UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209627513del | CA2697554892 | LAMB3 | c.1357del (p.Cys453ValfsTer?) c.1165del (p.Cys389ValfsTer?) | ClinVar |
| 1 | g.209627512A>C | CA423031653 | LAMB3 | c.1356T>G (p.Leu452=) c.1164T>G (p.Leu388=) | |
| 1 | g.209627512A>G | CA423031652 | LAMB3 | c.1356T>C (p.Leu452=) c.1164T>C (p.Leu388=) | |
| 1 | g.209627512A>T | CA423031651 | LAMB3 | c.1356T>A (p.Leu452=) c.1164T>A (p.Leu388=) | |
| 1 | g.209627513A>C | CA344591234 | LAMB3 | c.1355T>G (p.Leu452Arg) c.1163T>G (p.Leu388Arg) | |
| 1 | g.209627513A>G | CA344591235 | LAMB3 | c.1355T>C (p.Leu452Pro) c.1163T>C (p.Leu388Pro) | |
| 1 | g.209627513A>T | CA344591236 | LAMB3 | c.1355T>A (p.Leu452His) c.1163T>A (p.Leu388His) | |
| 1 | g.209627513_209627515del | CA2650322663 | LAMB3 | c.1353_1355del (p.Leu452del) c.1161_1163del (p.Leu388del) | gnomAD v4 |
| 1 | g.209627514G>A | CA344591237 | LAMB3 | c.1354C>T (p.Leu452Phe) c.1162C>T (p.Leu388Phe) | gnomAD v4 |
| 1 | g.209627514G>C | CA344591238 | LAMB3 | c.1354C>G (p.Leu452Val) c.1162C>G (p.Leu388Val) | |
| 1 | g.209627514G>T | CA344591239 | LAMB3 | c.1354C>A (p.Leu452Ile) c.1162C>A (p.Leu388Ile) | |
| 1 | g.209627515G>A | CA423031654 | LAMB3 | c.1353C>T (p.Cys451=) c.1161C>T (p.Cys387=) | |
| 1 | g.209627515G>C | CA344591241 | LAMB3 | c.1353C>G (p.Cys451Trp) c.1161C>G (p.Cys387Trp) | |
| 1 | g.209627515G>T | CA344591240 | LAMB3 | c.1353C>A (p.Cys451Ter) c.1161C>A (p.Cys387Ter) | |
| 1 | g.209627516C>A | CA344591242 | LAMB3 | c.1352G>T (p.Cys451Phe) c.1160G>T (p.Cys387Phe) | gnomAD v4 |
| 1 | g.209627516C>G | CA344591244 | LAMB3 | c.1352G>C (p.Cys451Ser) c.1160G>C (p.Cys387Ser) | |
| 1 | g.209627516C>T | CA344591243 | LAMB3 | c.1352G>A (p.Cys451Tyr) c.1160G>A (p.Cys387Tyr) | |
| 1 | g.209627517A>C | CA344591245 | LAMB3 | c.1351T>G (p.Cys451Gly) c.1159T>G (p.Cys387Gly) | |
| 1 | g.209627517A>G | CA344591247 | LAMB3 | c.1351T>C (p.Cys451Arg) c.1159T>C (p.Cys387Arg) | |
| 1 | g.209627517A>T | CA344591246 | LAMB3 | c.1351T>A (p.Cys451Ser) c.1159T>A (p.Cys387Ser) | |
| 1 | g.209627518G>A | CA423031656 | LAMB3 | c.1350C>T (p.Arg450=) c.1158C>T (p.Arg386=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627518G>C | CA423031657 | LAMB3 | c.1350C>G (p.Arg450=) c.1158C>G (p.Arg386=) | ClinVar |
| 1 | g.209627518G= | CA2484299944 | LAMB3 | c.1350C= (p.Arg450=) c.1158C= (p.Arg386=) | |
| 1 | g.209627518G>T | CA423031658 | LAMB3 | c.1350C>A (p.Arg450=) c.1158C>A (p.Arg386=) | |
| 1 | g.209627518_209627521del | CA2650322666 | LAMB3 | c.1347_1350del (p.Arg450AlafsTer?) c.1155_1158del (p.Arg386AlafsTer?) | gnomAD v4 |
| 1 | g.209627519C>A | CA344591248 | LAMB3 | c.1349G>T (p.Arg450Leu) c.1157G>T (p.Arg386Leu) | gnomAD v4 |
| 1 | g.209627519C= | CA2484299945 | LAMB3 | c.1349G= (p.Arg450=) c.1157G= (p.Arg386=) | |
| 1 | g.209627519C>G | CA344591249 | LAMB3 | c.1349G>C (p.Arg450Pro) c.1157G>C (p.Arg386Pro) | |
| 1 | g.209627519C>T | CA36757346 | LAMB3 | c.1349G>A (p.Arg450His) c.1157G>A (p.Arg386His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627520G>A | CA1375611 | LAMB3 | c.1348C>T (p.Arg450Cys) c.1156C>T (p.Arg386Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627520G>C | CA344591250 | LAMB3 | c.1348C>G (p.Arg450Gly) c.1156C>G (p.Arg386Gly) | |
| 1 | g.209627520G= | CA1143447680 | LAMB3 | c.1348C= (p.Arg450=) c.1156C= (p.Arg386=) | |
| 1 | g.209627520G>T | CA344591251 | LAMB3 | c.1348C>A (p.Arg450Ser) c.1156C>A (p.Arg386Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627521C>A | CA423031659 | LAMB3 | c.1347G>T (p.Gly449=) c.1155G>T (p.Gly385=) | |
| 1 | g.209627521C= | CA2484299946 | LAMB3 | c.1347G= (p.Gly449=) c.1155G= (p.Gly385=) | |
| 1 | g.209627521C>G | CA423031660 | LAMB3 | c.1347G>C (p.Gly449=) c.1155G>C (p.Gly385=) | |
| 1 | g.209627521C>T | CA1375612 | LAMB3 | c.1347G>A (p.Gly449=) c.1155G>A (p.Gly385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627522C>A | CA344591252 | LAMB3 | c.1346G>T (p.Gly449Val) c.1154G>T (p.Gly385Val) | |
| 1 | g.209627522C>G | CA344591253 | LAMB3 | c.1346G>C (p.Gly449Ala) c.1154G>C (p.Gly385Ala) | |
| 1 | g.209627522C>T | CA344591254 | LAMB3 | c.1346G>A (p.Gly449Glu) c.1154G>A (p.Gly385Glu) | gnomAD v4 COSMIC |
| 1 | g.209627522_209627524delinsCCA | CA2484299947 | LAMB3 | c.1344_1346delinsTGG (p.Ser448=) c.1152_1154delinsTGG (p.Ser384=) | |
| 1 | g.209627523C>A | CA344591255 | LAMB3 | c.1345G>T (p.Gly449Trp) c.1153G>T (p.Gly385Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209627523C= | CA2484299948 | LAMB3 | c.1345G= (p.Gly449=) c.1153G= (p.Gly385=) | |
| 1 | g.209627523C>G | CA344591256 | LAMB3 | c.1345G>C (p.Gly449Arg) c.1153G>C (p.Gly385Arg) | |
| 1 | g.209627523C>T | CA344591257 | LAMB3 | c.1345G>A (p.Gly449Arg) c.1153G>A (p.Gly385Arg) | gnomAD v4 |
| 1 | g.209627524_209627525del | CA658795589 | LAMB3 | c.1344_1345del (p.Ser448ArgfsTer15) c.1152_1153del (p.Ser384ArgfsTer15) | ClinVar dbSNP |
| 1 | g.209627524A= | CA2484299949 | LAMB3 | c.1344T= (p.Ser448=) c.1152T= (p.Ser384=) | |
| 1 | g.209627524A>C | CA344591258 | LAMB3 | c.1344T>G (p.Ser448Arg) c.1152T>G (p.Ser384Arg) | dbSNP |
| 1 | g.209627524A>G | CA423031661 | LAMB3 | c.1344T>C (p.Ser448=) c.1152T>C (p.Ser384=) | |
| 1 | g.209627524A>T | CA344591259 | LAMB3 | c.1344T>A (p.Ser448Arg) c.1152T>A (p.Ser384Arg) | |
| 1 | g.209627525C>A | CA344591261 | LAMB3 | c.1343G>T (p.Ser448Ile) c.1151G>T (p.Ser384Ile) | |
| 1 | g.209627525C= | CA2484299950 | LAMB3 | c.1343G= (p.Ser448=) c.1151G= (p.Ser384=) | |
| 1 | g.209627525C>G | CA344591260 | LAMB3 | c.1343G>C (p.Ser448Thr) c.1151G>C (p.Ser384Thr) | |
| 1 | g.209627525C>T | CA1375613 | LAMB3 | c.1343G>A (p.Ser448Asn) c.1151G>A (p.Ser384Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627526T>A | CA344591262 | LAMB3 | c.1342A>T (p.Ser448Cys) c.1150A>T (p.Ser384Cys) | |
| 1 | g.209627526T>C | CA344591263 | LAMB3 | c.1342A>G (p.Ser448Gly) c.1150A>G (p.Ser384Gly) | |
| 1 | g.209627526T>G | CA344591264 | LAMB3 | c.1342A>C (p.Ser448Arg) c.1150A>C (p.Ser384Arg) | |
| 1 | g.209627527C>A | CA344591265 | LAMB3 | c.1341G>T (p.Glu447Asp) c.1149G>T (p.Glu383Asp) | dbSNP |
| 1 | g.209627527C= | CA2484299951 | LAMB3 | c.1341G= (p.Glu447=) c.1149G= (p.Glu383=) | |
| 1 | g.209627527C>G | CA344591266 | LAMB3 | c.1341G>C (p.Glu447Asp) c.1149G>C (p.Glu383Asp) | dbSNP gnomAD v4 |
| 1 | g.209627527C>T | CA423031664 | LAMB3 | c.1341G>A (p.Glu447=) c.1149G>A (p.Glu383=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209627528T>A | CA1375614 | LAMB3 | c.1340A>T (p.Glu447Val) c.1148A>T (p.Glu383Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627528T>C | CA344591267 | LAMB3 | c.1340A>G (p.Glu447Gly) c.1148A>G (p.Glu383Gly) | |
| 1 | g.209627528T>G | CA344591268 | LAMB3 | c.1340A>C (p.Glu447Ala) c.1148A>C (p.Glu383Ala) | |
| 1 | g.209627528T= | CA1143708268 | LAMB3 | c.1340A= (p.Glu447=) c.1148A= (p.Glu383=) | |
| 1 | g.209627529C>A | CA344591269 | LAMB3 | c.1339G>T (p.Glu447Ter) c.1147G>T (p.Glu383Ter) | |
| 1 | g.209627529C= | CA2484299952 | LAMB3 | c.1339G= (p.Glu447=) c.1147G= (p.Glu383=) | |
| 1 | g.209627529C>G | CA344591270 | LAMB3 | c.1339G>C (p.Glu447Gln) c.1147G>C (p.Glu383Gln) | |
| 1 | g.209627529C>T | CA344591271 | LAMB3 | c.1339G>A (p.Glu447Lys) c.1147G>A (p.Glu383Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627530C>A | CA344591272 | LAMB3 | c.1338G>T (p.Glu446Asp) c.1146G>T (p.Glu382Asp) | |
| 1 | g.209627530C= | CA2484299953 | LAMB3 | c.1338G= (p.Glu446=) c.1146G= (p.Glu382=) | |
| 1 | g.209627530C>G | CA344591273 | LAMB3 | c.1338G>C (p.Glu446Asp) c.1146G>C (p.Glu382Asp) | |
| 1 | g.209627530C>T | CA36757370 | LAMB3 | c.1338G>A (p.Glu446=) c.1146G>A (p.Glu382=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627531del | CA2650322679 | LAMB3 | c.1337del (p.Glu446GlyfsTer?) c.1145del (p.Glu382GlyfsTer?) | gnomAD v4 |
| 1 | g.209627531T>A | CA344591274 | LAMB3 | c.1337A>T (p.Glu446Val) c.1145A>T (p.Glu382Val) | |
| 1 | g.209627531T>C | CA344591275 | LAMB3 | c.1337A>G (p.Glu446Gly) c.1145A>G (p.Glu382Gly) | |
| 1 | g.209627531T>G | CA344591276 | LAMB3 | c.1337A>C (p.Glu446Ala) c.1145A>C (p.Glu382Ala) | |
| 1 | g.209627532C>A | CA36757373 | LAMB3 | c.1336G>T (p.Glu446Ter) c.1144G>T (p.Glu382Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209627532C= | CA1149063091 | LAMB3 | c.1336G= (p.Glu446=) c.1144G= (p.Glu382=) | |
| 1 | g.209627532C>G | CA344591277 | LAMB3 | c.1336G>C (p.Glu446Gln) c.1144G>C (p.Glu382Gln) | |
| 1 | g.209627532C>T | CA1375615 | LAMB3 | c.1336G>A (p.Glu446Lys) c.1144G>A (p.Glu382Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209627533G>A | CA1375617 | LAMB3 | c.1335C>T (p.Asp445=) c.1143C>T (p.Asp381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627533G>C | CA1375616 | LAMB3 | c.1335C>G (p.Asp445Glu) c.1143C>G (p.Asp381Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627533G= | CA1143994037 | LAMB3 | c.1335C= (p.Asp445=) c.1143C= (p.Asp381=) | |
| 1 | g.209627533G>T | CA344591278 | LAMB3 | c.1335C>A (p.Asp445Glu) c.1143C>A (p.Asp381Glu) | gnomAD v4 |
| 1 | g.209627534T>A | CA344591279 | LAMB3 | c.1334A>T (p.Asp445Val) c.1142A>T (p.Asp381Val) | |
| 1 | g.209627534T>C | CA344591280 | LAMB3 | c.1334A>G (p.Asp445Gly) c.1142A>G (p.Asp381Gly) | dbSNP |
| 1 | g.209627534T>G | CA344591281 | LAMB3 | c.1334A>C (p.Asp445Ala) c.1142A>C (p.Asp381Ala) | |
| 1 | g.209627534T= | CA2484299954 | LAMB3 | c.1334A= (p.Asp445=) c.1142A= (p.Asp381=) | |
| 1 | g.209627535C>A | CA344591284 | LAMB3 | c.1333G>T (p.Asp445Tyr) c.1141G>T (p.Asp381Tyr) | |
| 1 | g.209627535C>G | CA344591283 | LAMB3 | c.1333G>C (p.Asp445His) c.1141G>C (p.Asp381His) | |
| 1 | g.209627535C>T | CA344591282 | LAMB3 | c.1333G>A (p.Asp445Asn) c.1141G>A (p.Asp381Asn) | |
| 1 | g.209627536A>C | CA344591285 | LAMB3 | c.1332T>G (p.Cys444Trp) c.1140T>G (p.Cys380Trp) | |
| 1 | g.209627536A>G | CA423031685 | LAMB3 | c.1332T>C (p.Cys444=) c.1140T>C (p.Cys380=) | |
| 1 | g.209627536A>T | CA344591286 | LAMB3 | c.1332T>A (p.Cys444Ter) c.1140T>A (p.Cys380Ter) | |
| 1 | g.209627537C>A | CA344591287 | LAMB3 | c.1331G>T (p.Cys444Phe) c.1139G>T (p.Cys380Phe) | |
| 1 | g.209627537C= | CA2484299955 | LAMB3 | c.1331G= (p.Cys444=) c.1139G= (p.Cys380=) | |
| 1 | g.209627537C>G | CA344591288 | LAMB3 | c.1331G>C (p.Cys444Ser) c.1139G>C (p.Cys380Ser) | gnomAD v4 |
| 1 | g.209627537C>T | CA344591289 | LAMB3 | c.1331G>A (p.Cys444Tyr) c.1139G>A (p.Cys380Tyr) | dbSNP gnomAD v4 |
| 1 | g.209627538A= | CA1143386221 | LAMB3 | c.1330T= (p.Cys444=) c.1138T= (p.Cys380=) | |
| 1 | g.209627538A>C | CA344591290 | LAMB3 | c.1330T>G (p.Cys444Gly) c.1138T>G (p.Cys380Gly) | |
| 1 | g.209627538A>G | CA36757383 | LAMB3 | c.1330T>C (p.Cys444Arg) c.1138T>C (p.Cys380Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627538A>T | CA344591291 | LAMB3 | c.1330T>A (p.Cys444Ser) c.1138T>A (p.Cys380Ser) | |
| 1 | g.209627539C>A | CA423031690 | LAMB3 | c.1329G>T (p.Pro443=) c.1137G>T (p.Pro379=) | |
| 1 | g.209627539C= | CA1143787395 | LAMB3 | c.1329G= (p.Pro443=) c.1137G= (p.Pro379=) | |
| 1 | g.209627539C>G | CA423031692 | LAMB3 | c.1329G>C (p.Pro443=) c.1137G>C (p.Pro379=) | |
| 1 | g.209627539C>T | CA1375618 | LAMB3 | c.1329G>A (p.Pro443=) c.1137G>A (p.Pro379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627540G>A | CA1375619 | LAMB3 | c.1328C>T (p.Pro443Leu) c.1136C>T (p.Pro379Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209627540G>C | CA344591292 | LAMB3 | c.1328C>G (p.Pro443Arg) c.1136C>G (p.Pro379Arg) | |
| 1 | g.209627540G= | CA1143525941 | LAMB3 | c.1328C= (p.Pro443=) c.1136C= (p.Pro379=) | |
| 1 | g.209627540G>T | CA344591293 | LAMB3 | c.1328C>A (p.Pro443Gln) c.1136C>A (p.Pro379Gln) | dbSNP |
| 1 | g.209627541G>A | CA36757389 | LAMB3 | c.1327C>T (p.Pro443Ser) c.1135C>T (p.Pro379Ser) | dbSNP gnomAD v4 COSMIC |
| 1 | g.209627541G>C | CA344591295 | LAMB3 | c.1327C>G (p.Pro443Ala) c.1135C>G (p.Pro379Ala) | |
| 1 | g.209627541G= | CA2484299956 | LAMB3 | c.1327C= (p.Pro443=) c.1135C= (p.Pro379=) | |
| 1 | g.209627541G>T | CA344591294 | LAMB3 | c.1327C>A (p.Pro443Thr) c.1135C>A (p.Pro379Thr) | |
| 1 | g.209627542C>A | CA344591296 | LAMB3 | c.1326G>T (p.Met442Ile) c.1134G>T (p.Met378Ile) | |
| 1 | g.209627542C>G | CA344591298 | LAMB3 | c.1326G>C (p.Met442Ile) c.1134G>C (p.Met378Ile) | |
| 1 | g.209627542C>T | CA344591297 | LAMB3 | c.1326G>A (p.Met442Ile) c.1134G>A (p.Met378Ile) | |
| 1 | g.209627543A= | CA2484299957 | LAMB3 | c.1325T= (p.Met442=) c.1133T= (p.Met378=) | |
| 1 | g.209627543A>C | CA344591299 | LAMB3 | c.1325T>G (p.Met442Arg) c.1133T>G (p.Met378Arg) | |
| 1 | g.209627543A>G | CA36757391 | LAMB3 | c.1325T>C (p.Met442Thr) c.1133T>C (p.Met378Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627543A>T | CA344591300 | LAMB3 | c.1325T>A (p.Met442Lys) c.1133T>A (p.Met378Lys) | |
| 1 | g.209627543_209627549delinsCCT | CA2580062004 | LAMB3 | c.1319_1325delinsAGG (p.Arg440LysfsTer?) c.1127_1133delinsAGG (p.Arg376LysfsTer?) | ClinVar |
| 1 | g.209627544T>A | CA344591301 | LAMB3 | c.1324A>T (p.Met442Leu) c.1132A>T (p.Met378Leu) | |
| 1 | g.209627544T>C | CA344591302 | LAMB3 | c.1324A>G (p.Met442Val) c.1132A>G (p.Met378Val) | gnomAD v4 |
| 1 | g.209627544T>G | CA344591303 | LAMB3 | c.1324A>C (p.Met442Leu) c.1132A>C (p.Met378Leu) | |
| 1 | g.209627544_209627548dup | CA2574001376 | LAMB3 | c.1320_1324dup (p.Met442ArgfsTer?) c.1128_1132dup (p.Met378ArgfsTer?) | |
| 1 | g.209627545G>A | CA423031697 | LAMB3 | c.1323C>T (p.Asp441=) c.1131C>T (p.Asp377=) | |
| 1 | g.209627545G>C | CA344591304 | LAMB3 | c.1323C>G (p.Asp441Glu) c.1131C>G (p.Asp377Glu) | gnomAD v4 |
| 1 | g.209627545G>T | CA344591305 | LAMB3 | c.1323C>A (p.Asp441Glu) c.1131C>A (p.Asp377Glu) | |
| 1 | g.209627546T>A | CA344591306 | LAMB3 | c.1322A>T (p.Asp441Val) c.1130A>T (p.Asp377Val) | |
| 1 | g.209627546T>C | CA344591307 | LAMB3 | c.1322A>G (p.Asp441Gly) c.1130A>G (p.Asp377Gly) | |
| 1 | g.209627546T>G | CA344591308 | LAMB3 | c.1322A>C (p.Asp441Ala) c.1130A>C (p.Asp377Ala) | |
| 1 | g.209627549_209627552del | CA2580062005 | LAMB3 | c.1319_1322del (p.Arg440ThrfsTer?) c.1127_1130del (p.Arg376ThrfsTer?) | ClinVar |
| 1 | g.209627547C>A | CA344591311 | LAMB3 | c.1321G>T (p.Asp441Tyr) c.1129G>T (p.Asp377Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627547C= | CA2484299958 | LAMB3 | c.1321G= (p.Asp441=) c.1129G= (p.Asp377=) | |
| 1 | g.209627547C>G | CA344591310 | LAMB3 | c.1321G>C (p.Asp441His) c.1129G>C (p.Asp377His) | gnomAD v4 |
| 1 | g.209627547C>T | CA344591309 | LAMB3 | c.1321G>A (p.Asp441Asn) c.1129G>A (p.Asp377Asn) | |
| 1 | g.209627548C>A | CA344591312 | LAMB3 | c.1320G>T (p.Arg440Ser) c.1128G>T (p.Arg376Ser) | |
| 1 | g.209627548C>G | CA344591313 | LAMB3 | c.1320G>C (p.Arg440Ser) c.1128G>C (p.Arg376Ser) | |
| 1 | g.209627548C>T | CA423031698 | LAMB3 | c.1320G>A (p.Arg440=) c.1128G>A (p.Arg376=) | |
| 1 | g.209627549C>A | CA1375620 | LAMB3 | c.1319G>T (p.Arg440Met) c.1127G>T (p.Arg376Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627549C= | CA2484299959 | LAMB3 | c.1319G= (p.Arg440=) c.1127G= (p.Arg376=) | |
| 1 | g.209627549C>G | CA344591314 | LAMB3 | c.1319G>C (p.Arg440Thr) c.1127G>C (p.Arg376Thr) | |
| 1 | g.209627549C>T | CA344591315 | LAMB3 | c.1319G>A (p.Arg440Lys) c.1127G>A (p.Arg376Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627550T>A | CA344591316 | LAMB3 | c.1318A>T (p.Arg440Trp) c.1126A>T (p.Arg376Trp) | |
| 1 | g.209627550T>C | CA344591317 | LAMB3 | c.1318A>G (p.Arg440Gly) c.1126A>G (p.Arg376Gly) | |
| 1 | g.209627550T>G | CA423031699 | LAMB3 | c.1318A>C (p.Arg440=) c.1126A>C (p.Arg376=) | |
| 1 | g.209627551C>A | CA423031701 | LAMB3 | c.1317G>T (p.Arg439=) c.1125G>T (p.Arg375=) | |
| 1 | g.209627551C>G | CA423031703 | LAMB3 | c.1317G>C (p.Arg439=) c.1125G>C (p.Arg375=) | |
| 1 | g.209627551C>T | CA423031702 | LAMB3 | c.1317G>A (p.Arg439=) c.1125G>A (p.Arg375=) | gnomAD v4 |
| 1 | g.209627552C>A | CA344591318 | LAMB3 | c.1316G>T (p.Arg439Leu) c.1124G>T (p.Arg375Leu) | |
| 1 | g.209627552C= | CA2484299960 | LAMB3 | c.1316G= (p.Arg439=) c.1124G= (p.Arg375=) | |
| 1 | g.209627552C>G | CA344591319 | LAMB3 | c.1316G>C (p.Arg439Pro) c.1124G>C (p.Arg375Pro) | |
| 1 | g.209627552C>T | CA344591320 | LAMB3 | c.1316G>A (p.Arg439Gln) c.1124G>A (p.Arg375Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627553G>A | CA1375621 | LAMB3 | c.1315C>T (p.Arg439Trp) c.1123C>T (p.Arg375Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209627553G>C | CA344591321 | LAMB3 | c.1315C>G (p.Arg439Gly) c.1123C>G (p.Arg375Gly) | |
| 1 | g.209627553G= | CA2484299961 | LAMB3 | c.1315C= (p.Arg439=) c.1123C= (p.Arg375=) | |
| 1 | g.209627553G>T | CA423031704 | LAMB3 | c.1315C>A (p.Arg439=) c.1123C>A (p.Arg375=) | |
| 1 | g.209627554G>A | CA423031705 | LAMB3 | c.1314C>T (p.Ser438=) c.1122C>T (p.Ser374=) | |
| 1 | g.209627554G>C | CA423031706 | LAMB3 | c.1314C>G (p.Ser438=) c.1122C>G (p.Ser374=) | |
| 1 | g.209627554G>T | CA423031707 | LAMB3 | c.1314C>A (p.Ser438=) c.1122C>A (p.Ser374=) | |
| 1 | g.209627555G>A | CA344591324 | LAMB3 | c.1313C>T (p.Ser438Phe) c.1121C>T (p.Ser374Phe) | |
| 1 | g.209627555G>C | CA344591323 | LAMB3 | c.1313C>G (p.Ser438Cys) c.1121C>G (p.Ser374Cys) | gnomAD v4 |
| 1 | g.209627555G>T | CA344591322 | LAMB3 | c.1313C>A (p.Ser438Tyr) c.1121C>A (p.Ser374Tyr) | gnomAD v4 |
| 1 | g.209627556A= | CA1139922147 | LAMB3 | c.1312T= (p.Ser438=) c.1120T= (p.Ser374=) | |
| 1 | g.209627556A>C | CA344591325 | LAMB3 | c.1312T>G (p.Ser438Ala) c.1120T>G (p.Ser374Ala) | |
| 1 | g.209627556A>G | CA344591326 | LAMB3 | c.1312T>C (p.Ser438Pro) c.1120T>C (p.Ser374Pro) | |
| 1 | g.209627556A>T | CA1375622 | LAMB3 | c.1312T>A (p.Ser438Thr) c.1120T>A (p.Ser374Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627557C>A | CA423031709 | LAMB3 | c.1311G>T (p.Gly437=) c.1119G>T (p.Gly373=) | ClinVar dbSNP gnomAD v2 |
| 1 | g.209627557C= | CA2484299962 | LAMB3 | c.1311G= (p.Gly437=) c.1119G= (p.Gly373=) | |
| 1 | g.209627557C>G | CA423031711 | LAMB3 | c.1311G>C (p.Gly437=) c.1119G>C (p.Gly373=) | |
| 1 | g.209627557C>T | CA423031710 | LAMB3 | c.1311G>A (p.Gly437=) c.1119G>A (p.Gly373=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627558C>A | CA344591327 | LAMB3 | c.1310G>T (p.Gly437Val) c.1118G>T (p.Gly373Val) | |
| 1 | g.209627558C>G | CA344591328 | LAMB3 | c.1310G>C (p.Gly437Ala) c.1118G>C (p.Gly373Ala) | |
| 1 | g.209627558C>T | CA344591329 | LAMB3 | c.1310G>A (p.Gly437Glu) c.1118G>A (p.Gly373Glu) | |
| 1 | g.209627559C>A | CA344591330 | LAMB3 | c.1309G>T (p.Gly437Trp) c.1117G>T (p.Gly373Trp) | |
| 1 | g.209627559C>G | CA344591331 | LAMB3 | c.1309G>C (p.Gly437Arg) c.1117G>C (p.Gly373Arg) | |
| 1 | g.209627559C>T | CA344591332 | LAMB3 | c.1309G>A (p.Gly437Arg) c.1117G>A (p.Gly373Arg) | |
| 1 | g.209627560C>A | CA423031712 | LAMB3 | c.1308G>T (p.Leu436=) c.1116G>T (p.Leu372=) | |
| 1 | g.209627560C>G | CA423031713 | LAMB3 | c.1308G>C (p.Leu436=) c.1116G>C (p.Leu372=) | |
| 1 | g.209627560C>T | CA423031714 | LAMB3 | c.1308G>A (p.Leu436=) c.1116G>A (p.Leu372=) | |
| 1 | g.209627561A= | CA2484299963 | LAMB3 | c.1307T= (p.Leu436=) c.1115T= (p.Leu372=) | |
| 1 | g.209627561A>C | CA344591333 | LAMB3 | c.1307T>G (p.Leu436Arg) c.1115T>G (p.Leu372Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627561A>G | CA344591334 | LAMB3 | c.1307T>C (p.Leu436Pro) c.1115T>C (p.Leu372Pro) | dbSNP |
| 1 | g.209627561A>T | CA344591335 | LAMB3 | c.1307T>A (p.Leu436Gln) c.1115T>A (p.Leu372Gln) | |
| 1 | g.209627562G>A | CA423031715 | LAMB3 | c.1306C>T (p.Leu436=) c.1114C>T (p.Leu372=) | |
| 1 | g.209627562G>C | CA344591336 | LAMB3 | c.1306C>G (p.Leu436Val) c.1114C>G (p.Leu372Val) | |
| 1 | g.209627562G>T | CA344591337 | LAMB3 | c.1306C>A (p.Leu436Met) c.1114C>A (p.Leu372Met) | |
| 1 | g.209627563G>A | CA423031716 | LAMB3 | c.1305C>T (p.Ile435=) c.1113C>T (p.Ile371=) | |
| 1 | g.209627563G>C | CA344591338 | LAMB3 | c.1305C>G (p.Ile435Met) c.1113C>G (p.Ile371Met) | |
| 1 | g.209627563G>T | CA423031717 | LAMB3 | c.1305C>A (p.Ile435=) c.1113C>A (p.Ile371=) | |
| 1 | g.209627564A= | CA1148435414 | LAMB3 | c.1304T= (p.Ile435=) c.1112T= (p.Ile371=) | |
| 1 | g.209627564A>C | CA344591339 | LAMB3 | c.1304T>G (p.Ile435Ser) c.1112T>G (p.Ile371Ser) | |
| 1 | g.209627564A>G | CA344591340 | LAMB3 | c.1304T>C (p.Ile435Thr) c.1112T>C (p.Ile371Thr) | |
| 1 | g.209627564A>T | CA1375623 | LAMB3 | c.1304T>A (p.Ile435Asn) c.1112T>A (p.Ile371Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627565T>A | CA344591341 | LAMB3 | c.1303A>T (p.Ile435Phe) c.1111A>T (p.Ile371Phe) | |
| 1 | g.209627565T>C | CA1375624 | LAMB3 | c.1303A>G (p.Ile435Val) c.1111A>G (p.Ile371Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627565T>G | CA344591342 | LAMB3 | c.1303A>C (p.Ile435Leu) c.1111A>C (p.Ile371Leu) | |
| 1 | g.209627565T= | CA2484299964 | LAMB3 | c.1303A= (p.Ile435=) c.1111A= (p.Ile371=) | |
| 1 | g.209627567_209627569del | CA2650322705 | LAMB3 | c.1301_1303del (p.Asn434del) c.1109_1111del (p.Asn370del) | gnomAD v4 |
| 1 | g.209627566G>A | CA1375625 | LAMB3 | c.1302C>T (p.Asn434=) c.1110C>T (p.Asn370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627566G>C | CA344591343 | LAMB3 | c.1302C>G (p.Asn434Lys) c.1110C>G (p.Asn370Lys) | |
| 1 | g.209627566G= | CA2484299965 | LAMB3 | c.1302C= (p.Asn434=) c.1110C= (p.Asn370=) | |
| 1 | g.209627566G>T | CA344591344 | LAMB3 | c.1302C>A (p.Asn434Lys) c.1110C>A (p.Asn370Lys) | |
| 1 | g.209627567T>A | CA344591345 | LAMB3 | c.1301A>T (p.Asn434Ile) c.1109A>T (p.Asn370Ile) | |
| 1 | g.209627567T>C | CA1375626 | LAMB3 | c.1301A>G (p.Asn434Ser) c.1109A>G (p.Asn370Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627567T>G | CA344591346 | LAMB3 | c.1301A>C (p.Asn434Thr) c.1109A>C (p.Asn370Thr) | |
| 1 | g.209627567T= | CA1148297303 | LAMB3 | c.1301A= (p.Asn434=) c.1109A= (p.Asn370=) | |
| 1 | g.209627567_209627579del | CA2580062006 | LAMB3 | c.1289_1301del (p.Arg430ProfsTer?) c.1097_1109del (p.Arg366ProfsTer?) | ClinVar |
| 1 | g.209627568T>A | CA344591349 | LAMB3 | c.1300A>T (p.Asn434Tyr) c.1108A>T (p.Asn370Tyr) | |
| 1 | g.209627568T>C | CA344591348 | LAMB3 | c.1300A>G (p.Asn434Asp) c.1108A>G (p.Asn370Asp) | |
| 1 | g.209627568T>G | CA344591347 | LAMB3 | c.1300A>C (p.Asn434His) c.1108A>C (p.Asn370His) | |
| 1 | g.209627569G>A | CA423031721 | LAMB3 | c.1299C>T (p.Cys433=) c.1107C>T (p.Cys369=) | |
| 1 | g.209627569G>C | CA344591350 | LAMB3 | c.1299C>G (p.Cys433Trp) c.1107C>G (p.Cys369Trp) | |
| 1 | g.209627569G>T | CA344591351 | LAMB3 | c.1299C>A (p.Cys433Ter) c.1107C>A (p.Cys369Ter) | |
| 1 | g.209627570C>A | CA344591352 | LAMB3 | c.1298G>T (p.Cys433Phe) c.1106G>T (p.Cys369Phe) | |
| 1 | g.209627570C= | CA2484299966 | LAMB3 | c.1298G= (p.Cys433=) c.1106G= (p.Cys369=) | |
| 1 | g.209627570C>G | CA344591354 | LAMB3 | c.1298G>C (p.Cys433Ser) c.1106G>C (p.Cys369Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627570C>T | CA344591353 | LAMB3 | c.1298G>A (p.Cys433Tyr) c.1106G>A (p.Cys369Tyr) | |
| 1 | g.209627571A>C | CA344591355 | LAMB3 | c.1297T>G (p.Cys433Gly) c.1105T>G (p.Cys369Gly) | |
| 1 | g.209627571A>G | CA344591356 | LAMB3 | c.1297T>C (p.Cys433Arg) c.1105T>C (p.Cys369Arg) | gnomAD v4 |
| 1 | g.209627571A>T | CA344591357 | LAMB3 | c.1297T>A (p.Cys433Ser) c.1105T>A (p.Cys369Ser) | |
| 1 | g.209627572G>A | CA423031722 | LAMB3 | c.1296C>T (p.Asp432=) c.1104C>T (p.Asp368=) | |
| 1 | g.209627572G>C | CA344591358 | LAMB3 | c.1296C>G (p.Asp432Glu) c.1104C>G (p.Asp368Glu) | |
| 1 | g.209627572G>T | CA344591359 | LAMB3 | c.1296C>A (p.Asp432Glu) c.1104C>A (p.Asp368Glu) | |
| 1 | g.209627573_209627582del | CA2573051472 | LAMB3 | c.1289-2_1296del c.1097-2_1104del | ClinVar dbSNP |
| 1 | g.209627573T>A | CA344591360 | LAMB3 | c.1295A>T (p.Asp432Val) c.1103A>T (p.Asp368Val) | |
| 1 | g.209627573T>C | CA344591361 | LAMB3 | c.1295A>G (p.Asp432Gly) c.1103A>G (p.Asp368Gly) | |
| 1 | g.209627573T>G | CA344591362 | LAMB3 | c.1295A>C (p.Asp432Ala) c.1103A>C (p.Asp368Ala) | |
| 1 | g.209627573dup | CA2586964570 | LAMB3 | c.1295dup (p.Asp432GlufsTer14) c.1103dup (p.Asp368GlufsTer14) | |
| 1 | g.209627574C>A | CA344591363 | LAMB3 | c.1294G>T (p.Asp432Tyr) c.1102G>T (p.Asp368Tyr) | |
| 1 | g.209627574C>G | CA344591364 | LAMB3 | c.1294G>C (p.Asp432His) c.1102G>C (p.Asp368His) | |
| 1 | g.209627574C>T | CA344591365 | LAMB3 | c.1294G>A (p.Asp432Asn) c.1102G>A (p.Asp368Asn) | |
| 1 | g.209627576_209627577del | CA2580611254 | LAMB3 | c.1293_1294del (p.Cys431Ter) c.1101_1102del (p.Cys367Ter) | ClinVar |
| 1 | g.209627575A>C | CA344591367 | LAMB3 | c.1293T>G (p.Cys431Trp) c.1101T>G (p.Cys367Trp) | |
| 1 | g.209627575A>G | CA423031726 | LAMB3 | c.1293T>C (p.Cys431=) c.1101T>C (p.Cys367=) | |
| 1 | g.209627575A>T | CA344591366 | LAMB3 | c.1293T>A (p.Cys431Ter) c.1101T>A (p.Cys367Ter) | |
| 1 | g.209627576C>A | CA344591368 | LAMB3 | c.1292G>T (p.Cys431Phe) c.1100G>T (p.Cys367Phe) | |
| 1 | g.209627576C>G | CA344591369 | LAMB3 | c.1292G>C (p.Cys431Ser) c.1100G>C (p.Cys367Ser) | |
| 1 | g.209627576C>T | CA344591370 | LAMB3 | c.1292G>A (p.Cys431Tyr) c.1100G>A (p.Cys367Tyr) | gnomAD v4 |
| 1 | g.209627577A= | CA2484299967 | LAMB3 | c.1291T= (p.Cys431=) c.1099T= (p.Cys367=) | |
| 1 | g.209627577A>C | CA344591371 | LAMB3 | c.1291T>G (p.Cys431Gly) c.1099T>G (p.Cys367Gly) | |
| 1 | g.209627577A>G | CA344591372 | LAMB3 | c.1291T>C (p.Cys431Arg) c.1099T>C (p.Cys367Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627577A>T | CA344591373 | LAMB3 | c.1291T>A (p.Cys431Ser) c.1099T>A (p.Cys367Ser) | |
| 1 | g.209627578G>A | CA423031727 | LAMB3 | c.1290C>T (p.Arg430=) c.1098C>T (p.Arg366=) | |
| 1 | g.209627578G>C | CA423031728 | LAMB3 | c.1290C>G (p.Arg430=) c.1098C>G (p.Arg366=) | |
| 1 | g.209627578G>T | CA423031729 | LAMB3 | c.1290C>A (p.Arg430=) c.1098C>A (p.Arg366=) | COSMIC |
| 1 | g.209627579C>A | CA344591374 | LAMB3 | c.1289G>T (p.Arg430Leu) c.1097G>T (p.Arg366Leu) | |
| 1 | g.209627579C>G | CA344591375 | LAMB3 | c.1289G>C (p.Arg430Pro) c.1097G>C (p.Arg366Pro) | |
| 1 | g.209627579C>T | CA344591376 | LAMB3 | c.1289G>A (p.Arg430His) c.1097G>A (p.Arg366His) | |
| 1 | g.209627580C>A | CA344591377 | LAMB3 | c.1289-1G>T (n.1289-1G>T) c.1097-1G>T (n.1097-1G>T) | |
| 1 | g.209627580C>G | CA344591378 | LAMB3 | c.1289-1G>C (n.1289-1G>C) c.1097-1G>C (n.1097-1G>C) | |
| 1 | g.209627580C>T | CA344591379 | LAMB3 | c.1289-1G>A (n.1289-1G>A) c.1097-1G>A (n.1097-1G>A) | |
| 1 | g.209627580_209627581delinsCT | CA2484299968 | LAMB3 | c.1289-2_1289-1delinsAG (n.1289-2_1289-1delinsAG) c.1097-2_1097-1delinsAG (n.1097-2_1097-1delinsAG) | |
| 1 | g.209627581del | CA529000264 | LAMB3 | c.1289-2del (n.1289-2del) c.1097-2del (n.1097-2del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627581T>A | CA344591381 | LAMB3 | c.1289-2A>T (n.1289-2A>T) c.1097-2A>T (n.1097-2A>T) | |
| 1 | g.209627581T>C | CA344591382 | LAMB3 | c.1289-2A>G (n.1289-2A>G) c.1097-2A>G (n.1097-2A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209627581T>G | CA344591380 | LAMB3 | c.1289-2A>C (n.1289-2A>C) c.1097-2A>C (n.1097-2A>C) | |
| 1 | g.209627581T= | CA2484299969 | LAMB3 | c.1289-2A= (n.1289-2A=) c.1097-2A= (n.1097-2A=) | |
| 1 | g.209627582G>A | CA1375627 | LAMB3 | c.1289-3C>T (n.1289-3C>T) c.1097-3C>T (n.1097-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627582G= | CA2484299970 | LAMB3 | c.1289-3C= (n.1289-3C=) c.1097-3C= (n.1097-3C=) | |
| 1 | g.209627583C>A | CA2573131525 | LAMB3 | c.1289-4G>T (n.1289-4G>T) c.1097-4G>T (n.1097-4G>T) | ClinVar dbSNP |
| 1 | g.209627583_209627586delinsCAGG | CA2484299971 | LAMB3 | c.1289-7_1289-4delinsCCTG (n.1289-7_1289-4delinsCCTG) c.1097-7_1097-4delinsCCTG (n.1097-7_1097-4delinsCCTG) | |
| 1 | g.209627584A>T | CA2650322707 | LAMB3 | c.1289-5T>A (n.1289-5T>A) c.1097-5T>A (n.1097-5T>A) | gnomAD v4 |
| 1 | g.209627589_209627591del | CA529000265 | LAMB3 | c.1289-7_1289-5del (n.1289-7_1289-5del) c.1097-7_1097-5del (n.1097-7_1097-5del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627586G>A | CA2739275559 | LAMB3 | c.1289-7C>T (n.1289-7C>T) c.1097-7C>T (n.1097-7C>T) | ClinVar |
| 1 | g.209627587A>G | CA2573131526 | LAMB3 | c.1289-8T>C (n.1289-8T>C) c.1097-8T>C (n.1097-8T>C) | ClinVar dbSNP |
| 1 | g.209627588G>A | CA2650322708 | LAMB3 | c.1289-9C>T (n.1289-9C>T) c.1097-9C>T (n.1097-9C>T) | ClinVar gnomAD v4 |
| 1 | g.209627589G>A | CA2484299973 | LAMB3 | c.1289-10C>T (n.1289-10C>T) c.1097-10C>T (n.1097-10C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209627589G= | CA2484299972 | LAMB3 | c.1289-10C= (n.1289-10C=) c.1097-10C= (n.1097-10C=) | |
| 1 | g.209627591G>A | CA1375628 | LAMB3 | c.1289-12C>T (n.1289-12C>T) c.1097-12C>T (n.1097-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627591G>C | CA529000266 | LAMB3 | c.1289-12C>G (n.1289-12C>G) c.1097-12C>G (n.1097-12C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209627591G= | CA2484299974 | LAMB3 | c.1289-12C= (n.1289-12C=) c.1097-12C= (n.1097-12C=) | |
| 1 | g.209627592A= | CA1149059969 | LAMB3 | c.1289-13T= (n.1289-13T=) c.1097-13T= (n.1097-13T=) | |
| 1 | g.209627592A>T | CA1375629 | LAMB3 | c.1289-13T>A (n.1289-13T>A) c.1097-13T>A (n.1097-13T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627593G>C | CA2739275560 | LAMB3 | c.1289-14C>G (n.1289-14C>G) c.1097-14C>G (n.1097-14C>G) | ClinVar |
| 1 | g.209627594C>A | CA1375630 | LAMB3 | c.1289-15G>T (n.1289-15G>T) c.1097-15G>T (n.1097-15G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627594C= | CA1141454235 | LAMB3 | c.1289-15G= (n.1289-15G=) c.1097-15G= (n.1097-15G=) | |
| 1 | g.209627596G>C | CA2650322709 | LAMB3 | c.1289-17C>G (n.1289-17C>G) c.1097-17C>G (n.1097-17C>G) | gnomAD v4 |
| 1 | g.209627596G>T | CA2650322710 | LAMB3 | c.1289-17C>A (n.1289-17C>A) c.1097-17C>A (n.1097-17C>A) | gnomAD v4 |
| 1 | g.209627597C= | CA2484299975 | LAMB3 | c.1289-18G= (n.1289-18G=) c.1097-18G= (n.1097-18G=) | |
| 1 | g.209627597C>T | CA529000267 | LAMB3 | c.1289-18G>A (n.1289-18G>A) c.1097-18G>A (n.1097-18G>A) | dbSNP gnomAD v2 |
| 1 | g.209627598T>G | CA1375631 | LAMB3 | c.1289-19A>C (n.1289-19A>C) c.1097-19A>C (n.1097-19A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209627598T= | CA1141235891 | LAMB3 | c.1289-19A= (n.1289-19A=) c.1097-19A= (n.1097-19A=) | |
| 1 | g.209627601G>A | CA2484299976 | LAMB3 | c.1289-22C>T (n.1289-22C>T) c.1097-22C>T (n.1097-22C>T) | dbSNP |
| 1 | g.209627601G= | CA2484299977 | LAMB3 | c.1289-22C= (n.1289-22C=) c.1097-22C= (n.1097-22C=) | |
| 1 | g.209627601G>T | CA2650322711 | LAMB3 | c.1289-22C>A (n.1289-22C>A) c.1097-22C>A (n.1097-22C>A) | gnomAD v4 |
| 1 | g.209627602C= | CA2484299978 | LAMB3 | c.1289-23G= (n.1289-23G=) c.1097-23G= (n.1097-23G=) | |
| 1 | g.209627602C>T | CA1011767740 | LAMB3 | c.1289-23G>A (n.1289-23G>A) c.1097-23G>A (n.1097-23G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209627603T>C | CA2574001442 | LAMB3 | c.1289-24A>G (n.1289-24A>G) c.1097-24A>G (n.1097-24A>G) | |
| 1 | g.209627604C= | CA2484299979 | LAMB3 | c.1289-25G= (n.1289-25G=) c.1097-25G= (n.1097-25G=) | |
| 1 | g.209627604C>G | CA2484299980 | LAMB3 | c.1289-25G>C (n.1289-25G>C) c.1097-25G>C (n.1097-25G>C) | dbSNP gnomAD v4 |
| 1 | g.209627604C>T | CA2747563168 | LAMB3 | c.1289-25G>A (n.1289-25G>A) c.1097-25G>A (n.1097-25G>A) | |
| 1 | g.209627605A= | CA2484299981 | LAMB3 | c.1289-26T= (n.1289-26T=) c.1097-26T= (n.1097-26T=) | |
| 1 | g.209627605A>C | CA2574001451 | LAMB3 | c.1289-26T>G (n.1289-26T>G) c.1097-26T>G (n.1097-26T>G) | gnomAD v4 |
| 1 | g.209627605A>G | CA1375632 | LAMB3 | c.1289-26T>C (n.1289-26T>C) c.1097-26T>C (n.1097-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209627607del | CA2574001555 | LAMB3 | c.1289-27del (n.1289-27del) c.1097-27del (n.1097-27del) | |
| 1 | g.209627607G>T | CA2650322712 | LAMB3 | c.1289-28C>A (n.1289-28C>A) c.1097-28C>A (n.1097-28C>A) | gnomAD v4 |
| 1 | g.209627612C>A | CA2484299983 | LAMB3 | c.1289-33G>T (n.1289-33G>T) c.1097-33G>T (n.1097-33G>T) | dbSNP |
| 1 | g.209627612C= | CA2484299982 | LAMB3 | c.1289-33G= (n.1289-33G=) c.1097-33G= (n.1097-33G=) | |
| 1 | g.209627612C>T | CA1375633 | LAMB3 | c.1289-33G>A (n.1289-33G>A) c.1097-33G>A (n.1097-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |