| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs137852741 |
C>G,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs137852742 |
C>G,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs137852743 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852744 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852745 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852746 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852747 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs137852748 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs137852749 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852750 |
T>A,C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852751 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs137852752 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852753 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs137852754 |
G>A |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs137852755 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
|
rs137852756 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs200948870 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs368090069 |
T>C,G |
Pathogenic |
Intron variant |
|
rs370120266 |
C>A,G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs371174955 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs373725296 |
A>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs374694591 |
G>C |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Coding sequence variant, missense variant |
|
rs397514496 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397514497 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs483352902 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs557172581 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs576091247 |
T>A,C |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs748230358 |
C>G,T |
Pathogenic |
Intron variant |
|
rs749485755 |
T>C,G |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
|
rs759293027 |
G>C,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs759990771 |
T>C,G |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs765887545 |
C>G,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs767070218 |
G>A |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs769408722 |
CTTT>- |
Pathogenic |
Intron variant |
|
rs769603144 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs777458559 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs780722371 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs863223419 |
T>A,G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs863223420 |
G>A,C,T |
Pathogenic |
Splice donor variant |
|
rs863223421 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs863223422 |
CTCAAGGAGACAATCGAAGACTGTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs863223423 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs863223424 |
A>G |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs863223425 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs863223426 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs868369541 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs869025366 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs869025367 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs878854272 |
CGAGGTGAGTGTATACAAAA>- |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant |
|
rs886039219 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886039220 |
->GGG |
Pathogenic |
Intron variant |
|
rs886039221 |
AGA>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs886039222 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs886039223 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886039673 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886041324 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs937502048 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs946132834 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1006246556 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1060502576 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1060502581 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307144 |
GC>AT |
Pathogenic |
5 prime UTR variant |
|
rs1085307145 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307146 |
CAGCG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307147 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307148 |
GCCCTGGCG>A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307149 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307150 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307151 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307152 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1085307153 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307154 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307155 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs1085307156 |
T>C,G |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs1085307157 |
G>A |
Likely-pathogenic, pathogenic |
Intron variant |
|
rs1085307158 |
AATAATTTGTCATTCCTTTATTTCCTTTATTTTAGCTTCGCAGAA>- |
Pathogenic |
Splice acceptor variant, coding sequence variant, intron variant |
|
rs1085307159 |
G>A |
Pathogenic |
Splice acceptor variant |
|
rs1085307160 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307161 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307162 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1085307163 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307164 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307165 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307166 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307167 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307168 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307169 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307170 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307171 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307172 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307173 |
TAGCACCTGCTATGGCCTT>GGAGCATAATCAAA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307174 |
TAGCACCTGCTATGGCCTTTG>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs1085307175 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307176 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307177 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307178 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307179 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307180 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307181 |
TTG>AAAAGGGGACA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307182 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307183 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307184 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307185 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307186 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307187 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307188 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1085307189 |
GCAAGTG>- |
Pathogenic |
Splice donor variant, coding sequence variant, intron variant |
|
rs1085307190 |
C>- |
Pathogenic |
Splice donor variant |
|
rs1085307191 |
T>G |
Pathogenic |
Intron variant |
|
rs1085307192 |
TATAGG>AC |
Pathogenic |
Splice acceptor variant, coding sequence variant, intron variant |
|
rs1085307193 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1085307194 |
G>A |
Pathogenic |
Splice acceptor variant |
|
rs1085307195 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307196 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307197 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307198 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307199 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307201 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307202 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307203 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307204 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1085307205 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307206 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307207 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307208 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1085307209 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307210 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307211 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307212 |
->AA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307213 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307214 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307215 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307216 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs1085307217 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307218 |
TA>AG |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
|
rs1085307219 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307220 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307221 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307222 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307223 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307224 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307225 |
AACAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307226 |
G>C,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs1085307227 |
TAA>GAG |
Pathogenic |
Splice donor variant, intron variant |
|
rs1085307228 |
A>T |
Pathogenic |
Intron variant |
|
rs1085307229 |
G>A |
Likely-pathogenic, pathogenic |
Intron variant |
|
rs1085307230 |
GTAA>- |
Pathogenic |
Splice donor variant, coding sequence variant, intron variant |
|
rs1085307231 |
T>C |
Pathogenic |
Intron variant |
|
rs1085307232 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307233 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307234 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307235 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307236 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307237 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307238 |
CTTT>AAA |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
|
rs1085307239 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307240 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307241 |
T>C |
Pathogenic |
Splice donor variant |
|
rs1085307242 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307243 |
ACAGTATGAACATGATGGAGGCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307244 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307245 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307246 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307247 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307248 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307249 |
TT>AAGG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307250 |
CGTCCAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307251 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307252 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307253 |
AG>T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307254 |
G>A,C,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1085307255 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307256 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307257 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307258 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307259 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307260 |
GA>TT |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307261 |
AGAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307262 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307263 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307265 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307266 |
G>A,C |
Pathogenic |
Splice donor variant |
|
rs1085307267 |
G>A,C |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs1085307268 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307269 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307270 |
T>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307271 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307272 |
->GG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307273 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307274 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307275 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307276 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307277 |
T>C |
Pathogenic |
Splice donor variant |
|
rs1085307278 |
A>- |
Pathogenic |
Intron variant |
|
rs1085307279 |
G>C,T |
Pathogenic |
Intron variant |
|
rs1085307280 |
C>G |
Pathogenic |
Intron variant |
|
rs1085307281 |
A>C |
Pathogenic |
Splice acceptor variant |
|
rs1085307282 |
G>T |
Pathogenic |
Splice acceptor variant |
|
rs1085307283 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307284 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307285 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307286 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307287 |
AAATG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307288 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307289 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307290 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307291 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307292 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307294 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307295 |
CGCCCA>G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307296 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307297 |
GGAGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307298 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307300 |
A>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307301 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307302 |
->GG |
Pathogenic |
Splice acceptor variant, coding sequence variant |
|
rs1085307303 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307304 |
T>C,G |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
|
rs1085307305 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307306 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307307 |
A>C,G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307308 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307309 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307310 |
TG>- |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
|
rs1085307311 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307312 |
T>C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs1085307313 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307314 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307315 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307316 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307317 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307318 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307319 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307320 |
TATT>GA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307321 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307322 |
TTAT>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307323 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307324 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307325 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307326 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307327 |
TCCCAG>CGGAGA |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307328 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307329 |
A>G,T |
Pathogenic |
Intron variant |
|
rs1085307330 |
A>G |
Pathogenic |
Intron variant |
|
rs1085307331 |
A>C,G |
Pathogenic |
Intron variant |
|
rs1085307332 |
A>G |
Pathogenic |
Intron variant |
|
rs1085307333 |
G>- |
Pathogenic |
Splice acceptor variant, coding sequence variant |
|
rs1085307334 |
->GGATT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307335 |
GTACCAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307336 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307337 |
CAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307338 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307339 |
G>CA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307340 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307342 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307343 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307344 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307345 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307346 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307347 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307348 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307349 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1085307350 |
A>T |
Pathogenic |
Intron variant |
|
rs1085307351 |
A>T |
Pathogenic |
Splice acceptor variant |
|
rs1085307352 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307353 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307354 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307355 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307356 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307357 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307358 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307359 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307360 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307361 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307362 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307363 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307364 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307365 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1085307366 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307369 |
->AC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307370 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307371 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307372 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1085307373 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307374 |
C>G,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
|
rs1085307375 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307376 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307377 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307378 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307379 |
AGCCCCG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307380 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307381 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307382 |
->TG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307383 |
GTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307384 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307385 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307386 |
->GT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307387 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307388 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307389 |
ACAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307390 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307391 |
ACCAACATAGTGACACA>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307392 |
->CA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307393 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307394 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307395 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307396 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307397 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307398 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307399 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307400 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307401 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307402 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1085307403 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1247070046 |
T>C,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1414031345 |
G>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs1553503200 |
->TACC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553503473 |
TTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTT |
Pathogenic |
Intron variant, coding sequence variant, splice acceptor variant |
|
rs1553508187 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1553508321 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs1553509983 |
->GA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553509984 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553509997 |
->GA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553512523 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1559062859 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1559070248 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1559073178 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1574415785 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574415799 |
GGCGGGTGCCCTGGCT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574462520 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574464056 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574464060 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574464121 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574464150 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574464160 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1574464226 |
CAGT>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant |
|
rs1574485996 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1574486038 |
->T |
Likely-pathogenic |
Splice donor variant |
|
rs1574486497 |
->ACCG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574486566 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574488277 |
G>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1574488314 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574488346 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574488353 |
AAAAGTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574488357 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574488412 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574488484 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574488490 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1574488501 |
->A |
Pathogenic |
Splice donor variant |
|
rs1574489046 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1574493773 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574493841 |
T>G |
Pathogenic |
Splice donor variant |
|
rs1574494547 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1574494582 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1574494632 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1574494655 |
->AGA |
Likely-pathogenic |
Coding sequence variant, inframe insertion |
|
rs1574499954 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1574500018 |
->TC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574505253 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1574505321 |
CTGAGGAAAGGATGGCTG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs1574505369 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574506470 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574506729 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574506732 |
->GA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574506781 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574506790 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1574506799 |
->ACCT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574506914 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1574506949 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574506976 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574507076 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574507124 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574507215 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1574507268 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574507272 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1574507276 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1574507290 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1574507331 |
TTACT>- |
Pathogenic |
Coding sequence variant, frameshift variant |