219Ser) c.934C>A (p.Arg312Ser) c.-4294966314C>A c.-4294966035C>A c.856C>A (p.Arg286Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.232534120C= | CA1335314019 | CHRND | c.1237C= (p.Arg413=) c.*419C= (n.*419C=) c.*878C= (n.*878C=) c.1192C= (p.Arg398=) c.655C= (p.Arg219=) c.934C= (p.Arg312=) c.-4294966314C= c.-4294966035C= c.856C= (p.Arg286=) | |
2 | g.232534120C>G | CA351005318 | CHRND | c.1237C>G (p.Arg413Gly) c.*419C>G (n.*419C>G) c.*878C>G (n.*878C>G) c.1192C>G (p.Arg398Gly) c.655C>G (p.Arg219Gly) c.934C>G (p.Arg312Gly) c.-4294966314C>G c.-4294966035C>G c.856C>G (p.Arg286Gly) | gnomAD v4 |
2 | g.232534120C>T | CA351005317 | CHRND | c.1237C>T (p.Arg413Cys) c.*419C>T (n.*419C>T) c.*878C>T (n.*878C>T) c.1192C>T (p.Arg398Cys) c.655C>T (p.Arg219Cys) c.934C>T (p.Arg312Cys) c.-4294966314C>T c.-4294966035C>T c.856C>T (p.Arg286Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534121G>A | CA2168296 | CHRND | c.1238G>A (p.Arg413His) c.*420G>A (n.*420G>A) c.*879G>A (n.*879G>A) c.1193G>A (p.Arg398His) c.656G>A (p.Arg219His) c.935G>A (p.Arg312His) c.-4294966313G>A c.-4294966034G>A c.857G>A (p.Arg286His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534121G>C | CA351005320 | CHRND | c.1238G>C (p.Arg413Pro) c.*420G>C (n.*420G>C) c.*879G>C (n.*879G>C) c.1193G>C (p.Arg398Pro) c.656G>C (p.Arg219Pro) c.935G>C (p.Arg312Pro) c.-4294966313G>C c.-4294966034G>C c.857G>C (p.Arg286Pro) | |
2 | g.232534121G= | CA1335314020 | CHRND | c.1238G= (p.Arg413=) c.*420G= (n.*420G=) c.*879G= (n.*879G=) c.1193G= (p.Arg398=) c.656G= (p.Arg219=) c.935G= (p.Arg312=) c.-4294966313G= c.-4294966034G= c.857G= (p.Arg286=) | |
2 | g.232534121G>T | CA351005321 | CHRND | c.1238G>T (p.Arg413Leu) c.*420G>T (n.*420G>T) c.*879G>T (n.*879G>T) c.1193G>T (p.Arg398Leu) c.656G>T (p.Arg219Leu) c.935G>T (p.Arg312Leu) c.-4294966313G>T c.-4294966034G>T c.857G>T (p.Arg286Leu) | ClinVar COSMIC |
2 | g.232534122C>A | CA431952579 | CHRND | c.1239C>A (p.Arg413=) c.*421C>A (n.*421C>A) c.*880C>A (n.*880C>A) c.1194C>A (p.Arg398=) c.657C>A (p.Arg219=) c.936C>A (p.Arg312=) c.-4294966312C>A c.-4294966033C>A c.858C>A (p.Arg286=) | |
2 | g.232534122C>G | CA431952580 | CHRND | c.1239C>G (p.Arg413=) c.*421C>G (n.*421C>G) c.*880C>G (n.*880C>G) c.1194C>G (p.Arg398=) c.657C>G (p.Arg219=) c.936C>G (p.Arg312=) c.-4294966312C>G c.-4294966033C>G c.858C>G (p.Arg286=) | |
2 | g.232534122C>T | CA431952581 | CHRND | c.1239C>T (p.Arg413=) c.*421C>T (n.*421C>T) c.*880C>T (n.*880C>T) c.1194C>T (p.Arg398=) c.657C>T (p.Arg219=) c.936C>T (p.Arg312=) c.-4294966312C>T c.-4294966033C>T c.858C>T (p.Arg286=) | |
2 | g.232534123C>A | CA351005322 | CHRND | c.1240C>A (p.Leu414Ile) c.*422C>A (n.*422C>A) c.*881C>A (n.*881C>A) c.1195C>A (p.Leu399Ile) c.658C>A (p.Leu220Ile) c.937C>A (p.Leu313Ile) c.-4294966311C>A c.-4294966032C>A c.859C>A (p.Leu287Ile) | |
2 | g.232534123C>G | CA351005323 | CHRND | c.1240C>G (p.Leu414Val) c.*422C>G (n.*422C>G) c.*881C>G (n.*881C>G) c.1195C>G (p.Leu399Val) c.658C>G (p.Leu220Val) c.937C>G (p.Leu313Val) c.-4294966311C>G c.-4294966032C>G c.859C>G (p.Leu287Val) | |
2 | g.232534123C>T | CA351005324 | CHRND | c.1240C>T (p.Leu414Phe) c.*422C>T (n.*422C>T) c.*881C>T (n.*881C>T) c.1195C>T (p.Leu399Phe) c.658C>T (p.Leu220Phe) c.937C>T (p.Leu313Phe) c.-4294966311C>T c.-4294966032C>T c.859C>T (p.Leu287Phe) | |
2 | g.232534124T>A | CA351005325 | CHRND | c.1241T>A (p.Leu414His) c.*423T>A (n.*423T>A) c.*882T>A (n.*882T>A) c.1196T>A (p.Leu399His) c.659T>A (p.Leu220His) c.938T>A (p.Leu313His) c.-4294966310T>A c.-4294966031T>A c.860T>A (p.Leu287His) | |
2 | g.232534124T>C | CA351005326 | CHRND | c.1241T>C (p.Leu414Pro) c.*423T>C (n.*423T>C) c.*882T>C (n.*882T>C) c.1196T>C (p.Leu399Pro) c.659T>C (p.Leu220Pro) c.938T>C (p.Leu313Pro) c.-4294966310T>C c.-4294966031T>C c.860T>C (p.Leu287Pro) | |
2 | g.232534124T>G | CA351005327 | CHRND | c.1241T>G (p.Leu414Arg) c.*423T>G (n.*423T>G) c.*882T>G (n.*882T>G) c.1196T>G (p.Leu399Arg) c.659T>G (p.Leu220Arg) c.938T>G (p.Leu313Arg) c.-4294966310T>G c.-4294966031T>G c.860T>G (p.Leu287Arg) | |
2 | g.232534125C>A | CA431952584 | CHRND | c.1242C>A (p.Leu414=) c.*424C>A (n.*424C>A) c.*883C>A (n.*883C>A) c.1197C>A (p.Leu399=) c.660C>A (p.Leu220=) c.939C>A (p.Leu313=) c.-4294966309C>A c.-4294966030C>A c.861C>A (p.Leu287=) | |
2 | g.232534125C>G | CA431952583 | CHRND | c.1242C>G (p.Leu414=) c.*424C>G (n.*424C>G) c.*883C>G (n.*883C>G) c.1197C>G (p.Leu399=) c.660C>G (p.Leu220=) c.939C>G (p.Leu313=) c.-4294966309C>G c.-4294966030C>G c.861C>G (p.Leu287=) | |
2 | g.232534125C>T | CA431952582 | CHRND | c.1242C>T (p.Leu414=) c.*424C>T (n.*424C>T) c.*883C>T (n.*883C>T) c.1197C>T (p.Leu399=) c.660C>T (p.Leu220=) c.939C>T (p.Leu313=) c.-4294966309C>T c.-4294966030C>T c.861C>T (p.Leu287=) | |
2 | g.232534126A>C | CA351005328 | CHRND | c.1243A>C (p.Thr415Pro) c.*425A>C (n.*425A>C) c.*884A>C (n.*884A>C) c.1198A>C (p.Thr400Pro) c.661A>C (p.Thr221Pro) c.940A>C (p.Thr314Pro) c.-4294966308A>C c.-4294966029A>C c.862A>C (p.Thr288Pro) | |
2 | g.232534126A>G | CA351005330 | CHRND | c.1243A>G (p.Thr415Ala) c.*425A>G (n.*425A>G) c.*884A>G (n.*884A>G) c.1198A>G (p.Thr400Ala) c.661A>G (p.Thr221Ala) c.940A>G (p.Thr314Ala) c.-4294966308A>G c.-4294966029A>G c.862A>G (p.Thr288Ala) | |
2 | g.232534126A>T | CA351005331 | CHRND | c.1243A>T (p.Thr415Ser) c.*425A>T (n.*425A>T) c.*884A>T (n.*884A>T) c.1198A>T (p.Thr400Ser) c.661A>T (p.Thr221Ser) c.940A>T (p.Thr314Ser) c.-4294966308A>T c.-4294966029A>T c.862A>T (p.Thr288Ser) | |
2 | g.232534127C>A | CA351005333 | CHRND | c.1244C>A (p.Thr415Asn) c.*426C>A (n.*426C>A) c.*885C>A (n.*885C>A) c.1199C>A (p.Thr400Asn) c.662C>A (p.Thr221Asn) c.941C>A (p.Thr314Asn) c.-4294966307C>A c.-4294966028C>A c.863C>A (p.Thr288Asn) | |
2 | g.232534127C>G | CA351005335 | CHRND | c.1244C>G (p.Thr415Ser) c.*426C>G (n.*426C>G) c.*885C>G (n.*885C>G) c.1199C>G (p.Thr400Ser) c.662C>G (p.Thr221Ser) c.941C>G (p.Thr314Ser) c.-4294966307C>G c.-4294966028C>G c.863C>G (p.Thr288Ser) | |
2 | g.232534127C>T | CA351005332 | CHRND | c.1244C>T (p.Thr415Ile) c.*426C>T (n.*426C>T) c.*885C>T (n.*885C>T) c.1199C>T (p.Thr400Ile) c.662C>T (p.Thr221Ile) c.941C>T (p.Thr314Ile) c.-4294966307C>T c.-4294966028C>T c.863C>T (p.Thr288Ile) | |
2 | g.232534128C>A | CA431952585 | CHRND | c.1245C>A (p.Thr415=) c.*427C>A (n.*427C>A) c.*886C>A (n.*886C>A) c.1200C>A (p.Thr400=) c.663C>A (p.Thr221=) c.942C>A (p.Thr314=) c.-4294966306C>A c.-4294966027C>A c.864C>A (p.Thr288=) | |
2 | g.232534128C>G | CA431952586 | CHRND | c.1245C>G (p.Thr415=) c.*427C>G (n.*427C>G) c.*886C>G (n.*886C>G) c.1200C>G (p.Thr400=) c.663C>G (p.Thr221=) c.942C>G (p.Thr314=) c.-4294966306C>G c.-4294966027C>G c.864C>G (p.Thr288=) | |
2 | g.232534128C>T | CA431952587 | CHRND | c.1245C>T (p.Thr415=) c.*427C>T (n.*427C>T) c.*886C>T (n.*886C>T) c.1200C>T (p.Thr400=) c.663C>T (p.Thr221=) c.942C>T (p.Thr314=) c.-4294966306C>T c.-4294966027C>T c.864C>T (p.Thr288=) | |
2 | g.232534128_232534131dup | CA2663623452 | CHRND | c.1245_1248dup (p.Ala417HisfsTer10) c.*427_*430dup (n.*427_*430dup) c.*886_*889dup (n.*886_*889dup) c.1200_1203dup (p.Ala402HisfsTer10) c.663_666dup (p.Ala223HisfsTer10) c.942_945dup (p.Ala316HisfsTer10) c.-4294966306_-4294966303dup c.-4294966027_-4294966024dup c.864_867dup (p.Ala290HisfsTer10) | gnomAD v4 |
2 | g.232534129A= | CA1335314021 | CHRND | c.1246A= (p.Thr416=) c.*428A= (n.*428A=) c.*887A= (n.*887A=) c.1201A= (p.Thr401=) c.664A= (p.Thr222=) c.943A= (p.Thr315=) c.-4294966305A= c.-4294966026A= c.865A= (p.Thr289=) | |
2 | g.232534129A>C | CA351005337 | CHRND | c.1246A>C (p.Thr416Pro) c.*428A>C (n.*428A>C) c.*887A>C (n.*887A>C) c.1201A>C (p.Thr401Pro) c.664A>C (p.Thr222Pro) c.943A>C (p.Thr315Pro) c.-4294966305A>C c.-4294966026A>C c.865A>C (p.Thr289Pro) | |
2 | g.232534129A>G | CA2168297 | CHRND | c.1246A>G (p.Thr416Ala) c.*428A>G (n.*428A>G) c.*887A>G (n.*887A>G) c.1201A>G (p.Thr401Ala) c.664A>G (p.Thr222Ala) c.943A>G (p.Thr315Ala) c.-4294966305A>G c.-4294966026A>G c.865A>G (p.Thr289Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232534129A>T | CA351005336 | CHRND | c.1246A>T (p.Thr416Ser) c.*428A>T (n.*428A>T) c.*887A>T (n.*887A>T) c.1201A>T (p.Thr401Ser) c.664A>T (p.Thr222Ser) c.943A>T (p.Thr315Ser) c.-4294966305A>T c.-4294966026A>T c.865A>T (p.Thr289Ser) | |
2 | g.232534130C>A | CA351005338 | CHRND | c.1247C>A (p.Thr416Asn) c.*429C>A (n.*429C>A) c.*888C>A (n.*888C>A) c.1202C>A (p.Thr401Asn) c.665C>A (p.Thr222Asn) c.944C>A (p.Thr315Asn) c.-4294966304C>A c.-4294966025C>A c.866C>A (p.Thr289Asn) | |
2 | g.232534130C>G | CA351005339 | CHRND | c.1247C>G (p.Thr416Ser) c.*429C>G (n.*429C>G) c.*888C>G (n.*888C>G) c.1202C>G (p.Thr401Ser) c.665C>G (p.Thr222Ser) c.944C>G (p.Thr315Ser) c.-4294966304C>G c.-4294966025C>G c.866C>G (p.Thr289Ser) | |
2 | g.232534130C>T | CA351005340 | CHRND | c.1247C>T (p.Thr416Ile) c.*429C>T (n.*429C>T) c.*888C>T (n.*888C>T) c.1202C>T (p.Thr401Ile) c.665C>T (p.Thr222Ile) c.944C>T (p.Thr315Ile) c.-4294966304C>T c.-4294966025C>T c.866C>T (p.Thr289Ile) | |
2 | g.232534131T>A | CA431952588 | CHRND | c.1248T>A (p.Thr416=) c.*430T>A (n.*430T>A) c.*889T>A (n.*889T>A) c.1203T>A (p.Thr401=) c.666T>A (p.Thr222=) c.945T>A (p.Thr315=) c.-4294966303T>A c.-4294966024T>A c.867T>A (p.Thr289=) | |
2 | g.232534131T>C | CA431952589 | CHRND | c.1248T>C (p.Thr416=) c.*430T>C (n.*430T>C) c.*889T>C (n.*889T>C) c.1203T>C (p.Thr401=) c.666T>C (p.Thr222=) c.945T>C (p.Thr315=) c.-4294966303T>C c.-4294966024T>C c.867T>C (p.Thr289=) | |
2 | g.232534131T>G | CA431952590 | CHRND | c.1248T>G (p.Thr416=) c.*430T>G (n.*430T>G) c.*889T>G (n.*889T>G) c.1203T>G (p.Thr401=) c.666T>G (p.Thr222=) c.945T>G (p.Thr315=) c.-4294966303T>G c.-4294966024T>G c.867T>G (p.Thr289=) | |
2 | g.232534132G>A | CA351005341 | CHRND | c.1249G>A (p.Ala417Thr) c.*431G>A (n.*431G>A) c.*890G>A (n.*890G>A) c.1204G>A (p.Ala402Thr) c.667G>A (p.Ala223Thr) c.946G>A (p.Ala316Thr) c.-4294966302G>A c.-4294966023G>A c.868G>A (p.Ala290Thr) | |
2 | g.232534132G>C | CA351005342 | CHRND | c.1249G>C (p.Ala417Pro) c.*431G>C (n.*431G>C) c.*890G>C (n.*890G>C) c.1204G>C (p.Ala402Pro) c.667G>C (p.Ala223Pro) c.946G>C (p.Ala316Pro) c.-4294966302G>C c.-4294966023G>C c.868G>C (p.Ala290Pro) | |
2 | g.232534132G= | CA1335314022 | CHRND | c.1249G= (p.Ala417=) c.*431G= (n.*431G=) c.*890G= (n.*890G=) c.1204G= (p.Ala402=) c.667G= (p.Ala223=) c.946G= (p.Ala316=) c.-4294966302G= c.-4294966023G= c.868G= (p.Ala290=) | |
2 | g.232534132G>T | CA66957567 | CHRND | c.1249G>T (p.Ala417Ser) c.*431G>T (n.*431G>T) c.*890G>T (n.*890G>T) c.1204G>T (p.Ala402Ser) c.667G>T (p.Ala223Ser) c.946G>T (p.Ala316Ser) c.-4294966302G>T c.-4294966023G>T c.868G>T (p.Ala290Ser) | dbSNP |
2 | g.232534133_232534139del | CA2663623459 | CHRND | c.1250_1252+4del c.*432_*434+4del c.*891_*893+4del c.1205_1207+4del c.668_670+4del c.947_949+4del c.-4294966301_-4294966299+4del c.-4294966022_-4294966020+4del c.869_871+4del | gnomAD v4 |
2 | g.232534133C>A | CA351005343 | CHRND | c.1250C>A (p.Ala417Glu) c.*432C>A (n.*432C>A) c.*891C>A (n.*891C>A) c.1205C>A (p.Ala402Glu) c.668C>A (p.Ala223Glu) c.947C>A (p.Ala316Glu) c.-4294966301C>A c.-4294966022C>A c.869C>A (p.Ala290Glu) | |
2 | g.232534133C>G | CA351005344 | CHRND | c.1250C>G (p.Ala417Gly) c.*432C>G (n.*432C>G) c.*891C>G (n.*891C>G) c.1205C>G (p.Ala402Gly) c.668C>G (p.Ala223Gly) c.947C>G (p.Ala316Gly) c.-4294966301C>G c.-4294966022C>G c.869C>G (p.Ala290Gly) | |
2 | g.232534133C>T | CA351005345 | CHRND | c.1250C>T (p.Ala417Val) c.*432C>T (n.*432C>T) c.*891C>T (n.*891C>T) c.1205C>T (p.Ala402Val) c.668C>T (p.Ala223Val) c.947C>T (p.Ala316Val) c.-4294966301C>T c.-4294966022C>T c.869C>T (p.Ala290Val) | |
2 | g.232534134A= | CA1335314023 | CHRND | c.1251A= (p.Ala417=) c.*433A= (n.*433A=) c.*892A= (n.*892A=) c.1206A= (p.Ala402=) c.669A= (p.Ala223=) c.948A= (p.Ala316=) c.-4294966300A= c.-4294966021A= c.870A= (p.Ala290=) | |
2 | g.232534134A>C | CA431952591 | CHRND | c.1251A>C (p.Ala417=) c.*433A>C (n.*433A>C) c.*892A>C (n.*892A>C) c.1206A>C (p.Ala402=) c.669A>C (p.Ala223=) c.948A>C (p.Ala316=) c.-4294966300A>C c.-4294966021A>C c.870A>C (p.Ala290=) | |
2 | g.232534134A>G | CA431952592 | CHRND | c.1251A>G (p.Ala417=) c.*433A>G (n.*433A>G) c.*892A>G (n.*892A>G) c.1206A>G (p.Ala402=) c.669A>G (p.Ala223=) c.948A>G (p.Ala316=) c.-4294966300A>G c.-4294966021A>G c.870A>G (p.Ala290=) | dbSNP gnomAD v4 |
2 | g.232534134A>T | CA431952593 | CHRND | c.1251A>T (p.Ala417=) c.*433A>T (n.*433A>T) c.*892A>T (n.*892A>T) c.1206A>T (p.Ala402=) c.669A>T (p.Ala223=) c.948A>T (p.Ala316=) c.-4294966300A>T c.-4294966021A>T c.870A>T (p.Ala290=) | |
2 | g.232534135C>A | CA351005347 | CHRND | c.1252C>A (p.Arg418Ser) c.*434C>A (n.*434C>A) c.*893C>A (n.*893C>A) c.1207C>A (p.Arg403Ser) c.670C>A (p.Arg224Ser) c.949C>A (p.Arg317Ser) c.-4294966299C>A c.-4294966020C>A c.871C>A (p.Arg291Ser) | |
2 | g.232534135C= | CA1335314024 | CHRND | c.1252C= (p.Arg418=) c.*434C= (n.*434C=) c.*893C= (n.*893C=) c.1207C= (p.Arg403=) c.670C= (p.Arg224=) c.949C= (p.Arg317=) c.-4294966299C= c.-4294966020C= c.871C= (p.Arg291=) | |
2 | g.232534135C>G | CA351005346 | CHRND | c.1252C>G (p.Arg418Gly) c.*434C>G (n.*434C>G) c.*893C>G (n.*893C>G) c.1207C>G (p.Arg403Gly) c.670C>G (p.Arg224Gly) c.949C>G (p.Arg317Gly) c.-4294966299C>G c.-4294966020C>G c.871C>G (p.Arg291Gly) | ClinVar |
2 | g.232534135C>T | CA2168298 | CHRND | c.1252C>T (p.Arg418Cys) c.*434C>T (n.*434C>T) c.*893C>T (n.*893C>T) c.1207C>T (p.Arg403Cys) c.670C>T (p.Arg224Cys) c.949C>T (p.Arg317Cys) c.-4294966299C>T c.-4294966020C>T c.871C>T (p.Arg291Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534136G>A | CA351005348 | CHRND | c.1252+1G>A (n.1252+1G>A) c.*434+1G>A (n.*434+1G>A) c.*893+1G>A (n.*893+1G>A) c.1207+1G>A (n.1207+1G>A) c.670+1G>A (n.670+1G>A) c.949+1G>A (n.949+1G>A) c.-4294966299+1G>A c.-4294966020+1G>A c.871+1G>A (n.871+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534136G>C | CA351005349 | CHRND | c.1252+1G>C (n.1252+1G>C) c.*434+1G>C (n.*434+1G>C) c.*893+1G>C (n.*893+1G>C) c.1207+1G>C (n.1207+1G>C) c.670+1G>C (n.670+1G>C) c.949+1G>C (n.949+1G>C) c.-4294966299+1G>C c.-4294966020+1G>C c.871+1G>C (n.871+1G>C) | |
2 | g.232534136G= | CA1335314025 | CHRND | c.1252+1G= (n.1252+1G=) c.*434+1G= (n.*434+1G=) c.*893+1G= (n.*893+1G=) c.1207+1G= (n.1207+1G=) c.670+1G= (n.670+1G=) c.949+1G= (n.949+1G=) c.-4294966299+1G= c.-4294966020+1G= c.871+1G= (n.871+1G=) | |
2 | g.232534136G>T | CA351005350 | CHRND | c.1252+1G>T (n.1252+1G>T) c.*434+1G>T (n.*434+1G>T) c.*893+1G>T (n.*893+1G>T) c.1207+1G>T (n.1207+1G>T) c.670+1G>T (n.670+1G>T) c.949+1G>T (n.949+1G>T) c.-4294966299+1G>T c.-4294966020+1G>T c.871+1G>T (n.871+1G>T) | |
2 | g.232534137T>A | CA351005351 | CHRND | c.1252+2T>A (n.1252+2T>A) c.*434+2T>A (n.*434+2T>A) c.*893+2T>A (n.*893+2T>A) c.1207+2T>A (n.1207+2T>A) c.670+2T>A (n.670+2T>A) c.949+2T>A (n.949+2T>A) c.-4294966299+2T>A c.-4294966020+2T>A c.871+2T>A (n.871+2T>A) | |
2 | g.232534137T>C | CA351005352 | CHRND | c.1252+2T>C (n.1252+2T>C) c.*434+2T>C (n.*434+2T>C) c.*893+2T>C (n.*893+2T>C) c.1207+2T>C (n.1207+2T>C) c.670+2T>C (n.670+2T>C) c.949+2T>C (n.949+2T>C) c.-4294966299+2T>C c.-4294966020+2T>C c.871+2T>C (n.871+2T>C) | |
2 | g.232534137T>G | CA351005353 | CHRND | c.1252+2T>G (n.1252+2T>G) c.*434+2T>G (n.*434+2T>G) c.*893+2T>G (n.*893+2T>G) c.1207+2T>G (n.1207+2T>G) c.670+2T>G (n.670+2T>G) c.949+2T>G (n.949+2T>G) c.-4294966299+2T>G c.-4294966020+2T>G c.871+2T>G (n.871+2T>G) | |
2 | g.232534140G>A | CA2568377119 | CHRND | c.1252+5G>A (n.1252+5G>A) c.*434+5G>A (n.*434+5G>A) c.*893+5G>A (n.*893+5G>A) c.1207+5G>A (n.1207+5G>A) c.670+5G>A (n.670+5G>A) c.949+5G>A (n.949+5G>A) c.-4294966299+5G>A c.-4294966020+5G>A c.871+5G>A (n.871+5G>A) | |
2 | g.232534142C= | CA1335314026 | CHRND | c.1252+7C= (n.1252+7C=) c.*434+7C= (n.*434+7C=) c.*893+7C= (n.*893+7C=) c.1207+7C= (n.1207+7C=) c.670+7C= (n.670+7C=) c.949+7C= (n.949+7C=) c.-4294966299+7C= c.-4294966020+7C= c.871+7C= (n.871+7C=) | |
2 | g.232534142C>T | CA1335314027 | CHRND | c.1252+7C>T (n.1252+7C>T) c.*434+7C>T (n.*434+7C>T) c.*893+7C>T (n.*893+7C>T) c.1207+7C>T (n.1207+7C>T) c.670+7C>T (n.670+7C>T) c.949+7C>T (n.949+7C>T) c.-4294966299+7C>T c.-4294966020+7C>T c.871+7C>T (n.871+7C>T) | dbSNP |
2 | g.232534143C= | CA1335314028 | CHRND | c.1252+8C= (n.1252+8C=) c.*434+8C= (n.*434+8C=) c.*893+8C= (n.*893+8C=) c.1207+8C= (n.1207+8C=) c.670+8C= (n.670+8C=) c.949+8C= (n.949+8C=) c.-4294966299+8C= c.-4294966020+8C= c.871+8C= (n.871+8C=) | |
2 | g.232534143C>T | CA540309813 | CHRND | c.1252+8C>T (n.1252+8C>T) c.*434+8C>T (n.*434+8C>T) c.*893+8C>T (n.*893+8C>T) c.1207+8C>T (n.1207+8C>T) c.670+8C>T (n.670+8C>T) c.949+8C>T (n.949+8C>T) c.-4294966299+8C>T c.-4294966020+8C>T c.871+8C>T (n.871+8C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232534144C>A | CA540309814 | CHRND | c.1252+9C>A (n.1252+9C>A) c.*434+9C>A (n.*434+9C>A) c.*893+9C>A (n.*893+9C>A) c.1207+9C>A (n.1207+9C>A) c.670+9C>A (n.670+9C>A) c.949+9C>A (n.949+9C>A) c.-4294966299+9C>A c.-4294966020+9C>A c.871+9C>A (n.871+9C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.232534144C= | CA1335314029 | CHRND | c.1252+9C= (n.1252+9C=) c.*434+9C= (n.*434+9C=) c.*893+9C= (n.*893+9C=) c.1207+9C= (n.1207+9C=) c.670+9C= (n.670+9C=) c.949+9C= (n.949+9C=) c.-4294966299+9C= c.-4294966020+9C= c.871+9C= (n.871+9C=) | |
2 | g.232534145C= | CA1335314030 | CHRND | c.1252+10C= (n.1252+10C=) c.*434+10C= (n.*434+10C=) c.*893+10C= (n.*893+10C=) c.1207+10C= (n.1207+10C=) c.670+10C= (n.670+10C=) c.949+10C= (n.949+10C=) c.-4294966299+10C= c.-4294966020+10C= c.871+10C= (n.871+10C=) | |
2 | g.232534145C>T | CA2168299 | CHRND | c.1252+10C>T (n.1252+10C>T) c.*434+10C>T (n.*434+10C>T) c.*893+10C>T (n.*893+10C>T) c.1207+10C>T (n.1207+10C>T) c.670+10C>T (n.670+10C>T) c.949+10C>T (n.949+10C>T) c.-4294966299+10C>T c.-4294966020+10C>T c.871+10C>T (n.871+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534146G>A | CA2168300 | CHRND | c.1252+11G>A (n.1252+11G>A) c.*434+11G>A (n.*434+11G>A) c.*893+11G>A (n.*893+11G>A) c.1207+11G>A (n.1207+11G>A) c.670+11G>A (n.670+11G>A) c.949+11G>A (n.949+11G>A) c.-4294966299+11G>A c.-4294966020+11G>A c.871+11G>A (n.871+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534146G>C | CA766137556 | CHRND | c.1252+11G>C (n.1252+11G>C) c.*434+11G>C (n.*434+11G>C) c.*893+11G>C (n.*893+11G>C) c.1207+11G>C (n.1207+11G>C) c.670+11G>C (n.670+11G>C) c.949+11G>C (n.949+11G>C) c.-4294966299+11G>C c.-4294966020+11G>C c.871+11G>C (n.871+11G>C) | dbSNP |
2 | g.232534146G= | CA1335314031 | CHRND | c.1252+11G= (n.1252+11G=) c.*434+11G= (n.*434+11G=) c.*893+11G= (n.*893+11G=) c.1207+11G= (n.1207+11G=) c.670+11G= (n.670+11G=) c.949+11G= (n.949+11G=) c.-4294966299+11G= c.-4294966020+11G= c.871+11G= (n.871+11G=) | |
2 | g.232534148T>C | CA2168301 | CHRND | c.1252+13T>C (n.1252+13T>C) c.*434+13T>C (n.*434+13T>C) c.*893+13T>C (n.*893+13T>C) c.1207+13T>C (n.1207+13T>C) c.670+13T>C (n.670+13T>C) c.949+13T>C (n.949+13T>C) c.-4294966299+13T>C c.-4294966020+13T>C c.871+13T>C (n.871+13T>C) | dbSNP ExAC gnomAD v2 |
2 | g.232534148T= | CA1335314032 | CHRND | c.1252+13T= (n.1252+13T=) c.*434+13T= (n.*434+13T=) c.*893+13T= (n.*893+13T=) c.1207+13T= (n.1207+13T=) c.670+13T= (n.670+13T=) c.949+13T= (n.949+13T=) c.-4294966299+13T= c.-4294966020+13T= c.871+13T= (n.871+13T=) | |
2 | g.232534150G>A | CA431952382 | CHRND | c.1252+15G>A (n.1252+15G>A) c.*434+15G>A (n.*434+15G>A) c.*893+15G>A (n.*893+15G>A) c.1207+15G>A (n.1207+15G>A) c.670+15G>A (n.670+15G>A) c.949+15G>A (n.949+15G>A) c.-4294966299+15G>A c.-4294966020+15G>A c.871+15G>A (n.871+15G>A) | gnomAD v4 |
2 | g.232534150G>T | CA2663623476 | CHRND | c.1252+15G>T (n.1252+15G>T) c.*434+15G>T (n.*434+15G>T) c.*893+15G>T (n.*893+15G>T) c.1207+15G>T (n.1207+15G>T) c.670+15G>T (n.670+15G>T) c.949+15G>T (n.949+15G>T) c.-4294966299+15G>T c.-4294966020+15G>T c.871+15G>T (n.871+15G>T) | gnomAD v4 |
2 | g.232534151T>A | CA2168302 | CHRND | c.1252+16T>A (n.1252+16T>A) c.*434+16T>A (n.*434+16T>A) c.*893+16T>A (n.*893+16T>A) c.1207+16T>A (n.1207+16T>A) c.670+16T>A (n.670+16T>A) c.949+16T>A (n.949+16T>A) c.-4294966299+16T>A c.-4294966020+16T>A c.871+16T>A (n.871+16T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232534151T>G | CA1335314034 | CHRND | c.1252+16T>G (n.1252+16T>G) c.*434+16T>G (n.*434+16T>G) c.*893+16T>G (n.*893+16T>G) c.1207+16T>G (n.1207+16T>G) c.670+16T>G (n.670+16T>G) c.949+16T>G (n.949+16T>G) c.-4294966299+16T>G c.-4294966020+16T>G c.871+16T>G (n.871+16T>G) | dbSNP |
2 | g.232534151T= | CA1335314033 | CHRND | c.1252+16T= (n.1252+16T=) c.*434+16T= (n.*434+16T=) c.*893+16T= (n.*893+16T=) c.1207+16T= (n.1207+16T=) c.670+16T= (n.670+16T=) c.949+16T= (n.949+16T=) c.-4294966299+16T= c.-4294966020+16T= c.871+16T= (n.871+16T=) |