X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup
| ClinVar |
X | g.25007368C>A | CA515947361 | ARX | c.1191G>T (p.Gly397=)
| gnomAD v4 |
X | g.25007368C>G | CA515947362 | ARX | c.1191G>C (p.Gly397=)
| |
X | g.25007368C>T | CA515947363 | ARX | c.1191G>A (p.Gly397=)
| gnomAD v4 |
X | g.25007369C>A | CA412611535 | ARX | c.1190G>T (p.Gly397Val)
| gnomAD v4 |
X | g.25007369C>G | CA412611536 | ARX | c.1190G>C (p.Gly397Ala)
| |
X | g.25007369C>T | CA412611537 | ARX | c.1190G>A (p.Gly397Glu)
| gnomAD v4 |
X | g.25007370C>A | CA412611538 | ARX | c.1189G>T (p.Gly397Trp)
| gnomAD v4 |
X | g.25007370C= | CA2420207097 | ARX | c.1189G= (p.Gly397=)
| |
X | g.25007370C>G | CA412611539 | ARX | c.1189G>C (p.Gly397Arg)
| gnomAD v4 |
X | g.25007370C>T | CA412611540 | ARX | c.1189G>A (p.Gly397Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007371A>C | CA515947368 | ARX | c.1188T>G (p.Pro396=)
| |
X | g.25007371A>G | CA515947369 | ARX | c.1188T>C (p.Pro396=)
| gnomAD v4 |
X | g.25007371A>T | CA515947370 | ARX | c.1188T>A (p.Pro396=)
| |
X | g.25007371_25007372delinsAG | CA2420207098 | ARX | c.1187_1188delinsCT (p.Pro396=)
| |
X | g.25007372G>A | CA412611541 | ARX | c.1187C>T (p.Pro396Leu)
| gnomAD v4 |
X | g.25007372G>C | CA412611542 | ARX | c.1187C>G (p.Pro396Arg)
| |
X | g.25007372G= | CA2420207099 | ARX | c.1187C= (p.Pro396=)
| |
X | g.25007372G>T | CA412611543 | ARX | c.1187C>A (p.Pro396His)
| dbSNP gnomAD v4 |
X | g.25007377dup | CA658682663 | ARX | c.1187dup (p.Gly397TrpfsTer?)
| ClinVar dbSNP |
X | g.25007377del | CA641364597 | ARX | c.1187del (p.Pro396LeufsTer?)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.25007374_25007381del | CA2740092069 | ARX | c.1180_1187del (p.His394TrpfsTer?)
| ClinVar |
X | g.25007373G>A | CA412611544 | ARX | c.1186C>T (p.Pro396Ser)
| dbSNP gnomAD v4 |
X | g.25007373G>C | CA10373823 | ARX | c.1186C>G (p.Pro396Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007373G= | CA2420207100 | ARX | c.1186C= (p.Pro396=)
| |
X | g.25007373G>T | CA327732621 | ARX | c.1186C>A (p.Pro396Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007374G>A | CA515947374 | ARX | c.1185C>T (p.Pro395=)
| ClinVar |
X | g.25007374G>C | CA515947375 | ARX | c.1185C>G (p.Pro395=)
| gnomAD v4 |
X | g.25007374G>T | CA515947377 | ARX | c.1185C>A (p.Pro395=)
| gnomAD v4 |
X | g.25007375G>A | CA412611545 | ARX | c.1184C>T (p.Pro395Leu)
| |
X | g.25007375G>C | CA412611546 | ARX | c.1184C>G (p.Pro395Arg)
| |
X | g.25007375G>T | CA412611547 | ARX | c.1184C>A (p.Pro395His)
| gnomAD v4 |
X | g.25007376G>A | CA412611548 | ARX | c.1183C>T (p.Pro395Ser)
| dbSNP gnomAD v4 |
X | g.25007376G>C | CA412611549 | ARX | c.1183C>G (p.Pro395Ala)
| |
X | g.25007376G= | CA2420207101 | ARX | c.1183C= (p.Pro395=)
| |
X | g.25007376G>T | CA412611550 | ARX | c.1183C>A (p.Pro395Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007377G>A | CA327732622 | ARX | c.1182C>T (p.His394=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007377G>C | CA412611552 | ARX | c.1182C>G (p.His394Gln)
| |
X | g.25007377G= | CA2420207102 | ARX | c.1182C= (p.His394=)
| |
X | g.25007377G>T | CA412611551 | ARX | c.1182C>A (p.His394Gln)
| gnomAD v3 gnomAD v4 |
X | g.25007378T>A | CA412611553 | ARX | c.1181A>T (p.His394Leu)
| |
X | g.25007378T>C | CA412611554 | ARX | c.1181A>G (p.His394Arg)
| gnomAD v4 |
X | g.25007378T>G | CA412611555 | ARX | c.1181A>C (p.His394Pro)
| dbSNP |
X | g.25007379G>A | CA412611556 | ARX | c.1180C>T (p.His394Tyr)
| gnomAD v4 |
X | g.25007379G>C | CA412611557 | ARX | c.1180C>G (p.His394Asp)
| |
X | g.25007379G>T | CA412611558 | ARX | c.1180C>A (p.His394Asn)
| gnomAD v4 |
X | g.25007380G>A | CA515947381 | ARX | c.1179C>T (p.Thr393=)
| gnomAD v4 COSMIC |
X | g.25007380G>C | CA515947383 | ARX | c.1179C>G (p.Thr393=)
| |
X | g.25007380G>T | CA515947382 | ARX | c.1179C>A (p.Thr393=)
| gnomAD v4 |
X | g.25007381G>A | CA412611559 | ARX | c.1178C>T (p.Thr393Ile)
| gnomAD v4 |
X | g.25007381G>C | CA412611561 | ARX | c.1178C>G (p.Thr393Ser)
| |
X | g.25007381G>T | CA412611560 | ARX | c.1178C>A (p.Thr393Asn)
| gnomAD v4 |
X | g.25007382T>A | CA412611562 | ARX | c.1177A>T (p.Thr393Ser)
| |
X | g.25007382T>C | CA412611563 | ARX | c.1177A>G (p.Thr393Ala)
| |
X | g.25007382T>G | CA412611564 | ARX | c.1177A>C (p.Thr393Pro)
| |
X | g.25007383C>A | CA412611565 | ARX | c.1176G>T (p.Gln392His)
| gnomAD v4 |
X | g.25007383C>G | CA412611566 | ARX | c.1176G>C (p.Gln392His)
| |
X | g.25007383C>T | CA515947387 | ARX | c.1176G>A (p.Gln392=)
| |
X | g.25007384T>A | CA412611567 | ARX | c.1175A>T (p.Gln392Leu)
| gnomAD v4 |
X | g.25007384T>C | CA412611568 | ARX | c.1175A>G (p.Gln392Arg)
| gnomAD v4 |
X | g.25007384T>G | CA412611569 | ARX | c.1175A>C (p.Gln392Pro)
| |
X | g.25007385G>A | CA412611570 | ARX | c.1174C>T (p.Gln392Ter)
| gnomAD v4 |
X | g.25007385G>C | CA412611571 | ARX | c.1174C>G (p.Gln392Glu)
| |
X | g.25007385G>T | CA412611572 | ARX | c.1174C>A (p.Gln392Lys)
| gnomAD v4 COSMIC |
X | g.25007386C>A | CA515947390 | ARX | c.1173G>T (p.Ala391=)
| gnomAD v4 |
X | g.25007386C= | CA2420207103 | ARX | c.1173G= (p.Ala391=)
| |
X | g.25007386C>G | CA515947392 | ARX | c.1173G>C (p.Ala391=)
| |
X | g.25007386C>T | CA515947391 | ARX | c.1173G>A (p.Ala391=)
| ClinVar dbSNP gnomAD v4 |
X | g.25007387G>A | CA412611573 | ARX | c.1172C>T (p.Ala391Val)
| gnomAD v4 |
X | g.25007387G>C | CA412611575 | ARX | c.1172C>G (p.Ala391Gly)
| dbSNP gnomAD v2 |
X | g.25007387G= | CA2420207104 | ARX | c.1172C= (p.Ala391=)
| |
X | g.25007387G>T | CA412611574 | ARX | c.1172C>A (p.Ala391Glu)
| gnomAD v4 COSMIC |
X | g.25007388C>A | CA412611576 | ARX | c.1171G>T (p.Ala391Ser)
| gnomAD v4 |
X | g.25007388C= | CA2420207105 | ARX | c.1171G= (p.Ala391=)
| |
X | g.25007388C>G | CA412611578 | ARX | c.1171G>C (p.Ala391Pro)
| |
X | g.25007388C>T | CA412611577 | ARX | c.1171G>A (p.Ala391Thr)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25007389G>A | CA10373824 | ARX | c.1170C>T (p.Gly390=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007389G>C | CA515947399 | ARX | c.1170C>G (p.Gly390=)
| gnomAD v4 |
X | g.25007389G= | CA2420207106 | ARX | c.1170C= (p.Gly390=)
| |
X | g.25007389G>T | CA515947400 | ARX | c.1170C>A (p.Gly390=)
| gnomAD v4 |
X | g.25007390C>A | CA412611579 | ARX | c.1169G>T (p.Gly390Val)
| gnomAD v4 |
X | g.25007390C= | CA2420207107 | ARX | c.1169G= (p.Gly390=)
| |
X | g.25007390C>G | CA412611580 | ARX | c.1169G>C (p.Gly390Ala)
| |
X | g.25007390C>T | CA412611581 | ARX | c.1169G>A (p.Gly390Asp)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25007391C>A | CA412611582 | ARX | c.1168G>T (p.Gly390Cys)
| gnomAD v4 |
X | g.25007391C>G | CA412611583 | ARX | c.1168G>C (p.Gly390Arg)
| |
X | g.25007391C>T | CA412611584 | ARX | c.1168G>A (p.Gly390Ser)
| gnomAD v4 |
X | g.25007392T>A | CA515947403 | ARX | c.1167A>T (p.Ala389=)
| |
X | g.25007392T>C | CA515947404 | ARX | c.1167A>G (p.Ala389=)
| gnomAD v4 |
X | g.25007392T>G | CA515947405 | ARX | c.1167A>C (p.Ala389=)
| gnomAD v4 |
X | g.25007393G>A | CA412611585 | ARX | c.1166C>T (p.Ala389Val)
| gnomAD v4 |
X | g.25007393G>C | CA412611586 | ARX | c.1166C>G (p.Ala389Gly)
| gnomAD v4 |
X | g.25007393G>T | CA412611587 | ARX | c.1166C>A (p.Ala389Glu)
| gnomAD v4 |
X | g.25007394C>A | CA412611590 | ARX | c.1165G>T (p.Ala389Ser)
| gnomAD v4 |
X | g.25007394C= | CA2420207108 | ARX | c.1165G= (p.Ala389=)
| |
X | g.25007394C>G | CA412611589 | ARX | c.1165G>C (p.Ala389Pro)
| |
X | g.25007394C>T | CA412611588 | ARX | c.1165G>A (p.Ala389Thr)
| ClinVar gnomAD v4 |
X | g.25007395del | CA2820110004 | ARX | c.1165del (p.Ala389GlnfsTer?)
| |
X | g.25007395C>A | CA412611591 | ARX | c.1164G>T (p.Lys388Asn)
| gnomAD v4 |
X | g.25007395C>G | CA412611592 | ARX | c.1164G>C (p.Lys388Asn)
| gnomAD v4 |
X | g.25007395C>T | CA515947408 | ARX | c.1164G>A (p.Lys388=)
| gnomAD v4 |
X | g.25007397_25007398insTGCTT | CA213345 | ARX | c.1164_1165insCAAAG (p.Ala389GlnfsTer?)
| ClinVar dbSNP |
X | g.25007396T>A | CA412611593 | ARX | c.1163A>T (p.Lys388Met)
| gnomAD v4 |
X | g.25007396T>C | CA412611594 | ARX | c.1163A>G (p.Lys388Arg)
| |
X | g.25007396T>G | CA412611595 | ARX | c.1163A>C (p.Lys388Thr)
| |
X | g.25007397del | CA2579637355 | ARX | c.1163del (p.Lys388ArgfsTer?)
| gnomAD v4 |
X | g.25007397T>A | CA412611596 | ARX | c.1162A>T (p.Lys388Ter)
| |
X | g.25007397T>C | CA412611597 | ARX | c.1162A>G (p.Lys388Glu)
| gnomAD v4 |
X | g.25007397T>G | CA412611598 | ARX | c.1162A>C (p.Lys388Gln)
| |
X | g.25007398C>A | CA412611599 | ARX | c.1161G>T (p.Glu387Asp)
| gnomAD v4 |
X | g.25007398C= | CA2420207109 | ARX | c.1161G= (p.Glu387=)
| |
X | g.25007398C>G | CA412611600 | ARX | c.1161G>C (p.Glu387Asp)
| ClinVar |
X | g.25007398C>T | CA515947417 | ARX | c.1161G>A (p.Glu387=)
| dbSNP gnomAD v4 |
X | g.25007399T>A | CA412611602 | ARX | c.1160A>T (p.Glu387Val)
| |
X | g.25007399T>C | CA412611603 | ARX | c.1160A>G (p.Glu387Gly)
| gnomAD v4 |
X | g.25007399T>G | CA412611601 | ARX | c.1160A>C (p.Glu387Ala)
| |
X | g.25007400C>A | CA412611604 | ARX | c.1159G>T (p.Glu387Ter)
| gnomAD v4 |
X | g.25007400C>G | CA412611605 | ARX | c.1159G>C (p.Glu387Gln)
| gnomAD v4 |
X | g.25007400C>T | CA412611606 | ARX | c.1159G>A (p.Glu387Lys)
| gnomAD v4 |
X | g.25007402del | CA2693353353 | ARX | c.1159del (p.Glu387ArgfsTer?)
| gnomAD v4 |
X | g.25007401C>A | CA515947424 | ARX | c.1158G>T (p.Arg386=)
| ClinVar gnomAD v4 |
X | g.25007401C= | CA2420207110 | ARX | c.1158G= (p.Arg386=)
| |
X | g.25007401C>G | CA515947423 | ARX | c.1158G>C (p.Arg386=)
| |
X | g.25007401C>T | CA515947425 | ARX | c.1158G>A (p.Arg386=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25007402C>A | CA412611607 | ARX | c.1157G>T (p.Arg386Leu)
| gnomAD v4 |
X | g.25007402C>G | CA412611608 | ARX | c.1157G>C (p.Arg386Pro)
| gnomAD v4 |
X | g.25007402C>T | CA412611609 | ARX | c.1157G>A (p.Arg386Gln)
| gnomAD v4 |
X | g.25007403G>A | CA412611610 | ARX | c.1156C>T (p.Arg386Trp)
| gnomAD v4 |
X | g.25007403G>C | CA412611611 | ARX | c.1156C>G (p.Arg386Gly)
| |
X | g.25007403G>T | CA515947429 | ARX | c.1156C>A (p.Arg386=)
| gnomAD v4 |
X | g.25007404C>A | CA412611612 | ARX | c.1155G>T (p.Lys385Asn)
| gnomAD v4 |
X | g.25007404C= | CA2420207111 | ARX | c.1155G= (p.Lys385=)
| |
X | g.25007404C>G | CA412611613 | ARX | c.1155G>C (p.Lys385Asn)
| |
X | g.25007404C>T | CA327732623 | ARX | c.1155G>A (p.Lys385=)
| ClinVar dbSNP gnomAD v4 |
X | g.25007405T>A | CA412611614 | ARX | c.1154A>T (p.Lys385Met)
| gnomAD v4 |
X | g.25007405T>C | CA412611615 | ARX | c.1154A>G (p.Lys385Arg)
| gnomAD v4 |
X | g.25007405T>G | CA412611616 | ARX | c.1154A>C (p.Lys385Thr)
| |
X | g.25007406T>A | CA412611619 | ARX | c.1153A>T (p.Lys385Ter)
| gnomAD v4 |
X | g.25007406T>C | CA412611618 | ARX | c.1153A>G (p.Lys385Glu)
| gnomAD v4 |
X | g.25007406T>G | CA412611617 | ARX | c.1153A>C (p.Lys385Gln)
| |
X | g.25007406_25007408delinsTGC | CA2420207112 | ARX | c.1151_1153delinsGCA (p.Arg384=)
| |
X | g.25007407G>A | CA515947443 | ARX | c.1152C>T (p.Arg384=)
| gnomAD v4 |
X | g.25007407G>C | CA515947438 | ARX | c.1152C>G (p.Arg384=)
| gnomAD v4 |
X | g.25007407G>T | CA515947442 | ARX | c.1152C>A (p.Arg384=)
| gnomAD v4 |
X | g.25007409_25007410del | CA224120 | ARX | c.1151_1152del (p.Arg384GlnfsTer?)
| ClinVar dbSNP |
X | g.25007408C>A | CA412611620 | ARX | c.1151G>T (p.Arg384Leu)
| ClinVar dbSNP gnomAD v4 |
X | g.25007408C= | CA2420207113 | ARX | c.1151G= (p.Arg384=)
| |
X | g.25007408C>G | CA412611621 | ARX | c.1151G>C (p.Arg384Pro)
| |
X | g.25007408C>T | CA16621885 | ARX | c.1151G>A (p.Arg384His)
| ClinVar dbSNP gnomAD v4 |
X | g.25007409G>A | CA412611622 | ARX | c.1150C>T (p.Arg384Cys)
| ClinVar gnomAD v4 |
X | g.25007409G>C | CA412611623 | ARX | c.1150C>G (p.Arg384Gly)
| |
X | g.25007409G>T | CA412611624 | ARX | c.1150C>A (p.Arg384Ser)
| gnomAD v4 |
X | g.25007410C>A | CA412611625 | ARX | c.1149G>T (p.Trp383Cys)
| gnomAD v4 |
X | g.25007410C>G | CA412611626 | ARX | c.1149G>C (p.Trp383Cys)
| gnomAD v4 |
X | g.25007410C>T | CA412611627 | ARX | c.1149G>A (p.Trp383Ter)
| gnomAD v4 |
X | g.25007411C>A | CA412611628 | ARX | c.1148G>T (p.Trp383Leu)
| gnomAD v4 |
X | g.25007411C>G | CA412611629 | ARX | c.1148G>C (p.Trp383Ser)
| |
X | g.25007411C>T | CA412611630 | ARX | c.1148G>A (p.Trp383Ter)
| |
X | g.25007412A>C | CA412611632 | ARX | c.1147T>G (p.Trp383Gly)
| |
X | g.25007412A>G | CA412611633 | ARX | c.1147T>C (p.Trp383Arg)
| gnomAD v4 |
X | g.25007412A>T | CA412611631 | ARX | c.1147T>A (p.Trp383Arg)
| gnomAD v4 |
X | g.25007413C>A | CA412611635 | ARX | c.1146G>T (p.Lys382Asn)
| gnomAD v4 |
X | g.25007413C>G | CA412611634 | ARX | c.1146G>C (p.Lys382Asn)
| gnomAD v4 |
X | g.25007413C>T | CA515947454 | ARX | c.1146G>A (p.Lys382=)
| |
X | g.25007414T>A | CA412611637 | ARX | c.1145A>T (p.Lys382Met)
| gnomAD v4 |
X | g.25007414T>C | CA412611636 | ARX | c.1145A>G (p.Lys382Arg)
| gnomAD v4 |
X | g.25007414T>G | CA412611638 | ARX | c.1145A>C (p.Lys382Thr)
| |
X | g.25007415T>A | CA412611639 | ARX | c.1144A>T (p.Lys382Ter)
| gnomAD v4 |
X | g.25007415T>C | CA412611641 | ARX | c.1144A>G (p.Lys382Glu)
| |
X | g.25007415T>G | CA412611640 | ARX | c.1144A>C (p.Lys382Gln)
| |
X | g.25007416G>A | CA515947462 | ARX | c.1143C>T (p.Ala381=)
| ClinVar gnomAD v4 |
X | g.25007416G>C | CA515947460 | ARX | c.1143C>G (p.Ala381=)
| |
X | g.25007416G>T | CA515947458 | ARX | c.1143C>A (p.Ala381=)
| gnomAD v4 |
X | g.25007417G>A | CA412611642 | ARX | c.1142C>T (p.Ala381Val)
| gnomAD v4 |
X | g.25007417G>C | CA412611643 | ARX | c.1142C>G (p.Ala381Gly)
| ClinVar |
X | g.25007417G>T | CA412611644 | ARX | c.1142C>A (p.Ala381Asp)
| gnomAD v4 |
X | g.25007417_25007418delinsGC | CA2420207114 | ARX | c.1141_1142delinsGC (p.Ala381=)
| |
X | g.25007418C>A | CA412611645 | ARX | c.1141G>T (p.Ala381Ser)
| gnomAD v4 |
X | g.25007418C= | CA2420207115 | ARX | c.1141G= (p.Ala381=)
| |
X | g.25007418C>G | CA412611646 | ARX | c.1141G>C (p.Ala381Pro)
| |
X | g.25007418C>T | CA294628 | ARX | c.1141G>A (p.Ala381Thr)
| ClinVar dbSNP gnomAD v4 |
X | g.25007420del | CA645373293 | ARX | c.1141del (p.Ala381ProfsTer?)
| ClinVar dbSNP |
X | g.25007419C>A | CA515947466 | ARX | c.1140G>T (p.Arg380=)
| gnomAD v4 |
X | g.25007419C>G | CA515947467 | ARX | c.1140G>C (p.Arg380=)
| |
X | g.25007419C>T | CA515947468 | ARX | c.1140G>A (p.Arg380=)
| gnomAD v4 |
X | g.25007420C>A | CA327732624 | ARX | c.1139G>T (p.Arg380Leu)
| dbSNP gnomAD v4 |
X | g.25007420C= | CA2420207116 | ARX | c.1139G= (p.Arg380=)
| |
X | g.25007420C>G | CA412611647 | ARX | c.1139G>C (p.Arg380Pro)
| |
X | g.25007420C>T | CA412611648 | ARX | c.1139G>A (p.Arg380Gln)
| gnomAD v4 |
X | g.25007421G>A | CA412611649 | ARX | c.1138C>T (p.Arg380Trp)
| gnomAD v4 |
X | g.25007421G>C | CA412611650 | ARX | c.1138C>G (p.Arg380Gly)
| |
X | g.25007421G>T | CA515947473 | ARX | c.1138C>A (p.Arg380=)
| gnomAD v4 |
X | g.25007422A>C | CA515947475 | ARX | c.1137T>G (p.Arg379=)
| |
X | g.25007422A>G | CA515947476 | ARX | c.1137T>C (p.Arg379=)
| COSMIC |
X | g.25007422A>T | CA515947479 | ARX | c.1137T>A (p.Arg379=)
| |
X | g.25007423C>A | CA412611653 | ARX | c.1136G>T (p.Arg379Leu)
| gnomAD v4 |
X | g.25007423C>G | CA412611651 | ARX | c.1136G>C (p.Arg379Pro)
| gnomAD v4 |
X | g.25007423C>T | CA412611652 | ARX | c.1136G>A (p.Arg379His)
| gnomAD v4 |
X | g.25007424G>A | CA412611654 | ARX | c.1135C>T (p.Arg379Cys)
| ClinVar dbSNP gnomAD v4 |
X | g.25007424G>C | CA412611655 | ARX | c.1135C>G (p.Arg379Gly)
| ClinVar dbSNP |
X | g.25007424G= | CA2420207117 | ARX | c.1135C= (p.Arg379=)
| |
X | g.25007424G>T | CA412611656 | ARX | c.1135C>A (p.Arg379Ser)
| ClinVar dbSNP gnomAD v4 |
X | g.25007425G>A | CA515947507 | ARX | c.1134C>T (p.Asn378=)
| gnomAD v4 |
X | g.25007425G>C | CA412611657 | ARX | c.1134C>G (p.Asn378Lys)
| |
X | g.25007425G= | CA2420207118 | ARX | c.1134C= (p.Asn378=)
| |
X | g.25007425G>T | CA213230 | ARX | c.1134C>A (p.Asn378Lys)
| ClinVar dbSNP gnomAD v4 |
X | g.25007426T>A | CA412611658 | ARX | c.1133A>T (p.Asn378Ile)
| gnomAD v4 |
X | g.25007426T>C | CA412611659 | ARX | c.1133A>G (p.Asn378Ser)
| gnomAD v4 |
X | g.25007426T>G | CA412611660 | ARX | c.1133A>C (p.Asn378Thr)
| |
X | g.25007427T>A | CA412611661 | ARX | c.1132A>T (p.Asn378Tyr)
| |
X | g.25007427T>C | CA412611662 | ARX | c.1132A>G (p.Asn378Asp)
| gnomAD v4 |
X | g.25007427T>G | CA412611663 | ARX | c.1132A>C (p.Asn378His)
| |
X | g.25007428C>A | CA412611664 | ARX | c.1131G>T (p.Gln377His)
| gnomAD v4 |
X | g.25007428C>G | CA412611665 | ARX | c.1131G>C (p.Gln377His)
| |
X | g.25007428C>T | CA515947519 | ARX | c.1131G>A (p.Gln377=)
| gnomAD v4 |
X | g.25007429T>A | CA412611666 | ARX | c.1130A>T (p.Gln377Leu)
| gnomAD v4 |
X | g.25007429T>C | CA412611667 | ARX | c.1130A>G (p.Gln377Arg)
| gnomAD v4 |
X | g.25007429T>G | CA412611668 | ARX | c.1130A>C (p.Gln377Pro)
| |
X | g.25007429_25007430delinsTG | CA2420207119 | ARX | c.1129_1130delinsCA (p.Gln377=)
| |
X | g.25007430G>A | CA412611669 | ARX | c.1129C>T (p.Gln377Ter)
| gnomAD v4 |
X | g.25007430G>C | CA412611670 | ARX | c.1129C>G (p.Gln377Glu)
| gnomAD v4 |
X | g.25007430G>T | CA412611671 | ARX | c.1129C>A (p.Gln377Lys)
| gnomAD v4 |
X | g.25007431del | CA915950805 | ARX | c.1129del (p.Gln377ArgfsTer?)
| ClinVar dbSNP |
X | g.25007431G>A | CA515947525 | ARX | c.1128C>T (p.Phe376=)
| gnomAD v4 |
X | g.25007431G>C | CA412611672 | ARX | c.1128C>G (p.Phe376Leu)
| ClinVar dbSNP |
X | g.25007431G= | CA2420207120 | ARX | c.1128C= (p.Phe376=)
| |
X | g.25007431G>T | CA412611673 | ARX | c.1128C>A (p.Phe376Leu)
| gnomAD v4 |
X | g.25007432A>C | CA412611674 | ARX | c.1127T>G (p.Phe376Cys)
| |
X | g.25007432A>G | CA412611675 | ARX | c.1127T>C (p.Phe376Ser)
| gnomAD v4 |
X | g.25007432A>T | CA412611676 | ARX | c.1127T>A (p.Phe376Tyr)
| |
X | g.25007433A>C | CA412611679 | ARX | c.1126T>G (p.Phe376Val)
| |
X | g.25007433A>G | CA412611678 | ARX | c.1126T>C (p.Phe376Leu)
| gnomAD v4 |
X | g.25007433A>T | CA412611677 | ARX | c.1126T>A (p.Phe376Ile)
| |
X | g.25007434C>A | CA412611680 | ARX | c.1125G>T (p.Trp375Cys)
| gnomAD v4 |
X | g.25007434C>G | CA412611681 | ARX | c.1125G>C (p.Trp375Cys)
| |
X | g.25007434C>T | CA412611682 | ARX | c.1125G>A (p.Trp375Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.25007435C>A | CA412611683 | ARX | c.1124G>T (p.Trp375Leu)
| gnomAD v4 |
X | g.25007435C>G | CA412611684 | ARX | c.1124G>C (p.Trp375Ser)
| |
X | g.25007435C>T | CA412611685 | ARX | c.1124G>A (p.Trp375Ter)
| gnomAD v4 |
X | g.25007436A>C | CA412611686 | ARX | c.1123T>G (p.Trp375Gly)
| gnomAD v4 |
X | g.25007436A>G | CA412611687 | ARX | c.1123T>C (p.Trp375Arg)
| gnomAD v4 |
X | g.25007436A>T | CA412611688 | ARX | c.1123T>A (p.Trp375Arg)
| gnomAD v4 |
X | g.25007437G>A | CA10373825 | ARX | c.1122C>T (p.Val374=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007437G>C | CA515947538 | ARX | c.1122C>G (p.Val374=)
| gnomAD v4 |
X | g.25007437G= | CA2420207121 | ARX | c.1122C= (p.Val374=)
| |
X | g.25007437G>T | CA515947541 | ARX | c.1122C>A (p.Val374=)
| gnomAD v4 |
X | g.25007438A= | CA2420207122 | ARX | c.1121T= (p.Val374=)
| |
X | g.25007438A>C | CA412611689 | ARX | c.1121T>G (p.Val374Gly)
| dbSNP |
X | g.25007438A>G | CA412611690 | ARX | c.1121T>C (p.Val374Ala)
| gnomAD v4 |
X | g.25007438A>T | CA213228 | ARX | c.1121T>A (p.Val374Asp)
| ClinVar dbSNP |
X | g.25007439C>A | CA412611692 | ARX | c.1120G>T (p.Val374Phe)
| gnomAD v4 |
X | g.25007439C>G | CA412611693 | ARX | c.1120G>C (p.Val374Leu)
| |
X | g.25007439C>T | CA412611691 | ARX | c.1120G>A (p.Val374Ile)
| gnomAD v4 |
X | g.25007440C>A | CA412611696 | ARX | c.1120-1G>T (n.1120-1G>T)
| gnomAD v4 |
X | g.25007440C>G | CA412611694 | ARX | c.1120-1G>C (n.1120-1G>C)
| |
X | g.25007440C>T | CA412611695 | ARX | c.1120-1G>A (n.1120-1G>A)
| gnomAD v4 |
X | g.25007441T>A | CA412611697 | ARX | c.1120-2A>T (n.1120-2A>T)
| gnomAD v4 |
X | g.25007441T>C | CA412611698 | ARX | c.1120-2A>G (n.1120-2A>G)
| ClinVar dbSNP gnomAD v4 |
X | g.25007441T>G | CA412611699 | ARX | c.1120-2A>C (n.1120-2A>C)
| |
X | g.25007441_25007442del | CA2579637356 | ARX | c.1120-3_1120-2del (n.1120-3_1120-2del)
| |
X | g.25007442G>A | CA2693353354 | ARX | c.1120-3C>T (n.1120-3C>T)
| gnomAD v4 |
X | g.25007442G>T | CA2693353355 | ARX | c.1120-3C>A (n.1120-3C>A)
| gnomAD v4 |
X | g.25007443C>A | CA2693353356 | ARX | c.1120-4G>T (n.1120-4G>T)
| gnomAD v4 |
X | g.25007443C>G | CA2693353357 | ARX | c.1120-4G>C (n.1120-4G>C)
| gnomAD v4 |
X | g.25007443C>T | CA2579637357 | ARX | c.1120-4G>A (n.1120-4G>A)
| ClinVar gnomAD v4 |
X | g.25007444A>G | CA2693353358 | ARX | c.1120-5T>C (n.1120-5T>C)
| gnomAD v4 |
X | g.25007444A>T | CA2693353359 | ARX | c.1120-5T>A (n.1120-5T>A)
| gnomAD v4 |
X | g.25007445del | CA2573158495 | ARX | c.1120-5del (n.1120-5del)
| ClinVar dbSNP |
X | g.25007445A>C | CA2820110010 | ARX | c.1120-6T>G (n.1120-6T>G)
| |
X | g.25007445A>G | CA2693353361 | ARX | c.1120-6T>C (n.1120-6T>C)
| gnomAD v4 |
X | g.25007445A>T | CA2693353360 | ARX | c.1120-6T>A (n.1120-6T>A)
| gnomAD v4 |
X | g.25007446G>A | CA2693353362 | ARX | c.1120-7C>T (n.1120-7C>T)
| gnomAD v4 |
X | g.25007446G>T | CA2693353363 | ARX | c.1120-7C>A (n.1120-7C>A)
| gnomAD v4 |
X | g.25007447G>A | CA2693353364 | ARX | c.1120-8C>T (n.1120-8C>T)
| gnomAD v4 |
X | g.25007447G>T | CA2693353365 | ARX | c.1120-8C>A (n.1120-8C>A)
| gnomAD v4 |
X | g.25007448C>A | CA2693353366 | ARX | c.1120-9G>T (n.1120-9G>T)
| gnomAD v4 |
X | g.25007448C>G | CA2693353367 | ARX | c.1120-9G>C (n.1120-9G>C)
| gnomAD v4 |
X | g.25007448C>T | CA2693353368 | ARX | c.1120-9G>A (n.1120-9G>A)
| gnomAD v4 |
X | g.25007448_25007450delinsCAG | CA2420207123 | ARX | c.1120-11_1120-9delinsCTG (n.1120-11_1120-9delinsCTG)
| |
X | g.25007449A>G | CA2693353369 | ARX | c.1120-10T>C (n.1120-10T>C)
| gnomAD v4 |
X | g.25007449A>T | CA2693353370 | ARX | c.1120-10T>A (n.1120-10T>A)
| gnomAD v4 |
X | g.25007455_25007456del | CA10373826 | ARX | c.1120-11_1120-10del (n.1120-11_1120-10del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007450G>A | CA2579637358 | ARX | c.1120-11C>T (n.1120-11C>T)
| gnomAD v4 |
X | g.25007450G>T | CA2693353371 | ARX | c.1120-11C>A (n.1120-11C>A)
| gnomAD v4 |
X | g.25007451A>C | CA2580100524 | ARX | c.1120-12T>G (n.1120-12T>G)
| ClinVar |
X | g.25007451A>G | CA2693353373 | ARX | c.1120-12T>C (n.1120-12T>C)
| gnomAD v4 |
X | g.25007451A>T | CA2693353372 | ARX | c.1120-12T>A (n.1120-12T>A)
| gnomAD v4 |
X | g.25007452G>A | CA641364598 | ARX | c.1120-13C>T (n.1120-13C>T)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25007452G>C | CA2693353374 | ARX | c.1120-13C>G (n.1120-13C>G)
| gnomAD v4 |
X | g.25007452G= | CA2420207124 | ARX | c.1120-13C= (n.1120-13C=)
| |
X | g.25007452G>T | CA2693353375 | ARX | c.1120-13C>A (n.1120-13C>A)
| gnomAD v4 |
X | g.25007453A>G | CA2693353376 | ARX | c.1120-14T>C (n.1120-14T>C)
| gnomAD v4 |
X | g.25007453A>T | CA2693353377 | ARX | c.1120-14T>A (n.1120-14T>A)
| gnomAD v4 |
X | g.25007454G>A | CA641364599 | ARX | c.1120-15C>T (n.1120-15C>T)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25007454G>C | CA2693353379 | ARX | c.1120-15C>G (n.1120-15C>G)
| gnomAD v4 |
X | g.25007454G= | CA2420207125 | ARX | c.1120-15C= (n.1120-15C=)
| |
X | g.25007454G>T | CA2693353378 | ARX | c.1120-15C>A (n.1120-15C>A)
| gnomAD v4 |
X | g.25007456G>A | CA2693353380 | ARX | c.1120-17C>T (n.1120-17C>T)
| gnomAD v4 |
X | g.25007456G>T | CA2693353381 | ARX | c.1120-17C>A (n.1120-17C>A)
| gnomAD v4 |
X | g.25007457C>A | CA2693353382 | ARX | c.1120-18G>T (n.1120-18G>T)
| gnomAD v4 |
X | g.25007457C= | CA2420207126 | ARX | c.1120-18G= (n.1120-18G=)
| |
X | g.25007457C>T | CA2420207127 | ARX | c.1120-18G>A (n.1120-18G>A)
| dbSNP gnomAD v4 |
X | g.25007459del | CA2579637359 | ARX | c.1120-18del (n.1120-18del)
| gnomAD v4 |
X | g.25007458C>A | CA2693353383 | ARX | c.1120-19G>T (n.1120-19G>T)
| gnomAD v4 |
X | g.25007459C>A | CA2693353384 | ARX | c.1120-20G>T (n.1120-20G>T)
| gnomAD v4 |
X | g.25007459C>G | CA2693353386 | ARX | c.1120-20G>C (n.1120-20G>C)
| gnomAD v4 |
X | g.25007459C>T | CA2693353385 | ARX | c.1120-20G>A (n.1120-20G>A)
| gnomAD v4 |
X | g.25007460A>C | CA2820110020 | ARX | c.1120-21T>G (n.1120-21T>G)
| |
X | g.25007460A>G | CA2693353387 | ARX | c.1120-21T>C (n.1120-21T>C)
| gnomAD v4 |
X | g.25007461G>T | CA2579637360 | ARX | c.1120-22C>A (n.1120-22C>A)
| gnomAD v4 |
X | g.25007462G>A | CA2693353388 | ARX | c.1120-23C>T (n.1120-23C>T)
| gnomAD v4 |
X | g.25007462G>T | CA2693353389 | ARX | c.1120-23C>A (n.1120-23C>A)
| gnomAD v4 |
X | g.25007463G>A | CA327732625 | ARX | c.1120-24C>T (n.1120-24C>T)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25007463G= | CA2420207128 | ARX | c.1120-24C= (n.1120-24C=)
| |
X | g.25007463G>T | CA2693353390 | ARX | c.1120-24C>A (n.1120-24C>A)
| gnomAD v4 |
X | g.25007464T= | CA2420207129 | ARX | c.1120-25A= (n.1120-25A=)
| |
X | g.25007464_25007468dup | CA641364600 | ARX | c.1120-29_1120-25dup (n.1120-29_1120-25dup)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25007469_25007478dup | CA641364601 | ARX | c.1120-34_1120-25dup (n.1120-34_1120-25dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007465del | CA2579637361 | ARX | c.1120-26del (n.1120-26del)
| |
X | g.25007465C>A | CA2693353391 | ARX | c.1120-26G>T (n.1120-26G>T)
| gnomAD v4 |
X | g.25007465C= | CA2420207130 | ARX | c.1120-26G= (n.1120-26G=)
| |
X | g.25007465C>G | CA641364602 | ARX | c.1120-26G>C (n.1120-26G>C)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25007465C>T | CA10373828 | ARX | c.1120-26G>A (n.1120-26G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007469_25007473dup | CA10373827 | ARX | c.1120-30_1120-26dup (n.1120-30_1120-26dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007466G>A | CA2693353392 | ARX | c.1120-27C>T (n.1120-27C>T)
| gnomAD v4 |
X | g.25007466G= | CA2420207131 | ARX | c.1120-27C= (n.1120-27C=)
| |
X | g.25007466G>T | CA641364603 | ARX | c.1120-27C>A (n.1120-27C>A)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25007467G>A | CA2693353393 | ARX | c.1120-28C>T (n.1120-28C>T)
| gnomAD v4 |
X | g.25007467G>T | CA2693353394 | ARX | c.1120-28C>A (n.1120-28C>A)
| gnomAD v4 |
X | g.25007468C>A | CA327732626 | ARX | c.1120-29G>T (n.1120-29G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007468C= | CA2420207132 | ARX | c.1120-29G= (n.1120-29G=)
| |
X | g.25007468C>G | CA10373829 | ARX | c.1120-29G>C (n.1120-29G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007468C>T | CA1131755712 | ARX | c.1120-29G>A (n.1120-29G>A)
| dbSNP gnomAD v3 gnomAD v4 |