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 |
|---|---|---|---|---|---|
| 6 | g.7579754T>A | CA362684347 | DSP | c.3564T>A (p.Tyr1188Ter) | ClinVar dbSNP |
| 6 | g.7579754T>C | CA448714290 | DSP | c.3564T>C (p.Tyr1188=) | ClinVar dbSNP |
| 6 | g.7579754T>G | CA362684348 | DSP | c.3564T>G (p.Tyr1188Ter) | |
| 6 | g.7579755G>A | CA133968511 | DSP | c.3565G>A (p.Glu1189Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7579755G>C | CA362684349 | DSP | c.3565G>C (p.Glu1189Gln) | |
| 6 | g.7579755G= | CA1608614746 | DSP | c.3565G= (p.Glu1189=) | |
| 6 | g.7579755G>T | CA362684350 | DSP | c.3565G>T (p.Glu1189Ter) | |
| 6 | g.7579756A>C | CA362684353 | DSP | c.3566A>C (p.Glu1189Ala) | |
| 6 | g.7579756A>G | CA362684352 | DSP | c.3566A>G (p.Glu1189Gly) | |
| 6 | g.7579756A>T | CA362684351 | DSP | c.3566A>T (p.Glu1189Val) | |
| 6 | g.7579757A= | CA1608614753 | DSP | c.3567A= (p.Glu1189=) | |
| 6 | g.7579757A>C | CA362684354 | DSP | c.3567A>C (p.Glu1189Asp) | |
| 6 | g.7579757A>G | CA038417 | DSP | c.3567A>G (p.Glu1189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579757A>T | CA362684355 | DSP | c.3567A>T (p.Glu1189Asp) | |
| 6 | g.7579758A>C | CA362684356 | DSP | c.3568A>C (p.Asn1190His) | |
| 6 | g.7579758A>G | CA362684357 | DSP | c.3568A>G (p.Asn1190Asp) | |
| 6 | g.7579758A>T | CA362684358 | DSP | c.3568A>T (p.Asn1190Tyr) | |
| 6 | g.7579759A>C | CA362684361 | DSP | c.3569A>C (p.Asn1190Thr) | |
| 6 | g.7579759A>G | CA362684359 | DSP | c.3569A>G (p.Asn1190Ser) | |
| 6 | g.7579759A>T | CA362684360 | DSP | c.3569A>T (p.Asn1190Ile) | |
| 6 | g.7579760T>A | CA362684362 | DSP | c.3570T>A (p.Asn1190Lys) | |
| 6 | g.7579760T>C | CA448714291 | DSP | c.3570T>C (p.Asn1190=) | |
| 6 | g.7579760T>G | CA362684363 | DSP | c.3570T>G (p.Asn1190Lys) | |
| 6 | g.7579761G>A | CA362684364 | DSP | c.3571G>A (p.Glu1191Lys) | |
| 6 | g.7579761G>C | CA362684365 | DSP | c.3571G>C (p.Glu1191Gln) | |
| 6 | g.7579761G= | CA1608614759 | DSP | c.3571G= (p.Glu1191=) | |
| 6 | g.7579761G>T | CA362684366 | DSP | c.3571G>T (p.Glu1191Ter) | ClinVar dbSNP |
| 6 | g.7579762A>C | CA362684369 | DSP | c.3572A>C (p.Glu1191Ala) | |
| 6 | g.7579762A>G | CA362684367 | DSP | c.3572A>G (p.Glu1191Gly) | |
| 6 | g.7579762A>T | CA362684368 | DSP | c.3572A>T (p.Glu1191Val) | |
| 6 | g.7579763G>A | CA448714292 | DSP | c.3573G>A (p.Glu1191=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579763G>C | CA038437 | DSP | c.3573G>C (p.Glu1191Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579763G= | CA1608614767 | DSP | c.3573G= (p.Glu1191=) | |
| 6 | g.7579763G>T | CA362684370 | DSP | c.3573G>T (p.Glu1191Asp) | ClinVar dbSNP |
| 6 | g.7579764C>A | CA362684371 | DSP | c.3574C>A (p.Leu1192Met) | |
| 6 | g.7579764C= | CA1608614777 | DSP | c.3574C= (p.Leu1192=) | |
| 6 | g.7579764C>G | CA362684372 | DSP | c.3574C>G (p.Leu1192Val) | ClinVar dbSNP |
| 6 | g.7579764C>T | CA448714293 | DSP | c.3574C>T (p.Leu1192=) | gnomAD v4 |
| 6 | g.7579765T>A | CA362684373 | DSP | c.3575T>A (p.Leu1192Gln) | |
| 6 | g.7579765T>C | CA362684374 | DSP | c.3575T>C (p.Leu1192Pro) | |
| 6 | g.7579765T>G | CA362684375 | DSP | c.3575T>G (p.Leu1192Arg) | |
| 6 | g.7579766G>A | CA448714294 | DSP | c.3576G>A (p.Leu1192=) | |
| 6 | g.7579766G>C | CA448714295 | DSP | c.3576G>C (p.Leu1192=) | |
| 6 | g.7579766G>T | CA448714296 | DSP | c.3576G>T (p.Leu1192=) | |
| 6 | g.7579767G>A | CA362684376 | DSP | c.3577G>A (p.Ala1193Thr) | |
| 6 | g.7579767G>C | CA362684377 | DSP | c.3577G>C (p.Ala1193Pro) | |
| 6 | g.7579767G>T | CA362684378 | DSP | c.3577G>T (p.Ala1193Ser) | |
| 6 | g.7579768C>A | CA362684379 | DSP | c.3578C>A (p.Ala1193Glu) | ClinVar gnomAD v4 |
| 6 | g.7579768C= | CA1608614785 | DSP | c.3578C= (p.Ala1193=) | |
| 6 | g.7579768C>G | CA362684380 | DSP | c.3578C>G (p.Ala1193Gly) | |
| 6 | g.7579768C>T | CA362684381 | DSP | c.3578C>T (p.Ala1193Val) | dbSNP |
| 6 | g.7579769A>C | CA448714299 | DSP | c.3579A>C (p.Ala1193=) | gnomAD v4 |
| 6 | g.7579769A>G | CA448714298 | DSP | c.3579A>G (p.Ala1193=) | |
| 6 | g.7579769A>T | CA448714297 | DSP | c.3579A>T (p.Ala1193=) | |
| 6 | g.7579770A>C | CA362684384 | DSP | c.3580A>C (p.Lys1194Gln) | |
| 6 | g.7579770A>G | CA362684382 | DSP | c.3580A>G (p.Lys1194Glu) | gnomAD v4 |
| 6 | g.7579770A>T | CA362684383 | DSP | c.3580A>T (p.Lys1194Ter) | |
| 6 | g.7579771A>C | CA362684385 | DSP | c.3581A>C (p.Lys1194Thr) | gnomAD v4 |
| 6 | g.7579771A>G | CA362684386 | DSP | c.3581A>G (p.Lys1194Arg) | |
| 6 | g.7579771A>T | CA362684387 | DSP | c.3581A>T (p.Lys1194Met) | |
| 6 | g.7579772G>A | CA448714300 | DSP | c.3582G>A (p.Lys1194=) | ClinVar |
| 6 | g.7579772G>C | CA362684388 | DSP | c.3582G>C (p.Lys1194Asn) | |
| 6 | g.7579772G>T | CA362684389 | DSP | c.3582G>T (p.Lys1194Asn) | |
| 6 | g.7579773G>A | CA362684390 | DSP | c.3583G>A (p.Val1195Ile) c.3582+1G>A (n.3582+1G>A) | |
| 6 | g.7579773G>C | CA362684391 | DSP | c.3583G>C (p.Val1195Leu) c.3582+1G>C (n.3582+1G>C) | |
| 6 | g.7579773G>T | CA362684392 | DSP | c.3583G>T (p.Val1195Leu) c.3582+1G>T (n.3582+1G>T) | |
| 6 | g.7579774T>A | CA362684393 | DSP | c.3584T>A (p.Val1195Glu) c.3582+2T>A (n.3582+2T>A) | |
| 6 | g.7579774T>C | CA362684394 | DSP | c.3584T>C (p.Val1195Ala) c.3582+2T>C (n.3582+2T>C) | COSMIC |
| 6 | g.7579774T>G | CA362684395 | DSP | c.3584T>G (p.Val1195Gly) c.3582+2T>G (n.3582+2T>G) | |
| 6 | g.7579775A>C | CA448714301 | DSP | c.3585A>C (p.Val1195=) c.3582+3A>C (n.3582+3A>C) | |
| 6 | g.7579775A>G | CA448714302 | DSP | c.3585A>G (p.Val1195=) c.3582+3A>G (n.3582+3A>G) | |
| 6 | g.7579775A>T | CA448714303 | DSP | c.3585A>T (p.Val1195=) c.3582+3A>T (n.3582+3A>T) | |
| 6 | g.7579776A>C | CA448714304 | DSP | c.3586A>C (p.Arg1196=) c.3582+4A>C (n.3582+4A>C) | |
| 6 | g.7579776A>G | CA362684396 | DSP | c.3586A>G (p.Arg1196Gly) c.3582+4A>G (n.3582+4A>G) | |
| 6 | g.7579776A>T | CA362684397 | DSP | c.3586A>T (p.Arg1196Ter) c.3582+4A>T (n.3582+4A>T) | |
| 6 | g.7579777G>A | CA362684400 | DSP | c.3587G>A (p.Arg1196Lys) c.3582+5G>A (n.3582+5G>A) | |
| 6 | g.7579777G>C | CA362684399 | DSP | c.3587G>C (p.Arg1196Thr) c.3582+5G>C (n.3582+5G>C) | |
| 6 | g.7579777G>T | CA362684398 | DSP | c.3587G>T (p.Arg1196Ile) c.3582+5G>T (n.3582+5G>T) | |
| 6 | g.7579778A>C | CA362684401 | DSP | c.3588A>C (p.Arg1196Ser) c.3582+6A>C (n.3582+6A>C) | |
| 6 | g.7579778A>G | CA448714305 | DSP | c.3588A>G (p.Arg1196=) c.3582+6A>G (n.3582+6A>G) | gnomAD v4 |
| 6 | g.7579778A>T | CA362684402 | DSP | c.3588A>T (p.Arg1196Ser) c.3582+6A>T (n.3582+6A>T) | |
| 6 | g.7579779A>C | CA362684403 | DSP | c.3589A>C (p.Asn1197His) c.3582+7A>C (n.3582+7A>C) | |
| 6 | g.7579779A>G | CA362684404 | DSP | c.3589A>G (p.Asn1197Asp) c.3582+7A>G (n.3582+7A>G) | |
| 6 | g.7579779A>T | CA362684405 | DSP | c.3589A>T (p.Asn1197Tyr) c.3582+7A>T (n.3582+7A>T) | |
| 6 | g.7579780A>C | CA362684406 | DSP | c.3590A>C (p.Asn1197Thr) c.3582+8A>C (n.3582+8A>C) | COSMIC |
| 6 | g.7579780A>G | CA362684407 | DSP | c.3590A>G (p.Asn1197Ser) c.3582+8A>G (n.3582+8A>G) | COSMIC |
| 6 | g.7579780A>T | CA362684408 | DSP | c.3590A>T (p.Asn1197Ile) c.3582+8A>T (n.3582+8A>T) | |
| 6 | g.7579781C>A | CA362684409 | DSP | c.3591C>A (p.Asn1197Lys) c.3582+9C>A (n.3582+9C>A) | dbSNP gnomAD v2 |
| 6 | g.7579781C= | CA1608614790 | DSP | c.3591C= (p.Asn1197=) c.3582+9C= (n.3582+9C=) | |
| 6 | g.7579781C>G | CA362684410 | DSP | c.3591C>G (p.Asn1197Lys) c.3582+9C>G (n.3582+9C>G) | |
| 6 | g.7579781C>T | CA448714306 | DSP | c.3591C>T (p.Asn1197=) c.3582+9C>T (n.3582+9C>T) | ClinVar dbSNP gnomAD v2 |
| 6 | g.7579782C>A | CA362684411 | DSP | c.3592C>A (p.His1198Asn) c.3582+10C>A (n.3582+10C>A) | |
| 6 | g.7579782C= | CA1608614797 | DSP | c.3592C= (p.His1198=) c.3582+10C= (n.3582+10C=) | |
| 6 | g.7579782C>G | CA362684412 | DSP | c.3592C>G (p.His1198Asp) c.3582+10C>G (n.3582+10C>G) | |
| 6 | g.7579782C>T | CA038457 | DSP | c.3592C>T (p.His1198Tyr) c.3582+10C>T (n.3582+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579783A= | CA1608614798 | DSP | c.3593A= (p.His1198=) c.3582+11A= (n.3582+11A=) | |
| 6 | g.7579783A>C | CA362684414 | DSP | c.3593A>C (p.His1198Pro) c.3582+11A>C (n.3582+11A>C) | |
| 6 | g.7579783A>G | CA362684415 | DSP | c.3593A>G (p.His1198Arg) c.3582+11A>G (n.3582+11A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579783A>T | CA362684413 | DSP | c.3593A>T (p.His1198Leu) c.3582+11A>T (n.3582+11A>T) | |
| 6 | g.7579784C>A | CA362684416 | DSP | c.3594C>A (p.His1198Gln) c.3582+12C>A (n.3582+12C>A) | |
| 6 | g.7579784C>G | CA362684417 | DSP | c.3594C>G (p.His1198Gln) c.3582+12C>G (n.3582+12C>G) | |
| 6 | g.7579784C>T | CA448714308 | DSP | c.3594C>T (p.His1198=) c.3582+12C>T (n.3582+12C>T) | |
| 6 | g.7579785T>A | CA362684418 | DSP | c.3595T>A (p.Tyr1199Asn) c.3582+13T>A (n.3582+13T>A) | |
| 6 | g.7579785T>C | CA362684419 | DSP | c.3595T>C (p.Tyr1199His) c.3582+13T>C (n.3582+13T>C) | |
| 6 | g.7579785T>G | CA362684420 | DSP | c.3595T>G (p.Tyr1199Asp) c.3582+13T>G (n.3582+13T>G) | |
| 6 | g.7579786A= | CA1608614801 | DSP | c.3596A= (p.Tyr1199=) c.3582+14A= (n.3582+14A=) | |
| 6 | g.7579786A>C | CA362684421 | DSP | c.3596A>C (p.Tyr1199Ser) c.3582+14A>C (n.3582+14A>C) | |
| 6 | g.7579786A>G | CA362684422 | DSP | c.3596A>G (p.Tyr1199Cys) c.3582+14A>G (n.3582+14A>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579786A>T | CA362684423 | DSP | c.3596A>T (p.Tyr1199Phe) c.3582+14A>T (n.3582+14A>T) | |
| 6 | g.7579787T>A | CA362684424 | DSP | c.3597T>A (p.Tyr1199Ter) c.3582+15T>A (n.3582+15T>A) | |
| 6 | g.7579787T>C | CA448714312 | DSP | c.3597T>C (p.Tyr1199=) c.3582+15T>C (n.3582+15T>C) | |
| 6 | g.7579787T>G | CA362684425 | DSP | c.3597T>G (p.Tyr1199Ter) c.3582+15T>G (n.3582+15T>G) | |
| 6 | g.7579788A>C | CA362684426 | DSP | c.3598A>C (p.Asn1200His) c.3582+16A>C (n.3582+16A>C) | |
| 6 | g.7579788A>G | CA362684427 | DSP | c.3598A>G (p.Asn1200Asp) c.3582+16A>G (n.3582+16A>G) | |
| 6 | g.7579788A>T | CA362684428 | DSP | c.3598A>T (p.Asn1200Tyr) c.3582+16A>T (n.3582+16A>T) | |
| 6 | g.7579789A= | CA1608614805 | DSP | c.3599A= (p.Asn1200=) c.3582+17A= (n.3582+17A=) | |
| 6 | g.7579789A>C | CA362684429 | DSP | c.3599A>C (p.Asn1200Thr) c.3582+17A>C (n.3582+17A>C) | |
| 6 | g.7579789A>G | CA362684430 | DSP | c.3599A>G (p.Asn1200Ser) c.3582+17A>G (n.3582+17A>G) | dbSNP |
| 6 | g.7579789A>T | CA362684431 | DSP | c.3599A>T (p.Asn1200Ile) c.3582+17A>T (n.3582+17A>T) | |
| 6 | g.7579790T>A | CA362684432 | DSP | c.3600T>A (p.Asn1200Lys) c.3582+18T>A (n.3582+18T>A) | |
| 6 | g.7579790T>C | CA448714316 | DSP | c.3600T>C (p.Asn1200=) c.3582+18T>C (n.3582+18T>C) | |
| 6 | g.7579790T>G | CA004249 | DSP | c.3600T>G (p.Asn1200Lys) c.3582+18T>G (n.3582+18T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579790T= | CA1608614808 | DSP | c.3600T= (p.Asn1200=) c.3582+18T= (n.3582+18T=) | |
| 6 | g.7579791G>A | CA038480 | DSP | c.3601G>A (p.Glu1201Lys) c.3582+19G>A (n.3582+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579791G>C | CA362684433 | DSP | c.3601G>C (p.Glu1201Gln) c.3582+19G>C (n.3582+19G>C) | |
| 6 | g.7579791G= | CA1608614816 | DSP | c.3601G= (p.Glu1201=) c.3582+19G= (n.3582+19G=) | |
| 6 | g.7579791G>T | CA362684434 | DSP | c.3601G>T (p.Glu1201Ter) c.3582+19G>T (n.3582+19G>T) | |
| 6 | g.7579794_7579796del | CA2578524493 | DSP | c.3604_3606del (p.Glu1202del) c.3582+22_3582+24del (n.3582+22_3582+24del) | gnomAD v4 |
| 6 | g.7579792A= | CA1608614821 | DSP | c.3602A= (p.Glu1201=) c.3582+20A= (n.3582+20A=) | |
| 6 | g.7579792A>C | CA362684435 | DSP | c.3602A>C (p.Glu1201Ala) c.3582+20A>C (n.3582+20A>C) | |
| 6 | g.7579792A>G | CA362684436 | DSP | c.3602A>G (p.Glu1201Gly) c.3582+20A>G (n.3582+20A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579792A>T | CA362684437 | DSP | c.3602A>T (p.Glu1201Val) c.3582+20A>T (n.3582+20A>T) | |
| 6 | g.7579793G>A | CA448714317 | DSP | c.3603G>A (p.Glu1201=) c.3582+21G>A (n.3582+21G>A) | |
| 6 | g.7579793G>C | CA362684438 | DSP | c.3603G>C (p.Glu1201Asp) c.3582+21G>C (n.3582+21G>C) | |
| 6 | g.7579793G>T | CA362684439 | DSP | c.3603G>T (p.Glu1201Asp) c.3582+21G>T (n.3582+21G>T) | |
| 6 | g.7579794G>A | CA362684440 | DSP | c.3604G>A (p.Glu1202Lys) c.3582+22G>A (n.3582+22G>A) | |
| 6 | g.7579794G>C | CA362684441 | DSP | c.3604G>C (p.Glu1202Gln) c.3582+22G>C (n.3582+22G>C) | |
| 6 | g.7579794G>T | CA362684442 | DSP | c.3604G>T (p.Glu1202Ter) c.3582+22G>T (n.3582+22G>T) | |
| 6 | g.7579795A= | CA1608614826 | DSP | c.3605A= (p.Glu1202=) c.3582+23A= (n.3582+23A=) | |
| 6 | g.7579795A>C | CA362684444 | DSP | c.3605A>C (p.Glu1202Ala) c.3582+23A>C (n.3582+23A>C) | |
| 6 | g.7579795A>G | CA362684443 | DSP | c.3605A>G (p.Glu1202Gly) c.3582+23A>G (n.3582+23A>G) | gnomAD v4 |
| 6 | g.7579795A>T | CA133968541 | DSP | c.3605A>T (p.Glu1202Val) c.3582+23A>T (n.3582+23A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579796G>A | CA133968549 | DSP | c.3606G>A (p.Glu1202=) c.3582+24G>A (n.3582+24G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7579796G>C | CA362684445 | DSP | c.3606G>C (p.Glu1202Asp) c.3582+24G>C (n.3582+24G>C) | |
| 6 | g.7579796G= | CA1608614832 | DSP | c.3606G= (p.Glu1202=) c.3582+24G= (n.3582+24G=) | |
| 6 | g.7579796G>T | CA362684446 | DSP | c.3606G>T (p.Glu1202Asp) c.3582+24G>T (n.3582+24G>T) | |
| 6 | g.7579797A>C | CA362684447 | DSP | c.3607A>C (p.Met1203Leu) c.3582+25A>C (n.3582+25A>C) | |
| 6 | g.7579797A>G | CA362684448 | DSP | c.3607A>G (p.Met1203Val) c.3582+25A>G (n.3582+25A>G) | |
| 6 | g.7579797A>T | CA362684449 | DSP | c.3607A>T (p.Met1203Leu) c.3582+25A>T (n.3582+25A>T) | ClinVar |
| 6 | g.7579798T>A | CA362684450 | DSP | c.3608T>A (p.Met1203Lys) c.3582+26T>A (n.3582+26T>A) | |
| 6 | g.7579798T>C | CA362684451 | DSP | c.3608T>C (p.Met1203Thr) c.3582+26T>C (n.3582+26T>C) | ClinVar |
| 6 | g.7579798T>G | CA362684452 | DSP | c.3608T>G (p.Met1203Arg) c.3582+26T>G (n.3582+26T>G) | |
| 6 | g.7579799_7579807del | CA2677226242 | DSP | c.3609_3617del (p.Met1203_Leu1206delinsIle) c.3582+27_3582+35del (n.3582+27_3582+35del) | gnomAD v4 |
| 6 | g.7579798_7579799insAC | CA2573140799 | DSP | c.3608_3609insAC (p.Met1203IlefsTer5) c.3582+26_3582+27insAC (n.3582+26_3582+27insAC) | ClinVar dbSNP |
| 6 | g.7579799G>A | CA038502 | DSP | c.3609G>A (p.Met1203Ile) c.3582+27G>A (n.3582+27G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579799G>C | CA362684453 | DSP | c.3609G>C (p.Met1203Ile) c.3582+27G>C (n.3582+27G>C) | |
| 6 | g.7579799G= | CA1608614839 | DSP | c.3609G= (p.Met1203=) c.3582+27G= (n.3582+27G=) | |
| 6 | g.7579799G>T | CA362684454 | DSP | c.3609G>T (p.Met1203Ile) c.3582+27G>T (n.3582+27G>T) | |
| 6 | g.7579799_7579800delinsAG | CA1608614841 | DSP | c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly) c.3582+27_3582+28delinsAG (n.3582+27_3582+28delinsAG) | ClinVar dbSNP |
| 6 | g.7579799_7579800delinsGA | CA1608614845 | DSP | c.3609_3610delinsGA (p.Met1203=) c.3582+27_3582+28delinsGA (n.3582+27_3582+28delinsGA) | |
| 6 | g.7579800A= | CA1608614852 | DSP | c.3610A= (p.Ser1204=) c.3582+28A= (n.3582+28A=) | |
| 6 | g.7579800A>C | CA362684456 | DSP | c.3610A>C (p.Ser1204Arg) c.3582+28A>C (n.3582+28A>C) | gnomAD v4 |
| 6 | g.7579800A>G | CA038520 | DSP | c.3610A>G (p.Ser1204Gly) c.3582+28A>G (n.3582+28A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579800A>T | CA362684455 | DSP | c.3610A>T (p.Ser1204Cys) c.3582+28A>T (n.3582+28A>T) | |
| 6 | g.7579801G>A | CA362684457 | DSP | c.3611G>A (p.Ser1204Asn) c.3582+29G>A (n.3582+29G>A) | gnomAD v4 |
| 6 | g.7579801G>C | CA362684458 | DSP | c.3611G>C (p.Ser1204Thr) c.3582+29G>C (n.3582+29G>C) | gnomAD v4 |
| 6 | g.7579801G>T | CA362684459 | DSP | c.3611G>T (p.Ser1204Ile) c.3582+29G>T (n.3582+29G>T) | |
| 6 | g.7579802del | CA2580075398 | DSP | c.3612del (p.Ser1204ArgfsTer3) c.3582+30del (n.3582+30del) | ClinVar |
| 6 | g.7579802T>A | CA362684460 | DSP | c.3612T>A (p.Ser1204Arg) c.3582+30T>A (n.3582+30T>A) | gnomAD v4 |
| 6 | g.7579802T>C | CA448714324 | DSP | c.3612T>C (p.Ser1204=) c.3582+30T>C (n.3582+30T>C) | |
| 6 | g.7579802T>G | CA362684461 | DSP | c.3612T>G (p.Ser1204Arg) c.3582+30T>G (n.3582+30T>G) | |
| 6 | g.7579803A>C | CA362684462 | DSP | c.3613A>C (p.Asn1205His) c.3582+31A>C (n.3582+31A>C) | |
| 6 | g.7579803A>G | CA362684463 | DSP | c.3613A>G (p.Asn1205Asp) c.3582+31A>G (n.3582+31A>G) | |
| 6 | g.7579803A>T | CA362684464 | DSP | c.3613A>T (p.Asn1205Tyr) c.3582+31A>T (n.3582+31A>T) | COSMIC |
| 6 | g.7579804A>C | CA362684465 | DSP | c.3614A>C (p.Asn1205Thr) c.3582+32A>C (n.3582+32A>C) | |
| 6 | g.7579804A>G | CA362684466 | DSP | c.3614A>G (p.Asn1205Ser) c.3582+32A>G (n.3582+32A>G) | |
| 6 | g.7579804A>T | CA362684467 | DSP | c.3614A>T (p.Asn1205Ile) c.3582+32A>T (n.3582+32A>T) | |
| 6 | g.7579805T>A | CA362684468 | DSP | c.3615T>A (p.Asn1205Lys) c.3582+33T>A (n.3582+33T>A) | |
| 6 | g.7579805T>C | CA448714328 | DSP | c.3615T>C (p.Asn1205=) c.3582+33T>C (n.3582+33T>C) | dbSNP gnomAD v4 |
| 6 | g.7579805T>G | CA362684469 | DSP | c.3615T>G (p.Asn1205Lys) c.3582+33T>G (n.3582+33T>G) | |
| 6 | g.7579807del | CA2580614832 | DSP | c.3617del (p.Leu1206Ter) c.3582+35del (n.3582+35del) | ClinVar |
| 6 | g.7579806T>A | CA004293 | DSP | c.3616T>A (p.Leu1206Ile) c.3582+34T>A (n.3582+34T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579806T>C | CA448714331 | DSP | c.3616T>C (p.Leu1206=) c.3582+34T>C (n.3582+34T>C) | |
| 6 | g.7579806T>G | CA362684470 | DSP | c.3616T>G (p.Leu1206Val) c.3582+34T>G (n.3582+34T>G) | ClinVar dbSNP |
| 6 | g.7579806T= | CA1608614859 | DSP | c.3616T= (p.Leu1206=) c.3582+34T= (n.3582+34T=) | |
| 6 | g.7579807T>A | CA362684471 | DSP | c.3617T>A (p.Leu1206Ter) c.3582+35T>A (n.3582+35T>A) | |
| 6 | g.7579807T>C | CA362684473 | DSP | c.3617T>C (p.Leu1206Ser) c.3582+35T>C (n.3582+35T>C) | |
| 6 | g.7579807T>G | CA362684472 | DSP | c.3617T>G (p.Leu1206Ter) c.3582+35T>G (n.3582+35T>G) | |
| 6 | g.7579808A>C | CA362684474 | DSP | c.3618A>C (p.Leu1206Phe) c.3582+36A>C (n.3582+36A>C) | |
| 6 | g.7579808A>G | CA448714335 | DSP | c.3618A>G (p.Leu1206=) c.3582+36A>G (n.3582+36A>G) | |
| 6 | g.7579808A>T | CA362684475 | DSP | c.3618A>T (p.Leu1206Phe) c.3582+36A>T (n.3582+36A>T) | gnomAD v4 |
| 6 | g.7579809A>C | CA448714336 | DSP | c.3619A>C (p.Arg1207=) c.3582+37A>C (n.3582+37A>C) | |
| 6 | g.7579809A>G | CA362684476 | DSP | c.3619A>G (p.Arg1207Gly) c.3582+37A>G (n.3582+37A>G) | |
| 6 | g.7579809A>T | CA362684477 | DSP | c.3619A>T (p.Arg1207Trp) c.3582+37A>T (n.3582+37A>T) | |
| 6 | g.7579809delinsGGG | CA2580611964 | DSP | c.3619delinsGGG (p.Arg1207GlyfsTer?) c.3582+37delinsGGG (n.3582+37delinsGGG) | ClinVar |
| 6 | g.7579810G>A | CA362684478 | DSP | c.3620G>A (p.Arg1207Lys) c.3582+38G>A (n.3582+38G>A) | gnomAD v4 |
| 6 | g.7579810G>C | CA362684480 | DSP | c.3620G>C (p.Arg1207Thr) c.3582+38G>C (n.3582+38G>C) | |
| 6 | g.7579810G>T | CA362684479 | DSP | c.3620G>T (p.Arg1207Met) c.3582+38G>T (n.3582+38G>T) | |
| 6 | g.7579811G>A | CA448714337 | DSP | c.3621G>A (p.Arg1207=) c.3582+39G>A (n.3582+39G>A) | gnomAD v4 |
| 6 | g.7579811G>C | CA362684481 | DSP | c.3621G>C (p.Arg1207Ser) c.3582+39G>C (n.3582+39G>C) | |
| 6 | g.7579811G>T | CA362684482 | DSP | c.3621G>T (p.Arg1207Ser) c.3582+39G>T (n.3582+39G>T) | |
| 6 | g.7579812A>C | CA362684483 | DSP | c.3622A>C (p.Asn1208His) c.3582+40A>C (n.3582+40A>C) | |
| 6 | g.7579812A>G | CA362684484 | DSP | c.3622A>G (p.Asn1208Asp) c.3582+40A>G (n.3582+40A>G) | ClinVar |
| 6 | g.7579812A>T | CA362684485 | DSP | c.3622A>T (p.Asn1208Tyr) c.3582+40A>T (n.3582+40A>T) | |
| 6 | g.7579813A>C | CA362684486 | DSP | c.3623A>C (p.Asn1208Thr) c.3582+41A>C (n.3582+41A>C) | |
| 6 | g.7579813A>G | CA362684487 | DSP | c.3623A>G (p.Asn1208Ser) c.3582+41A>G (n.3582+41A>G) | |
| 6 | g.7579813A>T | CA362684488 | DSP | c.3623A>T (p.Asn1208Ile) c.3582+41A>T (n.3582+41A>T) | |
| 6 | g.7579814C>A | CA362684489 | DSP | c.3624C>A (p.Asn1208Lys) c.3582+42C>A (n.3582+42C>A) | gnomAD v4 |
| 6 | g.7579814C>G | CA362684490 | DSP | c.3624C>G (p.Asn1208Lys) c.3582+42C>G (n.3582+42C>G) | |
| 6 | g.7579814C>T | CA448714340 | DSP | c.3624C>T (p.Asn1208=) c.3582+42C>T (n.3582+42C>T) | |
| 6 | g.7579815A= | CA1608614864 | DSP | c.3625A= (p.Lys1209=) c.3582+43A= (n.3582+43A=) | |
| 6 | g.7579815A>C | CA362684491 | DSP | c.3625A>C (p.Lys1209Gln) c.3582+43A>C (n.3582+43A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579815A>G | CA362684492 | DSP | c.3625A>G (p.Lys1209Glu) c.3582+43A>G (n.3582+43A>G) | |
| 6 | g.7579815A>T | CA362684493 | DSP | c.3625A>T (p.Lys1209Ter) c.3582+43A>T (n.3582+43A>T) | |
| 6 | g.7579816A= | CA1608614870 | DSP | c.3626A= (p.Lys1209=) c.3582+44A= (n.3582+44A=) | |
| 6 | g.7579816A>C | CA362684494 | DSP | c.3626A>C (p.Lys1209Thr) c.3582+44A>C (n.3582+44A>C) | |
| 6 | g.7579816A>G | CA362684496 | DSP | c.3626A>G (p.Lys1209Arg) c.3582+44A>G (n.3582+44A>G) | ClinVar dbSNP |
| 6 | g.7579816A>T | CA362684495 | DSP | c.3626A>T (p.Lys1209Met) c.3582+44A>T (n.3582+44A>T) | |
| 6 | g.7579817G>A | CA448714343 | DSP | c.3627G>A (p.Lys1209=) c.3582+45G>A (n.3582+45G>A) | |
| 6 | g.7579817G>C | CA362684497 | DSP | c.3627G>C (p.Lys1209Asn) c.3582+45G>C (n.3582+45G>C) | ClinVar |
| 6 | g.7579817G= | CA1608614876 | DSP | c.3627G= (p.Lys1209=) c.3582+45G= (n.3582+45G=) | |
| 6 | g.7579817G>T | CA362684498 | DSP | c.3627G>T (p.Lys1209Asn) c.3582+45G>T (n.3582+45G>T) | dbSNP gnomAD v4 |
| 6 | g.7579818T>A | CA362684499 | DSP | c.3628T>A (p.Tyr1210Asn) c.3582+46T>A (n.3582+46T>A) | |
| 6 | g.7579818T>C | CA362684500 | DSP | c.3628T>C (p.Tyr1210His) c.3582+46T>C (n.3582+46T>C) | dbSNP |
| 6 | g.7579818T>G | CA362684501 | DSP | c.3628T>G (p.Tyr1210Asp) c.3582+46T>G (n.3582+46T>G) | |
| 6 | g.7579818T= | CA1608614881 | DSP | c.3628T= (p.Tyr1210=) c.3582+46T= (n.3582+46T=) | |
| 6 | g.7579819A= | CA1608614886 | DSP | c.3629A= (p.Tyr1210=) c.3582+47A= (n.3582+47A=) | |
| 6 | g.7579819A>C | CA362684502 | DSP | c.3629A>C (p.Tyr1210Ser) c.3582+47A>C (n.3582+47A>C) | |
| 6 | g.7579819A>G | CA362684503 | DSP | c.3629A>G (p.Tyr1210Cys) c.3582+47A>G (n.3582+47A>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579819A>T | CA362684504 | DSP | c.3629A>T (p.Tyr1210Phe) c.3582+47A>T (n.3582+47A>T) | |
| 6 | g.7579820T>A | CA004366 | DSP | c.3630T>A (p.Tyr1210Ter) c.3582+48T>A (n.3582+48T>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579820T>C | CA448714345 | DSP | c.3630T>C (p.Tyr1210=) c.3582+48T>C (n.3582+48T>C) | |
| 6 | g.7579820T>G | CA362684505 | DSP | c.3630T>G (p.Tyr1210Ter) c.3582+48T>G (n.3582+48T>G) | |
| 6 | g.7579820T= | CA1608614891 | DSP | c.3630T= (p.Tyr1210=) c.3582+48T= (n.3582+48T=) | |
| 6 | g.7579821G>A | CA362684508 | DSP | c.3631G>A (p.Glu1211Lys) c.3582+49G>A (n.3582+49G>A) | COSMIC |
| 6 | g.7579821G>C | CA362684507 | DSP | c.3631G>C (p.Glu1211Gln) c.3582+49G>C (n.3582+49G>C) | |
| 6 | g.7579821G>T | CA362684506 | DSP | c.3631G>T (p.Glu1211Ter) c.3582+49G>T (n.3582+49G>T) | |
| 6 | g.7579822A>C | CA362684509 | DSP | c.3632A>C (p.Glu1211Ala) c.3582+50A>C (n.3582+50A>C) | |
| 6 | g.7579822A>G | CA362684510 | DSP | c.3632A>G (p.Glu1211Gly) c.3582+50A>G (n.3582+50A>G) | |
| 6 | g.7579822A>T | CA362684511 | DSP | c.3632A>T (p.Glu1211Val) c.3582+50A>T (n.3582+50A>T) | |
| 6 | g.7579823A= | CA1608614895 | DSP | c.3633A= (p.Glu1211=) c.3582+51A= (n.3582+51A=) | |
| 6 | g.7579823A>C | CA362684512 | DSP | c.3633A>C (p.Glu1211Asp) c.3582+51A>C (n.3582+51A>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579823A>G | CA448714350 | DSP | c.3633A>G (p.Glu1211=) c.3582+51A>G (n.3582+51A>G) | |
| 6 | g.7579823A>T | CA362684513 | DSP | c.3633A>T (p.Glu1211Asp) c.3582+51A>T (n.3582+51A>T) | |
| 6 | g.7579824A>C | CA362684516 | DSP | c.3634A>C (p.Thr1212Pro) c.3582+52A>C (n.3582+52A>C) | |
| 6 | g.7579824A>G | CA362684515 | DSP | c.3634A>G (p.Thr1212Ala) c.3582+52A>G (n.3582+52A>G) | gnomAD v4 |
| 6 | g.7579824A>T | CA362684514 | DSP | c.3634A>T (p.Thr1212Ser) c.3582+52A>T (n.3582+52A>T) | |
| 6 | g.7579825C>A | CA362684517 | DSP | c.3635C>A (p.Thr1212Lys) c.3582+53C>A (n.3582+53C>A) | |
| 6 | g.7579825C>G | CA362684518 | DSP | c.3635C>G (p.Thr1212Arg) c.3582+53C>G (n.3582+53C>G) | |
| 6 | g.7579825C>T | CA362684519 | DSP | c.3635C>T (p.Thr1212Ile) c.3582+53C>T (n.3582+53C>T) | |
| 6 | g.7579826A>C | CA448714352 | DSP | c.3636A>C (p.Thr1212=) c.3582+54A>C (n.3582+54A>C) | |
| 6 | g.7579826A>G | CA448714353 | DSP | c.3636A>G (p.Thr1212=) c.3582+54A>G (n.3582+54A>G) | ClinVar |
| 6 | g.7579826A>T | CA448714355 | DSP | c.3636A>T (p.Thr1212=) c.3582+54A>T (n.3582+54A>T) | |
| 6 | g.7579829_7579830del | CA2573332574 | DSP | c.3639_3640del (p.Glu1213AspfsTer2) c.3582+57_3582+58del (n.3582+57_3582+58del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579827G>A | CA362684520 | DSP | c.3637G>A (p.Glu1213Lys) c.3582+55G>A (n.3582+55G>A) | |
| 6 | g.7579827G>C | CA362684521 | DSP | c.3637G>C (p.Glu1213Gln) c.3582+55G>C (n.3582+55G>C) | |
| 6 | g.7579827G>T | CA362684522 | DSP | c.3637G>T (p.Glu1213Ter) c.3582+55G>T (n.3582+55G>T) | |
| 6 | g.7579828A>C | CA362684523 | DSP | c.3638A>C (p.Glu1213Ala) c.3582+56A>C (n.3582+56A>C) | |
| 6 | g.7579828A>G | CA362684525 | DSP | c.3638A>G (p.Glu1213Gly) c.3582+56A>G (n.3582+56A>G) | |
| 6 | g.7579828A>T | CA362684524 | DSP | c.3638A>T (p.Glu1213Val) c.3582+56A>T (n.3582+56A>T) | |
| 6 | g.7579829G>A | CA448714358 | DSP | c.3639G>A (p.Glu1213=) c.3582+57G>A (n.3582+57G>A) | |
| 6 | g.7579829G>C | CA362684526 | DSP | c.3639G>C (p.Glu1213Asp) c.3582+57G>C (n.3582+57G>C) | |
| 6 | g.7579829G>T | CA362684527 | DSP | c.3639G>T (p.Glu1213Asp) c.3582+57G>T (n.3582+57G>T) | |
| 6 | g.7579830A= | CA1608614899 | DSP | c.3640A= (p.Ile1214=) c.3582+58A= (n.3582+58A=) | |
| 6 | g.7579830A>C | CA362684528 | DSP | c.3640A>C (p.Ile1214Leu) c.3582+58A>C (n.3582+58A>C) | |
| 6 | g.7579830A>G | CA362684529 | DSP | c.3640A>G (p.Ile1214Val) c.3582+58A>G (n.3582+58A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579830A>T | CA362684530 | DSP | c.3640A>T (p.Ile1214Phe) c.3582+58A>T (n.3582+58A>T) | |
| 6 | g.7579831T>A | CA362684531 | DSP | c.3641T>A (p.Ile1214Asn) c.3582+59T>A (n.3582+59T>A) | |
| 6 | g.7579831T>C | CA362684532 | DSP | c.3641T>C (p.Ile1214Thr) c.3582+59T>C (n.3582+59T>C) | |
| 6 | g.7579831T>G | CA362684533 | DSP | c.3641T>G (p.Ile1214Ser) c.3582+59T>G (n.3582+59T>G) | |
| 6 | g.7579832T>A | CA038569 | DSP | c.3642T>A (p.Ile1214=) c.3582+60T>A (n.3582+60T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579832T>C | CA448714360 | DSP | c.3642T>C (p.Ile1214=) c.3582+60T>C (n.3582+60T>C) | |
| 6 | g.7579832T>G | CA362684534 | DSP | c.3642T>G (p.Ile1214Met) c.3582+60T>G (n.3582+60T>G) | ClinVar dbSNP |
| 6 | g.7579832T= | CA1608614907 | DSP | c.3642T= (p.Ile1214=) c.3582+60T= (n.3582+60T=) | |
| 6 | g.7579833A= | CA1608614915 | DSP | c.3643A= (p.Asn1215=) c.3582+61A= (n.3582+61A=) | |
| 6 | g.7579833A>C | CA362684537 | DSP | c.3643A>C (p.Asn1215His) c.3582+61A>C (n.3582+61A>C) | |
| 6 | g.7579833A>G | CA362684536 | DSP | c.3643A>G (p.Asn1215Asp) c.3582+61A>G (n.3582+61A>G) | dbSNP gnomAD v4 |
| 6 | g.7579833A>T | CA362684535 | DSP | c.3643A>T (p.Asn1215Tyr) c.3582+61A>T (n.3582+61A>T) | |
| 6 | g.7579834A= | CA1608614924 | DSP | c.3644A= (p.Asn1215=) c.3582+62A= (n.3582+62A=) | |
| 6 | g.7579834A>C | CA362684538 | DSP | c.3644A>C (p.Asn1215Thr) c.3582+62A>C (n.3582+62A>C) | |
| 6 | g.7579834A>G | CA038586 | DSP | c.3644A>G (p.Asn1215Ser) c.3582+62A>G (n.3582+62A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579834A>T | CA362684539 | DSP | c.3644A>T (p.Asn1215Ile) c.3582+62A>T (n.3582+62A>T) | |
| 6 | g.7579835C>A | CA362684540 | DSP | c.3645C>A (p.Asn1215Lys) c.3582+63C>A (n.3582+63C>A) | |
| 6 | g.7579835C>G | CA362684541 | DSP | c.3645C>G (p.Asn1215Lys) c.3582+63C>G (n.3582+63C>G) | |
| 6 | g.7579835C>T | CA448714365 | DSP | c.3645C>T (p.Asn1215=) c.3582+63C>T (n.3582+63C>T) | gnomAD v4 |
| 6 | g.7579836A= | CA1608614932 | DSP | c.3646A= (p.Ile1216=) c.3582+64A= (n.3582+64A=) | |
| 6 | g.7579836A>C | CA362684542 | DSP | c.3646A>C (p.Ile1216Leu) c.3582+64A>C (n.3582+64A>C) | |
| 6 | g.7579836A>G | CA004419 | DSP | c.3646A>G (p.Ile1216Val) c.3582+64A>G (n.3582+64A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7579836A>T | CA362684543 | DSP | c.3646A>T (p.Ile1216Phe) c.3582+64A>T (n.3582+64A>T) | |
| 6 | g.7579837T>A | CA133968609 | DSP | c.3647T>A (p.Ile1216Asn) c.3582+65T>A (n.3582+65T>A) | dbSNP gnomAD v4 |
| 6 | g.7579837T>C | CA362684544 | DSP | c.3647T>C (p.Ile1216Thr) c.3582+65T>C (n.3582+65T>C) | gnomAD v4 |
| 6 | g.7579837T>G | CA362684545 | DSP | c.3647T>G (p.Ile1216Ser) c.3582+65T>G (n.3582+65T>G) | |
| 6 | g.7579837T= | CA1608614941 | DSP | c.3647T= (p.Ile1216=) c.3582+65T= (n.3582+65T=) | |
| 6 | g.7579838T>A | CA448714370 | DSP | c.3648T>A (p.Ile1216=) c.3582+66T>A (n.3582+66T>A) | |
| 6 | g.7579838T>C | CA448714368 | DSP | c.3648T>C (p.Ile1216=) c.3582+66T>C (n.3582+66T>C) | dbSNP |
| 6 | g.7579838T>G | CA362684546 | DSP | c.3648T>G (p.Ile1216Met) c.3582+66T>G (n.3582+66T>G) | |
| 6 | g.7579838T= | CA1608614943 | DSP | c.3648T= (p.Ile1216=) c.3582+66T= (n.3582+66T=) | |
| 6 | g.7579839A= | CA1608614950 | DSP | c.3649A= (p.Thr1217=) c.3582+67A= (n.3582+67A=) | |
| 6 | g.7579839A>C | CA362684547 | DSP | c.3649A>C (p.Thr1217Pro) c.3582+67A>C (n.3582+67A>C) | |
| 6 | g.7579839A>G | CA362684548 | DSP | c.3649A>G (p.Thr1217Ala) c.3582+67A>G (n.3582+67A>G) | |
| 6 | g.7579839A>T | CA038612 | DSP | c.3649A>T (p.Thr1217Ser) c.3582+67A>T (n.3582+67A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579840C>A | CA362684550 | DSP | c.3650C>A (p.Thr1217Lys) c.3582+68C>A (n.3582+68C>A) | |
| 6 | g.7579840C= | CA1608614959 | DSP | c.3650C= (p.Thr1217=) c.3582+68C= (n.3582+68C=) | |
| 6 | g.7579840C>G | CA362684549 | DSP | c.3650C>G (p.Thr1217Arg) c.3582+68C>G (n.3582+68C>G) | |
| 6 | g.7579840C>T | CA004431 | DSP | c.3650C>T (p.Thr1217Met) c.3582+68C>T (n.3582+68C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7579841G>A | CA16605079 | DSP | c.3651G>A (p.Thr1217=) c.3582+69G>A (n.3582+69G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7579841G>C | CA448714374 | DSP | c.3651G>C (p.Thr1217=) c.3582+69G>C (n.3582+69G>C) | dbSNP gnomAD v4 |
| 6 | g.7579841G= | CA1608614964 | DSP | c.3651G= (p.Thr1217=) c.3582+69G= (n.3582+69G=) | |
| 6 | g.7579841G>T | CA448714375 | DSP | c.3651G>T (p.Thr1217=) c.3582+69G>T (n.3582+69G>T) | |
| 6 | g.7579842A>C | CA362684551 | DSP | c.3652A>C (p.Lys1218Gln) c.3582+70A>C (n.3582+70A>C) | |
| 6 | g.7579842A>G | CA362684552 | DSP | c.3652A>G (p.Lys1218Glu) c.3582+70A>G (n.3582+70A>G) | |
| 6 | g.7579842A>T | CA362684553 | DSP | c.3652A>T (p.Lys1218Ter) c.3582+70A>T (n.3582+70A>T) | |
| 6 | g.7579843A>C | CA362684554 | DSP | c.3653A>C (p.Lys1218Thr) c.3582+71A>C (n.3582+71A>C) | |
| 6 | g.7579843A>G | CA362684555 | DSP | c.3653A>G (p.Lys1218Arg) c.3582+71A>G (n.3582+71A>G) | |
| 6 | g.7579843A>T | CA362684556 | DSP | c.3653A>T (p.Lys1218Met) c.3582+71A>T (n.3582+71A>T) | COSMIC |
| 6 | g.7579844G>A | CA448714376 | DSP | c.3654G>A (p.Lys1218=) c.3582+72G>A (n.3582+72G>A) | |
| 6 | g.7579844G>C | CA038649 | DSP | c.3654G>C (p.Lys1218Asn) c.3582+72G>C (n.3582+72G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579844G= | CA1608614971 | DSP | c.3654G= (p.Lys1218=) c.3582+72G= (n.3582+72G=) | |
| 6 | g.7579844G>T | CA362684557 | DSP | c.3654G>T (p.Lys1218Asn) c.3582+72G>T (n.3582+72G>T) | |
| 6 | g.7579845A= | CA1608614974 | DSP | c.3655A= (p.Thr1219=) c.3582+73A= (n.3582+73A=) | |
| 6 | g.7579845A>C | CA362684558 | DSP | c.3655A>C (p.Thr1219Pro) c.3582+73A>C (n.3582+73A>C) | |
| 6 | g.7579845A>G | CA038664 | DSP | c.3655A>G (p.Thr1219Ala) c.3582+73A>G (n.3582+73A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7579845A>T | CA362684559 | DSP | c.3655A>T (p.Thr1219Ser) c.3582+73A>T (n.3582+73A>T) | |
| 6 | g.7579845_7579848del | CA2695206008 | DSP | c.3655_3658del (p.Thr1219ProfsTer30) c.3582+73_3582+76del (n.3582+73_3582+76del) | |
| 6 | g.7579846C>A | CA362684562 | DSP | c.3656C>A (p.Thr1219Asn) c.3582+74C>A (n.3582+74C>A) | ClinVar |
| 6 | g.7579846C>G | CA362684561 | DSP | c.3656C>G (p.Thr1219Ser) c.3582+74C>G (n.3582+74C>G) | |
| 6 | g.7579846C>T | CA362684560 | DSP | c.3656C>T (p.Thr1219Ile) c.3582+74C>T (n.3582+74C>T) | |
| 6 | g.7579847C>A | CA448714380 | DSP | c.3657C>A (p.Thr1219=) c.3582+75C>A (n.3582+75C>A) | |
| 6 | g.7579847C= | CA1608614979 | DSP | c.3657C= (p.Thr1219=) c.3582+75C= (n.3582+75C=) | |
| 6 | g.7579847C>G | CA448714381 | DSP | c.3657C>G (p.Thr1219=) c.3582+75C>G (n.3582+75C>G) | |
| 6 | g.7579847C>T | CA448714382 | DSP | c.3657C>T (p.Thr1219=) c.3582+75C>T (n.3582+75C>T) | dbSNP |
| 6 | g.7579848A>C | CA362684563 | DSP | c.3658A>C (p.Thr1220Pro) c.3582+76A>C (n.3582+76A>C) | |
| 6 | g.7579848A>G | CA362684564 | DSP | c.3658A>G (p.Thr1220Ala) c.3582+76A>G (n.3582+76A>G) | |
| 6 | g.7579848A>T | CA362684565 | DSP | c.3658A>T (p.Thr1220Ser) c.3582+76A>T (n.3582+76A>T) | |
| 6 | g.7579849C>A | CA362684566 | DSP | c.3659C>A (p.Thr1220Asn) c.3582+77C>A (n.3582+77C>A) | |
| 6 | g.7579849C= | CA1608614982 | DSP | c.3659C= (p.Thr1220=) c.3582+77C= (n.3582+77C=) | |
| 6 | g.7579849C>G | CA362684567 | DSP | c.3659C>G (p.Thr1220Ser) c.3582+77C>G (n.3582+77C>G) | |
| 6 | g.7579849C>T | CA362684568 | DSP | c.3659C>T (p.Thr1220Ile) c.3582+77C>T (n.3582+77C>T) | dbSNP |
| 6 | g.7579850C>A | CA448714384 | DSP | c.3660C>A (p.Thr1220=) c.3582+78C>A (n.3582+78C>A) | |
| 6 | g.7579850C= | CA1608614986 | DSP | c.3660C= (p.Thr1220=) c.3582+78C= (n.3582+78C=) | |
| 6 | g.7579850C>G | CA448714388 | DSP | c.3660C>G (p.Thr1220=) c.3582+78C>G (n.3582+78C>G) | |
| 6 | g.7579850C>T | CA038684 | DSP | c.3660C>T (p.Thr1220=) c.3582+78C>T (n.3582+78C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579851A= | CA1608614995 | DSP | c.3661A= (p.Ile1221=) c.3582+79A= (n.3582+79A=) | |
| 6 | g.7579851A>C | CA362684569 | DSP | c.3661A>C (p.Ile1221Leu) c.3582+79A>C (n.3582+79A>C) | |
| 6 | g.7579851A>G | CA004450 | DSP | c.3661A>G (p.Ile1221Val) c.3582+79A>G (n.3582+79A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579851A>T | CA362684570 | DSP | c.3661A>T (p.Ile1221Phe) c.3582+79A>T (n.3582+79A>T) | |
| 6 | g.7579852T>A | CA362684571 | DSP | c.3662T>A (p.Ile1221Asn) c.3582+80T>A (n.3582+80T>A) | |
| 6 | g.7579852T>C | CA362684572 | DSP | c.3662T>C (p.Ile1221Thr) c.3582+80T>C (n.3582+80T>C) | |
| 6 | g.7579852T>G | CA362684573 | DSP | c.3662T>G (p.Ile1221Ser) c.3582+80T>G (n.3582+80T>G) | |
| 6 | g.7579853C>A | CA448714546 | DSP | c.3663C>A (p.Ile1221=) c.3582+81C>A (n.3582+81C>A) | |
| 6 | g.7579853C>G | CA362684574 | DSP | c.3663C>G (p.Ile1221Met) c.3582+81C>G (n.3582+81C>G) | |
| 6 | g.7579853C>T | CA448714547 | DSP | c.3663C>T (p.Ile1221=) c.3582+81C>T (n.3582+81C>T) | ClinVar dbSNP |
| 6 | g.7579854A= | CA1608615002 | DSP | c.3664A= (p.Lys1222=) c.3582+82A= (n.3582+82A=) | |
| 6 | g.7579854A>C | CA362684575 | DSP | c.3664A>C (p.Lys1222Gln) c.3582+82A>C (n.3582+82A>C) | dbSNP |
| 6 | g.7579854A>G | CA362684577 | DSP | c.3664A>G (p.Lys1222Glu) c.3582+82A>G (n.3582+82A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579854A>T | CA362684576 | DSP | c.3664A>T (p.Lys1222Ter) c.3582+82A>T (n.3582+82A>T) |