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.149923632_149923641delinsGCCATAGGGT | CA2478941145 | SF3B4 | c.1176_1185delinsACCCTATGGC (p.Pro392=) | |
| 1 | g.149923633_149923641del | CA2478941146 | SF3B4 | c.1176_1184del (p.Pro393_Gly395del) | dbSNP |
| 1 | g.149923635_149923642delinsATAGGGTG | CA2478941147 | SF3B4 | c.1175_1182delinsCACCCTAT (p.Pro392=) | |
| 1 | g.149923636_149923642del | CA1007570387 | SF3B4 | c.1175_1181del (p.Pro392LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923640G>A | CA342273435 | SF3B4 | c.1177C>T (p.Pro393Ser) | |
| 1 | g.149923640G>C | CA342273436 | SF3B4 | c.1177C>G (p.Pro393Ala) | |
| 1 | g.149923640G= | CA2478941150 | SF3B4 | c.1177C= (p.Pro393=) | |
| 1 | g.149923640G>T | CA1071359 | SF3B4 | c.1177C>A (p.Pro393Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923641T>A | CA420670481 | SF3B4 | c.1176A>T (p.Pro392=) | |
| 1 | g.149923641T>C | CA420670480 | SF3B4 | c.1176A>G (p.Pro392=) | |
| 1 | g.149923641T>G | CA420670479 | SF3B4 | c.1176A>C (p.Pro392=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923641T= | CA2478941151 | SF3B4 | c.1176A= (p.Pro392=) | |
| 1 | g.149923642G>A | CA342273439 | SF3B4 | c.1175C>T (p.Pro392Leu) | dbSNP |
| 1 | g.149923642G>C | CA342273441 | SF3B4 | c.1175C>G (p.Pro392Arg) | |
| 1 | g.149923642G= | CA2478941152 | SF3B4 | c.1175C= (p.Pro392=) | |
| 1 | g.149923642G>T | CA342273443 | SF3B4 | c.1175C>A (p.Pro392Gln) | gnomAD v4 |
| 1 | g.149923646del | CA2647756186 | SF3B4 | c.1175del (p.Pro392HisfsTer?) | gnomAD v4 |
| 1 | g.149923643G>A | CA342273451 | SF3B4 | c.1174C>T (p.Pro392Ser) | |
| 1 | g.149923643G>C | CA342273453 | SF3B4 | c.1174C>G (p.Pro392Ala) | |
| 1 | g.149923643G>T | CA342273456 | SF3B4 | c.1174C>A (p.Pro392Thr) | |
| 1 | g.149923644G>A | CA1071360 | SF3B4 | c.1173C>T (p.Pro391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923644G>C | CA420670498 | SF3B4 | c.1173C>G (p.Pro391=) | |
| 1 | g.149923644G= | CA1148127215 | SF3B4 | c.1173C= (p.Pro391=) | |
| 1 | g.149923644G>T | CA420670499 | SF3B4 | c.1173C>A (p.Pro391=) | gnomAD v4 |
| 1 | g.149923645G>A | CA342273461 | SF3B4 | c.1172C>T (p.Pro391Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923645G>C | CA342273464 | SF3B4 | c.1172C>G (p.Pro391Arg) | |
| 1 | g.149923645G= | CA2478941153 | SF3B4 | c.1172C= (p.Pro391=) | |
| 1 | g.149923645G>T | CA342273466 | SF3B4 | c.1172C>A (p.Pro391His) | |
| 1 | g.149923645_149923647del | CA2647756187 | SF3B4 | c.1170_1172del (p.Pro391del) | gnomAD v4 |
| 1 | g.149923646G>A | CA342273470 | SF3B4 | c.1171C>T (p.Pro391Ser) | |
| 1 | g.149923646G>C | CA342273474 | SF3B4 | c.1171C>G (p.Pro391Ala) | |
| 1 | g.149923646G>T | CA342273471 | SF3B4 | c.1171C>A (p.Pro391Thr) | gnomAD v4 |
| 1 | g.149923647T>A | CA420670502 | SF3B4 | c.1170A>T (p.Arg390=) | |
| 1 | g.149923647T>C | CA420670503 | SF3B4 | c.1170A>G (p.Arg390=) | |
| 1 | g.149923647T>G | CA420670507 | SF3B4 | c.1170A>C (p.Arg390=) | dbSNP |
| 1 | g.149923647T= | CA2478941154 | SF3B4 | c.1170A= (p.Arg390=) | |
| 1 | g.149923648C>A | CA342273478 | SF3B4 | c.1169G>T (p.Arg390Leu) | COSMIC |
| 1 | g.149923648C>G | CA342273480 | SF3B4 | c.1169G>C (p.Arg390Pro) | |
| 1 | g.149923648C>T | CA342273492 | SF3B4 | c.1169G>A (p.Arg390Gln) | gnomAD v4 |
| 1 | g.149923649G>A | CA342273499 | SF3B4 | c.1168C>T (p.Arg390Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.149923649G>C | CA342273502 | SF3B4 | c.1168C>G (p.Arg390Gly) | |
| 1 | g.149923649G>T | CA420670521 | SF3B4 | c.1168C>A (p.Arg390=) | |
| 1 | g.149923650T>A | CA420670526 | SF3B4 | c.1167A>T (p.Pro389=) | |
| 1 | g.149923650T>C | CA420670529 | SF3B4 | c.1167A>G (p.Pro389=) | |
| 1 | g.149923650T>G | CA420670531 | SF3B4 | c.1167A>C (p.Pro389=) | |
| 1 | g.149923651G>A | CA342273512 | SF3B4 | c.1166C>T (p.Pro389Leu) | |
| 1 | g.149923651G>C | CA342273508 | SF3B4 | c.1166C>G (p.Pro389Arg) | |
| 1 | g.149923651G>T | CA342273505 | SF3B4 | c.1166C>A (p.Pro389Gln) | |
| 1 | g.149923652G>A | CA342273514 | SF3B4 | c.1165C>T (p.Pro389Ser) | gnomAD v4 |
| 1 | g.149923652G>C | CA342273515 | SF3B4 | c.1165C>G (p.Pro389Ala) | |
| 1 | g.149923652G>T | CA342273517 | SF3B4 | c.1165C>A (p.Pro389Thr) | |
| 1 | g.149923653A>C | CA420670538 | SF3B4 | c.1164T>G (p.Pro388=) | |
| 1 | g.149923653A>G | CA420670540 | SF3B4 | c.1164T>C (p.Pro388=) | gnomAD v4 |
| 1 | g.149923653A>T | CA420670549 | SF3B4 | c.1164T>A (p.Pro388=) | |
| 1 | g.149923653_149923654delinsAG | CA2478941155 | SF3B4 | c.1163_1164delinsCT (p.Pro388=) | |
| 1 | g.149923654G>A | CA1071361 | SF3B4 | c.1163C>T (p.Pro388Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923654G>C | CA342273539 | SF3B4 | c.1163C>G (p.Pro388Arg) | |
| 1 | g.149923654G= | CA2478941156 | SF3B4 | c.1163C= (p.Pro388=) | |
| 1 | g.149923654G>T | CA342273542 | SF3B4 | c.1163C>A (p.Pro388His) | |
| 1 | g.149923656del | CA1139656300 | SF3B4 | c.1163del (p.Pro388LeufsTer?) | ClinVar dbSNP |
| 1 | g.149923655G>A | CA342273545 | SF3B4 | c.1162C>T (p.Pro388Ser) | |
| 1 | g.149923655G>C | CA342273548 | SF3B4 | c.1162C>G (p.Pro388Ala) | |
| 1 | g.149923655G>T | CA342273547 | SF3B4 | c.1162C>A (p.Pro388Thr) | |
| 1 | g.149923656G>A | CA420670561 | SF3B4 | c.1161C>T (p.Gly387=) | |
| 1 | g.149923656G>C | CA420670558 | SF3B4 | c.1161C>G (p.Gly387=) | |
| 1 | g.149923656G>T | CA420670556 | SF3B4 | c.1161C>A (p.Gly387=) | |
| 1 | g.149923657C>A | CA342273549 | SF3B4 | c.1160G>T (p.Gly387Val) | gnomAD v4 |
| 1 | g.149923657C= | CA2478941157 | SF3B4 | c.1160G= (p.Gly387=) | |
| 1 | g.149923657C>G | CA342273551 | SF3B4 | c.1160G>C (p.Gly387Ala) | |
| 1 | g.149923657C>T | CA342273554 | SF3B4 | c.1160G>A (p.Gly387Asp) | |
| 1 | g.149923658C>A | CA342273556 | SF3B4 | c.1159G>T (p.Gly387Cys) | |
| 1 | g.149923658C>G | CA342273558 | SF3B4 | c.1159G>C (p.Gly387Arg) | |
| 1 | g.149923658C>T | CA342273561 | SF3B4 | c.1159G>A (p.Gly387Ser) | |
| 1 | g.149923658_149923664dup | CA16616968 | SF3B4 | c.1153_1159dup (p.Gly387ValfsTer?) | ClinVar dbSNP |
| 1 | g.149923659A>C | CA420670572 | SF3B4 | c.1158T>G (p.Thr386=) | |
| 1 | g.149923659A>G | CA420670573 | SF3B4 | c.1158T>C (p.Thr386=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923659A>T | CA420670574 | SF3B4 | c.1158T>A (p.Thr386=) | |
| 1 | g.149923660G>A | CA342273564 | SF3B4 | c.1157C>T (p.Thr386Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923660G>C | CA342273576 | SF3B4 | c.1157C>G (p.Thr386Ser) | |
| 1 | g.149923660G= | CA2478941158 | SF3B4 | c.1157C= (p.Thr386=) | |
| 1 | g.149923660G>T | CA342273577 | SF3B4 | c.1157C>A (p.Thr386Asn) | |
| 1 | g.149923661T>A | CA342273578 | SF3B4 | c.1156A>T (p.Thr386Ser) | gnomAD v4 |
| 1 | g.149923661T>C | CA342273589 | SF3B4 | c.1156A>G (p.Thr386Ala) | |
| 1 | g.149923661T>G | CA342273591 | SF3B4 | c.1156A>C (p.Thr386Pro) | |
| 1 | g.149923662G>A | CA420670584 | SF3B4 | c.1155C>T (p.Tyr385=) | gnomAD v4 COSMIC |
| 1 | g.149923662G>C | CA342273595 | SF3B4 | c.1155C>G (p.Tyr385Ter) | |
| 1 | g.149923662G>T | CA342273599 | SF3B4 | c.1155C>A (p.Tyr385Ter) | COSMIC |
| 1 | g.149923663T>A | CA342273602 | SF3B4 | c.1154A>T (p.Tyr385Phe) | |
| 1 | g.149923663T>C | CA342273606 | SF3B4 | c.1154A>G (p.Tyr385Cys) | |
| 1 | g.149923663T>G | CA342273604 | SF3B4 | c.1154A>C (p.Tyr385Ser) | |
| 1 | g.149923664A>C | CA342273610 | SF3B4 | c.1153T>G (p.Tyr385Asp) | |
| 1 | g.149923664A>G | CA342273618 | SF3B4 | c.1153T>C (p.Tyr385His) | |
| 1 | g.149923664A>T | CA342273620 | SF3B4 | c.1153T>A (p.Tyr385Asn) | |
| 1 | g.149923665T>A | CA420670591 | SF3B4 | c.1152A>T (p.Gly384=) | |
| 1 | g.149923665T>C | CA420670592 | SF3B4 | c.1152A>G (p.Gly384=) | gnomAD v4 |
| 1 | g.149923665T>G | CA420670593 | SF3B4 | c.1152A>C (p.Gly384=) | |
| 1 | g.149923666C>A | CA342273623 | SF3B4 | c.1151G>T (p.Gly384Val) | |
| 1 | g.149923666C>G | CA342273626 | SF3B4 | c.1151G>C (p.Gly384Ala) | |
| 1 | g.149923666C>T | CA342273628 | SF3B4 | c.1151G>A (p.Gly384Glu) | |
| 1 | g.149923667C>A | CA342273631 | SF3B4 | c.1150G>T (p.Gly384Ter) | |
| 1 | g.149923667C>G | CA342273634 | SF3B4 | c.1150G>C (p.Gly384Arg) | COSMIC |
| 1 | g.149923667C>T | CA342273635 | SF3B4 | c.1150G>A (p.Gly384Arg) | |
| 1 | g.149923668A= | CA2478941159 | SF3B4 | c.1149T= (p.His383=) | |
| 1 | g.149923668A>C | CA342273636 | SF3B4 | c.1149T>G (p.His383Gln) | |
| 1 | g.149923668A>G | CA1071362 | SF3B4 | c.1149T>C (p.His383=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923668A>T | CA342273638 | SF3B4 | c.1149T>A (p.His383Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923669T>A | CA342273644 | SF3B4 | c.1148A>T (p.His383Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923669T>C | CA342273642 | SF3B4 | c.1148A>G (p.His383Arg) | gnomAD v4 |
| 1 | g.149923669T>G | CA342273641 | SF3B4 | c.1148A>C (p.His383Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923669T= | CA2478941161 | SF3B4 | c.1148A= (p.His383=) | |
| 1 | g.149923669dup | CA204934 | SF3B4 | c.1148dup (p.His383GlnfsTer?) | ClinVar dbSNP |
| 1 | g.149923669_149923670delinsTG | CA2478941160 | SF3B4 | c.1147_1148delinsCA (p.His383=) | |
| 1 | g.149923670G>A | CA342273650 | SF3B4 | c.1147C>T (p.His383Tyr) | |
| 1 | g.149923670G>C | CA1071363 | SF3B4 | c.1147C>G (p.His383Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923670G= | CA2478941162 | SF3B4 | c.1147C= (p.His383=) | |
| 1 | g.149923670G>T | CA342273652 | SF3B4 | c.1147C>A (p.His383Asn) | dbSNP gnomAD v4 |
| 1 | g.149923670_149923676delinsGGGGGGG | CA1144228965 | SF3B4 | c.1141_1147delinsCCCCCCC (p.Pro381=) | |
| 1 | g.149923676dup | CA129874 | SF3B4 | c.1147dup (p.His383ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.149923675_149923676dup | CA2746057862 | SF3B4 | c.1146_1147dup (p.His383ProfsTer?) | |
| 1 | g.149923674_149923676dup | CA2647756201 | SF3B4 | c.1145_1147dup (p.Pro382_His383insPro) | gnomAD v4 |
| 1 | g.149923676del | CA129875 | SF3B4 | c.1147del (p.His383MetfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.149923670_149923671insC | CA420670617 | SF3B4 | c.1146_1147insG (p.His383AlafsTer?) | |
| 1 | g.149923671G>A | CA420670620 | SF3B4 | c.1146C>T (p.Pro382=) | gnomAD v3 gnomAD v4 |
| 1 | g.149923671G>C | CA420670621 | SF3B4 | c.1146C>G (p.Pro382=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923671G= | CA2478941163 | SF3B4 | c.1146C= (p.Pro382=) | |
| 1 | g.149923671G>T | CA420670619 | SF3B4 | c.1146C>A (p.Pro382=) | gnomAD v4 |
| 1 | g.149923672G>A | CA342273655 | SF3B4 | c.1145C>T (p.Pro382Leu) | dbSNP gnomAD v4 |
| 1 | g.149923672G>C | CA1071365 | SF3B4 | c.1145C>G (p.Pro382Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923672G= | CA2478941164 | SF3B4 | c.1145C= (p.Pro382=) | |
| 1 | g.149923672G>T | CA1071364 | SF3B4 | c.1145C>A (p.Pro382His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923673G>A | CA342273671 | SF3B4 | c.1144C>T (p.Pro382Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923673G>C | CA342273675 | SF3B4 | c.1144C>G (p.Pro382Ala) | gnomAD v4 |
| 1 | g.149923673G= | CA2478941165 | SF3B4 | c.1144C= (p.Pro382=) | |
| 1 | g.149923673G>T | CA342273678 | SF3B4 | c.1144C>A (p.Pro382Thr) | gnomAD v4 |
| 1 | g.149923674G>A | CA420670631 | SF3B4 | c.1143C>T (p.Pro381=) | |
| 1 | g.149923674G>C | CA420670633 | SF3B4 | c.1143C>G (p.Pro381=) | gnomAD v4 |
| 1 | g.149923674G>T | CA420670634 | SF3B4 | c.1143C>A (p.Pro381=) | |
| 1 | g.149923675G>A | CA1071366 | SF3B4 | c.1142C>T (p.Pro381Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923675G>C | CA342273684 | SF3B4 | c.1142C>G (p.Pro381Arg) | |
| 1 | g.149923675G= | CA2478941166 | SF3B4 | c.1142C= (p.Pro381=) | |
| 1 | g.149923675G>T | CA342273688 | SF3B4 | c.1142C>A (p.Pro381His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923676G>A | CA29988869 | SF3B4 | c.1141C>T (p.Pro381Ser) | dbSNP gnomAD v4 |
| 1 | g.149923676G>C | CA342273693 | SF3B4 | c.1141C>G (p.Pro381Ala) | dbSNP |
| 1 | g.149923676G= | CA2478941167 | SF3B4 | c.1141C= (p.Pro381=) | |
| 1 | g.149923676G>T | CA342273691 | SF3B4 | c.1141C>A (p.Pro381Thr) | |
| 1 | g.149923677C>A | CA342273697 | SF3B4 | c.1140G>T (p.Met380Ile) | gnomAD v4 |
| 1 | g.149923677C>G | CA342273700 | SF3B4 | c.1140G>C (p.Met380Ile) | |
| 1 | g.149923677C>T | CA342273701 | SF3B4 | c.1140G>A (p.Met380Ile) | gnomAD v4 |
| 1 | g.149923678A>C | CA342273705 | SF3B4 | c.1139T>G (p.Met380Arg) | |
| 1 | g.149923678A>G | CA342273707 | SF3B4 | c.1139T>C (p.Met380Thr) | |
| 1 | g.149923678A>T | CA342273709 | SF3B4 | c.1139T>A (p.Met380Lys) | |
| 1 | g.149923679T>A | CA342273711 | SF3B4 | c.1138A>T (p.Met380Leu) | |
| 1 | g.149923679T>C | CA342273725 | SF3B4 | c.1138A>G (p.Met380Val) | |
| 1 | g.149923679T>G | CA342273735 | SF3B4 | c.1138A>C (p.Met380Leu) | |
| 1 | g.149923679_149923680insGCC | CA645525962 | SF3B4 | c.1137_1138insGGC (p.Leu379_Met380insGly) | gnomAD v4 COSMIC |
| 1 | g.149923680C>A | CA420670656 | SF3B4 | c.1137G>T (p.Leu379=) | gnomAD v4 |
| 1 | g.149923680C>G | CA420670652 | SF3B4 | c.1137G>C (p.Leu379=) | gnomAD v4 |
| 1 | g.149923680C>T | CA420670654 | SF3B4 | c.1137G>A (p.Leu379=) | gnomAD v4 |
| 1 | g.149923681A>C | CA342273740 | SF3B4 | c.1136T>G (p.Leu379Arg) | |
| 1 | g.149923681A>G | CA342273743 | SF3B4 | c.1136T>C (p.Leu379Pro) | gnomAD v4 |
| 1 | g.149923681A>T | CA342273745 | SF3B4 | c.1136T>A (p.Leu379Gln) | gnomAD v4 |
| 1 | g.149923682G>A | CA1071367 | SF3B4 | c.1135C>T (p.Leu379=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923682G>C | CA342273751 | SF3B4 | c.1135C>G (p.Leu379Val) | gnomAD v4 |
| 1 | g.149923682G= | CA2478941168 | SF3B4 | c.1135C= (p.Leu379=) | |
| 1 | g.149923682G>T | CA29988871 | SF3B4 | c.1135C>A (p.Leu379Met) | dbSNP gnomAD v4 |
| 1 | g.149923683T>A | CA420670661 | SF3B4 | c.1134A>T (p.Pro378=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923683T>C | CA420670662 | SF3B4 | c.1134A>G (p.Pro378=) | gnomAD v4 |
| 1 | g.149923683T>G | CA420670663 | SF3B4 | c.1134A>C (p.Pro378=) | |
| 1 | g.149923683T= | CA2478941169 | SF3B4 | c.1134A= (p.Pro378=) | |
| 1 | g.149923684G>A | CA342273758 | SF3B4 | c.1133C>T (p.Pro378Leu) | gnomAD v4 |
| 1 | g.149923684G>C | CA342273761 | SF3B4 | c.1133C>G (p.Pro378Arg) | |
| 1 | g.149923684G>T | CA342273763 | SF3B4 | c.1133C>A (p.Pro378Gln) | |
| 1 | g.149923689_149923691del | CA658763404 | SF3B4 | c.1131_1133del (p.Pro378del) | |
| 1 | g.149923685G>A | CA342273766 | SF3B4 | c.1132C>T (p.Pro378Ser) | |
| 1 | g.149923685G>C | CA342273768 | SF3B4 | c.1132C>G (p.Pro378Ala) | |
| 1 | g.149923685G>T | CA342273772 | SF3B4 | c.1132C>A (p.Pro378Thr) | |
| 1 | g.149923686A>C | CA420670674 | SF3B4 | c.1131T>G (p.Pro377=) | |
| 1 | g.149923686A>G | CA420670675 | SF3B4 | c.1131T>C (p.Pro377=) | |
| 1 | g.149923686A>T | CA420670680 | SF3B4 | c.1131T>A (p.Pro377=) | |
| 1 | g.149923687G>A | CA342273776 | SF3B4 | c.1130C>T (p.Pro377Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923687G>C | CA342273778 | SF3B4 | c.1130C>G (p.Pro377Arg) | |
| 1 | g.149923687G= | CA2478941170 | SF3B4 | c.1130C= (p.Pro377=) | |
| 1 | g.149923687G>T | CA342273796 | SF3B4 | c.1130C>A (p.Pro377His) | |
| 1 | g.149923688G>A | CA342273800 | SF3B4 | c.1129C>T (p.Pro377Ser) | COSMIC |
| 1 | g.149923688G>C | CA342273802 | SF3B4 | c.1129C>G (p.Pro377Ala) | |
| 1 | g.149923688G>T | CA342273807 | SF3B4 | c.1129C>A (p.Pro377Thr) | COSMIC |
| 1 | g.149923689A>C | CA420670702 | SF3B4 | c.1128T>G (p.Pro376=) | |
| 1 | g.149923689A>G | CA420670703 | SF3B4 | c.1128T>C (p.Pro376=) | |
| 1 | g.149923689A>T | CA420670700 | SF3B4 | c.1128T>A (p.Pro376=) | |
| 1 | g.149923690G>A | CA29988882 | SF3B4 | c.1127C>T (p.Pro376Leu) | dbSNP |
| 1 | g.149923690G>C | CA342273822 | SF3B4 | c.1127C>G (p.Pro376Arg) | gnomAD v4 |
| 1 | g.149923690G= | CA2478941171 | SF3B4 | c.1127C= (p.Pro376=) | |
| 1 | g.149923690G>T | CA342273815 | SF3B4 | c.1127C>A (p.Pro376His) | |
| 1 | g.149923691G>A | CA342273833 | SF3B4 | c.1126C>T (p.Pro376Ser) | gnomAD v4 |
| 1 | g.149923691G>C | CA342273842 | SF3B4 | c.1126C>G (p.Pro376Ala) | gnomAD v4 |
| 1 | g.149923691G>T | CA342273838 | SF3B4 | c.1126C>A (p.Pro376Thr) | |
| 1 | g.149923692T>A | CA420670715 | SF3B4 | c.1125A>T (p.Gly375=) | |
| 1 | g.149923692T>C | CA420670717 | SF3B4 | c.1125A>G (p.Gly375=) | |
| 1 | g.149923692T>G | CA420670718 | SF3B4 | c.1125A>C (p.Gly375=) | dbSNP |
| 1 | g.149923692T= | CA2478941172 | SF3B4 | c.1125A= (p.Gly375=) | |
| 1 | g.149923693C>A | CA342273845 | SF3B4 | c.1124G>T (p.Gly375Val) | |
| 1 | g.149923693C>G | CA342273847 | SF3B4 | c.1124G>C (p.Gly375Ala) | |
| 1 | g.149923693C>T | CA342273850 | SF3B4 | c.1124G>A (p.Gly375Glu) | |
| 1 | g.149923694C>A | CA342273855 | SF3B4 | c.1123G>T (p.Gly375Ter) | |
| 1 | g.149923694C>G | CA342273857 | SF3B4 | c.1123G>C (p.Gly375Arg) | |
| 1 | g.149923694C>T | CA342273859 | SF3B4 | c.1123G>A (p.Gly375Arg) | |
| 1 | g.149923695A>C | CA420670743 | SF3B4 | c.1122T>G (p.Arg374=) | |
| 1 | g.149923695A>G | CA420670746 | SF3B4 | c.1122T>C (p.Arg374=) | |
| 1 | g.149923695A>T | CA420670748 | SF3B4 | c.1122T>A (p.Arg374=) | gnomAD v4 |
| 1 | g.149923696C>A | CA342273862 | SF3B4 | c.1121G>T (p.Arg374Leu) | |
| 1 | g.149923696C= | CA2478941173 | SF3B4 | c.1121G= (p.Arg374=) | |
| 1 | g.149923696C>G | CA342273865 | SF3B4 | c.1121G>C (p.Arg374Pro) | |
| 1 | g.149923696C>T | CA342273869 | SF3B4 | c.1121G>A (p.Arg374His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149923697G>A | CA342273874 | SF3B4 | c.1120C>T (p.Arg374Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.149923697G>C | CA342273876 | SF3B4 | c.1120C>G (p.Arg374Gly) | dbSNP |
| 1 | g.149923697G= | CA2478941174 | SF3B4 | c.1120C= (p.Arg374=) | |
| 1 | g.149923697G>T | CA342273879 | SF3B4 | c.1120C>A (p.Arg374Ser) | |
| 1 | g.149923698C>A | CA342273883 | SF3B4 | c.1119G>T (p.Met373Ile) | |
| 1 | g.149923698C>G | CA342273888 | SF3B4 | c.1119G>C (p.Met373Ile) | |
| 1 | g.149923698C>T | CA342273885 | SF3B4 | c.1119G>A (p.Met373Ile) | |
| 1 | g.149923699A>C | CA342273890 | SF3B4 | c.1118T>G (p.Met373Arg) | |
| 1 | g.149923699A>G | CA342273892 | SF3B4 | c.1118T>C (p.Met373Thr) | |
| 1 | g.149923699A>T | CA342273895 | SF3B4 | c.1118T>A (p.Met373Lys) | |
| 1 | g.149923700T>A | CA342273899 | SF3B4 | c.1117A>T (p.Met373Leu) | |
| 1 | g.149923700T>C | CA1071368 | SF3B4 | c.1117A>G (p.Met373Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923700T>G | CA342273903 | SF3B4 | c.1117A>C (p.Met373Leu) | |
| 1 | g.149923700T= | CA1142214865 | SF3B4 | c.1117A= (p.Met373=) | |
| 1 | g.149923701A>C | CA420670777 | SF3B4 | c.1116T>G (p.Gly372=) | |
| 1 | g.149923701A>G | CA420670779 | SF3B4 | c.1116T>C (p.Gly372=) | |
| 1 | g.149923701A>T | CA420670785 | SF3B4 | c.1116T>A (p.Gly372=) | |
| 1 | g.149923702C>A | CA342273905 | SF3B4 | c.1115G>T (p.Gly372Val) | |
| 1 | g.149923702C>G | CA342273907 | SF3B4 | c.1115G>C (p.Gly372Ala) | gnomAD v4 |
| 1 | g.149923702C>T | CA342273909 | SF3B4 | c.1115G>A (p.Gly372Asp) | |
| 1 | g.149923703C>A | CA342273913 | SF3B4 | c.1114G>T (p.Gly372Cys) | gnomAD v4 |
| 1 | g.149923703C>G | CA342273914 | SF3B4 | c.1114G>C (p.Gly372Arg) | |
| 1 | g.149923703C>T | CA342273911 | SF3B4 | c.1114G>A (p.Gly372Ser) | gnomAD v4 |
| 1 | g.149923704A>C | CA342273916 | SF3B4 | c.1113T>G (p.His371Gln) | |
| 1 | g.149923704A>G | CA420670796 | SF3B4 | c.1113T>C (p.His371=) | gnomAD v4 |
| 1 | g.149923704A>T | CA342273918 | SF3B4 | c.1113T>A (p.His371Gln) | |
| 1 | g.149923705T>A | CA342273923 | SF3B4 | c.1112A>T (p.His371Leu) | gnomAD v4 |
| 1 | g.149923705T>C | CA342273924 | SF3B4 | c.1112A>G (p.His371Arg) | |
| 1 | g.149923705T>G | CA342273925 | SF3B4 | c.1112A>C (p.His371Pro) | |
| 1 | g.149923706G>A | CA342273931 | SF3B4 | c.1111C>T (p.His371Tyr) | |
| 1 | g.149923706G>C | CA342273927 | SF3B4 | c.1111C>G (p.His371Asp) | |
| 1 | g.149923706G>T | CA342273929 | SF3B4 | c.1111C>A (p.His371Asn) | |
| 1 | g.149923707C>A | CA1071369 | SF3B4 | c.1110G>T (p.Pro370=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923707C= | CA2478941175 | SF3B4 | c.1110G= (p.Pro370=) | |
| 1 | g.149923707C>G | CA420670816 | SF3B4 | c.1110G>C (p.Pro370=) | |
| 1 | g.149923707C>T | CA1071370 | SF3B4 | c.1110G>A (p.Pro370=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923708G>A | CA29988939 | SF3B4 | c.1109C>T (p.Pro370Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923708G>C | CA342273943 | SF3B4 | c.1109C>G (p.Pro370Arg) | |
| 1 | g.149923708G= | CA2478941176 | SF3B4 | c.1109C= (p.Pro370=) | |
| 1 | g.149923708G>T | CA342273945 | SF3B4 | c.1109C>A (p.Pro370Gln) | |
| 1 | g.149923709G>A | CA342273948 | SF3B4 | c.1108C>T (p.Pro370Ser) | |
| 1 | g.149923709G>C | CA342273952 | SF3B4 | c.1108C>G (p.Pro370Ala) | COSMIC |
| 1 | g.149923709G>T | CA342273950 | SF3B4 | c.1108C>A (p.Pro370Thr) | |
| 1 | g.149923710A>C | CA420670819 | SF3B4 | c.1107T>G (p.Pro369=) | |
| 1 | g.149923710A>G | CA420670820 | SF3B4 | c.1107T>C (p.Pro369=) | |
| 1 | g.149923710A>T | CA420670822 | SF3B4 | c.1107T>A (p.Pro369=) | |
| 1 | g.149923711G>A | CA342273956 | SF3B4 | c.1106C>T (p.Pro369Leu) | gnomAD v4 |
| 1 | g.149923711G>C | CA342273959 | SF3B4 | c.1106C>G (p.Pro369Arg) | |
| 1 | g.149923711G>T | CA342273962 | SF3B4 | c.1106C>A (p.Pro369His) | |
| 1 | g.149923712G>A | CA342273967 | SF3B4 | c.1105C>T (p.Pro369Ser) | |
| 1 | g.149923712G>C | CA342273969 | SF3B4 | c.1105C>G (p.Pro369Ala) | |
| 1 | g.149923712G>T | CA342273970 | SF3B4 | c.1105C>A (p.Pro369Thr) | gnomAD v4 |
| 1 | g.149923713C>A | CA342273973 | SF3B4 | c.1104G>T (p.Met368Ile) | |
| 1 | g.149923713C= | CA2478941177 | SF3B4 | c.1104G= (p.Met368=) | |
| 1 | g.149923713C>G | CA342273975 | SF3B4 | c.1104G>C (p.Met368Ile) | |
| 1 | g.149923713C>T | CA342273977 | SF3B4 | c.1104G>A (p.Met368Ile) | dbSNP |
| 1 | g.149923714A>C | CA342273983 | SF3B4 | c.1103T>G (p.Met368Arg) | |
| 1 | g.149923714A>G | CA342273986 | SF3B4 | c.1103T>C (p.Met368Thr) | |
| 1 | g.149923714A>T | CA342273990 | SF3B4 | c.1103T>A (p.Met368Lys) | |
| 1 | g.149923715T>A | CA342274000 | SF3B4 | c.1102A>T (p.Met368Leu) | dbSNP gnomAD v4 |
| 1 | g.149923715T>C | CA1071371 | SF3B4 | c.1102A>G (p.Met368Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.149923715T>G | CA342273998 | SF3B4 | c.1102A>C (p.Met368Leu) | |
| 1 | g.149923715T= | CA2478941178 | SF3B4 | c.1102A= (p.Met368=) | |
| 1 | g.149923716A>C | CA420670851 | SF3B4 | c.1101T>G (p.Pro367=) | |
| 1 | g.149923716A>G | CA420670854 | SF3B4 | c.1101T>C (p.Pro367=) | gnomAD v4 |
| 1 | g.149923716A>T | CA420670857 | SF3B4 | c.1101T>A (p.Pro367=) | |
| 1 | g.149923717G>A | CA342274012 | SF3B4 | c.1100C>T (p.Pro367Leu) | |
| 1 | g.149923717G>C | CA342274005 | SF3B4 | c.1100C>G (p.Pro367Arg) | |
| 1 | g.149923717G>T | CA342274009 | SF3B4 | c.1100C>A (p.Pro367His) | |
| 1 | g.149923718G>A | CA342274014 | SF3B4 | c.1099C>T (p.Pro367Ser) | |
| 1 | g.149923718G>C | CA342274015 | SF3B4 | c.1099C>G (p.Pro367Ala) | |
| 1 | g.149923718G>T | CA342274020 | SF3B4 | c.1099C>A (p.Pro367Thr) | |
| 1 | g.149923719A>C | CA420670865 | SF3B4 | c.1098T>G (p.Gly366=) | |
| 1 | g.149923719A>G | CA420670866 | SF3B4 | c.1098T>C (p.Gly366=) | |
| 1 | g.149923719A>T | CA420670867 | SF3B4 | c.1098T>A (p.Gly366=) | |
| 1 | g.149923720C>A | CA342274028 | SF3B4 | c.1097G>T (p.Gly366Val) | |
| 1 | g.149923720C>G | CA342274026 | SF3B4 | c.1097G>C (p.Gly366Ala) | |
| 1 | g.149923720C>T | CA342274024 | SF3B4 | c.1097G>A (p.Gly366Asp) | |
| 1 | g.149923721C>A | CA342274030 | SF3B4 | c.1096G>T (p.Gly366Cys) | gnomAD v4 COSMIC |
| 1 | g.149923721C= | CA2478941179 | SF3B4 | c.1096G= (p.Gly366=) | |
| 1 | g.149923721C>G | CA342274033 | SF3B4 | c.1096G>C (p.Gly366Arg) | |
| 1 | g.149923721C>T | CA342274034 | SF3B4 | c.1096G>A (p.Gly366Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923722T>A | CA420670876 | SF3B4 | c.1095A>T (p.Pro365=) | |
| 1 | g.149923722T>C | CA420670877 | SF3B4 | c.1095A>G (p.Pro365=) | |
| 1 | g.149923722T>G | CA420670878 | SF3B4 | c.1095A>C (p.Pro365=) | |
| 1 | g.149923723G>A | CA342274035 | SF3B4 | c.1094C>T (p.Pro365Leu) | |
| 1 | g.149923723G>C | CA342274036 | SF3B4 | c.1094C>G (p.Pro365Arg) | |
| 1 | g.149923723G>T | CA342274039 | SF3B4 | c.1094C>A (p.Pro365Gln) | gnomAD v4 |
| 1 | g.149923724G>A | CA342274041 | SF3B4 | c.1093C>T (p.Pro365Ser) | |
| 1 | g.149923724G>C | CA342274047 | SF3B4 | c.1093C>G (p.Pro365Ala) | |
| 1 | g.149923724G>T | CA342274043 | SF3B4 | c.1093C>A (p.Pro365Thr) | |
| 1 | g.149923725G>A | CA420670891 | SF3B4 | c.1092C>T (p.His364=) | |
| 1 | g.149923725G>C | CA342274049 | SF3B4 | c.1092C>G (p.His364Gln) | |
| 1 | g.149923725G>T | CA342274050 | SF3B4 | c.1092C>A (p.His364Gln) | |
| 1 | g.149923726T>A | CA342274052 | SF3B4 | c.1091A>T (p.His364Leu) | |
| 1 | g.149923726T>C | CA342274053 | SF3B4 | c.1091A>G (p.His364Arg) | |
| 1 | g.149923726T>G | CA342274057 | SF3B4 | c.1091A>C (p.His364Pro) | |
| 1 | g.149923727G>A | CA342274061 | SF3B4 | c.1090C>T (p.His364Tyr) | |
| 1 | g.149923727G>C | CA342274063 | SF3B4 | c.1090C>G (p.His364Asp) | |
| 1 | g.149923727G>T | CA342274066 | SF3B4 | c.1090C>A (p.His364Asn) | |
| 1 | g.149923728A>C | CA420670905 | SF3B4 | c.1089T>G (p.Gly363=) | |
| 1 | g.149923728A>G | CA420670903 | SF3B4 | c.1089T>C (p.Gly363=) | gnomAD v4 |
| 1 | g.149923728A>T | CA420670902 | SF3B4 | c.1089T>A (p.Gly363=) | |
| 1 | g.149923731_149923841del | CA2647756271 | SF3B4 | c.1087+3_1089del | gnomAD v4 |
| 1 | g.149923729C>A | CA342274069 | SF3B4 | c.1088G>T (p.Gly363Val) | gnomAD v4 |
| 1 | g.149923729C>G | CA342274072 | SF3B4 | c.1088G>C (p.Gly363Ala) | |
| 1 | g.149923729C>T | CA342274074 | SF3B4 | c.1088G>A (p.Gly363Asp) | |
| 1 | g.149923730C>A | CA342274080 | SF3B4 | c.1088-1G>T (n.1088-1G>T) | |
| 1 | g.149923730C>G | CA342274079 | SF3B4 | c.1088-1G>C (n.1088-1G>C) | |
| 1 | g.149923730C>T | CA342274077 | SF3B4 | c.1088-1G>A (n.1088-1G>A) | |
| 1 | g.149923731T>A | CA342274086 | SF3B4 | c.1088-2A>T (n.1088-2A>T) | |
| 1 | g.149923731T>C | CA342274083 | SF3B4 | c.1088-2A>G (n.1088-2A>G) | gnomAD v4 |
| 1 | g.149923731T>G | CA342274084 | SF3B4 | c.1088-2A>C (n.1088-2A>C) | |
| 1 | g.149923732G>A | CA2647756279 | SF3B4 | c.1088-3C>T (n.1088-3C>T) | gnomAD v4 |
| 1 | g.149923732G>C | CA209826 | SF3B4 | c.1088-3C>G (n.1088-3C>G) | ClinVar dbSNP |
| 1 | g.149923732G= | CA2478941180 | SF3B4 | c.1088-3C= (n.1088-3C=) | |
| 1 | g.149923733C>A | CA2647756280 | SF3B4 | c.1088-4G>T (n.1088-4G>T) | gnomAD v4 |
| 1 | g.149923733C>T | CA2573893326 | SF3B4 | c.1088-4G>A (n.1088-4G>A) | |
| 1 | g.149923734A>G | CA2647756283 | SF3B4 | c.1088-5T>C (n.1088-5T>C) | gnomAD v4 |
| 1 | g.149923735A= | CA2478941181 | SF3B4 | c.1088-6T= (n.1088-6T=) | |
| 1 | g.149923735A>G | CA2478941182 | SF3B4 | c.1088-6T>C (n.1088-6T>C) | dbSNP gnomAD v4 |
| 1 | g.149923736A= | CA2478941183 | SF3B4 | c.1088-7T= (n.1088-7T=) | |
| 1 | g.149923736A>G | CA889159105 | SF3B4 | c.1088-7T>C (n.1088-7T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923737G>A | CA1071372 | SF3B4 | c.1088-8C>T (n.1088-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149923737G= | CA2478941184 | SF3B4 | c.1088-8C= (n.1088-8C=) | |
| 1 | g.149923738A= | CA1148171683 | SF3B4 | c.1088-9T= (n.1088-9T=) | |
| 1 | g.149923738A>G | CA1071373 | SF3B4 | c.1088-9T>C (n.1088-9T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149923738A>T | CA1007570438 | SF3B4 | c.1088-9T>A (n.1088-9T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149923740T>G | CA2604583710 | SF3B4 | c.1088-11A>C (n.1088-11A>C) | gnomAD v3 gnomAD v4 |
| 1 | g.149923740_149923745delinsTAAAAG | CA2478941185 | SF3B4 | c.1088-16_1088-11delinsCTTTTA (n.1088-16_1088-11delinsCTTTTA) |