Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31816999A>C | CA363416240 | HSPA1A,HSPA1L | c.1243A>C (p.Lys415Gln) c.748A>C (p.Lys250Gln) c.-14+4014T>G (n.-14+4014T>G) | |
6 | g.31816999A>G | CA363416241 | HSPA1A,HSPA1L | c.1243A>G (p.Lys415Glu) c.748A>G (p.Lys250Glu) c.-14+4014T>C (n.-14+4014T>C) | |
6 | g.31816999A>T | CA363416244 | HSPA1A,HSPA1L | c.1243A>T (p.Lys415Ter) c.748A>T (p.Lys250Ter) c.-14+4014T>A (n.-14+4014T>A) | |
6 | g.31817000A>C | CA363416247 | HSPA1A,HSPA1L | c.1244A>C (p.Lys415Thr) c.749A>C (p.Lys250Thr) c.-14+4013T>G (n.-14+4013T>G) | |
6 | g.31817000A>G | CA363416248 | HSPA1A,HSPA1L | c.1244A>G (p.Lys415Arg) c.749A>G (p.Lys250Arg) c.-14+4013T>C (n.-14+4013T>C) | |
6 | g.31817000A>T | CA363416249 | HSPA1A,HSPA1L | c.1244A>T (p.Lys415Met) c.749A>T (p.Lys250Met) c.-14+4013T>A (n.-14+4013T>A) | |
6 | g.31817001G>A | CA449806184 | HSPA1A,HSPA1L | c.1245G>A (p.Lys415=) c.750G>A (p.Lys250=) c.-14+4012C>T (n.-14+4012C>T) | gnomAD v4 |
6 | g.31817001G>C | CA363416251 | HSPA1A,HSPA1L | c.1245G>C (p.Lys415Asn) c.750G>C (p.Lys250Asn) c.-14+4012C>G (n.-14+4012C>G) | |
6 | g.31817001G>T | CA363416255 | HSPA1A,HSPA1L | c.1245G>T (p.Lys415Asn) c.750G>T (p.Lys250Asn) c.-14+4012C>A (n.-14+4012C>A) | |
6 | g.31817002C>A | CA363416261 | HSPA1A,HSPA1L | c.1246C>A (p.Arg416Ser) c.751C>A (p.Arg251Ser) c.-14+4011G>T (n.-14+4011G>T) | |
6 | g.31817002C>G | CA363416274 | HSPA1A,HSPA1L | c.1246C>G (p.Arg416Gly) c.751C>G (p.Arg251Gly) c.-14+4011G>C (n.-14+4011G>C) | |
6 | g.31817002C>T | CA363416267 | HSPA1A,HSPA1L | c.1246C>T (p.Arg416Cys) c.751C>T (p.Arg251Cys) c.-14+4011G>A (n.-14+4011G>A) | gnomAD v4 |
6 | g.31817003G>A | CA363416284 | HSPA1A,HSPA1L | c.1247G>A (p.Arg416His) c.752G>A (p.Arg251His) c.-14+4010C>T (n.-14+4010C>T) | |
6 | g.31817003G>C | CA363416286 | HSPA1A,HSPA1L | c.1247G>C (p.Arg416Pro) c.752G>C (p.Arg251Pro) c.-14+4010C>G (n.-14+4010C>G) | |
6 | g.31817003G>T | CA363416288 | HSPA1A,HSPA1L | c.1247G>T (p.Arg416Leu) c.752G>T (p.Arg251Leu) c.-14+4010C>A (n.-14+4010C>A) | |
6 | g.31817004C>A | CA449806193 | HSPA1A,HSPA1L | c.1248C>A (p.Arg416=) c.753C>A (p.Arg251=) c.-14+4009G>T (n.-14+4009G>T) | |
6 | g.31817004C>G | CA449806195 | HSPA1A,HSPA1L | c.1248C>G (p.Arg416=) c.753C>G (p.Arg251=) c.-14+4009G>C (n.-14+4009G>C) | |
6 | g.31817004C>T | CA449806194 | HSPA1A,HSPA1L | c.1248C>T (p.Arg416=) c.753C>T (p.Arg251=) c.-14+4009G>A (n.-14+4009G>A) | |
6 | g.31817005A>C | CA363416294 | HSPA1A,HSPA1L | c.1249A>C (p.Asn417His) c.754A>C (p.Asn252His) c.-14+4008T>G (n.-14+4008T>G) | |
6 | g.31817005A>G | CA363416308 | HSPA1A,HSPA1L | c.1249A>G (p.Asn417Asp) c.754A>G (p.Asn252Asp) c.-14+4008T>C (n.-14+4008T>C) | |
6 | g.31817005A>T | CA363416319 | HSPA1A,HSPA1L | c.1249A>T (p.Asn417Tyr) c.754A>T (p.Asn252Tyr) c.-14+4008T>A (n.-14+4008T>A) | |
6 | g.31817006A>C | CA363416326 | HSPA1A,HSPA1L | c.1250A>C (p.Asn417Thr) c.755A>C (p.Asn252Thr) c.-14+4007T>G (n.-14+4007T>G) | |
6 | g.31817006A>G | CA363416328 | HSPA1A,HSPA1L | c.1250A>G (p.Asn417Ser) c.755A>G (p.Asn252Ser) c.-14+4007T>C (n.-14+4007T>C) | |
6 | g.31817006A>T | CA363416330 | HSPA1A,HSPA1L | c.1250A>T (p.Asn417Ile) c.755A>T (p.Asn252Ile) c.-14+4007T>A (n.-14+4007T>A) | |
6 | g.31817007C>A | CA363416334 | HSPA1A,HSPA1L | c.1251C>A (p.Asn417Lys) c.756C>A (p.Asn252Lys) c.-14+4006G>T (n.-14+4006G>T) | |
6 | g.31817007C>G | CA363416337 | HSPA1A,HSPA1L | c.1251C>G (p.Asn417Lys) c.756C>G (p.Asn252Lys) c.-14+4006G>C (n.-14+4006G>C) | |
6 | g.31817007C>T | CA449806199 | HSPA1A,HSPA1L | c.1251C>T (p.Asn417=) c.756C>T (p.Asn252=) c.-14+4006G>A (n.-14+4006G>A) | |
6 | g.31817008T>A | CA363416350 | HSPA1A,HSPA1L | c.1252T>A (p.Ser418Thr) c.757T>A (p.Ser253Thr) c.-14+4005A>T (n.-14+4005A>T) | |
6 | g.31817008T>C | CA363416345 | HSPA1A,HSPA1L | c.1252T>C (p.Ser418Pro) c.757T>C (p.Ser253Pro) c.-14+4005A>G (n.-14+4005A>G) | |
6 | g.31817008T>G | CA363416342 | HSPA1A,HSPA1L | c.1252T>G (p.Ser418Ala) c.757T>G (p.Ser253Ala) c.-14+4005A>C (n.-14+4005A>C) | |
6 | g.31817009C>A | CA363416356 | HSPA1A,HSPA1L | c.1253C>A (p.Ser418Tyr) c.758C>A (p.Ser253Tyr) c.-14+4004G>T (n.-14+4004G>T) | |
6 | g.31817009C>G | CA363416362 | HSPA1A,HSPA1L | c.1253C>G (p.Ser418Cys) c.758C>G (p.Ser253Cys) c.-14+4004G>C (n.-14+4004G>C) | |
6 | g.31817009C>T | CA363416363 | HSPA1A,HSPA1L | c.1253C>T (p.Ser418Phe) c.758C>T (p.Ser253Phe) c.-14+4004G>A (n.-14+4004G>A) | |
6 | g.31817010dup | CA2578570475 | HSPA1A,HSPA1L | c.1254dup (p.Thr419HisfsTer?) c.759dup (p.Thr254HisfsTer?) c.-14+4004dup (n.-14+4004dup) | |
6 | g.31817010C>A | CA449806204 | HSPA1A,HSPA1L | c.1254C>A (p.Ser418=) c.759C>A (p.Ser253=) c.-14+4003G>T (n.-14+4003G>T) | |
6 | g.31817010C>G | CA449806205 | HSPA1A,HSPA1L | c.1254C>G (p.Ser418=) c.759C>G (p.Ser253=) c.-14+4003G>C (n.-14+4003G>C) | |
6 | g.31817010C>T | CA449806207 | HSPA1A,HSPA1L | c.1254C>T (p.Ser418=) c.759C>T (p.Ser253=) c.-14+4003G>A (n.-14+4003G>A) | |
6 | g.31817011A>C | CA363416365 | HSPA1A,HSPA1L | c.1255A>C (p.Thr419Pro) c.760A>C (p.Thr254Pro) c.-14+4002T>G (n.-14+4002T>G) | |
6 | g.31817011A>G | CA363416368 | HSPA1A,HSPA1L | c.1255A>G (p.Thr419Ala) c.760A>G (p.Thr254Ala) c.-14+4002T>C (n.-14+4002T>C) | |
6 | g.31817011A>T | CA363416374 | HSPA1A,HSPA1L | c.1255A>T (p.Thr419Ser) c.760A>T (p.Thr254Ser) c.-14+4002T>A (n.-14+4002T>A) | |
6 | g.31817012C>A | CA363416382 | HSPA1A,HSPA1L | c.1256C>A (p.Thr419Asn) c.761C>A (p.Thr254Asn) c.-14+4001G>T (n.-14+4001G>T) | |
6 | g.31817012C>G | CA363416386 | HSPA1A,HSPA1L | c.1256C>G (p.Thr419Ser) c.761C>G (p.Thr254Ser) c.-14+4001G>C (n.-14+4001G>C) | |
6 | g.31817012C>T | CA363416392 | HSPA1A,HSPA1L | c.1256C>T (p.Thr419Ile) c.761C>T (p.Thr254Ile) c.-14+4001G>A (n.-14+4001G>A) | |
6 | g.31817013C>A | CA449806215 | HSPA1A,HSPA1L | c.1257C>A (p.Thr419=) c.762C>A (p.Thr254=) c.-14+4000G>T (n.-14+4000G>T) | |
6 | g.31817013C>G | CA449806217 | HSPA1A,HSPA1L | c.1257C>G (p.Thr419=) c.762C>G (p.Thr254=) c.-14+4000G>C (n.-14+4000G>C) | |
6 | g.31817013C>T | CA449806218 | HSPA1A,HSPA1L | c.1257C>T (p.Thr419=) c.762C>T (p.Thr254=) c.-14+4000G>A (n.-14+4000G>A) | gnomAD v4 |
6 | g.31817014A>C | CA363416405 | HSPA1A,HSPA1L | c.1258A>C (p.Ile420Leu) c.763A>C (p.Ile255Leu) c.-14+3999T>G (n.-14+3999T>G) | |
6 | g.31817014A>G | CA363416409 | HSPA1A,HSPA1L | c.1258A>G (p.Ile420Val) c.763A>G (p.Ile255Val) c.-14+3999T>C (n.-14+3999T>C) | |
6 | g.31817014A>T | CA363416410 | HSPA1A,HSPA1L | c.1258A>T (p.Ile420Phe) c.763A>T (p.Ile255Phe) c.-14+3999T>A (n.-14+3999T>A) | |
6 | g.31817015T>A | CA363416412 | HSPA1A,HSPA1L | c.1259T>A (p.Ile420Asn) c.764T>A (p.Ile255Asn) c.-14+3998A>T (n.-14+3998A>T) | |
6 | g.31817015T>C | CA363416414 | HSPA1A,HSPA1L | c.1259T>C (p.Ile420Thr) c.764T>C (p.Ile255Thr) c.-14+3998A>G (n.-14+3998A>G) | |
6 | g.31817015T>G | CA363416411 | HSPA1A,HSPA1L | c.1259T>G (p.Ile420Ser) c.764T>G (p.Ile255Ser) c.-14+3998A>C (n.-14+3998A>C) | |
6 | g.31817016C>A | CA449806222 | HSPA1A,HSPA1L | c.1260C>A (p.Ile420=) c.765C>A (p.Ile255=) c.-14+3997G>T (n.-14+3997G>T) | |
6 | g.31817016C>G | CA363416421 | HSPA1A,HSPA1L | c.1260C>G (p.Ile420Met) c.765C>G (p.Ile255Met) c.-14+3997G>C (n.-14+3997G>C) | |
6 | g.31817016C>T | CA449806223 | HSPA1A,HSPA1L | c.1260C>T (p.Ile420=) c.765C>T (p.Ile255=) c.-14+3997G>A (n.-14+3997G>A) | |
6 | g.31817017C>A | CA363416423 | HSPA1A,HSPA1L | c.1261C>A (p.Pro421Thr) c.766C>A (p.Pro256Thr) c.-14+3996G>T (n.-14+3996G>T) | |
6 | g.31817017C>G | CA363416424 | HSPA1A,HSPA1L | c.1261C>G (p.Pro421Ala) c.766C>G (p.Pro256Ala) c.-14+3996G>C (n.-14+3996G>C) | |
6 | g.31817017C>T | CA363416425 | HSPA1A,HSPA1L | c.1261C>T (p.Pro421Ser) c.766C>T (p.Pro256Ser) c.-14+3996G>A (n.-14+3996G>A) | |
6 | g.31817018C>A | CA363416429 | HSPA1A,HSPA1L | c.1262C>A (p.Pro421His) c.767C>A (p.Pro256His) c.-14+3995G>T (n.-14+3995G>T) | gnomAD v4 |
6 | g.31817018C>G | CA363416432 | HSPA1A,HSPA1L | c.1262C>G (p.Pro421Arg) c.767C>G (p.Pro256Arg) c.-14+3995G>C (n.-14+3995G>C) | |
6 | g.31817018C>T | CA363416444 | HSPA1A,HSPA1L | c.1262C>T (p.Pro421Leu) c.767C>T (p.Pro256Leu) c.-14+3995G>A (n.-14+3995G>A) | gnomAD v4 |
6 | g.31817019C>A | CA449806228 | HSPA1A,HSPA1L | c.1263C>A (p.Pro421=) c.768C>A (p.Pro256=) c.-14+3994G>T (n.-14+3994G>T) | |
6 | g.31817019C>G | CA449806229 | HSPA1A,HSPA1L | c.1263C>G (p.Pro421=) c.768C>G (p.Pro256=) c.-14+3994G>C (n.-14+3994G>C) | |
6 | g.31817019C>T | CA449806230 | HSPA1A,HSPA1L | c.1263C>T (p.Pro421=) c.768C>T (p.Pro256=) c.-14+3994G>A (n.-14+3994G>A) | |
6 | g.31817020A>C | CA363416454 | HSPA1A,HSPA1L | c.1264A>C (p.Thr422Pro) c.769A>C (p.Thr257Pro) c.-14+3993T>G (n.-14+3993T>G) | |
6 | g.31817020A>G | CA363416461 | HSPA1A,HSPA1L | c.1264A>G (p.Thr422Ala) c.769A>G (p.Thr257Ala) c.-14+3993T>C (n.-14+3993T>C) | |
6 | g.31817020A>T | CA363416465 | HSPA1A,HSPA1L | c.1264A>T (p.Thr422Ser) c.769A>T (p.Thr257Ser) c.-14+3993T>A (n.-14+3993T>A) | |
6 | g.31817021C>A | CA363416472 | HSPA1A,HSPA1L | c.1265C>A (p.Thr422Asn) c.770C>A (p.Thr257Asn) c.-14+3992G>T (n.-14+3992G>T) | |
6 | g.31817021C>G | CA363416475 | HSPA1A,HSPA1L | c.1265C>G (p.Thr422Ser) c.770C>G (p.Thr257Ser) c.-14+3992G>C (n.-14+3992G>C) | |
6 | g.31817021C>T | CA363416489 | HSPA1A,HSPA1L | c.1265C>T (p.Thr422Ile) c.770C>T (p.Thr257Ile) c.-14+3992G>A (n.-14+3992G>A) | |
6 | g.31817022C>A | CA449806236 | HSPA1A,HSPA1L | c.1266C>A (p.Thr422=) c.771C>A (p.Thr257=) c.-14+3991G>T (n.-14+3991G>T) | gnomAD v4 |
6 | g.31817022C>G | CA449806237 | HSPA1A,HSPA1L | c.1266C>G (p.Thr422=) c.771C>G (p.Thr257=) c.-14+3991G>C (n.-14+3991G>C) | |
6 | g.31817022C>T | CA449806238 | HSPA1A,HSPA1L | c.1266C>T (p.Thr422=) c.771C>T (p.Thr257=) c.-14+3991G>A (n.-14+3991G>A) | |
6 | g.31817023A>C | CA363416509 | HSPA1A,HSPA1L | c.1267A>C (p.Lys423Gln) c.772A>C (p.Lys258Gln) c.-14+3990T>G (n.-14+3990T>G) | |
6 | g.31817023A>G | CA363416505 | HSPA1A,HSPA1L | c.1267A>G (p.Lys423Glu) c.772A>G (p.Lys258Glu) c.-14+3990T>C (n.-14+3990T>C) | gnomAD v4 |
6 | g.31817023A>T | CA363416496 | HSPA1A,HSPA1L | c.1267A>T (p.Lys423Ter) c.772A>T (p.Lys258Ter) c.-14+3990T>A (n.-14+3990T>A) | |
6 | g.31817024A>C | CA363416512 | HSPA1A,HSPA1L | c.1268A>C (p.Lys423Thr) c.773A>C (p.Lys258Thr) c.-14+3989T>G (n.-14+3989T>G) | |
6 | g.31817024A>G | CA363416515 | HSPA1A,HSPA1L | c.1268A>G (p.Lys423Arg) c.773A>G (p.Lys258Arg) c.-14+3989T>C (n.-14+3989T>C) | |
6 | g.31817024A>T | CA363416519 | HSPA1A,HSPA1L | c.1268A>T (p.Lys423Met) c.773A>T (p.Lys258Met) c.-14+3989T>A (n.-14+3989T>A) | |
6 | g.31817025G>A | CA449806247 | HSPA1A,HSPA1L | c.1269G>A (p.Lys423=) c.774G>A (p.Lys258=) c.-14+3988C>T (n.-14+3988C>T) | |
6 | g.31817025G>C | CA363416526 | HSPA1A,HSPA1L | c.1269G>C (p.Lys423Asn) c.774G>C (p.Lys258Asn) c.-14+3988C>G (n.-14+3988C>G) | |
6 | g.31817025G>T | CA363416531 | HSPA1A,HSPA1L | c.1269G>T (p.Lys423Asn) c.774G>T (p.Lys258Asn) c.-14+3988C>A (n.-14+3988C>A) | |
6 | g.31817026C>A | CA363416538 | HSPA1A,HSPA1L | c.1270C>A (p.Gln424Lys) c.775C>A (p.Gln259Lys) c.-14+3987G>T (n.-14+3987G>T) | |
6 | g.31817026C>G | CA363416539 | HSPA1A,HSPA1L | c.1270C>G (p.Gln424Glu) c.775C>G (p.Gln259Glu) c.-14+3987G>C (n.-14+3987G>C) | |
6 | g.31817026C>T | CA363416540 | HSPA1A,HSPA1L | c.1270C>T (p.Gln424Ter) c.775C>T (p.Gln259Ter) c.-14+3987G>A (n.-14+3987G>A) | |
6 | g.31817027A>C | CA363416542 | HSPA1A,HSPA1L | c.1271A>C (p.Gln424Pro) c.776A>C (p.Gln259Pro) c.-14+3986T>G (n.-14+3986T>G) | |
6 | g.31817027A>G | CA363416545 | HSPA1A,HSPA1L | c.1271A>G (p.Gln424Arg) c.776A>G (p.Gln259Arg) c.-14+3986T>C (n.-14+3986T>C) | |
6 | g.31817027A>T | CA363416553 | HSPA1A,HSPA1L | c.1271A>T (p.Gln424Leu) c.776A>T (p.Gln259Leu) c.-14+3986T>A (n.-14+3986T>A) | |
6 | g.31817028G>A | CA449806256 | HSPA1A,HSPA1L | c.1272G>A (p.Gln424=) c.777G>A (p.Gln259=) c.-14+3985C>T (n.-14+3985C>T) | |
6 | g.31817028G>C | CA363416565 | HSPA1A,HSPA1L | c.1272G>C (p.Gln424His) c.777G>C (p.Gln259His) c.-14+3985C>G (n.-14+3985C>G) | |
6 | g.31817028G>T | CA363416582 | HSPA1A,HSPA1L | c.1272G>T (p.Gln424His) c.777G>T (p.Gln259His) c.-14+3985C>A (n.-14+3985C>A) | |
6 | g.31817029A>C | CA363416587 | HSPA1A,HSPA1L | c.1273A>C (p.Thr425Pro) c.778A>C (p.Thr260Pro) c.-14+3984T>G (n.-14+3984T>G) | |
6 | g.31817029A>G | CA363416598 | HSPA1A,HSPA1L | c.1273A>G (p.Thr425Ala) c.778A>G (p.Thr260Ala) c.-14+3984T>C (n.-14+3984T>C) | |
6 | g.31817029A>T | CA363416593 | HSPA1A,HSPA1L | c.1273A>T (p.Thr425Ser) c.778A>T (p.Thr260Ser) c.-14+3984T>A (n.-14+3984T>A) | |
6 | g.31817030C>A | CA363416599 | HSPA1A,HSPA1L | c.1274C>A (p.Thr425Lys) c.779C>A (p.Thr260Lys) c.-14+3983G>T (n.-14+3983G>T) | |
6 | g.31817030C>G | CA363416604 | HSPA1A,HSPA1L | c.1274C>G (p.Thr425Arg) c.779C>G (p.Thr260Arg) c.-14+3983G>C (n.-14+3983G>C) | |
6 | g.31817030C>T | CA363416602 | HSPA1A,HSPA1L | c.1274C>T (p.Thr425Met) c.779C>T (p.Thr260Met) c.-14+3983G>A (n.-14+3983G>A) | gnomAD v4 |
6 | g.31817031G>A | CA449806264 | HSPA1A,HSPA1L | c.1275G>A (p.Thr425=) c.780G>A (p.Thr260=) c.-14+3982C>T (n.-14+3982C>T) | gnomAD v4 |
6 | g.31817031G>C | CA449806265 | HSPA1A,HSPA1L | c.1275G>C (p.Thr425=) c.780G>C (p.Thr260=) c.-14+3982C>G (n.-14+3982C>G) | gnomAD v4 |
6 | g.31817031G>T | CA449806266 | HSPA1A,HSPA1L | c.1275G>T (p.Thr425=) c.780G>T (p.Thr260=) c.-14+3982C>A (n.-14+3982C>A) | |
6 | g.31817032C>A | CA363416609 | HSPA1A,HSPA1L | c.1276C>A (p.Gln426Lys) c.781C>A (p.Gln261Lys) c.-14+3981G>T (n.-14+3981G>T) | |
6 | g.31817032C= | CA1619307565 | HSPA1A,HSPA1L | c.1276C= (p.Gln426=) c.781C= (p.Gln261=) c.-14+3981G= (n.-14+3981G=) | |
6 | g.31817032C>G | CA363416638 | HSPA1A,HSPA1L | c.1276C>G (p.Gln426Glu) c.781C>G (p.Gln261Glu) c.-14+3981G>C (n.-14+3981G>C) | |
6 | g.31817032C>T | CA363416629 | HSPA1A,HSPA1L | c.1276C>T (p.Gln426Ter) c.781C>T (p.Gln261Ter) c.-14+3981G>A (n.-14+3981G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817033A>C | CA363416639 | HSPA1A,HSPA1L | c.1277A>C (p.Gln426Pro) c.782A>C (p.Gln261Pro) c.-14+3980T>G (n.-14+3980T>G) | |
6 | g.31817033A>G | CA363416640 | HSPA1A,HSPA1L | c.1277A>G (p.Gln426Arg) c.782A>G (p.Gln261Arg) c.-14+3980T>C (n.-14+3980T>C) | |
6 | g.31817033A>T | CA363416642 | HSPA1A,HSPA1L | c.1277A>T (p.Gln426Leu) c.782A>T (p.Gln261Leu) c.-14+3980T>A (n.-14+3980T>A) | |
6 | g.31817034G>A | CA449806271 | HSPA1A,HSPA1L | c.1278G>A (p.Gln426=) c.783G>A (p.Gln261=) c.-14+3979C>T (n.-14+3979C>T) | gnomAD v4 |
6 | g.31817034G>C | CA363416657 | HSPA1A,HSPA1L | c.1278G>C (p.Gln426His) c.783G>C (p.Gln261His) c.-14+3979C>G (n.-14+3979C>G) | gnomAD v4 |
6 | g.31817034G>T | CA363416663 | HSPA1A,HSPA1L | c.1278G>T (p.Gln426His) c.783G>T (p.Gln261His) c.-14+3979C>A (n.-14+3979C>A) | |
6 | g.31817035A>C | CA363416670 | HSPA1A,HSPA1L | c.1279A>C (p.Ile427Leu) c.784A>C (p.Ile262Leu) c.-14+3978T>G (n.-14+3978T>G) | |
6 | g.31817035A>G | CA363416671 | HSPA1A,HSPA1L | c.1279A>G (p.Ile427Val) c.784A>G (p.Ile262Val) c.-14+3978T>C (n.-14+3978T>C) | gnomAD v4 |
6 | g.31817035A>T | CA363416678 | HSPA1A,HSPA1L | c.1279A>T (p.Ile427Phe) c.784A>T (p.Ile262Phe) c.-14+3978T>A (n.-14+3978T>A) | |
6 | g.31817036T>A | CA363416685 | HSPA1A,HSPA1L | c.1280T>A (p.Ile427Asn) c.785T>A (p.Ile262Asn) c.-14+3977A>T (n.-14+3977A>T) | |
6 | g.31817036T>C | CA363416693 | HSPA1A,HSPA1L | c.1280T>C (p.Ile427Thr) c.785T>C (p.Ile262Thr) c.-14+3977A>G (n.-14+3977A>G) | |
6 | g.31817036T>G | CA363416708 | HSPA1A,HSPA1L | c.1280T>G (p.Ile427Ser) c.785T>G (p.Ile262Ser) c.-14+3977A>C (n.-14+3977A>C) | |
6 | g.31817037C>A | CA449806276 | HSPA1A,HSPA1L | c.1281C>A (p.Ile427=) c.786C>A (p.Ile262=) c.-14+3976G>T (n.-14+3976G>T) | |
6 | g.31817037C>G | CA363416715 | HSPA1A,HSPA1L | c.1281C>G (p.Ile427Met) c.786C>G (p.Ile262Met) c.-14+3976G>C (n.-14+3976G>C) | |
6 | g.31817037C>T | CA449806280 | HSPA1A,HSPA1L | c.1281C>T (p.Ile427=) c.786C>T (p.Ile262=) c.-14+3976G>A (n.-14+3976G>A) | |
6 | g.31817038T>A | CA363416726 | HSPA1A,HSPA1L | c.1282T>A (p.Phe428Ile) c.787T>A (p.Phe263Ile) c.-14+3975A>T (n.-14+3975A>T) | |
6 | g.31817038T>C | CA363416744 | HSPA1A,HSPA1L | c.1282T>C (p.Phe428Leu) c.787T>C (p.Phe263Leu) c.-14+3975A>G (n.-14+3975A>G) | |
6 | g.31817038T>G | CA363416750 | HSPA1A,HSPA1L | c.1282T>G (p.Phe428Val) c.787T>G (p.Phe263Val) c.-14+3975A>C (n.-14+3975A>C) | |
6 | g.31817039T>A | CA363416767 | HSPA1A,HSPA1L | c.1283T>A (p.Phe428Tyr) c.788T>A (p.Phe263Tyr) c.-14+3974A>T (n.-14+3974A>T) | |
6 | g.31817039T>C | CA363416775 | HSPA1A,HSPA1L | c.1283T>C (p.Phe428Ser) c.788T>C (p.Phe263Ser) c.-14+3974A>G (n.-14+3974A>G) | |
6 | g.31817039T>G | CA363416776 | HSPA1A,HSPA1L | c.1283T>G (p.Phe428Cys) c.788T>G (p.Phe263Cys) c.-14+3974A>C (n.-14+3974A>C) | |
6 | g.31817040C>A | CA363416782 | HSPA1A,HSPA1L | c.1284C>A (p.Phe428Leu) c.789C>A (p.Phe263Leu) c.-14+3973G>T (n.-14+3973G>T) | |
6 | g.31817040C>G | CA363416788 | HSPA1A,HSPA1L | c.1284C>G (p.Phe428Leu) c.789C>G (p.Phe263Leu) c.-14+3973G>C (n.-14+3973G>C) | |
6 | g.31817040C>T | CA449806290 | HSPA1A,HSPA1L | c.1284C>T (p.Phe428=) c.789C>T (p.Phe263=) c.-14+3973G>A (n.-14+3973G>A) | |
6 | g.31817041A>C | CA363416796 | HSPA1A,HSPA1L | c.1285A>C (p.Thr429Pro) c.790A>C (p.Thr264Pro) c.-14+3972T>G (n.-14+3972T>G) | |
6 | g.31817041A>G | CA363416797 | HSPA1A,HSPA1L | c.1285A>G (p.Thr429Ala) c.790A>G (p.Thr264Ala) c.-14+3972T>C (n.-14+3972T>C) | gnomAD v4 |
6 | g.31817041A>T | CA363416798 | HSPA1A,HSPA1L | c.1285A>T (p.Thr429Ser) c.790A>T (p.Thr264Ser) c.-14+3972T>A (n.-14+3972T>A) | |
6 | g.31817042C>A | CA363416816 | HSPA1A,HSPA1L | c.1286C>A (p.Thr429Asn) c.791C>A (p.Thr264Asn) c.-14+3971G>T (n.-14+3971G>T) | |
6 | g.31817042C>G | CA363416821 | HSPA1A,HSPA1L | c.1286C>G (p.Thr429Ser) c.791C>G (p.Thr264Ser) c.-14+3971G>C (n.-14+3971G>C) | |
6 | g.31817042C>T | CA363416805 | HSPA1A,HSPA1L | c.1286C>T (p.Thr429Ile) c.791C>T (p.Thr264Ile) c.-14+3971G>A (n.-14+3971G>A) | gnomAD v4 |
6 | g.31817043C>A | CA449806296 | HSPA1A,HSPA1L | c.1287C>A (p.Thr429=) c.792C>A (p.Thr264=) c.-14+3970G>T (n.-14+3970G>T) | |
6 | g.31817043C>G | CA449806298 | HSPA1A,HSPA1L | c.1287C>G (p.Thr429=) c.792C>G (p.Thr264=) c.-14+3970G>C (n.-14+3970G>C) | |
6 | g.31817043C>T | CA449806300 | HSPA1A,HSPA1L | c.1287C>T (p.Thr429=) c.792C>T (p.Thr264=) c.-14+3970G>A (n.-14+3970G>A) | |
6 | g.31817044A>C | CA363416824 | HSPA1A,HSPA1L | c.1288A>C (p.Thr430Pro) c.793A>C (p.Thr265Pro) c.-14+3969T>G (n.-14+3969T>G) | |
6 | g.31817044A>G | CA363416825 | HSPA1A,HSPA1L | c.1288A>G (p.Thr430Ala) c.793A>G (p.Thr265Ala) c.-14+3969T>C (n.-14+3969T>C) | |
6 | g.31817044A>T | CA363416839 | HSPA1A,HSPA1L | c.1288A>T (p.Thr430Ser) c.793A>T (p.Thr265Ser) c.-14+3969T>A (n.-14+3969T>A) | |
6 | g.31817045C>A | CA363416845 | HSPA1A,HSPA1L | c.1289C>A (p.Thr430Asn) c.794C>A (p.Thr265Asn) c.-14+3968G>T (n.-14+3968G>T) | |
6 | g.31817045C>G | CA363416847 | HSPA1A,HSPA1L | c.1289C>G (p.Thr430Ser) c.794C>G (p.Thr265Ser) c.-14+3968G>C (n.-14+3968G>C) | |
6 | g.31817045C>T | CA363416853 | HSPA1A,HSPA1L | c.1289C>T (p.Thr430Ile) c.794C>T (p.Thr265Ile) c.-14+3968G>A (n.-14+3968G>A) | |
6 | g.31817046C>A | CA449806311 | HSPA1A,HSPA1L | c.1290C>A (p.Thr430=) c.795C>A (p.Thr265=) c.-14+3967G>T (n.-14+3967G>T) | |
6 | g.31817046C>G | CA449806313 | HSPA1A,HSPA1L | c.1290C>G (p.Thr430=) c.795C>G (p.Thr265=) c.-14+3967G>C (n.-14+3967G>C) | |
6 | g.31817046C>T | CA449806312 | HSPA1A,HSPA1L | c.1290C>T (p.Thr430=) c.795C>T (p.Thr265=) c.-14+3967G>A (n.-14+3967G>A) | |
6 | g.31817047T>A | CA363416860 | HSPA1A,HSPA1L | c.1291T>A (p.Tyr431Asn) c.796T>A (p.Tyr266Asn) c.-14+3966A>T (n.-14+3966A>T) | |
6 | g.31817047T>C | CA363416861 | HSPA1A,HSPA1L | c.1291T>C (p.Tyr431His) c.796T>C (p.Tyr266His) c.-14+3966A>G (n.-14+3966A>G) | |
6 | g.31817047T>G | CA363416862 | HSPA1A,HSPA1L | c.1291T>G (p.Tyr431Asp) c.796T>G (p.Tyr266Asp) c.-14+3966A>C (n.-14+3966A>C) | |
6 | g.31817048A>C | CA363416864 | HSPA1A,HSPA1L | c.1292A>C (p.Tyr431Ser) c.797A>C (p.Tyr266Ser) c.-14+3965T>G (n.-14+3965T>G) | |
6 | g.31817048A>G | CA363416866 | HSPA1A,HSPA1L | c.1292A>G (p.Tyr431Cys) c.797A>G (p.Tyr266Cys) c.-14+3965T>C (n.-14+3965T>C) | |
6 | g.31817048A>T | CA363416868 | HSPA1A,HSPA1L | c.1292A>T (p.Tyr431Phe) c.797A>T (p.Tyr266Phe) c.-14+3965T>A (n.-14+3965T>A) | |
6 | g.31817049C>A | CA363416881 | HSPA1A,HSPA1L | c.1293C>A (p.Tyr431Ter) c.798C>A (p.Tyr266Ter) c.-14+3964G>T (n.-14+3964G>T) | gnomAD v4 |
6 | g.31817049C>G | CA363416874 | HSPA1A,HSPA1L | c.1293C>G (p.Tyr431Ter) c.798C>G (p.Tyr266Ter) c.-14+3964G>C (n.-14+3964G>C) | |
6 | g.31817049C>T | CA449806320 | HSPA1A,HSPA1L | c.1293C>T (p.Tyr431=) c.798C>T (p.Tyr266=) c.-14+3964G>A (n.-14+3964G>A) | |
6 | g.31817050T>A | CA363416894 | HSPA1A,HSPA1L | c.1294T>A (p.Ser432Thr) c.799T>A (p.Ser267Thr) c.-14+3963A>T (n.-14+3963A>T) | |
6 | g.31817050T>C | CA363416913 | HSPA1A,HSPA1L | c.1294T>C (p.Ser432Pro) c.799T>C (p.Ser267Pro) c.-14+3963A>G (n.-14+3963A>G) | |
6 | g.31817050T>G | CA363416918 | HSPA1A,HSPA1L | c.1294T>G (p.Ser432Ala) c.799T>G (p.Ser267Ala) c.-14+3963A>C (n.-14+3963A>C) | |
6 | g.31817051C>A | CA363416945 | HSPA1A,HSPA1L | c.1295C>A (p.Ser432Tyr) c.800C>A (p.Ser267Tyr) c.-14+3962G>T (n.-14+3962G>T) | |
6 | g.31817051C>G | CA363416956 | HSPA1A,HSPA1L | c.1295C>G (p.Ser432Cys) c.800C>G (p.Ser267Cys) c.-14+3962G>C (n.-14+3962G>C) | |
6 | g.31817051C>T | CA363416959 | HSPA1A,HSPA1L | c.1295C>T (p.Ser432Phe) c.800C>T (p.Ser267Phe) c.-14+3962G>A (n.-14+3962G>A) | |
6 | g.31817052dup | CA2711458853 | HSPA1A,HSPA1L | c.1296dup (p.Asp433ArgfsTer?) c.801dup (p.Asp268ArgfsTer?) c.-14+3962dup (n.-14+3962dup) | dbSNP |
6 | g.31817052C>A | CA449806326 | HSPA1A,HSPA1L | c.1296C>A (p.Ser432=) c.801C>A (p.Ser267=) c.-14+3961G>T (n.-14+3961G>T) | |
6 | g.31817052C>G | CA449806328 | HSPA1A,HSPA1L | c.1296C>G (p.Ser432=) c.801C>G (p.Ser267=) c.-14+3961G>C (n.-14+3961G>C) | |
6 | g.31817052C>T | CA449806330 | HSPA1A,HSPA1L | c.1296C>T (p.Ser432=) c.801C>T (p.Ser267=) c.-14+3961G>A (n.-14+3961G>A) | gnomAD v4 |
6 | g.31817053G>A | CA363416964 | HSPA1A,HSPA1L | c.1297G>A (p.Asp433Asn) c.802G>A (p.Asp268Asn) c.-14+3960C>T (n.-14+3960C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817053G>C | CA363416981 | HSPA1A,HSPA1L | c.1297G>C (p.Asp433His) c.802G>C (p.Asp268His) c.-14+3960C>G (n.-14+3960C>G) | |
6 | g.31817053G= | CA1619307566 | HSPA1A,HSPA1L | c.1297G= (p.Asp433=) c.802G= (p.Asp268=) c.-14+3960C= (n.-14+3960C=) | |
6 | g.31817053G>T | CA363416986 | HSPA1A,HSPA1L | c.1297G>T (p.Asp433Tyr) c.802G>T (p.Asp268Tyr) c.-14+3960C>A (n.-14+3960C>A) | |
6 | g.31817054A>C | CA363416996 | HSPA1A,HSPA1L | c.1298A>C (p.Asp433Ala) c.803A>C (p.Asp268Ala) c.-14+3959T>G (n.-14+3959T>G) | |
6 | g.31817054A>G | CA363417002 | HSPA1A,HSPA1L | c.1298A>G (p.Asp433Gly) c.803A>G (p.Asp268Gly) c.-14+3959T>C (n.-14+3959T>C) | gnomAD v4 |
6 | g.31817054A>T | CA363417012 | HSPA1A,HSPA1L | c.1298A>T (p.Asp433Val) c.803A>T (p.Asp268Val) c.-14+3959T>A (n.-14+3959T>A) | |
6 | g.31817055C>A | CA363417018 | HSPA1A,HSPA1L | c.1299C>A (p.Asp433Glu) c.804C>A (p.Asp268Glu) c.-14+3958G>T (n.-14+3958G>T) | |
6 | g.31817055C>G | CA363417019 | HSPA1A,HSPA1L | c.1299C>G (p.Asp433Glu) c.804C>G (p.Asp268Glu) c.-14+3958G>C (n.-14+3958G>C) | |
6 | g.31817055C>T | CA449806333 | HSPA1A,HSPA1L | c.1299C>T (p.Asp433=) c.804C>T (p.Asp268=) c.-14+3958G>A (n.-14+3958G>A) | |
6 | g.31817056A>C | CA363417022 | HSPA1A,HSPA1L | c.1300A>C (p.Asn434His) c.805A>C (p.Asn269His) c.-14+3957T>G (n.-14+3957T>G) | |
6 | g.31817056A>G | CA363417030 | HSPA1A,HSPA1L | c.1300A>G (p.Asn434Asp) c.805A>G (p.Asn269Asp) c.-14+3957T>C (n.-14+3957T>C) | |
6 | g.31817056A>T | CA363417021 | HSPA1A,HSPA1L | c.1300A>T (p.Asn434Tyr) c.805A>T (p.Asn269Tyr) c.-14+3957T>A (n.-14+3957T>A) | |
6 | g.31817057A= | CA1619307567 | HSPA1A,HSPA1L | c.1301A= (p.Asn434=) c.806A= (p.Asn269=) c.-14+3956T= (n.-14+3956T=) | |
6 | g.31817057A>C | CA363417038 | HSPA1A,HSPA1L | c.1301A>C (p.Asn434Thr) c.806A>C (p.Asn269Thr) c.-14+3956T>G (n.-14+3956T>G) | |
6 | g.31817057A>G | CA363417033 | HSPA1A,HSPA1L | c.1301A>G (p.Asn434Ser) c.806A>G (p.Asn269Ser) c.-14+3956T>C (n.-14+3956T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817057A>T | CA363417035 | HSPA1A,HSPA1L | c.1301A>T (p.Asn434Ile) c.806A>T (p.Asn269Ile) c.-14+3956T>A (n.-14+3956T>A) | |
6 | g.31817058C>A | CA363417042 | HSPA1A,HSPA1L | c.1302C>A (p.Asn434Lys) c.807C>A (p.Asn269Lys) c.-14+3955G>T (n.-14+3955G>T) | |
6 | g.31817058C>G | CA363417048 | HSPA1A,HSPA1L | c.1302C>G (p.Asn434Lys) c.807C>G (p.Asn269Lys) c.-14+3955G>C (n.-14+3955G>C) | gnomAD v4 |
6 | g.31817058C>T | CA449806339 | HSPA1A,HSPA1L | c.1302C>T (p.Asn434=) c.807C>T (p.Asn269=) c.-14+3955G>A (n.-14+3955G>A) | |
6 | g.31817059dup | CA823903352 | HSPA1A,HSPA1L | c.1303dup (p.Gln435ProfsTer?) c.808dup (p.Gln270ProfsTer?) c.-14+3955dup (n.-14+3955dup) | dbSNP |
6 | g.31817059C>A | CA363417061 | HSPA1A,HSPA1L | c.1303C>A (p.Gln435Lys) c.808C>A (p.Gln270Lys) c.-14+3954G>T (n.-14+3954G>T) | |
6 | g.31817059C= | CA1619307568 | HSPA1A,HSPA1L | c.1303C= (p.Gln435=) c.808C= (p.Gln270=) c.-14+3954G= (n.-14+3954G=) | |
6 | g.31817059C>G | CA363417069 | HSPA1A,HSPA1L | c.1303C>G (p.Gln435Glu) c.808C>G (p.Gln270Glu) c.-14+3954G>C (n.-14+3954G>C) | |
6 | g.31817059C>T | CA363417080 | HSPA1A,HSPA1L | c.1303C>T (p.Gln435Ter) c.808C>T (p.Gln270Ter) c.-14+3954G>A (n.-14+3954G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817060A>C | CA363417091 | HSPA1A,HSPA1L | c.1304A>C (p.Gln435Pro) c.809A>C (p.Gln270Pro) c.-14+3953T>G (n.-14+3953T>G) | |
6 | g.31817060A>G | CA363417097 | HSPA1A,HSPA1L | c.1304A>G (p.Gln435Arg) c.809A>G (p.Gln270Arg) c.-14+3953T>C (n.-14+3953T>C) | |
6 | g.31817060A>T | CA363417101 | HSPA1A,HSPA1L | c.1304A>T (p.Gln435Leu) c.809A>T (p.Gln270Leu) c.-14+3953T>A (n.-14+3953T>A) | |
6 | g.31817061A>C | CA363417102 | HSPA1A,HSPA1L | c.1305A>C (p.Gln435His) c.810A>C (p.Gln270His) c.-14+3952T>G (n.-14+3952T>G) | |
6 | g.31817061A>G | CA449806341 | HSPA1A,HSPA1L | c.1305A>G (p.Gln435=) c.810A>G (p.Gln270=) c.-14+3952T>C (n.-14+3952T>C) | gnomAD v4 |
6 | g.31817061A>T | CA363417103 | HSPA1A,HSPA1L | c.1305A>T (p.Gln435His) c.810A>T (p.Gln270His) c.-14+3952T>A (n.-14+3952T>A) | |
6 | g.31817062C>A | CA363417125 | HSPA1A,HSPA1L | c.1306C>A (p.Pro436Thr) c.811C>A (p.Pro271Thr) c.-14+3951G>T (n.-14+3951G>T) | |
6 | g.31817062C= | CA1619307569 | HSPA1A,HSPA1L | c.1306C= (p.Pro436=) c.811C= (p.Pro271=) c.-14+3951G= (n.-14+3951G=) | |
6 | g.31817062C>G | CA363417105 | HSPA1A,HSPA1L | c.1306C>G (p.Pro436Ala) c.811C>G (p.Pro271Ala) c.-14+3951G>C (n.-14+3951G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817062C>T | CA363417119 | HSPA1A,HSPA1L | c.1306C>T (p.Pro436Ser) c.811C>T (p.Pro271Ser) c.-14+3951G>A (n.-14+3951G>A) | |
6 | g.31817064del | CA2678045104 | HSPA1A,HSPA1L | c.1308del (p.Val438CysfsTer2) c.813del (p.Val273CysfsTer2) c.-14+3951del (n.-14+3951del) | gnomAD v4 |
6 | g.31817063C>A | CA363417128 | HSPA1A,HSPA1L | c.1307C>A (p.Pro436His) c.812C>A (p.Pro271His) c.-14+3950G>T (n.-14+3950G>T) | |
6 | g.31817063C>G | CA363417130 | HSPA1A,HSPA1L | c.1307C>G (p.Pro436Arg) c.812C>G (p.Pro271Arg) c.-14+3950G>C (n.-14+3950G>C) | |
6 | g.31817063C>T | CA363417132 | HSPA1A,HSPA1L | c.1307C>T (p.Pro436Leu) c.812C>T (p.Pro271Leu) c.-14+3950G>A (n.-14+3950G>A) | |
6 | g.31817064C>A | CA449806347 | HSPA1A,HSPA1L | c.1308C>A (p.Pro436=) c.813C>A (p.Pro271=) c.-14+3949G>T (n.-14+3949G>T) | |
6 | g.31817064C>G | CA449806350 | HSPA1A,HSPA1L | c.1308C>G (p.Pro436=) c.813C>G (p.Pro271=) c.-14+3949G>C (n.-14+3949G>C) | |
6 | g.31817064C>T | CA449806349 | HSPA1A,HSPA1L | c.1308C>T (p.Pro436=) c.813C>T (p.Pro271=) c.-14+3949G>A (n.-14+3949G>A) | |
6 | g.31817065G>A | CA363417135 | HSPA1A,HSPA1L | c.1309G>A (p.Gly437Arg) c.814G>A (p.Gly272Arg) c.-14+3948C>T (n.-14+3948C>T) | gnomAD v4 |
6 | g.31817065G>C | CA363417138 | HSPA1A,HSPA1L | c.1309G>C (p.Gly437Arg) c.814G>C (p.Gly272Arg) c.-14+3948C>G (n.-14+3948C>G) | |
6 | g.31817065G>T | CA363417143 | HSPA1A,HSPA1L | c.1309G>T (p.Gly437Trp) c.814G>T (p.Gly272Trp) c.-14+3948C>A (n.-14+3948C>A) | |
6 | g.31817066G>A | CA363417146 | HSPA1A,HSPA1L | c.1310G>A (p.Gly437Glu) c.815G>A (p.Gly272Glu) c.-14+3947C>T (n.-14+3947C>T) | dbSNP gnomAD v4 |
6 | g.31817066G>C | CA363417150 | HSPA1A,HSPA1L | c.1310G>C (p.Gly437Ala) c.815G>C (p.Gly272Ala) c.-14+3947C>G (n.-14+3947C>G) | |
6 | g.31817066G= | CA1619307570 | HSPA1A,HSPA1L | c.1310G= (p.Gly437=) c.815G= (p.Gly272=) c.-14+3947C= (n.-14+3947C=) | |
6 | g.31817066G>T | CA363417155 | HSPA1A,HSPA1L | c.1310G>T (p.Gly437Val) c.815G>T (p.Gly272Val) c.-14+3947C>A (n.-14+3947C>A) | |
6 | g.31817067G>A | CA449806353 | HSPA1A,HSPA1L | c.1311G>A (p.Gly437=) c.816G>A (p.Gly272=) c.-14+3946C>T (n.-14+3946C>T) | |
6 | g.31817067G>C | CA449806354 | HSPA1A,HSPA1L | c.1311G>C (p.Gly437=) c.816G>C (p.Gly272=) c.-14+3946C>G (n.-14+3946C>G) | |
6 | g.31817067G>T | CA449806355 | HSPA1A,HSPA1L | c.1311G>T (p.Gly437=) c.816G>T (p.Gly272=) c.-14+3946C>A (n.-14+3946C>A) | |
6 | g.31817068G>A | CA363417159 | HSPA1A,HSPA1L | c.1312G>A (p.Val438Met) c.817G>A (p.Val273Met) c.-14+3945C>T (n.-14+3945C>T) | |
6 | g.31817068G>C | CA363417160 | HSPA1A,HSPA1L | c.1312G>C (p.Val438Leu) c.817G>C (p.Val273Leu) c.-14+3945C>G (n.-14+3945C>G) | |
6 | g.31817068G>T | CA363417161 | HSPA1A,HSPA1L | c.1312G>T (p.Val438Leu) c.817G>T (p.Val273Leu) c.-14+3945C>A (n.-14+3945C>A) | |
6 | g.31817069T>A | CA363417183 | HSPA1A,HSPA1L | c.1313T>A (p.Val438Glu) c.818T>A (p.Val273Glu) c.-14+3944A>T (n.-14+3944A>T) | |
6 | g.31817069T>C | CA363417187 | HSPA1A,HSPA1L | c.1313T>C (p.Val438Ala) c.818T>C (p.Val273Ala) c.-14+3944A>G (n.-14+3944A>G) | |
6 | g.31817069T>G | CA363417171 | HSPA1A,HSPA1L | c.1313T>G (p.Val438Gly) c.818T>G (p.Val273Gly) c.-14+3944A>C (n.-14+3944A>C) | |
6 | g.31817070G>A | CA449806359 | HSPA1A,HSPA1L | c.1314G>A (p.Val438=) c.819G>A (p.Val273=) c.-14+3943C>T (n.-14+3943C>T) | |
6 | g.31817070G>C | CA449806360 | HSPA1A,HSPA1L | c.1314G>C (p.Val438=) c.819G>C (p.Val273=) c.-14+3943C>G (n.-14+3943C>G) | |
6 | g.31817070G>T | CA449806361 | HSPA1A,HSPA1L | c.1314G>T (p.Val438=) c.819G>T (p.Val273=) c.-14+3943C>A (n.-14+3943C>A) | |
6 | g.31817071del | CA2578570476 | HSPA1A,HSPA1L | c.1315del (p.Leu439Ter) c.820del (p.Leu274Ter) c.-14+3942del (n.-14+3942del) | |
6 | g.31817071C>A | CA363417193 | HSPA1A,HSPA1L | c.1315C>A (p.Leu439Met) c.820C>A (p.Leu274Met) c.-14+3942G>T (n.-14+3942G>T) | |
6 | g.31817071C= | CA1619307571 | HSPA1A,HSPA1L | c.1315C= (p.Leu439=) c.820C= (p.Leu274=) c.-14+3942G= (n.-14+3942G=) | |
6 | g.31817071C>G | CA363417196 | HSPA1A,HSPA1L | c.1315C>G (p.Leu439Val) c.820C>G (p.Leu274Val) c.-14+3942G>C (n.-14+3942G>C) | |
6 | g.31817071C>T | CA449806362 | HSPA1A,HSPA1L | c.1315C>T (p.Leu439=) c.820C>T (p.Leu274=) c.-14+3942G>A (n.-14+3942G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817072T>A | CA363417198 | HSPA1A,HSPA1L | c.1316T>A (p.Leu439Gln) c.821T>A (p.Leu274Gln) c.-14+3941A>T (n.-14+3941A>T) | |
6 | g.31817072T>C | CA363417209 | HSPA1A,HSPA1L | c.1316T>C (p.Leu439Pro) c.821T>C (p.Leu274Pro) c.-14+3941A>G (n.-14+3941A>G) | |
6 | g.31817072T>G | CA363417220 | HSPA1A,HSPA1L | c.1316T>G (p.Leu439Arg) c.821T>G (p.Leu274Arg) c.-14+3941A>C (n.-14+3941A>C) | |
6 | g.31817073G>A | CA449806364 | HSPA1A,HSPA1L | c.1317G>A (p.Leu439=) c.822G>A (p.Leu274=) c.-14+3940C>T (n.-14+3940C>T) | |
6 | g.31817073G>C | CA449806365 | HSPA1A,HSPA1L | c.1317G>C (p.Leu439=) c.822G>C (p.Leu274=) c.-14+3940C>G (n.-14+3940C>G) | |
6 | g.31817073G>T | CA449806366 | HSPA1A,HSPA1L | c.1317G>T (p.Leu439=) c.822G>T (p.Leu274=) c.-14+3940C>A (n.-14+3940C>A) | |
6 | g.31817074A>C | CA363417228 | HSPA1A,HSPA1L | c.1318A>C (p.Ile440Leu) c.823A>C (p.Ile275Leu) c.-14+3939T>G (n.-14+3939T>G) | |
6 | g.31817074A>G | CA363417233 | HSPA1A,HSPA1L | c.1318A>G (p.Ile440Val) c.823A>G (p.Ile275Val) c.-14+3939T>C (n.-14+3939T>C) | |
6 | g.31817074A>T | CA363417238 | HSPA1A,HSPA1L | c.1318A>T (p.Ile440Phe) c.823A>T (p.Ile275Phe) c.-14+3939T>A (n.-14+3939T>A) | |
6 | g.31817075T>A | CA363417252 | HSPA1A,HSPA1L | c.1319T>A (p.Ile440Asn) c.824T>A (p.Ile275Asn) c.-14+3938A>T (n.-14+3938A>T) | |
6 | g.31817075T>C | CA363417256 | HSPA1A,HSPA1L | c.1319T>C (p.Ile440Thr) c.824T>C (p.Ile275Thr) c.-14+3938A>G (n.-14+3938A>G) | |
6 | g.31817075T>G | CA363417276 | HSPA1A,HSPA1L | c.1319T>G (p.Ile440Ser) c.824T>G (p.Ile275Ser) c.-14+3938A>C (n.-14+3938A>C) | |
6 | g.31817076C>A | CA449806368 | HSPA1A,HSPA1L | c.1320C>A (p.Ile440=) c.825C>A (p.Ile275=) c.-14+3937G>T (n.-14+3937G>T) | |
6 | g.31817076C>G | CA363417280 | HSPA1A,HSPA1L | c.1320C>G (p.Ile440Met) c.825C>G (p.Ile275Met) c.-14+3937G>C (n.-14+3937G>C) | |
6 | g.31817076C>T | CA449806369 | HSPA1A,HSPA1L | c.1320C>T (p.Ile440=) c.825C>T (p.Ile275=) c.-14+3937G>A (n.-14+3937G>A) | |
6 | g.31817077del | CA2678045132 | HSPA1A,HSPA1L | c.1321del (p.Gln441ArgfsTer9) c.826del (p.Gln276ArgfsTer9) c.-14+3937del (n.-14+3937del) | gnomAD v4 |
6 | g.31817077C>A | CA363417307 | HSPA1A,HSPA1L | c.1321C>A (p.Gln441Lys) c.826C>A (p.Gln276Lys) c.-14+3936G>T (n.-14+3936G>T) | |
6 | g.31817077C= | CA1619307572 | HSPA1A,HSPA1L | c.1321C= (p.Gln441=) c.826C= (p.Gln276=) c.-14+3936G= (n.-14+3936G=) | |
6 | g.31817077C>G | CA363417312 | HSPA1A,HSPA1L | c.1321C>G (p.Gln441Glu) c.826C>G (p.Gln276Glu) c.-14+3936G>C (n.-14+3936G>C) | |
6 | g.31817077C>T | CA363417304 | HSPA1A,HSPA1L | c.1321C>T (p.Gln441Ter) c.826C>T (p.Gln276Ter) c.-14+3936G>A (n.-14+3936G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817078A>C | CA363417319 | HSPA1A,HSPA1L | c.1322A>C (p.Gln441Pro) c.827A>C (p.Gln276Pro) c.-14+3935T>G (n.-14+3935T>G) | |
6 | g.31817078A>G | CA363417322 | HSPA1A,HSPA1L | c.1322A>G (p.Gln441Arg) c.827A>G (p.Gln276Arg) c.-14+3935T>C (n.-14+3935T>C) | |
6 | g.31817078A>T | CA363417323 | HSPA1A,HSPA1L | c.1322A>T (p.Gln441Leu) c.827A>T (p.Gln276Leu) c.-14+3935T>A (n.-14+3935T>A) | |
6 | g.31817079G>A | CA449806373 | HSPA1A,HSPA1L | c.1323G>A (p.Gln441=) c.828G>A (p.Gln276=) c.-14+3934C>T (n.-14+3934C>T) | |
6 | g.31817079G>C | CA363417324 | HSPA1A,HSPA1L | c.1323G>C (p.Gln441His) c.828G>C (p.Gln276His) c.-14+3934C>G (n.-14+3934C>G) | gnomAD v4 |
6 | g.31817079G>T | CA363417325 | HSPA1A,HSPA1L | c.1323G>T (p.Gln441His) c.828G>T (p.Gln276His) c.-14+3934C>A (n.-14+3934C>A) | |
6 | g.31817080G>A | CA363417336 | HSPA1A,HSPA1L | c.1324G>A (p.Val442Met) c.829G>A (p.Val277Met) c.-14+3933C>T (n.-14+3933C>T) | |
6 | g.31817080G>C | CA363417334 | HSPA1A,HSPA1L | c.1324G>C (p.Val442Leu) c.829G>C (p.Val277Leu) c.-14+3933C>G (n.-14+3933C>G) | |
6 | g.31817080G>T | CA363417332 | HSPA1A,HSPA1L | c.1324G>T (p.Val442Leu) c.829G>T (p.Val277Leu) c.-14+3933C>A (n.-14+3933C>A) | |
6 | g.31817081T>A | CA363417344 | HSPA1A,HSPA1L | c.1325T>A (p.Val442Glu) c.830T>A (p.Val277Glu) c.-14+3932A>T (n.-14+3932A>T) | |
6 | g.31817081T>C | CA363417348 | HSPA1A,HSPA1L | c.1325T>C (p.Val442Ala) c.830T>C (p.Val277Ala) c.-14+3932A>G (n.-14+3932A>G) | |
6 | g.31817081T>G | CA363417351 | HSPA1A,HSPA1L | c.1325T>G (p.Val442Gly) c.830T>G (p.Val277Gly) c.-14+3932A>C (n.-14+3932A>C) | gnomAD v3 gnomAD v4 |
6 | g.31817082G>A | CA449806376 | HSPA1A,HSPA1L | c.1326G>A (p.Val442=) c.831G>A (p.Val277=) c.-14+3931C>T (n.-14+3931C>T) | |
6 | g.31817082G>C | CA449806377 | HSPA1A,HSPA1L | c.1326G>C (p.Val442=) c.831G>C (p.Val277=) c.-14+3931C>G (n.-14+3931C>G) | gnomAD v4 |
6 | g.31817082G= | CA1619307573 | HSPA1A,HSPA1L | c.1326G= (p.Val442=) c.831G= (p.Val277=) c.-14+3931C= (n.-14+3931C=) | |
6 | g.31817082G>T | CA449806378 | HSPA1A,HSPA1L | c.1326G>T (p.Val442=) c.831G>T (p.Val277=) c.-14+3931C>A (n.-14+3931C>A) | dbSNP |
6 | g.31817083T>A | CA363417355 | HSPA1A,HSPA1L | c.1327T>A (p.Tyr443Asn) c.832T>A (p.Tyr278Asn) c.-14+3930A>T (n.-14+3930A>T) | |
6 | g.31817083T>C | CA363417359 | HSPA1A,HSPA1L | c.1327T>C (p.Tyr443His) c.832T>C (p.Tyr278His) c.-14+3930A>G (n.-14+3930A>G) | |
6 | g.31817083T>G | CA363417362 | HSPA1A,HSPA1L | c.1327T>G (p.Tyr443Asp) c.832T>G (p.Tyr278Asp) c.-14+3930A>C (n.-14+3930A>C) | |
6 | g.31817084A>C | CA363417371 | HSPA1A,HSPA1L | c.1328A>C (p.Tyr443Ser) c.833A>C (p.Tyr278Ser) c.-14+3929T>G (n.-14+3929T>G) | |
6 | g.31817084A>G | CA363417363 | HSPA1A,HSPA1L | c.1328A>G (p.Tyr443Cys) c.833A>G (p.Tyr278Cys) c.-14+3929T>C (n.-14+3929T>C) | |
6 | g.31817084A>T | CA363417367 | HSPA1A,HSPA1L | c.1328A>T (p.Tyr443Phe) c.833A>T (p.Tyr278Phe) c.-14+3929T>A (n.-14+3929T>A) | |
6 | g.31817085C>A | CA363417375 | HSPA1A,HSPA1L | c.1329C>A (p.Tyr443Ter) c.834C>A (p.Tyr278Ter) c.-14+3928G>T (n.-14+3928G>T) | |
6 | g.31817085C= | CA1619307574 | HSPA1A,HSPA1L | c.1329C= (p.Tyr443=) c.834C= (p.Tyr278=) c.-14+3928G= (n.-14+3928G=) | |
6 | g.31817085C>G | CA363417379 | HSPA1A,HSPA1L | c.1329C>G (p.Tyr443Ter) c.834C>G (p.Tyr278Ter) c.-14+3928G>C (n.-14+3928G>C) | gnomAD v4 |
6 | g.31817085C>T | CA449806380 | HSPA1A,HSPA1L | c.1329C>T (p.Tyr443=) c.834C>T (p.Tyr278=) c.-14+3928G>A (n.-14+3928G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817085_31817093delinsCGAGGGCGA | CA1619307575 | HSPA1A,HSPA1L | c.1329_1337delinsCGAGGGCGA (p.Tyr443=) c.834_842delinsCGAGGGCGA (p.Tyr278=) c.-14+3920_-14+3928delinsTCGCCCTCG (n.-14+3920_-14+3928delinsTCGCCCTCG) | |
6 | g.31817086G>A | CA363417383 | HSPA1A,HSPA1L | c.1330G>A (p.Glu444Lys) c.835G>A (p.Glu279Lys) c.-14+3927C>T (n.-14+3927C>T) | gnomAD v4 |
6 | g.31817086G>C | CA363417385 | HSPA1A,HSPA1L | c.1330G>C (p.Glu444Gln) c.835G>C (p.Glu279Gln) c.-14+3927C>G (n.-14+3927C>G) | |
6 | g.31817086G>T | CA363417384 | HSPA1A,HSPA1L | c.1330G>T (p.Glu444Ter) c.835G>T (p.Glu279Ter) c.-14+3927C>A (n.-14+3927C>A) | |
6 | g.31817092_31817099del | CA823903408 | HSPA1A,HSPA1L | c.1336_1343del (p.Glu446HisfsTer?) c.841_848del (p.Glu281HisfsTer?) c.-14+3920_-14+3927del (n.-14+3920_-14+3927del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817087A>C | CA363417388 | HSPA1A,HSPA1L | c.1331A>C (p.Glu444Ala) c.836A>C (p.Glu279Ala) c.-14+3926T>G (n.-14+3926T>G) | |
6 | g.31817087A>G | CA363417397 | HSPA1A,HSPA1L | c.1331A>G (p.Glu444Gly) c.836A>G (p.Glu279Gly) c.-14+3926T>C (n.-14+3926T>C) | |
6 | g.31817087A>T | CA363417392 | HSPA1A,HSPA1L | c.1331A>T (p.Glu444Val) c.836A>T (p.Glu279Val) c.-14+3926T>A (n.-14+3926T>A) | gnomAD v4 |
6 | g.31817088G>A | CA449806382 | HSPA1A,HSPA1L | c.1332G>A (p.Glu444=) c.837G>A (p.Glu279=) c.-14+3925C>T (n.-14+3925C>T) | |
6 | g.31817088G>C | CA363417399 | HSPA1A,HSPA1L | c.1332G>C (p.Glu444Asp) c.837G>C (p.Glu279Asp) c.-14+3925C>G (n.-14+3925C>G) | |
6 | g.31817088G>T | CA363417401 | HSPA1A,HSPA1L | c.1332G>T (p.Glu444Asp) c.837G>T (p.Glu279Asp) c.-14+3925C>A (n.-14+3925C>A) | gnomAD v4 |
6 | g.31817089G>A | CA363417407 | HSPA1A,HSPA1L | c.1333G>A (p.Gly445Ser) c.838G>A (p.Gly280Ser) c.-14+3924C>T (n.-14+3924C>T) | |
6 | g.31817089G>C | CA363417411 | HSPA1A,HSPA1L | c.1333G>C (p.Gly445Arg) c.838G>C (p.Gly280Arg) c.-14+3924C>G (n.-14+3924C>G) | |
6 | g.31817089G>T | CA363417415 | HSPA1A,HSPA1L | c.1333G>T (p.Gly445Cys) c.838G>T (p.Gly280Cys) c.-14+3924C>A (n.-14+3924C>A) | |
6 | g.31817090G>A | CA363417421 | HSPA1A,HSPA1L | c.1334G>A (p.Gly445Asp) c.839G>A (p.Gly280Asp) c.-14+3923C>T (n.-14+3923C>T) | gnomAD v4 |
6 | g.31817090G>C | CA363417424 | HSPA1A,HSPA1L | c.1334G>C (p.Gly445Ala) c.839G>C (p.Gly280Ala) c.-14+3923C>G (n.-14+3923C>G) | |
6 | g.31817090G>T | CA363417428 | HSPA1A,HSPA1L | c.1334G>T (p.Gly445Val) c.839G>T (p.Gly280Val) c.-14+3923C>A (n.-14+3923C>A) | |
6 | g.31817091C>A | CA449806384 | HSPA1A,HSPA1L | c.1335C>A (p.Gly445=) c.840C>A (p.Gly280=) c.-14+3922G>T (n.-14+3922G>T) | gnomAD v4 |
6 | g.31817091C= | CA1619307576 | HSPA1A,HSPA1L | c.1335C= (p.Gly445=) c.840C= (p.Gly280=) c.-14+3922G= (n.-14+3922G=) | |
6 | g.31817091C>G | CA449806385 | HSPA1A,HSPA1L | c.1335C>G (p.Gly445=) c.840C>G (p.Gly280=) c.-14+3922G>C (n.-14+3922G>C) | |
6 | g.31817091C>T | CA449806386 | HSPA1A,HSPA1L | c.1335C>T (p.Gly445=) c.840C>T (p.Gly280=) c.-14+3922G>A (n.-14+3922G>A) | dbSNP gnomAD v4 |
6 | g.31817092G>A | CA363417433 | HSPA1A,HSPA1L | c.1336G>A (p.Glu446Lys) c.841G>A (p.Glu281Lys) c.-14+3921C>T (n.-14+3921C>T) | |
6 | g.31817092G>C | CA363417442 | HSPA1A,HSPA1L | c.1336G>C (p.Glu446Gln) c.841G>C (p.Glu281Gln) c.-14+3921C>G (n.-14+3921C>G) | |
6 | g.31817092G>T | CA363417449 | HSPA1A,HSPA1L | c.1336G>T (p.Glu446Ter) c.841G>T (p.Glu281Ter) c.-14+3921C>A (n.-14+3921C>A) | |
6 | g.31817093A>C | CA363417462 | HSPA1A,HSPA1L | c.1337A>C (p.Glu446Ala) c.842A>C (p.Glu281Ala) c.-14+3920T>G (n.-14+3920T>G) | |
6 | g.31817093A>G | CA363417459 | HSPA1A,HSPA1L | c.1337A>G (p.Glu446Gly) c.842A>G (p.Glu281Gly) c.-14+3920T>C (n.-14+3920T>C) | |
6 | g.31817093A>T | CA363417454 | HSPA1A,HSPA1L | c.1337A>T (p.Glu446Val) c.842A>T (p.Glu281Val) c.-14+3920T>A (n.-14+3920T>A) | |
6 | g.31817094G>A | CA449806388 | HSPA1A,HSPA1L | c.1338G>A (p.Glu446=) c.843G>A (p.Glu281=) c.-14+3919C>T (n.-14+3919C>T) | |
6 | g.31817094G>C | CA363417466 | HSPA1A,HSPA1L | c.1338G>C (p.Glu446Asp) c.843G>C (p.Glu281Asp) c.-14+3919C>G (n.-14+3919C>G) | |
6 | g.31817094G>T | CA363417469 | HSPA1A,HSPA1L | c.1338G>T (p.Glu446Asp) c.843G>T (p.Glu281Asp) c.-14+3919C>A (n.-14+3919C>A) | |
6 | g.31817095A>C | CA449806390 | HSPA1A,HSPA1L | c.1339A>C (p.Arg447=) c.844A>C (p.Arg282=) c.-14+3918T>G (n.-14+3918T>G) | |
6 | g.31817095A>G | CA363417471 | HSPA1A,HSPA1L | c.1339A>G (p.Arg447Gly) c.844A>G (p.Arg282Gly) c.-14+3918T>C (n.-14+3918T>C) | |
6 | g.31817095A>T | CA363417473 | HSPA1A,HSPA1L | c.1339A>T (p.Arg447Trp) c.844A>T (p.Arg282Trp) c.-14+3918T>A (n.-14+3918T>A) | |
6 | g.31817096G>A | CA363417479 | HSPA1A,HSPA1L | c.1340G>A (p.Arg447Lys) c.845G>A (p.Arg282Lys) c.-14+3917C>T (n.-14+3917C>T) | |
6 | g.31817096G>C | CA363417485 | HSPA1A,HSPA1L | c.1340G>C (p.Arg447Thr) c.845G>C (p.Arg282Thr) c.-14+3917C>G (n.-14+3917C>G) | |
6 | g.31817096G>T | CA363417488 | HSPA1A,HSPA1L | c.1340G>T (p.Arg447Met) c.845G>T (p.Arg282Met) c.-14+3917C>A (n.-14+3917C>A) | |
6 | g.31817097G>A | CA449806392 | HSPA1A,HSPA1L | c.1341G>A (p.Arg447=) c.846G>A (p.Arg282=) c.-14+3916C>T (n.-14+3916C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817097G>C | CA363417492 | HSPA1A,HSPA1L | c.1341G>C (p.Arg447Ser) c.846G>C (p.Arg282Ser) c.-14+3916C>G (n.-14+3916C>G) | |
6 | g.31817097G= | CA1619307577 | HSPA1A,HSPA1L | c.1341G= (p.Arg447=) c.846G= (p.Arg282=) c.-14+3916C= (n.-14+3916C=) | |
6 | g.31817097G>T | CA363417493 | HSPA1A,HSPA1L | c.1341G>T (p.Arg447Ser) c.846G>T (p.Arg282Ser) c.-14+3916C>A (n.-14+3916C>A) | |
6 | g.31817098G>A | CA363417495 | HSPA1A,HSPA1L | c.1342G>A (p.Ala448Thr) c.847G>A (p.Ala283Thr) c.-14+3915C>T (n.-14+3915C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817098G>C | CA363417496 | HSPA1A,HSPA1L | c.1342G>C (p.Ala448Pro) c.847G>C (p.Ala283Pro) c.-14+3915C>G (n.-14+3915C>G) | |
6 | g.31817098G= | CA1619307578 | HSPA1A,HSPA1L | c.1342G= (p.Ala448=) c.847G= (p.Ala283=) c.-14+3915C= (n.-14+3915C=) | |
6 | g.31817098G>T | CA363417506 | HSPA1A,HSPA1L | c.1342G>T (p.Ala448Ser) c.847G>T (p.Ala283Ser) c.-14+3915C>A (n.-14+3915C>A) | |
6 | g.31817099C>A | CA363417523 | HSPA1A,HSPA1L | c.1343C>A (p.Ala448Asp) c.848C>A (p.Ala283Asp) c.-14+3914G>T (n.-14+3914G>T) | |
6 | g.31817099C>G | CA363417513 | HSPA1A,HSPA1L | c.1343C>G (p.Ala448Gly) c.848C>G (p.Ala283Gly) c.-14+3914G>C (n.-14+3914G>C) | |
6 | g.31817099C>T | CA363417510 | HSPA1A,HSPA1L | c.1343C>T (p.Ala448Val) c.848C>T (p.Ala283Val) c.-14+3914G>A (n.-14+3914G>A) |